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
BackgroundDespite concerns that facilitating informed choice would decrease diabetes screening uptake, 'informed choice' invitations that increased knowledge did not affect attendance...Full Text Available
Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y chromosomal sequence in 75% of the male-bearing ...
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
DNA barcodes linked to genetic features greatly facilitatescreening these features in pooled formats using microarray hybridization, and new tools are needed to design large sets of barcodes to allow...Full Text Available
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 ...
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 ...
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).
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...
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 ...
Absorption with aqueous amine solvents is at present the most viable technology for CO{sub 2} capture. While this is a proven technology, efforts are ongoing to improve it in order to make it a more attractive technology for large scale use to reduce CO{sub 2} emissions. Finding solvents with better properties is one approach to improving the technology. In this thesis methods in computational chemistry are used to improve the understanding of the chemistry of CO{sub 2} absorption in amine-water systems. The work is also intended to provide models that can be used to predict the performance of new solvents. Such predictive models are intended to facilitate the screening for new solvents
Recent rapid growth in mobile computing technologies enables telemedicine applications to operate on mobile devices. Our focus is on the design of an integrated electrocardiogram (ECG) beat detector on a Personal Digital Assistant (PDA) platform for the health screening process. The ECG beat detector module will be supported by the PDA version of Personal Health Information Management System (PHIMS) and Facilitated Accurate Referral Management System (FARMS) through wireless network infrastructure as a home-based mobile cardiac monitoring solution. PMID:17282192
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 ...
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 ...
Keratinocyte growth factor receptor (KGFR) and fibroblast growth factor receptor (FGFR) 2c share identical amino acid sequences, except for a 46-amino acid domain in the extracellular region. Monoclonal antibodies (MAbs) specific to KGFR have not been reported nor are commercially available. In this study, we generated murine MAbs specific to KGFR in non-obese diabetic (NOD) mice using a modified Repeated Immunizations at Multiple Sites (RIMMS) technology. Stable cell lines expressing the full-length human KGFR or FGFR2c were produced to facilitate the identification of KGFR-specific MAbs. Following the initial screening of hybridoma clones with a fluorescence-based, confocal cell detection method and ELISA, KGFR-specific MAbs were selected and confirmed by flow cytometry and Western blot ...
Full text: The aim of this study was to determine the accuracy of CT colonography (Virtual colonoscopy; VC) for polyp detection in a community-based screening program of asymptomatic subjects at average-risk of colorectal cancer (CRC). Average-risk subjects of two quintiles (50-54 and 65-69 years) were randomly selected from the electoral roll and invited to participate in a VC-based CRC screening program. After bowel preparation, bowel insufflation with CO_2 and intravenous hyoscine butylbromide (unless contra-indicated), supine and prone scans were acquired with a single array GE CTi helical scanner. Scanning parameters were: collimation 3 or 5mm; pitch 1.5:1 or 2.0:1; reconstructions at 1-2mm; 70mAs (5mm collimation) or 120mAs (3mm collimation). Subjects in whom VC demonstrated a polyp were offered colonoscopy (CY) on the same day. Participation rate in the study has been 25%.To date 176 subjects have undergone VC. 41 of 176 (23%) VCs were ...
Several studies of facilitated communication have demonstrated that the facilitators were controlling and directing the typing, although they appeared to be unaware of doing so. Such results shift...Full Text Available
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 ...
Calcium-activated chloride channels (CaCCs) are widely expressed in mammalian tissues, including intestinal epithelia, where they facilitate fluid secretion. Potent, selective CaCC inhibitors have not been available. We established a high-throughput screen for identification of inhibitors of a human intestinal CaCC based on inhibition of ATP/carbachol-stimulated iodide influx in HT-29 cells after lentiviral infection with the yellow fluorescent halide-sensing protein YFP-H148Q/I152L. Screening of 50,000 diverse, drug-like compounds yielded six classes of putative CaCC inhibitors, two of which, 3-acyl-2-aminothiophenes and 5-aryl-2-aminothiazoles, inhibited by >95% iodide influx in HT-29 cells in response to multiple calcium-elevating agonists, including thapsigargin, without inhibition of calcium elevation, calcium-calmodulin kinase II activation, or cystic fibrosis transmembrane conductance regulator chloride channels. ...
Basal cell carcinoma (BCC) is the most frequent cutaneous neoplasm, with a generally favorable clinical behavior. Sometimes, indeed, it recurs after therapy and/or metastasizes. As point mutations in the coding sequence of the p53 tumor suppressor gene have been implicated in the progression of many human tumors, we studied the expression of p53 protein on this neoplasia. We tested immunohistochemically the positivity for p53 protein (NCL-p53-CM1, YLEM) on 19 cases of morphologically "non aggressive" BCC (BCC1) and on 19 "aggressive" BCC (BCC2), all with one or more relapses and 3 with distant metastases also. Results were related to clinico-pathological and follow-up data. All but one BCC2 were found positive for p53 protein. Conversely, only 2 cases of BCC1 exhibited low immunoreactivity for p53 protein, with high statistical differences between the two groups. No correlation was found between the immunoreactivity, age of patients, and site of the lesions. The ...
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).
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 ...
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
Currently, over 30,000 mapped STSs and 27,000 mapped Unigenes (non-redundant, unigene sets of cDNA representing EST clusters) are available for human alone. A total of 44,000 Unigene cDNA clones have been supplied by Research Genetics. Unigenes, or cDNAs are excellent resource for map building for two reasons. Firstly, they exist in two alternative forms -- as both sequence information for PCR primer pairs, and cDNA clones -- thus making library screening by colony hybridization as well as pooled library PCR possible. The authors have developed an efficient and robust procedure to screen genomic libraries with large number of DNA probes. Secondly, the linkage and order of expressed sequences, or genes are highly conserved among human, mouse and other mammalian species. Therefore, mapping with cDNA markers rather than random anonymous STSs will greatly facilitate comparative, evolutionary studies as well as physical map ...
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.).
Background. Through PSA screening the rate of prostate cancers detected at an early stage has increased significantly; thus a decrease in mortality can be expected in the near future. Despite all scientific efforts, however, the molecular mechanisms underlying the development and progression of prostate cancer remain poorly understood. Prostate cancer is a disease of aging men and epidemiological evidence supports a major contribution to its development through diet, lifestyle and environmental factors. Genetic instability is the basic phenomenon of tissue cell cancerisation. This instability can be hereditary or due to mutations and other chromosomal aberrations acquired during life. In recent years a large number of interesting data have been collected which show the relationships between focal atrophy and genetic instability of the prostate epithelia. Atrophy can be the result of prostatitis, ischemia as well as of oxidative stress (diet). ...
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
... detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule ... detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule ...
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-ras mutations 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). However, in the X-ray-induced lung tumors, ...
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
BACKGROUNDColorectal cancer (CRC) screening can be administered through tests with varied characteristics and is a preference-sensitive decision.OBJECTIVETo...Full Text Available
A design is proposed for forming the rear screen of a chamber firebox at the point of aerodynamic projection and a design for attaching the pipes of the aerodynamic projection using girders linked with the screen by hinges and movable connections.
Colerectal cancer (CRC) is the second commonest cancer in the Western World. Successful treatment relies significantly on accurate detection and staging of primary disease as well as the early identification of the presence and extent of recurrence. Morphological imaging techniques, particularly computed tomography (CT), are well established and widely available to carry out these tasks in addition to predicting and monitoring response to therapy. This review analyses the current inadequacies for imaging CRC and critically assesses the potential role of functional imaging with positron emission tomography (PET). It was reviewed the current literature, to use the experience from the firs 1000 PET studies carried out at the institution and the perspective of surgical colleagues. It was found little evidence for the use of 2-["1"8F]fluoro-2-deoxy-D-glucose (FDG)-PET for screening asymptomatic individuals and current modalities appear better suited for detection of ...
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...
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)
In neutron radiography, as in other forms of NDE, it is sometimes desirable to observe dynamic events. This need has generated increased interest in the development of real-time neutron radiography systems and neutron-to-light converter screens optimized for real-time application. Two screens currently available at MURR are: (1) a 0.041-cm-thick Gd_2O_2S screen manufactured by 3M Company and (2) a "6KiF-ZnS(Ag) screen (NE 426) manufactured by Nuclear Enterprises. These screens are presently used in conventional film neutron radiography and represent two of the commercially available screens that have demonstrated the greatest resolution and sensitivity. Unfortunately, these screens have severe limitations when used for real-time neutron radiography. In order to isolate and minimize the factors contributing to these limitations, several ...
There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from the second part ...
The production of oil by retorting shale and other hydrocarbonaceous and lignocellulosic solid materials is facilitated by retorting in the presence of steam and acetic acid.
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 ...
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.
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
Lead discovery in the pharmaceutical environment is largely an industrial-scale process in which it is typical to screen 1-5 million compounds in a matter of weeks using High Throughput Screening (HTS). This process is a very costly endeavor. Typically a HTS campaign of 1 million compounds will cost anywhere from $500000 to $1000000. There is consequently a great deal of pressure to maximize the return on investment by finding fast and more effective ways to screen. A panacea that has emerged over the past few years to help address this issue is in silico screening. In silico screening is now incorporated in all areas of lead discovery; from target identification and library design, to hit analysis and compound profiling. However, as lead discovery has evolved over the past few years, so h...
DNA transposons are efficient tools in transgenesis and have therefore become popular in the analysis of the regulatory genome in vertebrates via enhancer trap screens. Here, I discuss recent progress...Full Text Available
OBJECTIVE--To assess the accuracy of the ten questions screen as a measure of childhood disability for epidemiologic studies in populations lacking resources for professional assessment of children's...Full Text Available
BackgroundThere have been dramatic changes in the approach to screening for aneuploidy over the last 20 years. However, the approach to screening for other complications of pregnancy...Full Text Available
A preventive medicine program of rubella control for trainees at the Air Force Military Training Center, Lackland AFB, Texas, was begun in October 1977. Incoming trainees were screened for rubella susceptibility,...Full Text Available
Plants have too long been ignored as useful screening and monitoring systems of environmental mutagens. However, there are about a dozen reliable, some even unique, plant genetic systems that can increase...Full Text Available
We describe an Ebolavirus minigenome-based system that is suitable for high-throughput screening of compounds able to impair Ebolavirus virus replication and/or transcription....Full Text Available
Somatic radiation doses are recognized to be possible factors of carcinogenesis. In correctly performed mammography, however, even as screening test, the radiation dose does not reach such an order of magnitude that the benefit of the procedure as to prevention of breast cancer is called into question.
Ultraviolet (UV) screens are increasingly used as a result of growing concern about UV radiation and skin cancer; they are also added to cosmetics and other products for light stability. Recent data...Full Text Available
ObjectiveThis study was conducted to provide a nationwide analysis on barriers to cervical cancer screening in Korea.MethodsData used for this study...Full Text Available
A novel, quantitative method for detecting poly-3-hydroxybutyrate (PHB) amounts in viable cells was developed to allow for high-throughput screening of mutant libraries. The staining technique was demonstrated...Full Text Available
IntroductionColorectal cancer (CRC) is the second leading cause of cancer-related deaths, but currently available non-invasive screening programs have achieved only...Full Text Available
ObjectivesThis studys examined the relationship between substance use disorder (SUD) and intimate partner violence screening (IPV) and management practices in the...Full Text Available
ObjectiveTo examine the validity of the Patient Health Questionnaire - 2 (PHQ-2), a 2-item depression screening scale among adolescents.Full Text Available
Hemoglobin and zinc protoporphyrin (ZPP) tests are commonly used to screen for iron deficiency, but little research has been done to systematically evaluate the sensitivity and specificity of these...Full Text Available
BackgroundEffective prevention of excessive alcohol use has the potential to reduce the public burden of disease considerably. We investigated the cost-effectiveness of Screening...Full Text Available
BackgroundSelf-administered computer-assisted blood donor screening strategies may elicit more accurate responses and improve the screening process.MethodsRandomized...Full Text Available
Discrete masses are commonly detected during mammographic screening and most such lesions are benign. For lesions without pathognomonically benign imaging features that are still regarded likely to...Full Text Available
As part of efforts to develop improved methods for NMR protein sample preparation and structure determination, the Northeast Structural Genomics Consortium (NESG) has implemented an NMR screening pipeline for protein target selection, construct optimization, and buffer optimization, incorporating efficient microscale NMR screening of proteins using a micro-cryoprobe. The process is feasible because the newest generation probe requires only small amounts of protein, typically 30-200 ?g in 8-35 ?l volume. Extensive automation has been made possible by the combination of database tools, mechanization of key process steps, and the use of a micro-cryoprobe that gives excellent data while requiring little optimization and manual setup. In this perspective, we describe the overall process used by the NESG for screening NMR samples as part of a sample optimization process, assessing optimal construct design and solution conditions, ...
ObjectivesThis feasibility study developed and pilot tested an intervention to: (1) increase knowledge about prostate cancer (CaP) screening; and (2) promote self-efficacy...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
... Screening Adjudication Monitoring Applicants of Information Behavior II I Conducting Investigations ... Applicants of Information Behavior Conducting ...
In the Wajima lung cancer screening program conducted under the auspices of Kanazawa University Hospital, Fuji Computed Radiography (FCR) was utilized in a new chest radiography trial. The results of the screening program are that the necessity of repeat examinations due to poor image quality are less common and the method enables detection of small pulmonary nodular shadows which are possibly candidates for surgery. Oblique chest X-ray with FCR is remarkably effective for the detection and the identification of small lesions. However, the disadvantage of slow processing and high cost must be fully satisfied if FCR is to become a new imaging modality for mass screening.
In the Wajima lung cancer screening program conducted under the auspices of Kanazawa University Hospital, Fuji Computed Radiography (FCR) was utilized in a new chest radiography trial. The results of the screening program are that the necessity of repeat examinations due to poor image quality are less common and the method enables detection of small pulmonary nodular shadows which are possibly candidates for surgery. Oblique chest X-ray with FCR is remarkably effective for the detection and the identification of small lesions. However, the disadvantage of slow processing and high cost must be fully satisfied if FCR is to become a new imaging modality for mass screening. (author).
The capability of screen-film combinations of detection and representation of information is described by the detective quantum efficiency (DQE). The DQE may be calculated from the sensitivity, the gradient of the characteristic curve, the modulation transfer function and the Wiener spectrum. These parameters have been determined for fourteen screen-film combinations and the DQE's have been calculated. It is shown that the low frequency region the DQE does not depend on spatial frequency. This constant level of DQE is mostly dependent on the absorbance of the screens. Consequences from this fact, as well for the manufacturer as for the user of the screens, are discussed.
The capability of screen-film combinations of detection and representation of information is described by the detective quantum efficiency (DQE). The DQE may be calculated from the sensitivity, the gradient of the characteristic curve, the modulation transfer function and the Wiener spectrum. These parameters have been determined for fourteen screen-film combinations and the DQE's have been calculated. It is shown that the low frequency region the DQE does not depend on spatial frequency. This constant level of DQE is mostly dependent on the absorbance of the screens. Consequences from this fact, as well for the manufacturer as for the user of the screens, are discussed. (orig.).
Short-term radon measurements were used to make a comparison between weekly screening tests and seasonal concentration. The screening measurements were made in an indoor environment over a period of one quarter during early summer and the results are compared with the measured average radon level over that period. In these experiments, the envelope-type and plastic bag monitors were used for screening and long term radon concentration measurements, respectively. The results show that one cannot achieve predicting the seasonal mean radon concentration based on weekly measurements better than 50% under the conditions reported. (author).
Short-term radon measurements were used to make a comparison between weekly screening tests and seasonal concentration. The screening measurements were made in an indoor environment over a period of one quarter during early summer and the results are compared with the measured average radon level over that period. In these experiments, the envelope-type and plastic bag monitors were used for screening and long term radon concentration measurements, respectively. The results show that one cannot achieve predicting the seasonal mean radon concentration based on weekly measurements better than 50% under the conditions reported. (author).
The electrogeometric model cannot consider the influence of some parameters on the screening of the wire conductor of the H.V. lines. For analysing the influence of these parameters (the conductor potential, the influence of the distance from phase conductor to earth wire, the influence of the reducing factor of the striking earth distance, the earth slope, etc.), the Monte Carlo method is preferable. The influence of the earth slope on the screening effect of the wire conductor for different conditions is presented in this paper. (author)
This paper presents a group's efforts to introduce national newborn screening in Lebanon. Tandem mass spectrometry (MS) technology offers the prospect of utilizing filter paper blood specimens to screen newborns for several metabolic disorders. In order to be cost-effective, it is necessary to have a mandatory newborn screening policy. At present such a policy is not available in Lebanon. A national screening survey for congenital hypothyroidism (CH) was carried out to assess the incidence of this anomaly in the Lebanese population. Such an initiative is essential as a first step for assessing the feasibility and cost of a national screening programme. Coated beads, blood spot standards for quality control and buffer solutions used for assays were prepared in-house to minimize costs. At first, samples of umbilical cord blood spots were assayed for TSH using IRMA technique. Those ...
Deposition of CN-based films by a novel version of active screen plasma nitriding, aiming at surface modification of polymers, is reported. The approach relies on the use of pure graphite as the grid material, which was found to act both as an active screen and as a dry source of carbon atoms for the synthesis of thin films consisting mainly of a stoichiometric CN layer with columnar-type structure and dome-like nanostructured morphology.
BackgroundIncrease in the incidence of hyperuricemia associated with gout as well as hypertension, renal diseases and cardiovascular diseases has been a public health concern. We...Full Text Available
The chemiosmotic model of energy transduction offers a satisfying and widely confirmed understanding of the action of uncouplers on such processes as oxidative phosphorylation; the uncoupler, by facilitating...Full Text Available
The receptor-associated protein (RAP) is a molecular chaperone that binds tightly to certain newly synthesized LDL receptor family members in the endoplasmic reticulum (ER) and facilitates their delivery...Full Text Available
BackgroundCharacterizing and comparing the determinant of cotinine concentrations in different populations should facilitate a better understanding of smoking patterns and addiction....Full Text Available
Recent Reviews in Carcinogenesis is a service of the International Cancer Research Data Bank (ICRDB) Program of the National Cancer Institute, intended to facilitate and promote the exchange of information between cancer scientists. It contains abstracts ...
Background: The nail gun is a commonly utilized tool in carpentry and construction. When used properly with appropriate safety precautions, it can facilitate production and boost efficiency;...Full Text Available
... Society Physics Press Release 05-175Korea Joins International Computing Infrastructure ... connectivity with Korea in a ceremony last month. Facilitated by the Korea Institute for Science and ...
Summary 1.-Plant-plant interactions fluctuate between competition and facilitation depending upon ecological conditions and species traits. Facilitative interactions are expected to increase in frequency via associational defences with increasing consumer pressure. The ability of species to cope with competition and/or ecological stressors may alter the outcome of plant-plant interactions. 2.-We conducted a transplant experiment to determine if native and non-native grasses and forbs respond similarly to interactions with Juncus effusus L., an unpalatable benefactor species, along a grazing intensity gradient in two contrasting pasture types: intensively managed and semi-natural. We expected competitive taller, erect species (grasses) and non-natives to obtain stronger facilitative effects...
The biosynthesis of insect juvenile hormone (JH) and its neuroendocrine control are attractive targets for chemical control of insect pests and vectors of disease. To facilitate the molecular...Full Text Available
High-throughput synthesis and screening methods have been developed for the discovery of highly active catalysts for the control of emissions from stationary and mobile sources. Low temperature CO oxidation, CO methanation, NOx abatement and the destruction of Volatile Organic Compounds (VOCs) will be discussed. The discovery libraries for primary screening consisted of both 11x11 and 16x16 catalyst arrays on 3 inch and 4 inch quartz wafers, respectively. Catalysts were prepared by robotic liquid dispensing techniques and screened for catalytic activity in Symyx's Scanning Mass Spectrometer. The screening protocols encompassed mixed metal oxides, perovskites and supported base and noble metals. Active hits were further optimized in focus libraries using shallower compositional gradients. The ScanMS is a fast serial screening tool that uses flat wafer catalyst surfaces, ...
A unique method, previously proposed by the author, was applied to the heat transfer augmentation in the flow boiling field. In this method a screen sheet was put on the horizontal heated surface where bubble nucleation occurred. Generated vapor bubbles were trapped between the screen and the wall, became flat and moved along the surface. This restricted bubble behavior caused the heat transfer enhancement. Three types of the screen were tested in the present experiment and the effect of the screen was investigated on the heat transfer and two-phase flow characteristics. In two cases of them, the screen was displaced upward by the bubble nucleation. Compared with the ordinary flow boiling case, heat transfer was enhanced by a factor of 1.2 to 6 within the present experimental range. By using a simple flow model, it was made clear that the effect of the height of the displaced ...
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
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
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
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
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
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
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 ...
This paper describes a Qualitative/Screening Methodology included in the draft ANS Low Power and Shutdown (LPSD) PRA (Probabilistic Risk Assessment) Standard. The screening methodology can be used to eliminate certain specified shutdown POSs (Plant Operating States) from requiring further quantitative risk assessment in the context of a specified application based on demonstrating that their risk is lower than some predetermined limiting value. The paper also describes a methodology for qualitative risk assessment (QRA) tools that are used to support the screening process. The paper outlines the bases of both methodologies. (authors)
To improve the detection rate of lung cancer, we have introduced low-dose CT and CR technique into a population-based annual mass screening. From December 1999, 3868 and 12618 individuals participated in this screening program with CT and with CR, respectively. Primary lung cancer was detected in 15 (0.39%) by CT and 8 (0.06%) by CR. This results show high detection rate of primary lung cancer as had been previously reported. (author)
Transtelephonic electrocardiographic transmission (TET) is the most widespread form of telecardiology since it enables clinicians to assess patients at a distance. The purpose of this study was to assess...Full Text Available
screens of fine wire was placed between the gun barrel and the panel to determine whether the gun performance was repeatable. The transducers were placed ...
... as the difference between date of birth and date of ... Final model selections were based on the ... approval by the Naval Submarine Medical Research ...
Abstract Aim- According to the revised Bethesda Guidelines, colorectal cancer (CRC) occurring under age 50-years should be screened to exclude Lynch syndrome. However, in current practice in East Anglia, tumour screening is initiated only after genetics referral, reserved for those with a strong pedigree. This study aimed to determine how many patients with young-onset CRC undergo tumour screening in hospitals in East Anglia. Method- A retrospective case notes review over 5-years in four hospitals was undertaken to determine what proportion of those with young-onset CRC underwent referral for tumour screening and to assess local practices in terms of patient counselling and management. Results- One hundred and twenty-two patients were included. There was an average yearly caseload of 6-9 p...
Report) A Screening Assessment of the Potential Impacts of Climate Change on Combined Sewer Overflow (CSO) Mitigation in the Great Lakes and New England Regions (Final Report)...
The behavior of proton transfer facilitated by a novel thiazole derivative, N-methyl-4-(4-phenoxyphenyl)thiazol-2-amine (MPPT), across the water/1,2-dichloroethane (1,2-DCE) interface was investigated electrochemically. The ionic partition diagram for MPPT was obtained from interpretation of the cyclic voltammograms. The apparent partition coefficient of MPPT was evaluated by the shaking-flask method under experimental conditions, while that for the protonated form of MPPT was calculated from its transfer potential obtained from the ionic partition diagram. It was suggested that the mechanism for transfer of MPPT across the water/1,2-DCE) interface depends on the pH of the aqueous phase. The parameters of the facilitated proton transfer across the water/1,2-DCE interface were evaluated as ...
From the numbers of radiographs of the different examinations and the total amount of radiological diagnostics in the GDR their possible modification by new imaging techniques is discussed under the aspects of costs and radiation burden. Film-screen-systems are of special importance, because they also will be most frequently used image recording system in future. The importance of their various properties and parameters, methods of determining these parameters as well as future developments are analyzed from the standpoint of practical requirements.
From the numbers of radiographs of the different examinations and the total amount of radiological diagnostics in the GDR their possible modification by new imaging techniques is discussed under the aspects of costs and radiation burden. Film-screen-systems are of special importance, because they also will be most frequently used image recording system in future. The importance of their various properties and parameters, methods of determining these parameters as well as future developments are analyzed from the standpoint of practical requirements. (author).
Results of the evaluation of the scattered radiation effect on the image of defects in examined products are given. The formula is suggested which characterizes the image of defects on a scintillation screen as well as accumulation factors are calculated by the Monte-Carlo method. Values of fluctuations of absorbed energy in the screen used for the evaluation of sensitivity are experimentally obtained. The effect of high-energy bremsstrahlung on the defect detection is analyzed.
BackgroundTwo randomized controlled trials of lung cancer screening initiated in the 1970's, the Johns Hopkins Lung Project and the Memorial Sloan-Kettering Lung...Full Text Available
This paper describes a maintenance problem in a fusion power plant. The problem is to specify which life limited parts should be replaced when there is an opportunity. The objective is to minimize the cost rate of replacement parts and of maintenance actions while satisfying a power plant availability constraint. The maintenance policy is to look ahead and replace all parts that will reach their life limits within a time called a screen. Longer screens yield greater system availabilities because more parts are replaced prior to their life limits.
This symposium was held February 22--24, 1995 in Las Vegas, Nevada. The purpose of this meeting was to provide a multidisciplinary forum for exchange of state-of-the-art screening methods for environmental monitoring and remedial action planning of hazardous materials. In the last few years important advances have been made in the management of hazardous materials. Individual papers have been processed separately for inclusion in the appropriate data bases.
There is significant interest in using computed tomography (CT) for in vivo imaging applications in mouse models of disease. Most commercially available mouse x-ray CT scanners utilize a charge-coupled device (CCD) detector coupled via fibre optic taper to a phosphor screen. However, there has been little research to determine if this is the optimum detector for the specific task of in vivo mouse imaging. To investigate this issue, we have evaluated four detectors, including an amorphous selenium (a-Se) detector, an amorphous silicon (a-Si) detector with a gadolinium oxysulphide (GOS) screen, a CCD with a 3:1 fibre taper and a GOS screen, and a CCD with a 2:1 fibre taper and both GOS and thallium-doped caesium iodide (CsI:Tl) screens. The detectors were evaluated by measuring the modulation transfer function (MTF), noise power spectrum (NPS), detective quantum efficiency (DQE), stability over multiple ...
The research team recruited eight Chinese American (seven females, one male) lay health workers (LHWs). They received 12 h of training about colorectal cancer (CRC), its screening, and basic...Full Text Available
An important early step in the assessment of ecological risks at contaminated sites is the screening of chemicals detected on the site to identify those that constitute a potential risk. Part of this screening process is the comparison of measured ambient concentrations to concentrations that are believed to be nonhazardous, termed benchmarks. This article discusses 13 methods by which benchmarks may be derived for aquatic biota and presents benchmarks for 105 chemicals. It then compares them with respect to their sensitivity, availability, magnitude relative to background concentrations, and conceptual bases. This compilation is limited to chemicals that have been detected on the US Department of Energy's Oak Ridge Reservation (ORR) and to benchmarks derived from studies of toxic effects on freshwater organisms. The list of chemicals includes 45 metals and 56 industrial organic chemicals but only four pesticides. Although some individual ...
To assess the diagnostic capability Fuji computed radiography (FCR) using a dual side reading system was compared to the conventional radiography using a film-screen system. Twenty-eight patients with lung cancer were examined with a new FCR system (FCR 5501D) and a conventional screen-film system concurrently. FCR utilizes a reading system that detects emissions from dual sides of imaging plate. Chest X-rays were obtained with same exposure factors in both systems. Image qualities of both systems were compared by two radiologists using a five-level score. There were no lesion that FCR images were inferior to film-screen images. The frequency of score +1 or +2 that FCR images were superior to film-screen images was 31% in large nodular shadows, 40% in accompanying shadows with a nodule, 67% of small nodular shadows, and 43% of the lymph node swelling in the hilum of the lung or mediastinum. In large ...
To illustrate the implementation of a bottom-up approach to the study of culture in health disparities, this article describes the development of a cultural cancer screening scale (CCSS) using mixed methodologies. The aim was to identify cultural factors relevant to breast and cervical cancer screening, develop an instrument to assess them and examine its preliminary psychometric properties among Latin American (Latino) and non-Latino White (Anglo) women in Southern California. Seventy-eight Latino and Anglo women participated in semi-structured interviews, which were content coded based on Triandis' methods for the analysis of subjective culture. Based on the emerging cultural elements, items relevant to cancer screening were developed and pilot tested with 161 participants. After the instrument was refined, 314 Latino and Anglo women from various socioeconomic backgrounds completed the CCSS and data were factor analyzed ...
chipD is a web server that facilitates design of DNA oligonucleotide probes for high-density tiling arrays, which can be used in a number of genomic applications such as ChIP-chip or gene-expression...Full Text Available
BackgroundThe use of measurement tools is an essential part of good evidence-based practice; however, physiotherapists (PTs) are not always confident when selecting, administering,...Full Text Available
Replication of plus-strand RNA viruses depends on host factors that are recruited into viral replicase complexes. Previous studies showed that eukaryotic translation elongation factor (eEF1A) is one...Full Text Available
BackgroundProcessing of multimodal information is a critical capacity of the human brain, with classic studies showing bimodal stimulation either facilitating or interfering in perceptual...Full Text Available
Peripheral subunit binding domains (PSBDs) are integral parts of large multienzyme complexes involved in carbohydrate metabolism. PSBDs facilitate shuttling of prosthetic groups between different catalytic...Full Text Available
Surfactant protein A (SP-A), first identified as a component of the lung surfactant system, is now recognized to be an important contributor to host defence mechanisms. SP-A can facilitate phagocytosis...Full Text Available
The demand for cogeneration plants is growing worldwide. For the combination of electricity generation and heat extraction in power stations facilitates an excellent fuel exploitation and makes the operator of the plant independent from external energy suppliers. (orig.)
BackgroundThe study of bacterial species interactions in a mixed-species community can be facilitated by transcriptome analysis of one species in the community using cDNA microarray...Full Text Available
A general method is described to sequester peptides containing azides from complex peptide mixtures, aimed at facilitating mass spectrometric analysis to study different aspects of proteome...Full Text Available
Spectacular increases in the quantity of sequence data genome have facilitated major advances in eukaryotic comparative genomics. By exploiting homology with classical model organisms, this makes possible...Full Text Available
The widespread use of tobacco and alcohol among adolescents might be related to the ability of nicotine and ethanol to facilitate social interactions. To investigate the neurobehavioral mechanisms...Full Text Available
A new gadolinium chelating NIR fluorescent molecular probe increases T1 relaxivity of water protons, facilitating combined optical and magnetic resonance imaging.
The exposure of cells to several metal ions stabilizes HIF-1α protein. However, the molecular mechanisms are not completely understood. They may involve inhibition of hydroxylation by either...Full Text Available
The paper demonstrates several ways that medical language processing can be combined with emerging display technologies to facilitate the extraction of data from free-text patient documents. The techniques...Full Text Available
Lepidoptera, butterflies and moths, is the second largest animal order and includes numerous agricultural pests. To facilitate comparative genomics in Lepidoptera, we isolated BAC clones containing...Full Text Available
This paper describes Image Engine, an object-oriented, microcomputer-based, multimedia database designed to facilitate the storage and retrieval of digitized biomedical still images, video, and text...Full Text Available
For meadow voles, Microtus pennsylvanicus, seasonal differences exist in self-grooming and in odor preferences for conspecifics, two behaviors which facilitate sexual interactions...Full Text Available
RATIONALE AND OBJECTIVESNon-invasive longitudinal imaging of tumor vasculature could provide new insights into the development of solid tumors, facilitating efficient...Full Text Available
We analyze transport through conical channels due to the difference in particle concentration on the two sides of the membrane. Because of the detailed balance, fluxes of non-interacting particles...Full Text Available
The continuous addition of toluene as a solute of treated ballast water from oil tankers into a well-defined estuary facilitated the study of the dynamics of dissolved hydrocarbon metabolism in seawater....Full Text Available
Polypeptides exiting the ribosome must fold and assemble in the crowded environment of the cell. Chaperones and other protein homeostasis factors interact with newly translated polypeptides to facilitate...Full Text Available
Objective: The paper describes and evaluates the use of Clinical Digital Libraries Project (CDLP) digital library collections in terms of their facilitation of timely clinical information...Full Text Available
Psychopathic individuals are generally unresponsive to motivational and emotional cues that facilitate behavioral regulation. A putative mechanism for this deficiency is Gray’s (1971)...Full Text Available
Medulloblastoma and neuroblastoma belong to a group of neoplasms designated as primitive neuroectodermal tumors (PNETs). Secreted Protein, Acidic and Rich in Cysteine (SPARC) is a matrix-associated...Full Text Available
Gene expression from bacterial artificial chromosome (BAC) clones has been demonstrated to facilitate physiologically relevant levels compared to viral and nonviral cDNA vectors. BACs are large enough...Full Text Available
...6 Resource type: documents MmIT: Multimedia Information and Technology Group Group aiming to facilitate communication between CILIP members interested in multimedia developments in the library and information science field. Visits to places of interest like museums and archives are frequently organised, and an email discussion list ...
BackgroundWidespread availability of geographic information systems software has facilitated the use of disease mapping in academia, government and private sector. Maps that display...Full Text Available
BackgroundGenomics has substantially changed our approach to cancer research. Gene expression profiling, for example, has been utilized to delineate subtypes of cancer, and facilitated...Full Text Available
The aggregation substance (AS) of Enterococcus faecalis, encoded on sex pheromone plasmids, is a surface-bound glycoprotein that mediates aggregation between bacteria thereby facilitating...Full Text Available
Abs facilitate humoral immunity via the classical mechanisms of opsonization, complement activation, Ab-dependent cellular cytotoxicity, and toxin/viral neutralization. There is also evidence that some...Full Text Available
T-type calcium channels are responsible for generating low-threshold spikes that facilitate burst firing and neurotransmitter release in neurons. GnRH neurons exhibit burst firing, but the underlying...Full Text Available
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 ...
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 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;...
Abstract A fabrication process for Emitter-Wrap-Through solar cells on monocrystalline material with high quality gap passivation by wet thermal silicon dioxide is investigated. Masking and structuring steps are performed by screen-printing technology. Via-holes are created by an industrially applicable high-speed laser drilling process. The cell structure features a selective emitter structure fabricated in a single high temperature step: a highly doped emitter at the via-holes and the rear side, allowing for a low via-hole resistivity as well as a low resistivity contact to screen-printed pastes, and a moderately doped front side emitter exhibiting high quantum efficiency in the low wavelength range. Therefore a novel approach is applied depositing either doped or undoped PECVD silicon d...
BACKGROUND.The National Breast and Cervical Cancer Early Detection Program (NBCCEDP) covers the direct clinical costs of breast and cervical cancer screening and diagnostic follow-up for medically underserved, low-income women. Personal costs are not covered. In this report, the authors estimated personal costs per woman participating in NBCCEDP mammography screening by race/ethnicity and also estimated lifetime personal costs (ages 50-74 years).METHODS.A decision analysis model was constructed and parameterized by using empiric data from a retrospective cohort survey of mammography rescreening among women ages 50 years to 64 years who participated in the NBCCEDP. Data from 1870 women were collected from 1999 to 2000. The model simulated the flow of resources incurred by a woman participat...
The incidence of columnar cell lesions in breast core needle biopsies since full-field digital mammography in comparison with screen-filmed mammography was analyzed. As tiny microcalcifications characterize columnar cell lesions at mammography, we hypothesized that more columnar cell lesions are diagnosed since full-field digital mammography due to its higher sensitivity for microcalcifications. In all, 3437 breast core needle biopsies performed in three hospitals and resulting from in total 55?159 mammographies were revised: 1424 taken in the screen-filmed mammography and 2013 in the full-field digital mammography period. Between the screen-filmed mammography and full-field digital mammography periods, we compared the proportion of mammographies that led to core needle biopsies, the...
The reference method used to analyse polychlorodibenzo-p-dioxins (PCDDs), polychlorodibenzofurans (PCDFs) and dioxin-like polychlorinated biphenyls (dl-PCBs) is chromatography with high resolution mass spectrometry (GC-HRMS). It is interesting to check the suitability of screening methods that are faster and less expensive. Different matrices (milk, fish oil, chicken compound feed, pork tissue, chicken tissue, sepiolitic clay, whole egg and herring tissue) were analysed in the frame of the European project DIFFERENCE1. One of the aims of this project is to optimise screening methods. The CALUX bio-assay was one of the screening techniques used. This paper presents the extraction and purification methods used for the analyses. The CALUX results for dioxins and for dl-PCBs were compared to the corresponding GC-HRMS results.
The vigilance reinforcement hypothesis (VRH) asserts that errors in signal detection tasks are partially explained by operant reinforcement and extinction processes. VRH predictions were tested with a computerized baggage screening task. Our experiment evaluated the effects of signal schedule (extinction vs. variable interval 6 min) and visual field complexity (dial vs. baggage x-ray) on search behavior rates. There was a main effect for signal schedule [F (1, 20) = 14.0, p = 0.001, p[subscript rep] = 0.99], but no effects for field complexity or interaction. The VRH suggests that performance errors in visual screening work may be reduced through operant conditioning of search behaviors by intensive management of artificially planted signals. (Contains 1 table and 3 figures.)
Abstract Surface modification of topography and chemistry in order to achieve a specific water contact angle (CA) has been explored by using a novel combinatorial screening platform. The screening arrays consisted of 507 distinct combinations of micro-topographies and chemical compositions. By performing chemical modifications with 1H, 1H, 2H, 2H perfluoroethyltriethoxy-silane (PFS) and n-octadecyltriethoxysilane (ODS) on standard silicon wafers it was possible to include both superhydrophobic and very hydrophilic pad arrays in the same screening platform. Surfaces modified with PFS were more hydrophobic than surfaces modified with ODS, while the unmodified silicon surfaces were hydrophilic. For the PFS modified surfaces the largest CAs were achieved with a small pillar size of X-=-1-m and...
Phase contrast X-ray imaging has been studied intensively using X-rays from synchrotron radiation and micro-focus X-ray tubes. However, these studies have revealed the difficulty of this technique's application to practical medical imaging. We have created a phase contrast imaging technique using a molybdenum X-ray tube with a small focal spot size for mammography. We identified the radiographic conditions in phase contrast magnification mammography with a screen-film system, where edge effect due to phase contrast overcomes geometrical unsharpness caused by the 0.1 mm-focal spot of a molybdenum X-ray tube. The edge enhancement due to phase imaging was observed in an image of a plastic tube, and then geometrical configuration of the X-ray tube, the object and the screen-film system was determined for phase imaging of mammography. In order to investigate a potential for medical application of this method, we conducted evaluation of the images of ...
The protozoan parasite Trypanosoma cruzi is the etiologic agent of Chagas disease, a neglected tropical infection that affects millions of people in the Americas. Current chemotherapy...Full Text Available
The diagnosis of viral causes of many infectious diseases is difficult due to the inherent sequence diversity of viruses as well as the ongoing emergence of novel viral pathogens, such as SARS coronavirus...Full Text Available
A screening questionnaire designed to take an alcohol history was used on 996 patients attending the London Hospital Accident and Emergency Department. Questions concerned with 'binge' drinking detected...Full Text Available
ObjectiveTo estimate which strategy is the most cost-effective for prevention of preterm birth and associated morbidity.Study DesignFull Text Available
Significant emphasis has recently been placed on the characterization of the human cancer genome. This effort has been assisted by the development of new DNA sequencing technologies that allow...Full Text Available
This work presents a comparative study of low-alloy steel nitriding for different possible techniques. Active screen plasma nitriding (ASPN) is a successful surface modification method that has many advantages over the conventional DC plasma nitriding (CPN). The corrosion behavior of 30CrNiMo8 low-alloy steel has been examined using anodic polarization tests in 3.5% NaCl solution under varying conditions of ASPN and CPN processes. The process variables included active screen setup parameters, treatment temperature (550 and 580 deg. C), gas mixture (25/75 and 75/25 of N{sub 2}/H{sub 2}) and treatment time (5 and 10 h) in 500 Pa pressure. The structure and phases composition of the compound layer was studied by X-ray diffraction (XRD), microhardness tests, optical microscopy and scanning electron microscopy (SEM). It was observed that ASPN treated samples surface enhanced corrosion resistance while the temperature and/or hole size of ...
This work presents a comparative study of low-alloy steel nitriding for different possible techniques. Active screen plasma nitriding (ASPN) is a successful surface modification method that has many advantages over the conventional DC plasma nitriding (CPN). The corrosion behavior of 30CrNiMo8 low-alloy steel has been examined using anodic polarization tests in 3.5% NaCl solution under varying conditions of ASPN and CPN processes. The process variables included active screen setup parameters, treatment temperature (550 and 580 deg. C), gas mixture (25/75 and 75/25 of N_2/H_2) and treatment time (5 and 10 h) in 500 Pa pressure. The structure and phases composition of the compound layer was studied by X-ray diffraction (XRD), microhardness tests, optical microscopy and scanning electron microscopy (SEM). It was observed that ASPN treated samples surface enhanced corrosion resistance while the temperature and/or hole size of ...
AbstractBackgroundGender concordance between patients and their physicians is related to prevention screening and other quality indicators. Research suggests female...Full Text Available
The Arabidopsis ref2 mutant was identified in a screen for plants having altered fluorescence under UV light. Characterization of the ref2 mutants showed that they...Full Text Available
Two men reported previously with vitiligo after occupational exposure to hydroquinone monomethyl ether (HMME) have been reviewed after eight years. Repigmentation of significant degree was found in...Full Text Available
A comparison of the loss mechanisms in screen-printed solar cells relative to buried contact cells and cells with photolithography-defined contacts is presented in this paper. Model calculations show that emitter recombination accounts for about 0.5% absolute efficiency loss in conventional screen-printed cells with low-sheet-resistance emitters. Ohmic contact to high-sheet-resistance emitters by screen-printing has been investigated to regain this efficiency loss. Our work shows that good quality ohmic contacts to high sheet-resistance emitters can be achieved if the glass frit chemistry and Ag particle size are carefully tailored. The melting characteristics of the glass frit determine the firing scheme suitable for low contact resistance and high fill factors. In addition, small to regular Ag particles were found to help achieve a higher open-circuit voltage and maintain a low contact resistance. This work has resulted ...
The results of the two most recently completed runs at the Wilsonville Advanced Coal Liquefaction Research and Development Facility are presented. In Run 255, initial screening of operating conditions for the liquefaction of a Texas lignite was completed....
The introduction of prenatal screening requires rapid high-throughput diagnosis of common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) allows for quick, easily automated multiplex...Full Text Available
A method is described for the supervision of technicians engaged in microscopical screening of large numbers of stools for Schistosoma mansoni ova. The scheme presents graphically...Full Text Available
Forty species of anaerobes were screened for the ability to produce an ether-extractable mutagen which is present in the feces of 15 to 20% of individuals in populations at high risk for colon cancer....Full Text Available
BackgroundIt is important to generate biofuels and society must be weaned from its dependency on fossil fuels. In order to produce biofuels, lignocellulose is pretreated and the...Full Text Available
During a study of the health status of children in rural Nigerian communities a gross lack of fit was observed between the sample and the growth attainment standards derived from local longitudinal...Full Text Available
Several commonly occurring freshwater and marine plants and algae were screened for beta-D-galactosidase and beta-D-glucuronidase activities by using a 60-min enzyme assay based on the hydrolysis by...Full Text Available
Aromatic Hydrocarbons (PAHs) PAHs, such as benzo(a)pyrene, are commonly found in fuel oils and crude oil, and were detected above LDEQ screening levels for residential soil in...
BackgroundThe zebrafish is recognized as a versatile cancer and drug screening model. However, it is not known whether the estrogen-responsive genes and signaling pathways that are...Full Text Available
BackgroundIdentification of global livestock diversity hotspots and their importance in diversity maintenance is essential for making global conservation efforts. We screened 52...Full Text Available
BackgroundThe complications of hypertension cause severe health problems in rural areas in China. We (i) screened the major factors inducing hypertensive complications and provided...Full Text Available
Physicists grouped around a screen in the LEP control room at the strat-up of LEP on 14 July 1989. The emotion of the moment is clear. Carlo Rubbia, Director-General of CERN at the time, is in the centre and on his left, Herwig Schopper, former Director-General of the Organization.
The phenomenon of antibiotic resistance has created a need for the development of novel antibiotic classes with non-classical cellular targets. Unfortunately, target-based drug discovery against...Full Text Available
Mouse models have dramatically improved our understanding of cancer development and tumor biology. However, these models have shown limited efficacy as tractable systems for unbiased genetic...Full Text Available
Proceeding from laboratory and pilot plant tests of the screening of fine classes of coal under the effect of gravitational forces on stationary grates, and also from the experience of the Krivoi Rog and Kommunarsk Coke Works (1,2), the coal preparation division of OKhMK (Orsk-Khalilovo Integrated Iron and Steel Works) adopted an industrial scheme of comminution of coal before coking, screening out the fine classes ahead of the hammer crushers. In the bottom of the feeder chute a stamped screen was installed (dimensions 2100 X 1600 X 5 mm with apertures of 40 X 100 mm) with the large side perpendicular to the flow of coal. The distance between the apertures on the small side of the screen was 20 mm, on the large side 15 mm; the inclination was 60/sup 0/. The overscreen product enters the crusher, and the underscreen product is injected into the crushed charge without comminution. The improvement in the ...
Using a genetic screen we have identified two chromosomal genes, cusRS (ylcA ybcZ), from Escherichia coli K-12 that encode a two-component, signal...Full Text Available
Bortezomib/PS-341/Velcade, a proteasome inhibitor, is widely used to treat multiple myeloma. While several mechanisms of the cytotoxicity of the drug were proposed, the actual mechanism remains elusive....Full Text Available
Viruses, and more particularly retroviruses, have been postulated to play a role in the pathogenesis of autoimmune diseases. In a search for spumaretrovirus infection markers, we screened a group of...Full Text Available
The identification of host cell factors for virus replication holds great promise for the development of new anti-viral therapies. Recently, high-throughput screening methods have emerged as...Full Text Available
Chemical genetics is an emerging approach to investigate the biology of host-pathogen interactions. We screened several inhibitors of ATP-dependent DNA motors and detected the gyrase B inhibitor coumermycin...Full Text Available
OBJECTIVETo estimate the relationship between the rate of gestational weight gain before the 50-g, 1-hour oral glucose challenge test screening for gestational diabetes...Full Text Available
The accelerating development of biochemical and DNA-based diagnostic tests for human genetic conditions in the last decade has engendered a revolution in genetic diagnosis. Both genetic testing and...Full Text Available
The availability of full genome sequences has allowed the construction of microarrays, with which screening of the full genome for changes in gene expression is possible. This method can provide a wealth...Full Text Available
Serum specimens obtained from a nationwide sample of parenteral drug abusers (PDAs) during the period 1971-72 had previously been screened for human immunodeficiency virus (HIV) antibodies. Some specimens...Full Text Available
A number of noise equivalent quanta (NEQ(u)) has been used in the evaluation of imaging systems. In this paper, we have evaluated the image quality of Fuji computed radiography (FCR) using of NEQ (u) and considered with the effects of the aliasing error of the FCR. The noise samples of the FCR were made by three different exposure levels, and one of these has the same exposure level of the screen-film system. These samples were set with the same characteristic curve condition as that of the screen-film system. Results indicate that NEQ (u) of the FCR system at low frequencies varies depending on the exposure level. On the same exposure level, NEQ(u) of screen-film system has a higher value than that of FCR in the frequency region over 2.5 cycles/mm. Moreover, the aliasing error of FCR increases at the frequency region over 5 cycles/mm. We concluded that it is necessary to compare with the screen-film ...
A number of noise equivalent quanta (NEQ(u)) has been used in the evaluation of imaging systems. In this paper, we have evaluated the image quality of Fuji computed radiography (FCR) using of NEQ (u) and considered with the effects of the aliasing error of the FCR. The noise samples of the FCR were made by three different exposure levels, and one of these has the same exposure level of the screen-film system. These samples were set with the same characteristic curve condition as that of the screen-film system. Results indicate that NEQ (u) of the FCR system at low frequencies varies depending on the exposure level. On the same exposure level, NEQ(u) of screen-film system has a higher value than that of FCR in the frequency region over 2.5 cycles/mm. Moreover, the aliasing error of FCR increases at the frequency region over 5 cycles/mm. We concluded that it is necessary to compare with the screen-film ...
The development of structural barriers for nuclear waste packages involves selection of candidate materials, their screening by mechanical and corrosion testing, rigorous accelerated testing, and evaluation and comparison with other package elements. This document presents results from work conducted on titanium and ferrous alloys.
BackgroundPosttransfusion hepatitis B virus (HBV) infection still occurs although its incidence has been substantially reduced since the introduction of screening of hepatitis B...Full Text Available
This paper shows the efficacy of computed radiography for major airway in pediatrics. For this purpose, we examined 40 children (range 2 weeks to 14 years; mean 2.3 years) using Fuji Computed Radiography (FCR) and radiation dose using pediatric phantom under FCR and conventional film and screen system. In comparison study with FCR and conventional film and screen system, FCR images are superior to conventional system in all cases. Scorings were done for the quality of the image of the pharynx, the trachea, and both main bronchi. In phantom study to check radiation dose, radiation dose could be reduced 1/6 of the value using high speed film and screen and 1/15 of the value using conventional speed film and screen. FCR also showed clear airway images in all cases but technical failure to evaluate the clinical lesion. These results suggest that FCR is the adequate imaging modality to evaluate the major ...
There are many methods to screen for abnormal amounts of proteinuria to identify patients at risk for progression of renal disease, but which method best predicts renal risk is unknown. Here, we analyzed...Full Text Available
Urethral and endocervical swabs and self-collected vaginal swabs (SCVSs) and urine specimens are all used as samples for diagnosis of urogenital infection with Chlamydia trachomatis....Full Text Available
Terfestatin A (TrfA), terphenyl-β-glucoside, was isolated from Streptomyces sp. F40 in a forward screen for compounds that inhibit the expression of auxin-inducible...Full Text Available
The report gives results of an examination, including mutagenic screening, of the chemical composition of residual fuel oils and their column chromatography pre-fractions. A degree of correlation between composition and mutagenicity has been achieved. Radionuclide data has been o...
BackgroundComputer-based health-risk assessments are electronic surveys which can be completed by patients privately, for example during their waiting time...Full Text Available
Two field-adapted colorimetric methods for measuring the antimalarial drug chloroquine in urine are described. Both are modifications of the method of Saker and Solomons for screening urine for phencyclidine...Full Text Available
From Toki-shakuyaku-san, an herbal formulation for “cleansing stagnated blood,” a key gene regulatory compound was purified and identified through a screening based on DNA microarray...Full Text Available
Here we describe a Sleeping Beauty (SB) transposition system that utilizes a conditional SB transposase allele, which can be activated by Cre...Full Text Available
P granules are non-membrane-bound organelles found in the germ-line cytoplasm throughout Caenorhabditis elegans development. Like their “germ granule” counterparts in...Full Text Available
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.).
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
Two methods for computation of real, virtual and quasistationary energy eigenvalues are considered: summation of divergent perturbation series, solution of integral equations for t matrix on physical and nonphysical sheets of energy. The results of energy computation for s-, p- and d-states in potentials of a screened Coulomb type are presented. It is shown on an example of the Yukawa potential that the energy eigenvalues given by both these methods coincide with high precision. As an illustration the positions of real (deuteron) and virtual (singlet deuteron) poles of the np-scattering amplitude are calculated. For Yukawa type potentials the new theorem of symmetry for bound and virtual levels is discussed.
Scattered radiation generated in patient and imaging system has to be considered when quality-assurance tests involve dose detection or image-quality estimations. Measurement of automatic-exposure control dose can be altered by backscattering from intensifying screens of more than 10% and the equipment transmission factor can be overestimated up to a factor of 10 when only primary radiation is used. The sensitivity of intensifying screens depends on the angle of incidence of the radiation and so primary and scattered radiation are detected differently. The quality-control aspects of anti-scatter grids are discussed. (author).
Scattered radiation generated in patient and imaging system has to be considered when quality-assurance tests involve dose detection or image-quality estimations. Measurement of automatic-exposure control dose can be altered by backscattering from intensifying screens of more than 10% and the equipment transmission factor can be overestimated up to a factor of 10 when only primary radiation is used. The sensitivity of intensifying screens depends on the angle of incidence of the radiation and so primary and scattered radiation are detected differently. The quality-control aspects of anti-scatter grids are discussed. (author).
A method for analyzing the experimental results of coal liquefaction reactions which is applicable to a number of aspects of coal liquefaction research and process control, including rapid selectivity and performance screening for catalysts; correlation of laboratory results with process parameters; and optimization of product yield with plant process conditions is described here. Ternary diagrams of product/by-product distributions for the coal liquefaction using Co/Mo catalysts combined with a hyperbolic relationship for the conversion of various hydrocarbon fractions can be used for catalyst screening. A hydrogen consumption diagram used to provide a more significant selectivity test than the hyperbolic correlation is also included. (BLM)
Doses to the salivary glands, thyroid gland, breast, lung, stomach and colon during mass radiological gastric screening, mass radiographic chest screening, upper gastrointestinal series and computed tomography were determined by exposing a female human phantom to simulated radiological X-ray examinations as performed in community hospitals. The doses were measured using thermoluminescent dosemeters, and the results will be used to document organ doses received by participants in the Atomic Bomb Casualty Commission/Radiation Effects Research Foundation Adult Health Study. (Author).
Doses to the salivary glands, thyroid gland, breast, lung, stomach and colon during mass radiological gastric screening, mass radiographic chest screening, upper gastrointestinal series and computed tomography were determined by exposing a female human phantom to simulated radiological X-ray examinations as performed in community hospitals. The doses were measured using thermoluminescent dosemeters, and the results will be used to document organ doses received by participants in the Atomic Bomb Casualty Commission/Radiation Effects Research Foundation Adult Health Study. (Author).
A research program has been initiated to screen and select electrolyte materials for use in steam electrolyzers in the 300-600/sup 0/C temperature range. Screening of a significant number of acid anhydrides, hydroxides, oxides, and phospates for their electrolytic conductivity properties is underway. Of the binary materials examined to date, only polymerized phosphoric acid, immobilized on an H/sup +/ substituted zeolite, shows promise. A substantial number of ternary compounds remain to be synthesized and evaluated.
A colony PCR technique was applied for both genomic and chloroplast DNA in the green microalgae Chlorella. Of five different lysis buffers, Chelex-100 was superior for DNA extraction, PCR and DNA storage. It also was insensitive to variations in cell density. The conditions established for an improved PCR formulation are applicable for screening of genetically-engineered transformants as well as bioprospecting of natural microalgal isolates. Besides multiple Chlorella species, we also demonstrate the efficacy of Chelex-100 for colony PCR with a number of other microalgal strains, including Chlamydomonas reinhardtii, Dunaliella salina, Nannochloropsis sp., Coccomyxa sp., and Thalassiosira pseudonana. PMID:21431847
In this paper, we report on a comparative study of active screen plasma nitriding (ASPN) and conventional dc plasma nitriding (CPN) behavior of 30CrNiMo8 low-alloy steel that has been examined under various process conditions. The process variables included active screen setup parameters (screen and iron plate top lids placed on the screen setup with 8 mm of hole size), treatment temperature (550 and 580 deg. C), gas mixture (75/25 and 25/75 of N{sub 2}/H{sub 2}) and treatment time (5 and 10 h) in 500 Pa pressure. The structure and phases composition of the diffusion zone and compound layer were studied by X-ray diffraction (XRD), microhardness tests, light optical microscopy and scanning electron microscopy (SEM). It was observed that treated sample surfaces in both CPN and ASPN methods consist of {gamma}' and {epsilon} phases, and while the nitriding time and/or temperature increases, the ...
In this paper, we report on a comparative study of active screen plasma nitriding (ASPN) and conventional dc plasma nitriding (CPN) behavior of 30CrNiMo8 low-alloy steel that has been examined under various process conditions. The process variables included active screen setup parameters (screen and iron plate top lids placed on the screen setup with 8 mm of hole size), treatment temperature (550 and 580 deg. C), gas mixture (75/25 and 25/75 of N_2/H_2) and treatment time (5 and 10 h) in 500 Pa pressure. The structure and phases composition of the diffusion zone and compound layer were studied by X-ray diffraction (XRD), microhardness tests, light optical microscopy and scanning electron microscopy (SEM). It was observed that treated sample surfaces in both CPN and ASPN methods consist of #gamma#' and #epsilon# phases, and while the nitriding time and/or temperature increases, the intensity of #epsilon# ...
The Screening Risk Evaluation (SRE) guidance document is a set of guidelines provided for the uniform implementation of SREs performed on decontamination and decommissioning (D&D) facilities. Although this method has been developed for D&D facilities, it can be used for transition (EM-60) facilities as well. The SRE guidance produces screening risk scores reflecting levels of risk through the use of risk ranking indices. Five types of possible risk are calculated from the SRE: current releases, worker exposures, future releases, physical hazards, and criticality. The Current Release Index (CRI) calculates the current risk to human health and the environment, exterior to the building, from ongoing or probable releases within a one-year time period. The Worker Exposure Index (WEI) calculates the current risk to workers, occupants and visitors inside contaminated D&D facilities due to contaminant exposure. The Future Release Index ...
With the advent of computer technology, researchers and instructors are attempting to devise computer support for effective collaborative technical writing. In this study, a computer-supported environment for collaborative technical writing was developed. This system (Process-Writing Wizard) provides process-oriented scaffolds and a synchronous online chat room to facilitate real-time collaborative writing practice. It allows multiple students to work synchronously on collaborative writing tasks via the Internet. It also helps develop collaborative writing strategies, such as creating team agendas, brainstorming, creating team outlines, and generating team articles. An experiment was conducted to examine the effect of the system on EFL (English as a Foreign Language) students? collaborativ...
An ion processing element employing composite media disposed in a porous substrate, for facilitating removal of selected chemical species from a fluid stream. The ion processing element includes a porous fibrous glass substrate impregnated by composite media having one or more active components supported by a matrix material of polyacrylonitrile. The active components are effective in removing, by various mechanisms, one or more constituents from a fluid stream passing through the ion processing element. Due to the porosity and large surface area of both the composite medium and the substrate in which it is disposed, a high degree of contact is achieved between the active component and the fluid stream being processed. Further, the porosity of the matrix material and the substrate facilitates use of the ion processing element in high volume applications where it is desired to effectively process a high volume flows.
In many species social behaviors are dependent on integration of chemosensory and hormonal cues. Many chemosensory stimuli are detected by the vomeronasal organ, which projects to many regions that contain steroid receptors, including the medial amygdala. In male hamsters, testosterone is known to acutely increase in response to chemosensory stimulation, and can facilitate sexual behavior by direct action within the medial amygdala. Conspecific stimuli activate the anterior (MeA) and posterior (MeP) medial amygdala, while heterospecific stimuli activate only MeA. Chemosensory stimuli with different social significance differentially activate the dorsal and ventral subdivisions of MeA and MeP. Therefore, it is likely that steroids differentially facilitate stimulation of the medial amygdala...
A methodology is proposed to facilitate the construction of gridded bathymetry data for the use of hydrodynamic models on the continental shelf. It relies on the carrying out of three successive tasks: (1) automatic selection of records of better quality among multiple sets of overlapping data; (2) elimination of data points located on land; and (3) taking into account the shoreline as bathymetric data. Algorithms are proposed to perform sorting of the records according to their quality as well as masking by the coastline. The suggested method facilitates the updating of bathymetry data and optimizes their use. It enables automatic execution of all the tasks and building of new digital bathymetry models in a few hours, without action from the operator. The method has been tested many times...
Full text.National programs of neonatal screening were introduced in most countries and have proved their effectiveness against different types of retardation in children. Congenital hypothyroidism is one of the most common causes of physical and mental retardation in children. Programs of screening have shown that the incidence of this disorder is ethnic-background: it is low in Africans: 1-32000 whereas it is 1-3500 and 1-5000 in Hispanic and European newborns respectively. No previous mass screening programs were done in Lebanon. For this purpose, this program was introduced in collaboration with the IAEA. Cord blood is spotted into circles on filter paper just after delivery. These samples are air-dried at room temperature and kept at 4 degree C. They are then collected from hospitals to be screened. In the laboratory, all samples are assayed for IRMA TSH first. Those showing high or borderline TSH ...
Colorectal cancer (CRC) is a highly conversed topic, particularly since implementation of screening for CRC is imminent within the U.K. Aims: The aim of this research project was to examine the diagnostic tools currently used within the UK to detect CRC and their impact on the aetiology and epidemiology of CRC. Methodology: The complexity of the research topic lent itself towards a literature review. A systematic approach of researching was therefore adopted to analyse and critically evaluate the reliability and validity of articles. Electronic databases including AMED, Cancerlit, CINHAL, the Cochrane Library, EMBASE, MEDLINE and EBM-Reviews were utilised to provide a wide spectrum of recent and relevant articles. Other research strategies involved looking for books relating to the topics, which were kept to within 6 years of publication to maintain accuracy of information. Selected websites, such as NICE, the Department of Health, NHS websites and Cancer Research ...
A preliminary database has been developed that will allow mineralogy and bulk-rock geochemical information to be managed under configuration control and facilitate electronic querying. The database is currently developed in Microsoft Access as a collection of tables, views, and entry forms. Each field and table has been described in a data dictionary.
Scyl1 is an evolutionarily conserved N-terminal protein kinase-like domain protein that plays a role in COP1-mediated retrograde protein trafficking in mammalian cells. Furthermore, loss of Scyl1 function...Full Text Available
Intimin facilitates intestinal colonization by enterohemorrhagic Escherichia coli O157:H7; however, the importance of intimin binding to its translocated receptor (Tir) as opposed to...Full Text Available
Pumping is one of the means for storing vast quantities of energy. This article analyses its principles and ways of implementation with emphasis on its double aspect, e.g., on the one hand, off-peak power is transferred to the periods of heaviest load and is thus valorized, even when taking into account losses due to poor efficiency of operations in the pumping and turbine modes, and on the other hand, plants have great flexibility in operation, faciliting the permanent fitting of generation to demand.
A tiered communications architecture for managing network traffic in a distributed system. Communication between client or control computers and a plurality of hardware devices is administered by agent and monitor devices whose activities are coordinated to reduce the number of open channels or sockets. The communications architecture also improves the transparency and scalability of the distributed system by reducing network mapping dependence. The architecture is desirably implemented in a proton beam therapy system to provide flexible security policies which improve patent safety and facilitate system maintenance and development.
This device has and head-race pipe with an external part and a coaxial inner part. A measuring head is mounted movable between these 2 parts and has at least a thermocouple and a mobile grid for varying the section and the sodium flow to facilitate the impurities dissolution. This ensemble is completed by a longitudinal body containing the main parts of the indicator and surrounded by a thermal exchanger to cool the sodium.
The invention deals with a pumping plant for oil filled power cables. An air driven piston type pump is used as primary pump. A PLS (Programmable Logic control System) is used to control the oil flow to the cable(s). Improvements of the pump includes means for ensuring that the pump piston is operated also at low pressure and flow, and means for sealing off the piston rod to ensure maximum life of seals, to facilitate detection of possible leakages and to avoid contamination of the cable oil. 3 figs.
Norad commissioned Econ Poeyry to map teaching and research activities and capacity related to clean energy in selected Ethiopian universities. The mapping identified challenges and opportunities with the aim of facilitating future intervention by the Ethiopian Government and donors to help improve the energy sector development of the country. The report covered the government-owned universities of Bahir Dar, Mekelle, Jimma, Arba Minch and Addis Ababa. The mapping was based on a questionnaire and on interviews at each university. (Author)
ABSTRACT Extending the unified theory of acceptance and use of technology (UTAUT) model, this study postulates a model of online social support. The model is empirically tested using data from undergraduates in Taiwan regarding their usage of instant messaging (IM). The test results indicate that all model paths are significant, except that the path between online social support and facilitating conditions is insignificant. This study offers limitations and implications.
A cryostat is described that was developed for irradiating a number of small metal specimens with a high beamcurrent of heavy particles at liquid nitrogen temperature. The specimens, which are mounted on a block, are taken out of the cryostat after irradiation and subsequently annealed in a temperature bath. The progress of annealing is followed by measuring the change in electrical resistivity of the specimens in liquid helium. (auth)
This article investigates the societal conditions that might help the establishment of peer-to-peer modes of production. First, the context within which such a new model is emerging - the neoliberal knowledge-based-societies - is described, and its shortcomings unveiled; and second, a robust argument is provided for the moral legitimation of an alternative societal vision, including two structural policies that are likely to facilitate the establishment and further development of peer-to-peer practices.
Revisions at steam turbines should present a problem-free procedure due to the long use of these machines. Changes in the market result in difficulties during the inspection work. The shortage of qualified personnel and manufacturing capacities are the cause for these difficulties. Important procedures of revisions are described in detail in the VGB regulations. Direct contacts between the customers and the suppliers facilitate the expirations substantially. In the case of good planning and under consideration of the well-known regulations, a revision can be accomplished to the satisfaction of customers and suppliers.
DescriptionEnzymes are natural catalysts that are used increasingly to replace environmentally harmful chemicals and to achieve better catalytic selectivity during pulp and paper processing. The main objective of this project is to identify novel plant enzymes for deeper understanding of the process of fibre formation and for future improvement of the quality parameters of wood fibres. Specific modification of the fibre characteristics will facilitate their use as raw materials for the current pulp and pap [continued...
Describes the Indonesian system of education of Islamic schooling, secular education, and out-of-school education. The provision of 9-year universal basic education is planned by 2004. The national plan challenges the education system to facilitate the change in Indonesia's economic structure from an agriculturally based system to one more dependent on manufacturing and service industries. (SLD)
... 01, 2009 | Rate It Marine Technology Society https://www.mtsociety.org/home.aspx emphasizes the importance of marine technology as it applies to global issues, encourages marine technology education and facilitates the use of marine technology in managing marine resources Added: Mar. 11, 2010 |...
Response of control valves plays an important role in the dynamics of the flow system as a whole. Knowledge of its transfer function would facilitate analysis of the behaviour of the system. This paper presents the application of Levy's complex curve fitting method for determination of the transfer function of control valves used in Liquid Zone Control System of 540 MWe PHWR. (author)
In order to facilitate observations of low energy nuclear reactions, a new type recoil mass-separator together with a new gas-jet target system is being developed at the tandem accelerator facility in Kyushu University. The expected mass-resolving power of the separator is 220 for a solid angle of 10 msr and the practical thickness of the gas-jet target will exceed 0.1 atm#centre dot#cm for the light elements of H and He. (author).
For verification of cow fertility a /sup 3/H radioimmunoassay of progesterone in milk and blood plasma was developed. It is of high specificity and accuracy as well. Extraction of progesterone from milk was facilitated by application of alcohol. Suggested differences in milk and plasma progesterone levels between pregnant and nonpregnant cows could be revealed.
Computer tomography used in the diagnosis of tumours is described in the light of particularly great diagnostic difficulties in children. Computer tomography was applied in 12 cases. A high diagnostic value of this method was demonstrated, which makes possible a more accurate diagnosis of the position of the tumour, its size, and expanding tendency. The possibility of estimating healthy tissues and organs, and those with pathological changes on the basis of differences in their density with a detection threshold at 0.5% density difference facilitates not infrequently preoperative diagnosis raising the value of the method.
As a self-teaching tool, this illustrated guide facilitates home study of the complexities of thoracic CT's. Over 400 illustrations and accompanying copy are used to provide a basis for understanding the CT appearances of disease processes and a comparison of CT lookalikes. It updates new and interesting developments in the format of case presentations.
The Atlantic Wind Test Site was established in 1980 as a laboratory to facilitate the evaluation and demonstration of wind energy systems and equipment. This annual report describes its organization and management, facilities, major projects, and the outlook for the future. Major projects include wind diesel; AWTS-IREQ collaboration; remote community data acquisition; lagerwey test program; Alaska Energy Authority Project; public education; Atlantic Orient Corporation 15/50 Project; and the soft VAWT project.
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 ...
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.
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.
One of the initial stages in ecological risk assessment for hazardous waste sites is the screening of contaminants to determine which of them are worthy of further consideration as ''contaminants of potential concern.'' This process is termed ''contaminant screening.'' It is performed by comparing measured ambient concentrations of chemicals to benchmark concentrations. Currently, no standard benchmark concentrations exist for assessing contaminants in soil with respect to their toxicity to plants. This report presents a standard method for deriving benchmarks for this purpose (phytotoxicity benchmarks), a set of data concerning effects of chemicals in soil or soil solution on plants, and a set of phytotoxicity benchmarks for 34 chemicals potentially associated with US Department of Energy (DOE) sites. Chemicals that are found in soil at concentrations exceeding both the phytotoxicity benchmark and the background concentration for the soil type ...
One of the initial stages in ecological risk assessments for hazardous waste sites is the screening of contaminants to determine which of them are worthy of further consideration as open-quotes contaminants of potential concern.close quotes This process is termed open-quotes contaminant screening.close quotes It is performed by comparing measured ambient concentrations of chemicals to benchmark concentrations. Currently, no standard benchmark concentrations exist for assessing contaminants in soil with respect to their toxicity to soil- and litter-dwelling invertebrates, including earthworms, other micro- and macroinvertebrates, or heterotrophic bacteria and fungi. This report presents a standard method for deriving benchmarks for this purpose, sets of data concerning effects of chemicals in soil on invertebrates and soil microbial processes, and benchmarks for chemicals potentially associated with United States Department of Energy sites. In ...
Constitutive activation of the oncogenic transcription factor STAT3 frequently occurs in various human malignancies. STAT3 activation involves dimerization via intermolecular pTyr-SH2 interaction. Thus, antagonizing this interaction is a feasible approach to inhibit STAT3 activation for cancer therapy. In order to identify selective STAT3 inhibitors, we developed a biochemical HTS system based on AlphaScreen technology, which measures the abilities of test compounds to antagonize pTyr-SH2 interactions. We screened our chemical libraries using this system and identified 5,15-diphenylporphyrin (5,15-DPP) as a selective STAT3-SH2 antagonist. Selective inhibition of STAT3 nuclear translocation and DNA biding activity was observed in cells treated with 5,15-DPP. IL-6-dependent dimerization of STAT3, c-myc promoter binding and c-myc protein expression were all suppressed by 5,15-DPP, whereas no decrement in either expression or phosphorylation level ...
The image quality of digital luminescent radiography (DLR) is sufficient for routine biplane chest radiography and for follow-up studies of heart size, pulmonary congestion, coin lesions, infiltrations, atelectasis, pleural effusions, and mediastinal and hilar lymph node enlargement. Chest radiography in the intensive care unit may in most cases be performed using the DLR technique. there is no need for repeat shots because of incorrect exposure, and the position of catheters, tubes, pacemakers, drains and artificial heart valves, the mediastinum, and the retrocardiac areas of the left lung are more confidently assessed on the edge-enhanced DLR films than on conventional films. Nevertheless, DLR is somewhat inferior to conventional film-screen radiography of the chest as it can demonstrate or rule out subtle pulmonary interstitial disease less confidently. There is no reduction of radiation exposure of the chest in DLR compared with modern ...
Present day mammography has not been able to make use of the advantages of digital luminescence radiography because of the limited spatial resolution. The recent development of electromagnetic focusing X-ray tube with effective focal spot sizes from 0.04 to 0.12 mm allows radiographic direct magnification with less geometric blur. It is now possible to combine direct magnification mammography with digital luminescence radiography. By combining high quality storage phosphor screens with an HQ-workstation a spatial resolution of 8 lp/mm is possible for 1.7-fold magnification. For 4-fold spot magnification views spatial resolution can be theoretically increased to approx. 20 lp/mm. One important advantage of digital radiography is the possibility of image-postprocessing. This article presents two sets of standard parameters and three sets of image dependent parameters for better imaging of specific lesions, such as microcalcifications. The introduction of the storage ...
In an effort to evaluate the feasibility of introducing computed radiography (FCR) into mass screening for lung cancer, the ability of FCR to detect nodules one cm in diameter was examined using a humanoid chest phantom. Based on the receiver operating characteristic (ROC) analysis, the detectability of FCR was compared with that of conventional radiography and photofluorography. The values of area under ROC curves were higher for FCR (0.963 for image similar to that with conventional film-intensifying screen system, image A; and 0.952 for processed image, image B) than the other two methods (0.774 for radiography and 0.789 for photofluorography). Degradation of image quality in FCR could be avoided by a wide latitude even if proper exposure techniques might not be employed. Images A and B in FCR yielded excellent delineation for nodules in the lung field and in the retrocardiac and subdiaphragmatic regions, respectively. This may have ...
In an effort to evaluate the feasibility of introducing computed radiography (FCR) into mass screening for lung cancer, the ability of FCR to detect nodules one cm in diameter was examined using a humanoid chest phantom. Based on the receiver operating characteristic (ROC) analysis, the detectability of FCR was compared with that of conventional radiography and photofluorography. The values of area under ROC curves were higher for FCR (0.963 for image similar to that with conventional film-intensifying screen system, image A; and 0.952 for processed image, image B) than the other two methods (0.774 for radiography and 0.789 for photofluorography). Degradation of image quality in FCR could be avoided by a wide latitude even if proper exposure techniques might not be employed. Images A and B in FCR yielded excellent delineation for nodules in the lung field and in the retrocardiac and subdiaphragmatic regions, respectively. This may have ...
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 ...
Nano- and microstructured surfaces are known to impact on the binding and differentiation of cells, but the detailed basic understanding of the underlying regulatory mechanisms is still scarce, which impedes the rational design of smart biomaterials. Towards a comprehensive analysis of the interplay between topographical parameters such as feature design and lateral and vertical dimensions we here report on a combinatorial screening approach, BioSurface Structure Array (BSSA) of test squares each with a distinct topography. Using such BSSA libraries of 504 topographically distinct surface structures, we have identified combinations of size, gap and height of structures which enhance mineralization as well as the expression of osteogenic markers of a preosteoblastic murine cell line. This g...
Four-enzyme section of the shikimate pathway (Aro B, D, E, and K) of Streptococcus pneumoniae has been studied. Kinetic properties of the individual enzymes and three- and four-enzyme linked reactions have been characterized in vitro. On the basis of the data measured in spectrophotometric and LC-MS experiments, kinetic mechanisms of the enzymes have been suggested and all kinetic parameters have been identified. Kinetic models for these three- and four-enzyme sections of the shikimate pathway have been constructed and validated. The model of the four-enzyme section of shikimate pathway has been employed to design an inhibition-sensitive reconstituted pathway for a high-throughput screening effort on the shikimate pathway. It was demonstrated that using the model it was possible to optimize this reconstituted pathway in such a way to provide equal sensitivity of the enzymes to inhibition. PMID:16921527
The Systems Analysis Programs for Hands-on Integrated Reliability Evaluations (SAPHIRE) refers to a set of several microcomputer programs that were developed to create and analyze probabilistic risk assessments (PRAs), primarily for nuclear power plants. The Fault Tree, Event Tree, and Piping and Instrumentation Diagram (FEP) editors allow the user to graphically build and edit fault trees, and event trees, and piping and instrumentation diagrams (P and IDs). The software is designed to enable the independent use of the graphical-based editors found in the Integrated Reliability and Risk Assessment System (IRRAS). FEP is comprised of three separate editors (Fault Tree, Event Tree, and Piping and Instrumentation Diagram) and a utility module. This reference manual provides a screen-by-screen guide of the entire FEP System.
Over 100 candidates were examined, including commercial materials and many that were synthesized in house. The mixed oxides were based on Ti, V, Nb, Cr, Mo, W, Mn, Fe, Co, Ni, and Cu doped with other transition metals. A number of individual (single-metal) oxides were included for comparison. The candidates were tested in single cells with Li(Si) anodes and separators based on LiCl-KCl eutectic. Screening was done under constant-current conditions at current densities of 125 me/cm{sup 2} and, to a lesser extent, 50 me/cm{sup 2} at 500 C. Relative performance and limitations of the oxide cathodes are discussed.
Full text: Immunoassays for prostate-specific antigen (PSA) are used to detect early-stage prostate cancer, monitor disease progress, and evaluate therapeutic response. At least two forms of PSA, free PSA (F-PSA) and PSA complexed to alpha-1 anti-chymotrypsin (PSA-ACT) are detected by commercial PSA assays. The fraction of F-PSA is shown to be smaller in patients with untreated prostate cancer than in patients with benign prostate hyperplasia (BPH). Thus, combined measurements of both total and free PSA are used for a better discrimination between BPH and prostate cancer. Detection of PSA for screening of prostate cancer has been a subject of debate for many years. The reason of this debate is mainly because screening for prostate cancer is not cost-effective, as was shown by studies undertaken in Europe and United States. In Lebanon, no previous programs of screening for prostate cancer were done and so the incidence of ...
There is a need for earlier and more accurate cancer diagnostics as well as new targets for cancer immunotherapy. To this end, it is important to identify sets of tumour antigens specific for different cancer forms. Several methods that identify potential tumour antigens in an arrayed and high-throughput format have been developed during the last years of SEREX (serological identification of antigens by recombinant expression cloning) related research. Such techniques may hold the potential to describe the complete immunogenic part of the cancer proteome, also called the cancer immunoproteome.We have developed a powerful platform for automated serological high-throughput filter screening of tumour cDNA libraries. The screening format of this method is 18,000 single cDNAs clones, which is s...
Introduction: Academic research has made a significant advancement in understanding the viral causes of cervical cancer and generating the technology for prevention, both at the primary and secondary levels. Human papillomaviruses (HPVs) have been recognized as the first necessary cause of cervical cancer, the second most common cancer in women worldwide. Areas covered: This paper reviews the epidemiological evidence of the causality of HPV in relation to cervical cancer, other genital tract cancers and some cancers of the oral cavity and oropharynx. The review also covers HPV DNA testing as a screening tool. DNA probes of high-risk HPV types in different formats have been fully validated as primary screening tests, as secondary triage tests and as a prognostic marker following treatment o...
Optimization of nonviral gene delivery typically focuses on the design of particulate carriers that are endowed with desirable membrane targeting, internalization, and endosomal escape properties. Topographical control of cell transfectability, however, remains a largely unexplored parameter. Emerging literature has highlighted the influence of cell-topography interactions on modulation of many cell phenotypes, including protein expression and cytoskeletal behaviors implicated in endocytosis. Using high-throughput screening of primary human dermal fibroblasts cultured on a combinatorial library of microscale topographies, we have demonstrated an improvement in nonviral transfection efficiency for cells cultured on dense micropit patterns compared to smooth substrates, as verified with flow...
A qualitative method, involving supported liquid?liquid extraction (SLE) and ultra high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC-MS?MS), was developed for the rapid tentative identification of various drugs of abuse in urine. In this study, 28 drugs and metabolites were covered by the screening procedure. Before analysis, urine samples were extracted by SLE and good extraction recoveries were obtained for most investigated compounds. The UHPLC strategy was then selected for the rapid separation of amphetamines, cocaine, opiates and related compounds in urine. Using columns packed with sub-2??m particles, analysis time was reduced down to 2?min, while maintaining acceptable performance. Finally, the detection was by tandem MS operating in the single reaction...
Ferroelectric disks, coated with proper electrodes, can easily produce a dense plasma cloud when excited with a high-voltage pulse. This plasma can be a source of either electrons or ions depending on the sign of the extracting field set in front of the disk. We present the behavior of the disks operating at high frequency as emitters of both electrons and ions in two experimental configurations: (a) without and (b) with two screening grids. These two screening grids are inserted when the plasma must be confined within the cathode region. The system is capable of providing ion pulses of a few hundred milliamperes, whose length can range from a hundred nanoseconds to dozen microseconds. The electron pulses of energetic electrons have typically an amplitude higher than a couple of amperes. Tests at MHz repetition rate were positive as for stable operation.
Fires and explosions have been identified as major potential hazards for Oil and Gas Floating Production Storage Offloading (FPSO) installations and pose risk to personnel, assets, and the environment. Current fire and explosion assessment (FEA) tools require physical effect modeling software and follows standards from API, ISO, and engineering practices. However, the tools are not specific to any particular system such as an FPSO, and do not provide comprehensive guidance for safety engineers to perform FEA. This paper discusses the development of a screening and comparison tool for FEA on FPSOs and the incorporation of an expert system into the tool. The results are computerized using MS Excel/VBA to provide a structured and comprehensive assessment on each equipment and module handling ...
This paper introduces a parallel measurement approach for fast infrared-based human temperature screening suitable for use in a large public area. Our key idea is based on the combination of simple image processing algorithms, infrared technology, and human flow management. With this multidisciplinary concept, we arrange as many people as possible in a two-dimensional space in front of a thermal imaging camera and then highlight all human facial areas through simple image filtering, image morphological, and particle analysis processes. In this way, an individual's face in live thermal image can be located and the maximum facial skin temperature can be monitored and displayed. Our experiment shows a measured 1ms processing time in highlighting all human face areas. With a thermal imaging ca...
'The overall objective of the basic research grant is to characterize the potential of common hydrocarbon contaminants in ecosystems to act as endocrine disruptors. The three major lines of research include (1) a biotechnology based screening system to identify potential hormone mimics and antagonists; (2) an animal screening system to identify biomarkers of endocrine effects. and (3) a literature review to identify compounds at a variety of DOE sites that need to be examined for endocrine disrupting effects. By relating results obtained from this research project to contamination problems at various DOE sites. CBR will provide data and information on endocrine disrupting contaminants to DOE for consideration in risk analyses for determining clean-up levels and priorities needed at the sites.'
This document, which is prepared as directed by the Compliance Order on Consent (COOC) issued by the New Mexico Environment Department, identifies and outlines a process to evaluate remedial alternatives to identify a corrective measure for the Sandia National Laboratories New Mexico Technical Area (TA)-V Groundwater. The COOC provides guidance for implementation of a Corrective Measures Evaluation (CME) for the TA-V Groundwater. This Work Plan documents an initial screening of remedial technologies and presents a list of possible remedial alternatives for those technologies that passed the screening. This Work Plan outlines the methods for evaluating these remedial alternatives and describes possible site-specific evaluation activities necessary to estimate remedy effectiveness and cost. These methods will be reported in the CME Report. This Work Plan outlines the CME Report, including key components and a description of the corrective ...
This document, which is prepared as directed by the Compliance Order on Consent (COOC) issued by the New Mexico Environment Department, identifies and outlines a process to evaluate remedial alternatives to identify a corrective measure for the Sandia National Laboratories/New Mexico Technical Area (TA)-V Groundwater. The COOC provides guidance for implementation of a Corrective Measures Evaluation (CME) for the TA-V Groundwater. This Work Plan documents an initial screening of remedial technologies and presents a list of possible remedial alternatives for those technologies that passed the screening. This Work Plan outlines the methods for evaluating these remedial alternatives and describes possible site-specific evaluation activities necessary to estimate remedy effectiveness and cost. These methods will be reported in the CME Report. This Work Plan outlines the CME Report, including key components and a description of the corrective ...
During LOCA(Loss of Coolant Accident), emergency core coolant supplements form a recirculation sump and cooled core and containment. When the double ended guillotine Break (DEGB) at the hot leg near steam generator, due to the jet impingement discharge flow, the debris could be potentially generated at pipe or wall nearby steam generator and be transported to the recirculation sump. Therefore, the debris could be accumulated and be clogged in the recirculation sump screen. If debris blocked the sump screen, the pressure drop increased at the screen so as to increase the pressure loss of ECCS (Emergency Core Cooling System) pump NPSH (Net positive suction head). It is potentially influenced to decrease the long-term cooling capability of the recirculation sump. The recirculation sump screen clogging accident has happened in BWR at 1990. Considering the important of safety, US NRC published Regulatory ...
Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available
An introduction is presented on the radiation hazards connected with biomedical radiography and nuclear medicine. The frequency of radiodiagnostic efforts was rather high in the Netherlands. This was reduced considerably by abolishing the thorax screening of the population. About diagnostic nuclear medicine less can be said because far fewer numerical data are available. An exposition of genetically and somatically significant doses and how to compute them is given. The drawing up of a profit versus risk evaluation for medical applications of ionizing radiations is recommended. (Auth.).
Fragrance mix II (FM II) is a relatively new screening marker for fragrance contact allergy. It was introduced in the patch test baseline series in Denmark in 2005 and contains six different fragrance chemicals commonly present in cosmetic products and which are known allergens.
A fast and simple flow-through optosensor was designed and characterized for the direct screening of four tetracycline (TCC) antibiotics (tetracycline, oxytetracycline, chlortetracycline and doxycycline) in water and bovine milk samples. The proposed optosensor provides rapid binary yes/no overall responses, being appropriate for the screening of this family of antibiotics above or below a pre-set concentration threshold. The experimental set-up is based on a flow-injection manifold coupled on-line to a phosphorescence detector. Aliquots of the samples are pretreated with Eu(III) to form room temperature phosphorescent metal chelates and injected in the flow manifold. Those chelates are then on-line retained on a conventional flow-cell (packed with polymeric Amberlite XAD-4 particles) which is placed inside the cell holder of the phosphorimeter. After the emission is registered, the antibiotic-metal complexes are eluted from the packed resin ...
The CT colonography or virtual coloscopy is a new diagnostic method that allows the presentation of the whole colon using minimal invasive procedures. The method allows the detection of colorectal polyps and colorectal carcinomas. The book includes the following chapters: indications for CT colonography, diagnostic procedures, data processing and interpretation, diagnostic findings, preparation of the diagnostic result description and documentation, screening.