Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-rasmutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). ...
Background: EGFR (epidermal growth factor receptor) and VEGF (vascular endothelial growth factor) inhibitors confer clinical benefit in metastatic colorectal cancer when combined with chemotherapy. An emerging strategy to improve outcomes in rectal cancer is to integrate biologically active, targeted agents as triple therapy into chemoradiation protocols. Material and methods: cetuximab and bevacizumab have now been incorporated into phase I-II studies of preoperative chemoradiation therapy (CRT) for rectal cancer. The rationale of these combinations, early efficacy and toxicity data, and possible molecular predictors for tumor response are reviewed. Computerized bibliographic searches of Pubmed were supplemented with hand searches of reference lists and abstracts of ASCO and ASTRO meetings. Results: the combination of cetuximab and CRT can be safely applied without dose compromises of the respective treatment components. Disappointingly low rates of pathologic complete remission have ...
The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.
BackgroundNeurofibromatosis type 1 (NF1) is a common monogenic tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1....Full Text Available
Juvenile trees of kalmia derived from shoot tip culture, and seedlings of kobus were irradiated with #gamma#-rays. In kalmia, two mutation lines were obtained which had narrowlong leaves. In kobus two mutation lines were obtained. One mutation line has flowers with 7 to 13 petals. Another mutation line has yellow-green variegated leaves. (author).
BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations...Full Text Available
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available
Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search ...
Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available
Mutations in the Drosophila gene drop-dead (drd) result in early adult lethality and neurodegeneration, but the molecular identity of the drd...Full Text Available
BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available
This annual report describes progress in studies on hprt mutations induced by radon or Indium 111 along with the corresponding mutation frequency, cloning and molecular spectra in human T-lymphocytes. Parallel studies on the mutation susceptibility between individuals is being investigated by hprt mutation studies on ataxia telangiectasia and xeroderma pigmentosum.
Since it was introduced in the early 1940's, mutation breeding has been tested on many crops as modern plant breeding. Until now, more than seven hundred varieties have been developed by means of induced mutation, and many of them officially released and approved for registration. Hundreds of papers report the results of mutation breeding, and the characteristics of induced mutation in different kinds of crops were discussed for review purposes (Blixt and Gottschalk 1975, Gottschalk and Wolff 1983). Considering the results already obtained, it can be concluded that the kinds of induced mutation and their utilization vary from crop to crop. This paper summarizes and discusses the mutation characteristics and kinds on the induced mutants of leguminous plants that have been released.
The effectiveness of the acridines ethidium bromide (EB) and acriflavine in inducing plasmon mutations was compared with the alkylating agents ethyl methanesulphonate (EMS) and diethyl sulphate and to #gamma#-rays. The growth habit (trailing versus bunch) of peanuts (A. hypogaea), controlled by genic-cytoplasmic interactions, was utilized. Breeding tests distinguishing nuclear from plasmon mutations were developed and are described in detail. Plasmon mutations were induced, but there were differences in mutation yields between the cultivars and the mutagens. (Auth.).
Gas-insulated systems employing SF/sub 6/ are utilized in a variety of applications in power delivery systems. Because electric arcs, sparks or corona can decompose SF/sub 6/ into byproducts having chemical properties different from SF/sub 6/, environmental concerns arise regarding inadvertent human exposures to electrically-decomposed SF/sub 6/. Biological assays in our laboratory using mammalian cell culture systems have revealed that spark-decomposed SF/sub 6/ produces cell death, and the extent of cell killing increases with increasing spark energy. Chemical analysis of spark-decomposed SF/sub 6/ has identified the major decomposition pathways and byproducts, but biological testing of individual or byproduct mixtures has indicated that these major decomposition products do not contribute, in a significant fashion, to the cell lethality seen in our assays. Further experiments have suggested that S/sub 2/F/sub 10/ may be produced under our decomposition ...
In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available
Receptor protein tyrosine phosphatase T (PTPRT/PTPρ) is frequently mutated in human cancers including colon, lung, gastric and skin cancers. More than half of the identified tumor-derived...Full Text Available
A regional analysis of nucleotide substitution rates along human genes and their flanking regions allows us to quantify the effect of mutational mechanisms associated with transcription in germ line...Full Text Available
Epidermal growth factor receptor (EGFR) kinase domain mutations hyperactivate the kinase and confer kinase addiction of the non-small-cell lung cancer (NSCLC) tumor...Full Text Available
PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available
A plasmid carrying the bacteriophage lambda lysis genes under lac control was subjected to hydroxylamine mutagenesis, and mutations eliminating the host lethality of the S gene were selected. DNA sequence...Full Text Available
PurposeTo investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.MethodsThe...Full Text Available
PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available
Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase...Full Text Available
Recent preclinical and clinical data suggest that TP53 status and TP53 mutations may be important in determining tumour aggressiveness and therapy response. In this study we investigate the feasibility...Full Text Available
Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available
Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available
PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available
We describe the isolation and genetic characterization of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced mutations in the phage P22 mnt repressor gene cloned in plasmid pBR322. Mutations in the mnt repressor gene or its operator on this plasmid, pPY98, confer a tetracycline resistance phenotype, whereas the wild-type plasmid confers tetracycline sensitivity. Cells carrying pPY98 were briefly exposed to MNNG to give 20 to 40% survival and a 50- to 100-fold increase in tetracycline-resistant cells. DNA sequence analysis showed that 29 to 30 MNNG-induced mutations were GC-to-AT transitions and one was an AT-to-GC transition. About 80% of the mutations are in three hotspots. This mutation spectrum is consistent with the proposed mechanism of mutagenic action of MNNG, which involves mispairing of an alkylated base, O/sup 6/-methylguanine. The mnt gene may be a useful target ...
BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause...Full Text Available
BackgroundThe commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable...Full Text Available
Frontotemporal lobar degeneration is a progressive neurodegenerative syndrome that is the second most common cause of early-onset dementia. Mutations in the progranulin gene are a major cause of familial...Full Text Available
During sexual development, Neurospora crassa inactivates genes in duplicated DNA segments by a hypermutation process, repeat-induced point mutation (RIP). RIP introduces C:G to T:A...Full Text Available
BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available
KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice ...
IntroductionPrimary tumors of the breast containing bone and cartilage are extremely rare, and an osteogenic sarcoma arising from a cystosarcoma phyllodes is exceptional.Case...Full Text Available
A case of lipomatous tubular adenoma (LTA) with syringocystadenom papilliferum (SCAP) arising from the external auditory canal in a 25-year-old man is described and to the best of our knowledge through...Full Text Available
The national standards and state derivatives must be reinforced by models of curricular reform. In this paper, ARISE presents one model based on a set of principles--coherence, integration of the sciences, movement from concrete ideas to abstract ones, inquiry, connection and application, sequencing that is responsive to how people learn.
The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...
Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available
Although the roots of Ras sprouted from the rich history of retrovirus research, it was the discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an...Full Text Available
Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available
We describe the analysis of forward mutations induced in the tetracycline resistance gene of the plasmid pBR322 by directing the reaction of the carcinogen N-acetoxy-N-2-acetylaminofluorene (N-AcO-AAF) to a small restriction fragment (BamHI, SalI) that is located in the proximal part of the antibiotic-resistance gene. Mutant plasmids obtained both in wild type and excision repair deficient (uvrA) bacterial cells are compared. Preliminary data showing the distribution of the -AAF adducts along this restriction fragments are discussed in relation to the observed spectrum of mutations. 20 references, 4 figures.
Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death...Full Text Available
... The AAT Z mutation involves a single amino acid substitution (glutamine for lysine) at position 342, resulting in abnormal folding and polymerization of the ...
Objective:? Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia. Establishing the correct diagnosis is important because surgery can be curative in HPT, but ineffective in FHH. There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas. Design and Patients:? CaSR gene mutations were analyzed and clinical and biochemical parameters evaluated in 139 consecutive out-patients presenting with hypercalcaemia and suspected ...
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available
BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available
Mutation of the gene drop-dead (drd) causes adult Drosophila to die within 2 weeks of eclosion and is associated with reduced rates of defecation...Full Text Available
Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available
Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available
What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...
Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated...Full Text Available
Previously it was shown that the host-range gene of the Bratislava strain of avain sarcoma virus (B77 virus) spontaneously mutates with a very high rate. The wild-type B77 virus called B77 virus-II,...Full Text Available
The Wnt signaling pathway is a robust regulator of skeletal homeostasis. Gain-of-function mutations promote high bone mass, whereas loss of Lrp5 or Lrp6 co-receptors decrease bone mass. Similarly, mutations...Full Text Available
Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[a]pyrene diolepoxide (BPDE) in human (T)-lymphocytes...Full Text Available
Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of ...
AbstractThe gag p6 region of HIV-1 has various nonsubstitutionary mutations, including insertions, duplications, deletions, and premature stop codons. Studies have linked gag p6 mutations...Full Text Available
The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal ...
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with ...
Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.
We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and...Full Text Available
PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available
Loss-of-function mutations in the regulatory gene areA of Aspergillus nidulans prevent the utilization of a wide variety of nitrogen sources. The phenotypes of nit-2 mutants of Neurospora crassa suggest...Full Text Available
Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available
It is shown that vacuum instabilities possibly arising because of tachyons do not contradict any experimental evidence, and therefore that no objection against tachyon existence can be found even on this ground. (Auth.).
In quantifying health risks arising from radiation exposure and synergistic effects promoted by radiation the dose-effect relationship must be used as a basis. Special problems arise in the extrapolation of experimental results or in the treatment of data in the region of low doses administered over long periods of time. For radiation protection purposes, especially manifestations of cancer and genetic effects are significant. The International Commission on Radiation Protection has published binding guiding values on the basis of which to assess the risk of cancer. The cancer risk and genetic risks are estimated for relevant dose ranges and compared with other factors of civilization. For the most important chemical pollutants emitted into the environment the possibilities of impacts arising from synergistic effects are discussed on the basis of the rules and regulations specified in German antipollution legislation. ...
AbstractWe propose a mechanism for the formation of membrane oscillations and traveling waves, which arise due to the coupling between the actin cytoskeleton and the calcium flux through...Full Text Available
The most frequent ultimate cause of death is myocardial arrest. In many cases this is due to myocardial hypoxia, generally arising from failure of the coronary macro- and microcirculation to deliver...Full Text Available
As medical schools incorporate medical informatics into their curriculum the problems of implementation arise. Because there are no standards regarding a medical informatics curriculum, medical schools...Full Text Available
The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed ...
The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate ...
In Europe, the use of anti-EGFR monoclonal antibodies is restricted to Kirsten RAS (KRAS) wild-type colorectal tumors. Information on the KRAS status of the patients tumor is thus key for clinical practice; however, there is little guidance or definition on which KRAS mutations to assess and how to assess them. To ensure the consistency and the quality of KRAS test results in Europe, an interlaboratory control network needs to be set up. This pilot study aimed to identify the variables that need to be assessed in a quality control scheme and to provide a first assessment in a selected set of laboratories. Fourteen different tumor cases were circulated between 13 laboratories by a central laboratory acting as the referent for the mutation status determination. This study illustrated that of...
We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.
Abstract Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome. A computational craniofacial atlas was built automatically from the set of wild-type mouse micro-CT volumes using (1) affine and (2) non-rigid image registration. Subsequently, the atlas was deformed to match each subject from the two groups of mice. The accuracy of these registrations was measured by a comparison of manually placed landma...
We have developed a cell-mediated mutagenesis assay in which cells with the appropriate markers for mutagenesis are co-cultivated with either lethally irradiated rodent embryonic cells that can metabolize carcinogenic hydrocarbons or with primary rat liver cells that can metabolize chemicals carcinogenic to the liver. During co-cultivation, the reactive metabolites of the procarcinogen appear to be transmitted to the mutable cells and induce mutations in them. Assays of this type make it possible to demonstrate a relationship between carcinogenic potency of the chemicals and their ability to induce mutations in mammalian cells. In addition, by simultaneously comparing the frequencies of transformation and mutation induced in normal diploid hamster cells by benzo(a)pyrene (BP) and one of its metabolites, it is possible to estimate the genetic target size for cell transformation in vitro.
Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.
Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...
Aim: Several studies have investigated the expression of the cytokeratins (CKs), vimentin, the epithelial growth factor receptor (EGFR), the oestrogen receptor (ER), and the progesterone...Full Text Available
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available
A brief overview if provided of selected reports presented at the International Symposium on Molecular Mechanisms of Radiation- and Chemical Carcinogen-Induced Cell Transformation held at Mackinac Island, Michigan on September 19-23, 1993.
Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available
Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in...Full Text Available
BackgroundTransposons, i.e. transposable elements (TEs), are the major internal spontaneous mutation agents for the variability of eukaryotic genomes. To address the general issue...Full Text Available
p53 is one of the most mutated tumor suppressors in human cancers and as such has been intensively studied for a long time. p53 is a major orchestrator of the cellular response to a broad array...Full Text Available
BackgroundDuring the last ten years, major advances have been made in characterizing and understanding the evolution of mitochondrial DNA, the most popular marker of molecular biodiversity....Full Text Available
Mutations in SOX9, a gene essential for chondrocyte differentiation cause the human disease campomelic dysplasia (CD). To understand how SOX9 activates transcription, we characterized...Full Text Available
Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available
The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
The p53 tumour suppressor plays a pivotal role in the prevention of oncogenic transformation. Cancers frequently evade the potent antitumour surveillance mechanisms of p53 through mutation of the TP53...Full Text Available
Epidermal growth factor receptor (EGFR)-specific monoclonal antibodies predominantly inhibit colorectal cancer (CRC) growth by interfering with receptor signaling. Recent analyses have shown that patients...Full Text Available
We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the ...
SUMMARYThe biologic and clinical significance of KIT overexpression that associates with KIT gain-of- function mutations occurring in subsets...Full Text Available
PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available
A DNA sequence encoding the A chain of ricin toxin (RTA) from the castor bean plant, Ricinus communis, was placed under GAL1 promoter control and transformed into Saccharomyces cerevisiae. Induction...Full Text Available
A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available
Human cytomegalovirus (HCMV) in clinical material cannot replicate efficiently in vitro until it has adapted by mutation. Consequently, wild-type HCMV differ fundamentally from the passaged strains...Full Text Available
In experiments designed to detect new mutations affecting hemoglobin, we irradiated the male or female parent in reciprocal crosses of two mouse strains that differ in alleles at the hemoglobin (Hba, Hbb) loci as well as at five other specific loci. Offspring were analyzed for hemoglobin properties (electrophoretic pattern, solubility, crystal pattern), serum albumin differences, erythrocyte lysis, reticulocyte count, and external appearance. Five hemoglobin variants were found among the mutants. In three, the genetic contribution from the irradiated father was not expressed with regard to the #alpha#-chain; one carried a tandem duplication (the first known case in the mouse) involving Hbb; and one probably resulted from double nondisjunction of chromosome 7. The finding that major chromosome aberratios can mimic hemoglobin mutations indicates the need, in similar experiments, to follow F_1 screening with thorough cytogenetic analysis. The ...
Some cases of autism spectrum disorder (ASD) have mutations in the lipid phosphatase, Pten (phosphatase and tensin homolog on chromosome 10). Tissue...Full Text Available
With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured...Full Text Available
BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available
Mutation assay with Salmonella typhimurium enabled us to detect various types of mutagens in cooked foods. A series of mutagenic heterocyclic amines has been isolated and identified in broiled fish...Full Text Available
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available
Gastrointestinal stromal tumors (GIST) are thought to derive from the interstitial cells of Cajal (ICC) or an ICC precursor. Oncogenic mutations of the KIT or PDGFRA receptor tyrosine kinases are present...Full Text Available
BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available
We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79...Full Text Available
BackgroundAmyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients....Full Text Available
In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available
The genomic viral RNA (vRNA) segments of influenza A virus contain specific packaging signals at their termini that overlap the coding regions. To further characterize cis-acting signals...Full Text Available
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available
BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available
BackgroundNeuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and...Full Text Available
Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor...Full Text Available
Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available
A method has been developed to predict the effects of mutations in the p53 cancer suppressor gene. The new method uses novel parameters combined with previously established parameters. The most important...Full Text Available
The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene...Full Text Available
One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present...Full Text Available
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available
A mutation in a new gene, molR, prevented the synthesis in Escherichia coli of molybdoenzymes, including the two formate dehydrogenase isoenzymes, nitrate reductase and trimethylamine-N-oxide reductase....Full Text Available
Background and AimsSulfonylurea (SU) herbicides are used extensively in cereal–livestock farming zones as effective and cheap herbicides with useful levels of residual activity....Full Text Available
BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available
The content of guanine+cytosine varies markedly along the chromosomes of homeotherms and great effort has been devoted to studying this heterogeneity and its biological implications. Already...Full Text Available
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes...Full Text Available
Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available
BackgroundA strong association between stress resistance and longevity in multicellular organisms has been established as many mutations that extend lifespan also show increased...Full Text Available
Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available
There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries...Full Text Available
BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available
Fibroblast growth factor (FGF) signaling is involved in skeletal development of the vertebrate. Gain-of-function mutations of FGF receptors (FGFR) cause craniosynostosis, premature fusion of the skull,...Full Text Available
The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available
Glioblastoma, the most common malignant brain tumor, is among the most lethal and difficult cancers to treat. Although epidermal growth factor receptor (EGFR) mutations are frequent in glioblastoma,...Full Text Available
Mutational inactivation of the RB1 tumor suppressor gene initiates retinoblastoma and other human cancers. RB1 protein (pRb) restrains cell proliferation by binding...Full Text Available
While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available
A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available
The pathogenic mechanisms of human autosomal dominant polycystic kidney disease (ADPKD) have been well known to include the mutational inactivation of PKD2. Although haploinsufficiency...Full Text Available
BACKGROUND: H2-histamine receptors mediate a wide range of physiological functions extending from stimulation of gastric acid secretion to induction of human promyelocyte differentiation. We have previously...Full Text Available
Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated...Full Text Available
N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired ...
Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available
Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available
Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available
BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available
PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available
Most colorectal cancers have mutations in the tumor suppressor APC. The best-understood function of APC is its participation in a protein complex that regulates the availability of β-catenin....Full Text Available
BackgroundHistone post-translational modifications are critical for gene expression and cell viability. A broad spectrum of histone lysine residues have been identified in yeast...Full Text Available
Cancers are highly heterogeneous and contain many passenger and driver mutations. To functionally identify tumor suppressor genes relevant to human cancer, we compiled pools of short harpin...Full Text Available
Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available
The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines...Full Text Available
Cultured mouse or human embryonic stem (ES) cells provide access to all of the genes required to elaborate the fundamental components and physiological systems of a mammalian cell. Chemical or insertional...Full Text Available
PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available
Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the ...
ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available
Gamma interferon (IFN-γ) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-γ receptor ligand-binding chain...Full Text Available
Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available
There is increasing concern for the potential adverse health effects of human exposures to chemical mixtures. To better understand the complex interactions of chemicals within a mixture, it is essential...Full Text Available
We study the uniqueness of solutions of a semilinear elliptic problem obtained from an inverse formulation when the nonlinear terms of the equation are prescribed in a general class of real functions. The inverse problem arises in the modeling of the magnetic confinement of a plasma in a Stellarator device. The uniqueness proof relies on an L"#infinity# -estimate on the solution of an auxiliary nonlocal problem formulated in terms of the relative rearrangement of a datum with respect to the solution.
Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the ...
Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described ...
The research work carried out on mutation breeding in Egypt during the 1980s is summarized. Several mutations have been developed in bread wheat, maize, rice and barley. A higher yield, tolerance to salinity, shorter types and earliness were obtained after use of different mutagens and growth regulators. Great attention has been paid to the fababean and chickpea, particularly in improving their quality and quantity of protein, and their resistance to insect weevils such as Callosobruchus sp. Tolerance or resistance to broom rape has also been reported. Various grain legumes such as lentil, pea, cowpea, bean, fenugreek and lupin received some attention. Mutation work on fibre crops such as cotton, kenaf and flax has led to some promising results. Zero type, glandless and early maturing mutants were obtained in cotton, and early flowering, high yielding (fibre or oil) mutants in flax. Some attention has been given to oil ...
With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured human hepatoma cells, but save for the genotype 2a isolate JFH-1, efficient replication of these HCV RNAs requires replication enhancing mutations (REMs), previously also called cell culture adaptive mutations. These mutations cluster primarily in the central region of non-structural protein 5A (NS5A), but may also reside in the NS3 helicase domain or at a distinct position in NS4B. Most efficient replication has been achieved by combining REMs residing in NS3 with distinct REMs located in NS4B or NS5A. However, in spite of efficient replication of HCV genomes containing such mutations, they do not support production of infectious virus particles. By using the genotype 1b isolate Con1, in this study we ...
We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these ...
The detection of rare mutations has many important applications, including risk assessment of drugs and chemicals, measuring environmental exposures to genotoxins, and cancer cell detection. A sensitive genotypic selection method has been developed that combines two different mutant allele selection techniques, MutEx enrichment and allele-specific competitive blocker PCR (ACB-PCR). This method was developed and evaluated for the detection of a CAA --> AAA mutation at codon 61 of the mouse H-ras gene. The MutEx enrichment is based on MutS binding to a mismatched basepair in heteroduplex DNA. The bound MutS protects the mutant allele from degradation during subsequent exonuclease treatment. ACB-PCR preferentially amplifies a mutant allele in a PCR reaction using a primer that has more mismatches to the wild-type allele than the mutant allele. By combining these two approaches, the codon 61 mutation was detected at mutant ...
Damaging inflammation arising from autoimmune pathology and septic responses results in severe cases of disease. In both instances, anti-inflammatory compounds are used to limit the excessive...Full Text Available
BackgroundSpindle cell carcinoma (SpCC) is a rare microscopic type of cancer of the mouth and oropharynx. Although SpCC is thought to arise from squamous cell carcinoma (SCC), it...Full Text Available
The thalamic reticular nucleus (TRN) consists of GABA-containing neurons that form reciprocal synaptic connections with thalamic relay nuclei. Excitatory synaptic innervation of TRN neurons arises from...Full Text Available
IntroductionAcute lung injury (ALI) may arise both after sepsis and non-septic inflammatory conditions and is often associated with the release of fatty acids, including oleic acid...Full Text Available
Thiobenzamide (TB) is a potent hepatotoxin in rats, causing dose-dependent hyperbilirubinemia, steatosis, and centrolobular necrosis. These effects arise subsequent to and appear to result from...Full Text Available
This is a report of surgical treatment of thoracoabdominal aortic aneurysms and aneurysms of the abdominal aorta from which the visceral vessels arise during the 18 year period from April 5, 1960,...Full Text Available
Haemophilia, the commonest hereditary bleeding disorder, arises because of the absence of, decrease in, or deficient functioning of plasma coagulation factor VIII or factor IX. With rare exceptions,...Full Text Available
Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine....Full Text Available
We present a rare case of pagetoid reticulosis arising in a five year old white boy. He had a history of a large chronic erythematous, scaly patch on his left buttock that had shown intermittent...Full Text Available
The walleye dermal sarcoma is a mesenchymal tumor which seasonally affects up to 27% of adult walleye fish (Stizostedion vitreum). It arises multicentrically in the dermis, in which its development...Full Text Available
Statistical data on experience gained from operation of steam generators around the world are presented, problems arising in vertical and horizontal steam generators are described, and the conditions of heattransfer tubes used in them are compared.
Epignathus is an extremely rare oropharyngeal teratoma that commonly arises from the palate, leading to a high mortality (80–100%) due to airway obstruction in the neonatal period. We present...Full Text Available
Present investigations suggest that approximately 30% of colorectal cancer (CRC) cases arise on the basis of inherited factors. We hypothesize that the majority of inherited factors are moderately...Full Text Available
Average human behavior in cue combination tasks is well predicted by Bayesian inference models. As this capability is acquired over developmental timescales, the question arises, how it is learned....Full Text Available
BackgroundBlue nevi that arise from the Müllerian tract are rare melanocytic lesions. Several histopathologic variants of cellular blue nevi have been described. The angiomatoid...Full Text Available
Information needs that arise when clinicians use clinical information systems often go unresolved, forcing clinicians to defer decisions or make them with incomplete knowledge. My research characterizes...Full Text Available
A rare case of intracranial metastatic amelanotic melanoma with cyst is presented. The patient was a 51 year old woman with a malignant melanoma arising on her right chest. Two years after a wide excision,...Full Text Available
It is shown that multipole dislocation configurations can arise during power-law creep of certain austenitic stainless steels. These multipoles have been analysed in some detail for two particular steels (Alloy 800 and a modified AISI 316L) and it is suggested that they arise either during instantaneous loading or during the primary creep stage. Trace analysis has shown that the multipoles are confined to {1 1 1} planes during primary creep but are not necessarily confined to these planes during steady-state creep unless they are pinned by interstitials.
A basic problem in gravitational physics is the resolution of spacetime singularities where general relativity breaks down. The simplest such singularities are conical singularities arising from orbifold identifications of flat space, and the most challenging are spacelike singularities inside black holes (and in cosmology). Topology changing processes also require evolution through classically singular spacetimes. I briefly review how a phase of closed string tachyon condensate replaces, and helps to resolve, basic singularities of each of these types. Finally I discuss some interesting features of singularities arising in the small volume limit of compact negatively curved spaces and the emerging zoology of spacelike singularities.
This largely expository paper first gives an introduction to Hilbert stability and its use in Gieseker's GIT construction of $\\overline{M}_g$. Then I review recent work in this area--variants for unpointed curves that arise in Hassett's log minimal model program, starting with Schubert's moduli space of pseudostable curves, and constructions for weighted pointed stable curves and for pointed stable maps due to Swinarski and to Baldwin and Swinarski respectively. The focus is on the steps at which new ideas are needed. Finally, I list open problems in the area, particularly some arising in the log minimal model program that seem inaccessible to current techniques.
A mutation to tetracycline sensitivity in a resistant strain of Streptococcus pneumoniae was shown by several criteria to be due to a point mutation in the conjugative o(cat-tet) element found in the chromosomes of strains derived from BM6001, a clinical strain resistant to tetracycline and chloramphenicol. Strains carrying the mutation were transformed back to tetracycline resistance with the high efficiency of a point marker by donor deoxyribonucleic acids from its ancestral strain and from nine other clinical isolates of pneumococcus and by deoxyribonucleic acids from Group D Streptococcus faecalis and Group B Streptococcus agalactiae strains that also carry conjugative tet elements in their chromosomes. It was not transformed to resistance by tet plasmid deoxyribonucleic acids from either gram-negative or gram-positive species, except for one that carried transposon TN916, the conjugative tet element present in the ...
Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...
Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction ...
IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...
Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)
November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.
We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. (orig./AJ).
We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60degreeC). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at hi...
Each of the three cysteine residues in the Escherichia coli RecA protein was replaced with a number of other amino acids. To do this, each cysteine codon was first converted to a chain-terminating amber codon by oligonucleotide-directed mutagenesis. These amber mutants were then either assayed for function in different suppressor strains or reverted by a second round of mutagenesis with oligonucleotides that had random sequences at the amber codon. Thirty-three different amino acid substitutions were obtained. Mutants were tested for three functions of RecA: survival following UV irradiation, homologous recombination, and induction of the SOS response. It was found that although none of the cysteines is essential for activity, mutations at each of these positions can affect one or more of the activities of RecA, depending on the particular amino acid substitution. In addition, the cysteine at position 116 appears to be involved in the RecA-promoted cleavage of the ...
Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...
Soybean is one of the most economical and nutritious food packed with basic nutrients that combat diseases stemming from mal- and under-nutrition. Despite its rich nutritional profile, use of soybean in food has been limited because soybean proteins are often associated with compounds, which could exert a negative impact on the nutritional quality of the protein. Trypsin inhibitor (TI) is one of the important anti-nutritional factors that exert negative effect by causing growth inhibition. Soybean cultivar VLS-2 was irradiated with 250 Gy gamma rays in a gamma cell (200) with 60Co source installed at BARC to induce mutations for low trypsin inhibitor content. Three mutants with lower levels of TI content were identified and can be utilized for developing elite varieties of soybean. (author)
We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908
Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT-jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the CDC73 locus has been identified. By means of multiplex-PCR we found a large germline deletion affecting the whole gene in a two-generation HPT-JT family. Subsequently array-CGH and specific PCR analysis determined that the muta...
Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.
Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50?65) car factory workers were included. Information on smoking habits and other lifestyle factors were collected followed by a 60 cm colonoscopy. APC and KRAS mutations and microsatellite status were determined in colorectal lesions (colorectal carcinoma (CRC), hyperplastic (HP) and adenomatous polyps (AP)). Data were analysed using unconditional multiple logistic regression models. Results Smokers had a higher prevalence of AP (OR 2.1; 95% CI 1.2?3.6;...
Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic...Full Text Available
The rates of synthesis of a class of both secreted and intracellular degradative enzymes in Bacillus subtilis are controlled by a signal transduction pathway defined by at least four regulatory genes:...Full Text Available
While a great deal of evidence has directly implicated the importance of O6-alkylation of guanine in the mutagenicity of alkylating agents, evidence demonstrating the oncogenic potential of this lesion...Full Text Available
A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies ...
BackgroundSelection of hepatitis B virus (HBV) by host immunity has been suggested to give rise to variants with amino acid substitutions at or around the 'a' determinant...Full Text Available
This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)
This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)
Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant...Full Text Available
During protein synthesis, aminoacyl-tRNA (aa-tRNA) and release factors 1 and 2 (RF1 and RF2) have to bind at the catalytic center of the ribosome on the 50S subunit where they take part in peptide bond...Full Text Available
The positive control function of the bacterial enhancer-binding protein NtrC resides in its central domain, which is highly conserved among activators of ς54 holoenzyme. Previous...Full Text Available
In Streptococcus pneumoniae, CpsB, CpsC, and CpsD are essential for encapsulation, and mutants containing deletions of cpsB, cpsC, or cpsD...Full Text Available
The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available
DescriptionThis project is part of the BBSRCs special initiative on plant and microbial metabolomics. The project will primarily focus on the trichothecene mycotoxin producing Ascomycete fungus Fusarium graminearum (Fg) which causes ear blight disease of small grain cereals. The project aims to explore the metabolome of various wild-type and single gene deletion Fg strains and to compare some of these with the identical gene mutation in the budding yeast, S. cerevisiae (Sc) and the saprophytic filamentous [continued...
Epidemiological studies will not solve the shape of the dose effect curve for stochastic effects in the low dose range. Unicellular processes are necessary for the primary processes so that no threshold dose exists. This is evident for somatic and genetic mutations. Not clearly solved is this question for the complex carcinogenesis. These processes develop with manifold interacting molecular and cellular steps. (orig.).
Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase ...
Spontaneous mutation has been discovered and utilized in domestication of narrow-leafed lupin (Lupinus angustifolius L.). As the result of the domestication, lupin has become a dominant grain legume crop in Western Australia. Facing the new challenge of developing herbicide tolerance cultivars, chemical mutagenesis has been used to create new tolerance to herbicide. This paper reports the characterization of two lupin mutants (Tanjil-AZ-33 and Tanjil-AZ-55) that are highly tolerant to metribuzin herbicide. A dose response study over 8 doses revealed that Tanjil-AZ-33 was 6 times more tolerant to metribuzin than the original parental cultivar Tanjil by measure of LD50. This mutant Tanjil-AZ-33 is the most tolerant germplasm in narrow-leafed lupin. Both mutants also maintain the high resistance to the disease anthracnose as cv Tanjil. Seed yield based on small field plots (3.6 m"2) under irrigation was 4.2 t/ha for Tanjil-AZ-33 and 1.9 t/ha for Tanjil when the ...
Mutagenesis of Lupinus mutabilis was started at the UNA LM (Peru) to obtain mutants with low alkaloid content and early germination. Varieties SCG 25 and Lib 020 were irradiated with gamma radiation. The optimum dose for the SCG 25 variety was 15 Krad and for Lib 020 15 to 20 Krad. The relation between the plant height and radiation dose fits the quadratic polynomial model.
Mutation breeding in one of the cultigens TMV-5 in Sesamum is undertaken with 5 kr, 10 kr, 15 kr, 20 kr, 60 kr and 80 kr, dosages of gamma-rays. 60 kr and 80 kr dosages were found to be lethal from the complete failure of seed germination. The mutagen had a heterotic effect on the different characters and the promising variants obtained in this programme are proposed to be maintained by pureline breeding for their possible release as new varieties. (author).
The periodic mode is analyzed together with two conventional boundary handling modes for particle swarm. By providing an infinite space that comprises periodic copies of original search space, it avoids possible disorganizing of particle swarm that is induced by the undesired mutations at the boundary. The results on benchmark functions show that particle swarm with periodic mode is capable of improving the search performance significantly, by compared with that of conventional modes and other algorithms.
The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)
Oxidized DNA bases, particularly 7,8-dihydro-8-oxoguanine (8-oxoG), are endogenously generated in cells, being a cause of carcinogenic mutations and possibly interfering with gene expression. We found...Full Text Available
APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available
Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp...Full Text Available
Tow experiments were carried out in 1981 and 1982 growth seasons at the greenhouse of the department of agriculture for soils and water researches, atomic energy authority, at inshas, to investigate the responses of two mutation derived lines of sesame and the local cultivar giza 25 to the application of micro nutrients. The possible effect of radiation on germination and growth of sesame seed was also studied in a separate experiment conducted in 1985 season, at inshas.
Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available
Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI ...
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available
Large-scale field tracer experiments have been conducted on Ulchin, Wolsung and Daeduk sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear sites. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. both processes, of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of Biological research for the radiation protection had contained the search of biological microanalytic methods for assessing the health effect by {gamma}-radiation and toxic ...
Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available
Mutagenic, reproductive, and toxicity effects of two closely related chemicals, ethylnitrosourea (ENU) and methylnitrosourea (MNU), were compared at equimolar and near-equimolar doses in the...Full Text Available
BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%....Full Text Available
This paper described the basic design of Alpha Aqueous Waste Treatment Process in NUCEF. Since various experiments using the TRU (transuranium) elements are carried out in NUCEF, wastes containing TRU elements arise. The liquid wastes in NUCEF are categorized into three types. Decontamination and volume reduction of the liquid waste mainly of recovery water from acid recovery process which has lowest radioactive concentration is the most important task, because the arising rate of the waste is large. The major function of the Alpha Aqueous Waste Treatment Process is to decontaminate the radioactive concentration below the level which is allowed to discharge into sea. Prior the process design of this facility, the followings are evaluated:property and arising rate of the liquid waste, room space to install and licensing condition. Considering varieties of liquid wastes and their large volume, the very high decontamination ...
Hidden Markov models (HMMs) are probabilistic functions of finite Markov chains, or, put in other words, state space models with finite state space. In this paper we examine subspace estimation methods for HMMs whose output lies a finite set as well. In particular we study the geometric structure arising from the non-minimality of the linear state space representation of HMMs, and consistency of a subspace algorithm arising from a certain factorisation of the singular value decomposition of the estimated linear prediction matrix. For this algorithm we show that the estimates of the transition and emission probability matrices are consistent up to a similarity transformation, and that the m-step linear predictor computed from the estimated system matrices is consistent, i.e. converges to the true optimal linear m-step predictor.
We have studied L x-rays from 64 MeV iodine projectile in collision with various gas targets, Z_2 #18, do not arise from selective M subshell vacancy population, has been conclusively established by the observations by Datz et al (1971) and by Saha et al (1996) that the measured intensity ratio of the Ll and L#alpha# lines, which arise because of transitions from different M subshells into the same L, subshell, does not show any periodic behaviour with Z, but stays rather constant. Differences in the measured L#beta#_1/L#alpha# intensity ratio of iodine with 7"+ and 24"+ charge states impinging on Kr target established the minor role of the electrons in the N shell of the projectile in the x-ray production mechanism. (author)
Over the last few years it has become increasingly clear that low energy, but high precision experiments provide a powerful and complementary window to physics beyond the Standard Model. In this note we illuminate this by using minicharged particles as an example. We argue that minicharged particles arise naturally in extensions of the Standard Model. Compatibility with charge quantization arguments suggests that minicharged particles typically arise together with a massless hidden sector U(1) gauge field. We present several low energy experiments employing strong lasers, electric and magnetic fields that can be used to search for (light) minicharged particles and their accompanying U(1) gauge boson.
We describe a 2 parameter family of polygon exchange transformations parameterized by points in a square. Whenever the two parameters are irrational, the polygon exchange has periodic orbits of arbitrarily large period. We show that for almost all parameters, the polygon exchange map has the property that almost every point is periodic. However, there is a dense set of irrational parameters for which this fails. By choosing parameters carefully, the measure of non-periodic points can be made arbitrarily close to full measure. These results are powered by a notion of renormalization which holds in a more general setting. Namely, we consider a renormalization of tilings arising from the Corner Percolation Model.
Nonrelativistic band calculations of Mattheiss for Nb and Petroff and Viswanathan for Mo are used to calculate the imaginary part epsilon_2 of the dielectric function for these metals. The structure resulting from interband transitions in the frequency range 0.1--0.5 Ry is found to give fairly good agreement with experiment. The calculation indicates that structure in epsilon_2 can arise from transitions away from symmetry points and lines in the Brillouin zone. The difficulty in distinguishing between the direct and indirect transition models for epsilon_2 is shown to arise from a lack of strong optical critical points. Predictions of the rigid-band model for the optical properties of Nb-Mo alloys are presented.
Abstract Localized regions of enhanced emission from HCO+, NH3 and other species near Herbig-Haro objects (HHOs) have been interpreted as arising in a photochemistry stimulated by the HHO radiation on high-density quiescent clumps in molecular clouds. Static models of this process have been successful in accounting for the variety of molecular species arising ahead of the jet; however, recent observations show that the enhanced molecular emission is widespread along the jet as well as ahead. Hence, a realistic model must take into account the movement of the radiation field past the clump. It was previously unclear as to whether the short interaction time between the clump and the HHO in a moving source model would allow molecules such as HCO+ to reach high enough levels, and to survive fo...
Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...
Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...
Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.
The production of cellulolytic enzymes from fungi has been extensively studied. Several mutants of Trichoderma reesei were selected. Most of the studies were carried out on T. reesei, T. viride, T. harzianum, Penicillium funiculosum, Altemaria alternata. Aspergillus phoenicis, A. ustus, A. tamarii, A. japonicus, and A. niger. T. koningii is one of the most active producers of the so-called C, factor, which is indispensable for the rapid and extensive attack on crystal-line cellulose. However, Trichodenna is known to excrete only small amounts of {beta}-glucosidase. Therefore, Trichoderma is supplemented with {beta}-glucosidase from Aspergillus to increase the saccharification rate of cellulose to glucose as the main sugar. Induction of mutations in Trichodenna spp. rather than T. viride as a tool for the enhancement of {beta}-glucosidase activity was reported. Unfortunately, T. reesei is a poor producer of {beta}-glucosidase. On the other hand, T. harzianum M{sub ...
Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...
Large-scale field tracer experiments have been conducted on Ulchin and Wolsung nuclear sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear site. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. Both processes of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of biological research for the radiation protection had contained the search of biological microanalytic methods for the assessment of health effect by radiation and toxic agents, ...
Based on studies on the genetic and molecular basis of Shigella flexneri invasive properties, we have constructed and evaluated a double mutant of S. flexneri serotype 5 for utilization as a live attenuated oral vaccine against shigellosis. The first mutation, icsA, blocks intracellular spread of bacteria as well as cell-to-cell infection. It affects the capacity of the invasive pathogen to form large abscesses in epithelia. The second mutation, iuc, eliminates production of the siderophore aerobactin thus impairing growth of the bacterium within tissues. This double mutant, SC5700 appeared safe when administered intragastrically to macaque monkeys as three doses (5 x 10(10) c.f.u. each) at weekly intervals. Protection against a challenge by the wild type isolate (M90T) was observed 4 weeks after the last vaccine inoculation. Duration of carriage was considerably reduced as compared to the control group in which all animals had developed severe ...
The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...
Efflux of dopamine through the dopamine transporter (DAT) is critical for the psychostimulatory properties of amphetamines, but the underlying mechanism is unclear. Here we show that Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) plays a key role in this efflux. CaMKIIalpha bound to the distal C terminus of DAT and colocalized with DAT in dopaminergic neurons. CaMKIIalpha stimulated dopamine efflux via DAT in response to amphetamine in heterologous cells and in dopaminergic neurons. CaMKIIalpha phosphorylated serines in the distal N terminus of DAT in vitro, and mutation of these serines eliminated the stimulatory effects of CaMKIIalpha. A mutation of the DAT C terminus impairing CaMKIIalpha binding also impaired amphetamine-induced dopamine efflux. An in vivo role for CaMKII was supported by chronoamperometry measurements showing reduced amphetamine-induced dopamine efflux in response to the CaMKII inhibitor KN93. Our data suggest that ...
The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...
The sodium- and potassium-dependent adenosine triphosphatase (Na+,K(+)-ATPase) maintains the transmembrane Na+ gradient to which is coupled all active cellular transport systems. The R and S alleles of the gene encoding the Na+,K(+)-ATPase alpha 1 subunit isoform were identified in Dahl salt-resistant (DR) and Dahl salt-sensitive (DS) rats, respectively. Characterization of the S allele-specific Na+,K(+)-ATPase alpha 1 complementary DNA identified a leucine substitution of glutamine at position 276. This mutation alters the hydropathy profile of a region in proximity to T3(Na), the trypsin-sensitive site that is only detected in the presence of Na+. This mutation causes a decrease in the rubidium-86 influx of S allele-specific sodium pumps, thus marking a domain in the Na+,K(+)-ATPase alpha subunit important for K+ transport, and supporting the hypothesis of a putative role of these pumps in hypertension.
DescriptionThis project investigates in silico the interactive consequences of breeding for parasite resistance and nutritional environment on livestock productivity. The thesis of the work is that conflicting evidence regarding the consequences of breeding for parasite resistance arises from the failure to consider the interactions between host genetics and nutritional environment. Starting with a framework that accounts for the consequences of host nutrition on the development of parasitism, we will (1 [continued...
Spontaneous pneumothoraces are believed to arise when air from the supplying airway exit via a ruptured visceral pleural bleb into the pleural cavity. Endobronchial one-way valves (EBVs) allow air exit...Full Text Available
In the present study an estimate is made of the malignancy significant dose from external beam radiotherapy in New Zealand utilizing data obtained in a survey conducted in 1975. This survey had been designed to assess genetically significant dose. A weighted effective dose equivalent is derived from the malignancy significant dose for direct comparison with mean per capita effective dose equivalents arising from other sources of radiation. 14 refs., 1 fig., 8 tabs.
The International Index of Erectile Function is a well-worded and psychometrically valid self-report questionnaire widely used as the standard for the evaluation of male sexual function. However, some conceptual and statistical problems arise when using the measure with men who are not sexually active. These problems are illustrated using 2 empirical examples, and the authors provide recommended solutions to further strengthen the efficacy and validity of this measure.
A solid pseudopapillary tumor is an uncommon tumor of the pancreas that rarely metastasizes to other organs and usually shows good prognosis. An extrapancreatic tumor arising from a solid pseudopapillary tumor is very rare. We report a case of an atypical extrapancreatic solid pseudopapillary tumor that arose from the great omentum and disseminated to the peritoneum, and discuss the radiologic findings, including the CT, US, and MRI.
A solid pseudopapillary tumor is an uncommon tumor of the pancreas that rarely metastasizes to other organs and usually shows good prognosis. An extrapancreatic tumor arising from a solid pseudopapillary tumor is very rare. We report a case of an atypical extrapancreatic solid pseudopapillary tumor that arose from the great omentum and disseminated to the peritoneum, and discuss the radiologic findings, including the CT, US, and MRI
Although statistical design is one of the oldest branches of statistics, its importance is ever increasing, especially in the face of the data flood that often faces statisticians. It is important to recognize the appropriate design, and to understand how to effectively implement it, being aware that the default settings from a computer package can easily provide an incorrect analysis. The goal of this book is to describe the principles that drive good design, paying attention to both the theoretical background and the problems arising from real experimental situations. Designs are motivated t
Sandia National Laboratories maintains several libraries of equation of state tables, in a modified Sesame format, for use in hydrocode calculations and other applications. This report discusses one of those libraries, the seslan file, which contains 78 tables from the Los Alamos equation of state library. Minor changes have been made to these tables, making them more convenient for code users and reducing numerical difficulties that occasionally arise in hydrocode calculations.
We have measured the oxygen positions in LaNiO{sub 3} films to elucidate the coupling between epitaxial strain and oxygen octahedral rotations. The oxygen positions are determined by comparing the measured and calculated intensities of half-order Bragg peaks, arising from the octahedral rotations. Combining ab initio density-functional calculations with these experimental results, we show how strain systematically modifies both bond angles and lengths in this functional perovskite oxide.
This report is designed to cover the overall Operation Castle radiological safety matters from the viewpoint of those issues of direct concern to Headquarters, Joint Task Force Seven. It was written for the express purpose of assisting in the development of future radiological safety plans by presenting detailed discussion of the problems and solutions arising during Operation Castle.
This report is designed to cover the overall Operation Castle radiological safety matters from the viewpoint of those issues of direct concern to Headquarters, Joint Task Force Seven. It was written for the express purpose of assisting in the development of future radiological safety plans by presenting detailed discussion of the problems and solutions arising during Operation Castle. Included is a discussion of fallout forecasting techniques.
The basic objective of this project was to consider a large class of matrix computations with particular emphasis on algorithms that can be implemented on arrays of processors. In particular, methods useful for sparse matrix computations were investigated. These computations arise in a variety of applications such as the solution of partial differential equations by multigrid methods and in the fitting of geodetic data. Some of the methods developed have already found their use on some of the newly developed architectures.
The lepton flavor-violating coherent ( /sup -/, e/sup -/) conversion is investigated. Photonic and nonphotonic contributions arising in various gauge models are considered. The dependence of the conversion rate on the structure of the nucleus is given by the elastic form factors. These are obtained in the context of shell model taking into account finite-size effects or extracted from the electron scattering data whenever possible. The relevant branching ratios are studied throughout the periodic table.
The reconstruction of steel lining of the FFTF reactor building is described. The cold part of the lining has a simple structure and represents a steel sheet of 6.35 mm thickness welded to I-shaped imbedded in concrete, the hot part is meant for resisting the hot sodium contacting with it. The reconstruction has been reduced to the substitution of usual lining, the sheets of which are fixed in such a way that dangerous strains in metal arising at evaporation are excluded by the new structure admitting sheet deformation.
To study the role in AIDS pathogenesis of the human immunodeficiency virus type 1 (HIV-1) Tat protein, a transactivator of viral and cellular genes, we generated transgenic mice with a recombinant DNA...Full Text Available
Prostaglandin (PG) D2 has been shown to be transformed by human 11-ketoreductase to 9 alpha,11 beta-PGF2, a biologically active metabolite that is produced in vivo. During the course of developing a...Full Text Available
This paper identifies some of the issues which arise in the consideration of the derivation of new limits on exposure to internal emitters. Basic and secondary radiation protection limits are discussed. Terms are defined and applied to the limitation of risk from stochastic effects. Non-stochastic data for specific internal emitters (/sup 131/I and the radium isotopes) are presented. Emphasis is placed on the quantitative aspects of the limit setting problem. 65 references, 2 figures, 12 tables.
The interaction between core and envelope in stars with central helium burning is investigated. If core and envelope are treated as independent systems, feedback terms arise. All feedback terms are discussed in detail. The approximative treatment of feedback terms in the earlier papers of Lauterborn, Refsdal, and Weigert is found to be fully justified. The problem of secular instabilities in models with central helium burning is rediscussed. (auth)
A self-selected sample of 417 urban and 379 rural preschool children attending the under-5s clinics was weighed in Sierra Leone. The individual weights were related to the weight-for-age Harvard 3rd...Full Text Available
Amplification of oncogenes has been found to be an important prognostic factor in behavior of patients' malignancies. In this study we have used new gel electrophoresis techniques to follow the location...Full Text Available
Protein bodies within the endosperm of castor bean (Ricinus communis L. cv. Hale) seeds arise from numerous small vacuoles which progressively become filled with storage protein, of...Full Text Available
We argue that the occurrence of late-time acceleration can conveniently be described by first-order general relativity covariantly coupled to fermions. Dark energy arises as a gravitationally driven BCS condensate of fermions which forms in the early universe. At late times, the gap and chemical potential evolve to have an equation of state with effective negative pressure, thus naturally leading to acceleration.
In the positive column of a neon glow discharge, two different types of ionization waves occur simultaneously. The low-dimensional chaos arising from the nonlinear interaction between the two waves is controlled by a continuous feedback technique. The control strategy is derived from the time-delayed autosynchronization method. Two spatially displaced points of observation are used to obtain the control information, using the propagation characteristics of the chaotic wave.
The low potency of many man-made estrogenic chemicals, so-called xenoestrogens, has been used to suggest that risks arising from exposure to individual chemicals are negligible. Another argument used...Full Text Available
This study reviews 16 cases of chondroblastoma of the patella which constitute mearly 6% of a large group of chondroblastomas scattered throughout the skeleton. Both radiologic and histologic appearances of chondroblastomas of the patella are indistinguishable from those of chondroblastomas arising in other sites. A reasonable differential diagnosis, including chondromalacia patella, is discussed together with important therapeutic considerations. (orig.).
Primary peritoneal malignant mixed mullerian tumors are very rare. We report the case of a patient presenting with pain in the right upper quadrant of the abdomen and in whom the physical examination demonstrated a peritoneal mass. Computed tomography (CT) confirmed the presence of a mass, with invasion of adjacent organs.
BackgroundTrisomic variants of human embryonic stem cells (hESCs) arise spontaneously in culture. Although trisomic hESCs share many properties with diploid hESCs, they also exhibit...Full Text Available
This paper outlines aspects of the procedures adopted within Nuclear Electric plc for the assessment of Leak before Break arguments and the consequences arising from leakage and/or pipe failure. Only new aspects are considered such as creep, leakage, temperature and over pressure assessments and pipe whip. 7 refs.
Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...
A study is made of plant sensitivity to mutagens during the processing of seeds. An examination is made of problems concerned with modification mutability, the nature of plant restoration following irradiation. Particular attention is given to mutation changes. A presentation is made of several features of mutant changes initially selected by separate indicators. An examination is made of the possible study of mutant indicator genetics. General data on the forms and varieties produced by the mutagenesis method are given. The book is designed for breeding specialists and geneticists engaged in the study of mutagenesis. 439 references, 27 figures, 66 table.
Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...
There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries generated by a number of these protocols. Our programmes suggested some empirical guidelines for library design; however, no information was provided regarding library diversity at the protein (rather than DNA) level. We have now updated our web server, enabling analysis of translated libraries constructed by site-saturation mutagenesis and error-prone PCR (epPCR). We introduce GLUE-Including Translation (GLUE-IT), which finds the expected amino acid completeness of libraries in which up to six codons have been independently varied (according to any user-specified randomization scheme). We provide two tools for assisting with experimental design: CodonCalculator, for assessing amino acids corresponding to given randomized codons; and AA-Calculator, for finding ...
Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L ...
A single amino acid substitution (Asp #-># Asn) at position 138 of E. coli EF-Tu was induced in the tufA gene by an M13 phage oligonucleotide site-directed mutagenesis protocol. The mutated tufA gene was then subcloned in a plasmid vector and expressed in maxicells. The properties of ["3"5S]methionine labelled mutant and wild type EF-Tu's were compared by in vitro assays. Mutant and wild-type EF-Tu's bound EF-Ts with approximately equal affinities. The 138-Asn mutation greatly reduced the protein's affinity for GDP; however, this mutation dramatically increased the proteins affinity for XDP. The mutant protein forms a stable complex with phe-tRNA and XTP, which binds to ribosomes; whereas, it does not form a complex with phe-tRNA and GTP. These results suggest that in EF-Tu x NDP complexes amino acid residue 138 must interact with the substituent on C-2 of the purine ring. Thus in wild-type EF-Tu Asp-138 would H-bond to ...
A number of systems which can elucidate physics beyond the standard model are investigated. The production of axions by a network of cosmic strings in the early universe is calculated. This allows an upper bound to be placed on the axion decay constant, and provides the preferred Peccei-Quinn symmetry breaking scale for axions to make up the dark matter of the universe. Models of neutrino mass arising from strong interactions are investigated. These models possess a massless up quark, thereby solving the strong CP problem. A systematic analysis of the contributions to time reversal violating atomic and molecular electric dipole moments is presented. Specific contributions from the supersymmetric standard model are calculated. The contributions arising from the QCD vacuum angle are also discussed. Prospects for detecting the axion by its long range coherent force are related to measurable electron dipole moments. A method for measuring neutrino ...
A number of systems which can elucidate physics beyond the standard model are investigated. The production of axions by a network of cosmic strings in the early universe is calculated. This allows an upper bound to be placed on the axion decay constant, and provides the preferred Peccei-Quinn symmetry breaking scale for axions to make up the dark matter of the universe. Models of neutrino mass arising from strong interactions are investigated. These models possess a massless up quark, thereby solving the strong CP problem. A systematic analysis of the contributions to time reversal violating atomic and molecular electric dipole moments is presented. Specific contributions from the supersymmetric standard model are calculated. The contributions arising from the QCD vacuum angle are also discussed. Prospects for detecting the axion by its long range coherent force are related to measurable electron dipole moments. A method for measuring neutrino ...
In designing power system stabilizer (PSS), a major difficulty is to successfully treat the system`s uncertainties. These uncertainties arise because of changes in operating conditions, approximations in modeling, parameter variations caused by faults, etc. It is known that in the presence of uncertainties, conventional methodologies such as linear optimal technique, adaptive controls, etc., may fail to guarantee the stability of the system. On the other hand, the H{infinity} control theory provides potential ability to overcome this problem. However, some limitations still exist in the treatment of uncertainty. That is, the existing standard H{infinity}-PSSs cannot adequately treat the system uncertainties. Moreover, performance problems can arise in this approach due to the pole-zero cancellation phenomenon. To deal with the above mentioned limitations, a new design methodology for H{infinity}-PSS based on the `numerator-denominator` ...
In this letter we present a derivation, from the D0-brane picture, of the background monopole field and in general of the full dynamics of the Yang-Mills theory on the dielectric D2-brane of Myers. To do this we study the large N limit of the fuzzy sphere relevant to the dielectric solution. In contrast to the usual interpretation where the commutative D2-brane picture arises directly from the large N limit of the D0-brane picture, we find that a residual non-commutativity must be preserved in order to make the connection by means of the Seiberg-Witten map.
As radiation detection in the interest of national security becomes increasingly commonplace, inevitable questions arise concerning the interpretation of data from handheld radioisotope identifiers (RIIDs). Field elements typically require fast answers to provide an effective defense and to minimize the impact on legitimate movement of people and goods. To support this need, on-call experts at Sandia, Los Alamos, and Lawrence Livermore national laboratories cooperate in resolving radiation alarms rapidly and accurately. We present an overview, describe the work in progress to improve capabilities, and report on some of the lessons learned.
An account of problems arising in the use of coal ash and red mud as filling or banking materials. The soil engineering properties of these materials are explained. Problems encountered in on-site use include difficulty in controlling moisture content, absorption swelling and strongly alkaline atmospheres. For long-term use, it will be necessary to minimize the variations in engineering characteristics and in quality that result from the method of discharge and from the raw materials themselves. There must also be thorough quality control during shipment. (7 refs.) (In Japanese)
Mass distributions of fragments in the low-energy fission of nuclei from "1"8"7Ir to "2"1"3At have been analysed. This analysis has shown that shell effects in symmetric-mode fragment mass yields from the fission of pre-actinide nuclei could be described if one assumes the existence of two strongly deformed neutron shells in the arising fragments with neutron numbers N_1#approx#52 and N_2#approx#68. A new method has been proposed for quantitatively describing the mass distributions of the symmetric fission mode for pre-actinides with A#approx#180-220. (orig.)
In connection with some applications of asymptotic numbers and asymptotic functions, proposed by Khr.Khristov, the problem of describing subsets of asymptotic numbers closed with respect to algebraic operations arises. The algebraic operations with asymptotic numbers are defined by classes of their representatives. All trivial or noncharacteristic solutions are avoided. A procedure for constructing sets of elements closed under action of an algebraic operation or a combination of two or more of them is given. It turns out that the closed sets are given by their kernels, the last being the minimal subsets which generate the whole set by the introduced algebraic operations. It is proved that such kernels exist always. . The closed sets are described by their correspondence with the kernels. (S.P.).
The power industry is moving toward the use of high-voltage transmission lines on tall, flexible towers. These towers are designed for heavier loadings than were previous towers, but the secondary effects of tower displacement tend to be ignored in the present day tower analysis. This paper examines the secondary effects from the large displacement of flexible towers, reviews the secondary stresses arising from joint rigidity and member continuity, and examines the reliability of tower strength predicted by the ASCE design guidelines. More realistic tower test acceptance criteria and a more reliable tower design methodology are suggested.
A conceptual framework is proposed within which the notion of risk as normally used in risk assessment (RA) could be enlarged in line with the real substance of social issues of technology policy, to help avoid RA's threatened irrelevance to social decision making. It is argued that the frequent organizational incoherence and thus the unviability of modern technology arises from 'social alienation' between the innovation-commitment phase and the implementation of the technology in society. The roles of technical elites and of particular concepts of technology in this alienation are emphasized. One of the case studies deals with 'Nuclear power - myths of scientific and organizational realism' and discusses the UK nuclear 'programme' and the Three Mile Island accident. (author).
Prior to routine use, all newly installed x-ray machines must have a radiation-protection survey by a qualified expert. The survey is an evaluation of existing or potential radiation hazards associated with the use of diagnostic x-ray equipment under specific conditions. Such evaluation includes the measurement of exposure levels in the environment as well as environmental levels arising from operation of the equipment. The survey also includes an evaluation of the safety characteristics of the x-ray unit.
Since 1976 the Austrian Research Centre Seibersdorf has the task to collect, treat and store radioactive waste (Radwaste) arising in Austria. Within the Department of Waste Management a variety of appropriate treatment systems are installed. For storing unconditioned and conditioned waste proper storage-halls are available. The collection of Radwaste is carried out using 100 l drums, for the conditioned waste the 200 l drum concept is used. The interim storage of conditioned waste is done at Seibersdorf until a final repository is built. The present plan foresees one to be in operation at the year 2012. (author).
Convective losses arising from buoyancy driven flow were calculated for a two-dimensional model simulating a solar cavity receiver. The TEMPEST code, capable of fully three-dimensional coupled thermal-hydraulic transient calculations, was used for the simulation. Predicted velocity and temperature results for a 2.59 m deep by 2.88 m high rectangular cavity with an aperture opening of 1.72 m were used to determine convective losses for prescribed interior wall temperatures and cavity orientation. Velocity vector and temperature isotherm plots were used to analyze flow characteristics.
In situ optical absorption spectroscopy was used to study the generation of E' centres in amorphous SiO_2 occurring by photo-induced breaking of Si-H groups under 4.7eV pulsed laser radiation. The dependence from laser intensity of the defect generation rate is consistent with a two-photon mechanism for Si-H rupture, while the growth and the saturation of the defects are conditioned by their concurrent annealing due to reaction with mobile hydrogen arising from the same precursor. A rate equation is proposed to model the kinetics of the defects and tested on experimental data.
In situ Auger sputter depth profiles of saturation implants of 3 keV N/sub 2//sup +/ in silicon at room temperature exhibit a sharp peak in the nitrogen concentration in the outermost layers, followed by a monotonic decrease. No broad plateau was observed. The energy of the Auger line corresponding to the Si(2p) core electron excitation, monitored throughout the profiling, exhibits a chemical shift of up to 7 eV at the surface peak concentration. Inert gas ion post-bombardment of unsaturated implants significantly modifies the profile, and supports the suggestion that the surface peak arises through radiation enhanced diffusion of implanted atoms.
Non-Abelian duality in relation to supersymmetry is examined. When the action of the isometry group on the complex structures is nontrivial, extended supersymmetry is realized nonlocally after duality, using path-ordered Wilson lines. Prototype examples considered in detail are, hyper-Kahler metrics with SO(3) isometry and supersymmetric WZW models. For the latter, the natural objects in the nonlocal realizations of supersymmetry arising after duality are the classical non-Abelian parafermions. The canonical equivalence of WZW models and their non-Abelian duals with respect to a vector subgroup is also established. {copyright} {ital 1996 The American Physical Society.}
A new scheme to accurately retain kinetic electron effects in particle-in-cell (PIC) simulations for the case of electrostatic drift waves is presented. The splitting scheme, which is based on exact separation between adiabatic and on adiabatic electron responses, is shown to yield more accurate linear growth rates than the standard df scheme. The linear and nonlinear elliptic problems that arise in the splitting scheme are solved using a multi-grid solver. The multi-grid particle-in-cell approach offers an attractive path, both from the physics and numerical points of view, to simulate kinetic electron dynamics in global toroidal plasmas.
The mine dumps that arise from the gold mining operations in South Africa are a potential source of high concentrations of radon (222"Rn). Studying the diffusion of radon and the emanation from the soil will help to deduce the radon flux from these dumps to identify the problem areas for rehabilitation. This study describes measurements of the emanation coefficient and the modelling of the depth profile of the radon activity concentration, which is compared to a depth profile that was measured on such a mine dump. Emanation coefficients ranging from 0.13 to 0.39 have been obtained.
Forty-three patients with basal and squamous cell carcinomata arising on the pinna were treated radically using a 10 MeV electron beam. The technique and dosage are described and discussed. Primary cancer control with retention of the pinna was achieved in 34 patients. Salvage pinnectomy was performed in four patients for recurrence and one patient for radiation necrosis. Two patients with large primary tumours failed to resolve and died of their disease. The advantages for the patient of the policy of primary radical electron beam therapy are discussed.
Abstract Simon Saunders and David Wallace have proposed an attractive semantics for interpreting linguistic communities embedded in an Everettian multiverse. It provides a charitable interpretation of our ordinary talk about the future, and allows us to retain a principle of bivalence for propositions and to retain the law of excluded middle in the logic of propositions about the future. But difficulties arise when it comes to providing an appropriate account of the metaphysics of macroscopic objects and events. I evaluate various metaphysical frameworks which might be combined with the Saunders-Wallace semantics. I conclude that the most appropriate metaphysics to underwrite the semantics renders Everettian quantum mechanics a theory of non-overlapping worlds.
We give a general local central limit theorem for the sum of two independent random variables, one of which satisfies a central limit theorem while the other satisfies a local central limit theorem with the same order variance. We apply this result to various quantities arising in stochastic geometry, including: size of the largest component for percolation on a box; number of components, number of edges, or number of isolated points, for random geometric graphs; covered volume for germ-grain coverage models; number of accepted points for finite-input random sequential adsorption; sum of nearest-neighbour distances for a random sample from a continuous multidimensional distribution.
With a computerized curve fitting method the trapping parameters of TLD-100 chips were calculated after #alpha#-, #beta#- and #gamma#-irradiation. The absorption of radiation produces an additional glow peak at 250 deg C, and the dominant one arises at 280 deg C. After the analysis of the glow curves only a little LET-dependence of the trap depths and that of the half widths was detected. The charge densities after irradiation before heating of the taps responsible for the high temperature glow peaks (T>240 deg C) show a LET-dependence. (author).
A calculation on the stabilization of the sideband instability in the free electron laser (FEL) and inverse FEL (IFEL) was completed. The issue arises in connection with the use of a tapered (''variable-parameter'') undulator of extended length, such as might be used in an ''enhanced efficiency'' traveling-wave FEL or an IFEL accelerator. In addition, the FEL facility at Columbia was configured as a traveling wave amplifier for a 10-kW signal from a 24-GHz magnetron. The space charge field in the bunches of the FEL was measured. Completed work has been published.
Resonant scattering of atoms with formation of the Feshbach resonance in the presence of a laser radiation coupling the levels of two bound atoms (a molecule) is considered. The laser field leads to a second resonance in scattering and broadening of resonances, which facilitates the possibility of experimental observation of asymmetry of the total scattering cross-section arising because of interference between resonant and potential scatterings. The effects associated with interference of the two channels of decay of a bound system of two atoms (a molecule) in the laser field are studied. An expression is obtained for the scattering length in collision of two cold atoms in the field of laser radiation.
We have obtained for the first time $K$-band infrared spectra of the soft X-ray transient V616 Mon (=A0620--00). We determine the 2-sigma upper limit to the fraction of light arising from the accretion disc to be 27 percent. The effect this has on the binary inclination, determined from modelling the infrared ellipsoidal variations is to increase it by less than 7 degrees and decrease the mass of the black hole by less than 3.6 Msun.
Peripheral primitive neuroectodermal tumors (peripheral PNETs) are rare in the abdomen. We report the imaging findings of four peripheral PNETs arising in the abdomen. Three were ill-demarcated tumors and one was a well-demarcated tumor, with extensive local invasion and lymph node metastasis in two cases, respectively. The tumors are of inhomogeneous attenuation and heterogeneous enhancement after intravenous administration of contrast materials. Although their imaging manifestations cannot distinguish them from other sarcomas, recognition of these imaging features may be helpful in suggesting the possibility of peripheral PNETs in some cases.
In this letter, they present the results on a global fit to precision electroweak data in a Higgs triplet model. In models with a triplet Higgs boson, a consistent renormalization scheme differs from that of the Standard Model and the global fit shows that a light Higgs boson with mass of 100-200 GeV is preferred. Triplet Higgs bosons arise in many extensions of the Standard Model, including the left-right model and the Little Higgs models. The result demonstrates the importance of the scalar loops when there is a large mass splitting between the heavy scalars. It also indicates the significance of the global fit.
Based on the High Temperature Sodium Facility (HTSF) experience and the extensive design efforts for FFTF, procedures are in place for the unloading of the tank cars and for the fill of the FFTF reactor. Special precautions have been taken to provide safe handling and to accommodate contingencies in operation. These contingencies include special protective suits allowing personnel to enter and correct conditions arising from fill operations in the course of moving 7.71 x 10/sup 5/ kg (1.7 x 10/sup 6/ lbs) of sodium from the tank cars into the reactor vessel and its loop system.
In this talk, we explore the feasibility of quantum computation using continuous-variable systems by means of local measurements only. In the first part of the talk, we will identify crucial limitations that arise when starting from Gaussian cluster states. This is done by resorting to a Gaussian projected entangled pair picture as well as to notions of continuous-variable quantum repeater networks. In the second part, we look at instances in which these limitations can be overcome, and how suitable encodings of qubits in oscillators and feasible non-Gaussian resource states give rise to universal schemes for quantum computing.
The geothermal well-cost model developed by Sandia National Laboratories is being used to analyze the sensitivity of well costs to improvements in geothermal drilling technology. Three interim results from this modeling effort are discussed. The sensitivity of well costs to bit parameters, rig parameters, and material costs; an analysis of the cost reduction potential of an advanced bit; and a consideration of breakeven costs for new cementing technology. All three results illustrate that the well-cost savings arising from any new technology will be highly site-dependent but that in specific wells the advances considered can result in significant cost reductions.
A possible birefringence effect that arises in quantum gravity leads to a frequency-dependent rotation of the polarization angle of linearly polarized emission from distant sources. Here we use the UV/optical polarization data of the afterglows of GRB 020813 and GRB 021004 to constrain this effect. We find an upper limit on the Gambini & Pulin birefringence parameter $| \\eta | <2\\times 10^{-7}$. This limit is of 3 orders better than the previous limits from observations of AGNs and of the Crab pulsar. Much stronger limits may be obtained by the future observation of polarization of the prompt $\\gamma$-rays.
National environmental policies have international repercussions: Thus the question arises as to how environmental policy should be designed in order to cope with international environmental problems in an efficient way. These topics were discussed in a conference held at the Kiel Institute of World Economics on July 5-6, 1990. The conference papers and comments are presented in this volume. Environmental scarcity has important international aspects. First, national environmental endowment and policy influence competitiveness and trade. Second, transfrontier pollution is a specific issue. Third, global environmental problems require a solution. This classification of the international aspects of the environmental issue provides the outline of the book. (orig./HSCH).
Emission spectra obtained for three irradiated granular quartz samples under 1.43 eV excitation exhibited the 2.2 and 3.1 eV emission bands characteristic of feldspars. Excitation spectra of these same samples and several others show the 1.44 eV resonance typical of feldspars. This provides convincing evidence that the 2.2 and 3.1 eV infrared stimulated luminescence observed in these granular quartz samples arises from feldspar inclusions.
The Balandin type volcano plots have been considered for the main criterion both in catalysis and electrocatalysis to estimate their fundamental properties and optimal activity: ({alpha}) The ones, when some physical feature or catalytic activity itself is plotted usually along transition series, and ({beta}) The others, when catalytic activity arises as a function of some energetic property, the most usually of the adsorption enthalpy of intermediates bonding upon the substrate in the rate determining step (rds). 29 refs.
Discrete Euclidian Spaces (DESs) are the beginning of a journey without return towards the discretization of mathematics. Important mathematical concepts- such as the idea of number or the systems of numeration, whose formal definition is currently independent of Euclidean spaces -have in the Isodimensional Discrete Mathematics (IDM) their roots in the DESs. This mathematics, which arises largely from the discretization of traditional mathematics, presents its foundations and concepts differently from the orthodox way, so at first glance it may seem that the IDM could be an exotic tool, or perhaps just "a simple curiosity." However, the IDM dis-crete approaches have a great theoretical repercussion on traditional mathematics.
Big Bang nucleosynthesis requires a fine balance between equations of state for photons and relativistic fermions. Several corrections to equation of state parameters arise from classical and quantum physics, which are derived here from a canonical perspective. In particular, loop quantum gravity allows one to compute quantum gravity corrections for Maxwell and Dirac fields. Although the classical actions are very different, quantum corrections to the equation of state are remarkably similar. To lowest order, these corrections take the form of an overall expansion-dependent multiplicative factor in the total density. We use these results, along with the predictions of Big Bang nucleosynthesis, to place bounds on these corrections.
A generalization of Faddeev's group cohomology applicable to diffeomorphism groups is presented. This cohomology is used to calculate the two cocycles associated with a projective representation of the diffeomorphism group on the circle. The group version of the n"3 term descends from a three dimensional Chern-Simons action based on the diffeomorphism group. The group version of the n term arises from an ambiguity in the descent equations of adding closed but not exact forms and is trivial only if its appropriately normalized coefficient is quantized to be an integer. Finally, a hamiltonian interpretation of global anomalies is suggested in the language of group cohomology. (orig.).
A review of chemical decontamination methods for coatings indicates the following: the ease of both contamination and decontamination is a function of the radionuclide and the pH of the environment; the coating type is important in determining whether the contamination is loosely adsorbed, complexed, or contained in porous filler material; the condition of the coating is important to the decontamination factor obtained. Thus coatings can be decontaminated provided the solvent is sufficiently acid to solubilize the radionuclide and the complexant strength of the solvent is greater than that of the coating. Difficulties arise if the contamination is associated with fillers. Furthermore, though nothing has been said about temperature, decontamination of metal goes faster and, usually, with better efficiency at high temperatures. 11 references, 3 figures.
Abstract in english In the last decade it has been experimentally found a periodic domain pattern arising in smectic C* liquid crystals in surface stabilized bookshelf geometry. Such a periodic texture appears after switching-off an external electric field, even in strong anchoring conditions. It has a static character and can be bidimensional, being dependent on both directions normal to the smectic planes and normal to the cell plates. In the present work an explanation to this phenomenon (more) is proposed. According to our model in the antiferroelectric phase the biperiodic texture is a threshold phenomenon, appearing for values of the spontaneous polarization greater than a critical value, whereas in the ferroelectric phase this type of bidimensional instability is hindered.
Safe and economical operations with fissile materials require knowledge of the subcriticality of configurations that arise in material processing, storage, and transportation. Data from critical experiments have been a principal source of information with which to establish safety margins. However, the lower cost and the expediency of performing confirmatory subcritical measurements on the process floor or in the storage vault resulted in much of the early criticality safety guidance being based on subcritical in situ experiments.
This paper describes and analyzes a dithering technique for accurately specifying small values of opacity ({alpha}) that would normally not be possible because of the limited number of bits available in the alpha channel of graphics hardware. This dithering technique addresses problems related to compositing numerous low-opacity semitransparent polygons to create volumetric effects with graphics hardware. The paper also describes the causes and a possible solution to artifacts that arise from parallel or distributed volume rendering using bricking on multiple GPU's.
A central feature of the endocrine pathophysiology of septic shock is thought to be the existence of adrenal dysfunction. Based on changes in glucocorticoid secretion and responsiveness, protein binding, and activity. These changes have been described by the terms "Relative Adrenal Insufficiency" (RAI), or "Critical Illness Related Corticosteroid Insufficiency" (CIRCI), and form part of the rationale for trials of glucocorticoid treatment in septic shock. Diagnostic criteria for these conditions have been based on plasma cortisol profiles and have proven notoriously difficult to establish. The uncertainty in this area arises from the inability of current tests to clearly identify who is truly glucocorticoid "deficient" at a cellular level, and hence who requires supplemental glucocorticoid...
The expected interstellar antiproton spectrum arising from cosmic-ray interactions in the Galaxy is recalculated, and the modulation of both antiprotons and protons is calculated using a two-dimensional modulation model incorporating gradient and curvature drifts and a wavy current sheet as well as the usual diffusion, convection, and energy-loss effects. Significant differences in the antiproton/proton ratio for different solar magnetic field polarities are predicted as well as a 'low-energy' component for antiprotons below about 1 GeV. 28 refs.
The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically. (author).
DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of DFNA5 in a large percentage of gastric, colorectal and breast tumors and p53-dependent transcriptional activity have been reported, concluding that DFNA5 acts as a tumor suppressor gene in different frequent types of cancer. Despite these data, the molecular function of DFNA5 has not been investigated properly. Previous transfection studies with mutant DFNA5 in yeast and in mammalian cells showed a toxic effect of the mutant protein, which was not seen after transfection ...
The Na+-driven bacterial flagellar motor is a molecular machine powered by an electrochemical potential gradient of sodium ions across the cytoplasmic membrane. The marine bacterium Vibrio alginolyticus has a single polar flagellum that enables it to swim in liquid. The flagellar motor contains a basal body and a stator complexes, which are composed of several proteins. PomA, PomB, MotX, and MotY are thought to be essential components of the stator that are required to generate the torque of the rotation. Several mutations have been investigated to understand the characteristics and function of the ion channel in the stator and the mechanism of its assembly around the rotor to complete the motor. In this review, we summarize recent results of the Na+-driven motor in the polar flagellum of ...
A better understanding of the immune processes in the pathogenesis and progression of prostate cancer (CaP) may point the way towards improved treatment modalities. The challenge is to amplify immune responses to combat tumour escape mechanisms. Infection and inflammation may have a role in prostate carcinogenesis, including the newly discovered xenotropic murine leukaemia virus (XMRV). These inflammatory states damage defence mechanisms and induce a high proliferative state favouring further mutation and impaired immune surveillance. With this knowledge we are able to explore the use of immunotherapy to rejuvenate the immune system in combating CaP. Recently Sipuleucel-T, an immunotherapeutic agent for metastatic androgen independent CaP, has resulted in improved survival and might be the...
More and more reforms in public administrations are being conducted that are based on the principles and instruments of ''new public management''. They have set off protest and collective actions by several professional groups in various sectors (health, education, justice, social work, research...), whence questions about the future of professional groups in public services, in particular about their autonomy, which these reforms threaten. The opposition between this new public management and certain professional groups, is not the final explanation to draw from an analysis of this situation. Should these changes be seen as the decline of professional groups and of their autonomy, as a mutation of professional models, an overhaul of professionalism, etc.? These questions, which current ev...
Summary CAG trinucleotide repeat length in the nuclear polymerase gamma gene (POLg) has been shown to be associated with men with reduced fertility. The present study investigated the frequency of CAG repeat length genotypes and three exonuclease motifs of the POLg in relation to the frequency of mitochondrial nucleotide substitutions. DNA from semen samples of 93 normozoospermic men and 192 non-normozoospermic men was isolated and the specific regions of the genes were amplified by polymerase chain reactions (PCR) and sequenced to identify mutations. The genotypic frequencies of pooled POLg CAG repeat lengths, =10/!=10 heterozygotes and !=10/!=10 homozygotes, were significantly different between normozoospermic and non-normozoospermic men (p p POLg genotype. Of the 17 men with non-synonym...
Carotenoids are highly beneficial for human nutrition and health because they provide essential nutrients and important antioxidants in our diets. However, many food crops, especially the major staple crops contain only trace to low amounts of carotenoids. Although significant progress has been made in developing food crops rich in carotenoids by altering the expression of carotenoid biosynthetic genes, in many cases it has proved to be difficult to reach the desired levels of carotenoid enrichment. The recent identification and characterization of a novel gene mutation in cauliflower reveals that creating a metabolic sink to sequester carotenoids is an important mechanism to control carotenoid accumulation in plants. The successful demonstration of increased carotenoid accumulation in ass...
The green fluorescent protein (GFP) asFP499 from Anemonia sulcata is a distant homologue of the GFP from Aequorea victoria. We cloned the asFP499 gene into a mammalian expression vector and showed that this protein was expressed in the human lymphoblast cell line Ramos RA1 and in the embryonic kidney 293T cell line (HEK 293T). In HEK 293T cells, asFP499 was localized mainly in the cytoplasm, suggesting that the protein was excluded from the nucleus. We identified _1_9_4LRMEKLNI_2_0_1 as a candidate nuclear export signal in asFP499 and mutated the isoleucine at position 201 to an alanine. Unlike the wildtype form, the mutant protein was distributed throughout the cytoplasm and nucleus. This is First report of a GFP that contains a functional NES.
Summaries are included of research contracts which expired prior to Dec. 31, 1960. The contracts were concerned with investigations of: electrophysiological responses of biological systems in nerve cells to irradiation with small doses of ionizing radiations; the mode of the protective action of certain sulfhydryl compounds against radiation effects on the synthesis of deoxyribonucleic acid, using tritium-labeled thymidine; development of a bubble chamber method of monitoring and dosimetry for Low fast neutron fluxes; effects of incorporated radioisotopes on the stability of genetic materials; interrelation of root and leaf absorption of radioisotopes in herbaceous plants; uptake of radioactive wastes by lowland rice from soils contaminated by irrigation water, and decontamination of the rice; and comparison between mutation rates induced by acute and chronic gamma irradiations. (B.O.G.)
Mutations in sclerostin function or expression cause sclerosing bone dysplasias, involving decreased antagonism of Wnt/Lrp5 signaling. Conversely, deletion of the VHL tumor suppressor in osteoblasts, which stabilize HIF-a isoforms and thereby enables HIF-a/b-driven gene transcription, increases bone mineral content and cross-sectional area compared to wild-type controls. We examined the influence of cellular hypoxia (1% oxygen) upon sclerostin expression and canonical Wnt signaling. Osteoblasts and osteocytes cultured under hypoxia revealed decreased sclerostin transcript and protein, and increased expression and nuclear localization of activated b-catenin. Similarly, both hypoxia and the hypoxia mimetic DFO increased b-catenin gene reporter activity. Hypoxia and its mimetics increased exp...
This study assessed the impact of the results of genetic testing for hereditary cancer from a multifactorial health psychology perspective, considering that emotional expression plays a key role in psychological adjustment. Measures of dispositional and transactional coping strategies, anxiety and alexithymia were filled out by 77 participants in a longitudinal study design. Statistical analyses were performed using general linear models and partial least squares path modelling, low-constraint methods that are particularly useful in the behavioural sciences. While anxiety levels prior to the result announcement were predictive of the distress experienced by noncarriers, considerable variability was observed for mutation carriers. Some subjects who had lower anxiety levels before the test d...
Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...
PurposeAlthough the safety and feasibility of partial adrenalectomy in patients with von Hippel-Lindau syndrome have been established, long-term outcomes have not been examined. In this study we evaluate the recurrence and functional outcomes in a von Hippel-Lindau syndrome cohort treated for pheochromocytoma with partial adrenalectomy with a followup of at least 5 years. Materials and MethodsWe reviewed the records of patients with von Hippel-Lindau syndrome treated with partial adrenalectomy for pheochromocytoma at the National Cancer Institute. Demographic, germline mutation status, surgical indication, oncologic and functional outcome data were collected. Local recurrence was defined as radiographic evidence of recurrent tumor on the ipsilateral side of partial adrenalectomy. Patients ...
The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically.
Please cite this paper as: Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study. Experimental Dermatology 2008; 17: 203-207. Abstract: Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene. A feature of this mouse model is ectopic mineralization of connective tissue capsule surrounding the bulb of vibrissae. This study was designed to investigate the effect of dietary sevelamer hydrochloride (Renagel), a phosphate binder, and specific mineral modifications on ectopic mineralization of connective tissue in Abcc6-/- mice. Three groups were fed a specific di...
Abstract Background- Cyclosporine is used for treatment of transplanted patients and for immune-mediated diseases. Cyclosporine is known to cause a combination of metabolic side effects including hypertension, hyperkalemia, hypercalciuria and hypomagnesemia. These side effects except for hypomagnesemia are the cardinal features of familial hyperkalemia and hypertension (FHHt), also called pseudohypoaldosteronism type II (PHA II). FHHt is caused by mutations in the kinases WNK1 and WNK4 resulting in an increase in renal Na-Cl cotransporter (NCC) apical distribution and function. Therefore, we studied whether cyclosporine-s metabolic side effects are mediated by WNK4 and NCC. Design- Sprague-Dawley (SD) rats were treated by cyclosporine 25-mg-kg-1 subcutaneously for 14-days. Blood pressure, ...
Data are presented to support the hypothesis that the initial step in the morphologic transformation of irradiated rodent (BALB/3T3) cells is a frequent cellular event involving a large fraction of the irradiated population. This process appears to involve DNA damage, but not to represent a targeted mutation in specific structural gene(s). Morphologic transformation and immortalization appear to be distinct steps in the overall process of transformation. In contradistinction to rodent cells, immortalization is a very rare event in human diploid cells which is induced at extremely low frequencies. The hypothesis is presented that immortality develops among clones of cells bearing stable chromosomal rearrangements which emerge during the proliferation of a population of radiation damaged cells.
The authors have identified a protein present only in erythroid cells that binds to two adjacent sites within an enhancer region of the chicken {beta}-globin locus. Mutation of the sites, so that binding by the factor can no longer be detected in vitro, leads to a loss of enhancing ability, assayed by transient expression in primary erythrocytes. Binding sites for the erythroid-specific factor (Eryf1) are found within regulatory regions for all chicken globin genes. A strong Eryf1 binding site is also present within the enhancer of at least one human globin gene, and proteins from human erythroid cells (but not HeLa cells) bind to both the chicken and the human sites.
Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune ...
Mutations or multiplications in a-synuclein gene cause familial forms of Parkinson disease or dementia with Lewy bodies (LB), and the deposition of wild-type a-synuclein as LB occurs as a hallmark lesion of these disorders, collectively referred to as synucleinopathies, implicating a-synuclein in the pathogenesis of synucleinopathy. To identify modifier genes of a-synuclein-induced neurotoxicity, we conducted an RNAi screen in transgenic C. elegans (Tg worms) that overexpress human a-synuclein in a pan-neuronal manner. To enhance the RNAi effect in neurons, we crossed a-synuclein Tg worms with an RNAi-enhanced mutant eri-1 strain. We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalit...
The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.
(1) Young chrysanthemums were planted after being irradiated at the time of shoot tip culture and the influence of irradiation was evaluated from the point of view of establishment of mutants. (2) Two cultivars, Kin-tenryu and Tenryu-no-asa were used in this experiment. The percentage of cultivars healthy enough to transplant on June 10, 1972 showed a decrease in proportion to the increase of dosage. Some plants of cultivar Kin-tenryu died after being transplanted. (3) Few plants of either cultivar could overwinter, and in particular no plant irradiated by gamma-rays of 20 kR. (4) Plant height showed a tendency of inhibition in both cultivars. (5) Three chlorophyll mutants showing chimera appeared. One of them was in the cultivar Tenryu-no-asa irradiated by 10 kR at 3 days after planting; two of them were in the cultivar Tenryu-no-asa irradiated by 10 kR at 5 days after planting. One mutant exhibiting malformation of entire leaves appeared in the cultivar Kin-tenryu irradiated by 20 kR ...
We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60 degrees C). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at high temperatures is desired to weaken or melt secondary structure motifs. To demonstrate the ability of Taq M1 for RNA detection of pathogens, we performed TaqMan probe-based ...
Humoral immune response to human epidermal growth factor receptor 2 (HER-2/neu or ErbB-2) has been detected in sera of breast cancer patients and shown to be an appropriate prognostic marker (Taylor et al., 2007). However, since Trastuzumab (Herceptin) is a widely used monoclonal antibody as cancer therapy agent for tumors over-expressing HER-2, there is a need for an efficient way to detect host-generated antibodies against HER-2 without the confounding effect of Herceptin. Here we describe a screening method developed to decipher between host antibodies against HER-2 and that of Herceptin. By producing a series of truncation mutants within the epitope of Herceptin, we were able to inhibit this binding. We demonstrated also that by a three amino acid substitution (PPF?SSS) we were able to abrogate Herceptin binding while generating a highly conserved HER-2 extracellular domain (ECD). By producing a stable cell line that expresses this mutated form of the human ...
Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s ...
Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed significant association ...
ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and ...
We have previously shown that budded viruses of Bombyx mori nucleopolyhedrovirus (BmNPV) enter the cell cytoplasm but do not migrate into the nuclei of non-permissive Sf9 cells that support a high titer of Autographa californica multicapsid nucleopolyhedrovirus (AcMNPV) multiplication. Here we show, using the syncytium formation assay, that low-pH-triggered membrane fusion of BmNPV GP64 protein (Bm-GP64) is significantly lower than that of AcMNPV GP64 protein (Ac-GP64). Mutational analyses of GP64 proteins revealed that a single amino acid substitution between Ac-GP64 H155 and Bm-GP64 Y153 can have significant positive or negative effects on membrane fusion activity. Studies using bacmid-based GP64 recombinant AcMNPV harboring point-mutated ac-gp64 and bm-gp64 genes showed that Ac-GP64 H155Y and Bm-GP64 Y153H substitutions decreased and increased, respectively, the multiplication and cell-to-cell spread of progeny viruses. These results ...
The spike (S) protein of severe acute respiratory syndrome coronavirus (SARS-CoV) has two major functions: interacting with the receptor to mediate virus entry and inducing protective immunity. Coincidently, the receptor-binding domain (RBD, residues 318-510) of SAR-CoV S protein is a major antigenic site to induce neutralizing antibodies. Here, we used RBD-Fc, a fusion protein containing the RBD and human IgG1 Fc, as a model in the studies and found that a single amino acid substitution in the RBD (R441A) could abolish the immunogenicity of RBD to induce neutralizing antibodies in immunized mice and rabbits. With a panel of anti-RBD mAbs as probes, we observed that R441A substitution was able to disrupt the majority of neutralizing epitopes in the RBD, suggesting that this residue is critical for the antigenic structure responsible for inducing protective immune responses. We also demonstrated that the RBD-Fc bearing R441A mutation could not bind to soluble and ...
Naturally occurring radionuclides are present in most material. The most common naturally occurring radionuclides in material are those of the uranium and thorium series and potassium-40. This material is commonly referred to as Naturally Occurring Radioactive Material (NORM). In some material the levels of naturally occurring radionuclides are significantly higher, to the extent that regulatory control may be required for radiation protection purposes. Regulation of NORM presents a range of new challenges for both regulators and operators. Unlike more traditional industries dealing with radionuclides, NORM industries have generally not had any radiological oversight and, for example, are not equipped for radiological monitoring. Some consumer goods containing NORM, which have not traditionally been considered as a radiological problem (such as some fertilizers), may require regulation and this may have social and economic consequences. The transport and disposal of NORM are also a ...
Studies have indicated that many people misunderstand climate change. Equipped with a limited mental model they inappropriately use a pattern matching heuristics to analyze climate change and mistakenly believe that we can stabilize atmospheric CO2 by keeping anthropogenic emissions at current rates. Drawing on the findings from cognitive and developmental psychology, I argue that the widespread misunderstanding of climate change may arise from an error in people?s ontological assumptions. The pattern matching heuristics highlights correlations in shape and associates with a static mental model, both of which are effective for understanding objects. When people adopt the pattern matching heuristics, they may have implicitly treated climate change as an object. However, climate change belon...
As the Electric Power Industry is actively preparing for a restructured future where retail wheeling is practiced ideally and efficiently in a competitive market-based environment, concerns may arise legitimately on how system reliability and integrity can be ensured in an environment where markets have an enhanced role. As these concerns may be justified, at least for a transition period, this paper presents a proposal which outlines how the generally accepted requisite capacity, energy, and ancillary services standards may be satisfied through market reliance and minimal coordination by a Reliability Monitoring and Ancillary Services Managing Entity or Independent System Operator. A Strawman detailing one -- and by no means the only -- future scenario inspired by the recent NEPOOL restructuring discussions in New England is presented to demonstrate that market-based competition and flexibility are compatible with a reliable Power System.
Intermittent sun exposure and sunburn are strong predictors of cutaneous malignant melanoma (CMM). On the other hand, melanomas may arise also in non-sun-exposed areas such as the vulva. However, little is known about a possible relationship between sun exposure and vulvar melanoma. Temporal and latitudinal dependencies of the incidence rates of vulvar melanoma were studied in comparison with those of CMM among Caucasians in Sweden, East Germany, USA and Victoria (Australia). The ratios of vulvar melanoma incidence rates to those of CMM tend to decrease with increasing CMM rates. The incidence rates of CMM have increased with time until recently, while those of vulvar melanoma have either decreased or remain constant. In USA vulvar melanoma incidence rates seem to increase from south to no...
The radio, optical, x-ray and gamma-ray nebulae that surround many pulsars are thought to arise from synchrotron and inverse Compton emission. The energy powering this emission as well as the magnetic fields and relativistic particles are supplied by a 'wind' driven by the central object. The inner parts of the wind can be described using the equations of MHD, but these break down in the outer parts, when the density of charge carriers drops below a critical value. This paper reviews the wave properties of the inner part (striped wind), and uses a relativistic two-fluid model (cold electrons and positrons) to re-examine the nonlinear electromagnetic modes that propagate in the outer parts. It is shown that in a radial wind, two solutions exist for circularly polarized electromagnetic modes. At large distances one of them turns into a freely expanding flow containing a vacuum wave, whereas the other decelerates, corresponding to a confined flow.
The infrared spectrum of the rotovibrational band {ital v}=0{r_arrow}2 of parahydrogen has been observed in the condensed phases down to {ital T}=2 K. In the solid, phonon and roton sidebands exhibit peaks corresponding to those observed in the fundamental. Contributions arising from the reorientation of ortho-H{sub 2} impurities have been detected. The {ital Q}{sub 1}(0)+{ital S}{sub 1}(0) band has been resolved into an asymmetric doublet, and the origin of this latter is discussed. In the liquid phase the observed line shapes include strong translational contributions, and are accounted for by assuming that at short times the excited molecule is encapsulated in the cage of nearest neighbors.
Bituminization has to be selected as the process for conditioning radioactive liquid wastes arising from the two VVER V-230 reactors being built at Temelin in the Czech Republic. In the process, a thin-film evaporator, operating at a waste-product temperature of 160"oC, evaporates all free water from the waste effluents. Remaining solids are homogeneously dispersed in a bitumen matrix which solidifies through natural cooling of the binder. The relative simplicity of the process reduces construction costs for on-line waste facilities and operating costs are less given the cheap basic material and simple maintenance. The reliability of the process has been demonstrated at Western reactors and reprocessing plants though adaptations have had to be made to accept VVER effluents. (UK).
Recent advances in nanoscience have raised interest in the minimum bit size required for classical information storage. This bit size is determined by the necessity for bistability with suppressed quantum tunnelling and energy barriers that exceed ambient temperatures. In the case of magnetic information storage, much attention has centred on molecular magnets with bits consisting of about 100 atoms, magnetic uniaxial anisotropy energy barriers of about 50?K and very slow relaxation at low temperatures. Here, we draw attention to the remarkable magnetic properties of some transition-metal dimers, which have energy barriers approaching 500?K with only two atoms. The spin dynamics of these ultrasmall nanomagnets is strongly affected by a Berry phase, which arises from quasi-degen...
A transient-enhanced diffusion has been observed during the furnace or rapid thermal annealing of ion-implanted silicon. We have studied this transient in detail and show that, for doses of Group V dopants sufficient to amorphize the silicon, it arises from the trapping of interstitials by dopant atoms during implantation. These are retained during solidphase-epitaxial (SPE) growth, but can be released by additional thermal processing to cause the observed transient and the formation of a band of extended defects. We have measured the enhanced diffusion coefficients and the duration of the transient for Sb-implanted Si by careful furnace annealing experiments. We obtain general expressions which predict the effects of the transient during any thermal processing based on SPE growth (furnace, CW laser, or rapid thermal annealing). We show that there is no analogous mechanism of vacancy trapping by Group III elements.
A transient-enhanced diffusion has been observed during the furnace or rapid thermal annealing of ion-implanted silicon. We have studied this transient in detail and show that, for doses of Group V dopants sufficient to amorphize the silicon, it arises from the trapping of interstitials by dopant atoms during implantation. These are retained during solidphase-epitaxial (SPE) growth, but can be released by additional thermal processing to cause the observed transient and the formation of a band of extended defects. We have measured the enhanced diffusion coefficients and the duration of the transient for Sb-implanted Si by careful furnace annealing experiments. We obtain general expressions which predict the effects of the transient during any thermal processing based on SPE growth (furnace, CW laser, or rapid thermal annealing). We show that there is no analogous mechanism of vacancy trapping by Group III elements.
In the insurance industry, spreadsheets have emerged as an invaluable tool to for product pricing, because it is relatively straightforward to create and maintain complex pricing models using Excel. In fact, Excel is often preferred to "hard-code" whenever there are frequent changes to the calculations and business logic which under-pin the pricing of an insurance product. However, problems arise as soon as spreadsheets are deployed to end-users: version control, security of intellectual property, and ensuring correct usage are obvious issues; frequently, integration with other systems is also a requirement. Zurich Financial Services Group is a leading financial services provider; several possible solutions to these problems have been evaluated, and EASA has been selected as the preferred technology. Other spreadsheet collaboration approaches which were considered include Excel Services, and/or custom-built software; however, EASA has provided clear benefits over ...
The dosimetry for radiotherapy involving neutrons is very complicated, owing to the complexity of secondary radiation components, whose contributions to the total absorbed dose have to be discriminated, owing to the different radiobiological effects. In order to separate thermal neutrons and photons, LiF dosimeters are mostly utilized. containing different percentage of Li, like as TLD-700, TLD-100 and TLD-600, but many problems arise. In the response of TLD-700 exposed to neutron-gamma mixed fields with high neutron flux, the contribution of thermal neutrons to the Tl emission is high. Moreover. TLD-100 and TLD-600 may undergo radiation damage, and great care has to be taken in order to obtain reliable results. Other TLDs showing lower sensitivity to neutrons are proposed and experimented for such high-flux neutron fields. The faced problems and various proposed solutions are here described. (Author)
In this study, wood samples were exposed to light irradiations (direct sunlight, xenon lamp, mercury vapour lamp) and thermal treatments were carried out in dry- and in humid conditions at 90degreeC. One part of the samples was covered by an aluminium plate during light irradiation. The samples under the aluminium plate also suffered considerable chemical changes, monitored by infrared technique and colour measurement. The sunlight produced greater colour change under the aluminium plate than the artificial light sources. During light irradiation, the carbonyl band having two maximum at 1700 and 1746cm-1 increased and the peak of the aromatic skeletal vibration arising from lignin (1510cm-1) decreased together with the guaiacyl vibrations at 1275cm-1. There was absorption decrease at 1174c...
Autoionizing and Auger transitions in atomic manganese and samarium have been experimentally investigated by observation of the ejected electrons in the energy region 0 to 40 eV following electron impact excitation with incident beams in the energy range 15-500 eV. Seventy-four spectral features are tabulated for manganese and a number of new assignments have been made based on pseudo-relativistic Hartree-Fock calculations and quantum defect analysis. A similar study of samarium reveals only a number of broad features in the ejected-electron energy range 8-10 eV. Three features have been observed consistently in the ejected-electron spectrum of samarium and assigned by comparison with previous work. (author).
The analysis of complex fluids such as crude oils, fuels, vegetable oils and mixed waste streams poses significant challenges arising primarily from the multiplicity of components, the different properties of the components (polarity, polarizability, etc.) and matrix properties. We have recently introduced an analytical strategy that simplifies many of these analyses, and provides the added potential of linking compositional information with physical property information. This aspect can be used to facilitate equation of state development for the complex fluids. In addition to chemical characterization, the approach provides the ability to calculate thermodynamic properties for such complex heterogeneous streams. The technique is based on the advanced distillation curve (ADC) metrology, wh...
The aim of this paper is to illustrate the validity and efficiency of iterative methods for solving large linear systems arising from the finite element discretization of the equation governing conduction-controlled solidification processes. Starting from the basic enthalpy equation, two alternative formulations are obtained and fixed-grid finite element discretizations are developed. These discretizations yield a set of nonlinear equations that are linearized using the Newton-Raphson scheme. The linearized equations are used as a basis for evaluating different iterative methods of the conjugated gradient type. Symmetric scaling and incomplete factorization preconditioning of the linear equations are used to improve the convergence properties of the iterative methods. Vectorization and parallelization are also employed to make full use of the CRAY-2 supercomputer. The results indicate that the implementation of currently available iterative solvers leads to ...
We develop a systematic framework for studying target space duality at the classical level. We show that target space duality between manifolds M and M-tilde arises because of the existence of a very special symplectic manifold. This manifold locally looks like MxM-tilde and admits a double fibration. We analyze the local geometric requirements necessary for target space duality and prove that both manifolds must admit flat orthogonal connections. We show how abelian duality, nonabelian duality and Poisson-Lie duality are all special cases of a more general framework. As an example we exhibit new (nonlinear) dualities in the case M=M-tilde=R{sup n}.
Transcatheter coil embolization for coronary artery to left ventricular fistula was successfully performed in a neonate. At 30 weeks' gestation, fetal echocardiography showed a hypoplastic right ventricle with intact ventricular septum, absent pulmonary valve, tricuspid atresia, and marked distension of the right coronary artery. After birth, the neonate had congestive heart failure and the electrocardiogram showed myocardial ischemic changes in the left ventricular area. Aortography showed a dilated right coronary artery arising from the ascending aorta and draining into the left ventricle. Transcatheter coil embolization was carried out on the 9th day after birth. Since the procedure, no myocardial ischemic changes have been detected. Transcatheter coil embolization is a useful therapy for coronary artery fistula associated with myocardial ischemia. PMID:15564713
The importance of point defects in semiconductor and function materials has been studied in detail, but effective means for detecting point defects has not been available for a long time. The end of range defects in Si, produced by 140 keV Ge"+ implantation, were investigated as detectors for measuring the interstitial concentration created by 42 keV B"+ implantation. The concentration of interstitial resulting from the B"+ implantation and the behavior of the interstitial flux under different annealing condition were given. The enhanced diffusion in the boron doped EPI marker, resulting from mobile non-equilibrium interstitials was demonstrated to be transient. Interstitial fluxes arising from processing can be detected by transient enhanced diffusion (TED) of doped marker layers as well
In six dimensions, cancellation of gauge, gravitational, and mixed anomalies strongly constrains the set of quantum field theories which can be coupled consistently to gravity. We show that for some classes of six-dimensional supersymmetric gauge theories coupled to gravity, the anomaly cancellation conditions are equivalent to tadpole cancellation and other constraints on the matter content of heterotic/type I compactifications on K3. In these cases, all consistent 6D supergravity theories have a realization in string theory. We find one example which may arise from a novel string compactification, and we identify a new infinite family of models satisfying anomaly factorization. We find, however, that this infinite family of models, as well as other infinite families of models previously identified by Schwarz are pathological. We suggest that it may be feasible to demonstrate that there is a string theoretic realization of all consistent six-dimensional ...
The major problem of measurement of a power spectral density (PSD) distribution of surface heights with surface profilometers arises due to the unknown Modulation Transfer Function (MTF) of the instruments, which tends to distort the PSD at higher spatial frequencies. The special mathematical properties of binary pseudo-random patterns make them an ideal basis for developing MTF calibration test surfaces. Two-dimensional binary pseudo-random arrays (BPRAs) have been fabricated and used for the MTF calibration of the MicroMap{trademark}-570 interferometric microscope with all available objectives. An investigation into the effects of fabrication imperfections on the quality of the MTF calibration and a procedure for accounting for such imperfections are presented.
A fusion reactor (such as NET/ITER) which breeds its own tritium fuel requires tritium recovery, purification and separation from the other isotopes. Cyclic adsorption processes are strong candidates for several of the processes involved: amongst other advantages, they promise a low tritium inventory. A good adsorbent for such processes must have high adsorption capacity, high selectivity and very low tritium retention after each cycle. Pure zeolite powder is shown to have an excellent combination of these three properties. However, in practice problems can arise from tritium which is not removed by reactivation. In this paper we show that tritium retention in zeolites can be caused either by water retained in the zeolite structure, which can be removed by ore rigorous activation, or by water tapped on binders in commercial pellets. (orig.).
We consider Bianchi VI spacetime, which also can be reduced to Bianchi types VI0-V-III-I. We initially consider the most general form of the energy-momentum tensor which yields anisotropic stress and heat flow. We then derive an energy-momentum tensor that couples with the spatial curvature in a way so as to cancel out the terms that arise due to the spatial curvature in the evolution equations of the Einstein field equations. We obtain exact solutions for the universes expanding with constant deceleration parameter. The solutions are reduced to each Bianchi type. The dynamics of the models and fluid are examined briefly, and the models that can approach to isotropy are determined.
Very large sparse linear least-squares problems arise in a variety of applications, such as geodetic network adjustments, photogrammetry, earthquake studies, and certain types of finite element analysis. Many of these problems are so large that it is impossible to solve them without using auxiliary storage devices. Some problems are so massive that the storage needed for their solution exceeds the virtual address space of the largest machines. A method for solving such problems on a typical (large) computer is described, and the results of some experiments illustrating the effectiveness of this approach are provided. The method includes an automatic partitioning scheme that is essential to the efficient management of the data on auxiliary files. 8 figures, 2 tables
Mass distributions of fragments in the low-energy fission of nuclei from {sup 187}Ir to {sup 213}At have been analysed. This analysis has shown that shell effects in symmetric-mode fragment mass yields from the fission of pre-actinide nuclei could be described if one assumes the existence of two strongly deformed neutron shells in the arising fragments with neutron numbers N{sub 1}{approx}52 and N{sub 2}{approx}68. A new method has been proposed for quantitatively describing the mass distributions of the symmetric fission mode for pre-actinides with A{approx}180-220. (orig.) 28 refs.
The seesaw-extended MSSM provides a framework in which the observed light neutrino masses and mixing angles can be generated in the context of a natural theory for the TeV-scale. Sneutrino-mixing phenomena provides valuable tools for connecting the physics of neutrinos and supersymmetry. We examine the theoretical structure of the seesaw-extended MSSM, retaining the full complexity of three generations of neutrinos and sneutrinos. In this general framework, new flavor-changing and CP-violating sneutrino processes are allowed, and are parameterized in terms of two $3\\times 3$ matrices that respectively preserve and violate lepton number. The elements of these matrices can be bounded by analyzing the rate for rare flavor-changing decays of charged leptons and the one-loop contribution to neutrino masses. In the former case, new contributions arise in the seesaw extended model which are not present in the ordinary MSSM. In the latter case, sneutrino--antisneutrino ...
In a first paper (Forni & Aghanim 1999), we developed several statistical discriminators to test the non-gaussian nature of a signal. These tests are based on the study of the coefficients in a wavelet decomposition basis. In this paper, we apply them in a cosmological context, to the study of the nature of the Cosmic Microwave Background (CMB) anisotropies. The latter represent the superposition of primary anisotropy imprints of the initial density perturbations and secondary ones due to photon interactions after recombination. In an inflationary scenario (standard Cold Dark Matter) with gaussian distributed fluctuations, we study the statistical signature of the secondary effects. More specifically, we investigate the dominant effects arising from the Compton scattering of CMB photons in ionised regions of the Universe: the Sunyaev-Zel'dovich effect of galaxy clusters and the effects of a spatially inhomogeneous re-ionisation of the Universe. Our study ...
We introduce reflexive polytopes of index l as a natural generalisation of the notion of a reflexive polytope of index 1. These l-reflexive polytopes also appear as dual pairs. In dimension two we show that they arise from reflexive polygons via a change of the underlying lattice. This allows us to efficiently classify all isomorphism classes of l-reflexive polygons up to index 200. As another application, we show that any reflexive polygon of arbitrary index satisfies the famous "number 12" property. This is a new, infinite class of lattice polygons possessing this property, and extends the previously known sixteen instances. The number 12 property also holds more generally for l-reflexive non-convex or self-intersecting polygonal loops. We conclude by discussing higher-dimensional examples and open questions.
This paper addresses known limitations and constraints in eddy current nondestructive testing. Incomplete appreciation for eddy current limitations is believed to have contributed to both under-utilization and misapplication of the technique. Neither situation need arise if known limitations are recognized. Some, such as the skin depth effect, are inherent to electromagnetic test methods and define the role of eddy current testing. Others can be overcome with available technology such as surface probes to find circumferential cracks in tubes and magnetic saturation of ferromagnetic alloys to eliminate permeability effects. The variables responsible for limitations in eddy current testing are discussed and where alternative approaches exist, these are presented. Areas with potential for further research and development are also identified.
Purpose - Key account management (KAM) programmes are a way for companies to develop existing relationships and increase sales, thus being proactive and searching for opportunities (which is often expected of KAM). It is also a way to meet changing customer demands arising from changes in purchasing strategy, buyers' mergers and acquisitions and the search for synergies in order to reduce costs. The purpose of this article is to analyse different key account management programmes on how they manage the sales process complexity and customer expectations. Design/methodology/approach - The paper draws on qualitative data collected during a field study of ABB and six of their major customers, based on annual or biannual interviews with 50 individuals within ABB from 1996 to 2006 and three to t...
Two approaches are used to analyse X-ray or neutron scattering by crystals with different dislocation ensembles. Analogy between the above concepts is discussed. The microscopical approach takes into account the detailed displacement field due to different types of dislocation arrangement in the crystal. Frequently a phenomenological concept operating with the ideas of displacements, strains and stresses arising in the materials under deformation is applied. Unfortunately, the phenomenological concept cannot take into account that similar stress distributions may have significantly different microscopic reasons. The comparison of the results obtained by both phenomenological and microscopic descriptions of scattering enables us to understand the connection between different types of strains and stresses in the crystal with the type of the defects in it. (orig.)
A phase transition of gas-liquid type with an upper critical point is examined which arises in a model of charges of one sign on compensating background (OCP). The phase transition parameters are dependent on the detailed assumptions about the compressibility of the background, but the occurrence of this transition is independent on the background equation of state. In the electron-gas model ('jellium'), this transition appears to rule out Wigner crystallization. A variational principle in statistical mechanics is used to derive so-called Double-OCP model for a superposition of two one-component plasma models for charges of opposite sign. The free energy of this model sets an upper bound to that of a real plasma. Situations are discussed where this transition should manifest itself in anomalies in the approximate description of a non-ideal plasma.
Summary During a histopathological survey of the geoduck, Panopea abbreviata (Hiatellidae), and the razor clam, Ensis macha (Pharidae), in northern Patagonian gulfs (Argentina), turbellarian worms were found in the intestine lumen. In this work, we described a new species of Paravortex (Platyhelminthes, Graffillidae). We collected the hosts by scuba diving and dissected alive for studying the turbellarians. In this new species, the pharynx continues in a short esophagus and the latter in a saccular intestine. Gravid specimens have from 2 to 8 twin embryos in the parenchyma. A short penis papilla arises from the seminal vesicle and the gonopore presents a strong sphincter. This species resembled P. nicolli Szidat, 1965, which was described paraziting Mytilus edulis platensis in Buenos Aires...
A 38 year old male dentist developed an oligodendroglioma of the left medial temporal lobe and parasellar region 12 years after radiotherapy with 6600 rads for acromegaly. The 30 cases of radiation-induced gliomas reported in the English literature are reviewed and analysed. The criteria for defining radiation-induced tumours of the central nervous system are proposed as follows: the tumour has a long quiescent ''latency period'', a location in the previously irradiated field, a verified histological difference from a primary condition, and does not arise from a primary condition associated with a genetic syndrome such as neurofibromatosis or tuberous sclerosis. The reported case fulfilled these criteria but appears to be the only reported radiation-induced oligodendroglioma.
Olfactory memory dysfunctions were investigated in the triple-transgenic murine model of Alzheimer's disease (3x Tg-AD). In the social transmission of food preference test, 3x Tg-AD mice presented severe deficits in odor-based memory, without gross changes in general odor-ability. Ab and tau immunoreactivity was not observed in the primary processing regions for odor, the olfactory bulbs (OBs), whereas marked immunostaining was present in the piriform, entorhinal, and orbitofrontal cortex, as well as in the hippocampus. Our results suggest that the impairment in olfactory-based information processing might arise from degenerative mechanisms mostly affecting higher cortical regions and limbic areas, such as the hippocampus.
The results of an investigation into tailed nuclei (TN) and features of dose dependence on frequency of the binuclear cells with TN in human lymphocyte cultures by cytogenetic block method upon X-ray radiation dose are presented. The frequencies of metaphases with dicentric and ring chromosomes are investigated concurrent with TN formed upon completion of first postradiation mitosis. Frequency of the appearance of binuclear cells with nuclei having outgrowth into the cytoplasmic space and arises after first mitosis in human lymphocyte culture is linear-square dependent on the X-irradiation at doses from 0.0 to 4.0 Gy. Positive correlation between frequency of cells with tailed nuclei and frequency of metaphases of first mitosis having dicentric and rings was established. Apparently, formation such TN is connected with dicentric and rings
The final product of the radwaste conditioning process must satisfy certain requirments and physico-chemical properties in order to assure its safe long-term behaviour. Of course, the foreseen quality assurance and quality control should be conducted by means of non-destructive techniques. This work presents an over-view of various applicable non-destructive methods of analysis, showing their fields of investigation in testing waste packages, together with some arising practical problems. The most promising methods, such as eddy current testing, ultrasonic testing, #gamma#-scanning, #gamma#-spectroscopy, neutron counting and computerized tomography, are treated more deeply and some applications are presented. Particular attention is devoted to the development of a device based on computerized tomography; its essential components are reported and some design problems are also discussed.
Point contact Josephson junctions can function as millimeter wave heterodyne mixers with conversion gain. The best results achieved thus far show a single sideband conversion gain of 1.3 and a mixer contribution to the system noise temperature of 54"0K. Both of these results are approximately 5 times better than the best published figures for cooled Schottky barrier diode mixers operated at the same frequency. The measured noise for a variety of junctions can be expressed as a universal function of the normalized rf frequency #OMEGA# = h#omega#/2eI/sub c/R. It is about a factor 2 larger than the calculated noise arising from the thermal noise in the junction shunt resistance, R. The noise calculation was done for the resistively shunted junction model using an analog junction simulator.
When operating a nuclear power plant the necessity arise to eliminate various defects of building constructions, to seal joints and transitional elements. The authors present data concerning the production of a sealing composition made of epoxy resin and used for NPP premises of emergency location. Analytical relations are presented between the properties of the composition (adhesion strength, water absorption and others) and its structure. Physical, mechanical and thermal properties and structural peculiarities are determined in the process of interaction between the filling and binding agents. The composition sustains sealing properties under environmental conditions at he presence of an air - vapour mixture with 160 degrees C"o temperature and 0.3 MPa surplus pressure. (author).
Many important advances in the physics of strongly correlated electron systems have been driven by the development of new materials: for instance the filled skutterudites Formula Not Shown ( Formula Not Shown metal, alkaline earth, lanthanide, or actinide; Formula Not Shown , Ru, or Os; Formula Not Shown , As, or Sb), certain lanthanide and actinide intermetallic compounds such as Formula Not Shown and Formula Not Shown ( Formula Not Shown , Rh, or Ir), and layered oxypnictides and related materials. These types of complex multinary d- and f-electron compounds have proven to be a vast reservoir of novel strongly correlated electron ground states and phenomena. In these materials, the occurrence of such a wide range of ground states and phenomena arises from a delicate interplay between com...
This essay aims to summarize the main physical features arising from a new supersymmetric theory of gravitation. Based on preliminary discussions about classical field theory, cosmology, algebra and group theory, and taking formal results and theoretical considerations in comparison with several contributions from great authors, present work deals with gravity inside the limits of a meta-field theory, that is, a non-quantized but consistent representation of supergravity, the supersymmetry between gravitons and gravitinos. The introduction of meta-fields furnishes an independent framework for the study of gravity despite of constraints of quantization, treating the supersymmetric partners as deterministic actors of gravitation and not simply probabilistic entities. I explain my belief that gravitational field, by its own nature, is not quantizable in the same foot as the other fields, what does not means that we can not understand gravity by similar formal veins. ...
Community ecologists are principally occupied with the proposition that natural assemblages of species exhibit orderliness and with identifying its causes. Plant-pollinator networks exhibit a variety of orderly properties, one of which is 'nestedness'. Nestedness has been attributed to various causes, but we propose a further influence arising from the phylogenetic structure of the biochemical constraints on the pollen diets of bees. We use an artificial assemblage as an opportunity to isolate the action of this mechanism. The properties of the network that we studied are consistent with the proposition that nestedness is caused by the phylogeny of diet range in bees, but the claim is preliminary and we propose that valuable progress in understanding plant-pollinator systems may be made through applying the techniques of chemical ecology at the community scale.
Multifractal detrended cross-correlation analysis (MF-DXA) has been developed to detect the long-range power-law cross-correlation of considered signals in the presence of non-stationarity. However, crossovers arising from extrinsic periodic trends make the scaling behavior difficult to analyze. We introduce a Fourier filtering method to eliminate the trend effects and systematically investigate the multifractal cross-correlation of simulated and real traffic signals. The crossover locations are found approximately corresponding to the periods of underlying trend. Traffic velocity on one road and flows on adjacent roads show strong cross-correlation. They also present weak multifractality after periodic trends are removed. The traffic velocity and flow are cross-correlated in opposite directions which is accordant to their actual evolution.
Recent improvements in cell purification and transplantation techniques have contributed to the identification of cell populations known as tumor-initiating cells (TIC). This discovery has led to the -cancer stem cell hierarchy- concept, which holds that tumors are organized as a hierarchy of malignant tissues sustained by such TIC. However, this concept remains controversial. In this review, we examine recent advances in cancer stem cell research that have been generated from studies of Philadelphia (Ph) chromosome-positive leukemia. The abnormal Ph chromosome, which arises from a translocation creating the BCR-ABL1 fusion gene, is most commonly associated with chronic myelogenous leukemia (CML) and precursor B cell acute lymphoblastic leukemia (B-ALL). Examination of the pathophysiology ...
There are two difficulties encountered in modeling valveless micropumps using lumped-element methods. The pressure loss coefficient for fluidic diodes used in valveless pumps to rectify flow depends on the flow direction. A problem arises in choosing the proper loss correlation because the flow direction is not known a priori. Another problem is the quadratic form of the equation for the flow through the fluidic diodes, which brings about multiple solutions. The above problems become even more serious in multi-chamber cases. They are overcome in this study by suitably formulating the flow resistance. In addition, the flow inertia is accounted for in the unsteady model. The steady and unsteady models are evaluated by comparing with CFD simulations, which also serve to illustrate the flow fi...
The first part of the study goes into the determination of efficient strategies for the reduction of air pollutants. The developed method is not only derived theoretically but is tested with the concrete example of emissions sources of a German state. The second part goes into the question what the government can do in order to attain that air pollution abatement measures recognized as being efficient will be put into practice. As market economy mechanisms have advantages over central state planning in the allocation of economic resources the question arises if not also for environmental protection market economy tools may contribute to an improvement of the efficiency of air pollution abatement. Therefore the suitability of different tools of environmental policy for the realization of efficient air pollution abatement is investigated and evaluated. This is again not done abstractly but with existing emission sources. (orig./HSCH). 32 figs., 12 tabs.
New market based approaches are becoming increasingly important as instruments of environmental policy. The two main market approaches, i.e., transferable pollution permits (experimented in America), and 'green' energy surcharges (European philosophy), are described and discussed. An analysis of information on their state of implementation shows that, in the case of the former method, the greatest sources of difficulty arise in the determination of acceptable ceiling levels of emissions, in the distribution of permits among the various polluting firms, and in the legality of granting rights to pollute. Instead, the European experience has evidenced that energy surcharges motivated by environmental policy cannot have an appreciable positive impact on consumers or the economic system in general unless they are accompanied by well defined measures geared towards the promotion or creation of alternative solutions such as to stimulate radical change in ...
Processing of symbolic sequences represented by mapping of symbolic data into numerical signals is commonly used in various applications. It is a particularly popular approach in genomic and proteomic sequence analysis. Numerous mappings of symbolic sequences have been proposed for various applications. It is unclear however whether the processing of symbolic data provides an artifact of the numerical mapping or is an inherent property of the symbolic data. This issue has been long ignored in the engineering and scientific literature. It is possible that many of the results obtained in symbolic signal processing could be a byproduct of the mapping and might not shed any light on the underlying properties embedded in the data. Moreover, in many applications, conflicting conclusions may arise due to the choice of the mapping used for numerical representation of symbolic data. In this paper, we present a novel framework for the analysis of the equivalence of the ...
We report the delayed sequelae arising in a case of electrical injury, reviewing the literature on the subject and focusing on the MRI findings of the brain. A 23-year-old male suffered burns to the left parietal scalp, both feet, and the anterior chest wall. Neurological symptoms and MRI abnormalities appeared 14 days after the insult and continued for about three months. T1-weight MR images demonstrated homogeneous hypointensity, while T2-weighted images depicted hyperintense finger-like projections. Contrast-enhanced T1-weighted images demonstrated strong band-like enhancement, indicating meningeal hyperemia. Follow-up MR imaging showed that the lesion had disappeared, indicating that the cerebral edema and meaningeal hyperemia were reversible.
Numerical simulations are used to test the kinetic theory constitutive relations of inertial granular shear flow. These predictions are shown to be accurate in the dilute regime, where only binary collisions are relevant, but underestimate the measured value in the dense regime, where force networks of size $\\xi$ are present. The discrepancy in the dense regime is due to non-collisional forces that we measure directly in our simulations and arise from elastic deformations of the force networks. We model the non-collisional stress by summing over all paths that elastic waves travel through force networks. This results in an analytical theory that successfully predicts the stress tensor over the entire inertial regime without any adjustable parameters.
Local control of Ewing's sarcoma was analysed in a series of 67 patients treated by surgery and/or radiotherapy as well as combination chemotherapy. Radiotherapy was employed with or without surgery in 60 patients and produced an overall local control rate of 55%; complete excision of the primary lesion seemed to be beneficial. There was a marked variation in control rates depending on the site of the primary lesion: limb 85%, rib 53%, pelvis 31% and other sites 33%.Primary tumours greater than 10 cm in diameter were significantly less likely to be controlled. Using daily fractions of approximately 180 cGy, total doses in excess of 6000 cGy seem more likely to produce serious late morbidity amd may not increase the local control rate. No cases of second malignancy arising in irradiated tissue have been observed to date, but one patient developed acute lymphoblastic leukaemia. (author).
In this study, we use electron paramagnetic resonance (EPR), optical absorption, and photoluminescence (PL) spectroscopies to determine the various Ce environments in SrS phosphor materials and how these affect absorption and emission properties. As the Ce concentration is increased from 450 to 7500 ppm, the total EPR-active Ce"3"+ and optical absorption signals increase linearly with Ce concentration; by contrast, the PL intensity saturates at fairly low Ce concentrations (1000 ppm Ce). We suggest that the nonlinear behavior of the PL arises from the presence of nonradiative deexcitation pathways such as defects associated with Ce sites, or Ce endash Ce pairs. copyright 1996 American Institute of Physics.
The bandwidth of LIGO-like terrestrial interferometric gravitational wave detectors is set by the pole of the Fabry-Perot cavities within the arms of the Michelson interferometer. This constraint arises because the gain of gravitational wave-induced signal sidebands is limited to frequencies within the linewidth of the cavities. The nature of standard Fabry-Perot cavities is such that one cannot independently adjust for increased gain without suffering a loss of bandwidth. If these quantities could be decoupled, the resulting improvement in bandwidth may lead to viable high frequency detectors. A pair of anti-parallel diffraction gratings within a Fabry-Perot cavity can increase the bandwidth of a LIGO-scale detector by a factor of #approx#1000.
As the world's largest creditor nation, with some of the world's largest banks and leading industries, Japan is often portrayed as an economic and financial superpower. With long-established 'Western-style' financial institutions to represent it in all the world's major financial capitals and markets, a technologically savvy Japan is often said to be positioning itself to lead Asia, the Asia/Pacific region, or even the entire world, into the marvels of the twenty-first century. Against this continuing rhetorical backdrop, however, fundamental questions arise as to Japan's ability to internationalize in today's increasingly globalized world economy. Domestically, only a very limited presence is permitted to the foreigner in the Japanese economy, especially in the commanding heights of finan...
The study concerns the assessment of the state of the environment in Lebanon and the identification of policy options has three specific objectives namely to determine the conditions of the environment in Lebanon after years of wars (1975-1992); to identify environmentals trends associated with Lebanon's development and to assess their sustainability; to identify policy options for environmental management. Issues of the environment concerned are both the brown issues e.g. the management of wastes and effluent arising from human activitiesand green issues, the natural resource base defined through main receptors:air, water (including coastal waters), land and terrestrial ecology sectors such as agriculture, industry, energy, transport, tourism and fisheries, population and human settlements are also studied
In this paper we prove the existence of isomorphisms between certain non-commutative algebras that are interesting from representation theoretic perspective and arise as quantizations of certain Poisson algebras. We show that quantizations of Kleinian resolutions obtained by three different constructions are isomorphic to each other. The constructions are via symplectic reflection algebras, quantum Hamiltonian reduction, and W-algebras. Next, we prove that parabolic W-algebras in type A are isomorphic to quantum Hamiltonian reductions associated to quivers of type A. Finally, we show that the symplectic reflection algebras for wreath-products of the symmetric group and a Kleinian group are isomorphic to certain quantum Hamiltonian reductions. Our results involving W-algebras are new, while for those dealing with symplectic reflection algebras we just give new proofs. A key ingredient in our proofs is the study of quantizations of symplectic resolutions of ...
The program introduced here for determining and describing the multi-axial creep of pipes is based, on the one hand, on the results of the nuclear process heat prototype plant material program and, on the other hand, on the possible load conditions which arise for evaluating accidents or extreme working situations. The basis of a theoretical description of multi-axial creep is the invariant theory in which both the von Mises configuration change hypothesis and the Norton creep law are included. Combined tension and torsion are also considered in detail, the superimposition of cyclic stresses in the tensile threshold area is discussed and cases of partial relaxation are explained. Experimental results for the discussed loads are introduced, which have led to satisfactory agreement between theory and experiment. (orig./MM).
The program introduced here for determining and describing the multi-axial creep of pipes is based, on the one hand, on the results of the nuclear process heat prototype plant material program and, on the other hand, on the possible load conditions which arise for evaluating accidents or extreme working situations. The basis of a theoretical description of multi-axial creep is the invariant theory in which both the von Mises configuration change hypothesis and the Norton creep law are included. Combined tension and torsion are also considered in detail, the superimposition of cyclic stresses in the tensile threshold area is discussed and cases of partial relaxation are explained. Experimental results for the discussed loads are introduced, which have led to satisfactory agreement between theory and experiment. (orig./MM).
Intermediate products of the conversions of 6-aminophenalenone in ethanol were investigated by pulse radiolysis. In alkaline medium the main product is the 6-aminophenalenone radical cation, the optical absorption spectrum of which contains two bands with maxima at 355 and 400 nm. The precursors of this particle are e_s, CH_3CHOH and CH_3CHO"- radicals. In neutral and acid medium, radical cations are protonated in reactions with alcohol and hydrogen ions. The H-adduct of 6-aminophenalenone that arises has optical absorption maxima at 350 and 390 nm. The presence of two maxima is due to two different structures of the product. The molar extinction coefficients of the radical anions and H-adducts of 6-aminophenalenone and the rate constants of the reactions involving them were estimated. 6 refs., 4 figs., 2 tabs.
Causal paradoxes arising in the tachyon theory have been systematically solved by using the reinterpretation principle as a consequence of which cause and effect no longer retain an absolute meaning. However, even in the tachyon theory, a cause is always seen to chronologically precede its effect, but this is obtained at the price of allowing cause and effect to be interchanged when required. A recent result has shown that this interchange-ability of cause and effect must not be unlimited if heavy paradoxes are to be avoided. This partial recovery of the classical concept of causality has been expressed by the conjecture that transcendent tachyons cannot be absorbed by a tachyon detector. In this paper the directional properties of the flow of information between two observers in relative motion and its consequences on the logical self-consistency of the theory of superluminal particles are analyzed. It is shown that the above conjecture does not provide a ...
The Seventh Meeting of the Conference of the Parties (2004) of the Convention on Biological Diversity established a mandate for the negotiation of an international regime on Access to Genetic Resources and Benefit Sharing arising from their utilization. Negotiations have been proceeding and have entered the final phase. Seven working group meetings have been held to date and there is expectation that an instrument will emerge by the final deadline - the Tenth Meeting of the Conference of the Parties in Nagoya, Japan in October 2010. A key component singled out for inclusion in the international regime relates to the recognition and protection of the rights of indigenous and local communities (ILCs) over their traditional knowledge (TK) associated with genetic resources. The Ninth Meeting o...
Abstract Alkali tolerance and the mechanism of microcystin (MC) degradation were investigated in the MC-degrading bacterial species, Sphingopyxis sp. C-1, to better understand the increased MC degradation under the alkaline conditions that arise during the disappearance of water blooms. MC-degrading bacteria harbour mlrA, mlrB and mlrC that encode MC-degrading enzymes. Sphingopyxis sp. C-1 also possesses these genes, as well as the mlrD gene that has been assumed to encode MC and its degradation transporter. This study demonstrated that MC degradation activity was promoted by the intermittent addition of microcystin-LR (MCLR) to cultures of strain C-1. That the expression of mlrA, mlrB and mlrC is induced by MCLR also was indicated, whereas that of mlrA and mlrB is induced by the MCLR degr...
The primary responsibility of the Health, Safety, and Environment (HSE) Division at the Los Alamos National Laboratory is to provide comprehensive occupational health and safety programs, waste processing, and environment protection. These activities are designed to protect the worker, the public, and the environment. Many disciplines are required to meet the responsibilities, including radiation protection, industrial hygiene, safety, occupational medicine, environmental science, epidemiology, and waste management. New and challenging health and safety problems arise occasionally from the diverse research and development work of the Laboratory. Research programs in HSE Division often stem from these applied needs. These programs continue but are also extended, as needed to study specific problems for the Department of Energy and to help develop better occupational health and safety practices.
The main objectives of research in the field of health effects at the Belgian Nuclear Research Centre SCK-CEN are: (1) to study cancer mortality and morbidity in nuclear workers in Belgium; (2) to document the feasibility of retrospective cohort studies in Belgium; (3) to participate in the IARC study; (4) to elucidate the mechanisms of the effects of ionizing radiation on the mammalian embryo during the early phases of its development; (5) to assess the genetic risks of material exposure to ionizing radiation; (6) to elucidate the cellular mechanisms leading to brain damage after prenatal irradiation; (7) to advise authorities and to provide the general population with adequate information concerning the health risk arising from radiation exposure. Progress and major achievements in these topical areas for 1997 are reported.
An analysis of the cross section for hadronic production of gluino-squark pairs close to threshold is presented. Within the framework of non-relativistic QCD a significant enhancement compared to fixed order perturbation theory is observed which originates from the characteristic remnants of the gluino-squark resonances below the nominal pair threshold. The analysis includes all colour configurations of S-wave gluino-squark pairs, i.e. triplet, sextet and 15 representation. Matching coefficients at leading order are separately evaluated for all colour configurations. The dominant QCD corrections, arising from initial- and final-state radiation are included. The non-relativistic dynamics of the gluino pair is solved by calculating the Green's function in Next-to-Leading Order (NLO). The results are applied to benchmark scenarios, based on Snowmass Points and Slopes (SPS). As a consequence of the large decay rate of at least one of the constituents squark or gluino ...
The dynamics of state of the crystallite-containing magma is studied within the framework of the gas-dynamic model of bubble cavitation. The effect of crystallites on flow evolution is considered for two cases: where the crystallites are cavitation nuclei (homogeneous-heterogeneous nucleation model) and where large clusters of crystallites are formed in the magma in the period between eruptions. In the first case, decompression jumps are demonstrated to arise as early as in the wave precursor; the intensity of these jumps turns out to be sufficient to form a series of discrete zones of nucleation ahead of the front of the main decompression wave. Results of experimental modeling of an explosive eruption with ejection of crystallite clusters (magmatic ?bombs??) suggest that a cocurrent flow...
The nature of the `inner engine' that accelerate and collimate the relativistic flow at the cores of GRBs is the most interesting current puzzle concerning GRBs. Numerical simulations have shown that the internal shocks' light curve reflects the activity of this inner engine. Using a simple analytic toy model we clarify the relations between the observed $ \\gamma $-rays light curve and the inner engine's activity and the dependence of the light curves on the inner engine's parameters. This simple model also explains the observed similarity between the observed distributions of pulses widths and the intervals between pulses and the correlation between the width of a pulse and the length of the preceding interval. Our analysis suggests that the variability in the wind's Lorentz factors arises due to a modulation of the mass injected into a constant energy flow.
Bargmann's superselection rule, which forbids the existence of superpositions of states with different mass and, therefore, implies the impossibility of describing unstable particles in non-relativistic quantum mechanics, arises as a consequence of demanding Galilean covariance of Schr\\"odinger's equation. However, the usual Galilean transformations inadequately describe the symmetries of non-relativistic quantum mechanics since they fail to take into account relativistic time contraction effects which can produce non-relativistic phases in the wavefunction. In this paper we describe the incompatibility between Bargmann's rule and Lorentz transformations in the low-velocities limit, we analyze its classical origin and we show that the Extended Galilei group characterizes better the symmetries of the theory. Furthermore, we claim that a proper description of non-relativistic quantum mechanics requires a modification of the notion of spacetime in the corresponding ...
In many drug dispensing devices, such as syringes and inhalers, an elatomeric gasket is used to prevent the formulation from leaking from the chamber. During device actuation, the seal is subjected to friction, which in turn causes its deformation and can cause unintentional leakage, thus dose variability. Additionally, friction of seal is responsible for a host of potential problems such undue effort required for actuation and potential wear. The mechanism of friction generation in the seal conjunction is complex, arising from adhesion of rubber in contact with the moving interface, viscous action of a thin film of fluid and deformation of seal asperities. Therefore, the first step in understanding the conjunctional behaviour of rubber seals is a fundamental study of mechanisms of frictio...
The purpose of this note is to provide guidance to those who have duties under the Health and Safety at Work Act and other relevant legislation. It gives guidance on the practical application of legislation, concerning radiotherapy equipment. Two particular issues arise out of the requirements of Regulation 33 of the Ionising Radiations Regulations 1985 (IRR85) in relation to equipment which is used for medical exposures. These are the requirement to select, install and maintain this type of equipment in such a way that it is capable of restricting, so far as reasonably practicable, the medical exposure of any person where this is compatible with the intended clinical purpose, including the need to ensure that equipment used for radiotherapy is properly calibrated, and the requirement to notify the Health and Safety Executive (HSE) when an incident occurs involving a malfunction or defect in any 'radiation equipment' which gives rise to a medical ...
This grant has focused on the study of several aspects of electron kinetics in low pressure plasmas. Entirely new effects arise from the fact that the electron kinetics is governed by non-local effects, in which the electron distribution function is not equilibrium with the local electric field but is governed by spatial transport effects. In this grant, we were able to demonstrate several previously un-studied effects which are a direct result of the nonlocal transport. These are: (1) The existence of a ''convective cell' in electron phase space. The phenomenon was observed and studied in CW plasma conditions. (2) The occurrence of non-collisional cooling of electrons through an effect known as ''diffusive cooling''.
The Warm-Hot Intergalactic Medium (WHIM) arises from shock-heated gas collapsing in large-scale filaments and probably harbours a substantial fraction of the baryons in the local Universe. Absorption-line measurements in the ultraviolet (UV) and in the X-ray band currently represent the best method to study the WHIM at low redshifts. We here describe the physical properties of the WHIM and the concepts behind WHIM absorption line measurements of H I and high ions such as O VI, O VII, and O VIII in the far-ultraviolet and X-ray band. We review results of recent WHIM absorption line studies carried out with UV and X-ray satellites such as FUSE, HST, Chandra, and XMM-Newton and discuss their implications for our knowledge of the WHIM.
Purpose - The purpose of this paper is to explain some tax management complications for onshore and offshore hedge funds posed by US FIN 48, Uncertain Tax Positions, and to emphasize the hedge fund manager's responsibility for careful tax planning and compliance. Design/methodology/approach - The paper discusses a hedge fund's objective to deliver tax-efficient results to investors, explains the background of FIN 48, and illustrates five types of situations in which conservative auditors following FIN 48 may raise "red flags." Findings - With the advent of FIN 48's standards careful tax planning and compliance are more important than ever for a hedge fund. Significant complications may arise from unwise, tardy, or missed tax elections; filing an IRS Form 8275, Disclosure Statement, stating...
In the paper presented, an attempt is made to describe quantitatively the room air motion by diffuse air distribution. Since solving the problem theoretically, seems to be hopeless at present, only an experimental solution seems to promise success. Experiments with diffuse air distribution offer suitable preconditions. With this kind of air introduction into the room, a relatively regular distribution of room air motion can be expected. A further simplification will be achieved by isotherme flow conditions. The first goal of the experiments was to establish whether the velocities measured are reproducible to demonstrate, and can be brought into a functional connection. The room air motion is a measured value which changes temporarily and locally quite largely, far more than is customary with technical measurements. From there, a second task arises, i.e. to evaluate the fluctuation of the velocity registered by its quantity in an appropriate measurement. (orig.).
In this paper experimental observations and a theoretical analysis of periodic radiation bursts and macropulse formation in the start-up phase of a free-electron laser (FEL) oscillator are presented. This microwave FEL uses a long pulse electron beam with a slowly decaying voltage. The output radiation consists of a superposition of bell-shaped macropulses, each of which is composed of a periodic sequence of short micropulses. The micropulses are separated by a cavity round-trip time. Each bell-shaped macropulse has a random start-up time and amplitude. The startup of the radiation macropulses is correlated with random current spikes on the continuous electron beam. The observed macropulse signal agrees with a theoretical calculation of the impulse response of the FEL oscillator when the shift in the FEL resonance frequency arising from the slow voltage drop of the electron beam is included in the analysis. Possible applications of the macropulse formation ...
The risks from mining and processing of ores is reviewed on a generic basis with particular reference to some of the confusions which can arise due to lack of consistency or common logic in the use of exclusion, exemption and clearance. The difference in exclusion and exemption are challenged by comparing doses received in high background radiation areas and the doses received from a mining practice. The common principle of risk to the human species is not applied consistently. The differences between IAEA recommendations and local regulatory conditions are compared, and the use of exemption levels as clearance levels is considered. A case study on management of mine tailings is presented with special focus on the use of clearance levels. In all areas of review the interpretation of regulation is subject to confusion resulting from inconsistencies which can distort free market economics. (author).
A first-principles quasiparticle approach to the electronic excitation energies in crystals and at surfaces is described. The quasiparticle energies are calculated within the GW approximation for comparison with photoemission and other spectroscopic experiments. Applications of the method to bulk semiconductors and the Si(111)2[times]l, Ge(111)2[times]l. and H/Si(III) surfaces are presented. In both cases, significant self-energy corrections arising from many-electron effects to the excitation energies are found. Using atomic positions from total energy minimization, the calculated excitation energies explain quantitatively the experimental spectra. This approach thus provides an ab initio means for analyzing and predicting results from spectroscopic probes.
Abstract- In our reply to M. H. van IJzendoorn and M. J. Bakermans-Kranenburg (this issue) and R. A. Thompson (this issue), we highlight 2 challenges that attachment researchers face today: (a) closing the gap between the developmental and social psychological traditions and (b) connecting attachment theory to the broader field of evolutionary psychology. We contend that an evolutionary life history approach can contribute to both goals and argue that attachment researchers should consider moving beyond some of Bowlby's original formulations in order to permit further advancement of the field. Finally, we review van IJzendoorn and Bakermans-Kranenburg's criticism of the hypothesis that sex differences in attachment arise in middle childhood; we conclude that the claim that the hypothesis h...
Background Fracture healing in osteoporosis is delayed. Quality and speed of fracture healing in osteoporotic fractures are crucial with regard to the outcome of patients. The question arises whether established antiosteoporotic drugs can further improve fracture healing. Materials and methods Osteoporosis manifests predominantly in the metaphyseal bone. Nevertheless, an established metaphyseal fracture model is lacking. A standardized metaphyseal fracture-healing model with stable plate fixation was developed for rat tibiae. The healing process was analyzed by biomechanical, gene expression, and histomorphometric methods in ovariectomized (OVX) and sham-operated rats (SHAM), compared to standardized estrogen (E)- and raloxifene (R)-supplemented diets. Results Estrogen and raloxifene impro...
New non-stationary non-contracted form of the erosive radially-slotted discharge as a thin round sheet with the current of the azimuth direction have been discovered, its existence beings stipulated by a radial transport-wave fluxes. Characteristic features of this discharge is self-confinement of the discharge current magnitude, corresponding decrease of the current pulse duration and occurrence of an energy and substance ejection with rather unusual properties. Measurements of kinetics of the discharge current, the plasma radiation intensity and an electrical probe signal, as well as the transmission electron microscope investigations of characteristic aerodisperse aggregates arising the erosive phase, have been carried out. The probe signal duration was about 10 times greater than that of the current; its kinetics was complicated suggesting existence in the slot of two components with fundamentally different properties and states of the substance.
Investigations were conducted on the range of emission rates of NO, NO[sub 2], CO and hydrocarbons, and the thermal efficiencies produced by each burner on three production cookers, supplied by different Australian manufacturers. It was found that the emissions and efficiencies were markedly affected by (1) the thermal input, both with and without a load on the burner, and (2) the load-height to flame-length ratio, with a load on the burner. The effect of hydrocarbon leakage into the secondary/dilution air was investigated, to explain the observed correlation of hydrocarbon emission rate with dilution air flow. The hydrocarbons were found to arise from two sources: -leakage from the stabilisation ports at the base of the burner, which was found to be significant at the higher thermal input; -incomplete combustion of the fuel in the premix, which was the dominant source of hydrocarbons emissions at the lower thermal input. (author)
The electron-phonon spectral distribution function #alpha#"2(#omega#) F (#omega#) has been calculated for niobium. The electron energy bands and wave functions were obtained from a self-consistent augmented-plane-wave muffin-tin potential, and the electron-phonon matrix elements were evaluated using the so-called rigid-ion approximation. With this approximation it is found that #alpha#"2(#omega#) is constant over the whole energy spectrum. The electron-phonon mass enhancement has also been calculated for local regions of the Fermi surface and found to be anisotropic. The calculated local values of the enhancement do not agree with experimental values available for different orbits from de Haas--van Alphen measurements. The discrepancy seems to arise because the bare-rigid-ion matrix elements are relatively small between states with nearly pure l = 2 character.
This research investigated the influence of stearic acid on the injection molding of alumina, by varying the concentration of stearic acid. The interaction between stearic acid and alumina was identified using transmission infrared spectroscopy, indicating stearic acid preferentially adsorbed onto the alumina powder surface. In addition to slightly modifying the intrinsic binder viscosity, stearic acid adsorbed onto the powder surface changed the flow behavior of the mixtures from dilatant flow to pseudoplastic flow at low temperatures. As a result, inhomogeneous distribution of binder in the injection-molded parts was minimized with increased stearic acid concentration. However, the possibility of forming bubbles in the mixtures arising from vaporization of stearic acid was enhanced. Additionally, the binder burnout temperature range was broadened with the increase of stearic acid concentration.
A new mathematical framework is formulated to derive the effective equations of motion for the constrained quantum system which possesses an internal clock. In the realm close to classical behavior, the quantum evolution is approximated by a finite system of coupled but ordinary differential equations adhered to the weakly imposed Hamiltonian constraint. For the simplified version of loop quantum cosmology in the Bianchi I model with a free massless scalar filed, the resulting effective equations of motion affirm the bouncing scenario predicted by the previous studies: The big bang singularity is resolved and replaced by the big bounces, which take place up to three times, once in each diagonal direction, whenever the directional density approaches the critical value in the regime of Planckian density. It is also revealed that back-reaction arises from the quantum corrections and modifies the precise value of the directional density at the bouncing epoch. ...
BACKGROUND: The correlation between pesticide residue levels and formulation of an active substance is often not considered, even if it is reasonable to expect some differences arising from behaviour during dilution and spraying, from adhesion to plant and from degradation. An experimental study to investigate the magnitude of tebuconazole residues as a function of different tebuconazole formulated products was carried out in Italy. The fungicide was applied as wettable powder (WP) and water-dispersible granule (WG) formulations to peach, plum, apricot and nectarine orchards, on four different sites. The fruit samples gained from the field trials were quantitatively analysed by gas chromatography with a nitrogen phosphorus detector (GC/NPD) for tebuconazole residues. RESULTS: Tebuconazole ...
This document is the report of a task group of the Radiation Therapy Committee of the AAPM and has been prepared primarily to advise hospital physicists involved in external beam treatment of patients with pelvic malignancies who have high atomic number (Z) hip prostheses. The purpose of the report is to make the radiation oncology community aware of the problems arising from the presence of these devices in the radiation beam, to quantify the dose perturbations they cause, and, finally, to provide recommendations for treatment planning and delivery. Some of the data and recommendations are also applicable to patients having implanted high-Z prosthetic devices such as pins, humeral head replacements. The scientific understanding and methodology of clinical dosimetry for these situations is still incomplete. This report is intended to reflect the current state of scientific understanding and technical methodology in clinical dosimetry for radiation oncology patients ...
To study the defect creation induced by electronic processes in refractory oxides, MgO single crystals were irradiated with high energy tin, uranium and lead ions. Optical absorption measurements showed that F-type centers (oxygen vacancies with trapped electrons) were created during irradiation. The total number of centers per unit area of bombarded sample increases linearly with irradiating fluence. The main part of the point defects was found to arise from electronic processes. The concentration of F-type centers induced by ionization increases with the electronic energy losses. Assuming a saturation of point defect concentration at high fluences, F-type center creation cross sections could be estimated. The influence of irradiation temperature and of the velocity of the bombarding ions are discussed.
We consider a minimal model of GUT scalar dark matter (DM) stabilized by the discrete gauge matter parity $P_{X}$ that arises from breaking of $SO(10)$. The dark sector comprises the complex singlet $S$ and the inert doublet $H_{2}$. GUT scale parameters are evaluated to the electroweak scale via Renormalization Group Equations (RGEs). Experimental and theoretical constraints limit the DM mass to the 80 GeV to 2 TeV range. The EW symmetry breaking is radiative and can occur via RGE running and 1-loop matching corrections from integrating out DM. Because the next-to-lightest scalar is almost degenerate with DM, it gives a background free displaced decay vertex at the LHC.
Both cultural inheritance and cultural diversification of diets may play an important role in animal evolution. Here we studied how diet innovation and cultural change relate to cultural inheritance in a changing environment. We did this by studying diet cultures in group foragers adapting to environmental change through learning, and the consequences this has for diet differentiation between groups. We used an individual-based model of `monkeys' that learn what to eat in a rich environment, and we changed resource species that are available in the environment. Relative to social influences on learning that arise spontaneously in groups, we found that more direct social learning, in the sense of observing another individual and copying what it eats, helps groups deal with high levels of en...
We study the ground state of an ideal coupled two-component gas of ultracold atoms in a one dimensional optical lattice, either bosons or fermions. Due to the internal two-level structure of the atoms, the Brillouin zone is twice as large as imposed by the periodicity of the lattice potential. This is reflected in the Bloch dispersion curves, where the energy bands regularly possess several local minima. As a consequence, when the system parameters are tuned across a resonance condition, a non-zero temperature topological first order phase transition occurs which arises from an interplay between initernal and kinetic atomic energies. It is shown that these phenomena are also captured for two and three dimensional optical lattices.
The relativistic time dilation is reviewed in a cosmological context. We show that a clock or twin paradox does not arise if cosmic time is properly taken into account. The receding galaxy background provides a unique frame of reference, and the proper times of geodesic as well as accelerated observers can be linked to the universal cosmic time parameter. This suggests to compare the proper time differentials of the respective observers by determining their state of motion in the galaxy grid. In this way, each observer can figure out whether his proper time is dilated or contracted relative to any other. In particular one can come to unambiguous conclusions on the aging of uniformly moving observers, without reference to asymmetries in measurement procedures or accelerations they may have undergone.
We investigate the extent to which the pure magnification effect of gravitational lensing can be extracted from galaxy clustering statistics, by a nulling method which aims to eliminate terms arising from the intrinsic clustering of galaxies. The aim is to leave statistics which are free from the uncertainties of galaxy bias. We find that nulling can be done effectively, leaving data which are relatively insensitive to uncertainties in galaxy bias and its evolution, leading to cosmological parameter estimation which is effectively unbiased. This advantage comes at the expense of increased statistical errors, which are in some cases large, but it offers a robust alternative analysis method to cosmic shear for cosmological imaging surveys designed for weak lensing studies, or to full modelling of the clustering signal including magnification effects.
As lithium battery technology sets out to bridge the gap between portable electronics and the electrical automotive industry, cathode materials still stand as the bottleneck regarding performances. In the realm of highly attractive polyanion-type structures as high-voltage cathode materials, the sulfate group (SO4)^2^- possesses an acknowledged superiority over other contenders in terms of open circuit voltage arising from the inductive effect of strong covalent S-O bonds. In parallel, novel lithium insertion mechanisms are providing alternatives to traditional intercalation, enabling reversible multi-electron processes securing high capacities. Combining both of these advantageous features, we report here the successful electrochemical reactivity of copper sulfate pentahydrate (CuSO4.5H2O...
Neutron stars are sensitive laboratories for testing general relativity, especially when considering deviations where velocities are relativistic and gravitational fields are strong. One such deviation is described by dynamical, Chern-Simons modified gravity, where the Einstein-Hilbert action is modified through the addition of the gravitational parity-violating Pontryagin density coupled to a field. This four-dimensional effective theory arises naturally both in perturbative and non-perturbative string theory, loop quantum gravity, and generic effective field theory expansions. We calculate here Chern-Simons modifications to the properties and gravitational fields of slowly spinning neutron stars. We find that the Chern-Simons correction affects only the gravitomagnetic sector of the metric to leading order, thus introducing modifications to the moment of inertia but not to the mass-radius relation. We show that an observational determination of the moment of ...
Silicon sensors have about ten times improved radiation hardness around 130 K temperature, compared with the state-of-art sensors close to room temperature. This is based on the Lazarus effect studied by the RD39 Collaboration of CERN. Other benefits of low temperatures will also be discussed. We shall describe the conceptual design of low-mass detector modules cooled using two-phase flow of argon in miniature cooling pipes integrated in the module structure between the sensors and the readout hybrid circuit. The main engineering features of the cooling system and mechanical support structures are discussed, as well as the benefits arising from the operation of the tracker under cryogenic vacuum. 4 Refs.
Colorectal cancer (CRC) is the most common cause of cancer death among Canadian non-smokers. Each year about 21,500 Canadians are diagnosed with CRC. Ninety percent of cases occur in people aged 50 years or older. An estimated 4,800 Canadian men and 4,100 Canadian women die each year from the disease. About 75% of all new CRC cases arise in people with no known risk factors. Computed tomography colonography (CTC), a cross-sectional imaging examination that permits complete structural examination of the colon, shows promise as a tool for CRC screening. This article reviews the rationale for CRC screening, currently recommended Canadian and American screening guidelines and screening tools, and current evidence supporting CTC as a CRC screening tool and its advantages over conventional screening methods. (author)
Colorectal cancer (CRC) is the most common cause of cancer death among Canadian non-smokers. Each year about 21,500 Canadians are diagnosed with CRC. Ninety percent of cases occur in people aged 50 years or older. An estimated 4,800 Canadian men and 4,100 Canadian women die each year from the disease. About 75% of all new CRC cases arise in people with no known risk factors. Computed tomography colonography (CTC), a cross-sectional imaging examination that permits complete structural examination of the colon, shows promise as a tool for CRC screening. This article reviews the rationale for CRC screening, currently recommended Canadian and American screening guidelines and screening tools, and current evidence supporting CTC as a CRC screening tool and its advantages over conventional screening methods. (author)
The main sources of energy that might be available in remote low populated areas of Libya are either diesel generating units or wind mills for water pumping. Several problems in the working performance of these two types of energy production may arise due to environmental conditions. Direct conversion of solar energy can replace other ways of energy delivery or production, especially in this country where the solar radiation all year is relatively high. Direct conversion of solar energy is relatively expensive, however the cost of erecting long feeders and supervising them may be much more expensive than the usage of solar systems. This paper investigates the economics associated with either solutions of energy production. A case study is given in detail to supply one of the remote areas with a population of about 250. (author)
The effects of focused-ion-beam-induced damage on electrical properties of n-type Si are investigated by Schottky contacts. Crystalline Si is exposed to 10-30 keV focused ion beam (FIB), followed by Pt deposition under vacuum of 4x10"-"4 Pa. From current-voltage-temperature measurements, barrier heights of the Schottky contacts are found to increase almost linearly as the FIB energy increases, with the maximum increment of 0.29 eV. The increase is suggested to be related to the arising of acceptorlike defects and an amorphous layer due to FIB damages. A theoretical model is set up to quantitatively describe the barrier height changes.
Reducing implant energy is an effective way to eliminate transient enhanced diffusion (TED) due to excess interstitials from the implant. It is shown that TED from a fixed Si dose implanted at energies from 0.5 to 20 keV into boron doping-superlattices decreases linearly with decreasing Si ion range, virtually disappearing at sub-keV energies. However, for sub-keV B implants diffusion remains enhanced and x{sub j} is limited to {ge} 100 nm at 1,050 C. The authors term this enhancement, which arises in the presence of B atomic concentrations at the surface of {approx} 6%, Boron-Enhanced-Diffusion (BED).
Circadian rhythms affect several processes in the body physiology. This commentary revisits the topic of `metabolic basis of diseases' with a view to shed light on how cellular energy requirements feed-forward to a sequential signaling of hormonal response, blood glucose metabolism, antioxidant activities, and pathophysiology. Attempt is made to explain how diseases that may not appear to be closely related, such as bone metabolism and vasculopathy, have an increase in oxidative damage as a common underlying biochemistry. Importantly, this article identifies oxidative damage as an outcome of sleep disturbance and hypothesize that sleep complaint is not merely one of many resulting symptoms of PTSD, but a core feature that arise from trauma and gives rise to the stress biochemistry, which i...
The task of designing high performance X-ray optical systemsrequires the development of sophisticated X-ray scattering calculationsbased on rigorous information about the optics. One of the mostinsightful approaches to these calculations is based on the powerspectral density (PSD) distribution of the surface height. The majorproblem of measurement of a PSD distribution with an interferometricand/or atomic force microscope arises due to the unknown ModulationTransfer Function (MTF) of the instruments. The MTF characterizes theperturbation of the PSD distribution at higher spatial frequencies. Here,we describe a new method and dedicated test surfaces for calibration ofthe MTF of a microscope. The method is based on use of a speciallydesigned Binary Pseudo-random (BPR) grating. Comparison of atheoretically calculated PSD spectrum of a BPR grating with a spectrummeasured with the grating provides the desired calibration of theinstrumental MTF. The theoretical ...
Bilateral breast carcinoma accounts for approximately 5% of all patients with breast cancer, while neuroendocrine breast carcinomas comprise less than 5% of invasive breast carcinomas. In addition, most patients with breast neuroendocrine carcinomas are older. Therefore, bilateral primary breast neuroendocrine carcinoma at a young age is extremely rare. We herein report bilateral neuroendocrine carcinoma of the breast in a 29-year-old woman who underwent bilateral lumpectomy with the initial symptom of bilateral nipple discharge. Grossly, the lesions in both breasts were masses with infinite margins. Histologically, this case was consistent with primary neuroendocrine carcinoma arising in bilateral breasts. Cells from both breast tumors were positive for chromogranin A, neuron-specific eno...
Estimation of mixed Weibull distribution by maximum likelihood estimation and other methods is frequently difficult due to unstable estimates arising from limited data. Bayesian techniques can stabilize these estimates through the priors, but there is no closed-form conjugate family for the Weibull distribution. This paper reduces the number of numeric integrations required for using Bayesian estimation on mixed Weibull situations from five to two, thus making it a more feasible approach to the typical user. It also examines the robustness of the Bayesian estimates under a variety of different prior distributions. It is found that Bayesian estimation can improve accuracy over the MLE for situations with low mixture ratios so long as the prior on the weak subpopulation's characteristic life has an expected value less than or equal to the true characteristic life.
A brief overview is given of a report on Emergency Core Cooling Systems (ECCS) Recirculation Reliability Knowledge Base compiled by the International Working Group on ECCS Reliability for the OECD/NEA/CSNI. Four safety issues are identified which arise in the context of loss of coolant accidents (LOCAs) and are connected with materials and/or processes that interfere with the ECCS safety function in ways other than just strainer head loss generation. They are: the generation of missiles during a LOCA from encapsulated insulation materials used to reduce insulation debris production; clogging of BWR pressure suppression containment vent pipes by insulation jackets or metallic insulation foil pieces; strainer or sump debris ingestion and the effects of ingested debris on ECCS equipment and core cooling; miscellaneous items such as material aging and self-cleaning strainer concepts. The emphasis is mainly on BWRs but many of the considerations also apply to PWRs. ...
We present a fully automated method for three-dimensional (3D) elemental analysis demonstrated using a ceramic sample of chemistry (Ca)MgTiO_x. The specimen is serially sectioned by a focused ion beam (FIB) microscope, and energy-dispersive X-ray spectrometry (EDXS) is used for elemental analysis of each cross-section created. A 3D elemental model is reconstructed from the stack of two-dimensional (2D) data. This work concentrates on issues arising from process automation, the large sample volume of approximately 17x17x10 #mu#m"3, and the insulating nature of the specimen. A new routine for post-acquisition data correction of different drift effects is demonstrated. Furthermore, it is shown that EDXS data may be erroneous for specimens containing voids, and that back-scattered electron images have to be used to correct for these errors.
We consider 4-dimensional space-times which are asymptotically flat at spatial infinity and show that, in the first order framework, action principle is well-defined \\emph{without the need of infinite counter terms.} It naturally leads to a covariant phase space in which the Hamiltonians generating asymptotic symmetries provide the total energy-momentum and angular momentum of the space-time. We address the subtle but important problems that arise because of logarithmic translations and super-translations both in the Langrangian and Hamiltonian frameworks. As a forthcoming paper will show, the treatment of higher dimensions is considerably simpler. Our first order framework also suggests a new direction for generalizing the spectral action of non-commutative geometry.
A fully consistent linear perturbation theory for cosmology is derived in the presence of quantum corrections as they are suggested by properties of inverse volume operators in loop quantum gravity. The underlying constraints present a consistent deformation of the classical system, which shows that the discreteness in loop quantum gravity can be implemented in effective equations without spoiling space-time covariance. Nevertheless, non-trivial quantum corrections do arise in the constraint algebra. Since correction terms must appear in tightly controlled forms to avoid anomalies, detailed insights for the correct implementation of constraint operators can be gained. The procedures of this article thus provide a clear link between fundamental quantum gravity and phenomenology.
Soya- and oats-lipoxygenase (E.C. 1.13.1.13) are incubated by "1"4C-marked linoleic acid. The volatile aldehydes arising thereby are isolated. The activity of the components separated by gaschromatography is written down by a printing indicator and the impulses/min are registered and printed out by a ratemeter. Thus the aldehydes which are produced by the enzymatic oxydation with lipoxygenase from the molecule of the linoleic acid can be determined. The composition of the mixture of aldehydes is calculated in mol-% from the measured impulses for peak. A possible origin of pathway is indicated for the main reaction products hexanal (soyalipoxygenase) and non-trans-2-enal (oats-lipoxygenase). (orig.).
The solution of the governing steady transport equations for momentum, heat and mass transfer in flowing fluids can be very difficult. These difficulties arise from the nonlinear, coupled, nonsymmetric nature of the system of algebraic equations that results from spatial discretization of the PDEs. In this manuscript the authors focus on evaluating a proposed nonlinear solution method based on an inexact Newton method with backtracking. In this context they use a particular spatial discretization based on a pressure stabilized Petrov-Galerkin finite element formulation of the low Mach number Navier-Stokes equations with heat and mass transport. The discussion considers computational efficiency, robustness and some implementation issues related to the proposed nonlinear solution scheme. Computational results are presented for several challenging CFD benchmark problems as well as two large scale 3D flow simulations.
Heterogeneous anisotropic diffusion problems arise in the various areas of science and engineering including plasma physics, petroleum engineering, and image processing. Standard numerical methods can produce spurious oscillations when they are used to solve those problems. A common approach to avoid this difficulty is to design a proper numerical scheme and/or a proper mesh so that the numerical solution validates the discrete counterpart (DMP) of the maximum principle satisfied by the continuous solution. A well known mesh condition for the DMP satisfaction by the linear finite element solution of isotropic diffusion problems is the non-obtuse angle condition that requires the dihedral angles of mesh elements to be non-obtuse. In this paper, a generalization of the condition, the so-called anisotropic non-obtuse angle condition, is developed for the finite element solution of heterogeneous anisotropic diffusion problems. The new condition is essentially the same ...
In the safety assessment of a high-level radioactive waste (HLW) disposal system, it is required to estimate radiological impacts on future human beings arising from potential radionuclide releases from a deep repository into the surface environment. In order to estimated the impacts, a biosphere model is developed by reasonably assuming radionuclide migration processes in the surface environment and relevant human lifestyles. It is important to modify the present biosphere models or to develop alternative biosphere models applying the biosphere models according to quality and quantify of the information acquired through the siting process for constructing the repository. In this study, alternative biosphere models were developed taking geosphere-biosphere interface of marine environment into account. Moreover, the flux to dose conversion factors calculated by these alternative biosphere models was compared with those by the present basic biosphere models. (author)
Conditions for the construction of polynomial eigen-operators for the Hamiltonian of collective string field theories are explored. Such eigen-operators arise for only one monomial potential v(x)=#mu#x"2 in the collective field theory. They form a w_#infinity#-algebra isomorphic to the algebra of vertex operators in 2d gravity. Polynomial potentials of orders only strictly larger or smaller than 2 have no non-zero-energy polynomial eigen-operators. This analysis leads us to consider a particular potential #nu#(x)=#mu#x"2+g/x"2. A Lie algebra of polynomial eigen-operators is then constructed for this potential. It is a symmetric 2-index Lie algebra, also represented as a subalgebra of U(sl(2)). (orig.).
The amygdala, perhaps more than any other brain region, has been implicated in numerous neuropsychiatric and neurodevelopmental disorders. It is part of a system initially evolved to detect dangers in the environment and modulate subsequent responses, which can profoundly influence human behavior. If its threshold is set too low, normally benign aspects of the environment are perceived as dangers, interactions are limited, and anxiety may arise. If set too high, risk taking increases and inappropriate sociality may occur. Given that many neurodevelopmental disorders involve too little or too much anxiety or too little of too much social interaction, it is not surprising that the amygdala has been implicated in many of them. In this chapter, we begin by providing a brief overview of the phy...
We discuss the renormalisation properties of the complete set of {delta}B=2 four-quark operators with the heavy quark treated in the static approximation. We elucidate the role of heavy quark symmetry and other symmetry transformations in constraining their mixing under renormalisation. By employing the Schroedinger functional, a set of non-perturbative renormalisation conditions can be defined in terms of suitable correlation functions. As a first step in a fully non-perturbative determination of the scale-dependent renormalisation factors, we evaluate these conditions in lattice perturbation theory at one loop. Thereby we verify the expected mixing patterns and determine the anomalous dimensions of the operators at NLO in the Schroedinger functional scheme. Finally, by employing twisted-mass QCD it is shown how finite subtractions arising from explicit chiral symmetry breaking can be avoided completely. (Orig.)
ABSTRACT We address the problem of angular momentum transport in stellar radiative interiors with a novel semi-analytic spectral technique, using an eigenfunction series expansion, that can be used to derive benchmark solutions in hydromagnetic regimes with very high Reynolds number (107-108). The error arising from the truncation of the series is evaluated analytically. The main simplifying assumptions are the neglect of meridional circulation and of non-axisymmetric magnetic fields. The advantages of our approach are shown by applying it to a spin-down model for a Formula Not Shown main-sequence star. The evolution of the coupling between core and envelope is investigated for different values of the viscosity and different geometries and values of the poloidal field. We confirm that a vi...
In the CERN approach to the design of a neutrino factory, the repetition frequency of the proton beam is high enough to consider stationary solid targets as a viable solution for multi-MW beams. The target consists of high density tantalum spheres of 2 mm diameter which can efficiently be cooled by passing a high mass flow He-gas stream through the voids between the Ta-granules. Very small thermal shocks and stresses will arise in this fine grained structure due to the relatively long burst of 3.3 ms from the SPL-proton linac. In a quadruple target system where each target receives only one quarter of the total beam power of 4 MW, conservative temperature levels and adequate lifetimes of the target are estimated in its very high radiation environment. A conceptual design of the integration of the target into the magnetic horn-pion-collector is presented.
To reconstruct the profiles of heavy metal levels in the South Ocean ecosystem of Antarctica, the concentrations of lead (Pb), copper (Cu), arsenic (As), cadmium (Cd), and zinc (Zn) in seal hairs and lake sediments spanning the past 1500?years from Fildes Peninsula of King George Island and in weathering lake sediments from Nelson Island of West Antarctica were determined. The lead contents in the seal hairs and the weathering sediments show a sharp increase since the late 1800s, very likely due to anthropogenic contamination from modern industries. After the 1980s, the Pb content in seal hairs dropped by one-third, apparently due to the reduced usage of leaded gasoline in the Southern Hemisphere. Copper arises mainly from the weathering process, and its level may be substantially affected...
Ion implantation is used at several critical stages of Si integrated circuit manufacturing. The authors show how #left brace#311#right brace# defects arising after implantation are responsible for both enhanced dopant diffusion during annealing, and stable dislocations post-anneal. They observe #left brace#311#right brace# defects in the earliest stages of an anneal. They subsequently undergo rapid Ostwald ripening and evaporation. At low implant doses evaporation dominates, and they can quantitatively relate the interstitials emitted from these defects to the transient enhancement in diffusivity of dopants such as B and P. At higher doses Ostwald ripening is significant, and they observe the defects to undergo a series of unfaulting reactions to form both Frank loops and perfect dislocations. They demonstrate the ability to control both diffusion and dislocations by the addition of small amounts of carbon impurities.
Fourier transform infrared (FTIR) difference spectra have been obtained for the bR----K, bR----L, and bR----M photoreactions in bacteriorhodopsin mutants in which Asp residues 85, 96, 115, and 212 have been replaced by Asn and by Glu. Difference peaks that had previously been attributed to Asp COOH groups on the basis of isotopic labeling were absent or shifted in these mutants. In general, each COOH peak was affected strongly by mutation at only one of the four residues. Thus, it was possible to assign each peak tentatively to a particular Asp. From these assignments, a model for the proton-pumping mechanism of bR is derived, which features proton transfers among Asp-85, -96, and -212, the chromophore Schiff base, and other ionizable groups within the protein. The model can explain the observed COOH peaks in the FTIR difference spectra of bR photointermediates and could also account for other recent results on site-directed mutants of bR.
Purpose/Objective: The role of programmed cell death (apoptosis) as a cellular response to cancer therapy such as radiation or chemotherapy is the subject of much study, and manipulation of the apoptotic response in tumor cells may be valuable in the treatment of a variety of cancers. Both p53 dependent and independent apoptotic pathways have been identified; p53 is mutated in at least 50 % of human cancers and a majority of radiation resistant tumors contain p53 mutations. This study is designed to examine the induction of programmed cell death in a human colon carcinoma cell line that possesses two mutated p53 alleles. Ionizing radiation alone, or in combination with the chemotherapeutic drug 5-fluorouracil (5-FU), were used to elicit the apoptotic response. This study will focus on whether these treatments can induce a significant apoptotic response in cells that have mutated p53 alleles. Materials ...
The origin of life and the origin of the universe represent two of the most important problems of science. Both are resolved by hydro-gravitational dynamics (HGD) cosmology (Gibson 1996, Schild 1996, Gibson 2009ab), which predicts frozen primordial hydrogen-helium gas planets in clumps as the dark matter of galaxies. Merging Earth-mass planets formed stars, moons and comets to incubate and cosmically seed the first life. Cometary panspermia (Hoyle and Wickramasinghe 1981, 1982; Wickramasinghe et al. 2009) occurs naturally by HGD mechanisms. Comets and moons are fragments from mergers of stardust covered frozen gas planets in their step-wise growth to star mass. Supernovae from stellar over-accretion of planets produce stardust (C, N, O, P etc.) chemical fertilizer. Planets collect this infected radioactive dust gravitationally, to provide liquid water domains in contact with life nutrients seeded with life prototypes. The first mutating, evolving, life from HGD ...
We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced ...
This report briefly describes the studies on the mechanism of in vivo DNA repairing by the author in Research Reactor Institute, Kyoto Univ. for the past 30 years. First, the ability of UV radiation to induce transformation was investigated with viral DNA. The formation of thymine-thymine dimer was found harmful to organisms and such dimers were removable by UV-radiation at a low frequency. The mutability was determined in three different E.coli strains with mutator gene, mutT, mutS or mutL. The ability to excise 8-oxoguanin developed in primer DNA was deficient in mutT and miss-pairing left after DNA replication could not be recovered in mutL and mutS strains. Further, DNA repairing mechanism was investigated in other microorganisms; single-strand cleavage caused by exposure to BNCB radiation (boron-neutron-captured beam) could not be repaired in E. coli. Whereas for Deinococcus radiodurans, of which survival rate was not decreased by #gamma#-ray radiation at 5 ...
Investigations into sexual differentiation and pheromone response in the fission yeast Schizosaccharomyces pombe are complicated by the need to first starve the cells of nitrogen. Most mating-related experiments are therefore performed on non-dividing cells. Here we overcome this problem by using two mutants that bypass the nutritional requirements and respond to the M-factor mating pheromone in rich medium. The first mutant lacks the cyr1 gene which encodes adenylate cyclase and these cells contain no measurable amounts of cAMP. When M-factor is added to a growing h+ cyr1- strain it causes a transient G1 arrest of cell division, transcription of mat1-Pm, and elongation of the cells to form shmoos. The second mutant contains the temperature-sensitive pat1-114 allele. At 30 degrees C this mutant was previously shown not only to bypass the nutritional signal but also to stop growing in a state derepressed for pheromone-controlled functions. We now report that an h+ pat1-114 strain ...
Ethidium bromide (EB) and ultraviolet light (UV) in combination are known to produce a synergistic induction of 'petite' mutants in yeast. Two other agents were combined with EB, 3-Carbethoxypsoralene (3 CPs) activated by 365 nm light or #gamma# rays. EB in combination with 3 CPs also resulted in an enhanced production of 'petite' mutants. After the photoaddition of 3 CPs in exponential phase cells, recovery of the 'petite' mutation during dark liquid holding was inhibited by the presence of EB producing an enhanced number of 'petite' mutants. The behavior of mitochondrial antibiotic resistance markers after individual and combined treatments with EB and 3 CPs indicates a random loss of markers after EB and a preferential loss of a certain region for the 3 CPs photoaddition. The combination of the two agents leads to an additivity of total drug marker losses rather than a synergistic loss. The combination of EB with #gamma# rays produced no enhancement in 'petite' ...
Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...
Homology analyses of the protein sequences of chicken liver and rat mammary gland fatty acid synthases were carried out. The amino acid sequences of the chicken and rat enzymes are 67% identical. If conservative substitutions are allowed, 78% of the amino acids are matched. A region of low homologies exists between the functional domains, in particular around amino acid residues 1059-1264 of the chicken enzyme. Homologies between the active sites of chicken and rat and of chicken and yeast enzymes have been analyzed by an alignment method. A high degree of homology exists between the active sites of the chicken and rat enzymes. However, the chicken and yeast enzymes show a lower degree of homology. The DADPH-binding dinucleotide folds of the {beta}-ketoacyl reductase and the enoyl reductase sites were identified by comparison with a known consensus sequence for the DADP- and FAD-binding dinucleotide folds. The active sites of all of the enzymes are primarily in hydrophobic regions of ...
A comprehensive dataset of NDV genome sequences was evaluated using bioinformatics to characterize the evolutionary forces affecting NDV genomes. Despite evidence of recombination in most genes, only one event in the fusion gene of genotype V viruses produced evolutionarily viable progenies. The codon-associated rate of change for the six NDV proteins revealed that the highest rate of change occurred at the fusion protein. All proteins were under strong purifying (negative) selection; the fusion protein displayed the highest number of amino acids under positive selection. Regardless of the phylogenetic grouping or the level of virulence, the cleavage site motif was highly conserved implying that mutations at this site that result in changes of virulence may not be favored. The coding sequence of the fusion gene and the genomes of viruses from wild birds displayed higher yearly rates of change in virulent viruses than in viruses of low virulence, suggesting that an ...
The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total cellular protein, and supported the ...
Evolutionary theory holds that aging is a consequence of the declining force of natural selection with age. We discuss here the evidence that among the causes of aging in complex multicellular organisms, such as mammals, is the antagonistically pleiotropic effects of the cellular responses that protect the organism from cancer. Cancer is relatively rare in young mammals, owing in large measure to the activity of tumor suppressor mechanisms. These mechanisms either protect the genome from damage and/or mutations, or they elicit cellular responses--apoptosis or senescence--that eliminate or prevent the proliferation of somatic cells at risk for neoplastic transformation.We focus here on the senescence response, reviewing its causes, regulation and effects. In addition, we describe recent data that support the idea that both senescence and apoptosis may indeed be the double-edged swords predicted by the evolutionary hypothesis of antagonistic pleiotropy--protecting ...
Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...
Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.