Mutations affecting RNA polymerase I-stimulated exchange and rDNA recombination in yeast

International Nuclear Information System (INIS)

Lin, Y.H.; Keil, R.L.

1991-01-01

HOT1 is a cis-acting recombination-stimulatory sequence isolated from the rDNA repeat unit of yeast. The ability of HOT1 to stimulate mitotic exchange appears to depend on its ability to promote high levels of RNA polymerase I transcription. A qualitative colony color sectoring assay was developed to screen for trans-acting mutations that alter the activity of HOT1. Both hypo-recombination and hyper-recombination mutants were isolated. Genetic analysis of seven HOT1 recombination mutants (hrm) that decrease HOT1 activity shows that they behave as recessive nuclear mutations and belong to five linkage groups. Three of these mutations, hrm1, hrm2, and hrm3, also decrease rDNA exchange but do not alter recombination in the absence of HOT1. Another mutation, hrm4, decreases HOT1-stimulated recombination but does not affect rDNA recombination or exchange in the absence of HOT1. Two new alleles of RAD52 were also isolated using this screen. With regard to HOT1 activity, rad52 is epistatic to all four hrm mutations indicating that the products of the HRM genes and of RAD52 mediate steps in the same recombination pathway. Finding mutations that decrease both the activity of HOT1 and exchange in the rDNA supports the hypothesis that HOT1 plays a role in rDNA recombination

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.

Directory of Open Access Journals (Sweden)

Gemma L Walmsley

2010-01-01

Full Text Available Duchenne muscular dystrophy (DMD, which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupt the reading frame resulting in unstable truncated products. For these patients, restoration of the reading frame via antisense oligonucleotide-mediated exon skipping is a promising therapeutic approach. The major DMD deletion "hot spot" is found between exons 45 and 53, and skipping exon 51 in particular is predicted to ameliorate the dystrophic phenotype in the greatest number of patients. Currently the mdx mouse is the most widely used animal model of DMD, although its mild phenotype limits its suitability in clinical trials. The Golden Retriever muscular dystrophy (GRMD model has a severe phenotype, but due to its large size, is expensive to use. Both these models have mutations in regions of the dystrophin gene distant from the commonly mutated DMD "hot spot".Here we describe the severe phenotype, histopathological findings, and molecular analysis of Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD. The dogs harbour a missense mutation in the 5' donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein. Antisense oligonucleotide-mediated skipping of exon 51 in cultured myoblasts from an affected dog restored the reading frame and protein expression.Given the small size of the breed, the amiable temperament and the nature of the mutation, we propose that CKCS-MD is a valuable new model for clinical trials of antisense oligonucleotide-induced exon skipping and other therapeutic approaches for DMD.

HotSpot Wizard 3.0: web server for automated design of mutations and smart libraries based on sequence input information.

Science.gov (United States)

Sumbalova, Lenka; Stourac, Jan; Martinek, Tomas; Bednar, David; Damborsky, Jiri

2018-05-23

HotSpot Wizard is a web server used for the automated identification of hotspots in semi-rational protein design to give improved protein stability, catalytic activity, substrate specificity and enantioselectivity. Since there are three orders of magnitude fewer protein structures than sequences in bioinformatic databases, the major limitation to the usability of previous versions was the requirement for the protein structure to be a compulsory input for the calculation. HotSpot Wizard 3.0 now accepts the protein sequence as input data. The protein structure for the query sequence is obtained either from eight repositories of homology models or is modeled using Modeller and I-Tasser. The quality of the models is then evaluated using three quality assessment tools-WHAT_CHECK, PROCHECK and MolProbity. During follow-up analyses, the system automatically warns the users whenever they attempt to redesign poorly predicted parts of their homology models. The second main limitation of HotSpot Wizard's predictions is that it identifies suitable positions for mutagenesis, but does not provide any reliable advice on particular substitutions. A new module for the estimation of thermodynamic stabilities using the Rosetta and FoldX suites has been introduced which prevents destabilizing mutations among pre-selected variants entering experimental testing. HotSpot Wizard is freely available at http://loschmidt.chemi.muni.cz/hotspotwizard.

Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors.

Science.gov (United States)

Antonescu, Cristina R; Sommer, Gunhild; Sarran, Lisa; Tschernyavsky, Sylvia J; Riedel, Elyn; Woodruff, James M; Robson, Mark; Maki, Robert; Brennan, Murray F; Ladanyi, Marc; DeMatteo, Ronald P; Besmer, Peter

2003-08-15

Activating mutations of the KIT juxtamembrane region are the most common genetic events in gastrointestinal stromal tumors (GISTs) and have been noted as independent prognostic factors. The impact of KIT mutation in other regions, such as the extracellular or kinase domains, is not well-defined and fewer than 30 cases have been published to date. One hundred twenty GISTs, confirmed by KIT immunoreactivity, were evaluated for the presence of KIT exon 9, 11, 13, and 17 mutations. The relation between the presence/type of KIT mutation and clinicopathological factors was analyzed using Fisher's exact test and log-rank test. Forty-four % of the tumors were located in the stomach, 47% in the small bowel, 6% in the rectum, and 3% in the retroperitoneum. Overall, KIT mutations were detected in 78% of patients as follows: 67% in exon 11, 11% in exon 9, and none in exon 13 or 17. The types of KIT exon 11 mutations were heterogeneous and clustered in the classic "hot spot" at the 5' end of exon 11. Seven % of cases showed internal tandem duplications (ITD) at the 3' end of exon 11, in a region that we designate as a second hot spot for KIT mutations. Interestingly, these cases were associated with: female predominance, stomach location, occurrence in older patients, and favorable outcome. There were significant associations between exon 9 mutations and large tumor size (P < 0.001) and extragastric location (P = 0.02). Ten of these 13 patients with more than 1-year follow-up have developed recurrent disease. Most KIT-expressing GISTs show KIT mutations that are preferentially located within the classic hot spot of exon 11. In addition, we found an association between a second hot spot at the 3'end of exon 11, characterized by ITDs, and a subgroup of clinically indolent gastric GISTs in older females. KIT exon 9 mutations seem to define a distinct subset of GISTs, located predominantly in the small bowel and associated with an unfavorable clinical course.

An automated decision-tree approach to predicting protein interaction hot spots.

Science.gov (United States)

Darnell, Steven J; Page, David; Mitchell, Julie C

2007-09-01

Protein-protein interactions can be altered by mutating one or more "hot spots," the subset of residues that account for most of the interface's binding free energy. The identification of hot spots requires a significant experimental effort, highlighting the practical value of hot spot predictions. We present two knowledge-based models that improve the ability to predict hot spots: K-FADE uses shape specificity features calculated by the Fast Atomic Density Evaluation (FADE) program, and K-CON uses biochemical contact features. The combined K-FADE/CON (KFC) model displays better overall predictive accuracy than computational alanine scanning (Robetta-Ala). In addition, because these methods predict different subsets of known hot spots, a large and significant increase in accuracy is achieved by combining KFC and Robetta-Ala. The KFC analysis is applied to the calmodulin (CaM)/smooth muscle myosin light chain kinase (smMLCK) interface, and to the bone morphogenetic protein-2 (BMP-2)/BMP receptor-type I (BMPR-IA) interface. The results indicate a strong correlation between KFC hot spot predictions and mutations that significantly reduce the binding affinity of the interface. 2007 Wiley-Liss, Inc.

The molecular anatomy of spontaneous germline mutations in human testes.

Directory of Open Access Journals (Sweden)

Jian Qin

2007-09-01

Full Text Available The frequency of the most common sporadic Apert syndrome mutation (C755G in the human fibroblast growth factor receptor 2 gene (FGFR2 is 100-1,000 times higher than expected from average nucleotide substitution rates based on evolutionary studies and the incidence of human genetic diseases. To determine if this increased frequency was due to the nucleotide site having the properties of a mutation hot spot, or some other explanation, we developed a new experimental approach. We examined the spatial distribution of the frequency of the C755G mutation in the germline by dividing four testes from two normal individuals each into several hundred pieces, and, using a highly sensitive PCR assay, we measured the mutation frequency of each piece. We discovered that each testis was characterized by rare foci with mutation frequencies 10(3 to >10(4 times higher than the rest of the testis regions. Using a model based on what is known about human germline development forced us to reject (p < 10(-6 the idea that the C755G mutation arises more frequently because this nucleotide simply has a higher than average mutation rate (hot spot model. This is true regardless of whether mutation is dependent or independent of cell division. An alternate model was examined where positive selection acts on adult self-renewing Ap spermatogonial cells (SrAp carrying this mutation such that, instead of only replacing themselves, they occasionally produce two SrAp cells. This model could not be rejected given our observed data. Unlike the disease site, similar analysis of C-to-G mutations at a control nucleotide site in one testis pair failed to find any foci with high mutation frequencies. The rejection of the hot spot model and lack of rejection of a selection model for the C755G mutation, along with other data, provides strong support for the proposal that positive selection in the testis can act to increase the frequency of premeiotic germ cells carrying a mutation

Rapid detection of RB1 recurrent mutations in retinoblastoma by ...

Indian Academy of Sciences (India)

In about half of the patients, one mutation is inherited via the germinal cells, while in the .... mutational hot spots in the RB1 gene, making genetic testing complex and challenging ... by direct sequencing. High normal background in sequenc-.

The rise and fall of a human recombination hot spot.

Science.gov (United States)

Jeffreys, Alec J; Neumann, Rita

2009-05-01

Human meiotic crossovers mainly cluster into narrow hot spots that profoundly influence patterns of haplotype diversity and that may also affect genome instability and sequence evolution. Hot spots also seem to be ephemeral, but processes of hot-spot activation and their subsequent evolutionary dynamics remain unknown. We now analyze the life cycle of a recombination hot spot. Sperm typing revealed a polymorphic hot spot that was activated in cis by a single base change, providing evidence for a primary sequence determinant necessary, though not sufficient, to activate recombination. This activating mutation occurred roughly 70,000 y ago and has persisted to the present, most likely fortuitously through genetic drift despite its systematic elimination by biased gene conversion. Nonetheless, this self-destructive conversion will eventually lead to hot-spot extinction. These findings define a subclass of highly transient hot spots and highlight the importance of understanding hot-spot turnover and how it influences haplotype diversity.

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Science.gov (United States)

Setia, Nitika; Saxena, Renu; Arora, Anjali; Verma, Ishwar C

2016-12-01

Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians. Sixteen homozygous FH subjects from eleven families were analyzed for mutations by Sanger sequencing. Large rearrangements in LDLR gene were evaluated by multiplex ligation probe dependent amplification (MLPA) technique. Ten mutations were observed in LDLR gene, of which four mutations were novel. No mutation was detected in ApoB gene and common PCSK9 mutation (p.D374Y). Fourteen cases had homozygous mutations; one had compound heterozygous mutation, while no mutation was detected in one clinically homozygous case. We report an interesting "Triple hit" case with features of homozygous FH. The spectrum of mutations in the Asian Indian population is quite heterogeneous. Of the mutations identified, 40% were novel. No mutation was observed in exons 3, 9 and 14 of LDLR gene, which are considered to be hot spots in studies done on Asian Indians in South Africa. Early detection followed by aggressive therapy, and cascade screening of extended families has been initiated to reduce the morbidity and mortality in these patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.

Science.gov (United States)

Yamamoto, Toshiyuki; Shimojima, Keiko; Kimura, Nobusuke; Mogami, Yukiko; Usui, Daisuke; Takayama, Rumiko; Ikeda, Hiroko; Imai, Katsumi

2015-01-01

The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were located in the same positions as previously reported pathogenic mutations. These recurrent occurrences of de novo mutations in the same loci may indicate hot spots of nucleotide alteration.

Crystal structure of type I ryanodine receptor amino-terminal [beta]-trefoil domain reveals a disease-associated mutation 'hot spot' loop

Energy Technology Data Exchange (ETDEWEB)

Amador, Fernando J.; Liu, Shuang; Ishiyama, Noboru; Plevin, Michael J.; Wilson, Aaron; MacLennan, David H.; Ikura, Mitsuhiko; (Toronto)

2009-12-01

Muscle contraction and relaxation is regulated by transient elevations of myoplasmic Ca{sup 2+}. Ca{sup 2+} is released from stores in the lumen of the sarco(endo)plasmic reticulum (SER) to initiate formation of the Ca{sup 2+} transient by activation of a class of Ca{sup 2+} release channels referred to as ryanodine receptors (RyRs) and is pumped back into the SER lumen by Ca{sup 2+}-ATPases (SERCAs) to terminate the Ca{sup 2+} transient. Mutations in the type 1 ryanodine receptor gene, RYR1, are associated with 2 skeletal muscle disorders, malignant hyperthermia (MH), and central core disease (CCD). The evaluation of proposed mechanisms by which RyR1 mutations cause MH and CCD is hindered by the lack of high-resolution structural information. Here, we report the crystal structure of the N-terminal 210 residues of RyR1 (RyR{sub NTD}) at 2.5 {angstrom}. The RyR{sub NTD} structure is similar to that of the suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor (IP3Rsup), but lacks most of the long helix-turn-helix segment of the 'arm' domain in IP3Rsup. The N-terminal {beta}-trefoil fold, found in both RyR and IP{sub 3}R, is likely to play a critical role in regulatory mechanisms in this channel family. A disease-associated mutation 'hot spot' loop was identified between strands 8 and 9 in a highly basic region of RyR1. Biophysical studies showed that 3 MH-associated mutations (C36R, R164C, and R178C) do not adversely affect the global stability or fold of RyRNTD, supporting previously described mechanisms whereby mutations perturb protein-protein interactions.

New Fks hot spot for acquired echinocandin resistance in Saccharomyces cerevisiae and its contribution to intrinsic resistance of Scedosporium species.

Science.gov (United States)

Johnson, Michael E; Katiyar, Santosh K; Edlind, Thomas D

2011-08-01

Echinocandins represent a new antifungal group with potent activity against Candida species. These lipopeptides inhibit the synthesis of β-1,3-glucan, the major cell wall polysaccharide. Acquired resistance or reduced echinocandin susceptibility (RES) is rare and associated with mutations in two "hot spot" regions of Fks1 or Fks2, the probable β-1,3-glucan synthases. In contrast, many fungi demonstrate intrinsic RES for reasons that remain unclear. We are using Saccharomyces cerevisiae to understand the basis for RES by modeling echinocandin-Fks interaction. Previously characterized mutations confer cross-RES; we screened for mutations conferring differential RES, implying direct interaction of that Fks residue with a variable echinocandin side chain. One mutant (in an fks1Δ background) exhibited ≥16-fold micafungin and anidulafungin versus caspofungin RES. Sequencing identified a novel Fks2 mutation, W714L/Y715N. Equivalent W695L/Y696N and related W695L/F/C mutations in Fks1 generated by site-directed mutagenesis and the isolation of a W695L-equivalent mutation in Candida glabrata confirmed the role of the new "hot spot 3" in RES. Further mutagenesis expanded hot spot 3 to Fks1 residues 690 to 700, yielding phenotypes ranging from cross-RES to differential hypersusceptibility. Fks1 sequences from intrinsically RES Scedosporium species revealed W695F-equivalent substitutions; Fks1 hybrids expressing Scedosporium prolificans hot spot 3 confirmed that this substitution imparts RES.

New Fks Hot Spot for Acquired Echinocandin Resistance in Saccharomyces cerevisiae and Its Contribution to Intrinsic Resistance of Scedosporium Species▿

Science.gov (United States)

Johnson, Michael E.; Katiyar, Santosh K.; Edlind, Thomas D.

2011-01-01

Echinocandins represent a new antifungal group with potent activity against Candida species. These lipopeptides inhibit the synthesis of β-1,3-glucan, the major cell wall polysaccharide. Acquired resistance or reduced echinocandin susceptibility (RES) is rare and associated with mutations in two “hot spot” regions of Fks1 or Fks2, the probable β-1,3-glucan synthases. In contrast, many fungi demonstrate intrinsic RES for reasons that remain unclear. We are using Saccharomyces cerevisiae to understand the basis for RES by modeling echinocandin-Fks interaction. Previously characterized mutations confer cross-RES; we screened for mutations conferring differential RES, implying direct interaction of that Fks residue with a variable echinocandin side chain. One mutant (in an fks1Δ background) exhibited ≥16-fold micafungin and anidulafungin versus caspofungin RES. Sequencing identified a novel Fks2 mutation, W714L/Y715N. Equivalent W695L/Y696N and related W695L/F/C mutations in Fks1 generated by site-directed mutagenesis and the isolation of a W695L-equivalent mutation in Candida glabrata confirmed the role of the new “hot spot 3” in RES. Further mutagenesis expanded hot spot 3 to Fks1 residues 690 to 700, yielding phenotypes ranging from cross-RES to differential hypersusceptibility. Fks1 sequences from intrinsically RES Scedosporium species revealed W695F-equivalent substitutions; Fks1 hybrids expressing Scedosporium prolificans hot spot 3 confirmed that this substitution imparts RES. PMID:21576441

The C-terminus hot spot region helps in the fibril formation of bacteriophage-associated hyaluronate lyase (HylP2).

Science.gov (United States)

Shukla, Harish; Singh, Sudhir Kumar; Singh, Amit Kumar; Mitra, Kalyan; Akhtar, Md Sohail

2015-09-23

The bacteriophage encoded hyaluronate lyases (HylP and HylP2) degrade hyaluronan and other glycosaminoglycans. HylP2 forms a functional fibril under acidic conditions in which its N-terminus is proposed to form the fibrillar core, leading to nucleation and acceleration of fibril formation. Here we report the presence of a hot spot region (A144GVVVY149) towards the carboxy terminus of HylP2, essential for the acceleration of fibril formation. The 'hot spot' is observed to be inherently mutated for valines (A178AMVMY183) in case of HylP. The N- terminal swapped chimeras between these phage HLs ((N)HylP2(C)HylP and (N)HylP(C)HylP2) or HylP did not form fibrils at acidic pH. However, seeding of prefibrils of HylP2 recompensed nucleation and led to fibrillation in (N)HylP(C)HylP2. The V147A mutation in the 'hot spot' region abolished fibril formation in HylP2. The M179V and M181V double mutations in the 'hot spot' region of HylP led to fibrillation with the seeding of prefibrils. It appears that fibrillation in HylP2 even though is initiated by the N-terminus, is accelerated by the conserved 'hot spot' region in the C-terminus. A collagenous (Gly-X-Y)10 motif in the N-terminus and a mutated 'hot spot' region in the C-terminus of HylP affect fibrillar nucleation and acceleration respectively.

Proton nuclear magnetic resonance studies on bulge-containing DNA oligonucleotides from a mutational hot-spot sequence

International Nuclear Information System (INIS)

Woodson, S.A.; Crothers, D.M.

1987-01-01

A series of bulge-containing and normal double-helical synthetic oligodeoxyribonucleotides, of sequence corresponding to a frame-shift mutational hot spot in the λ C/sub I/ gene, are compared by proton magnetic resonance spectroscopy at 500 MHz. The imino proton resonances are assigned by one-dimensional nuclear Overhauser effect spectroscopy. Nonselective T 1 inversion-recovery experiments are used to determine exchangeable proton lifetimes and to compare helix stability and dynamics of the three duplexes. An extra adenosine flanking the internal G-C base pairs has a strongly localized effect on helix stability, but the destabilizing effect of an extra cytidine in a C tract is delocalized over the entire G-C run. These data lead to the conclusion that the position of the bulge migrates along the run in the fast-exchange limit on the NMR time scale. Rapid migration of the bulge defect in homopolymeric sequences may help rationalize both frame-shift mutagenesis and translational frame shifting. The authors estimate that the unfavorable free energy of a localized bulge defect is 2.9-3.2 kcal/mol, in good agreement with earlier estimates for RNA helices

Pressure fluctuations on the bed of surge tank at the H.P. Zimapan, Hgo., with different arrangements studied on hydraulic model, with the lowest operation conditions; Fluctuaciones de presion en la base del pozo de oscilacion del P.H. Zimapan Hgo., con diferentes arreglos estudiados en modelo hidraulico ante las condiciones minimas de operacion

Energy Technology Data Exchange (ETDEWEB)

Marengo Mogollon, H. [Facultad de Ingenieria, Universidad Nacional Autonoma de Mexico (Mexico)]. E-mail: humberto.marengo@cfe.gob.mx; Ochoa Alvarez, F.J.; Cortes Cortes, C. [Comision Federal de Electricidad (Mexico)]. E-mail: federico.ochoa@cfe.gob.mx; carlos.cortes01@cfe.gob.mx

2009-10-15

In this paper, the pressure fluctuations of the surge tank in the Zimapan Hydroelectric Project are compared in a hydraulic model. The shaft is located lateral, over the conduction tunnel and in the simple form (permitting the tunnel entering the shaft); with and without orifice plates taking into account the demand and supply condition of energy with the minimum level of water of the conduction. It was determined the hydraulic efficiency and it was found that it was the best constructive option. [Spanish] En este articulo se comparan las fluctuaciones de presion en el pozo de oscilacion del P.H. Zimapan, Hgo., Mexico las cuales fueron estudiadas en modelo hidraulico al considerar dicho pozo ubicado en diferentes posiciones; lateralmente y sobre el eje de la conduccion; pozo simple y con tuberia de conexion; con y sin placa de orificio, para maniobras de rechazo y demanda de carga de las turbinas de generacion con el nivel del agua correspondiente al NAMINO. Se determino la eficiencia hidraulica comparandola con las otras opciones encontrandose que la mejor opcion para el funcionamiento hidraulico es el pozo lateral, que ademas permite optimizar el procedimiento constructivo.

Integrating water exclusion theory into βcontacts to predict binding free energy changes and binding hot spots

Science.gov (United States)

2014-01-01

Background Binding free energy and binding hot spots at protein-protein interfaces are two important research areas for understanding protein interactions. Computational methods have been developed previously for accurate prediction of binding free energy change upon mutation for interfacial residues. However, a large number of interrupted and unimportant atomic contacts are used in the training phase which caused accuracy loss. Results This work proposes a new method, βACV ASA , to predict the change of binding free energy after alanine mutations. βACV ASA integrates accessible surface area (ASA) and our newly defined β contacts together into an atomic contact vector (ACV). A β contact between two atoms is a direct contact without being interrupted by any other atom between them. A β contact’s potential contribution to protein binding is also supposed to be inversely proportional to its ASA to follow the water exclusion hypothesis of binding hot spots. Tested on a dataset of 396 alanine mutations, our method is found to be superior in classification performance to many other methods, including Robetta, FoldX, HotPOINT, an ACV method of β contacts without ASA integration, and ACV ASA methods (similar to βACV ASA but based on distance-cutoff contacts). Based on our data analysis and results, we can draw conclusions that: (i) our method is powerful in the prediction of binding free energy change after alanine mutation; (ii) β contacts are better than distance-cutoff contacts for modeling the well-organized protein-binding interfaces; (iii) β contacts usually are only a small fraction number of the distance-based contacts; and (iv) water exclusion is a necessary condition for a residue to become a binding hot spot. Conclusions βACV ASA is designed using the advantages of both β contacts and water exclusion. It is an excellent tool to predict binding free energy changes and binding hot spots after alanine mutation. PMID:24568581

A virus-binding hot spot on human angiotensin-converting enzyme 2 is critical for binding of two different coronaviruses.

Science.gov (United States)

Wu, Kailang; Chen, Lang; Peng, Guiqing; Zhou, Wenbo; Pennell, Christopher A; Mansky, Louis M; Geraghty, Robert J; Li, Fang

2011-06-01

How viruses evolve to select their receptor proteins for host cell entry is puzzling. We recently determined the crystal structures of NL63 coronavirus (NL63-CoV) and SARS coronavirus (SARS-CoV) receptor-binding domains (RBDs), each complexed with their common receptor, human angiotensin-converting enzyme 2 (hACE2), and proposed the existence of a virus-binding hot spot on hACE2. Here we investigated the function of this hypothetical hot spot using structure-guided biochemical and functional assays. The hot spot consists of a salt bridge surrounded by hydrophobic tunnel walls. Mutations that disturb the hot spot structure have significant effects on virus/receptor interactions, revealing critical energy contributions from the hot spot structure. The tunnel structure at the NL63-CoV/hACE2 interface is more compact than that at the SARS-CoV/hACE2 interface, and hence RBD/hACE2 binding affinities are decreased either by NL63-CoV mutations decreasing the tunnel space or by SARS-CoV mutations increasing the tunnel space. Furthermore, NL63-CoV RBD inhibits hACE2-dependent transduction by SARS-CoV spike protein, a successful application of the hot spot theory that has the potential to become a new antiviral strategy against SARS-CoV infections. These results suggest that the structural features of the hot spot on hACE2 were among the driving forces for the convergent evolution of NL63-CoV and SARS-CoV.

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

Energy Technology Data Exchange (ETDEWEB)

Passos-Bueno, M.R.; Takata, R.I.; Rapaport, D.; Bakker, E.; Kneppers, A.L.J.; Dunnen, J.T. den; Ommen, J.B. van

1992-11-01

In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations are clustered at two hot spots: 30% at the hot spot in the proximal part of the gene and about 70% at a more distal hot spot. Unexpectedly the authors observed a higher frequency of proximal gene rearrangements among proved germ line' mosaic cases. Of the 24 mosaic cases they are aware of, 19 (79%) have a proximal mutation, while only 5 (21%) have a distal mutation. This finding indicates that the mutations at the two hot spots in the dystrophin gene differ in origin. Independent support for the different mosaicism frequency was found by comparing the mutation spectra observed in isolated cases of DMD and familial cases (ratio 1:1). The authors conclude from these data that proximal deletions most likely occur early in embryonic development, causing them to have a higher chance of becoming familial, while distal deletions occur later and have a higher chance of causing only isolated cases. Finally, the findings have important consequences for the calculation of recurrence-risk estimates according to the site of the deletion: a [open quote]proximal[close quote] new mutant has an increased recurrence risk of approximately 30%, and a [open quote]distal[close quote] new mutant has a decreased recurrence risk of approximately 4%. 28 refs., 2 figs., 2 tabs.

IDH Mutation Analysis in Ewing Sarcoma Family Tumors

Directory of Open Access Journals (Sweden)

Ki Yong Na

2015-05-01

Full Text Available Background: Isocitrate dehydrogenase (IDH catalyzes the oxidative decarboxylation of isocitrate to yield α-ketoglutarate (α-KG with production of reduced nicotinamide adenine dinucleotide (NADH. Dysfunctional IDH leads to reduced production of α-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor α, causing cells to be prone to tumorigenesis. Methods: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs, using a pentose nucleic acid clamping method and direct sequencing. Results: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. Conclusions: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.

Mutational properties of amino acid residues: implications for evolvability of phosphorylatable residues

DEFF Research Database (Denmark)

Creixell, Pau; Schoof, Erwin M.; Tan, Chris Soon Heng

2012-01-01

in terms of their mutational activity. Moreover, we highlight the importance of the genetic code and physico-chemical properties of the amino acid residues as likely causes of these inequalities and uncover serine as a mutational hot spot. Finally, we explore the consequences that these different......; it is typically assumed that all amino acid residues are equally likely to mutate or to result from a mutation. Here, by reconstructing ancestral sequences and computing mutational probabilities for all the amino acid residues, we refute this assumption and show extensive inequalities between different residues...... mutational properties have on phosphorylation site evolution, showing that a higher degree of evolvability exists for phosphorylated threonine and, to a lesser extent, serine in comparison with tyrosine residues. As exemplified by the suppression of serine's mutational activity in phosphorylation sites, our...

Recurrent and founder mutations in the PMS2 gene.

Science.gov (United States)

Tomsic, J; Senter, L; Liyanarachchi, S; Clendenning, M; Vaughn, C P; Jenkins, M A; Hopper, J L; Young, J; Samowitz, W; de la Chapelle, A

2013-03-01

Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individuals not known to be related due to the mutation being either recurrent, arising multiple times de novo at hot spots for mutations, or of founder origin, having occurred once in an ancestor. Previously, we observed 36 distinct mutations in a sample of 61 independently ascertained Caucasian probands of mixed European background with PMS2 mutations. Eleven of these mutations were detected in more than one individual not known to be related and of these, six were detected more than twice. These six mutations accounted for 31 (51%) ostensibly unrelated probands. Here, we performed genotyping and haplotype analysis in four mutations observed in multiple probands and found two (c.137G>T and exon 10 deletion) to be founder mutations and one (c.903G>T) a probable founder. One (c.1A>G) could not be evaluated for founder mutation status. We discuss possible explanations for the frequent occurrence of founder mutations in PMS2. © 2012 John Wiley & Sons A/S.

Echinocandin failure case due to a yet unreported FKS mutation in Candida krusei

DEFF Research Database (Denmark)

Jensen, Rasmus Hare; Justesen, Ulrik Stenz; Rewes, Annika

Echinocandins are the preferred therapy for invasive infections due to Candida krusei. We present here a case of clinical failure involving C. krusei with a characteristic FKS1 hot spot mutation not previously reported in C. krusei that was isolated after 14 days of treatment. Anidulafungin MICs...... were elevated by ≥5 dilution steps above the clinical breakpoint but by only 1 step for a Candida albicans isolate harboring the corresponding mutation, suggesting a notable species-specific difference in the MIC increase conferred by this mutation....

Prediction of hot spot residues at protein-protein interfaces by combining machine learning and energy-based methods

Directory of Open Access Journals (Sweden)

Pontil Massimiliano

2009-10-01

Full Text Available Abstract Background Alanine scanning mutagenesis is a powerful experimental methodology for investigating the structural and energetic characteristics of protein complexes. Individual amino-acids are systematically mutated to alanine and changes in free energy of binding (ΔΔG measured. Several experiments have shown that protein-protein interactions are critically dependent on just a few residues ("hot spots" at the interface. Hot spots make a dominant contribution to the free energy of binding and if mutated they can disrupt the interaction. As mutagenesis studies require significant experimental efforts, there is a need for accurate and reliable computational methods. Such methods would also add to our understanding of the determinants of affinity and specificity in protein-protein recognition. Results We present a novel computational strategy to identify hot spot residues, given the structure of a complex. We consider the basic energetic terms that contribute to hot spot interactions, i.e. van der Waals potentials, solvation energy, hydrogen bonds and Coulomb electrostatics. We treat them as input features and use machine learning algorithms such as Support Vector Machines and Gaussian Processes to optimally combine and integrate them, based on a set of training examples of alanine mutations. We show that our approach is effective in predicting hot spots and it compares favourably to other available methods. In particular we find the best performances using Transductive Support Vector Machines, a semi-supervised learning scheme. When hot spots are defined as those residues for which ΔΔG ≥ 2 kcal/mol, our method achieves a precision and a recall respectively of 56% and 65%. Conclusion We have developed an hybrid scheme in which energy terms are used as input features of machine learning models. This strategy combines the strengths of machine learning and energy-based methods. Although so far these two types of approaches have mainly been

Echinocandin Failure Case Due to a Previously Unreported FKS1 Mutation in Candida krusei

DEFF Research Database (Denmark)

Jensen, Rasmus Hare; Justesen, Ulrik Stenz; Rewes, Annika

2014-01-01

Echinocandins are the preferred therapy for invasive infections due to Candida krusei. We present here a case of clinical failure involving C. krusei with a characteristic FKS1 hot spot mutation not previously reported in C. krusei that was isolated after 14 days of treatment. Anidulafungin MICs...... were elevated by ≥5 dilution steps above the clinical breakpoint but by only 1 step for a Candida albicans isolate harboring the corresponding mutation, suggesting a notable species-specific difference in the MIC increase conferred by this mutation....

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

Science.gov (United States)

Zouheir Habbal, Mohammad; Bou Assi, Tarek; Mansour, Hicham

2013-04-29

Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy diagnosed with Pompe disease and alkaptonuria. Urine organic acids and α-glucosidase were measured. Homogentisate 1,2-dioxygenase (HGO) and acid alpha-glucosidase (GAA) genes were sequenced by Sanger DNA sequencing. The level of α-glucosidase in white blood cells was markedly decreased (4 nm/mg) while the level of homogentisic acid was markedly increased (15 027 mmol/mol creatine). GAA sequencing detected two heterozygous GAA mutations (C.670C>T and C.1064T>C) while HGO sequencing revealed three polymorphisms in exons 4, 5 and 6, respectively. To the best of our knowledge, this is the first reported instance of Pompe disease and alkaptonuria occurring in the same individual.

Hot Deformation Behavior of Hot-Extruded AA7175 Through Hot Torsion Tests.

Science.gov (United States)

Lee, Se-Yeon; Jung, Taek-Kyun; Son, Hyeon-Woo; Kim, Sang-Wook; Son, Kwang-Tae; Choi, Ho-Joon; Oh, Sang-Ho; Lee, Ji-Woon; Hyun, Soong-Keun

2018-03-01

The hot deformation behavior of hot-extruded AA7175 was investigated with flow curves and processing maps through hot torsion tests. The flow curves and the deformed microstructures revealed that dynamic recrystallization (DRX) occurred in the hot-extruded AA7175 during hot working. The failure strain was highest at medium temperature. This was mainly influenced by the dynamic precipitation of fine rod-shaped MgZn2. The processing map determined the optimal deformation condition for the alloy during hot working.

Diverse growth hormone receptor gene mutations in Laron syndrome.

Science.gov (United States)

Berg, M A; Argente, J; Chernausek, S; Gracia, R; Guevara-Aguirre, J; Hopp, M; Pérez-Jurado, L; Rosenbloom, A; Toledo, S P; Francke, U

1993-01-01

To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-hormone insensitivity syndrome), we analyzed the growth-hormone receptor (GHR) genes of seven unrelated affected individuals from the United States, South America, Europe, and Africa. We amplified all nine GHR gene exons and splice junctions from these individuals by PCR and screened the products for mutations by using denaturing gradient gel electrophoresis (DGGE). We identified a single GHR gene fragment with abnormal DGGE results for each affected individual, sequenced this fragment, and, in each case, identified a mutation likely to cause Laron syndrome, including two nonsense mutations (R43X and R217X), two splice-junction mutations, (189-1 G to T and 71 + 1 G to A), and two frameshift mutations (46 del TT and 230 del TA or AT). Only one of these mutations, R43X, has been previously reported. Using haplotype analysis, we determined that this mutation, which involves a CpG dinucleotide hot spot, likely arose as a separate event in this case, relative to the two prior reports of R43X. Aside from R43X, the mutations we identified are unique to patients from particular geographic regions. Ten GHR gene mutations have now been described in this disorder. We conclude that Laron syndrome is caused by diverse GHR gene mutations, including deletions, RNA processing defects, translational stop codons, and missense codons. All the identified mutations involve the extracellular domain of the receptor, and most are unique to particular families or geographic areas. Images Figure 1 Figure 2 PMID:8488849

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Science.gov (United States)

Castella, Maria; Pujol, Roser; Callén, Elsa; Trujillo, Juan P; Casado, José A; Gille, Hans; Lach, Francis P; Auerbach, Arleen D; Schindler, Detlev; Benítez, Javier; Porto, Beatriz; Ferro, Teresa; Muñoz, Arturo; Sevilla, Julián; Madero, Luis; Cela, Elena; Beléndez, Cristina; de Heredia, Cristina Díaz; Olivé, Teresa; de Toledo, José Sánchez; Badell, Isabel; Torrent, Montserrat; Estella, Jesús; Dasí, Angeles; Rodríguez-Villa, Antonia; Gómez, Pedro; Barbot, José; Tapia, María; Molinés, Antonio; Figuera, Angela; Bueren, Juan A; Surrallés, Jordi

2011-04-07

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational "hot-spot" but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations.

c-Ha-ras BamHI RFLP in human urothelial tumors and point mutations in hot codons

International Nuclear Information System (INIS)

Weismanova, E; Skovraga, M.; Kaluz, S.

1993-01-01

High-molecular weights DNAs from 30 bladder and renal cell carcinomas (RCC) were isolated and the c-Ha-ras the c-Ha-ras gene BamHI RFLP was examined. Amplification of c-Ha-ras with normal localization with regard to the size of alleles was found only in the case. One of the normally localized c-Ha-ras allele termed RCC c-H-ras of a length of about 6.6 kbp was cloned and an oncogene-activating point mutation was identified using two restriction enzymes. After comparison of CfrI and Cfr10I cleavage maps of RCC c-Ha-ras to complete nucleotide sequences of EJ/T24 c-Ha-ras oncogene and its normal counterpart, a point mutation was identified within codon 11 or 12. The use of CfrI and Cfr10I is of value for clinical practice in identification of point mutations in c-Ha-ras PCR product in neoplasia accompanied by somatic mutation of c-Ha-ras. The correlation among c-Ha-ras allele, amplification/loss, presence of point mutation and progression of neoplasia is discussed. (author)

Structural and energetic hot-spots for the interaction between a ladder-like polycyclic ether and the anti-ciguatoxin antibody 10C9Fab.

Science.gov (United States)

Ui, Mihoko; Tanaka, Yoshikazu; Tsumuraya, Takeshi; Fujii, Ikuo; Inoue, Masayuki; Hirama, Masahiro; Tsumoto, Kouhei

2011-03-01

The mechanism by which anti-ciguatoxin antibody 10C9Fab recognizes a fragment of ciguatoxin CTX3C (CTX3C-ABCDE) was investigated by mutational analysis based on structural data. 10C9Fab has an extraordinarily large and deep antigen-binding pocket at the center of its variable region. We mutated several residues located at the antigen-binding pocket to Ala, and kinetic analysis of the interactions between the mutant proteins and the antigen fragment was performed. The results indicate that some residues associated with the rigid antigen-binding pocket are structural hot-spots and that L-N94 is an energetic hot-spot for association of the antibody with the antigen fragment CTX3C-ABCDE, suggesting the importance of structural complementarity and energetic hot-spot interactions for specific recognition of polycyclic ethers.

The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations

International Nuclear Information System (INIS)

Flores-Rozas, H.; Kolodner, R.D.

1998-01-01

The Saccharomyces cerevisiae genome encodes four MutL homologs. Of these, MLH1 and PMS1 are known to act in the MSH2-dependent pathway that repairs DNA mismatches. We have investigated the role of NLH3 in mismatch repair. Mutations in MLH3 increased the rate of reversion of the hom3-10 allele by increasing the rate of deletion of a single T in a run of 7 Ts. Combination of mutations in MLH3 and MSH6 caused a synergistic increase in the hom3-10 reversion rate, whereas the hom3-10 reversion rate in an mlh3 msh3 double mutant was the same as in the respective single mutants. Similar results were observed when the accumulation of mutations at frameshift hot spots in the LYS2 gene was analyzed, although mutation of MLH3 did not cause the same extent of affect at every LYS2 frameshift hot spot. MLH3 interacted with MLH1 in a two-hybrid system. These data are consistent with the idea that a proportion of the repair of specific insertion/deletion mispairs by the MSH3-dependent mismatch repair pathway uses a heterodimeric MLH1-MLH3 complex in place of the MLH1-PMS1 complex

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Science.gov (United States)

Legendre, Marine; Rodriguez-Ballesteros, Montserrat; Rossi, Massimiliano; Abadie, Véronique; Amiel, Jeanne; Revencu, Nicole; Blanchet, Patricia; Brioude, Frédéric; Delrue, Marie-Ange; Doubaj, Yassamine; Sefiani, Abdelaziz; Francannet, Christine; Holder-Espinasse, Muriel; Jouk, Pierre-Simon; Julia, Sophie; Melki, Judith; Mur, Sébastien; Naudion, Sophie; Fabre-Teste, Jennifer; Busa, Tiffany; Stamm, Stephen; Lyonnet, Stanislas; Attie-Bitach, Tania; Kitzis, Alain; Gilbert-Dussardier, Brigitte; Bilan, Frédéric

2018-02-01

CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in CHD7 IVS25. Combining computational in silico analysis, experimental branch-point determination and in vitro minigene assays, our study explains this mutation hot spot by a particular genomic context, including the weakness of the IVS25 natural acceptor-site and an unconventional lariat sequence localized outside the common 40 bp upstream the acceptor splice site. For each of the mutations reported here, bioinformatic tools indicated a newly created 3' splice site, of which the existence was confirmed using pSpliceExpress, an easy-to-use and reliable splicing reporter tool. Our study emphasizes the idea that combining these two complementary approaches could increase the efficiency of routine molecular diagnosis.

Distinct Rayleigh scattering from hot spot mutant p53 proteins reveals cancer cells.

Science.gov (United States)

Jun, Ho Joon; Nguyen, Anh H; Kim, Yeul Hong; Park, Kyong Hwa; Kim, Doyoun; Kim, Kyeong Kyu; Sim, Sang Jun

2014-07-23

The scattering of light redirects and resonances when an electromagnetic wave interacts with electrons orbits in the hot spot core protein and oscillated electron of the gold nanoparticles (AuNP). This report demonstrates convincingly that resonant Rayleigh scattering generated from hot spot mutant p53 proteins is correspondence to cancer cells. Hot spot mutants have unique local electron density changes that affect specificity of DNA binding affinity compared with wild types. Rayleigh scattering changes introduced by hot-spot mutations were monitored by localized surface plasmon resonance (LSPR) shift changes. The LSPR λmax shift for hot-spot mutants ranged from 1.7 to 4.2 nm for mouse samples and from 0.64 nm to 2.66 nm for human samples, compared to 9.6 nm and 15 nm for wild type and mouse and human proteins, respectively with a detection sensitivity of p53 concentration at 17.9 nM. It is interesting that hot-spot mutants, which affect only interaction with DNA, launches affinitive changes as considerable as wild types. These changes propose that hot-spot mutants p53 proteins can be easily detected by local electron density alterations that disturbs the specificity of DNA binding of p53 core domain on the surface of the DNA probed-nanoplasmonic sensor. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

The Red Queen model of recombination hot-spot evolution: a theoretical investigation.

Science.gov (United States)

Latrille, Thibault; Duret, Laurent; Lartillot, Nicolas

2017-12-19

In humans and many other species, recombination events cluster in narrow and short-lived hot spots distributed across the genome, whose location is determined by the Zn-finger protein PRDM9. To explain these fast evolutionary dynamics, an intra-genomic Red Queen model has been proposed, based on the interplay between two antagonistic forces: biased gene conversion, mediated by double-strand breaks, resulting in hot-spot extinction, followed by positive selection favouring new PRDM9 alleles recognizing new sequence motifs. Thus far, however, this Red Queen model has not been formalized as a quantitative population-genetic model, fully accounting for the intricate interplay between biased gene conversion, mutation, selection, demography and genetic diversity at the PRDM9 locus. Here, we explore the population genetics of the Red Queen model of recombination. A Wright-Fisher simulator was implemented, allowing exploration of the behaviour of the model (mean equilibrium recombination rate, diversity at the PRDM9 locus or turnover rate) as a function of the parameters (effective population size, mutation and erosion rates). In a second step, analytical results based on self-consistent mean-field approximations were derived, reproducing the scaling relations observed in the simulations. Empirical fit of the model to current data from the mouse suggests both a high mutation rate at PRDM9 and strong biased gene conversion on its targets.This article is part of the themed issue 'Evolutionary causes and consequences of recombination rate variation in sexual organisms'. © 2017 The Authors.

Solar 'hot spots' are still hot

Science.gov (United States)

Bai, Taeil

1990-01-01

Longitude distributions of solar flares are not random but show evidence for active zones (or hot spots) where flares are concentrated. According to a previous study, two hot spots in the northern hemisphere, which rotate with a synodic period of about 26.72 days, produced the majority of major flares, during solar cycles 20 and 21. The more prominent of these two hot spots is found to be still active during the rising part of cycle 22, producing the majority of northern hemisphere major flares. The synodic rotation period of this hot spot is 26.727 + or - 0.007 days. There is also evidence for hot spots in the southern hemisphere. Two hot spots separated by 180 deg are found to rotate with a period of 29.407 days, with one of them having persisted in the same locations during cycles 19-22 and the other, during cycles 20-22.

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

Directory of Open Access Journals (Sweden)

Haris Kokotas

2011-01-01

Full Text Available Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser(UCN, and the MTTL1 gene, encoding the tRNA for Leu(UUR. We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population.

Solar hot spots are still hot

International Nuclear Information System (INIS)

Bai, T.

1990-01-01

Longitude distributions of solar flares are not random but show evidence for active zones (or hot spots) where flares are concentrated. According to a previous study, two hot spots in the northern hemisphere, which rotate with a synodic period of about 26.72 days, produced the majority of major flares, during solar cycles 20 and 21. The more prominent of these two hot spots is found to be still active during the rising part of cycle 22, producing the majority of northern hemisphere major flares. The synodic rotation period of this hot spot is 26.727 + or - 0.007 days. There is also evidence for hot spots in the southern hemisphere. Two hot spots separated by 180 deg are found to rotate with a period of 29.407 days, with one of them having persisted in the same locations during cycles 19-22 and the other, during cycles 20-22. 14 refs

HOT 2015

DEFF Research Database (Denmark)

Hannibal, Sara Stefansen

2016-01-01

HOT samler og formidler 21 literacykyndiges bud på, hvad der er hot, og hvad der bør være hot inden for literacy – og deres begrundelser for disse bud.......HOT samler og formidler 21 literacykyndiges bud på, hvad der er hot, og hvad der bør være hot inden for literacy – og deres begrundelser for disse bud....

The Impact of ESR1 Mutations on the Treatment of Metastatic Breast Cancer.

Science.gov (United States)

Pejerrey, Sasha M; Dustin, Derek; Kim, Jin-Ah; Gu, Guowei; Rechoum, Yassine; Fuqua, Suzanne A W

2018-05-07

After nearly 20 years of research, it is now established that mutations within the estrogen receptor (ER) gene, ESR1, frequently occur in metastatic breast cancer and influence response to hormone therapy. Though early studies presented differing results, sensitive sequencing techniques now show that ESR1 mutations occur at a frequency between 20 and 40% depending on the assay method. Recent studies have focused on several "hot spot mutations," a cluster of mutations found in the hormone-binding domain of the ESR1 gene. Throughout the course of treatment, tumor evolution can occur, and ESR1 mutations emerge and become enriched in the metastatic setting. Sensitive techniques to continually monitor mutant burden in vivo are needed to effectively treat patients with mutant ESR1. The full impact of these mutations on tumor response to different therapies remains to be determined. However, recent studies indicate that mutant-bearing tumors may be less responsive to specific hormonal therapies, and suggest that aromatase inhibitor (AI) therapy may select for the emergence of ESR1 mutations. Additionally, different mutations may respond discretely to targeted therapies. The need for more preclinical mechanistic studies on ESR1 mutations and the development of better agents to target these mutations are urgently needed. In the future, sequential monitoring of ESR1 mutational status will likely direct personalized therapeutic regimens appropriate to each tumor's unique mutational landscape.

Prediction of protein interaction hot spots using rough set-based multiple criteria linear programming.

Science.gov (United States)

Chen, Ruoying; Zhang, Zhiwang; Wu, Di; Zhang, Peng; Zhang, Xinyang; Wang, Yong; Shi, Yong

2011-01-21

Protein-protein interactions are fundamentally important in many biological processes and it is in pressing need to understand the principles of protein-protein interactions. Mutagenesis studies have found that only a small fraction of surface residues, known as hot spots, are responsible for the physical binding in protein complexes. However, revealing hot spots by mutagenesis experiments are usually time consuming and expensive. In order to complement the experimental efforts, we propose a new computational approach in this paper to predict hot spots. Our method, Rough Set-based Multiple Criteria Linear Programming (RS-MCLP), integrates rough sets theory and multiple criteria linear programming to choose dominant features and computationally predict hot spots. Our approach is benchmarked by a dataset of 904 alanine-mutated residues and the results show that our RS-MCLP method performs better than other methods, e.g., MCLP, Decision Tree, Bayes Net, and the existing HotSprint database. In addition, we reveal several biological insights based on our analysis. We find that four features (the change of accessible surface area, percentage of the change of accessible surface area, size of a residue, and atomic contacts) are critical in predicting hot spots. Furthermore, we find that three residues (Tyr, Trp, and Phe) are abundant in hot spots through analyzing the distribution of amino acids. Copyright © 2010 Elsevier Ltd. All rights reserved.

HotRegion: a database of predicted hot spot clusters.

Science.gov (United States)

Cukuroglu, Engin; Gursoy, Attila; Keskin, Ozlem

2012-01-01

Hot spots are energetically important residues at protein interfaces and they are not randomly distributed across the interface but rather clustered. These clustered hot spots form hot regions. Hot regions are important for the stability of protein complexes, as well as providing specificity to binding sites. We propose a database called HotRegion, which provides the hot region information of the interfaces by using predicted hot spot residues, and structural properties of these interface residues such as pair potentials of interface residues, accessible surface area (ASA) and relative ASA values of interface residues of both monomer and complex forms of proteins. Also, the 3D visualization of the interface and interactions among hot spot residues are provided. HotRegion is accessible at http://prism.ccbb.ku.edu.tr/hotregion.

Semi-Supervised Transductive Hot Spot Predictor Working on Multiple Assumptions

KAUST Repository

Wang, Jim Jing-Yan

2014-05-23

Protein-protein interactions are critically dependent on just a few residues (“hot spots”) at the interfaces. Hot spots make a dominant contribution to the binding free energy and if mutated they can disrupt the interaction. As mutagenesis studies require significant experimental efforts, there exists a need for accurate and reliable computational hot spot prediction methods. Compared to the supervised hot spot prediction algorithms, the semi-supervised prediction methods can take into consideration both the labeled and unlabeled residues in the dataset during the prediction procedure. The transductive support vector machine has been utilized for this task and demonstrated a better prediction performance. To the best of our knowledge, however, none of the transductive semi-supervised algorithms takes all the three semisupervised assumptions, i.e., smoothness, cluster and manifold assumptions, together into account during learning. In this paper, we propose a novel semi-supervised method for hot spot residue prediction, by considering all the three semisupervised assumptions using nonlinear models. Our algorithm, IterPropMCS, works in an iterative manner. In each iteration, the algorithm first propagates the labels of the labeled residues to the unlabeled ones, along the shortest path between them on a graph, assuming that they lie on a nonlinear manifold. Then it selects the most confident residues as the labeled ones for the next iteration, according to the cluster and smoothness criteria, which is implemented by a nonlinear density estimator. Experiments on a benchmark dataset, using protein structure-based features, demonstrate that our approach is effective in predicting hot spots and compares favorably to other available methods. The results also show that our method outperforms the state-of-the-art transductive learning methods.

A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes

International Nuclear Information System (INIS)

Fumagalli, Debora; Gavin, Patrick G; Taniyama, Yusuke; Kim, Seung-Il; Choi, Hyun-Joo; Paik, Soonmyung; Pogue-Geile, Katherine L

2010-01-01

An increasing number of studies show that genetic markers can aid in refining prognostic information and predicting the benefit from systemic therapy. Our goal was to develop a high throughput, cost-effective and simple methodology for the detection of clinically relevant hot spot mutations in colon cancer. The Maldi-Tof mass spectrometry platform and OncoCarta panel from Sequenom were used to profile 239 colon cancers and 39 metastatic lymph nodes from NSABP clinical trial C-07 utilizing routinely processed FFPET (formalin-fixed paraffin-embedded tissue). Among the 238 common hot-spot cancer mutations in 19 genes interrogated by the OncoCarta panel, mutations were detected in 7 different genes at 26 different nucleotide positions in our colon cancer samples. Twenty-four assays that detected mutations in more than 1% of the samples were reconfigured into a new multiplexed panel, termed here as ColoCarta. Mutation profiling was repeated on 32 mutant samples using ColoCarta and the results were identical to results with OncoCarta, demonstrating that this methodology was reproducible. Further evidence demonstrating the validity of the data was the fact that the mutation frequencies of the most common colon cancer mutations were similar to the COSMIC (Catalog of Somatic Mutations in Cancer) database. The frequencies were 43.5% for KRAS, 20.1% for PIK3CA, and 12.1% for BRAF. In addition, infrequent mutations in NRAS, AKT1, ABL1, and MET were detected. Mutation profiling of metastatic lymph nodes and their corresponding primary tumors showed that they were 89.7% concordant. All mutations found in the lymph nodes were also found in the corresponding primary tumors, but in 4 cases a mutation was present in the primary tumor only. This study describes a high throughput technology that can be used to interrogate DNAs isolated from routinely processed FFPET and identifies the specific mutations that are common to colon cancer. The development of this technology and the Colo

Ras mutations are rare in solitary cold and toxic thyroid nodules.

Science.gov (United States)

Krohn, K; Reske, A; Ackermann, F; Müller, A; Paschke, R

2001-08-01

Activation of ras proto-oncogenes as a result of point mutations is detectable in a significant percentage of most types of tumour. Similar to neoplasms of other organs, mutations of all three ras genes can be found in thyroid tumours. H-, K- and N-ras mutations have been detected in up to 20% of follicular adenomas and adenomatous nodules which were not functionally characterized. This raises the question as to whether ras mutations are specific for hypofunctional nodules and TSH receptor mutations for hyperfunctioning nodules. To investigate ras and TSH receptor mutations with respect to functional differentiation we studied 41 scintigraphically cold nodules and 47 toxic thyroid nodules. To address the likelihood of a somatic mutation we also studied the clonal origin of these tumours. Genomic DNA was extracted from nodular and surrounding tissue. Mutational hot spots in exons 1 and 2 of the H- and K-ras gene were PCR amplified and sequenced using big dye terminator chemistry. Denaturing gradient gel electrophoresis (DGGE) was used to verify sequencing results for the H-ras gene and to analyse the N-ras gene because its greater sensitivity in detecting somatic mutations. Clonality of nodular thyroid tissue was evaluated using X-Chromosome inactivation based on PCR amplification of the human androgen receptor locus. Monoclonal origin was detectable in 14 of 23 informative samples from cold thyroid nodules. In toxic thyroid nodules the frequency of clonal tissue was 20 in 30 informative cases. Only one point mutation could be found in the N-ras gene codon 61 (Gly to Arg) in a cold adenomatous nodule which was monoclonal. In toxic thyroid nodules no ras mutation was detectable. Our study suggests that ras mutations are rare in solitary cold and toxic thyroid nodules and that the frequent monoclonal origin of these tumours implies somatic mutations in genes other than H-, K- and N-ras.

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

Directory of Open Access Journals (Sweden)

Chao Ling

Full Text Available Previous genetic studies on colorectal carcinomas (CRC have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways on populations of European ancestry. However, it is under-studied whether other populations harbor different sets of hot-spot somatic mutations in these pathways and other oncogenes. In this study, to evaluate the mutational spectrum of novel somatic mutations, we assessed 41 pairs of tumor-stroma tissues from Chinese patients with CRC, including 29 colon carcinomas and 12 rectal carcinomas. We designed Illumina Custom Amplicon panel to target 43 genes, including genes in the four candidate pathways, as well as several known oncogenes for other cancers. Candidate mutations were validated by Sanger sequencing, and we further used SIFT and PolyPhen-2 to assess potentially functional mutations. We discovered 3 new somatic mutations in gene APC, TCF7L2, and PIK3CA that had never been reported in the COSMIC or NCI-60 databases. Additionally, we confirmed 6 known somatic mutations in gene SMAD4, APC, FBXW7, BRAF and PTEN in Chinese CRC patients. While most were previously reported in CRC, one mutation in PTEN was reported only in malignant endometrium cancer. Our study confirmed the existence of known somatic mutations in the four candidate pathways for CRC in Chinese patients. We also discovered a number of novel somatic mutations in these pathways, which may have implications for the pathogenesis of CRC.

HOT 2012

DEFF Research Database (Denmark)

Lund, Henriette Romme

Undersøgelse af, hvad der er hot - og hvad der burde være hot på læseområdet med 21 læsekyndige. Undersøgelsen er gennemført siden 2010. HOT-undersøgelsen er foretaget af Nationalt Videncenter for Læsning - Professionshøjskolerne i samarb. med Dansklærerforeningen......Undersøgelse af, hvad der er hot - og hvad der burde være hot på læseområdet med 21 læsekyndige. Undersøgelsen er gennemført siden 2010. HOT-undersøgelsen er foretaget af Nationalt Videncenter for Læsning - Professionshøjskolerne i samarb. med Dansklærerforeningen...

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Science.gov (United States)

Kokotas, Haris; Grigoriadou, Maria; Villamar, Manuela; Giannoulia-Karantana, Aglaia; del Castillo, Ignacio; Petersen, Michael B

2010-04-01

One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the most frequent disease mutations identified so far. The debate was so far between the arguments whether or not the 35delG mutation constitutes a mutational hot-spot or a founder effect; however, it was recently clarified that the latter seems the most likely. In an attempt to explore the origin and propagation of the 35delG mutation, several groups have reported the prevalence of the mutation and the carrier rates in different populations worldwide. It is now certain that the theory of a common founder prevails and that the highest carrier frequencies of the 35delG mutation are observed in southern European populations, giving rise to a discussion regarding the origin of the 35delG mutation. In this study, we discuss data previously published by our and other groups and also compare the haplotype distribution of the mutation in southern Europe, trying to understand the pathways of science and history and the conflict between them.

High mitochondrial mutation rates estimated from deep-rooting Costa Rican pedigrees

Science.gov (United States)

Madrigal, Lorena; Melendez-Obando, Mauricio; Villegas-Palma, Ramon; Barrantes, Ramiro; Raventos, Henrieta; Pereira, Reynaldo; Luiselli, Donata; Pettener, Davide; Barbujani, Guido

2012-01-01

Estimates of mutation rates for the noncoding hypervariable Region I (HVR-I) of mitochondrial DNA (mtDNA) vary widely, depending on whether they are inferred from phylogenies (assuming that molecular evolution is clock-like) or directly from pedigrees. All pedigree-based studies so far were conducted on populations of European origin. In this paper we analyzed 19 deep-rooting pedigrees in a population of mixed origin in Costa Rica. We calculated two estimates of the HVR-I mutation rate, one considering all apparent mutations, and one disregarding changes at sites known to be mutational hot spots and eliminating genealogy branches which might be suspected to include errors, or unrecognized adoptions along the female lines. At the end of this procedure, we still observed a mutation rate equal to 1.24 × 10−6, per site per year, i.e., at least three-fold as high as estimates derived from phylogenies. Our results confirm that mutation rates observed in pedigrees are much higher than estimated assuming a neutral model of long-term HVRI evolution. We argue that, until the cause of these discrepancies will be fully understood, both lower estimates (i.e., those derived from phylogenetic comparisons) and higher, direct estimates such as those obtained in this study, should be considered when modeling evolutionary and demographic processes. PMID:22460349

Hot Flashes

Science.gov (United States)

Hot flashes Overview Hot flashes are sudden feelings of warmth, which are usually most intense over the face, neck and chest. Your skin might redden, as if you're blushing. Hot flashes can also cause sweating, and if you ...

Hot-spot analysis for drug discovery targeting protein-protein interactions.

Science.gov (United States)

Rosell, Mireia; Fernández-Recio, Juan

2018-04-01

Protein-protein interactions are important for biological processes and pathological situations, and are attractive targets for drug discovery. However, rational drug design targeting protein-protein interactions is still highly challenging. Hot-spot residues are seen as the best option to target such interactions, but their identification requires detailed structural and energetic characterization, which is only available for a tiny fraction of protein interactions. Areas covered: In this review, the authors cover a variety of computational methods that have been reported for the energetic analysis of protein-protein interfaces in search of hot-spots, and the structural modeling of protein-protein complexes by docking. This can help to rationalize the discovery of small-molecule inhibitors of protein-protein interfaces of therapeutic interest. Computational analysis and docking can help to locate the interface, molecular dynamics can be used to find suitable cavities, and hot-spot predictions can focus the search for inhibitors of protein-protein interactions. Expert opinion: A major difficulty for applying rational drug design methods to protein-protein interactions is that in the majority of cases the complex structure is not available. Fortunately, computational docking can complement experimental data. An interesting aspect to explore in the future is the integration of these strategies for targeting PPIs with large-scale mutational analysis.

HOT 2011

DEFF Research Database (Denmark)

Lund, Henriette Romme

En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager 21 læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet.......En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager 21 læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet....

Tritiated uracil, tritiated thymidine, and bromodeoxyuridine induced mutations in eucaryotic cells

International Nuclear Information System (INIS)

Burki, H.J.; Moustacchi, E.; Cleaver, J.E.

1979-02-01

The induction of gene conversion at the ARG-4 locus in strain BZ34 of Saccharomyces cerevisiae was examined after the cells incorporated y- 3 H uracil under optimum growth conditions for 16 hours, and then received damage at 4 0 C from tritium decays at very low dose rates of 1.4 to 27.6 tritium decays per hour. The results were compared to the results of gene conversion induced by 60 Co. The induction of resistance to 6TG in Chinese hamster ovary (CHO) cells has been studied after incorporation of 3 H-methyl thymidine, 6- 3 H-thymidine, and bromodeoxyuridine under several experimental conditions. The induction of mutations by incorporated 6- 3 H-thymidine is about three times as effective as the induction of mutations by tritiated-methyl thymidine. These results suggest that the determination of the RBE for tritium decays in model eucaryotic systems like yeast and cultured Chinese hamster cells will be influenced by the precise experimental conditions employed. In particular, experiments with mammalian cells will be affected by hot times for mutagenesis in the cell cycle and hot positions within the DNA in the nucleus, and also by the position of tritium decay within the DNA-incorporated molecule

Characterization of mutations causing rifampicin and isoniazid resistance of Mycobacterium tuberculosis in Syria.

Science.gov (United States)

Madania, Ammar; Habous, Maya; Zarzour, Hana; Ghoury, Ifad; Hebbo, Barea

2012-01-01

In order to characterize mutations causing rifampicin and isoniazid resistance of M. tuberculosis in Syria, 69 rifampicin resistant (Rif(r)) and 72 isoniazid resistant (Inh(r)) isolates were screened for point mutations in hot spots of the rpoB, katG and inhA genes by DNA sequencing and real time PCR. Of 69 Rif(r) isolates, 62 (90%) had mutations in the rifampin resistance determining region (RRDR) of the rpoB gene, with codons 531 (61%), 526 (13%), and 516 (8.7%) being the most commonly mutated. We found two new mutations (Asp516Thr and Ser531Gly) described for the first time in the rpoB-RRDR in association with rifampicin resistance. Only one mutation (Ile572Phe) was found outside the rpoB-RRDR. Of 72 Inh(r) strains, 30 (41.6%) had a mutation in katGcodon315 (with Ser315Thr being the predominant alteration), and 23 (32%) harbored the inhA(-15C-->T) mutation. While the general pattern of rpoB-RRDR and katG mutations reflected those found worldwide, the prevalence of the inhA(-15C-->T mutation was above the value found in most other countries, emphasizing the great importance of testing the inhA(-15C-->T) mutation for prediction of isoniazid resistance in Syria. Sensitivity of a rapid test using real time PCR and 3'-Minor groove binder (MGB) probes in detecting Rif(r) and Inh(r) isolates was 90% and 69.4%, respectively. This demonstrates that a small set of MGB-probes can be used in real time PCR in order to detect most mutations causing resistance to rifampicin and isoniazid.

An experimental study of BIGH3 gene mutations in the patients with corneal dystrophies

International Nuclear Information System (INIS)

Jin Tao; Zou Liuhe; Yang Ling

2004-01-01

Objective: To evaluate BIGH3 gene mutations in Chinese patents with corneal dystrophies. Methods: 2ml peripheral venous blood was collected from 15 patients with granular corneal dystrophies and 5 normal subjects. Leucocytes DNA was extracted with standard method. With two pairs of oligonucleotide primers, exon 4 and exon 12 of the BIGH3 gene were amplified using the polymerase chain reaction. Amplified DNA fragments were purified and sequenced directly. Results: Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. 12 patients with Avellino corneal dystrophy had the missense mutation R124H in the BIGH3 gene. 3 patients with granular corneal dystrophy had the missense mutation R555W in the BIGH3 gene. Conclusion: R124H and R555W mutations in BIGH3 gene were also found in the Chinese patients with Avellino and granular corneal dystrophies. In China, Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulted by BIGH3 gene mutions. Condon 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies. Molecular genetic analysis may be repuired for proper diagnosis and subclassification of corneal dystrophies. (authors)

Activating thyrotropin receptor mutations in histologically heterogeneous hyperfunctioning nodules of multinodular goiter.

Science.gov (United States)

Tonacchera, M; Vitti, P; Agretti, P; Giulianetti, B; Mazzi, B; Cavaliere, R; Ceccarini, G; Fiore, E; Viacava, P; Naccarato, A; Pinchera, A; Chiovato, L

1998-07-01

Activating thyrotropin (TSH) receptor mutations have been found in toxic adenomas and in hot nodules contained in toxic multinodular goiter. The typical feature of multinodular goiter is the heterogeneity in morphology and function of different follicles within the same enlarged gland. In this report we describe a patient with a huge multinodular goiter, normal free triiodothyronine (FT3) and free thyroxine (FT4) serum values, and subnormal TSH serum concentration. Thyroid scintiscan showed two hot areas corresponding to the basal and apical nodules of the left lobe. The right lobe was poorly visualized by the radioisotope. The patient underwent thyroidectomy, and histological examination of the tissue was performed. Genomic DNA was extracted from the tissue specimen and direct sequencing of the TSH receptor and Gs alpha genes was done. At histology, one hyperfunctioning nodule had the typical microscopic structure of thyroid adenomas, and the other contained multiple macrofollicular areas not confined by a capsule. In spite of this histological difference, both hyperfunctioning nodules harbored a mutation of the thyrotropin receptor (TSHr) gene: an isoleucine instead of a threonine in position 632 (T632I) in the first nodule and a methionine instead of an isoleucine in position 486 (I486M) in the second nodule. In conclusion, our findings show for the first time that gain-of-function TSHr mutations are not only present in hyperfunctioning thyroid nodules with the histological features of the true thyroid adenomas, but also in hyperfunctioning hyperplastic nodules contained in the same multinodular goiter.

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Science.gov (United States)

Caputo, Viviana; Cianetti, Luciano; Niceta, Marcello; Carta, Claudio; Ciolfi, Andrea; Bocchinfuso, Gianfranco; Carrani, Eugenio; Dentici, Maria Lisa; Biamino, Elisa; Belligni, Elga; Garavelli, Livia; Boccone, Loredana; Melis, Daniela; Andria, Generoso; Gelb, Bruce D.; Stella, Lorenzo; Silengo, Margherita; Dallapiccola, Bruno; Tartaglia, Marco

2012-01-01

Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Here, by performing exome sequencing of a single affected individual and coupling the results to a hypothesis-driven filtering strategy, we establish that heterozygous mutations in SMAD4, which encodes for a transducer mediating transforming growth factor β and bone morphogenetic protein signaling branches, underlie this rare Mendelian trait. Two recurrent de novo SMAD4 mutations were identified in eight unrelated subjects. Both mutations were missense changes altering Ile500 within the evolutionary conserved MAD homology 2 domain, a well known mutational hot spot in malignancies. Structural analyses suggest that the substituted residues are likely to perturb the binding properties of the mutant protein to signaling partners. Although SMAD4 has been established as a tumor suppressor gene somatically mutated in pancreatic, gastrointestinal, and skin cancers, and germline loss-of-function lesions and deletions of this gene have been documented to cause disorders that predispose individuals to gastrointestinal cancer and vascular dysplasias, the present report identifies a previously unrecognized class of mutations in the gene with profound impact on development and growth. PMID:22243968

HOT 2014

DEFF Research Database (Denmark)

Lund, Henriette

Undersøgelse af, hvad der er hot - og hvad der burde være hot på læseområdet med 21 læsekyndige. Undersøgelsen er gennemført siden 2010. HOT-undersøgelsen er foretaget af Nationalt Videncenter for Læsning - Professionshøjskolerne i samarb. med Dansklærerforeningen...

Non-hyperfunctioning nodules from multinodular goiters: a minor role in pathogenesis for somatic activating mutations in the TSH-receptor and Gsalpha subunit genes.

Science.gov (United States)

Derrien, C; Sonnet, E; Gicquel, I; Le Gall, J Y; Poirier, J Y; David, V; Maugendre, D

2001-05-01

Constitutive activation of the cAMP pathway stimulates thyrocyte proliferation. Gain-of-function mutations in Gsalpha protein have already been identified in thyroid nodules which have lost the ability to trap iodine. In contrast, most of the studies failed to detect somatic activating mutations in the thyrotropin receptor (TSH-R) in non-hyperfunctioning thyroid tumors. The aim of this study was to screen for mutations TSH-R exon 10, encoding the whole intracytoplasmic area involved in signal transduction, and Gsalpha exons 8 and 9, containing the two hot-spot codons 201 and 227, in a subset of non-hyperfunctioning nodules from multinodular goiter. Identified by matching ultrasonography and scintiscan, 22 eufunctioning (normal 99Tc uptake) and 15 nonfunctioning (decreased 99Tc uptake) nodules from 27 non-toxic multinodular goiters were isolated. After DNA extraction, TSH-R exon 10 was analyzed by direct sequencing of the PCR products and Gsalpha exons 8 and 9 by Denaturing Gradient Gel Electrophoresis. No mutation of TSH-R or Gsalpha was detected in the 37 nodules analyzed. This absence of mutation, despite the use of two sensitive screening methods associated with the analysis of the TSH-R whole intracytoplasmic area and Gsalpha two hot-spot codons, suggests that TSH-R and Gsalpha play a minor role in the pathogenesis of non-toxic nodules from multinodular goiters.

Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection.

Directory of Open Access Journals (Sweden)

Selda Aydin

Full Text Available In the Balkan and Taiwan, the relationship between exposure to aristolochic acid and risk of urothelial neoplasms was inferred from the A>T genetic hallmark in TP53 gene from malignant cells. This study aimed to characterize the TP53 mutational spectrum in urothelial cancers consecutive to Aristolochic Acid Nephropathy in Belgium. Serial frozen tumor sections from female patients (n=5 exposed to aristolochic acid during weight-loss regimen were alternatively used either for p53 immunostaining or laser microdissection. Tissue areas with at least 60% p53-positive nuclei were selected for microdissecting sections according to p53-positive matching areas. All areas appeared to be carcinoma in situ. After DNA extraction, mutations in the TP53 hot spot region (exons 5-8 were identified using nested-PCR and sequencing. False-negative controls consisted in microdissecting fresh-frozen tumor tissues both from a patient with a Li-Fraumeni syndrome who carried a p53 constitutional mutation, and from KRas mutated adenocarcinomas. To rule out false-positive results potentially generated by microdissection and nested-PCR, a phenacetin-associated urothelial carcinoma and normal fresh ureteral tissues (n=4 were processed with high laser power. No unexpected results being identified, molecular analysis was pursued on malignant tissues, showing at least one mutation in all (six different mutations in two patients, with 13/16 exonic (nonsense, 2; missense, 11 and 3/16 intronic (one splice site mutations. They were distributed as transitions (n=7 or transversions (n=9, with an equal prevalence of A>T and G>T (3/16 each. While current results are in line with A>T prevalence previously reported in Balkan and Taiwan studies, they also demonstrate that multiple mutations in the TP53 hot spot region and a high frequency of G>T transversion appear as a complementary signature reflecting the toxicity of a cumulative dose of aristolochic acid ingested over a short period

MUTATIONS OF THE SMARCB1 GENE IN HUMAN CANCERS

Directory of Open Access Journals (Sweden)

D. S. Mikhaylenko

2016-01-01

Full Text Available In the recent years, the full exome sequencing helped to reveal a  set of mutations in the genes that are not oncogenes or tumor suppressor genes by definition, but play an important role in carcinogenesis and encode proteins involved in chromatin remodeling. Among chromatin remodeling systems, which operate through the ATP-dependent mechanism, the complex SWI/ SNF attracts the great attention. The complex consists of the catalytic ATPase (SMARCA2/4, a group of conservative core subunits (SMARCB1, SMARCC1/2, and variant subunits. Abnormalities in the genes coding for each of these components have been identified as driver mutations in various human tumors. The SMARCB1 gene is of interest for practical oncogenetics, with its typical genotype-phenotype correlations. Germinal inactivating mutations (frameshift insertions/deletions, full deletions of the gene, nonsense mutations lead to development of rhabdoid tumors in the kidneys and the brain in children in their first years of life, or even in utero. These tumors are highly malignant (Rhabdoid Tumor Predisposition Syndrome 1 – RTPS1. If a mutation carrier survives his/hers four years of life without manifestation RTPS1 with a missense mutation or has the mutation in the "hot spot" of the first or the last exon, then he/she will not develop rhabdoid tumors, but after 20 years of life, shwannomatosis may develop as multiple benign tumors of peripheral nerves. Finally, some point mutations in the exons 8–9 can result in Coffin-Siris syndrome characterized by mental retardation and developmental disorders, but no neoplasms. In this regard, rational referral of patients for direct DNA diagnostics of each of the described disease entities plays an important role, based on respective minimal criteria, as well as necessity of further development of NGS technologies (full genome and full exome sequencing that are able to sequence not only individual exons, but all candidate genes of the

Age and sex effects on human mutation rates. An old problem with new complexities

International Nuclear Information System (INIS)

Crow, James F.

2006-01-01

Base substitution mutations are far more common in human males than in females, and the frequency increases with paternal age. Both can be accounted for by the greater number of pre-meiotic cell divisions in males, especially old ones. In contrast, small deletions do not show any important age effect and occur with approximately equal frequency in the two sexes. Mutations in most genes include both types, and the sex and paternal age effect depends on the proportion of the two types. A few traits, of which Apert Syndrome is best understood, are mutation hot spots with all the mutations occurring in one or two codons, usually at one nucleotide. They occur with very high frequency almost exclusively in males and the frequency increases rapidly with paternal age. It has been suggested that the mutant cells have a selective advantage in the male germ-line prior to meiosis. Evidence for this surprising, but important, hypothesis is discussed. A possible mechanism is the conversion of asymmetrical stem-cell divisions into symmetric ones. Some traits with complex etiology show a slight paternal age effect. There is also a short discussion of the high deleterious mutation rate and the role of sexual reproduction in reducing the consequent mutation load. (author)

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Science.gov (United States)

Nicolas, Gaël; Jacquin, Agnès; Thauvin-Robinet, Christel; Rovelet-Lecrux, Anne; Rouaud, Olivier; Pottier, Cyril; Aubriot-Lorton, Marie-Hélène; Rousseau, Stéphane; Wallon, David; Duvillard, Christian; Béjot, Yannick; Frébourg, Thierry; Giroud, Maurice; Campion, Dominique; Hannequin, Didier

2014-10-01

Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare. We report the case of a 20-year-old woman who presented laryngeal dystonia revealing IBGC. Her healthy parents' CT scans were both normal. We identified in the proband a new nonsense mutation in exon 4 of PDGFB, c.439C>T (p.Gln147*), which was absent from the parents' DNA. This mutation may result in a loss-of-function of PDGF-B, which has been shown to cause IBGC in humans and to disrupt the blood-brain barrier in mice, resulting in brain calcification. The c.439C>T mutation is located between two previously reported nonsense mutations, c.433C>T (p.Gln145*) and c.445C>T (p.Arg149*), on a region that could be a hot spot for de novo mutations. We present the first full demonstration of the de novo occurrence of an IBGC-causative mutation in a sporadic case.

HOT 2010

DEFF Research Database (Denmark)

Lund, Henriette Romme

En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager en række læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet. Undersøgelsen er gentaget hvert år siden 2010.......En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager en række læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet. Undersøgelsen er gentaget hvert år siden 2010....

HOT 2013

DEFF Research Database (Denmark)

Lund, Henriette Romme

En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager en række læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet. Undersøgelsen er gentaget hvert år siden 2010.......En undersøgelse af, hvad der er hot - og burde være hot på læseområdet. I undersøgelsen deltager en række læsekyndige fra praksisfeltet, professionshøjskolerne og forskningsområdet. Undersøgelsen er gentaget hvert år siden 2010....

Suppression of sawtooth oscillations due to hot electrons and hot ions

International Nuclear Information System (INIS)

Zhang, Y.Z.; Berk, H.L.

1989-01-01

The theory of m = 1 kink mode stabilization is discussed in the presence of either magnetically trapped hot electrons or hot ions. For instability hot ion requires particles peaked inside the q = 1 surface, while hot electrons require that its pressure profile be increasing at the q = 1 surface. Experimentally observed sawtooth stabilization usually occurs with off-axis heating with ECRH and near axis heating with ICRH. Such heating may produce the magnetically trapped hot particle pressure profiles that are consistent with theory. 17 refs., 2 figs

Theoretical prediction the removal of mercury from flue gas by MOFs

KAUST Repository

Liu, Yang; Li, Hailong; Liu, Jing

2016-01-01

Removal of mercury from flue gas has been considered as one of the hot topics in both the scientific and industrial world. Adsorption of elemental mercury (Hg) and oxidized mercury species (HgCl, HgO, and HgS) on a novel metal organic framework (MOF) material, named Mg/DOBDC, with unsaturated metal centers was investigated using density functional theory (DFT) calculations. The results show that Hg stably physi-sorbed on the unsaturated metal center (magnesium ion) of Mg/DOBDC with a binding energy (BE) of −27.5 kJ/mol. A direct interaction between Hg and magnesium ion was revealed by the partial density of state (PDOS) analysis. HgCl multi-interacts with two neighboring magnesium ions simultaneously by its Cl endings and thus resulted in strong adsorption strength (−89.0 kJ/mol). The adsorption energies of HgO and HgS on the Mg/DOBDC were as high as −117.0 kJ/mol and −169.7 kJ/mol, respectively, indicating a strong chemisorption. Theoretical calculations in this study reveal that Mg/DOBDC has the potential to serve as an efficient material for removal of mercury from flue gas.

Theoretical prediction the removal of mercury from flue gas by MOFs

KAUST Repository

Liu, Yang

2016-07-19

Removal of mercury from flue gas has been considered as one of the hot topics in both the scientific and industrial world. Adsorption of elemental mercury (Hg) and oxidized mercury species (HgCl, HgO, and HgS) on a novel metal organic framework (MOF) material, named Mg/DOBDC, with unsaturated metal centers was investigated using density functional theory (DFT) calculations. The results show that Hg stably physi-sorbed on the unsaturated metal center (magnesium ion) of Mg/DOBDC with a binding energy (BE) of −27.5 kJ/mol. A direct interaction between Hg and magnesium ion was revealed by the partial density of state (PDOS) analysis. HgCl multi-interacts with two neighboring magnesium ions simultaneously by its Cl endings and thus resulted in strong adsorption strength (−89.0 kJ/mol). The adsorption energies of HgO and HgS on the Mg/DOBDC were as high as −117.0 kJ/mol and −169.7 kJ/mol, respectively, indicating a strong chemisorption. Theoretical calculations in this study reveal that Mg/DOBDC has the potential to serve as an efficient material for removal of mercury from flue gas.

Mutation spectrum produced on PBR322 by 8-Methoxypsoralen plus UV-A light

International Nuclear Information System (INIS)

Bauluz, C.; Vidania, R.

1990-01-01

The mutagenic effect of 8-MOP+UVA (PUVA treatment) on pBR322 has been analysed by determining the frequency of mutation in the tet gene and identifying the type and position of the mutations produced inside a 276 pb-fragment (Bam-H1-SalI) of the same gene. pBR322 DNA was irradiated with UVA light in the presence of increasing concentrations of 8-Methoxypsoralen (8-MOP). The number of psoralen adducts formed in pBR322 upon that treatment ranged from 0 to 10.7 adducts per plasmid molecule. Modified DNA samples were used to transform several strains of E. Coli (differing in their repair capacities), both in constitutive conditions and after sos pre-induction by 254 nm-irradiation of cells. Mutation frequencies in the tet gene showed to increase in the wild type and uvrA strains along with the number of psoralen adducts per plasmid molecule; higher mutation frequencies were found in cells that had been previously irradiated to induce the SOS expression. Mutant plasmids were isolated from ApRTcS colonies and sequenced by the method of Maxam and Gilbert. Mutations appeared to be unique in most of the cases and were always punctual, i.e. affecting only to one base pair. The relative positions of the mutations showed a high frequency of coincidence among the sequenced fragments, indicating the existence of several DNA regions with high probability to mutated ('hot spots'). (author)

Co-Occurring Atomic Contacts for the Characterization of Protein Binding Hot Spots

Science.gov (United States)

Liu, Qian; Ren, Jing; Song, Jiangning; Li, Jinyan

2015-01-01

A binding hot spot is a small area at a protein-protein interface that can make significant contribution to binding free energy. This work investigates the substantial contribution made by some special co-occurring atomic contacts at a binding hot spot. A co-occurring atomic contact is a pair of atomic contacts that are close to each other with no more than three covalent-bond steps. We found that two kinds of co-occurring atomic contacts can play an important part in the accurate prediction of binding hot spot residues. One is the co-occurrence of two nearby hydrogen bonds. For example, mutations of any residue in a hydrogen bond network consisting of multiple co-occurring hydrogen bonds could disrupt the interaction considerably. The other kind of co-occurring atomic contact is the co-occurrence of a hydrophobic carbon contact and a contact between a hydrophobic carbon atom and a π ring. In fact, this co-occurrence signifies the collective effect of hydrophobic contacts. We also found that the B-factor measurements of several specific groups of amino acids are useful for the prediction of hot spots. Taking the B-factor, individual atomic contacts and the co-occurring contacts as features, we developed a new prediction method and thoroughly assessed its performance via cross-validation and independent dataset test. The results show that our method achieves higher prediction performance than well-known methods such as Robetta, FoldX and Hotpoint. We conclude that these contact descriptors, in particular the novel co-occurring atomic contacts, can be used to facilitate accurate and interpretable characterization of protein binding hot spots. PMID:26675422

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China

Directory of Open Access Journals (Sweden)

Yong-An Zhou

2012-01-01

Full Text Available The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH gene was investigated in 59 children with phenylketonuria (PKU and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%, followed by Ivs7 +2T>A (5.1% and T278I (2.5%. G247V, R252Q, L255S, R261Q and E280K accounted for 0.8% while Y356X and V399V accounted for 5.9% and 5.1%, respectively, in exon 11. R413P and A434D accounted for 5.9% and 2.5%, respectively, in exon 12. Seventy-two variant alleles accounted for the 16 mutations observed here. The mutation characteristics and distributions demonstrated that EX6-96A > G and R243Q were the hot regions for mutations in the PAH gene in Shanxi patients with PKU.

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

DEFF Research Database (Denmark)

Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

2004-01-01

OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

Simplifying the detection of MUTYH mutations by high resolution melting analysis

International Nuclear Information System (INIS)

López-Villar, Isabel; Martínez-López, Joaquín; Ayala, Rosa; Wesselink, Jan; Morillas, Juan Diego; López, Elena; Marín, José Carlos; Díaz-Tasende, José; González, Sara; Robles, Luis

2010-01-01

MUTYH-associated polyposis (MAP) is a disorder caused by bi-allelic germline MUTYH mutation, characterized by multiple colorectal adenomas. In order to identify mutations in MUTYH gene we applied High Resolution Melting (HRM) genotyping. HRM analysis is extensively employed as a scanning method for the detection of heterozygous mutations. Therefore, we applied HRM to show effectiveness in detecting homozygous mutations for these clinically important and frequent patients. In this study, we analyzed phenotype and genotype data from 82 patients, with multiple (>= 10) synchronous (19/82) or metachronous (63/82) adenomas and negative APC study (except one case). Analysis was performed by HRM-PCR and direct sequencing, in order to identify mutations in MUTYH exons 7, 12 and 13, where the most prevalent mutations are located. In monoallelic mutation carriers, we evaluated entire MUTYH gene in search of another possible alteration. HRM-PCR was performed with strict conditions in several rounds: the first one to discriminate the heteroduplex patterns and homoduplex patterns and the next ones, in order to refine and confirm parameters. The genotypes obtained were correlated to phenotypic features (number of adenomas (synchronous or metachronous), colorectal cancer (CRC) and family history). MUTYH germline mutations were found in 15.8% (13/82) of patients. The hot spots, Y179C (exon 7) and G396D (exon 13), were readily identified and other mutations were also detected. Each mutation had a reproducible melting profile by HRM, both heterozygous mutations and homozygous mutations. In our study of 82 patients, biallelic mutation is associated with being a carrier of ≥10 synchronous polyps (p = 0.05) and there is no association between biallelic mutation and CRC (p = 0.39) nor family history (p = 0.63). G338H non-pathogenic polymorphism (exon 12) was found in 23.1% (19/82) of patients. In all cases there was concordance between HRM (first and subsequent rounds) and sequencing

HOT STARS WITH HOT JUPITERS HAVE HIGH OBLIQUITIES

International Nuclear Information System (INIS)

Winn, Joshua N.; Albrecht, Simon; Fabrycky, Daniel; Johnson, John Asher

2010-01-01

We show that stars with transiting planets for which the stellar obliquity is large are preferentially hot (T eff > 6250 K). This could explain why small obliquities were observed in the earliest measurements, which focused on relatively cool stars drawn from Doppler surveys, as opposed to hotter stars that emerged more recently from transit surveys. The observed trend could be due to differences in planet formation and migration around stars of varying mass. Alternatively, we speculate that hot-Jupiter systems begin with a wide range of obliquities, but the photospheres of cool stars realign with the orbits due to tidal dissipation in their convective zones, while hot stars cannot realign because of their thinner convective zones. This in turn would suggest that hot Jupiters originate from few-body gravitational dynamics and that disk migration plays at most a supporting role.

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Directory of Open Access Journals (Sweden)

Pennarun Erwann

2008-05-01

Full Text Available Abstract Background The A3243G mutation in the tRNALeu gene (UUR, is one of the most common pathogenic mitochondrial DNA (mtDNA mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, we determined the haplogroup affiliation of 142 unrelated French patients – diagnosed as carriers of the A3243G mutation – by control-region sequencing and RFLP survey of their mtDNAs. Results The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that the 3243 site might be a mutational hot spot. However, contrary to previous findings, we observed a statistically significant underepresentation of the A3243G mutation on haplogroup J in patients (p = 0.01, OR = 0.26, C.I. 95%: 0.08–0.83, suggesting that might be due to a strong negative selection at the embryo or germ line stages. Conclusion Thus, our study supports the existence of mutational hotspot on mtDNA and a "haplogroup J paradox," a haplogroup that may increase the expression of mtDNA pathogenic mutations, but also be beneficial in certain environmental contexts.

3D nanoporous graphene films converted from liquid-crystalline holey graphene oxide for thin and high-performance supercapacitors

Science.gov (United States)

Wang, Bin; Liu, Jinzhang; Zhao, Yi; Zheng, Dezhi; Li, Yan; Sha, Jiangbo

2018-01-01

Holey graphene oxide (HGO) is prepared and its liquid crystal (LC) formation in water is investigated. The blade-coated LC-HGO hydrogel is hydrothermally reduced to form 3D nanoporous films used as supercapacitor electrodes. Holey graphene sheets are rumpled and interconnected to form a cellular structure with pore size around 100 nm during the reduction process. Reduced HGO films with different thicknesses are integrated into solid-state symmetric supercapacitors and their electrochemical performances are studied. High specific capacitance up to 304 F g-1 and high volumetric capacitance around 400 F cm-3 are achieved from our thin and flexible devices.

Extrusion-Based 3D Printing of Hierarchically Porous Advanced Battery Electrodes.

Science.gov (United States)

Lacey, Steven D; Kirsch, Dylan J; Li, Yiju; Morgenstern, Joseph T; Zarket, Brady C; Yao, Yonggang; Dai, Jiaqi; Garcia, Laurence Q; Liu, Boyang; Gao, Tingting; Xu, Shaomao; Raghavan, Srinivasa R; Connell, John W; Lin, Yi; Hu, Liangbing

2018-03-01

A highly porous 2D nanomaterial, holey graphene oxide (hGO), is synthesized directly from holey graphene powder and employed to create an aqueous 3D printable ink without the use of additives or binders. Stable dispersions of hydrophilic hGO sheets in water (≈100 mg mL -1 ) can be readily achieved. The shear-thinning behavior of the aqueous hGO ink enables extrusion-based printing of fine filaments into complex 3D architectures, such as stacked mesh structures, on arbitrary substrates. The freestanding 3D printed hGO meshes exhibit trimodal porosity: nanoscale (4-25 nm through-holes on hGO sheets), microscale (tens of micrometer-sized pores introduced by lyophilization), and macroscale (benefit of (nano)porosity and structurally conscious designs, the additive-free architectures are demonstrated as the first 3D printed lithium-oxygen (Li-O 2 ) cathodes and characterized alongside 3D printed GO-based materials without nanoporosity as well as nanoporous 2D vacuum filtrated films. The results indicate the synergistic effect between 2D nanomaterials, hierarchical porosity, and overall structural design, as well as the promise of a freeform generation of high-energy-density battery systems. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Amino acid 489 is encoded by a mutational "hot spot" on the beta 3 integrin chain: the CA/TU human platelet alloantigen system.

Science.gov (United States)

Wang, R; McFarland, J G; Kekomaki, R; Newman, P J

1993-12-01

A new platelet alloantigen, termed CA, has recently been implicated in a case of neonatal alloimmune thrombocytopenia (NATP) in a Filipino family in Canada. Maternal anti-CA serum reacted with glycoprotein (GP) IIIa and maintained its reactivity after removal of high mannose carbohydrate residues from GPIIIa. The monoclonal antibody (MoAb) AP3 partially blocked binding of anti-CA to GPIIIa, suggesting that the CA polymorphism is proximal to the AP3 epitope. Platelet RNA polymerase chain reaction (PCR) was used to amplify the region of GPIIIa cDNA that encodes this region of the protein. DNA sequence analysis showed a GA nucleotide substitution at base 1564 that results in an arginine (Arg) (CGG)glutamine (Gln) (CAG) polymorphism in amino acid (AA) 489. Further analysis of PCR-amplified genomic DNA from 27 normal individuals showed that AA 489 is encoded by a mutational "hot spot" of the GPIIIa gene, as three different codons for the wild-type Arg489 of GPIIIa were also found. The codon usage for Arg489 was found to be: CGG (63%), CGA (37%), and CGC (Definition of these new molecular variants of the beta 3 integrin chain should prove valuable in the diagnosis of NATP in these two geographically disparate populations, and it may also provide useful genetic markers for examining other pathologic variations of the GPIIb-IIIa complex.

Breakout character of islet amyloid polypeptide hydrophobic mutations at the onset of type-2 diabetes

Science.gov (United States)

Frigori, Rafael B.

2014-11-01

Toxic fibrillar aggregates of islet amyloid polypeptide (IAPP) appear as the physical outcome of a peptidic phase transition signaling the onset of type-2 diabetes mellitus in different mammalian species. In particular, experimentally verified mutations on the amyloidogenic segment 20-29 in humans, cats, and rats are highly correlated with the molecular aggregation propensities. Through a microcanonical analysis of the aggregation of IAPP20 -29 isoforms, we show that a minimalist one-bead hydrophobic-polar continuum model for protein interactions properly quantifies those propensities from free-energy barriers. Our results highlight the central role of sequence-dependent hydrophobic mutations on hot spots for stabilization, and thus for the engineering, of such biological peptides.

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Directory of Open Access Journals (Sweden)

Nadia Tinto

Full Text Available BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK. METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations in the protein were analyzed by molecular modeling. The patients' biochemical, clinical and anamnestic data were obtained. Mutations were detected in 16/30 patients (53%; 9 of the 12 mutations identified were novel (p.Glu70Asp, p.Phe123Leu, p.Asp132Asn, p.His137Asp, p.Gly162Asp, p.Thr168Ala, p.Arg392Ser, p.Glu290X, p.Gln106_Met107delinsLeu and are in regions involved in structural rearrangements required for catalysis. The prevalence of mutation sites was higher in the small domain (7/12: approximately 59% than in the large (4/12: 33% domain or in the connection (1/12: 8% region of the protein. Mild diabetic phenotypes were detected in almost all patients [mean (SD OGTT = 7.8 mMol/L (1.8] and mean triglyceride levels were lower in mutated than in unmutated GCK patients (p = 0.04. CONCLUSIONS: The prevalence of GCK MODY is high in southern Italy, and the GCK small domain is a hot spot for MODY mutations. Both the severity of the GCK mutation and the genetic background seem to play a relevant role in the GCK MODY phenotype. Indeed, a partial genotype-phenotype correlation was identified in related patients (3 pairs of siblings but not in two unrelated children bearing the same mutation. Thus, the molecular approach allows the physician to confirm the diagnosis and to predict severity of the mutation.

Molecular nature of X-ray-induced mutations compared with that of spontaneous ones in human c-hprt gene integrated into mammalian chromosomal DNA

International Nuclear Information System (INIS)

Kimura, Hiroshi; Kato, Takesi.

1992-01-01

X-ray-induced mutations were analysed at molecular levels in comparison with spontaneous mutations. Altered sequences were determined tentatively of 30 independent X-ray-induced mutations in a cDNA of the human hprt gene which was integrated into mammalian chromosome as a part of a shuttle vector. Mutations consisted of base substitutions (37 %), frameshifts (27 %), deletions (27 %) and others (10 %). All these mutational events were distributed randomly over the gene without there being hot spots. The spectrum and distribution of X-ray-induced mutations resembled those of spontaneous mutations. Among base substitutions, transversions were predominant and base substitution mutations occurred more at A:T sites than at G:C sites, which is also the case in spontaneous mutations. Most of the frameshift and deletion mutations induced by X-rays, as well as those spontaneously arising, were characterized by the existence of short direct repeats of several identical bases in a row at the sites of the mutations. A slippage misalignment mechanism in replication well accounts for the generation of these classes of mutations. Judging from the data accumulated so far, it can be concluded that X-ray-induced mutations at molecular levels are similar to those spontaneously occurring. (author)

DBAC: A simple prediction method for protein binding hot spots based on burial levels and deeply buried atomic contacts

Science.gov (United States)

2011-01-01

Background A protein binding hot spot is a cluster of residues in the interface that are energetically important for the binding of the protein with its interaction partner. Identifying protein binding hot spots can give useful information to protein engineering and drug design, and can also deepen our understanding of protein-protein interaction. These residues are usually buried inside the interface with very low solvent accessible surface area (SASA). Thus SASA is widely used as an outstanding feature in hot spot prediction by many computational methods. However, SASA is not capable of distinguishing slightly buried residues, of which most are non hot spots, and deeply buried ones that are usually inside a hot spot. Results We propose a new descriptor called “burial level” for characterizing residues, atoms and atomic contacts. Specifically, burial level captures the depth the residues are buried. We identify different kinds of deeply buried atomic contacts (DBAC) at different burial levels that are directly broken in alanine substitution. We use their numbers as input for SVM to classify between hot spot or non hot spot residues. We achieve F measure of 0.6237 under the leave-one-out cross-validation on a data set containing 258 mutations. This performance is better than other computational methods. Conclusions Our results show that hot spot residues tend to be deeply buried in the interface, not just having a low SASA value. This indicates that a high burial level is not only a necessary but also a more sufficient condition than a low SASA for a residue to be a hot spot residue. We find that those deeply buried atoms become increasingly more important when their burial levels rise up. This work also confirms the contribution of deeply buried interfacial atomic contacts to the energy of protein binding hot spot. PMID:21689480

Rooting, growth, and color mutation of poinsettias affected by gamma radiation

International Nuclear Information System (INIS)

Lee, Eun Kyung; Kim, Won Hee; Kim, Seung Tae; Kang, Si Yong

2010-01-01

This experiment was carried out to investigate the effects of gamma-radiation on the rooting, growth, and color mutation in poinsettia. Using 10 poinsettia varieties ('Lollipop', 'Little Peace', 'Happy Day', 'Early Bird', 'Pixy Red', 'Happy Time', 'Heidi', 'Red Bell', 'Clara', and 'Scarlet') bred by National Institute of Horticultural and Herbal Science, 100 Gy of gamma ray was irradiated at the stage of callused cuttings. Four weeks after sticking cuttings in the rooting media, 8 cultivars showed 100% of root formation, but 'Early Bird' rooted 24.4% and even died off during the cutting propagation. After planting rooted cuttings, survival rate until flowering time varied among irradiated cultivars. While 'Pixy Red' and 'Heidi' survived about 98%, 'Clara', 'Happy Day', and 'Early Bird' survived lesser than 30%. All irradiated plants showed remarkably shorter plant height, lesser branch numbers than non-irradiated control plants. Thirty color mutants were obtained among 281 plants survived until flowering time. Nine were complete color mutated branches, whereas 21 mutants were partially color mutated bracts and transitional leaves. Color patterns mutated by 100 Gy of gamma ray were divided into pink, hot pink, light red and spotted (pink spots with red main color). Pink mutants were commonly obtained. Complete color mutants were discovered from 4 plants of 'Pixy Red', 2 plants of 'Red Bell' and 3 plants of Lollipop

THE EFFECT OF WATER (VAPOR-PHASE) AND CARBON ON ELEMENTAL MERCURY REMOVAL IN A FLOW REACTOR

Science.gov (United States)

The paper gives results of studying the effect of vapor-phase moisture on elemental mercury (Hgo) removal by activated carbon (AC) in a flow reactor. tests involved injecting AC into both a dry and a 4% moisture nitrogen (N2) /Hgo gas stream. A bituminous-coal-based AC (Calgon WP...

A novel fully automated molecular diagnostic system (AMDS for colorectal cancer mutation detection.

Directory of Open Access Journals (Sweden)

Shiro Kitano

Full Text Available BACKGROUND: KRAS, BRAF and PIK3CA mutations are frequently observed in colorectal cancer (CRC. In particular, KRAS mutations are strong predictors for clinical outcomes of EGFR-targeted treatments such as cetuximab and panitumumab in metastatic colorectal cancer (mCRC. For mutation analysis, the current methods are time-consuming, and not readily available to all oncologists and pathologists. We have developed a novel, simple, sensitive and fully automated molecular diagnostic system (AMDS for point of care testing (POCT. Here we report the results of a comparison study between AMDS and direct sequencing (DS in the detection of KRAS, BRAF and PI3KCA somatic mutations. METHODOLOGY/PRINCIPAL FINDING: DNA was extracted from a slice of either frozen (n = 89 or formalin-fixed and paraffin-embedded (FFPE CRC tissue (n = 70, and then used for mutation analysis by AMDS and DS. All mutations (n = 41 among frozen and 27 among FFPE samples detected by DS were also successfully (100% detected by the AMDS. However, 8 frozen and 6 FFPE samples detected as wild-type in the DS analysis were shown as mutants in the AMDS analysis. By cloning-sequencing assays, these discordant samples were confirmed as true mutants. One sample had simultaneous "hot spot" mutations of KRAS and PIK3CA, and cloning assay comfirmed that E542K and E545K were not on the same allele. Genotyping call rates for DS were 100.0% (89/89 and 74.3% (52/70 in frozen and FFPE samples, respectively, for the first attempt; whereas that of AMDS was 100.0% for both sample sets. For automated DNA extraction and mutation detection by AMDS, frozen tissues (n = 41 were successfully detected all mutations within 70 minutes. CONCLUSIONS/SIGNIFICANCE: AMDS has superior sensitivity and accuracy over DS, and is much easier to execute than conventional labor intensive manual mutation analysis. AMDS has great potential for POCT equipment for mutation analysis.

FKS2 Mutations Associated with Decreased Echinocandin Susceptibility of Candida glabrata following Anidulafungin Therapy

OpenAIRE

Costa-de-Oliveira, Sofia; Miranda, Isabel Marcos; Silva, Raquel M.; Pinto e Silva, Ana; Rocha, Rita; Amorim, Antonio; Rodrigues, Acacio Goncalves; Pina-Vaz, Cidalia

2011-01-01

This is the first case report of Candida glabrata-disseminated candidiasis describing the acquisition of echinocandin resistance following anidulafungin treatment. The initial isolates recovered were susceptible to echinocandins. However, during 27 days of anidulafungin treatment, two resistant strains were isolated (from the blood and peritoneal fluid). The resistant peritoneal fluid isolate exhibited a Ser663Pro mutation in position 1987 of FKS2 HS1 (hot spot 1), whereas the resistant blood...

Mutations in PIK3CA are infrequent in neuroblastoma

International Nuclear Information System (INIS)

Dam, Vincent; Morgan, Brian T; Mazanek, Pavel; Hogarty, Michael D

2006-01-01

Neuroblastoma is a frequently lethal pediatric cancer in which MYCN genomic amplification is highly correlated with aggressive disease. Deregulated MYC genes require co-operative lesions to foster tumourigenesis and both direct and indirect evidence support activated Ras signaling for this purpose in many cancers. Yet Ras genes and Braf, while often activated in cancer cells, are infrequent targets for activation in neuroblastoma. Recently, the Ras effector PIK3CA was shown to be activated in diverse human cancers. We therefore assessed PIK3CA for mutation in human neuroblastomas, as well as in neuroblastomas arising in transgenic mice with MYCN overexpressed in neural-crest tissues. In this murine model we additionally surveyed for Ras family and Braf mutations as these have not been previously reported. Sixty-nine human neuroblastomas (42 primary tumors and 27 cell lines) were sequenced for PIK3CA activating mutations within the C2, helical and kinase domain 'hot spots' where 80% of mutations cluster. Constitutional DNA was sequenced in cases with confirmed alterations to assess for germline or somatic acquisition. Additionally, Ras family members (Hras1, Kras2 and Nras) and the downstream effectors Pik3ca and Braf, were sequenced from twenty-five neuroblastomas arising in neuroblastoma-prone transgenic mice. We identified mutations in the PIK3CA gene in 2 of 69 human neuroblastomas (2.9%). Neither mutation (R524M and E982D) has been studied to date for effects on lipid kinase activity. Though both occurred in tumors with MYCN amplification the overall rate of PIK3CA mutations in MYCN amplified and single-copy tumors did not differ appreciably (2 of 31 versus 0 of 38, respectively). Further, no activating mutations were identified in a survey of Ras signal transduction genes (including Hras1, Kras2, Nras, Pik3ca, or Braf genes) in twenty-five neuroblastic tumors arising in the MYCN-initiated transgenic mouse model. These data suggest that activating

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Science.gov (United States)

Martinelli, Simone; De Luca, Alessandro; Stellacci, Emilia; Rossi, Cesare; Checquolo, Saula; Lepri, Francesca; Caputo, Viviana; Silvano, Marianna; Buscherini, Francesco; Consoli, Federica; Ferrara, Grazia; Digilio, Maria C.; Cavaliere, Maria L.; van Hagen, Johanna M.; Zampino, Giuseppe; van der Burgt, Ineke; Ferrero, Giovanni B.; Mazzanti, Laura; Screpanti, Isabella; Yntema, Helger G.; Nillesen, Willy M.; Savarirayan, Ravi; Zenker, Martin; Dallapiccola, Bruno; Gelb, Bruce D.; Tartaglia, Marco

2010-01-01

RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes. Although enhanced flow through this pathway has been established as a major contributor to oncogenesis, recent discoveries have revealed that aberrant RAS activation causes a group of clinically related developmental disorders characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, ectodermal and musculoskeletal anomalies, and increased risk for certain malignancies. Here, we report that heterozygous germline mutations in CBL, a tumor-suppressor gene that is mutated in myeloid malignancies and encodes a multivalent adaptor protein with E3 ubiquitin ligase activity, can underlie a phenotype with clinical features fitting or partially overlapping Noonan syndrome (NS), the most common condition of this disease family. Independent CBL mutations were identified in two sporadic cases and two families from among 365 unrelated subjects who had NS or suggestive features and were negative for mutations in previously identified disease genes. Phenotypic heterogeneity and variable expressivity were documented. Mutations were missense changes altering evolutionarily conserved residues located in the RING finger domain or the linker connecting this domain to the N-terminal tyrosine kinase binding domain, a known mutational hot spot in myeloid malignancies. Mutations were shown to affect CBL-mediated receptor ubiquitylation and dysregulate signal flow through RAS. These findings document that germline mutations in CBL alter development to cause a clinically variable condition that resembles NS and that possibly predisposes to malignancies. PMID:20619386

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

International Nuclear Information System (INIS)

Soria, L.F.; Ludwig, E.H.; Clarke, H.R.G.; McCarthy, B.J.; Vega, G.L.; Grundy, S.M.

1989-01-01

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 apoB,E(LDL) receptor. The disorder appears to result from a mutation in the gene for apoB-100. Extensive sequence analysis of the two alleles of one subject heterozygous for the disorder has revealed a previously unreported mutation in the codon for amino acid 3500 that results in the substitution of glutamine for arginine. This same mutant allele occurs in six other, unrelated subjects and in eight affected relatives in two of these families. A partial haplotype of this mutant apoB-100 allele was constructed by sequence analysis and restriction enzyme digestion at positions where variations in the apoB-100 are known to occur. This haplotype is the same in three probands and four affected members of one family and lacks a polymorphic Xba I site whose presence has been correlated with high cholesterol levels. Thus, it appears that the mutation in the codon for amino acid 3500 (CGG → CAG), a CG mutational hot spot, defines a minor apoB-100 allele associated with defective low density lipoproteins and hypercholesterolemia

Hot Surface Ignition

OpenAIRE

Tursyn, Yerbatyr; Goyal, Vikrant; Benhidjeb-Carayon, Alicia; Simmons, Richard; Meyer, Scott; Gore, Jay P.

2015-01-01

Undesirable hot surface ignition of flammable liquids is one of the hazards in ground and air transportation vehicles, which primarily occurs in the engine compartment. In order to evaluate the safety and sustainability of candidate replacement fuels with respect to hot surface ignition, a baseline low lead fuel (Avgas 100 LL) and four experimental unleaded aviation fuels recommended for reciprocating aviation engines were considered. In addition, hot surface ignition properties of the gas tu...

Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.

Science.gov (United States)

Yuan, Junhui; Higuchi, Yujiro; Nagado, Tatsui; Nozuma, Satoshi; Nakamura, Tomonori; Matsuura, Eiji; Hashiguchi, Akihiro; Sakiyama, Yusuke; Yoshimura, Akiko; Takashima, Hiroshi

2013-03-01

DNMT1, encoding DNA methyltransferase 1 (Dnmt1), is a critical enzyme which is mainly responsible for conversion of unmethylated DNA into hemimethylated DNA. To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21. We report a sporadic case in a Japanese patient with loss of pain and vibration sense, chronic osteomyelitis, autonomic system dysfunctions, hearing loss, and mild dementia, but without definite cerebellar ataxia. Electrophysiological studies revealed absent sensory nerve action potential with nearly normal motor nerve conduction studies. Brain magnetic resonance imaging revealed mild diffuse cerebral and cerebellar atrophy. Using a next-generation sequencing system, 16 candidate genes were analyzed and a novel missense mutation, c.1706A>G (p.His569Arg), was identified in exon 21 of DNMT1. Our findings suggest that mutation in exon 21 of DNMT1 may also produce a HSAN phenotype. Because all reported mutations of DNMT1 are concentrated in exons 20 and 21, which encode the replication focus targeting sequence (RFTS) domain of Dnmt1, the RFTS domain could be a mutation hot spot. © 2013 Peripheral Nerve Society.

Disaggregating Hot Water Use and Predicting Hot Water Waste in Five Test Homes

Energy Technology Data Exchange (ETDEWEB)

Henderson, H.; Wade, J.

2014-04-01

While it is important to make the equipment (or 'plant') in a residential hot water system more efficient, the hot water distribution system also affects overall system performance and energy use. Energy wasted in heating water that is not used is estimated to be on the order of 10 to 30 percent of total domestic hot water (DHW) energy use. This field monitoring project installed temperature sensors on the distribution piping (on trunks and near fixtures) and programmed a data logger to collect data at 5 second intervals whenever there was a hot water draw. This data was used to assign hot water draws to specific end uses in the home as well as to determine the portion of each hot water that was deemed useful (i.e., above a temperature threshold at the fixture). Five houses near Syracuse NY were monitored. Overall, the procedures to assign water draws to each end use were able to successfully assign about 50% of the water draws, but these assigned draws accounted for about 95% of the total hot water use in each home. The amount of hot water deemed as useful ranged from low of 75% at one house to a high of 91% in another. At three of the houses, new water heaters and distribution improvements were implemented during the monitoring period and the impact of these improvements on hot water use and delivery efficiency were evaluated.

Disaggregating Hot Water Use and Predicting Hot Water Waste in Five Test Homes

Energy Technology Data Exchange (ETDEWEB)

Henderson, Hugh [ARIES Collaborative, New York, NY (United States); Wade, Jeremy [ARIES Collaborative, New York, NY (United States)

2014-04-01

While it is important to make the equipment (or "plant") in a residential hot water system more efficient, the hot water distribution system also affects overall system performance and energy use. Energy wasted in heating water that is not used is estimated to be on the order of 10%-30% of total domestic hot water (DHW) energy use. This field monitoring project installed temperature sensors on the distribution piping (on trunks and near fixtures) in five houses near Syracuse, NY, and programmed a data logger to collect data at 5 second intervals whenever there was a hot water draw. This data was used to assign hot water draws to specific end uses in the home as well as to determine the portion of each hot water that was deemed useful (i.e., above a temperature threshold at the fixture). Overall, the procedures to assign water draws to each end use were able to successfully assign about 50% of the water draws, but these assigned draws accounted for about 95% of the total hot water use in each home. The amount of hot water deemed as useful ranged from low of 75% at one house to a high of 91% in another. At three of the houses, new water heaters and distribution improvements were implemented during the monitoring period and the impact of these improvements on hot water use and delivery efficiency were evaluated.

The natural history of thyroid autonomy and hot nodules.

Science.gov (United States)

Corvilain, B

2003-02-01

Solitary hyperfunctioning thyroid adenomas are benign monoclonal tumors characterized by their capacity to grow and produce thyroxine (T4) and triiodothyronine (T3) autonomously, i.e. in the absence of thyrotropin (TSH). Mutations of the TSH receptor (TSH-R) have been found in the majority of solitary hyperfunctioning thyroid adenomas. On radioisotope scanning they generally appear as hot nodules because they concentrate radioiodide or 99mTc pertechnate, whereas the normal surrounding and contralateral tissue concentrate little isotopes. A toxic adenoma probably evolves gradually from a small autonomously hyperfunctioning adenoma that initially is only slightly more active than the extranodular tissue. This has been referred to as a "warm" nodule or a "compensated" adenoma. The diagnostic criterion for this designation is the persistence of detectable serum TSH maintaining some radioiodine uptake by the extranodular tissue. This "compensated" adenoma persists as long as the autonomous hormone output is not sufficient to suppress thyrotropin, i.e. to cause hyperthyroidism. The rate of development of thyrotoxicosis in patients with hyperfunctioning adenomas who are euthyroid initially is about 4% per year and depends on the size of the adenoma, iodine intake and age of the patient. No clear relationship can be establish between the nature of the TSH receptor mutations and the phenotype of the tumor.

Relationship between hot spot residues and ligand binding hot spots in protein-protein interfaces.

Science.gov (United States)

Zerbe, Brandon S; Hall, David R; Vajda, Sandor; Whitty, Adrian; Kozakov, Dima

2012-08-27

In the context of protein-protein interactions, the term "hot spot" refers to a residue or cluster of residues that makes a major contribution to the binding free energy, as determined by alanine scanning mutagenesis. In contrast, in pharmaceutical research, a hot spot is a site on a target protein that has high propensity for ligand binding and hence is potentially important for drug discovery. Here we examine the relationship between these two hot spot concepts by comparing alanine scanning data for a set of 15 proteins with results from mapping the protein surfaces for sites that can bind fragment-sized small molecules. We find the two types of hot spots are largely complementary; the residues protruding into hot spot regions identified by computational mapping or experimental fragment screening are almost always themselves hot spot residues as defined by alanine scanning experiments. Conversely, a residue that is found by alanine scanning to contribute little to binding rarely interacts with hot spot regions on the partner protein identified by fragment mapping. In spite of the strong correlation between the two hot spot concepts, they fundamentally differ, however. In particular, while identification of a hot spot by alanine scanning establishes the potential to generate substantial interaction energy with a binding partner, there are additional topological requirements to be a hot spot for small molecule binding. Hence, only a minority of hot spots identified by alanine scanning represent sites that are potentially useful for small inhibitor binding, and it is this subset that is identified by experimental or computational fragment screening.

Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions.

Science.gov (United States)

Arturi, F; Scarpelli, D; Coco, A; Sacco, R; Bruno, R; Filetti, S; Russo, D

2003-04-01

Ten years after the first description of activating mutations in the thyroid stimulating hormone receptor (TSHR) gene in sporadic autonomous hyperfunctioning thyroid adenomas, there is general agreement in assigning a major pathogenic role of this genetic abnormality, acting via the constitutive activation of the cAMP pathway, in both the growth and functional characteristic of these tumours. From the beginning, however, the pathophysiological and clinical relevance of somatic TSHR mutations has been debated and some arguments still exist against a fully causative role of these mutations and the practical value of detecting these mutations for the diagnosis, treatment and prognosis of thyroid hot nodules. Some major issues will be examined herein, including (a) the frequency of TSHR alterations in various reports showing that the genetic abnormality underlying the pathogenesis of a substantial subset of thyroid tumours has yet to be identified; (b) the limitations of the present experimental models, which suggest greater caution in the interpretation of in vitro results; (c) the still unresolved question of absence of genotype-phenotype correlation. Clarification of these issues may hopefully provide new and useful tools for improving the clinical management of this disease.

Energy flux of hot atoms

International Nuclear Information System (INIS)

Wotzak, G.P.; Kostin, M.D.

1976-01-01

The process in which hot atoms collide with thermal atoms of a gas, transfer kinetic energy to them, and produce additional hot atoms is investigated. A stochastic method is used to obtain numerical results for the spatial and time dependent energy flux of hot atoms in a gas. The results indicate that in hot atom systems a front followed by an intense energy flux of hot atoms may develop

Modelling Hot Air Balloons.

Science.gov (United States)

Brimicombe, M. W.

1991-01-01

A macroscopic way of modeling hot air balloons using a Newtonian approach is presented. Misleading examples using a car tire and the concept of hot air rising are discussed. Pressure gradient changes in the atmosphere are used to explain how hot air balloons work. (KR)

Software Simulation of Hot Tearing

DEFF Research Database (Denmark)

Andersen, S.; Hansen, P.N.; Hattel, Jesper Henri

1999-01-01

The brittleness of a solidifying alloy in a temperature range near the solidus temperature has been recognised since the fifties as the mechanism responsible for hot tearing. Due to this brittlenes, the metal will crack under even small amounts of strain in that temperature range. We see these hot...... tears in castings close to hot centres, where the level of strain is often too high.Although the hot tearing mechanism is well understood, until now it has been difficult to do much to reduce the hot tearing tendency in a casting. In the seventies, good hot tearing criteria were developed by considering...... the solidification rate and the strain rate of the hot tear prone areas. But, until recently it was only possible to simulate the solidification rate, so that the criteria could not be used effectively.Today, with new software developments, it is possible to also simulate the strain rate in the hot tear prone areas...

Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma.

Science.gov (United States)

Tonacchera, M; Chiovato, L; Pinchera, A; Agretti, P; Fiore, E; Cetani, F; Rocchi, R; Viacava, P; Miccoli, P; Vitti, P

1998-02-01

Toxic multinodular goiter is a cause of nonautoimmune hyperthyroidism and is believed to differ in its nature and pathogenesis from toxic adenoma. Gain-of-function mutations of the TSH receptor gene have been identified as a cause of toxic adenoma. The pathogenesis at the molecular level of hyperfunctioning nodules in toxic multinodular goiter has yet not been reported. Six patients with a single hot nodule within a multinodular goiter and 11 patients with toxic thyroid adenoma were enrolled in our study. At histology five hyperfunctioning nodules in multinodular goiters showed the features of adenomas, and one was identified as a hyperplastic nodule. The entire exon 10 of the TSH receptor gene was directly sequenced after PCR amplification from genomic DNA obtained from surgical specimens. Functional studies of mutated receptors were performed in COS-7 cells. Five out of 6 (83%) hyperfunctioning nodules within toxic multinodular goiters harbored a TSH receptor mutation. A TSH receptor mutation was also evident in the hyperfunctioning nodule that at histology had the features of noncapsulated hyperplastic nodule. Among toxic adenomas, 8 out of 11 (72%) nodules harbored a TSH receptor mutation. All the mutations were heterozygotic and somatic. Nonfunctioning nodules, whether adenomas or hyperplastic nodules present in association with hyperfunctioning nodules in the same multinodular goiters, had no TSH receptor mutation. All the mutations identified had constitutive activity as assessed by cAMP production after expression in COS-7 cells. Hyperfunctioning thyroid nodules in multinodular goiters recognize the same pathogenetic event (TSH receptor mutation) as toxic adenoma. Other mechanisms are implicated in the growth of nonfunctioning thyroid nodules coexistent in the same gland.

Hot tub folliculitis

Science.gov (United States)

... survives in hot tubs, especially tubs made of wood. Symptoms The first symptom of hot tub folliculitis ... may help prevent the problem. Images Hair follicle anatomy References D'Agata E. Pseudomonas aeruginosa and other ...

Analysis of hot and cold spots of UV target mutations of base substitution in the DNA site, encoding the transfer RNAsupF

International Nuclear Information System (INIS)

Grebneva, E.A.

2012-01-01

Analysis of 27 photo dimers which ate not hot and cold spots of ultraviolet mutagenesis confirm that hot spots of ultraviolet mutagenesis are those sis-syn cyclobutane cytosine-thymine and thymine-cytosine dimers, on which more energy flow down than on such cis-syn cyclobutane cytosine-thymine and thymine-cytosine dimers that are cold spots of ultraviolet mutagenesis. The proposed model is developed in framework of polymerase-tautomer model of ultraviolet mutagenesis

Hot conditioning equipment conceptual design report

International Nuclear Information System (INIS)

Bradshaw, F.W.

1996-01-01

This report documents the conceptual design of the Hot Conditioning System Equipment. The Hot conditioning System will consist of two separate designs: the Hot Conditioning System Equipment; and the Hot Conditioning System Annex. The Hot Conditioning System Equipment Design includes the equipment such as ovens, vacuum pumps, inert gas delivery systems, etc.necessary to condition spent nuclear fuel currently in storage in the K Basins of the Hanford Site. The Hot Conditioning System Annex consists of the facility of house the Hot Conditioning System. The Hot Conditioning System will be housed in an annex to the Canister Storage Building. The Hot Conditioning System will consist of pits in the floor which contain ovens in which the spent nuclear will be conditioned prior to interim storage

Hot conditioning equipment conceptual design report

Energy Technology Data Exchange (ETDEWEB)

Bradshaw, F.W., Westinghouse Hanford

1996-08-06

This report documents the conceptual design of the Hot Conditioning System Equipment. The Hot conditioning System will consist of two separate designs: the Hot Conditioning System Equipment; and the Hot Conditioning System Annex. The Hot Conditioning System Equipment Design includes the equipment such as ovens, vacuum pumps, inert gas delivery systems, etc.necessary to condition spent nuclear fuel currently in storage in the K Basins of the Hanford Site. The Hot Conditioning System Annex consists of the facility of house the Hot Conditioning System. The Hot Conditioning System will be housed in an annex to the Canister Storage Building. The Hot Conditioning System will consist of pits in the floor which contain ovens in which the spent nuclear will be conditioned prior to interim storage.

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

Science.gov (United States)

López, Eva; Casasnovas, Carlos; Giménez, Javier; Santamaría, Raúl; Terrazas, Jesús M; Volpini, Víctor

2015-11-15

Spastic paraplegia type 10 (SPG10) is a rare form of autosomal dominant hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been associated with a wide clinical spectrum, ranging from pure HSP to isolated peripheral nerve involvement or complicated HSP phenotypes. Most KIF5A mutations are clustered in the motor domain of the protein that is necessary for microtubule interaction. Here we describe two Spanish families with an adult onset complicated AD-HSP in which neurological studies revealed a mild sensory neuropathy. Intention tremor was also present in both families. Molecular genetic analysis identified two novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions respectively. Both were located in the highly conserved kinesin motor domain of the protein which has previously been identified as a hot spot for KIF5A mutations. This study adds to the evidence associating the known occurrence of mild peripheral neuropathy in the adult onset SPG10 type of AD-HSP. Copyright © 2015 Elsevier B.V. All rights reserved.

WESF hot cells waste minimization criteria hot cells window seals evaluation

International Nuclear Information System (INIS)

Walterskirchen, K.M.

1997-01-01

WESF will decouple from B Plant in the near future. WESF is attempting to minimize the contaminated solid waste in their hot cells and utilize B Plant to receive the waste before decoupling. WESF wishes to determine the minimum amount of contaminated waste that must be removed in order to allow minimum maintenance of the hot cells when they are placed in ''laid-up'' configuration. The remaining waste should not cause unacceptable window seal deterioration for the remaining life of the hot cells. This report investigates and analyzes the seal conditions and hot cell history and concludes that WESF should remove existing point sources, replace cerium window seals in F-Cell and refurbish all leaded windows (except for A-Cell). Work should be accomplished as soon as possible and at least within the next three years

10 CFR 431.102 - Definitions concerning commercial water heaters, hot water supply boilers, and unfired hot water...

Science.gov (United States)

2010-01-01

... supply boilers, and unfired hot water storage tanks. 431.102 Section 431.102 Energy DEPARTMENT OF ENERGY... Water Heaters, Hot Water Supply Boilers and Unfired Hot Water Storage Tanks § 431.102 Definitions concerning commercial water heaters, hot water supply boilers, and unfired hot water storage tanks. The...

Structure Based Thermostability Prediction Models for Protein Single Point Mutations with Machine Learning Tools.

Directory of Open Access Journals (Sweden)

Lei Jia

Full Text Available Thermostability issue of protein point mutations is a common occurrence in protein engineering. An application which predicts the thermostability of mutants can be helpful for guiding decision making process in protein design via mutagenesis. An in silico point mutation scanning method is frequently used to find "hot spots" in proteins for focused mutagenesis. ProTherm (http://gibk26.bio.kyutech.ac.jp/jouhou/Protherm/protherm.html is a public database that consists of thousands of protein mutants' experimentally measured thermostability. Two data sets based on two differently measured thermostability properties of protein single point mutations, namely the unfolding free energy change (ddG and melting temperature change (dTm were obtained from this database. Folding free energy change calculation from Rosetta, structural information of the point mutations as well as amino acid physical properties were obtained for building thermostability prediction models with informatics modeling tools. Five supervised machine learning methods (support vector machine, random forests, artificial neural network, naïve Bayes classifier, K nearest neighbor and partial least squares regression are used for building the prediction models. Binary and ternary classifications as well as regression models were built and evaluated. Data set redundancy and balancing, the reverse mutations technique, feature selection, and comparison to other published methods were discussed. Rosetta calculated folding free energy change ranked as the most influential features in all prediction models. Other descriptors also made significant contributions to increasing the accuracy of the prediction models.

Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E.

Science.gov (United States)

Sun, Zhifu; Wu, Yanhong; Ordog, Tamas; Baheti, Saurabh; Nie, Jinfu; Duan, Xiaohui; Hojo, Kaori; Kocher, Jean-Pierre; Dyck, Peter J; Klein, Christopher J

2014-08-01

DNA methyltransferase 1 (DNMT1) is essential for DNA methylation, gene regulation and chromatin stability. We previously discovered DNMT1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (HSAN1E; OMIM 614116). HSAN1E is the first adult-onset neurodegenerative disorder caused by a defect in a methyltransferase gene. HSAN1E patients appear clinically normal until young adulthood, then begin developing the characteristic symptoms involving central and peripheral nervous systems. Some HSAN1E patients also develop narcolepsy and it has recently been suggested that HSAN1E is allelic to autosomal dominant cerebellar ataxia, deafness, with narcolepsy (ADCA-DN; OMIM 604121), which is also caused by mutations in DNMT1. A hotspot mutation Y495C within the targeting sequence domain of DNMT1 has been identified among HSAN1E patients. The mutant DNMT1 protein shows premature degradation and reduced DNA methyltransferase activity. Herein, we investigate genome-wide DNA methylation at single-base resolution through whole-genome bisulfite sequencing of germline DNA in 3 pairs of HSAN1E patients and their gender- and age-matched siblings. Over 1 billion 75-bp single-end reads were generated for each sample. In the 3 affected siblings, overall methylation loss was consistently found in all chromosomes with X and 18 being most affected. Paired sample analysis identified 564,218 differentially methylated CpG sites (DMCs; P<0.05), of which 300 134 were intergenic and 264 084 genic CpGs. Hypomethylation was predominant in both genic and intergenic regions, including promoters, exons, most CpG islands, L1, L2, Alu, and satellite repeats and simple repeat sequences. In some CpG islands, hypermethylated CpGs outnumbered hypomethylated CpGs. In 201 imprinted genes, there were more DMCs than in non-imprinted genes and most were hypomethylated. Differentially methylated region (DMR) analysis identified 5649 hypomethylated and 1872

Mutations in the thyrotropin receptor signal transduction pathway in the hyperfunctioning thyroid nodules from multinodular goiters: a study in the Turkish population.

Science.gov (United States)

Gozu, Hulya; Avsar, Melike; Bircan, Rifat; Sahin, Serap; Deyneli, Oguzhan; Cirakoglu, Beyazit; Akalin, Sema

2005-10-01

Many studies have been carried out to determine G(s) alpha and TSHR mutations in autonomously functioning thyroid nodules. Variable prevalences for somatic constitutively activating TSHR mutations in hot nodules have been reported. Moreover, the increased prevalence of toxic multinodular goiters in iodine-deficient regions is well known. In Turkey, a country with high incidence rates of goiter due to iodine deficiency, the frequency of mutations in the thyrotropin receptor signal transduction pathway has not been evaluated up to now. In the present study, a part of the genes of the TSHR, G(s)alpha and the catalytic subunit of the PKA were checked for activating mutations. Thirty-five patients who underwent thyroidectomy for multinodular goiters were examined. Genomic DNAs were extracted from 58 hyperactive nodular specimens and surrounding normal thyroid tissues. Mutation screening was done by single-strand conformational polymorphism (SSCP) analysis. In those cases where a mutation was detected, the localization of the mutation was determined by automatic DNA sequencing. No G(s)alpha or PKA mutations were detected, whereas ten mutations (17%) were identified in the TSHR gene. All mutations were somatic and heterozygotic. In conclusion, the frequency of mutations in the cAMP signal transduction pathway was found to be lower than expected in the Turkish population most likely because of the use of SSCP as a screening method and sequencing only a part of TSHR exon 10.

Hot springs in Hokuriku District

Energy Technology Data Exchange (ETDEWEB)

Sato, K. (Hot Springs Research Center, Japan)

1971-01-01

In the Hokuriku district including Toyama, Ishikawa, and Fukui Prefectures, hot springs of more than 25/sup 0/C were investigated. In the Toyama Prefecture, there are 14 hot springs which are located in an area from the Kurobe River to the Tateyama volcano and in the mountainous area in the southwest. In Ishikawa Prefecture there are 16 hot springs scattered in Hakusan and its vicinity, the Kaga mountains, and in the Noto peninsula. In northern Fukui Prefecture there are seven hot springs. The hot springs in Shirakawa in Gifu Prefecture are characterized as acid springs producing exhalations and H/sub 2/S. These are attributed to the Quaternary volcanoes. The hot springs of Wakura, Katayamazu, and Awara in Ishikawa Prefecture are characterized by a high Cl content which is related to Tertiary andesite. The hot springs of Daishoji, Yamanaka, Yamashiro, Kuritsu, Tatsunokuchi, Yuwaku, and Yunotani are characterized by a low HCO/sub 3/ content. The Ca and SO/sub 4/ content decreases from east to west, and the Na and Cl content increases from west to east. These fluctuations are related to the Tertiary tuff and rhyolite. The hot springs of Kuronagi, Kinshu, and Babadani, located along the Kurobe River are characterized by low levels of dissolved components and high CO/sub 2/ and HCO/sub 3/ content. These trends are related to late Paleozoic granite. Hot springs resources are considered to be connected to geothermal resources. Ten tables, graphs, and maps are provided.

Rooting, growth, and color mutation of poinsettias affected by gamma radiation

Energy Technology Data Exchange (ETDEWEB)

Lee, Eun Kyung; Kim, Won Hee; Kim, Seung Tae [National Institute of Horticultural and Herbal Science, RDA, Suwon (Korea, Republic of); Kang, Si Yong [Korea Atomic Energy Research Institute, Jeongeup (Korea, Republic of)

2010-09-15

This experiment was carried out to investigate the effects of gamma-radiation on the rooting, growth, and color mutation in poinsettia. Using 10 poinsettia varieties ('Lollipop', 'Little Peace', 'Happy Day', 'Early Bird', 'Pixy Red', 'Happy Time', 'Heidi', 'Red Bell', 'Clara', and 'Scarlet') bred by National Institute of Horticultural and Herbal Science, 100 Gy of gamma ray was irradiated at the stage of callused cuttings. Four weeks after sticking cuttings in the rooting media, 8 cultivars showed 100% of root formation, but 'Early Bird' rooted 24.4% and even died off during the cutting propagation. After planting rooted cuttings, survival rate until flowering time varied among irradiated cultivars. While 'Pixy Red' and 'Heidi' survived about 98%, 'Clara', 'Happy Day', and 'Early Bird' survived lesser than 30%. All irradiated plants showed remarkably shorter plant height, lesser branch numbers than non-irradiated control plants. Thirty color mutants were obtained among 281 plants survived until flowering time. Nine were complete color mutated branches, whereas 21 mutants were partially color mutated bracts and transitional leaves. Color patterns mutated by 100 Gy of gamma ray were divided into pink, hot pink, light red and spotted (pink spots with red main color). Pink mutants were commonly obtained. Complete color mutants were discovered from 4 plants of 'Pixy Red', 2 plants of 'Red Bell' and 3 plants of Lollipop.

Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients

International Nuclear Information System (INIS)

Dumaz, N.; Drougard, C.; Sarasin, A.; Daya-Grosjean, L.

1993-01-01

The UV component of sunlight is the major carcinogen involved in the etiology of skin cancers. The authors have studied the rare, hereditary syndrome xeroderma pigmentosum (XP), which is characterized by a very high incidence of cutaneous tumors on exposed skin at an early age, probably due to a deficiency in excision repair of UV-induced lesions. It is interesting to determine the UV mutation spectrum in XP skin tumors in order to correlate the absence of repair of specific DNA lesions and the initiation of skin tumors. The p53 gene is frequently mutated in human cancers and represents a good target for studying mutation spectra since there are >100 potential sites for phenotypic mutations. Using reverse transcription-PCR and single-strand conformation polymorphism to analyze >40 XP skin tumors (mainly basal and squamous cell carcinomas), the authors have found that 40% (17 out of 43) contained at least one point mutation on the p53 gene. All the mutations were located at dipyrimidine sites, essentially at CC sequences, which are hot spots for UV-induced DNA lesions. Sixty-one percent of these mutations were tandem CC → TT mutations considered to be unique to UV-induced lesions; these mutations are not observed in internal human tumors. All the mutations, except two, must be due to translesion synthesis of unrepaired dipyrimidine lesions left on the nontranscribed strand. These results show the existence of preferential repair of UV lesions [either pyrimidine dimers or pyrimidine-pyrimidone (6-4) photoproducts] on the transcribed strand in human tissues

Establishment and application of a multiplex genetic mutation-detection method of lung cancer based on MassARRAY platform

International Nuclear Information System (INIS)

Tian, Hong-Xia; Zhang, Xu-Chao; Wang, Zhen; Chen, Jian-Guang; Chen, Shi-Liang; Guo, Wei-Bang; Wu, Yi-Long

2016-01-01

Objective: This study aims to establish a method for highly parallel multiplexed detection of genetic mutations in Chinese lung cancer samples through Agena iPLEX chemistry and matrix-assisted laser desorption ionization time-of-flight analysis on MassARRAY mass spectrometry platform. Methods: We reviewed the related literature and data on lung cancer treatments. We also identified 99 mutation hot spots in 13 target genes closely related to the pathogenesis, drug resistance, and metastasis of lung cancer. A total of 297 primers, composed of 99 paired forward and reverse amplification primers and 99 matched extension primers, were designed using Assay Design software. The detection method was established by analyzing eight cell lines and six lung cancer specimens. The proposed method was then validated through comparisons by using a LungCarta TM kit. The sensitivity and specificity of the proposed method were evaluated by directly sequencing EGFR and KRAS genes in 100 lung cancer cases. Results: The proposed method was able to detect multiplex genetic mutations in lung cancer cell lines. This finding was consistent with the observations on previously reported mutations. The proposed method can also detect such mutations in clinical lung cancer specimens. This result was consistent with the observations with LungCarta TM kit. However, an FGFR2 mutation was detected only through the proposed method. The measured sensitivity and specificity were 100% and 96.3%, respectively. Conclusions: The proposed MassARRAY technology-based multiplex method can detect genetic mutations in Chinese lung cancer patients. Therefore, the proposed method can be applied to detect mutations in other cancer tissues

Detection of Hot Halo Gets Theory Out of Hot Water

Science.gov (United States)

2006-02-01

Scientists using NASA's Chandra X-ray Observatory have detected an extensive halo of hot gas around a quiescent spiral galaxy. This discovery is evidence that galaxies like our Milky Way are still accumulating matter from the gradual inflow of intergalactic gas. "What we are likely witnessing here is the ongoing galaxy formation process," said Kristian Pedersen of the University of Copenhagen, Denmark, and lead author of a report on the discovery. Chandra observations show that the hot halo extends more than 60,000 light years on either side of the disk of the galaxy known as NGC 5746. The detection of such a large halo alleviates a long-standing problem for the theory of galaxy formation. Spiral galaxies are thought to form from enormous clouds of intergalactic gas that collapse to form giant, spinning disks of stars and gas. Chandra X-ray Image of NGC 5746 Chandra X-ray Image of NGC 5746 One prediction of this theory is that large spiral galaxies should be immersed in halos of hot gas left over from the galaxy formation process. Hot gas has been detected around spiral galaxies in which vigorous star formation is ejecting matter from the galaxy, but until now hot halos due to infall of intergalactic matter have not been detected. "Our observations solve the mystery of the missing hot halos around spiral galaxies," said Pedersen. "The halos exist, but are so faint that an extremely sensitive telescope such as Chandra is needed to detect them." DSS Optical Image of NGC 5746 DSS Optical Image of NGC 5746 NGC 5746 is a massive spiral galaxy about a 100 million light years from Earth. Its disk of stars and gas is viewed almost edge-on. The galaxy shows no signs of unusual star formation, or energetic activity from its nuclear region, making it unlikely that the hot halo is produced by gas flowing out of the galaxy. "We targeted NGC 5746 because we thought its distance and orientation would give us the best chance to detect a hot halo caused by the infall of

Thermodynamics of antibody-antigen interaction revealed by mutation analysis of antibody variable regions.

Science.gov (United States)

Akiba, Hiroki; Tsumoto, Kouhei

2015-07-01

Antibodies (immunoglobulins) bind specific molecules (i.e. antigens) with high affinity and specificity. In order to understand their mechanisms of recognition, interaction analysis based on thermodynamic and kinetic parameters, as well as structure determination is crucial. In this review, we focus on mutational analysis which gives information about the role of each amino acid residue in antibody-antigen interaction. Taking anti-hen egg lysozyme antibodies and several anti-small molecule antibodies, the energetic contribution of hot-spot and non-hot-spot residues is discussed in terms of thermodynamics. Here, thermodynamics of the contribution from aromatic, charged and hydrogen bond-forming amino acids are discussed, and their different characteristics have been elucidated. The information gives fundamental understanding of the antibody-antigen interaction. Furthermore, the consequences of antibody engineering are analysed from thermodynamic viewpoints: humanization to reduce immunogenicity and rational design to improve affinity. Amino acid residues outside hot-spots in the interface play important roles in these cases, and thus thermodynamic and kinetic parameters give much information about the antigen recognition. Thermodynamic analysis of mutant antibodies thus should lead to advanced strategies to design and select antibodies with high affinity. © The Authors 2015. Published by Oxford University Press on behalf of the Japanese Biochemical Society. All rights reserved.

Hot Gas Halos in Galaxies

Science.gov (United States)

Mulchaey, John

Most galaxy formation models predict that massive low-redshift disk galaxies are embedded in extended hot halos of externally accreted gas. Such gas appears necessary to maintain ongoing star formation in isolated spirals like the Milky Way. To explain the large population of red galaxies in rich groups and clusters, most galaxy evolution models assume that these hot gas halos are stripped completely when a galaxy enters a denser environment. This simple model has been remarkably successful at reproducing many observed properties of galaxies. Although theoretical arguments suggest hot gas halos are an important component in galaxies, we know very little about this gas from an observational standpoint. In fact, previous observations have failed to detect soft X-ray emission from such halos in disk galaxies. Furthermore, the assumption that hot gas halos are stripped completely when a galaxy enters a group or cluster has not been verified. We propose to combine proprietary and archival XMM-Newton observations of galaxies in the field, groups and clusters to study how hot gas halos are impacted by environment. Our proposed program has three components: 1) The deepest search to date for a hot gas halo in a quiescent spiral galaxy. A detection will confirm a basic tenet of disk galaxy formation models, whereas a non-detection will seriously challenge these models and impose new constraints on the growth mode and feedback history of disk galaxies. 2) A detailed study of the hot gas halos properties of field early-type galaxies. As environmental processes such as stripping are not expected to be important in the field, a study of hot gas halos in this environment will allow us to better understand how feedback and other internal processes impact hot gas halos. 3) A study of hot gas halos in the outskirts of groups and clusters. By comparing observations with our suite of simulations we can begin to understand what role the stripping of hot gas halos plays in galaxy

Hot flashes and sleep in women.

Science.gov (United States)

Moe, Karen E

2004-12-01

Sleep disturbances during menopause are often attributed to nocturnal hot flashes and 'sweats' associated with changing hormone patterns. This paper is a comprehensive critical review of the research on the relationship between sleep disturbance and hot flashes in women. Numerous studies have found a relationship between self-reported hot flashes and sleep complaints. However, hot flash studies using objective sleep assessment techniques such as polysomnography, actigraphy, or quantitative analysis of the sleep EEG are surprisingly scarce and have yielded somewhat mixed results. Much of this limited evidence suggests that hot flashes are associated with objectively identified sleep disruption in at least some women. At least some of the negative data may be due to methodological issues such as reliance upon problematic self-reports of nocturnal hot flashes and a lack of concurrent measures of hot flashes and sleep. The recent development of a reliable and non-intrusive method for objectively identifying hot flashes during the night should help address the need for substantial additional research in this area. Several areas of clinical relevance are described, including the effects of discontinuing combined hormone therapy (estrogen plus progesterone) or estrogen-only therapy, the possibility of hot flashes continuing for many years after menopause, and the link between hot flashes and depression.

Update on the KELT Transit Survey: Hot Planets around Hot Stars

Science.gov (United States)

Gaudi, B. Scott; Stassun, Keivan G.; Pepper, Joshua; KELT Collaboration

2018-01-01

The KELT Transit Survey consists of a pair of small-aperture, wide-angle automated telescopes located at Winer Observatory in Sonoita, Arizona and the South African Astronomical Observatory (SAAO) in Sutherland, South Africa. Together, they are surveying roughly 70% of the sky for transiting planets. By virtue of their small apertures (42 mm) and large fields-of-view (26 degrees x 26 degrees), KELT is most sensitive to hot Jupiters transiting relatively bright (V~8-11), and thus relatively hot stars. I will provide an update on the planets discovered by KELT, focusing in detail on our recent discoveries of very hot planets transiting several bright A and early F stars.

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

Science.gov (United States)

McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

2002-07-01

Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

Hot subluminous star: HDE 283048

International Nuclear Information System (INIS)

Laget, M.; Vuillemin, A.; Parsons, S.B.; Henize, K.G.; Wray, J.D.

1978-01-01

The star HDE 283048, located at α = 3/sup h/50/sup m/.3, delta = +25 0 36', shows a strong ultraviolet continuum. Ground-based observations indicate a hot-dominated composite spectrum. Several lines of evidence suggest that the hot component is a hot subdwarf. 2 figures

Statistical hot spot analysis of reactor cores

International Nuclear Information System (INIS)

Schaefer, H.

1974-05-01

This report is an introduction into statistical hot spot analysis. After the definition of the term 'hot spot' a statistical analysis is outlined. The mathematical method is presented, especially the formula concerning the probability of no hot spots in a reactor core is evaluated. A discussion with the boundary conditions of a statistical hot spot analysis is given (technological limits, nominal situation, uncertainties). The application of the hot spot analysis to the linear power of pellets and the temperature rise in cooling channels is demonstrated with respect to the test zone of KNK II. Basic values, such as probability of no hot spots, hot spot potential, expected hot spot diagram and cumulative distribution function of hot spots, are discussed. It is shown, that the risk of hot channels can be dispersed equally over all subassemblies by an adequate choice of the nominal temperature distribution in the core

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Science.gov (United States)

Atik, Tahir; Aykut, Ayca; Hazan, Filiz; Onay, Huseyin; Goksen, Damla; Darcan, Sukran; Tukun, Ajlan; Ozkinay, Ferda

2016-06-01

To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations. In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were analyzed. Thirteen different PTPN11 mutations, two of them being novel, were detected in the study group. These mutations included eleven missense mutations: p.G60A, p.D61N, p.Y62D, p.Y63C, p.E69Q, p.Q79R, p.Y279C,p.N308D, p.N308S, p.M504V, p.Q510R and two novel missense mutations: p.I56V and p.I282M. The frequency of cardiac abnormalities and short stature were found to be 80 % and 80 %, respectively. Mental retardation was not observed in patients having exon 8 mutations. No significant correlations were detected between other phenotypic features and genotypes. By identifying genotype-phenotype correlations, this study provides information on phenotypes observed in NS patients with different PTPN11 mutations.

Fidelity and Mutational Spectrum of Pfu DNA Polymerase on a Human Mitochondrial DNA Sequence

Science.gov (United States)

André, Paulo; Kim, Andrea; Khrapko, Konstantin; Thilly, William G.

1997-01-01

The study of rare genetic changes in human tissues requires specialized techniques. Point mutations at fractions at or below 10−6 must be observed to discover even the most prominent features of the point mutational spectrum. PCR permits the increase in number of mutant copies but does so at the expense of creating many additional mutations or “PCR noise”. Thus, each DNA sequence studied must be characterized with regard to the DNA polymerase and conditions used to avoid interpreting a PCR-generated mutation as one arising in human tissue. The thermostable DNA polymerase derived from Pyrococcus furiosus designated Pfu has the highest fidelity of any DNA thermostable polymerase studied to date, and this property recommends it for analyses of tissue mutational spectra. Here, we apply constant denaturant capillary electrophoresis (CDCE) to separate and isolate the products of DNA amplification. This new strategy permitted direct enumeration and identification of point mutations created by Pfu DNA polymerase in a 96-bp low melting domain of a human mitochondrial sequence despite the very low mutant fractions generated in the PCR process. This sequence, containing part of the tRNA glycine and NADH dehydrogenase subunit 3 genes, is the target of our studies of mitochondrial mutagenesis in human cells and tissues. Incorrectly synthesized sequences were separated from the wild type as mutant/wild-type heteroduplexes by sequential enrichment on CDCE. An artificially constructed mutant was used as an internal standard to permit calculation of the mutant fraction. Our study found that the average error rate (mutations per base pair duplication) of Pfu was 6.5 × 10−7, and five of its more frequent mutations (hot spots) consisted of three transversions (GC → TA, AT → TA, and AT → CG), one transition (AT → GC), and one 1-bp deletion (in an AAAAAA sequence). To achieve an even higher sensitivity, the amount of Pfu-induced mutants must be

Fidelity and mutational spectrum of Pfu DNA polymerase on a human mitochondrial DNA sequence.

Science.gov (United States)

André, P; Kim, A; Khrapko, K; Thilly, W G

1997-08-01

The study of rare genetic changes in human tissues requires specialized techniques. Point mutations at fractions at or below 10(-6) must be observed to discover even the most prominent features of the point mutational spectrum. PCR permits the increase in number of mutant copies but does so at the expense of creating many additional mutations or "PCR noise". Thus, each DNA sequence studied must be characterized with regard to the DNA polymerase and conditions used to avoid interpreting a PCR-generated mutation as one arising in human tissue. The thermostable DNA polymerase derived from Pyrococcus furiosus designated Pfu has the highest fidelity of any DNA thermostable polymerase studied to date, and this property recommends it for analyses of tissue mutational spectra. Here, we apply constant denaturant capillary electrophoresis (CDCE) to separate and isolate the products of DNA amplification. This new strategy permitted direct enumeration and identification of point mutations created by Pfu DNA polymerase in a 96-bp low melting domain of a human mitochondrial sequence despite the very low mutant fractions generated in the PCR process. This sequence, containing part of the tRNA glycine and NADH dehydrogenase subunit 3 genes, is the target of our studies of mitochondrial mutagenesis in human cells and tissues. Incorrectly synthesized sequences were separated from the wild type as mutant/wild-type heteroduplexes by sequential enrichment on CDCE. An artificially constructed mutant was used as an internal standard to permit calculation of the mutant fraction. Our study found that the average error rate (mutations per base pair duplication) of Pfu was 6.5 x 10(-7), and five of its more frequent mutations (hot spots) consisted of three transversions (GC-->TA, AT-->TA, and AT-->CG), one transition (AT-->GC), and one 1-bp deletion (in an AAAAAA sequence). To achieve an even higher sensitivity, the amount of Pfu-induced mutants must be reduced.

Molecular cytogenetics of radiation-induced gene mutations in Drosophila melanogaster

International Nuclear Information System (INIS)

Aleksandrov, I.D.; Aleksandrova, M.V.; Lapidus, I.L.; Karpovskij, A.L.

1996-01-01

The classical paradigm of spatially unrelated lesions for gene mutations and chromosomal exchange breakpoints induced by ionizing radiations in eukaryotic cells was re-examined in the experiments on the mapping of gamma-ray- or neutron-induced breakpoints in and outside of white (w) and vestigial (vg) genes of Drosophila melanogaster using the in situ hybridization of the large fragments of the genes under study with the polythene chromosomes of the relevant mutants. The results for the random sample of 60 inversion and translocation breakpoints analysed to date have shown that (i) 50% of them are mapped as the hot spots within big introns of both the genes, and (ii) 21 of 60 breaks (35%) are located outside of genes. It is important to note that 26% (16/60) of the breakpoints analysed are flanked by the deletions, the sizes of which vary from the quarter to a whole of the gene. It was found that the deletions flank both the inversion and translocation breakpoints and arise more often after action of neutrons than photons. An unexpectedly high frequency of the multiple-damaged w and vg mutants that have the gene/point mutation and additional, but separate, chromosome exchange (the so-called double- or triple-site mutants) has shown that the genetic danger of ionizing radiation is higher than usually accepted on the base of single gene/point mutation assessments. 11 refs., 3 figs

MIS hot electron devices for enhancement of surface reactivity by hot electrons

DEFF Research Database (Denmark)

Thomsen, Lasse Bjørchmar

A Metal-Insulator-Semiconductor (MIS) based device is developed for investigation of hot electron enhanced chemistry. A model of the device is presented explaining the key concepts of the functionality and the character- istics. The MIS hot electron emitter is fabricated using cleanroom technology...... and the process sequence is described. An Ultra High Vacuum (UHV) setup is modified to facilitate experiments with electron emission from the MIS hot electron emitters and hot electron chemistry. Simulations show the importance of keeping tunnel barrier roughness to an absolute minimum. The tunnel oxide...... to be an important energy loss center for the electrons tunneling through the oxide lowering the emission e±ciency of a factor of 10 for a 1 nm Ti layer thickness. Electron emission is observed under ambient pressure conditions and in up to 2 bars of Ar. 2 bar Ar decrease the emission current by an order...

MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders.

Science.gov (United States)

Ma, Wanlong; Zhang, Xi; Wang, Xiuqiang; Zhang, Zhong; Yeh, Chen-Hsiung; Uyeji, Jennifer; Albitar, Maher

2011-03-01

Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs. A total of 2790 patient samples submitted for JAK2 mutation analysis were tested using real-time polymerase chain reaction and bidirectional sequencing of plasma RNA. JAK2 V617F-negative samples were tested for JAK2 exons 12 to 14 mutations, and those with negative results were then tested for mutations in MPL exons 10 and 11. Of the 2790 patients, 529 (18.96%) had V617F, 12 (0.43%) had small insertions or deletions in exon 12, and 7 (0.25%) had other JAK2 mutations in exons 12 to 14. Of the 2242 JAK2 mutation-negative patients, 68 (3.03%) had MPL mutations. W515L was the predominant MPL mutation (n=46; 68%), and 10 (15%) patients had other W515 variants. The remaining MPL mutations (n=12, 17%) were detected at other locations in exons 10 and 11 and included 3 insertion/deletion mutations. The S505N mutation, associated with familial MPD, was detected in 3 patients. Overall, for every 100 V617F mutations in patients with suspected MPDs, there were 12.9 MPL mutations, 2.3 JAK2 exon 12 mutations, and 1.3 JAK2 exons 13 to 14 mutations. These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 testing in JAK2 V617F-negative patients with suspected MPDs.

Recent trend of administration on hot springs

Energy Technology Data Exchange (ETDEWEB)

Okubo, Shigeru [Environment Agency, Tokyo (Japan)

1989-01-01

The Environmental Agency exercises jurisdiction over Hot Spring Act, and plans to protect the source of the hot spring and to utilize it appropriately. From the aspect of utilization, hot springs are widely used as a means to remedy chronic diseases and tourist spots besides places for recuperation and repose. Statistics on Japanese hot springs showed that the number of hot spring spots and utilized-fountainhead increased in 1987, compared with the number in 1986. Considering the utilized-headspring, the number of naturally well-out springs has stabilized for 10 years while power-operated springs have increased. This is because the demand of hot springs has grown as the number of users has increased. Another reason is to keep the amount of hot water by setting up the power facility as the welled-out amount has decreased. Major point of recent administration on the hot spring is to permit excavation and utilization of hot springs. Designation of National hot spring health resorts started in 1954 in order to ensure the effective and original use of hot springs and to promote the public use of them, for the purpose of arranging the sound circumstances of hot springs. By 1988, 76 places were designated. 4 figs., 3 tabs.

Computational Prediction of Hot Spot Residues

Science.gov (United States)

Morrow, John Kenneth; Zhang, Shuxing

2013-01-01

Most biological processes involve multiple proteins interacting with each other. It has been recently discovered that certain residues in these protein-protein interactions, which are called hot spots, contribute more significantly to binding affinity than others. Hot spot residues have unique and diverse energetic properties that make them challenging yet important targets in the modulation of protein-protein complexes. Design of therapeutic agents that interact with hot spot residues has proven to be a valid methodology in disrupting unwanted protein-protein interactions. Using biological methods to determine which residues are hot spots can be costly and time consuming. Recent advances in computational approaches to predict hot spots have incorporated a myriad of features, and have shown increasing predictive successes. Here we review the state of knowledge around protein-protein interactions, hot spots, and give an overview of multiple in silico prediction techniques of hot spot residues. PMID:22316154

Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

Science.gov (United States)

Al Shibli, Amar; Narchi, Hassib

2015-01-01

Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

Hot Spots and Hot Moments of Nitrogen in a Riparian Corridor

Science.gov (United States)

Dwivedi, Dipankar; Arora, Bhavna; Steefel, Carl I.; Dafflon, Baptiste; Versteeg, Roelof

2018-01-01

We use 3-D high-resolution reactive transport modeling to investigate whether the spatial distribution of organic-carbon-rich and chemically reduced sediments located in the riparian zone and temporal variability in groundwater flow direction impact the formation and distribution of nitrogen hot spots (regions that exhibit higher reaction rates when compared to other locations nearby) and hot moments (times that exhibit high reaction rates as compared to longer intervening time periods) within the Rifle floodplain in Colorado. Groundwater flows primarily toward the Colorado River from the floodplain but changes direction at times of high river stage. The result is that oxic river water infiltrates the Rifle floodplain during these relatively short-term events. Simulation results indicate that episodic rainfall in the summer season leads to the formation of nitrogen hot moments associated with Colorado River rise and resulting river infiltration into the floodplain. The results further demonstrate that the naturally reduced zones (NRZs) present in sediments of the Rifle floodplain have a higher potential for nitrate removal, approximately 70% greater than non-NRZs for typical hydrological conditions. During river water infiltration, nitrate reduction capacity remains the same within the NRZs, however, these conditions impact non-NRZs to a greater extent (approximately 95% less nitrate removal). Model simulations indicate chemolithoautotrophs are primarily responsible for the removal of nitrate in the Rifle floodplain. These nitrogen hot spots and hot moments are sustained by microbial respiration and the chemolithoautotrophic oxidation of reduced minerals in the riparian zone.

Hot Spot Removal System: System description

Energy Technology Data Exchange (ETDEWEB)

NONE

1997-09-01

Hazardous wastes contaminated with radionuclides, chemicals, and explosives exist across the Department of Energy complex and need to be remediated due to environmental concerns. Currently, an opportunity is being developed to dramatically reduce remediation costs and to assist in the acceleration of schedules associated with these wastes by deploying a Hot Spot Removal System. Removing the hot spot from the waste site will remove risk driver(s) and enable another, more cost effective process/option/remedial alternative (i.e., capping) to be applied to the remainder of the site. The Hot Spot Removal System consists of a suite of technologies that will be utilized to locate and remove source terms. Components of the system can also be used in a variety of other cleanup activities. This Hot Spot Removal System Description document presents technologies that were considered for possible inclusion in the Hot Spot Removal System, technologies made available to the Hot Spot Removal System, industrial interest in the Hot Spot Removal System`s subsystems, the schedule required for the Hot Spot Removal System, the evaluation of the relevant technologies, and the recommendations for equipment and technologies as stated in the Plan section.

Hot Spot Removal System: System description

International Nuclear Information System (INIS)

1997-09-01

Hazardous wastes contaminated with radionuclides, chemicals, and explosives exist across the Department of Energy complex and need to be remediated due to environmental concerns. Currently, an opportunity is being developed to dramatically reduce remediation costs and to assist in the acceleration of schedules associated with these wastes by deploying a Hot Spot Removal System. Removing the hot spot from the waste site will remove risk driver(s) and enable another, more cost effective process/option/remedial alternative (i.e., capping) to be applied to the remainder of the site. The Hot Spot Removal System consists of a suite of technologies that will be utilized to locate and remove source terms. Components of the system can also be used in a variety of other cleanup activities. This Hot Spot Removal System Description document presents technologies that were considered for possible inclusion in the Hot Spot Removal System, technologies made available to the Hot Spot Removal System, industrial interest in the Hot Spot Removal System''s subsystems, the schedule required for the Hot Spot Removal System, the evaluation of the relevant technologies, and the recommendations for equipment and technologies as stated in the Plan section

The Distinction of Hot Herbal Compress, Hot Compress, and Topical Diclofenac as Myofascial Pain Syndrome Treatment.

Science.gov (United States)

Boonruab, Jurairat; Nimpitakpong, Netraya; Damjuti, Watchara

2018-01-01

This randomized controlled trial aimed to investigate the distinctness after treatment among hot herbal compress, hot compress, and topical diclofenac. The registrants were equally divided into groups and received the different treatments including hot herbal compress, hot compress, and topical diclofenac group, which served as the control group. After treatment courses, Visual Analog Scale and 36-Item Short Form Health survey were, respectively, used to establish the level of pain intensity and quality of life. In addition, cervical range of motion and pressure pain threshold were also examined to identify the motional effects. All treatments showed significantly decreased level of pain intensity and increased cervical range of motion, while the intervention groups exhibited extraordinary capability compared with the topical diclofenac group in pressure pain threshold and quality of life. In summary, hot herbal compress holds promise to be an efficacious treatment parallel to hot compress and topical diclofenac.

Hot particles

International Nuclear Information System (INIS)

Merwin, S.E.; Moeller, M.P.

1989-01-01

Nuclear Regulatory Commission (NRC) licensees are required to assess the dose to skin from a hot particle contamination event at a depth of skin of7mg/cm 2 over an area of 1 cm 2 and compare the value to the current dose limit for the skin. Although the resulting number is interesting from a comparative standpoint and can be used to predict local skin reactions, comparison of the number to existing limits based on uniform exposures is inappropriate. Most incidents that can be classified as overexposures based on this interpretation of dose actually have no effect on the health of the worker. As a result, resources are expended to reduce the likelihood that an overexposure event will occur when they could be directed toward eliminating the cause of the problem or enhancing existing programs such as contamination control. Furthermore, from a risk standpoint, this practice is not ALARA because some workers receive whole body doses in order to minimize the occurrence of hot particle skin contaminations. In this paper the authors suggest an alternative approach to controlling hot particle exposures

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

Science.gov (United States)

Demir, Hande; Donner, Iikki; Kivipelto, Leena; Kuismin, Outi; Schalin-Jäntti, Camilla; De Menis, Ernesto; Karhu, Auli

2014-01-01

Pituitary adenomas are neoplasms of the anterior pituitary lobe and account for 15-20% of all intracranial tumors. Although most pituitary tumors are benign they can cause severe symptoms related to tumor size as well as hypopituitarism and/or hypersecretion of one or more pituitary hormones. Most pituitary adenomas are sporadic, but it has been estimated that 5% of patients have a familial background. Germline mutations of the tumor suppressor gene aryl hydrocarbon receptor-interacting protein (AIP) predispose to hereditary pituitary neoplasia. Recently, it has been demonstrated that AIP mutations predispose to pituitary tumorigenesis through defective inhibitory GTP binding protein (Gαi) signaling. This finding prompted us to examine whether germline loss-of-function mutations in inhibitory guanine nucleotide (GTP) binding protein alpha (GNAI) loci are involved in genetic predisposition of pituitary tumors. To our knowledge, this is the first time GNAI genes are sequenced in order to examine the occurrence of inactivating germline mutations. Thus far, only somatic gain-of-function hot-spot mutations have been studied in these loci. Here, we have analyzed the coding regions of GNAI1, GNAI2, and GNAI3 in a set of young sporadic somatotropinoma patients (n = 32; mean age of diagnosis 32 years) and familial index cases (n = 14), thus in patients with a disease phenotype similar to that observed in AIP mutation carriers. In addition, expression of Gαi proteins was studied in human growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH)-secreting and non-functional pituitary tumors. No pathogenic germline mutations affecting the Gαi proteins were detected. The result suggests that loss-of-function mutations of GNAI loci are rare or nonexistent in familial pituitary adenomas.

Hot-Film and Hot-Wire Anemometry for a Boundary Layer Active Flow Control Test

Science.gov (United States)

Lenahan, Keven C.; Schatzman, David M.; Wilson, Jacob Samuel

2013-01-01

Unsteady active flow control (AFC) has been used experimentally for many years to minimize bluff-body drag. This technology could significantly improve performance of rotorcraft by cleaning up flow separation. It is important, then, that new actuator technologies be studied for application to future vehicles. A boundary layer wind tunnel was constructed with a 1ft-x-3ft test section and unsteady measurement instrumentation to study how AFC manipulates the boundary layer to overcome adverse pressure gradients and flow separation. This unsteady flow control research requires unsteady measurement methods. In order to measure the boundary layer characteristics, both hot-wire and hot-film Constant Temperature Anemometry is used. A hot-wire probe is mounted in the flow to measure velocity while a hot-film array lays on the test surface to measure skin friction. Hot-film sensors are connected to an anemometer, a Wheatstone bridge circuit with an output that corresponds to the dynamic flow response. From this output, the time varying flow field, turbulence, and flow reversal can be characterized. Tuning the anemometers requires a fan test on the hot-film sensors to adjust each output. This is a delicate process as several variables drastically affect the data, including control resistance, signal input, trim, and gain settings.

Distinct profiles of TERT promoter mutations and telomerase expression in head and neck cancer and cervical carcinoma.

Science.gov (United States)

Annunziata, Clorinda; Pezzuto, Francesca; Greggi, Stefano; Ionna, Franco; Losito, Simona; Botti, Gerardo; Buonaguro, Luigi; Buonaguro, Franco M; Tornesello, Maria Lina

2018-03-31

Two recurrent mutations (-124 G > A and -146 G > A) in the core promoter region of the human telomerase reverse transcriptase (TERT) gene create consensus binding sites for ETS transcription factors and cause increased TERT expression in several tumour types. We analyzed TERT promoter mutations and TERT mRNA levels in head and neck cancer, cervical carcinoma and cervical intraepithelial neoplasia (CIN) as well as in C-4I, CaSki, HeLa and SiHa cervical cell lines. Nucleotide sequence analysis of TERT promoter region showed that 33.3% of oral squamous cell carcinoma (SCC) and 16.8% of cervical SCC harboured mutually exclusive G to A transitions at nucleotide position -124 or -146. TERT promoter was mutated at nucleotide -146 (G > A) in SiHa cell line. Other nucleotide changes creating in some cases putative ETS binding sites were more frequent in oral SCC (26.7%) than in cervical carcinoma (4.8%). The frequency of mutations was independent of human papillomavirus (HPV) tumour status in both cervical and oral cancer. Expression of TERT gene was significantly higher in TERT promoter mutated (-124G > A or -146G > A) cervical SCC compared to not mutated SCC irrespective of HPV16 E6 and E7 levels. Such hot spot changes were not detected in oropharyngeal SCC, cervical adenocarcinoma and CIN lesions. Our results suggest that TERT promoter mutations play a relevant role in oral SCC as well as in cervical SCC, besides the already known effect of HPV16 E6 protein on TERT expression. © 2018 UICC.

Identification of a rare point mutation at C-terminus of merozoite surface antigen-1 gene of Plasmodium falciparum in eastern Indian isolates.

Science.gov (United States)

Raj, Dipak Kumar; Das, Bibhu Ranjan; Dash, A P; Supakar, Prakash C

2004-01-01

Merozoite surface antigen-1 (MSA-1) of Plasmodium falciparum is highly immunogenic in human. Several studies suggest that MSA-1 protein is an effective target for a protective immune response. Attempt has been made to find new point mutations by analyzing 244 bp [codon 1655(R) to 1735 (I)] relatively conserved C-terminus region of MSA-1 gene in 125 isolates. This region contains two EGF like domains, which are involved in generating protective immune response in human. Point mutations in this region are very much important in view of vaccine development. Searching of mutational hot spots in MSA-1 protein by sequencing method in a representative number of isolates is quite critical and expensive. Therefore, in this study slot blot and PCR-SSCP method have been used to find out new mutations in the individual isolates showing alterations in the mobility of DNA fragment. Sequencing of the altered bands from the SSCP gel shows a rare non-synonymous point mutation in 7 (5.6%) of the 125 isolates at amino acid position 1704 of MSA-1 gene where isoleucine is replaced by valine.

SHOSPA-MOD, Hot Spot Factors for Fuel and Clad, Hot Channel Factors

International Nuclear Information System (INIS)

Amendola, A.

1982-01-01

1 - Nature of the physical problem solved: SHOSPA evaluates the hot spot factors for fuel and cladding as well as the hot channel factor as a function of the confidence level. Moreover, it evaluates the probability on n hot subassemblies. The code has been developed with emphasis on sodium cooled fast reactors, but it is applicable to any type of reactors constituted of bundled fuel rods with single phase coolant. An option for plotting is available in this version. 2 - Restrictions on the complexity of the problem: This code is applicable to any type of reactors constituted of fuel rods with single phase coolant

The CDC Hemophilia B mutation project mutation list: a new online resource.

Science.gov (United States)

Li, Tengguo; Miller, Connie H; Payne, Amanda B; Craig Hooper, W

2013-11-01

Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list is compiled in an easily accessible format of Microsoft Excel and contains 1083 unique mutations that are reported to cause HB. Each mutation is identified using Human Genome Variation Society (HGVS) nomenclature standards. The mutation types and the predicted changes in amino acids, if applicable, are also provided. Related information including the location of mutation, severity of HB, the presence of inhibitor, and original publication reference are listed as well. Therefore, our mutation list provides an easily accessible resource for genetic counselors and HB researchers to predict inhibitors. The CHBMP mutation list is freely accessible at http://www.cdc.gov/hemophiliamutations.

Application of Cyclone to Removal of Hot Particulate in Hot Cell

International Nuclear Information System (INIS)

Kim, Gye Nam; Lee, Sung Yeol; Won, Hui Jun; Jung, Chong Hun; Oh, Won Zin

2005-01-01

The size and main ingredient of hot particulate generated during the nuclide experiment in hot cells of nuclear facilities were 0.5300 μm and UO 2 . A cyclone filter equipment which consists of a cyclone and Bag/HEPA filter was devised to remove hot particulate generated during the nuclide experiment in hot cells of nuclear facilities. The experimental conditions to maximize the collection efficiency of hot particulate were suggested through experiments done with the cyclone filter equipment. With the large size of simulated particulate, the collection efficiency of the particulate was high. When the size of simulated particulate was more than 5 μm, the collection efficiency of the particulate was more than 80% and when the size of simulated particulate was less than 1.0 μm, the collection efficiency decreased by less than. If the inflow velocity of simulated particulate was increased, the collection efficiency of the particulate was also increased. When the inflow velocity of simulated particulate was more than 12 m/sec, the collection efficiency was higher than , but after 17 m/sec inflow velocity, no change observed. The collection efficiency of the simulated particulate can be enhanced with the length of vortex finder inside the chamber. With the length of vortex finder, 7.2 cm, the observed collection efficiency of the particulate was the maximum. Moreover, when the sub-cone was attached under the cyclone, the collection efficiency of cyclone increased 2%. It was found that effect by attachment of sub-cone was not serious.

Ionospheric hot spot at high latitudes

International Nuclear Information System (INIS)

Schunk, R.W.; Sojka, J.J.

1982-01-01

A hot spot (or spots) can occur in the high-latitude ionosphere depending on the plasma convection pattern. The hot spot corresponds to a small magnetic local time-magnetic latitude region of elevated ion temperatures located near the dusk and/or dawn meridians. For asymmetric convection electric field patterns, with enhanced flow in either the dusk or dawn sector of the polar cap, a single hot spot should occur in association with the strong convection cell. However, on geomagnetically disturbed days, two strong convection cells can occur, and hence, two hot spots should exist. The hot spot should be detectable when the electric field in the strong convection cell exceeds about 40 mV m -1 . For electric fields of the order of 100 mV m -1 in the convection cell, the ion temperature in the hot spot is greatest at low altitudes, reaching 4000 0 K at 160 km, and decreases with altitude in the F-region. An ionospheric hot spot (or spots) can be expected at all seasons and for a wide range of solar cycle conditions

Development of plant mutation techniques using ion beam

Energy Technology Data Exchange (ETDEWEB)

Kang, Si Yong; Park, In Sook; Song, Hi Sup; Kim, Dong Sub; Kim, Soo Yeon

2006-06-15

It has been reported that ion beam with high liner energy transfer (LET) show relative high biological effectiveness (RBE) and more effective for induced plant mutation than low LET radiation i.e., X-rays, gamma rays and electrons. This study was conducted to induce mutation of in vitro cultured orchid and Chrysanthemum using proton beam of the MC-50 cyclotron (50 MeV) at the Korea Institute of Radiological and Medical Science. In vitro cultured stems of chrysanthemum(cv. Migok) and protocom-like bodies(PLBs) of Dendrobium orchid (cv. Kingianum) placed in the plastic petridish (5.5cm in diameter) with agar medium were irradiated by the proton beam with various dose ranges of 10, 25, 50, 100 Gy under the condition of 5nA beam current. Those irradiated plants were transferred to subculture media and then investigated growth characteristics. Shoot growth of chrysanthemum and orchid was decreased by increase of irradiation dose. In particular, new shoot formation was hardly founded over 50Gy in chrysanthemum and 100 Gy in orchid. Some leaf mutants were observed at the 25 Gy and 50 Gy irradiated PLBs of the orchid. The dry seeds of hot pepper, rapeseed, rice and perilla also were irradiated with proton beam of MC-50 cyclotron and then measured germination rate and early growth of M1 plants compared with gamma ray irradiation.

Development of plant mutation techniques using ion beam

International Nuclear Information System (INIS)

Kang, Si Yong; Park, In Sook; Song, Hi Sup; Kim, Dong Sub; Kim, Soo Yeon

2006-06-01

It has been reported that ion beam with high liner energy transfer (LET) show relative high biological effectiveness (RBE) and more effective for induced plant mutation than low LET radiation i.e., X-rays, gamma rays and electrons. This study was conducted to induce mutation of in vitro cultured orchid and Chrysanthemum using proton beam of the MC-50 cyclotron (50 MeV) at the Korea Institute of Radiological and Medical Science. In vitro cultured stems of chrysanthemum(cv. Migok) and protocom-like bodies(PLBs) of Dendrobium orchid (cv. Kingianum) placed in the plastic petridish (5.5cm in diameter) with agar medium were irradiated by the proton beam with various dose ranges of 10, 25, 50, 100 Gy under the condition of 5nA beam current. Those irradiated plants were transferred to subculture media and then investigated growth characteristics. Shoot growth of chrysanthemum and orchid was decreased by increase of irradiation dose. In particular, new shoot formation was hardly founded over 50Gy in chrysanthemum and 100 Gy in orchid. Some leaf mutants were observed at the 25 Gy and 50 Gy irradiated PLBs of the orchid. The dry seeds of hot pepper, rapeseed, rice and perilla also were irradiated with proton beam of MC-50 cyclotron and then measured germination rate and early growth of M1 plants compared with gamma ray irradiation

Hot-spot analysis to dissect the functional protein-protein interface of a tRNA-modifying enzyme.

Science.gov (United States)

Jakobi, Stephan; Nguyen, Tran Xuan Phong; Debaene, François; Metz, Alexander; Sanglier-Cianférani, Sarah; Reuter, Klaus; Klebe, Gerhard

2014-10-01

Interference with protein-protein interactions of interfaces larger than 1500 Ų by small drug-like molecules is notoriously difficult, particularly if targeting homodimers. The tRNA modifying enzyme Tgt is only functionally active as a homodimer. Thus, blocking Tgt dimerization is a promising strategy for drug therapy as this protein is key to the development of Shigellosis. Our goal was to identify hot-spot residues which, upon mutation, result in a predominantly monomeric state of Tgt. The detailed understanding of the spatial location and stability contribution of the individual interaction hot-spot residues and the plasticity of motifs involved in the interface formation is a crucial prerequisite for the rational identification of drug-like inhibitors addressing the respective dimerization interface. Using computational analyses, we identified hot-spot residues that contribute particularly to dimer stability: a cluster of hydrophobic and aromatic residues as well as several salt bridges. This in silico prediction led to the identification of a promising double mutant, which was validated experimentally. Native nano-ESI mass spectrometry showed that the dimerization of the suggested mutant is largely prevented resulting in a predominantly monomeric state. Crystal structure analysis and enzyme kinetics of the mutant variant further support the evidence for enhanced monomerization and provide first insights into the structural consequences of the dimer destabilization. © 2014 Wiley Periodicals, Inc.

Menopausal Hot Flashes and White Matter Hyperintensities

Science.gov (United States)

Thurston, Rebecca C.; Aizenstein, Howard J.; Derby, Carol A.; Sejdić, Ervin; Maki, Pauline M.

2015-01-01

Objective Hot flashes are the classic menopausal symptom. Emerging data links hot flashes to cardiovascular disease (CVD) risk, yet how hot flashes are related to brain health is poorly understood. We examined the relationship between hot flashes - measured via physiologic monitor and self-report - and white matter hyperintensities (WMH) among midlife women. Methods Twenty midlife women ages 40-60 without clinical CVD, with their uterus and both ovaries, and not taking hormone therapy were recruited. Women underwent 24 hours of ambulatory physiologic and diary hot flash monitoring to quantify hot flashes; magnetic resonance imaging to assess WMH burden; 72 hours of actigraphy and questionnaires to quantify sleep; and a blood draw, questionnaires, and physical measures to quantify demographics and CVD risk factors. Test of a priori hypotheses regarding relations between physiologically-monitored and self-reported wake and sleep hot flashes and WMH were conducted in linear regression models. Results More physiologically-monitored hot flashes during sleep were associated with greater WMH, controlling for age, race, and body mass index [beta(standard error)=.0002 (.0001), p=.03]. Findings persisted controlling for sleep characteristics and additional CVD risk factors. No relations were observed for self-reported hot flashes. Conclusions More physiologically-monitored hot flashes during sleep were associated with greater WMH burden among midlife women free of clinical CVD. Results suggest that relations between hot flashes and CVD risk observed in the periphery may extend to the brain. Future work should consider the unique role of sleep hot flashes in brain health. PMID:26057822

Hot tearing studies in AA5182

Science.gov (United States)

van Haaften, W. M.; Kool, W. H.; Katgerman, L.

2002-10-01

One of the major problems during direct chill (DC) casting is hot tearing. These tears initiate during solidification of the alloy and may run through the entire ingot. To study the hot tearing mechanism, tensile tests were carried out in semisolid state and at low strain rates, and crack propagation was studied in situ by scanning electron microscopy (SEM). These experimentally induced cracks were compared with hot tears developed in an AA5182 ingot during a casting trial in an industrial research facility. Similarities in the microstructure of the tensile test specimens and the hot tears indicate that hot tearing can be simulated by performing tensile tests at semisolid temperatures. The experimental data were compared with existing hot tearing models and it was concluded that the latter are restricted to relatively high liquid fractions because they do not take into account the existence of solid bridges in the crack.

Do scientists trace hot topics?

Science.gov (United States)

Wei, Tian; Li, Menghui; Wu, Chensheng; Yan, Xiao-Yong; Fan, Ying; Di, Zengru; Wu, Jinshan

2013-01-01

Do scientists follow hot topics in their scientific investigations? In this paper, by performing analysis to papers published in the American Physical Society (APS) Physical Review journals, it is found that papers are more likely to be attracted by hot fields, where the hotness of a field is measured by the number of papers belonging to the field. This indicates that scientists generally do follow hot topics. However, there are qualitative differences among scientists from various countries, among research works regarding different number of authors, different number of affiliations and different number of references. These observations could be valuable for policy makers when deciding research funding and also for individual researchers when searching for scientific projects.

'Hot' cognition in major depressive disorder

DEFF Research Database (Denmark)

Miskowiak, Kamilla W; Carvalho, Andre F

2014-01-01

Major depressive disorder (MDD) is associated with significant cognitive dysfunction in both 'hot' (i.e. emotion-laden) and 'cold' (non-emotional) domains. Here we review evidence pertaining to 'hot' cognitive changes in MDD. This systematic review searched the PubMed and PsycInfo computerized......-limbic network with hyper-activity in limbic and ventral prefrontal regions paired with hypo-activity of dorsal prefrontal regions subserve these abnormalities. A cross-talk of 'hot' and 'cold' cognition disturbances in MDD occurs. Disturbances in 'hot cognition' may also contribute to the perpetuation......' cognition deficits in healthy relatives of patients with MDD. Taken together, these findings suggest that abnormalities in 'hot' cognition may constitute a candidate neurocognitive endophenotype for depression....

Electrolytic recovery of mercury enriched in isotopic abundance

Science.gov (United States)

Grossman, Mark W.

1991-01-01

The present invention is directed to a method of electrolytically extracting liquid mercury from HgO or Hg.sub.2 Cl.sub.2. Additionally there are disclosed two related techniques associated with the present invention, namely (1) a technique for selectively removing product from different regions of a long photochemical reactor (photoreactor) and (2) a method of accurately measuring the total quantity of mercury formed as either HgO or Hg.sub.2 Cl.sub.2.

A review on hot tearing of magnesium alloys

Directory of Open Access Journals (Sweden)

Jiangfeng Song

2016-09-01

Full Text Available Hot tearing is often a major casting defect in magnesium alloys and has a significant impact on the quality of their casting products. Hot tearing of magnesium alloys is a complex solidification phenomenon which is still not fully understood, it is of great importance to investigate the hot tearing behaviour of magnesium alloys. This review attempts to summarize the investigations on hot tearing of magnesium alloys over the past decades. The hot tearing criteria including recently developed Kou's criterion are summarized and compared. The numeric simulation and assessing methods of hot tearing, factors influencing hot tearing, and hot tearing susceptibility (HTS of magnesium alloys are discussed.

Ninth international symposium on hot atom chemistry. Abstracts

International Nuclear Information System (INIS)

1977-01-01

Abstracts of the papers presented at the Symposium are compiled. The topics considered were chemical dynamics of high energy reactions, hot atom chemistry in organic compounds of tritium, nitrogen, oxygen, and halogens, theory and chemical dynamics of hot atom reactions as determined by beam studies, solid state reactions of recoil atoms and implanted ions, hot atom chemistry in energy-related research, hot atom chemistry in inorganic compounds of oxygen and tritium, hot positronium chemistry, applied hot atom chemistry in labelling, chemical effects of radioactive decay, decay-induced reactions and excitation labelling, physical methods in hot atom chemistry, and hot atom reactions in radiation and stratospheric chemistry

Hydrotreating and hydrocracking of Athabasca bitumen derived heavy gas oils using NiMo catalyst supported on titania modified alumina

Energy Technology Data Exchange (ETDEWEB)

Ferdous, D.; Bakhshi, N.N.; Dalai, A.K.; Adjaye, J. [Saskatchewan Univ., Saskatoon, SK (Canada). Dept. of Chemical Engineering, Catalysis and Chemical Reaction Engineering Laboratories]|[Syncrude Canada Ltd., Edmonton, AB (Canada)

2006-07-01

Different NiMo catalysts supported on titania modified Al{sub 2}O{sub 3} were synthesized and characterized in an effort to study the hydrodenitrigenation (HDN) and hydrodesulfurization (HDS) of different gas oils derived from Athabasca bitumen. The Al{sub x}O{sub 3} supports were modified by incorporating up to 9 wt per cent titanium (Ti). All modified supports as well as fresh and spent catalysts were characterized by BET surface area, pore volume and pore diameter, XRD, TPR, TPD and SEM. A trickle-bed reactor using 3 different gas oils from the Athabasca bitumen was used to test the initial activity of these catalysts. The 3 oils were light gas oil (LGO), heavy gas oil (HGO) and blended gas oil having 50 per cent LGO and 50 per cent HGO. The study showed that nitrogen conversion increased for all the gas oils when Ti was incorporated into the alumina. With an increase in Ti concentrations from 0 to 6 wt per cent, nitrogen conversion increased from 57-69.5 wt per cent, 75-80.2 wt per cent, 83-91.5 wt per cent and for LGO, HGO and blended, respectively. Nearly 86 wt per cent sulphur conversion was obtained for all Ti concentrations for LGO, while HGO and blended sulphur conversions were in the range of 96-97 wt per cent. Detailed hydrotreating and hydrocracking of HGO was then performed using the 6 wt per cent Ti modified catalyst because it achieved the maximum nitrogen conversion. This paper also presented the temperature, pressure and liquid hourly space velocity for this catalyst along with the maximum nitrogen and sulphur conversions. Results were compared with those of commercial catalysts. tabs., figs.

Hot Fuel Examination Facility (HFEF)

Data.gov (United States)

Federal Laboratory Consortium — The Hot Fuel Examination Facility (HFEF) is one of the largest hot cells dedicated to radioactive materials research at Idaho National Laboratory (INL). The nation's...

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

NARCIS (Netherlands)

Kemp, S.; Ligtenberg, M. J.; van Geel, B. M.; Barth, P. G.; Wolterman, R. A.; Schoute, F.; Sarde, C. O.; Mandel, J. L.; van Oost, B. A.; Bolhuis, P. A.

1994-01-01

The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Science.gov (United States)

Zimowski, Janusz G; Massalska, Diana; Holding, Mariola; Jadczak, Sylwia; Fidziańska, Elżbieta; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Kamińska, Anna; Zaremba, Jacek

2014-01-01

Duchenne/Becker muscular dystrophy (DMD/BMD) is a recessive, X-linked disorder caused by a mutation in the dystrophin gene. Deletions account for approximately 60-65% of mutations, duplications for 5-10%. The remaining cases are mainly point mutations. According to Monaco theory clinical form of the disease depends on maintaining or disrupting the reading frame. The purpose of the study was to determine frequency and location of deletions and duplications in the dystrophin gene, to determine the compliance between maintaining/disrupting the reading frame and clinical form of the disease and to check the effectiveness of MLPA (multiplex ligation-dependent probe amplification) in the detection of these mutations in hemizygous patients and heterozygous female carriers. The material is composed of combined results of molecular diagnosis carried out in years 2009-2012 in 180 unrelated patients referred with the diagnosis of DMD/BMD tested by use of MLPA. We identified 110 deletions, 22 duplication (in one patient two different duplications were detected) and 2 point mutations. Deletions involved mainly exons 45-54 and 3-21, whereas most duplications involved exons 3-18. The compliance with Monaco theory was 95% for deletions and 76% for duplications. Most of mutations in the dystrophin gene were localized in the hot spots - different for deletions and duplications. MLPA enabled their quick identification, exact localization and determination whether or not they maintained or disrupted the reading frame. MLPA was also effective in detection of deletions and duplications in female carriers. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Measuring hot flash phenomenonology using ambulatory prospective digital diaries

Science.gov (United States)

Fisher, William I.; Thurston, Rebecca C.

2016-01-01

Objective This study provides the description, protocol, and results from a novel prospective ambulatory digital hot flash phenomenon diary. Methods This study included 152 midlife women with daily hot flashes who completed an ambulatory electronic hot flash diary continuously for the waking hours of 3 consecutive days. In this diary, women recorded their hot flashes and accompanying characteristics and associations as the hot flashes occurred. Results Self-reported hot flash severity on the digital diaries indicated that the majority of hot flashes were rated as mild (41.3%) or moderate (43.7%). Severe (13.1%) and very severe (1.8%) hot flashes were less common. Hot flash bother ratings were rated as mild (43%), or moderate (33.5%), with fewer hot flashes reported bothersome (17.5%) or very bothersome (6%). The majority of hot flashes were reported as occurring on the on the face (78.9%), neck (74.7%), and chest (61.3%). Prickly skin was reported concurrently with 32% of hot flashes, 7% with anxiety and 5% with nausea. A novel finding, 38% of hot flashes were accompanied by a premonitory aura. Conclusion A prospective electronic digital hot flash diary allows for a more precise quantitation of hot flashes while overcoming many of the limitations of commonly employed retrospective questionnaires and paper diaries. Unique insights into the phenomenology, loci and associated characteristics of hot flashes were obtained using this device. The digital hot flash phenomenology diary is recommended for future ambulatory studies of hot flashes as a prospective measure of the hot flash experience. PMID:27404030

Computational prediction of protein hot spot residues.

Science.gov (United States)

Morrow, John Kenneth; Zhang, Shuxing

2012-01-01

Most biological processes involve multiple proteins interacting with each other. It has been recently discovered that certain residues in these protein-protein interactions, which are called hot spots, contribute more significantly to binding affinity than others. Hot spot residues have unique and diverse energetic properties that make them challenging yet important targets in the modulation of protein-protein complexes. Design of therapeutic agents that interact with hot spot residues has proven to be a valid methodology in disrupting unwanted protein-protein interactions. Using biological methods to determine which residues are hot spots can be costly and time consuming. Recent advances in computational approaches to predict hot spots have incorporated a myriad of features, and have shown increasing predictive successes. Here we review the state of knowledge around protein-protein interactions, hot spots, and give an overview of multiple in silico prediction techniques of hot spot residues.

Uncertainty analysis for hot channel

International Nuclear Information System (INIS)

Panka, I.; Kereszturi, A.

2006-01-01

The fulfillment of the safety analysis acceptance criteria is usually evaluated by separate hot channel calculations using the results of neutronic or/and thermo hydraulic system calculations. In case of an ATWS event (inadvertent withdrawal of control assembly), according to the analysis, a number of fuel rods are experiencing DNB for a longer time and must be regarded as failed. Their number must be determined for a further evaluation of the radiological consequences. In the deterministic approach, the global power history must be multiplied by different hot channel factors (kx) taking into account the radial power peaking factors for each fuel pin. If DNB occurs it is necessary to perform a few number of hot channel calculations to determine the limiting kx leading just to DNB and fuel failure (the conservative DNBR limit is 1.33). Knowing the pin power distribution from the core design calculation, the number of failed fuel pins can be calculated. The above procedure can be performed by conservative assumptions (e.g. conservative input parameters in the hot channel calculations), as well. In case of hot channel uncertainty analysis, the relevant input parameters (k x, mass flow, inlet temperature of the coolant, pin average burnup, initial gap size, selection of power history influencing the gap conductance value) of hot channel calculations and the DNBR limit are varied considering the respective uncertainties. An uncertainty analysis methodology was elaborated combining the response surface method with the one sided tolerance limit method of Wilks. The results of deterministic and uncertainty hot channel calculations are compared regarding to the number of failed fuel rods, max. temperature of the clad surface and max. temperature of the fuel (Authors)

3-D thermoelastic analysis of the straight section of a PWR hot leg containing a hot spot using BEM

International Nuclear Information System (INIS)

Bains, R.S.; Sugimoto, J.

1995-01-01

A 3-D steady state thermoelastic analysis using the boundary element method has been successfully employed to investigate the structural response of the straight section of a pressurised water reactor hot leg containing a localised hot spot. With the present severe accident thermal boundary conditions, the analysis produces a nonuniform expansion across the hot leg thickness. This expansion was most predominant on the inner surface, especially at the hot spot location where surface swelling was obtained. Furthermore, the hot spot generates large tangential and axial tensile stresses on the outer surface. These could be detrimental to the integrity of the hot leg by acting as potential sites of crack initiation and subsequent propagation. (orig.)

Hot-pressing steatite bodies

International Nuclear Information System (INIS)

Aparicio Arroyo, E.

1967-01-01

Requirements for some special nuclear engineering ceramic shapes are: big size, impervious, dimensional accuracy and good mechanical and dielectric properties. Limitations of te conventional methods and advantages of te hot pressing techniques for the manufacturing of these shapes are discussed. Hot pressing characteristics of a certain steatite powder are studied. Occurrence of an optimum densification temperature just above the tale decomposition range is found. Experimental data show that the height/diameter ratio of the specimen has no effect on the sintering conditions. Increasing darkness from the graphite mould is detected above the optimum temperature. The hot-pressed steatite is compared with a fired dry-pressed sample of the same composition. (Author) 13 refs

HOT 2017

DEFF Research Database (Denmark)

Hannibal, Sara Stefansen

HOT er en kvalitativ undersøgelse, der hvert år diskuterer og undersøger en lille udvalgt skare af danskkyndige fagpersoners bud på, hvad de er optagede af på literacyområdet her og nu – altså hvilke emner, de vil vurdere som aktuelle at forholde sig til i deres nuværende praksis.......HOT er en kvalitativ undersøgelse, der hvert år diskuterer og undersøger en lille udvalgt skare af danskkyndige fagpersoners bud på, hvad de er optagede af på literacyområdet her og nu – altså hvilke emner, de vil vurdere som aktuelle at forholde sig til i deres nuværende praksis....

[History of hot spring bath treatment in China].

Science.gov (United States)

Hao, Wanpeng; Wang, Xiaojun; Xiang, Yinghong; Gu Li, A Man; Li, Ming; Zhang, Xin

2011-07-01

As early as the 7th century B.C. (Western Zhou Dynasty), there is a recording as 'spring which contains sulfur could treat disease' on the Wentang Stele written by WANG Bao. Wenquan Fu written by ZHANG Heng in the Easten Han Dynasty also mentioned hot spring bath treatment. The distribution of hot springs in China has been summarized by LI Daoyuan in the Northern Wei Dynasty in his Shuijingzhu which recorded hot springs in 41 places and interpreted the definition of hot spring. Bencao Shiyi (by CHEN Cangqi, Tang Dynasty) discussed the formation of and indications for hot springs. HU Zai in the Song Dynasty pointed out distinguishing hot springs according to water quality in his book Yuyin Conghua. TANG Shenwei in the Song Dynasty noted in Jingshi Zhenglei Beiji Bencao that hot spring bath treatment should be combined with diet. Shiwu Bencao (Ming Dynasty) classified hot springs into sulfur springs, arsenicum springs, cinnabar springs, aluminite springs, etc. and pointed out their individual indications. Geologists did not start the work on distribution and water quality analysis of hot springs until the first half of the 20th century. There are 972 hot springs in Wenquan Jiyao (written by geologist ZHANG Hongzhao and published in 1956). In July 1982, the First National Geothermal Conference was held and it reported that there were more than 2600 hot springs in China. Since the second half of the 20th century, hot spring sanatoriums and rehabilitation centers have been established, which promoted the development of hot spring bath treatment.

Hot workability of aluminium alloys

International Nuclear Information System (INIS)

Yoo, Yeon Chul; Oh, Kyung Jin

1986-01-01

Hot Workability of aluminium alloys, 2024, 6061 and 7075, has been studied by hot torsion tests at temperatures from 320 to 515 deg C and at strain rates from 1.26 x 10 -3 to 5.71 x 10 -3 sec -1 . Hot working condition of these aluminium alloys was determined quantitatively from the constitutive equations obtained from flow stress curves in torsion. Experimental data of the logarith of the Zener-Hollomonn parameter showed good linear relationships to the logarith of sinh(ασ-bar)

Hot dry rock heat mining

International Nuclear Information System (INIS)

Duchane, D.V.

1992-01-01

Geothermal energy utilizing fluids from natural sources is currently exploited on a commercial scale at sites around the world. A much greater geothermal resource exists, however, in the form of hot rock at depth which is essentially dry. This hot dry rock (HDR) resource is found almost everywhere, but the depth at which usefully high temperatures are reached varies from place to place. The technology to mine the thermal energy from HDR has been under development for a number of years. Using techniques adapted from the petroleum industry, water is pumped at high pressure down an injection well to a region of usefully hot rock. The pressure forces open natural joints to form a reservoir consisting of a small amount of water dispensed in a large volume of hot rock. This reservoir is tapped by second well located at some distance from the first, and the heated water is brought to the surface where its thermal energy is extracted. The same water is then recirculated to mine more heat. Economic studies have indicated that it may be possible to produce electricity at competitive prices today in regions where hot rock is found relatively close to the surface

Mercury adsorption characteristics of HBr-modified fly ash in an entrained-flow reactor.

Science.gov (United States)

Zhang, Yongsheng; Zhao, Lilin; Guo, Ruitao; Song, Na; Wang, Jiawei; Cao, Yan; Orndorff, William; Pan, Wei-ping

2015-07-01

In this study, the mercury adsorption characteristics of HBr-modified fly ash in an entrained-flow reactor were investigated through thermal decomposition methods. The results show that the mercury adsorption performance of the HBr-modified fly ash was enhanced significantly. The mercury species adsorbed by unmodified fly ash were HgCl2, HgS and HgO. The mercury adsorbed by HBr-modified fly ash, in the entrained-flow reactor, existed in two forms, HgBr2 and HgO, and the HBr was the dominant factor promoting oxidation of elemental mercury in the entrained-flow reactor. In the current study, the concentration of HgBr2 and HgO in ash from the fine ash vessel was 4.6 times greater than for ash from the coarse ash vessel. The fine ash had better mercury adsorption performance than coarse ash, which is most likely due to the higher specific surface area and longer residence time. Copyright © 2015. Published by Elsevier B.V.

Mercury content in Hot Springs

Energy Technology Data Exchange (ETDEWEB)

Nakagawa, R

1974-01-01

A method of determination of mercury in hot spring waters by flameless atomic absorption spectrophotometry is described. Further, the mercury content and the chemical behavior of the elementary mercury in hot springs are described. Sulfide and iodide ions interfered with the determination of mercury by the reduction-vapor phase technique. These interferences could, however, be minimized by the addition of potassium permanganate. Waters collected from 55 hot springs were found to contain up to 26.0 ppb mercury. High concentrations of mercury have been found in waters from Shimoburo Springs, Aomori (10.0 ppb), Osorezan Springs, Aomori (1.3 approximately 18.8 ppb), Gosyogake Springs, Akita (26.0 ppb), Manza Springs, Gunma (0.30 approximately 19.5 ppb) and Kusatu Springs, Gunma (1.70 approximately 4.50 ppb). These hot springs were acid waters containing a relatively high quantity of chloride or sulfate.

Disturbance Impacts on Thermal Hot Spots and Hot Moments at the Peatland-Atmosphere Interface

Science.gov (United States)

Leonard, R. M.; Kettridge, N.; Devito, K. J.; Petrone, R. M.; Mendoza, C. A.; Waddington, J. M.; Krause, S.

2018-01-01

Soil-surface temperature acts as a master variable driving nonlinear terrestrial ecohydrological, biogeochemical, and micrometeorological processes, inducing short-lived or spatially isolated extremes across heterogeneous landscape surfaces. However, subcanopy soil-surface temperatures have been, to date, characterized through isolated, spatially discrete measurements. Using spatially complex forested northern peatlands as an exemplar ecosystem, we explore the high-resolution spatiotemporal thermal behavior of this critical interface and its response to disturbances by using Fiber-Optic Distributed Temperature Sensing. Soil-surface thermal patterning was identified from 1.9 million temperature measurements under undisturbed, trees removed and vascular subcanopy removed conditions. Removing layers of the structurally diverse vegetation canopy not only increased mean temperatures but it shifted the spatial and temporal distribution, range, and longevity of thermal hot spots and hot moments. We argue that linking hot spots and/or hot moments with spatially variable ecosystem processes and feedbacks is key for predicting ecosystem function and resilience.

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

Science.gov (United States)

Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

2016-07-01

Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

VARIABILITY IN HOT CARBON-DOMINATED ATMOSPHERE (HOT DQ) WHITE DWARFS: RAPID ROTATION?

Energy Technology Data Exchange (ETDEWEB)

Williams, Kurtis A.; Bierwagen, Michael [Department of Physics and Astrophysics, Texas A and M University-Commerce, P.O. Box 3011, Commerce, TX, 75429 (United States); Montgomery, M. H.; Winget, D. E.; Falcon, Ross E., E-mail: Kurtis.Williams@tamuc.edu [Department of Astronomy, University of Texas, 1 University Station C1400, Austin, TX, 78712 (United States)

2016-01-20

Hot white dwarfs (WDs) with carbon-dominated atmospheres (hot DQs) are a cryptic class of WDs. In addition to their deficiency of hydrogen and helium, most of these stars are highly magnetic, and a large fraction vary in luminosity. This variability has been ascribed to nonradial pulsations, but increasing data call this explanation into question. We present studies of short-term variability in seven hot DQ WDs. Three (SDSS J1426+5752, SDSS J2200−0741, and SDSS J2348−0942) were known to be variable. Their photometric modulations are coherent over at least two years, and we find no evidence for variability at frequencies that are not harmonics. We present the first time-series photometry for three additional hot DQs (SDSS J0236−0734, SDSS J1402+3818, and SDSS J1615+4543); none are observed to vary, but the signal-to-noise is low. Finally, we present high speed photometry for SDSS J0005−1002, known to exhibit a 2.1-day photometric variation; we do not observe any short-term variability. Monoperiodicity is rare among pulsating WDs, so we contemplate whether the photometric variability is due to rotation rather than pulsations; similar hypotheses have been raised by other researchers. If the variability is due to rotation, then hot DQ WDs as a class contain many rapid rotators. Given the lack of companions to these stars, the origin of any fast rotation is unclear—both massive progenitor stars and double degenerate merger remnants are possibilities. We end with suggestions of future work that would best clarify the nature of these rare, intriguing objects.

Mechanical shielded hot cell

International Nuclear Information System (INIS)

Higgy, H.R.; Abdel-Rassoul, A.A.

1983-01-01

A plan to erect a mechanical shielded hot cell in the process hall of the Radiochemical Laboratory at Inchas is described. The hot cell is designed for safe handling of spent fuel bundles, from the Inchas reactor, and for dismantling and cutting the fuel rods in preparation for subsequent treatment. The biological shielding allows for the safe handling of a total radioactivity level up to 10,000 MeV-Ci. The hot cell consists of an α-tight stainless-steel box, connected to a γ-shielded SAS, through an air-lock containing a movable carriage. The α-box is tightly connected with six dry-storage cavities for adequate storage of the spent fuel bundles. Both the α-box, with the dry-storage cavities, and the SAS are surrounded by 200-mm thick biological lead shielding. The α-box is equipped with two master-slave manipulators, a lead-glass window, a monorail crane and Padirac and Minirag systems. The SAS is equipped with a lead-glass window, tong manipulator, a shielded pit and a mechanism for the entry of the spent fuel bundle. The hot cell is served by adequate ventilation and monitoring systems. (author)

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

Science.gov (United States)

Fedyna, Alison; Drayna, Dennis; Kang, Changsoo

2010-01-01

Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals carrying this mutation were analyzed in an effort to distinguish whether these arise from repeated mutation at the same site, or whether they represent a founder mutation with a single origin. Results show that all 12 chromosomes carrying this mutation share a common haplotype in this region, indicating it is a founder mutation. Further analysis estimated the age of this allele to be ~572 generations. Construction of a cladogram tracing the mutation through our study sample also supports the founder mutation hypothesis. PMID:20944643

Sanitary hot water; Eau chaude sanitaire

Energy Technology Data Exchange (ETDEWEB)

NONE

2004-07-01

Cegibat, the information-recommendation agency of Gaz de France for building engineering professionals, has organized this conference meeting on sanitary hot water to present the solutions proposed by Gaz de France to meet its clients requirements in terms of water quality, comfort, energy conservation and respect of the environment: quantitative aspects of the hot water needs, qualitative aspects, presentation of the Dolce Vita offer for residential buildings, gas water heaters and boilers, combined solar-thermal/natural gas solutions, key-specifications of hot water distribution systems, testimony: implementation of a gas hot water reservoir and two accumulation boilers in an apartment building for young workers. (J.S.)

OUT Success Stories: Solar Hot Water Technology

International Nuclear Information System (INIS)

Clyne, R.

2000-01-01

Solar hot water technology was made great strides in the past two decades. Every home, commercial building, and industrial facility requires hot water. DOE has helped to develop reliable and durable solar hot water systems. For industrial applications, the growth potential lies in large-scale systems, using flat-plate and trough-type collectors. Flat-plate collectors are commonly used in residential hot water systems and can be integrated into the architectural design of the building

OUT Success Stories: Solar Hot Water Technology

Science.gov (United States)

Clyne, R.

2000-08-01

Solar hot water technology was made great strides in the past two decades. Every home, commercial building, and industrial facility requires hot water. DOE has helped to develop reliable and durable solar hot water systems. For industrial applications, the growth potential lies in large-scale systems, using flat-plate and trough-type collectors. Flat-plate collectors are commonly used in residential hot water systems and can be integrated into the architectural design of the building.

Hipoglicemiantes orales para el tratamiento de la diabetes mellitus gestacional: Revisión sistemática de la literatura

OpenAIRE

Pavlovic B,Milenko; Carvajal C,Jorge

2013-01-01

Antecedentes: La diabetes mellitus gestacional (DMG) se asocia a mayor riesgo materno y perinatal. El manejo habitual de ésta patología es la dieta, el ejercicio y la insulina. Los hipoglicemiantes orales (HGO) son una terapia emergente para el tratamiento de la DMG. Objetivos: Realizar una revisión sistemática de toda la evidencia tipo I disponible acerca del uso de HGO para tratamiento de DMG y realizar un metaanálisis de los resultados maternos y perinatales significativos. Resultados: Die...

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Science.gov (United States)

Park, Walter D; O'Brien, John F; Lundquist, Patrick A; Kraft, Daniel L; Vockley, Cate Walsh; Karnes, Pamela S; Patterson, Marc C; Snow, Karen

2003-10-01

The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport. We describe mutation analysis on samples from 143 unrelated affected NPC patients using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively. These methods are robust, sensitive, and do not require any specialized laboratory equipment. Analyses identified two NPC1 mutations for 115 (80.4%) patients, one NPC1 mutation for 10 (7.0%) patients, two NPC2 mutations for five (3.5%) patients, one NPC2 mutation for one (0.7%) patient, and no mutations for 12 (8.4%) patients. Thus, mutations were identified on 251 of 286 (88%) disease alleles, including 121 different mutations (114 in NPC1 and seven in NPC2), 58 of which are previously unreported. The most common NPC1 mutation, I1061T, was detected on 18% of NPC alleles. Other NPC1 mutations were mostly private, missense mutations located throughout the gene with clustering in the cysteine-rich luminal domain. Correlation with biochemical data suggests classification of several mutations as severe and others as moderate or variable. The region between amino acids 1038 and 1253, which shares 35% identity with Patched 1, appears to be a hot spot for mutations. Additionally, a high percentage of mutations were located at amino acids identical to the NPC1 homolog, NPC1L1. Biochemical complementation analysis of cases negative for mutations revealed a high percentage of equivocal results where the complementation group appeared to be non-NPC1 and non-NPC2. This raises the possibilities of an additional NPC complementation group(s) or non-specificity of the biochemical testing for NPC. These caveats must be considered when offering mutation testing as a clinical service. Copyright 2003 Wiley-Liss, Inc.

Investigation of hot air balloon fatalities.

Science.gov (United States)

McConnell, T S; Smialek, J E; Capron, R G

1985-04-01

The rising popularity of the sport of hot air ballooning has been accompanied by several recent incidents, both in this country and other parts of the world, where mechanical defects and the improper operation of balloons have resulted in several fatalities. A study was conducted to identify the location and frequency of hot air ballooning accidents. Furthermore, the study attempted to identify those accidents that were the result of improper handling on the part of the balloon operators and those that were related to specific defects in the construction of the balloon. This paper presents a background of the sport of hot air ballooning, together with an analysis of the construction of a typical hot air balloon, pointing out the specific areas where defects may occur that could result in a potential fatal balloon crash. Specific attention is given to the two recent balloon crashes that occurred in Albuquerque, N.M., hot air balloon capital of the world, and that resulted in multiple fatalities.

Possibilities of mercury removal in the dry flue gas cleaning lines of solid waste incineration units.

Science.gov (United States)

Svoboda, Karel; Hartman, Miloslav; Šyc, Michal; Pohořelý, Michael; Kameníková, Petra; Jeremiáš, Michal; Durda, Tomáš

2016-01-15

Dry methods of the flue gas cleaning (for HCl and SO2 removal) are useful particularly in smaller solid waste incineration units. The amount and forms of mercury emissions depend on waste (fuel) composition, content of mercury and chlorine and on the entire process of the flue gas cleaning. In the case of high HCl/total Hg molar ratio in the flue gas, the majority (usually 70-90%) of mercury is present in the form of HgCl2 and a smaller amount in the form of mercury vapors at higher temperatures. Removal of both main forms of mercury from the flue gas is dependent on chemical reactions and sorption processes at the temperatures below approx. 340 °C. Significant part of HgCl2 and a small part of elemental Hg vapors can be adsorbed on fly ash and solid particle in the air pollution control (APC) processes, which are removed in dust filters. Injection of non-impregnated active carbon (AC) or activated lignite coke particles is able to remove mainly the oxidized Hg(2+) compounds. Vapors of metallic Hg(o) are adsorbed relatively weakly. Much better chemisorption of Hg(o) together with higher sorbent capacity is achieved by AC-based sorbents impregnated with sulfur, alkali poly-sulfides, ferric chloride, etc. Inorganic sorbents with the same or similar chemical impregnation are also applicable for deeper Hg(o) removal (over 85%). SCR catalysts convert part of Hg(o) into oxidized compounds (HgO, HgCl2, etc.) contributing to more efficient Hg removal, but excess of NH3 has a negative effect. Both forms, elemental Hg(o) and HgCl2, can be converted into HgS particles by reacting with droplets/aerosol of poly-sulfides solutions/solids in flue gas. Mercury captured in the form of water insoluble HgS is more advantageous in the disposal of solid waste from APC processes. Four selected options of the dry flue gas cleaning with mercury removal are analyzed, assessed and compared (in terms of efficiency of Hg-emission reduction and costs) with wet methods and retrofits for more

40 CFR 68.85 - Hot work permit.

Science.gov (United States)

2010-07-01

... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) CHEMICAL ACCIDENT PREVENTION PROVISIONS Program 3 Prevention Program § 68.85 Hot work permit. (a) The owner or operator shall issue a hot work permit for hot work operations conducted on or near a covered process. (b...

Synthesis, characterization and performance of NiMo catalysts supported on titania modified alumina for the hydroprocessing of different gas oils derived from Athabasca bitumen

Energy Technology Data Exchange (ETDEWEB)

Ferdous, D.; Bakhshi, N.N.; Dalai, A.K. [Catalysis and Chemical Reactor Engineering Laboratories, Department of Chemical Engineering, University of Saskatchewan, 57 Campus Drive, Saskatoon, Sask. (Canada); Adjaye, J. [Syncrude Canada Ltd., Edmonton Research Center, No. 9421, 17th Avenue, Edmonton, Alta. (Canada)

2007-03-08

In this work, a series of NiMo/Al{sub 2}O{sub 3} catalyst was prepared using different Al{sub 2}O{sub 3} supports modified by titania (0-9 wt%). All modified supports and fresh catalysts were characterized by BET surface area, pore volume and pore diameter measurement, TPR, TPD, XRD, FTIR and Raman spectroscopy analyses. The initial activity of these catalysts were tested in a trickle-bed reactor using three different gas oils such as light gas oil (LGO), blended gas oil (blended: 50% LGO and 50% HGO) and heavy gas oil (HGO), all derived from Athabasca bitumen. Little structural change in alumina was observed with the incorporation of titania. XRD analysis showed the well dispersion of Ni and Mo on the support. Titania in alumina increased the formation of polymolybdenum oxide on the catalyst as evident from TPR and Raman analyses. Weak-intermediate-strong acid sites on the catalyst were observed at all titania concentrations. The Lewis and Bronsted acidity on the catalyst surface increased with the increase in titania concentration from 0 to 9 wt%. Nitrogen conversion increased from 57 to 71 wt%, from 83 to 93 wt% and from 75 to 80 wt% for LGO, blended and HGO, respectively and also sulfur conversion of LGO increased from 86 to 92 wt% when titania concentration was increased from 0 to 9 wt%. For blended and HGO, sulfur conversion was in the range 96-99 wt% at all titania concentrations. (author)

Hot ductility of medium carbon steel with vanadium

International Nuclear Information System (INIS)

Lee, Chang-Hoon; Park, Jun-Young; Chung, JunHo; Park, Dae-Bum; Jang, Jin-Young; Huh, Sungyul; Ju Kim, Sung; Kang, Jun-Yun; Moon, Joonoh; Lee, Tae-Ho

2016-01-01

Hot ductility of medium carbon steel containing 0.52 wt% of carbon and 0.11 wt% of vanadium was investigated using a hot tensile test performed up to fracture. The hot ductility was evaluated by measuring the reduction of area of the fractured specimens, which were strained at a variety of test temperatures in a range of 600–1100 °C at a strain rate of 2×10"−"3/s. The hot ductility was excellent in a temperature range of 950–1100 °C, followed by a decrease of the hot ductility below 950 °C. The hot ductility continued to drop as the temperature was lowered to 600 °C. The loss of hot ductility in a temperature range of 800–950 °C, which is above the Ae_3 temperature, was due to V(C,N) precipitation at austenite grain boundaries. The further decline of hot ductility between 700 °C and 750 °C resulted from the transformation of ferrite films decorating austenite grain boundaries. The hot ductility continued to decrease at 650 °C or less, owing to ferrite films and the pearlite matrix, which is harder than ferrite. The pearlite was transformed from austenite due to relatively high carbon content.

Theory of hot particle stability

International Nuclear Information System (INIS)

Berk, H.L.; Wong, H.V.; Tsang, K.T.

1986-10-01

The investigation of stabilization of hot particle drift reversed systems to low frequency modes has been extended to arbitrary hot beta, β/sub H/ for systems that have unfavorable field line curvature. We consider steep profile equilibria where the thickness of the pressure drop, Δ, is less than plasma radius, r/sub p/. The analysis describes layer modes which have mΔ/r/sub p/ 2/3. When robust stability conditions are fulfilled, the hot particles will have their axial bounce frequency less than their grad-B drift frequency. This allows for a low bounce frequency expansion to describe the axial dependence of the magnetic compressional response

Deletion mutations of bacteriophage

International Nuclear Information System (INIS)

Ryo, Yeikou

1975-01-01

Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

The use of radio-release methods for the determination of air pollutants

International Nuclear Information System (INIS)

Klehr, E.H.; Toelgyessy, J.; Pruzinec, J.; Naoum, M.M.

1978-01-01

Investigations on the applicability of radio-release methods to the determination of air pollutants are summarized. In any case kryptonated substances were used (SiO 2 for HF, H 2 O vapor, C 6 H 6 and CCl 4 ; SeS 2 for Hg; hydrochinon for O 3 and SO 2 ; and hopcalite, PdCl 2 , S 2 O 5 and HgO for CO). Positive results were obtained for HF, Hg, O 3 , CO (with kryptonated PdCl 2 and HgO), H 2 O vapor and SO 2

An ALARA-conscious hot particle control program

International Nuclear Information System (INIS)

Doolittle, W.W.; Bredvad, R.S.; Bevelacqua, J.J.

1992-01-01

In 1989 approximately twenty-five percent of the radiation dose received by the Point Beach Nuclear Plant (PBNP) Health Physics group was due to its hot particle control program. The Health Physics group initiated a review of the program with the objective of decreasing the dose expenditure for hot particle control while maintaining a high standard for hot particle detection and control. In this paper the methods and results of this evaluation are described. The components of the hot particle control program, rules of thumb, and radionuclide composition at PBNP are presented

Calreticulin Mutations in Myeloproliferative Neoplasms

Directory of Open Access Journals (Sweden)

Noa Lavi

2014-10-01

Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

21 CFR 880.6085 - Hot/cold water bottle.

Science.gov (United States)

2010-04-01

... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Hot/cold water bottle. 880.6085 Section 880.6085... Devices § 880.6085 Hot/cold water bottle. (a) Identification. A hot/cold water bottle is a device intended for medical purposes that is in the form of a container intended to be filled with hot or cold water...

'Hot' particles in the atmosphere (Vilnius, 1986)

International Nuclear Information System (INIS)

Lujanas, V.; Shpirkauskaite, N.

1992-01-01

After the Chernobyl accident in the atmosphere above Vilnius the alpha-and beta- 'hot' particles were discovered. The amount of particles and their size were measured by the alpha-radiography. After the exposition of nuclear plates the 'auroras' of the beta hot particles were of the size 0.37-22.2 μm. The change in time of the beta- 'hot' particles amount in the ground level air from the 25th of April to the 9th of May, 1986 was given. The amount of this particles deposited in the adult man respiratory tract was calculated. The energy of the discovered 8 'hot' alpha-particles ranged from 4.2 to 6.6 MeV. All the samples in which alpha- 'hot' particles found were taken in anticyclone conditions. (author). 1 tab., 1 ref

Ormen Lange hot tap - a world record

Energy Technology Data Exchange (ETDEWEB)

Apeland, Kjell Edvard

2010-07-01

For the last 10 years Statoil have been developing a new concept for performing subsea Hot Tap operations remotely controlled. The system was first used offshore in 2008 during a partly diver assisted operation, connecting the Tampen Link pipeline to the Statfjord Intrafield pipeline. In July 2009, the Hot Tap System successfully performed two remotely controlled Hot Taps, on a world record depth of 860 meters on the Ormen Lange field operated by Shell. The Hot Tap technology enables existing pipeline architecture to be modified, without interfering with the current production. Most of the technology is depth independent and the system is currently qualified to 1000 meter depth. Phase II of this project which involves development and construction of a retrofit Tee, thus enabling installation and welding of a Tee on an unprepared pipeline is well underway. This presentation will describe experiences from the development of the Remote Hot Tap system and give an overview of the offshore operations leading to the conclusion of the world's deepest Hot Taps. (Author)

Simulation studies on stability of hot electron plasma

International Nuclear Information System (INIS)

Ohsawa, Yukiharu

1985-01-01

Stability of a hot electron plasma in an NBT(EBT)-like geometry is studied by using a 2-1/2 dimensional relativistic, electromagnetic particle code. For the low-frequency hot electron interchange mode, comparison of the simulation results with the analytical predictions of linear stability theory show fairly good agreement with the magnitude of the growth rates calculated without hot electron finite Larmor radius effects. Strong stabilizing effects by finite Larmor radius of the hot electrons are observed for short wavelength modes. As for the high-frequency hot electron interchange mode, there is a discrepancy between the simulation results and the theory. The high-frequency instability is not observed though a parameter regime is chosen in which the high-frequency hot electron interchange mode is theoretically predicted to grow. Strong cross-field diffusion in a poloidal direction of the hot electrons might explain the stability. Each particle has a magnetic drift velocity, and the speed of the magnetic drift is proportional to the kinetic energy of each particle. Hence, if the particles have high temperature, the spread of the magnetic drift velocity is large. This causes a strong cross-field diffusion of the hot electrons. In the simulation for this interchange mode, an enhanced temperature relaxation is observed between the hot and cold electrons although the theoretically predicted high frequency modes are stable. (Nogami, K.)

Archaeal Nitrification in Hot Springs

Science.gov (United States)

Richter, A.; Daims, H.; Reigstad, L.; Wanek, W.; Wagner, M.; Schleper, C.

2006-12-01

Biological nitrification, i.e. the aerobic conversion of ammonia to nitrate via nitrite, is a major component of the global nitrogen cycle. Until recently, it was thought that the ability to aerobically oxidize ammonia was confined to bacteria of the phylum Proteobacteria. However, it has recently been shown that Archaea of the phylum Crenarchaeota are also capable of ammonia oxidation. As many Crenarchaeota are thermophilic or hyperthermophilic, and at least some of them are capable of ammonia oxidation we speculated on the existence of (hyper)thermophilic ammonia-oxidizing archaea (AOA). Using PCR primers specifically targeting the archaeal ammonia monooxygenase (amoA) gene, we were indeed able to confirm the presence of such organisms in several hot springs in Reykjadalur, Iceland. These hot springs exhibited temperatures well above 80 °C and pH values ranging from 2.0 to 4.5. To proof that nitrification actually took place under these extreme conditions, we measured gross nitrification rates by the isotope pool dilution method; we added 15N-labelled nitrate to the mud and followed the dilution of the label by nitrate production from ammonium either in situ (incubation in the hot spring) or under controlled conditions in the laboratory (at 80 °C). The nitrification rates in the hot springs ranged from 0.79 to 2.22 mg nitrate-N per L of mud and day. Controls, in which microorganisms were killed before the incubations, demonstrated that the nitrification was of biological origin. Addition of ammonium increased the gross nitrification rate approximately 3-fold, indicating that the nitrification was ammonium limited under the conditions used. Collectively, our study provides evidence that (1) AOA are present in hot springs and (2) that they are actively nitrifying. These findings have major implications for our understanding of nitrogen cycling of hot environments.

Coulomb explosion of “hot spot”

Energy Technology Data Exchange (ETDEWEB)

Oreshkin, V. I., E-mail: oreshkin@ovpe.hcei.tsc.ru [Institute of High Current Electrons, SB, RAS, Tomsk (Russian Federation); Tomsk Polytechnic University, Tomsk (Russian Federation); Oreshkin, E. V. [P. N. Lebedev Physical Institute, RAS, Moscow (Russian Federation); Chaikovsky, S. A. [Institute of High Current Electrons, SB, RAS, Tomsk (Russian Federation); P. N. Lebedev Physical Institute, RAS, Moscow (Russian Federation); Institute of Electrophysics, UD, RAS, Ekaterinburg (Russian Federation); Artyomov, A. P. [Institute of High Current Electrons, SB, RAS, Tomsk (Russian Federation)

2016-09-15

The study presented in this paper has shown that the generation of hard x rays and high-energy ions, which are detected in pinch implosion experiments, may be associated with the Coulomb explosion of the hot spot that is formed due to the outflow of the material from the pinch cross point. During the process of material outflow, the temperature of the hot spot plasma increases, and conditions arise for the plasma electrons to become continuously accelerated. The runaway of electrons from the hot spot region results in the buildup of positive space charge in this region followed by a Coulomb explosion. The conditions for the hot spot plasma electrons to become continuously accelerated have been revealed, and the estimates have been obtained for the kinetic energy of the ions generated by the Coulomb explosion.

Coulomb explosion of “hot spot”

International Nuclear Information System (INIS)

Oreshkin, V. I.; Oreshkin, E. V.; Chaikovsky, S. A.; Artyomov, A. P.

2016-01-01

The study presented in this paper has shown that the generation of hard x rays and high-energy ions, which are detected in pinch implosion experiments, may be associated with the Coulomb explosion of the hot spot that is formed due to the outflow of the material from the pinch cross point. During the process of material outflow, the temperature of the hot spot plasma increases, and conditions arise for the plasma electrons to become continuously accelerated. The runaway of electrons from the hot spot region results in the buildup of positive space charge in this region followed by a Coulomb explosion. The conditions for the hot spot plasma electrons to become continuously accelerated have been revealed, and the estimates have been obtained for the kinetic energy of the ions generated by the Coulomb explosion.

A study of pressureless microwave sintering, microwave-assisted hot press sintering and conventional hot pressing on properties of aluminium/alumina nanocomposite

Energy Technology Data Exchange (ETDEWEB)

Abedinzadeh, Reza; Safavi, Seyed Mohsen; Karimzadeh, Fathallah [Isfahan University, Isfahan (Iran, Islamic Republic of)

2016-05-15

Bulk Al/4wt-%Al{sub 2}O{sub 3} nanocomposites were prepared by consolidating nanocomposite powders using pressureless microwave sintering, microwave-assisted hot press sintering and conventional hot pressing techniques. Microstructural observations revealed that the microwave-assisted hot press sintering at different sintering temperatures of 400.deg.C and 500.deg.C resulted in more densification and smaller grain size for Al/Al{sub 2}O{sub 3} nanocomposite as compared with the conventional hot pressing. Moreover, the application of pressure in microwave sintering process led to more densification and grain growth. Mechanical properties resulting from microhardness and nanoindentation tests were also compared between three-method processed samples. It was found that the microwave-assisted hot-pressed sample exhibited higher hardness and elastic modulus in comparison with microwave-sintered and conventional hot-pressed samples. The improvement in the mechanical properties can be ascribed to lower porosity of microwave-assisted hot-pressed sample.

Lorenz curve and Gini coefficient reveal hot spots and hot moments for nitrous oxide emissions

Science.gov (United States)

Identifying hot spots and hot moments of N2O emissions in the landscape is critical for monitoring and mitigating the emission of this powerful greenhouse gas. We propose a novel use of the Lorenz curve and Gini coefficient (G) to quantify the heterogeneous distribution of N2O emissions from a lands...

Hot Flashes amd Night Sweats (PDQ)

Science.gov (United States)

... Professionals Questions to Ask about Your Treatment Research Hot Flashes and Night Sweats (PDQ®)–Patient Version Overview ... quality of life in many patients with cancer. Hot flashes and night sweats may be side effects ...

Hot deformation behavior and hot working characteristic of Nickel-base electron beam weldments

International Nuclear Information System (INIS)

Ning, Yongquan; Yao, Zekun; Guo, Hongzhen; Fu, M.W.

2014-01-01

Highlights: • The Hot deformation behavior of electron beam (EB) Nickel-base weldments was investigated. • The constitutive equation represented by temperature, strain rate and true strain was developed. • Processing map approach was adopted to optimize the hot forging process of EB weldments. • True strain has a great effect on the efficiency of power dissipation (η). -- Abstract: The electron beam welding (EBW) of Nickel-base superalloys was conducted, and the cylindrical compression specimens were machined from the central part of the electron beam (EB) weldments. The hot deformation behavior of EB weldments was investigated at the temperature of 960–1140 °C and the strain rate of 0.001–1.0 s −1 . The apparent activation energy of deformation was calculated to be 400 kJ/mol, and the constitutive equation that describes the flow stress as a function of strain rate and deformation temperature was proposed for modeling of the hot deformation process of EB weldments. The processing map approach was adopted to investigate the deformation mechanisms during the hot plastic deformation and to optimize the processing parameters of EB weldments. It is found that the true strain has a significant effect on the efficiency of power dissipation (η). The η value in the safe processing domain (1140 °C, 1.0 s −1 ) increases from 0.32 to 0.55. In the unsafe processing domain (1080 °C, 0.001 s −1 ), however, the η value greatly decreases with the increase of strain. When the strain is 0.40, the efficiency of power dissipation becomes negative. The flow instability is predicted to occur since the instability parameter ξ(ε) becomes negative. The hot deformation of EB weldments can be carried out safely in the domain with the strain rate range of 0.1–1.0 s −1 and the temperature range of 960–1140 °C. When the height reduction is about 50%, the optimum processing condition is (T opi : 1140 °C, ε opi : 1.0 s −1 ) with the peak efficiency of 0

Hot deformation behavior and hot working characteristic of Nickel-base electron beam weldments

Energy Technology Data Exchange (ETDEWEB)

Ning, Yongquan, E-mail: ningke521@163.com [School of Materials Science and Engineering, Northwestern Polytechnical University, Xi’an 710072 (China); Yao, Zekun; Guo, Hongzhen [School of Materials Science and Engineering, Northwestern Polytechnical University, Xi’an 710072 (China); Fu, M.W. [Department of Mechanical Engineering, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong (China)

2014-01-25

Highlights: • The Hot deformation behavior of electron beam (EB) Nickel-base weldments was investigated. • The constitutive equation represented by temperature, strain rate and true strain was developed. • Processing map approach was adopted to optimize the hot forging process of EB weldments. • True strain has a great effect on the efficiency of power dissipation (η). -- Abstract: The electron beam welding (EBW) of Nickel-base superalloys was conducted, and the cylindrical compression specimens were machined from the central part of the electron beam (EB) weldments. The hot deformation behavior of EB weldments was investigated at the temperature of 960–1140 °C and the strain rate of 0.001–1.0 s{sup −1}. The apparent activation energy of deformation was calculated to be 400 kJ/mol, and the constitutive equation that describes the flow stress as a function of strain rate and deformation temperature was proposed for modeling of the hot deformation process of EB weldments. The processing map approach was adopted to investigate the deformation mechanisms during the hot plastic deformation and to optimize the processing parameters of EB weldments. It is found that the true strain has a significant effect on the efficiency of power dissipation (η). The η value in the safe processing domain (1140 °C, 1.0 s{sup −1}) increases from 0.32 to 0.55. In the unsafe processing domain (1080 °C, 0.001 s{sup −1}), however, the η value greatly decreases with the increase of strain. When the strain is 0.40, the efficiency of power dissipation becomes negative. The flow instability is predicted to occur since the instability parameter ξ(ε) becomes negative. The hot deformation of EB weldments can be carried out safely in the domain with the strain rate range of 0.1–1.0 s{sup −1} and the temperature range of 960–1140 °C. When the height reduction is about 50%, the optimum processing condition is (T{sub opi}: 1140 °C, ε{sub opi}: 1.0 s{sup −1}) with

Detecting hot spots at hazardous-waste sites

International Nuclear Information System (INIS)

Zirschky, J.; Gilbert, R.O.

1984-01-01

Evaluating the need for remedial cleanup at a waste site involves both finding the average contaminant concentration and identifying highly contaminated areas, or hot spots. A nomographic procedure to determine the sample configuration needed to locate a hot spot is presented. The technique can be used to develop a waste-site sampling plant - to determine either the grid spacing required to detect a hot spot at a given level of confidence, or the probability of finding a hot spot of a certain size, given a particular grid spacing. The method and computer program (ELIPGRID) were developed for locating geologic deposits, but the basic procedure can also be used to detect hot spots at chemical- or nuclear-waste disposal sites. Nomographs based on the original program are presented for three sampling-grid configurations - square, rectangular and triangular

HOT GAS HALOS IN EARLY-TYPE FIELD GALAXIES

International Nuclear Information System (INIS)

Mulchaey, John S.; Jeltema, Tesla E.

2010-01-01

We use Chandra and XMM-Newton to study the hot gas content in a sample of field early-type galaxies. We find that the L X -L K relationship is steeper for field galaxies than for comparable galaxies in groups and clusters. The low hot gas content of field galaxies with L K ∼ * suggests that internal processes such as supernovae-driven winds or active galactic nucleus feedback expel hot gas from low-mass galaxies. Such mechanisms may be less effective in groups and clusters where the presence of an intragroup or intracluster medium can confine outflowing material. In addition, galaxies in groups and clusters may be able to accrete gas from the ambient medium. While there is a population of L K ∼ * galaxies in groups and clusters that retain hot gas halos, some galaxies in these rich environments, including brighter galaxies, are largely devoid of hot gas. In these cases, the hot gas halos have likely been removed via ram pressure stripping. This suggests a very complex interplay between the intragroup/intracluster medium and hot gas halos of galaxies in rich environments, with the ambient medium helping to confine or even enhance the halos in some cases and acting to remove gas in others. In contrast, the hot gas content of more isolated galaxies is largely a function of the mass of the galaxy, with more massive galaxies able to maintain their halos, while in lower mass systems the hot gas escapes in outflowing winds.

Effect of hot pressing additives on the leachability of hot pressed sodium hydrous titanium oxide

International Nuclear Information System (INIS)

Valentine, T.M.; Sambell, R.A.J.

1980-01-01

Sodium hydrous titanium oxide is an ion exchange resin which can be used for immobilizing medium level waste (MLW) liquors. When hot pressed, it undergoes conversion to a ceramic. Three low melting point materials (borax, bismuth trioxide, and a mixture of PbO/CuO) were added to the (Na)HTiO and the effect that each of these had on aiding densification was assessed. Hot pressing temperature, applied pressure, and percentage addition of hot pressing aid were varied. Percentage open porosity, flexural strength, and leachability were measured. There was a linear relationship between the percentage open porosity and the logarithm of the leach rate for a constant percentage addition of each additive

Hot laboratory in Saclay. Equipment and radio-metallurgy technique of the hot lab in Saclay. Description of hot cell for handling of plutonium salts. Installation of an hot cell

International Nuclear Information System (INIS)

Bazire, R.; Blin, J.; Cherel, G.; Duvaux, Y.; Cherel, G.; Mustelier, J.P.; Bussy, P.; Gondal, G.; Bloch, J.; Faugeras, P.; Raggenbass, A.; Raggenbass, P.; Fufresne, J.

1959-01-01

Describes the conception and installation of the hot laboratory in Saclay (CEA, France). The construction ended in 1958. The main aim of this laboratory is to examine fuel rods of EL2 and EL3 as well as nuclear fuel studies. It is placed in between both reactors. In a first part, the functioning and specifications of the hot lab are given. The different hot cells are described with details of the ventilation and filtration system as well as the waste material and effluents disposal. The different safety measures are explained: description of the radiation protection, decontamination room and personnel monitoring. The remote handling equipment is composed of cutting and welding machine controlled with manipulators. Periscopes are used for sight control of the operation. In a second part, it describes the equipment of the hot lab. The unit for an accurate measurement of the density of irradiated uranium is equipped with an high precision balance and a thermostat. The equipment used for the working of irradiated uranium is described and the time length of each operation is given. There is also an installation for metallographic studies which is equipped with a manipulation bench for polishing and cleaning surfaces and a metallographic microscope. X-ray examination of uranium pellets will also be made and results will be compared with those of metallography. The last part describes the hot cells used for the manipulation of plutonium salts. The plutonium comes from the reprocessing plant and arrived as a nitric solution. Thus these cells are used to study the preparation of plutonium fluorides from nitric solution. The successive operations needed are explained: filtration, decontamination and extraction with TBP, purification on ion exchangers and finally formation of the plutonium fluorides. Particular attention has been given to the description of the specifications of the different gloveboxes and remote handling equipment used in the different reaction steps and

Repair-resistant mutation in Neurospora

International Nuclear Information System (INIS)

Stadler, D.; Macleod, H.; Loo, M.

1987-01-01

Chronic UV treatment produces severalfold fewer mutations in Neurospora conidia than does the same total dose of acute UV. Experiments were designed to determine the conditions required for chronic UV mutagenesis. Measurement of the coincidence frequency for two independent mutations revealed the existence of a subset of cells which are mutable by chronic UV. Analysis of forward mutation at the mtr locus showed that the genetic alterations produced by chronic UV were virtually all point mutants, even though the assay system could detect alterations or deletions extending into neighboring genes. A significant fraction of the mutants produced by acute UV were multigenic deletions. The size of the dose-rate effect (acute UV mutation frequency divided by chronic UV mutation frequency) was compared for several different mutation assay systems. Forward mutations (recessive lethals and mtr) gave values ranging from four to nine. For events which were restricted to specific molecular sites (specific reversions and nonsense suppressor mutations), there was a wider range of dose-rate ratios. This suggests that chronic UV mutation may be restricted to certain molecular sequences or configurations

Formation and decay of hot nuclei

International Nuclear Information System (INIS)

Tamain, B.

1992-09-01

The mechanisms involved in hot nuclei formation and decay and their eventual connexion with fundamental properties of nuclear matter are discussed, i.e. its equation of state is considered. After a brief review of the reactions in which hot nuclei can be formed, the variables which are used to describe them, the corresponding theoretical descriptions and their limits when extreme states are reached are discussed. Experimental evidences for hot nuclei formation are presented, with the corresponding decay properties used as signatures. (R.P.) 64 refs.; 25 figs.; 2 tabs

Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

Science.gov (United States)

Dehghanian, Fatemeh; Silawi, Mohammad; Tabei, Seyed M B

2017-02-01

Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. In this study, 13 unrelated classical PKU patients took part in the study detecting causative mutations. Mutations were identified by polymerase chain reaction (PCR) and direct sequencing in all patients. After that, haplotype analysis was performed by studying VNTR and PAHSTR markers (linked genetic markers of the PAH gene) through application of PCR and capillary electrophoresis (CE). Mutation analysis was performed successfully and the detected mutations were as follows: c.782G>A, c.754C>T, c.842C>G, c.113-115delTCT, c.688G>A, and c.696A>G. Additionally, PAHSTR/VNTR haplotypes were detected to discover haplotypes linked to each mutation. Mutation detection is the best approach for confirming PAH enzyme deficiency in PKU patients. Due to the relatively large size of the PAH gene and high cost of the direct sequencing in developing countries, haplotype analysis could be used before DNA sequencing and mutation detection for a faster and cheaper way via identifying probable mutated exons.

Hot tea and tiny tots don't mix: A cross-sectional survey on hot beverage scalds.

Science.gov (United States)

Burgess, J D; Kimble, R M; Watt, K A; Cameron, C M

2017-12-01

Hot beverage scalds are a leading cause of burns in young children. The aim of this study was to look at the circumstances surrounding these injuries in terms of setting, mechanism, supervision and first aid to inform a prevention campaign. A cross-sectional study was delivered via iPad to parents and caregivers presenting with a child aged 0-36 months with a hot beverage scald at a major paediatric burns centre. Of the 101 children aged 0-36 months that presented with a hot beverage scald over a 12-month period, 54 participants were included. The scald aetiology was as expected with the peak prevalence in children aged 6-24 months, pulling a cup of hot liquid down over themselves. The majority of injuries occurred in the child's home and were witnessed by the caregiver or parent. The supervising adult was often in close proximity when the scald occurred. Less than a third (28%) of participants received recommended first aid treatment at the scene, with an additional 18% receiving this treatment with three hours of the injury-usually at an emergency department. While the aetiology of these scalds were as expected, the low use of recommended burn first aid was of concern. Although supervision was present in almost all cases, with the parent/caregiver close-by, this proximity still permitted injury. Attentiveness and continuity of supervision, which can be difficult with competing parental demands, appear to play a more important role role; as do considerations of other safety mechanisms such as hazard reduction through keeping hot drinks out of reach and engineering factors such as improved cup design. By incorporating the findings from this study and other research into a hot beverage scald prevention campaign, we hope to see a change in knowledge and behaviour in parents and caregivers of young children, and ultimately a reduction in the incidence of hot beverage scalds. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Hot cell verification facility update

International Nuclear Information System (INIS)

Titzler, P.A.; Moffett, S.D.; Lerch, R.E.

1985-01-01

The Hot Cell Verification Facility (HCVF) provides a prototypic hot cell mockup to check equipment for functional and remote operation, and provides actual hands-on training for operators. The facility arrangement is flexible and assists in solving potential problems in a nonradioactive environment. HCVF has been in operation for six years, and the facility is a part of the Hanford Engineering Development Laboratory

The Oenothera plastome mutator: effect of UV irradiation and nitroso-methyl urea on mutation frequencies

International Nuclear Information System (INIS)

Sears, B.B.; Sokalski, M.B.

1991-01-01

Oenothera plants homozygous for a recessive plastome mutator allele (pm) showed spontaneous mutation frequencies for plastome genes that are 200-fold higher than spontaneous levels. Mutations occurred at high frequencies in plants grown in the field, in a glasshouse, or as leaf tip cultures under fluorescent light, indicating that the plastome mutator activity is UV-independent. However, the chlorotic sectors became visible at an earlier stage of development when seedlings were irradiated, compared to seedlings that were not exposed to UV. These results imply that the rate of sorting-out was increased by the irradiation treatment, possibly due to a decrease in the effective number of multiplication-competent plastids, or a reduction in the extent of cytoplasmic mixing. Nitroso-methyl urea treatment of seeds had a dramatic effect on mutation frequency in both wild-type and plastome mutator samples. When the background mutation rates were low, the combination of the plastome mutator nucleus and the chemical mutagenesis treatment resulted in a synergistic effect, suggesting that the plastome mutator may involve a cpDNA repair pathway. (author)

Mutations causative of familial hypercholesterolaemia

DEFF Research Database (Denmark)

Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

2016-01-01

causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

Physiologically assessed hot flashes and endothelial function among midlife women.

Science.gov (United States)

Thurston, Rebecca C; Chang, Yuefang; Barinas-Mitchell, Emma; Jennings, J Richard; von Känel, Roland; Landsittel, Doug P; Matthews, Karen A

2017-08-01

Hot flashes are experienced by most midlife women. Emerging data indicate that they may be associated with endothelial dysfunction. No studies have tested whether hot flashes are associated with endothelial function using physiologic measures of hot flashes. We tested whether physiologically assessed hot flashes were associated with poorer endothelial function. We also considered whether age modified associations. Two hundred seventy-two nonsmoking women reporting either daily hot flashes or no hot flashes, aged 40 to 60 years, and free of clinical cardiovascular disease, underwent ambulatory physiologic hot flash and diary hot flash monitoring; a blood draw; and ultrasound measurement of brachial artery flow-mediated dilation to assess endothelial function. Associations between hot flashes and flow-mediated dilation were tested in linear regression models controlling for lumen diameter, demographics, cardiovascular disease risk factors, and estradiol. In multivariable models incorporating cardiovascular disease risk factors, significant interactions by age (P hot flashes (beta [standard error] = -2.07 [0.79], P = 0.01), and more frequent physiologic hot flashes (for each hot flash: beta [standard error] = -0.10 [0.05], P = 0.03, multivariable) were associated with lower flow-mediated dilation. Associations were not accounted for by estradiol. Associations were not observed among the older women (age 54-60 years) or for self-reported hot flash frequency, severity, or bother. Among the younger women, hot flashes explained more variance in flow-mediated dilation than standard cardiovascular disease risk factors or estradiol. Among younger midlife women, frequent hot flashes were associated with poorer endothelial function and may provide information about women's vascular status beyond cardiovascular disease risk factors and estradiol.

Geographical distribution of hot flash frequencies: considering climatic influences.

Science.gov (United States)

Sievert, Lynnette Leidy; Flanagan, Erin K

2005-10-01

Laboratory studies suggest that hot flashes are triggered by small elevations in core body temperature acting within a reduced thermoneutral zone, i.e., the temperature range in which a woman neither shivers nor sweats. In the present study, it was hypothesized that women in different populations develop climate-specific thermoneutral zones, and ultimately, population-specific frequencies of hot flashes at menopause. Correlations were predicted between hot flash frequencies and latitude, elevation, and annual temperatures. Data on hot flash frequencies were drawn from 54 studies. Pearson correlation analyses and simple linear regressions were applied, first using all studies, and second using a subset of studies that included participants only to age 60 (n = 36). Regressions were repeated with all studies, controlling for method of hot flash assessment. When analyses were restricted to studies that included women up to age 60, average temperature of the coldest month was a significant predictor of hot flash frequency (P hottest and coldest temperatures was also a significant predictor (P coldest month, difference between hottest and coldest temperatures, and mean annual temperature were significant predictors of hot flash frequency. Women reported fewer hot flashes in warmer temperatures, and more hot flashes with increasing seasonality. These results suggest that acclimatization to coldest temperatures or sensitivity to seasonality may explain part of the population variation in hot flash frequency.

Multifragmentation of hot nuclei

International Nuclear Information System (INIS)

Tamain, B.

1990-10-01

It is difficult to deposit a large amount (∼ 1 Gev) of excitation energy into a nucleus. And if one wants to deposit large excitation energy values, the best way consists of shooting a given target nucleus with several nucleons, which can be achieved by using intermediate energy (10-100 MeV/nucleon) heavy ions. Such very excited objects were named hot nuclei. The study of hot nuclei has been undertaken only for 7 years because intermediate energy heavy ion facilities were not available before. The game is then to determine the decay properties of such nuclei, their limits of existence. Their study is connected with general properties of nuclear matter: namely its equation of state. Of special interest, is the onset of a new decay mechanism: multifragmentation, which is the non-sequential disassembly of a hot nucleus into several light nuclei (often called intermediate-mass fragments or IMF) or particles. This paper, shows how this mechanism can reflect fundamental properties of nuclear matter, but also how its experimental signature is difficult to establish. Multifragmentation has also been studied by using very energetic projectiles (protons and heavy ions) in the relativistic or ultra-relativistic region. The multifragmentation question of hot nuclei is far from being solved. One knows that IMF production increases when the excitation energy brought into a system is strongly increased, but very little is known about the mechanisms involved and a clear onset for multifragmentation is not established

Surface-Plasmon-Driven Hot Electron Photochemistry.

Science.gov (United States)

Zhang, Yuchao; He, Shuai; Guo, Wenxiao; Hu, Yue; Huang, Jiawei; Mulcahy, Justin R; Wei, Wei David

2017-11-30

Visible-light-driven photochemistry has continued to attract heightened interest due to its capacity to efficiently harvest solar energy and its potential to solve the global energy crisis. Plasmonic nanostructures boast broadly tunable optical properties coupled with catalytically active surfaces that offer a unique opportunity for solar photochemistry. Resonant optical excitation of surface plasmons produces energetic hot electrons that can be collected to facilitate chemical reactions. This review sums up recent theoretical and experimental approaches for understanding the underlying photophysical processes in hot electron generation and discusses various electron-transfer models on both plasmonic metal nanostructures and plasmonic metal/semiconductor heterostructures. Following that are highlights of recent examples of plasmon-driven hot electron photochemical reactions within the context of both cases. The review concludes with a discussion about the remaining challenges in the field and future opportunities for addressing the low reaction efficiencies in hot-electron-induced photochemistry.

Tuning temperature and size of hot spots and hot-spot arrays.

Science.gov (United States)

Saïdi, Elika; Babinet, Nicolas; Lalouat, Loïc; Lesueur, Jérôme; Aigouy, Lionel; Volz, Sébastian; Labéguerie-Egéa, Jessica; Mortier, Michel

2011-01-17

By using scanning thermal microscopy, it is shown that nanoscale constrictions in metallic microwires deposited on an oxidized silicon substrate can be tuned in terms of temperature and confinement size. High-resolution temperature maps indeed show that submicrometer hot spots and hot-spot arrays are obtained when the SiO(2) layer thickness decreases below 100 nm. When the SiO(2) thickness becomes larger, heat is less confined in the vicinity of the constrictions and laterally spreads all along the microwire. These results are in good agreement with numerical simulations, which provide dependences between silica-layer thickness and nanodot shape and temperature. Copyright © 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Mutator activity in Schizophyllum commune

Energy Technology Data Exchange (ETDEWEB)

Shneyour, Y.; Koltin, Y. (Tel Aviv Univ. (Israel). Dept. of Microbiology)

1983-01-01

A strain with an elevated level of spontaneous mutations and an especially high rate of reversion at a specific locus (pab/sup -/) was identified. The mutator trait is recessive. UV sensitivity and the absence of a UV-specific endonucleolytic activity were associated with the enhancement of the mutation rate in mutator strains. The endonuclease associated with the regulation of the mutation rate also acted on single-stranded DNA. The molecular weight of this enzyme is about 38,000 daltons.

Mutation and premating isolation

Science.gov (United States)

Woodruff, R. C.; Thompson, J. N. Jr

2002-01-01

While premating isolation might be traceable to different genetic mechanisms in different species, evidence supports the idea that as few as one or two genes may often be sufficient to initiate isolation. Thus, new mutation can theoretically play a key role in the process. But it has long been thought that a new isolation mutation would fail, because there would be no other individuals for the isolation-mutation-carrier to mate with. We now realize that premeiotic mutations are very common and will yield a cluster of progeny carrying the same new mutant allele. In this paper, we discuss the evidence for genetically simple premating isolation barriers and the role that clusters of an isolation mutation may play in initiating allopatric, and even sympatric, species divisions.

Hot gas cleaning, a targeted project

Energy Technology Data Exchange (ETDEWEB)

Romey, I. [University of Essen, Essen (Germany)

1998-11-01

Advanced hot gas cleaning systems will play a key role in future integrated combined cycle technologies. IGCC demonstration plants in operation or under construction are at present equipped with conventional wet gas scrubbing and cleaning systems. Feasibility studies for those IGCC plants have shown that the total efficiency of the processes can be improved using hot gas cleaning systems. However, this technology has not been developed and tested at a technical scale. Six well-known European industrial companies and research centres jointly worked together since January 1996 on a Targeted Project `Hot Gas Cleaning` to investigate and develop new hot gas cleaning systems for advanced clean coal power generation processes. In addition project work on chemical analysis and modelling was carried out in universities in England and Germany. The latest main findings were presented at the workshop. The main project aims are summarised as follows: to increase efficiency of advanced power generation processes; to obtain a reduction of alkalis and environmental emissions e.g. SO{sub 2}, NO{sub x}, CO{sub 2} and dust; and to develop the design basis for future industrial plants based on long-term operation of laboratory, pilot and demo-plants. To cover a range of possible process routes for future hot gas cleaning systems the following research programme is under investigation: removal of trace elements by different commercial and self developed sorbents; gas separation by membranes; separation of gas turbine relevant pollutants by hot filter dust and; H{sub 2}S removal and gas dedusting at high temperatures. 13 figs.

Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations

Energy Technology Data Exchange (ETDEWEB)

Rozen, R.; Mascisch, A.; Scriver, C.R. (McGill Univ., Montreal (Canada)); Lambert, M. (Hopital Ste-Justine, Montreal (Canada)); Laframboise, R. (Centre Hospitalier Universite Laval, Quebec (Canada))

1994-08-01

Independent phenylketonuria (PKU) chromosomes (n=109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal region and predominantly on French Canadians. It has identified three novel mutations (A309D, D338Y, and 1054/1055delG [352fs]) and one unusual mutation/RFLP haplotype combination (E280K on Hp 2). The relative frequencies and distribution of PKU mutations were then compared in three regions and population subsets (eastern Quebec, French Canadian; western Quebec, French Canadian; and Montreal, non-French Canadian). The distributions of the prevalent and rare mutations are nonrandom and provide evidence for genetic stratification. The latter and the presence of eight unusual mutation/haplotype combinations in Quebec families with European ancestries (the aforementioned four and M1V, 165T, S349P, and R408W on Hp 1) corroborate demographic and anthropologic evidence, from elsewhere, for different origins of French Canadians in eastern and western Quebec. 29 refs., 1 fig., 1 tab.

Hot-cell verification facility

International Nuclear Information System (INIS)

Eschenbaum, R.A.

1981-01-01

The Hot Cell Verification Facility (HCVF) was established as the test facility for the Fuels and Materials Examination Facility (FMEF) examination equipment. HCVF provides a prototypic hot cell environment to check the equipment for functional and remote operation. It also provides actual hands-on training for future FMEF Operators. In its two years of operation, HCVF has already provided data to make significant changes in items prior to final fabrication. It will also shorten the startup time in FMEF since the examination equipment will have been debugged and operated in HCVF

Better plants through mutations

International Nuclear Information System (INIS)

1988-01-01

This is a public relations film describing problems associated with the genetic improvement of crop plants through induced mutations. Mutations are the ultimate source of genetic variation in plants. Mutation induction is now established as a practical tool in plant breeding. The Joint FAO/IAEA Division and the IAEA's laboratory at Seibersdorf have supported research and practical implementation of mutation breeding of both seed propagated and vegetatively propagated plants. Plant biotechnology based on in vitro culture and recombinant DNA technology will make a further significant contribution to plant breeding

Hot Laboratories and Remote Handling

International Nuclear Information System (INIS)

Bart, G.; Blanc, J.Y.; Duwe, R.

2003-01-01

The European Working Group on ' Hot Laboratories and Remote Handling' is firmly established as the major contact forum for the nuclear R and D facilities at the European scale. The yearly plenary meetings intend to: - Exchange experience on analytical methods, their implementation in hot cells, the methodologies used and their application in nuclear research; - Share experience on common infrastructure exploitation matters such as remote handling techniques, safety features, QA-certification, waste handling; - Promote normalization and co-operation, e.g., by looking at mutual complementarities; - Prospect present and future demands from the nuclear industry and to draw strategic conclusions regarding further needs. The 41. plenary meeting was held in CEA Saclay from September 22 to 24, 2003 in the premises and with the technical support of the INSTN (National Institute for Nuclear Science and Technology). The Nuclear Energy Division of CEA sponsored it. The Saclay meeting was divided in three topical oral sessions covering: - Post irradiation examination: new analysis methods and methodologies, small specimen technology, programmes and results; - Hot laboratory infrastructure: decommissioning, refurbishment, waste, safety, nuclear transports; - Prospective research on materials for future applications: innovative fuels (Generation IV, HTR, transmutation, ADS), spallation source materials, and candidate materials for fusion reactor. A poster session was opened to transport companies and laboratory suppliers. The meeting addressed in three sessions the following items: Session 1 - Post Irradiation Examinations. Out of 12 papers (including 1 poster) 7 dealt with surface and solid state micro analysis, another one with an equally complex wet chemical instrumental analytical technique, while the other four papers (including the poster) presented new concepts for digital x-ray image analysis; Session 2 - Hot laboratory infrastructure (including waste theme) which was

Characterisation study of radionuclides in Hot Cell Facility

International Nuclear Information System (INIS)

Ghare, P.T.; Rath, D.P.; Govalkar, Atul; Mukherjee, Govinda; AniIKumar, S.; Yadav, R.K.B.; Mallik, G.K.

2016-01-01

Examination of different types of experimental as well as power reactor irradiated fuels and validation of fuel modeling codes is carried out in general Hot cell facility. The Hot cell facility has six concrete shielded hot cells, capable of handling radioactivity varying from 3.7 TBQ to 3700 TBq gamma activity. The facility was augmented with two hot cells having designed capacity to handle radioactivity of 9250 TBQ of equivalent activity of 60 Co. The study of characterization of various radionuclides present inside the hot cell of PIE facility was taken up. This study will help in providing valuable inputs for various radiological safety parameters to keep personnel exposure to ALARA level as per the mandate of radiation safety program

Kinetics of chemical reactions initiated by hot atoms

International Nuclear Information System (INIS)

Firsova, L.P.

1977-01-01

Modern ideas about kinetics of chemical reactions of hot atoms are generalized. The main points of the phenomenological theories (''kinetic theory'' of Wolfgang-Estrup hot reactions and the theory of ''reactions integral probability'' of Porter) are given. Physico-chemical models of elastic and non-elastic collisions are considered which are used in solving Boltzmann integro-differential equations and stochastic equations in the Porter theory. The principal formulas are given describing probabilities or yields of chemical reactions, initiated with hot atoms, depending on the distribution functions of hot particles with respect to energy. Briefly described are the techniques and the results of applying the phenomenological theories for interpretation of the experimental data obtained during nuclear reactions with hot atoms, photochemical investigations, etc. 96 references are given

Predictable Phenotypes of Antibiotic Resistance Mutations.

Science.gov (United States)

Knopp, M; Andersson, D I

2018-05-15

Antibiotic-resistant bacteria represent a major threat to our ability to treat bacterial infections. Two factors that determine the evolutionary success of antibiotic resistance mutations are their impact on resistance level and the fitness cost. Recent studies suggest that resistance mutations commonly show epistatic interactions, which would complicate predictions of their stability in bacterial populations. We analyzed 13 different chromosomal resistance mutations and 10 host strains of Salmonella enterica and Escherichia coli to address two main questions. (i) Are there epistatic interactions between different chromosomal resistance mutations? (ii) How does the strain background and genetic distance influence the effect of chromosomal resistance mutations on resistance and fitness? Our results show that the effects of combined resistance mutations on resistance and fitness are largely predictable and that epistasis remains rare even when up to four mutations were combined. Furthermore, a majority of the mutations, especially target alteration mutations, demonstrate strain-independent phenotypes across different species. This study extends our understanding of epistasis among resistance mutations and shows that interactions between different resistance mutations are often predictable from the characteristics of the individual mutations. IMPORTANCE The spread of antibiotic-resistant bacteria imposes an urgent threat to public health. The ability to forecast the evolutionary success of resistant mutants would help to combat dissemination of antibiotic resistance. Previous studies have shown that the phenotypic effects (fitness and resistance level) of resistance mutations can vary substantially depending on the genetic context in which they occur. We conducted a broad screen using many different resistance mutations and host strains to identify potential epistatic interactions between various types of resistance mutations and to determine the effect of strain

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

Directory of Open Access Journals (Sweden)

Yasushi Ogawa

2014-05-01

Full Text Available When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box. However, cases of this hypothetical pathogenic mechanism have never been reported. We describe a lethal form of keratitis-ichthyosis-deafness (KID syndrome caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele. The patient's mother had the identical misssense mutation which was confined by the nonsense mutation. The biological relationship between the parents and the child was confirmed by genotyping of 15 short tandem repeat loci. Haplotype analysis using 40 SNPs spanning the >39 kbp region surrounding the GJB2 gene and an extended SNP microarray analysis spanning 83,483 SNPs throughout chromosome 13 in the family showed that an allelic recombination event involving the maternal allele carrying the mutations generated the pathogenic allele unique to the patient, although the possibility of coincidental accumulation of spontaneous point mutations cannot be completely excluded. Previous reports and our mutation screening support that p.Gly45Glu is in complete linkage disequilibrium with p.Tyr136X in the Japanese population. Estimated from statisitics in the literature, there may be approximately 11,000 p.Gly45Glu carriers in the Japanese population who have this second-site confining mutation, which acts as natural genetic protection from the lethal disease. The reversion-triggered onset of the disesase shown in this study is a previously unreported genetic pathogenesis based on Mendelian inheritance.

Live hot, die young: transmission distortion in recombination hotspots.

Directory of Open Access Journals (Sweden)

Graham Coop

2007-03-01

Full Text Available There is strong evidence that hotspots of meiotic recombination in humans are transient features of the genome. For example, hotspot locations are not shared between human and chimpanzee. Biased gene conversion in favor of alleles that locally disrupt hotspots is a possible explanation of the short lifespan of hotspots. We investigate the implications of such a bias on human hotspots and their evolution. Our results demonstrate that gene conversion bias is a sufficiently strong force to produce the observed lack of sharing of intense hotspots between species, although sharing may be much more common for weaker hotspots. We investigate models of how hotspots arise, and find that only models in which hotspot alleles do not initially experience drive are consistent with observations of rather hot hotspots in the human genome. Mutations acting against drive cannot successfully introduce such hotspots into the population, even if there is direct selection for higher recombination rates, such as to ensure correct segregation during meiosis. We explore the impact of hotspot alleles on patterns of haplotype variation, and show that such alleles mask their presence in population genetic data, making them difficult to detect.

Energy saving type area hot water supply system using heat of hot waste water from the sludge center as hot source for hot water; New energy rokko airando CITY. Surajjisenta karano onhaisuinetsu wo kyuyuyo netsugen ni riyosuru sho energy gata chiiki onsui kyokyu system

Energy Technology Data Exchange (ETDEWEB)

NONE

1998-01-01

Heat source of area hot water supply system in Rokko island City (man-made island) is heat of combustion at the sludge center (sludge incineration plant) in this island. Dehydrated sludge cakes (230ton/day) brought from seven sewage disposal plants in Kobe City is combusted (850degC) in the fluid bed hearth. Combustion gas washed in the scrubber, hot waste water after the washing give heat into heat transfer water in the first heat exchanger. Temperature being 64degC in summer and about 50degC in winter, this heat transfer water is sent into the second heat exchanger at every condominium building throughout the pipe line system circulating in the area. At each home, gas heater and hot water supply devices fitted, additional combustion is not necessary in summer but is used according to demand in other seasons. This hot water supply service has been carried out since 1988 and at present has been used by 3600 homes. Amount of supplying hot water being about 3000cu.m/day, saving is calculated roughly as 60% of gas for hot water supply. Fee for this system is 1500/yen/month uniformly for each home. 14 figs.

X-ray hot plasma diagnostics

International Nuclear Information System (INIS)

Cojocaru, E.

1984-11-01

X-ray plasma emission study is powerful diagnostic tool of hot plasmas. In this review article the main techniques of X-ray plasma emission measurement are shortly presented: X-ray spectrometry using absorbent filters, crystal and grating spectrometers, imaging techniques using pinhole cameras, X-ray microscopes and Fresnel zone plate cameras, X-ray plasma emission calorimetry. Advances in these techniques with examples for different hot plasma devices are also presentes. (author)

Hot pressing of B4C/SiC composites

International Nuclear Information System (INIS)

Sahin, F.C.; Turhan, E.; Yesilcubuk, S.A.; Addemir, O.

2005-01-01

B 4 C/SiC ceramic composites containing 10-20-30 vol % SiC were prepared by hot pressing method. The effect of SiC addition and hot pressing temperature on sintering behaviour and mechanical properties of hot pressed composites were investigated. Microstructures of hot pressed samples were examined by SEM technique. Three different temperatures (2100 deg. C, 2200 deg. C and 2250 deg. C) were used to optimize hot pressing temperature applying 100 MPa pressure under argon atmosphere during the sintering procedure. The highest relative density of 98.44 % was obtained by hot pressing at 2250 deg. C. However, bending strengths of B 4 C/SiC composite samples were lower than monolithic B 4 C in all experimental conditions. (authors)

Parental use of the term "Hot Qi" to describe symptoms in their children in Hong Kong: a cross sectional survey "Hot Qi" in children

Directory of Open Access Journals (Sweden)

Chan Danny

2006-01-01

Full Text Available Abstract Background The Chinese term "Hot Qi" is often used by parents to describe symptoms in their children. The current study was carried out to estimate the prevalence of using the Chinese term "Hot Qi" to describe symptoms in children by their parents and the symptomatology of "Hot Qi". Method A cross sectional survey by face-to-face interview with a semi-structured questionnaire was carried out in a public hospital and a private clinic in Hong Kong. The parental use of the term "Hot Qi", the symptoms of "Hot Qi" and the remedies used for "Hot Qi" were asked. Results 1060 pairs of children and parents were interviewed. 903 (85.1% of parents claimed that they had employed the term "Hot Qi" to describe their children's symptoms. Age of children and place of birth of parents were the predictors of parents using the term "Hot Qi". Eye discharge (37.2%, sore throat (33.9%, halitosis(32.8%, constipation(31.0%, and irritable (21.2% were the top five symptoms of "Hot Qi" in children. The top five remedies for "Hot Qi" were the increased consumption of water (86.8%, fruit (72.5%, soup (70.5%, and the use of herbal beverages "five-flower- tea" (a combination of several flowers such as Chrysanthemum morifolii, Lonicera japonica, Bombax malabaricum, Sophora japonica, and Plumeria rubra (57.6% or selfheal fruit spike (Prunella vulgaris (42.4%. Conclusion "Hot Qi" is often used by Chinese parents to describe symptoms in their children in Hong Kong. Place of birth of parents and age of the children are main factors for parents to apply the term "Hot Qi" to describe symptoms of their children. The common symptoms of "Hot Qi" suggest infections or allergy.

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

Science.gov (United States)

Parmeggiani, Francesco; Barbaro, Vanessa; De Nadai, Katia; Lavezzo, Enrico; Toppo, Stefano; Chizzolini, Marzio; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo

2016-01-01

The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire open reading frames of RPGR and retinitis pigmentosa 2 genes were analyzed by Sanger sequencing. A novel frame-shift mutation in exon ORF15 of RPGR gene (c.2091_2092insA; p.A697fs) was identified as hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibited symmetrical PM in both eyes. The c.2091_2092insA mutation coherently co-segregated with the observed phenotypes. These findings expand the spectrum of X-linked RP variants. Interestingly, focusing on Caucasian ethnicity, just three RPGR mutations are hitherto reported in RP-PM families: one of these is located in exon ORF15, but none appears to be characterized by a high penetrance of PM trait as observed in the present, relatively small, pedigree. The geno-phenotypic attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to PM via a degenerative cell-cell remodeling of the retinal structures. PMID:27995965

Flute-interchange stability in a hot electron plasma

International Nuclear Information System (INIS)

Dominguez, R.R.

1980-01-01

Several topics in the kinetic stability theory of flute-interchange modes in a hot electron plasma are discussed. The stability analysis of the hot-electron, curvature-driven flute-interchange mode, previously performed in a slab geometry, is extended to a cylindrical plasma. The cold electron concentration necessary for stability differs substantially from previous criteria. The inclusion of a finite temperature background plasma in the stability analysis results in an ion curvature-driven flute-interchange mode which may be stabilized by either hot-electron diamagnetic effects, hot-electron plasma density, or finite (ion) Larmor radius effects

Fire preparedness measures in buildings with hot laboratories

International Nuclear Information System (INIS)

Oberlaender, B.C.

2003-01-01

Important hot laboratory safety issues are the general design/construction of the building with respect to fire, fire prevention, fire protection, administrative controls, and risk assessment. Within the network of the European Working Group Hot Laboratories and Remote Handling items concerning 'fire preparedness measures in hot laboratories' were screened and studied. Two questionnaires were sent to European hot laboratories; the first in November 2002 on 'fire preparedness measures, fire detection and fire suppression/extinguishing in lead shielded cells, concrete shielded cells' and the second in June 2003 on 'Fire preparedness measures in buildings with hot laboratories'. The questionnaires were filled in by a total of ten hot laboratories in seven European countries. On request of participants the answers were evaluated and 'anonymised' for presentation and discussion at the plenary meeting. The answers showed that many European hot laboratories are implementing improvements to their fire protection programmes to comply with more stringent requirements of the national authorities. The recommendations ('International guidelines for the fire protection of Nuclear Power Plants') given by the insurance pools are followed up with national variations. An ISO standard (ISO 17873) is in progress giving criteria for the design and the operation of ventilation systems as well as fire hazard management in nuclear installations others than reactors

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.

Science.gov (United States)

Gu, Shun; Tian, Yuanyuan; Chen, Xue; Zhao, Chen

2016-01-01

We aim to determine genetic lesions with a phenotypic correlation in four Chinese families with autosomal recessive retinitis pigmentosa (RP). Medical histories were carefully reviewed. All patients received comprehensive ophthalmic evaluations. The next-generation sequencing (NGS) approach targeting a panel of 205 retinal disease-relevant genes and 15 candidate genes was selectively performed on probands from the four recruited families for mutation detection. Online predictive software and crystal structure modeling were also applied to test the potential pathogenic effects of identified mutations. Of the four families, two were diagnosed with RP sino pigmento (RPSP). Patients with RPSP claimed to have earlier RP age of onset but slower disease progression. Five mutations in the eyes shut homolog (EYS) gene, involving two novel (c.7228+1G>A and c.9248G>A) and three recurrent mutations (c.4957dupA, c.6416G>A and c.6557G>A), were found as RP causative in the four families. The missense variant c.5093T>C was determined to be a variant of unknown significance (VUS) due to the variant's colocalization in the same allele with the reported pathogenic mutation c.6416G>A. The two novel variants were further confirmed absent in 100 unrelated healthy controls. Online predictive software indicated potential pathogenicity of the three missense mutations. Further, crystal structural modeling suggested generation of two abnormal hydrogen bonds by the missense mutation p.G2186E (c.6557G>A) and elongation of its neighboring β-sheet induced by p.G3083D (c.9248G>A), which could alter the tertiary structure of the eys protein and thus interrupt its physicochemical properties. Taken together, with the targeted NGS approach, we reveal novel EYS mutations and prove the efficiency of targeted NGS in the genetic diagnoses of RP. We also first report the correlation between EYS mutations and RPSP. The genotypic-phenotypic relationship in all Chinese patients carrying mutations in the EYS

Jumping-droplet electronics hot-spot cooling

Science.gov (United States)

Oh, Junho; Birbarah, Patrick; Foulkes, Thomas; Yin, Sabrina L.; Rentauskas, Michelle; Neely, Jason; Pilawa-Podgurski, Robert C. N.; Miljkovic, Nenad

2017-03-01

Demand for enhanced cooling technologies within various commercial and consumer applications has increased in recent decades due to electronic devices becoming more energy dense. This study demonstrates jumping-droplet based electric-field-enhanced (EFE) condensation as a potential method to achieve active hot spot cooling in electronic devices. To test the viability of EFE condensation, we developed an experimental setup to remove heat via droplet evaporation from single and multiple high power gallium nitride (GaN) transistors acting as local hot spots (4.6 mm × 2.6 mm). An externally powered circuit was developed to direct jumping droplets from a copper oxide (CuO) nanostructured superhydrophobic surface to the transistor hot spots by applying electric fields between the condensing surface and the transistor. Heat transfer measurements were performed in ambient air (22-25 °C air temperature, 20%-45% relative humidity) to determine the effect of gap spacing (2-4 mm), electric field (50-250 V/cm) and applied heat flux (demonstrated to 13 W/cm2). EFE condensation was shown to enhance the heat transfer from the local hot spot by ≈200% compared to cooling without jumping and by 20% compared to non-EFE jumping. Dynamic switching of the electric field for a two-GaN system reveals the potential for active cooling of mobile hot spots. The opportunity for further cooling enhancement by the removal of non-condensable gases promises hot spot heat dissipation rates approaching 120 W/cm2. This work provides a framework for the development of active jumping droplet based vapor chambers and heat pipes capable of spatial and temporal thermal dissipation control.

Jumping-droplet electronics hot-spot cooling

International Nuclear Information System (INIS)

Oh, Junho; Birbarah, Patrick; Foulkes, Thomas; Yin, Sabrina L.; Rentauskas, Michelle

2017-01-01

Demand for enhanced cooling technologies within various commercial and consumer applications has increased in recent decades due to electronic devices becoming more energy dense. This study demonstrates jumping-droplet based electric-field-enhanced (EFE) condensation as a potential method to achieve active hot spot cooling in electronic devices. To test the viability of EFE condensation, we developed an experimental setup to remove heat via droplet evaporation from single and multiple high power gallium nitride (GaN) transistors acting as local hot spots (4.6 mm x 2.6 mm). An externally powered circuit was developed to direct jumping droplets from a copper oxide (CuO) nanostructured superhydrophobic surface to the transistor hot spots by applying electric fields between the condensing surface and the transistor. Heat transfer measurements were performed in ambient air (22-25°C air temperature, 20-45% relative humidity) to determine the effect of gap spacing (2-4 mm), electric field (50-250 V/cm), and heat flux (demonstrated to 13 W/cm"2). EFE condensation was shown to enhance the heat transfer from the local hot spot by ≈ 200% compared to cooling without jumping and by 20% compared to non-EFE jumping. Dynamic switching of the electric field for a two-GaN system reveals the potential for active cooling of mobile hot spots. The opportunity for further cooling enhancement by the removal of non-condensable gases promises hot spot heat dissipation rates approaching 120 W/cm"2. Finally, this work provides a framework for the development of active jumping droplet based vapor chambers and heat pipes capable of spatial and temporal thermal dissipation control.

Hot Jupiters around M dwarfs

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Murgas F.

2013-04-01

Full Text Available The WFCAM Transit Survey (WTS is a near-infrared transit survey running on the United Kingdom Infrared Telescope (UKIRT. We conduct Monte Carlo transit injection and detection simulations for short period (<10 day Jupiter-sized planets to characterize the sensitivity of the survey. We investigate the recovery rate as a function of period and magnitude in 2 hypothetical star-planet cases: M0–2 + hot Jupiter, M2–4 + hot Jupiter. We find that the WTS lightcurves are very sensitive to the presence of Jupiter-sized short-period transiting planets around M dwarfs. The non-detection of a hot-Jupiter around an M dwarf by the WFCAM Transit Survey allows us to place a firm upper limit of 1.9 per cent (at 95 per cent confidence on the planet occurrence rate.

Hot-working behavior of cast Pr-Fe-B magnets

International Nuclear Information System (INIS)

Shimoda, T.; Akioka, K.; Kobayashi, O.; Yamagami, T.; Ohki, T.; Miyagawa, M.; Yuri, T.

1989-01-01

The hot-working behavior of cast Pr-Fe-B magnets is investigated. The hot-working is done both at a low strain rate (hot-pressing) and a high strain rate (hot-rolling). Magnetic alignment induced by the hot-working is found to be closely related to the macrostructure of the cast ingots and the direction of principal stress. The appropriate structure is a columnar structure. The c-axis of the Pr2Fe14B phase is lying in the plane perpendicular to the growth direction of the dendrites. The principal stress during working should be given perpendicular to the growth direction

Exploring the common molecular basis for the universal DNA mutation bias: Revival of Loewdin mutation model

International Nuclear Information System (INIS)

Fu, Liang-Yu; Wang, Guang-Zhong; Ma, Bin-Guang; Zhang, Hong-Yu

2011-01-01

Highlights: → There exists a universal G:C → A:T mutation bias in three domains of life. → This universal mutation bias has not been sufficiently explained. → A DNA mutation model proposed by Loewdin 40 years ago offers a common explanation. -- Abstract: Recently, numerous genome analyses revealed the existence of a universal G:C → A:T mutation bias in bacteria, fungi, plants and animals. To explore the molecular basis for this mutation bias, we examined the three well-known DNA mutation models, i.e., oxidative damage model, UV-radiation damage model and CpG hypermutation model. It was revealed that these models cannot provide a sufficient explanation to the universal mutation bias. Therefore, we resorted to a DNA mutation model proposed by Loewdin 40 years ago, which was based on inter-base double proton transfers (DPT). Since DPT is a fundamental and spontaneous chemical process and occurs much more frequently within GC pairs than AT pairs, Loewdin model offers a common explanation for the observed universal mutation bias and thus has broad biological implications.

Modeling deflagration waves out of hot spots

Science.gov (United States)

Partom, Yehuda

2017-01-01

It is widely accepted that shock initiation and detonation of heterogeneous explosives comes about by a two-step process known as ignition and growth. In the first step a shock sweeping through an explosive cell (control volume) creates hot spots that become ignition sites. In the second step, deflagration waves (or burn waves) propagate out of those hot spots and transform the reactant in the cell into reaction products. The macroscopic (or average) reaction rate of the reactant in the cell depends on the speed of those deflagration waves and on the average distance between neighboring hot spots. Here we simulate the propagation of deflagration waves out of hot spots on the mesoscale in axial symmetry using a 2D hydrocode, to which we add heat conduction and bulk reaction. The propagation speed of the deflagration waves may depend on both pressure and temperature. It depends on pressure for quasistatic loading near ambient temperature, and on temperature at high temperatures resulting from shock loading. From the simulation we obtain deflagration fronts emanating out of the hot spots. For 8 to 13 GPa shocks, the emanating fronts propagate as deflagration waves to consume the explosive between hot spots. For higher shock levels deflagration waves may interact with the sweeping shock to become detonation waves on the mesoscale. From the simulation results we extract average deflagration wave speeds.

Mitochondrial DNA mutations in mutator mice confer respiration defects and B-cell lymphoma development.

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Takayuki Mito

Full Text Available Mitochondrial DNA (mtDNA mutator mice are proposed to express premature aging phenotypes including kyphosis and hair loss (alopecia due to their carrying a nuclear-encoded mtDNA polymerase with a defective proofreading function, which causes accelerated accumulation of random mutations in mtDNA, resulting in expression of respiration defects. On the contrary, transmitochondrial mito-miceΔ carrying mtDNA with a large-scale deletion mutation (ΔmtDNA also express respiration defects, but not express premature aging phenotypes. Here, we resolved this discrepancy by generating mtDNA mutator mice sharing the same C57BL/6J (B6J nuclear background with that of mito-miceΔ. Expression patterns of premature aging phenotypes are very close, when we compared between homozygous mtDNA mutator mice carrying a B6J nuclear background and selected mito-miceΔ only carrying predominant amounts of ΔmtDNA, in their expression of significant respiration defects, kyphosis, and a short lifespan, but not the alopecia. Therefore, the apparent discrepancy in the presence and absence of premature aging phenotypes in mtDNA mutator mice and mito-miceΔ, respectively, is partly the result of differences in the nuclear background of mtDNA mutator mice and of the broad range of ΔmtDNA proportions of mito-miceΔ used in previous studies. We also provided direct evidence that mtDNA abnormalities in homozygous mtDNA mutator mice are responsible for respiration defects by demonstrating the co-transfer of mtDNA and respiration defects from mtDNA mutator mice into mtDNA-less (ρ(0 mouse cells. Moreover, heterozygous mtDNA mutator mice had a normal lifespan, but frequently developed B-cell lymphoma, suggesting that the mtDNA abnormalities in heterozygous mutator mice are not sufficient to induce a short lifespan and aging phenotypes, but are able to contribute to the B-cell lymphoma development during their prolonged lifespan.

THE BORROWER CHARACTERISTICS IN HOT EQUITY MARKETS

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HALIL DINCER KAYA

2017-06-01

Full Text Available In this study, I examine the characteristics of U.S. corporate borrowers (public debt, private placement, and syndicated loan firms in HOT versus COLD equity markets. My main objective is to see the characteristics of firms that choose debt financing even when the equity market is HOT. HOT equity markets are defined as the top twenty percent of the months in terms of the de-trended number of equity offerings. I find that the HOT equity market borrowers generally have higher market-to-book ratios compared to the COLD market borrowers. Also, in HOT equity markets, the public debt firms (i.e. the corporate bond issuers tend to have fewer tangible assets, the private placement firms tend to be smaller and highly levered, and the syndicated loan firms tend to be smaller, more profitable, and less levered compared to the COLD market firms. When I look at the number of transactions in each market, I find that when the equity market is active (i.e. HOT, the syndicated loan market is even more active. During these periods, the public debt market is also active (although not as much as the equity or the syndicated loan markets. When I look at the sizes of the transactions in each market, I find that the private placements tend to be significantly larger in HOT markets compared to COLD markets. I conclude that while the equity, the public debt, and the syndicated loan markets move together in terms of market activity, the equity market and the private placement markets move together in terms of the size of the transaction.

Pre-cometary ice composition from hot core chemistry.

Science.gov (United States)

Tornow, Carmen; Kührt, Ekkehard; Motschmann, Uwe

2005-10-01

Pre-cometary ice located around star-forming regions contains molecules that are pre-biotic compounds or pre-biotic precursors. Molecular line surveys of hot cores provide information on the composition of the ice since it sublimates near these sites. We have combined a hydrostatic hot core model with a complex network of chemical reactions to calculate the time-dependent abundances of molecules, ions, and radicals. The model considers the interaction between the ice and gas phase. It is applied to the Orion hot core where high-mass star formation occurs, and to the solar-mass binary protostar system IRAS 16293-2422. Our calculations show that at the end of the hot core phase both star-forming sites produce the same prebiotic CN-bearing molecules. However, in the Orion hot core these molecules are formed in larger abundances. A comparison of the calculated values with the abundances derived from the observed line data requires a chemically unprocessed molecular cloud as the initial state of hot core evolution. Thus, it appears that these objects are formed at a much younger cloud stage than previously thought. This implies that the ice phase of the young clouds does not contain CN-bearing molecules in large abundances before the hot core has been formed. The pre-biotic molecules synthesized in hot cores cause a chemical enrichment in the gas phase and in the pre-cometary ice. This enrichment is thought to be an important extraterrestrial aspect of the formation of life on Earth and elsewhere.

Hot chocolate effect

International Nuclear Information System (INIS)

Crawford, F.S.

1982-01-01

The ''hot chocolate effect'' was investigated quantitatively, using water. If a tall glass cylinder is filled nearly completely with water and tapped on the bottom with a softened mallet one can detect the lowest longitudinal mode of the water column, for which the height of the water column is one-quarter wavelength. If the cylinder is rapidly filled with hot tap water containing dissolved air the pitch of that mode may descend by nearly three octaves during the first few seconds as the air comes out of solution and forms bubbles. Then the pitch gradually rises as the bubbles float to the top. A simple theoretical expression for the pitch ratio is derived and compared with experiment. The agreement is good to within the 10% accuracy of the experiments

Hot Water Bathing Impairs Training Adaptation in Elite Teen Archers.

Science.gov (United States)

Hung, Ta-Cheng; Liao, Yi-Hung; Tsai, Yung-Shen; Ferguson-Stegall, Lisa; Kuo, Chia-Hua; Chen, Chung-Yu

2018-04-30

Despite heat imposes considerable physiological stress to human body, hot water immersion remains as a popular relaxation modality for athletes. Here we examined the lingering effect of hot tub relaxation after training on performance-associated measures and dehydroepiandrosterone sulfate (DHEA-S) in junior archers. Ten national level archers, aged 16.6 ± 0.3 years (M = 8, F = 2), participated in a randomized counter-balanced crossover study after baseline measurements. In particular, half participants were assigned to the hot water immersion (HOT) group, whereas another halves were assigned to the untreated control (CON) group. Crossover trial was conducted following a 2-week washout period. During the HOT trial, participants immersed in hot water for 30 min at 40°C, 1 h after training, twice a week (every 3 days) for 2 weeks. Participants during CON trial sat at the same environment without hot water after training. Performance-associated measures and salivary DHEA-S were determined 3 days after the last HOT session. We found that the HOT intervention significantly decreased shooting performance (CON: -4%; HOT: -22%, P HOT: -16%, P HOT: -60%, P < 0.05) of archers, compared with untreated CON trial. No group differences were found in motor unit recruitment (root mean square electromyography, RMS EMG) of arm muscles during aiming, autonomic nervous activity (sympathetic and vagal powers of heart rate variability, HRV), and plasma cortisol levels after treatments. Our data suggest that physiological adaptation against heat exposure takes away the sources needed for normal training adaptation specific to shooting performance in archers.

Mutations induced by ultraviolet light

International Nuclear Information System (INIS)

Pfeifer, Gerd P.; You, Young-Hyun; Besaratinia, Ahmad

2005-01-01

The different ultraviolet (UV) wavelength components, UVA (320-400 nm), UVB (280-320 nm), and UVC (200-280 nm), have distinct mutagenic properties. A hallmark of UVC and UVB mutagenesis is the high frequency of transition mutations at dipyrimidine sequences containing cytosine. In human skin cancers, about 35% of all mutations in the p53 gene are transitions at dipyrimidines within the sequence 5'-TCG and 5'-CCG, and these are localized at several mutational hotspots. Since 5'-CG sequences are methylated along the p53 coding sequence in human cells, these mutations may be derived from sunlight-induced pyrimidine dimers forming at sequences that contain 5-methylcytosine. Cyclobutane pyrimidine dimers (CPDs) form preferentially at dipyrimidines containing 5-methylcytosine when cells are irradiated with UVB or sunlight. In order to define the contribution of 5-methylcytosine to sunlight-induced mutations, the lacI and cII transgenes in mouse fibroblasts were used as mutational targets. After 254 nm UVC irradiation, only 6-9% of the base substitutions were at dipyrimidines containing 5-methylcytosine. However, 24-32% of the solar light-induced mutations were at dipyrimidines that contain 5-methylcytosine and most of these mutations were transitions. Thus, CPDs forming preferentially at dipyrimidines with 5-methylcytosine are responsible for a considerable fraction of the mutations induced by sunlight in mammalian cells. Using mouse cell lines harboring photoproduct-specific photolyases and mutational reporter genes, we showed that CPDs (rather than 6-4 photoproducts or other lesions) are responsible for the great majority of UVB-induced mutations. An important component of UVB mutagenesis is the deamination of cytosine and 5-methylcytosine within CPDs. The mutational specificity of long-wave UVA (340-400 nm) is distinct from that of the shorter wavelength UV and is characterized mainly by G to T transversions presumably arising through mechanisms involving oxidized DNA

Hot spot manifestation in eclipsing dwarf nova HT Cassiopeiae

OpenAIRE

Bakowska, K.; Olech, A.

2014-01-01

We report the detection of the hot spot in light curves of the eclipsing dwarf nova HT Cassiopeiae during its superoutburst in 2010 November. Analysis of eight reconstructed light curves of the hot spot eclipses showed directly that the brightness of the hot spot was changing significantly during the superoutburst. Thereby, detected hot spot manifestation in HT Cas is the newest observational evidence for the EMT model for dwarf novae.

Ab initio study of hot electrons in GaAs

OpenAIRE

Bernardi, Marco; Vigil-Fowler, Derek; Ong, Chin Shen; Neaton, Jeffrey B.; Louie, Steven G.

2015-01-01

Hot carrier dynamics critically impacts the performance of electronic, optoelectronic, photovoltaic, and plasmonic devices. Hot carriers lose energy over nanometer lengths and picosecond timescales and thus are challenging to study experimentally, whereas calculations of hot carrier dynamics are cumbersome and dominated by empirical approaches. In this work, we present ab initio calculations of hot electrons in gallium arsenide (GaAs) using density functional theory and many-body perturbation...

Hot complaint intelligent classification based on text mining

Directory of Open Access Journals (Sweden)

XIA Haifeng

2013-10-01

Full Text Available The complaint recognizer system plays an important role in making sure the correct classification of the hot complaint,improving the service quantity of telecommunications industry.The customers’ complaint in telecommunications industry has its special particularity which should be done in limited time,which cause the error in classification of hot complaint.The paper presents a model of complaint hot intelligent classification based on text mining,which can classify the hot complaint in the correct level of the complaint navigation.The examples show that the model can be efficient to classify the text of the complaint.

Mutation direction by irradiation in rice

International Nuclear Information System (INIS)

Wang Cailian; Chen Qiufang; Jin Wei; Lu Yimei

2001-01-01

The mutation directions of rice were studied. The results indicated that the mutation directions of rice induced by 14 C were invert correlation to their genetic backgrounds of tested rice varieties, i.e. early mature and short stem varieties produced later mature and higher stem mutation; late mature and high stem varieties produced earlier mature and shorter stem mutation; the varieties of middle maturity and height produced both direction mutations of earlier and later maturity or shorter and higher stem. The mutation directions induced by 14 C were also related to treated doses and stages. Frequency of earlier maturity mutation by protons treatment were higher than those induced by other mutagens. Frequency of later maturity by γ-rays were higher than those induced by other mutagens. Frequency of short stem mutation by synchronous irradiation (soft X-rays) were higher than those induced by other mutagens. Frequency of beneficial mutation induced by proton treatment were higher than those induced by γ-rays

PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers.

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Filip Janku

Full Text Available Oncogenic mutations of PIK3CA, RAS (KRAS, NRAS, and BRAF have been identified in various malignancies, and activate the PI3K/AKT/mTOR and RAS/RAF/MEK pathways, respectively. Both pathways are critical drivers of tumorigenesis.Tumor tissues from 504 patients with diverse cancers referred to the Clinical Center for Targeted Therapy at MD Anderson Cancer Center starting in October 2008 were analyzed for PIK3CA, RAS (KRAS, NRAS, and BRAF mutations using polymerase chain reaction-based DNA sequencing.PIK3CA mutations were found in 54 (11% of 504 patients tested; KRAS in 69 (19% of 367; NRAS in 19 (8% of 225; and BRAF in 31 (9% of 361 patients. PIK3CA mutations were most frequent in squamous cervical (5/14, 36%, uterine (7/28, 25%, breast (6/29, 21%, and colorectal cancers (18/105, 17%; KRAS in pancreatic (5/9, 56%, colorectal (49/97, 51%, and uterine cancers (3/20, 15%; NRAS in melanoma (12/40, 30%, and uterine cancer (2/11, 18%; BRAF in melanoma (23/52, 44%, and colorectal cancer (5/88, 6%. Regardless of histology, KRAS mutations were found in 38% of patients with PIK3CA mutations compared to 16% of patients with wild-type (wtPIK3CA (p = 0.001. In total, RAS (KRAS, NRAS or BRAF mutations were found in 47% of patients with PIK3CA mutations vs. 24% of patients wtPIK3CA (p = 0.001. PIK3CA mutations were found in 28% of patients with KRAS mutations compared to 10% with wtKRAS (p = 0.001 and in 20% of patients with RAS (KRAS, NRAS or BRAF mutations compared to 8% with wtRAS (KRAS, NRAS or wtBRAF (p = 0.001.PIK3CA, RAS (KRAS, NRAS, and BRAF mutations are frequent in diverse tumors. In a wide variety of tumors, PIK3CA mutations coexist with RAS (KRAS, NRAS and BRAF mutations.

Effects of hot-air and hybrid hot air-microwave drying on drying kinetics and textural quality of nectarine slices

Science.gov (United States)

Miraei Ashtiani, Seyed-Hassan; Sturm, Barbara; Nasirahmadi, Abozar

2018-04-01

Drying and physicochemical characteristics of nectarine slices were investigated using hot-air and hybrid hot air-microwave drying methods under fixed air temperature and air speed (50 °C and 0.5 m/s, respectively). Microwave power levels for the combined hot air-microwave method were 80, 160, 240, and 320 W. Drying kinetics were analyzed and compared using six mathematical models. For both drying methods the model with the best fitness in explaining the drying behavior was the Midilli-Kucuk model. The coefficient of determination ( R 2), root mean square error (RMSE) and reduced chi square ( χ 2) for this model have been obtained greater than 0.999 and less than 0.006 and 0.0001 for hybrid hot air-microwave drying while those values for hot-air drying were more than 0.999 and less than 0.003 and 0.0001, respectively. Results showed that the hybrid method reduced the drying time considerably and produced products with higher quality. The range of effective moisture diffusivity ( D eff ) of hybrid and hot-air drying was between 8.15 × 10-8 and 2.83 × 10-7 m2/s and 1.27 × 10-8 m2/s, respectively. The total color difference (ΔE) has also been obtained from 36.68 to 44.27 for hybrid method; however this value for hot-air drying was found 49.64. Although reduced microwave power output led to a lower drying rate, it reduced changes in product parameters i.e. total color change, surface roughness, shrinkage and microstructural change and increased hardness and water uptake.

Slow hot carrier cooling in cesium lead iodide perovskites

Science.gov (United States)

Shen, Qing; Ripolles, Teresa S.; Even, Jacky; Ogomi, Yuhei; Nishinaka, Koji; Izuishi, Takuya; Nakazawa, Naoki; Zhang, Yaohong; Ding, Chao; Liu, Feng; Toyoda, Taro; Yoshino, Kenji; Minemoto, Takashi; Katayama, Kenji; Hayase, Shuzi

2017-10-01

Lead halide perovskites are attracting a great deal of interest for optoelectronic applications such as solar cells, LEDs, and lasers because of their unique properties. In solar cells, heat dissipation by hot carriers results in a major energy loss channel responsible for the Shockley-Queisser efficiency limit. Hot carrier solar cells offer the possibility to overcome this limit and achieve energy conversion efficiency as high as 66% by extracting hot carriers. Therefore, fundamental studies on hot carrier relaxation dynamics in lead halide perovskites are important. Here, we elucidated the hot carrier cooling dynamics in all-inorganic cesium lead iodide (CsPbI3) perovskite using transient absorption spectroscopy. We observe that the hot carrier cooling rate in CsPbI3 decreases as the fluence of the pump light increases and the cooling is as slow as a few 10 ps when the photoexcited carrier density is 7 × 1018 cm-3, which is attributed to phonon bottleneck for high photoexcited carrier densities. Our findings suggest that CsPbI3 has a potential for hot carrier solar cell applications.

Impact of Fluoroquinolone Resistance Mutations on Gonococcal Fitness and In Vivo Selection for Compensatory Mutations

Science.gov (United States)

Kunz, Anjali N.; Begum, Afrin A.; Wu, Hong; D'Ambrozio, Jonathan A.; Robinson, James M.; Shafer, William M.; Bash, Margaret C.; Jerse, Ann E.

2012-01-01

Background. Quinolone-resistant Neisseria gonorrhoeae (QRNG) arise from mutations in gyrA (intermediate resistance) or gyrA and parC (resistance). Here we tested the consequence of commonly isolated gyrA91/95 and parC86 mutations on gonococcal fitness. Methods. Mutant gyrA91/95 and parC86 alleles were introduced into wild-type gonococci or an isogenic mutant that is resistant to macrolides due to an mtrR−79 mutation. Wild-type and mutant bacteria were compared for growth in vitro and in competitive murine infection. Results. In vitro growth was reduced with increasing numbers of mutations. Interestingly, the gyrA91/95 mutation conferred an in vivo fitness benefit to wild-type and mtrR−79 mutant gonococci. The gyrA91/95, parC86 mutant, in contrast, showed a slight fitness defect in vivo, and the gyrA91/95, parC86, mtrR−79 mutant was markedly less fit relative to the parent strains. A ciprofloxacin-resistant (CipR) mutant was selected during infection with the gyrA91/95, parC86, mtrR−79 mutant in which the mtrR−79 mutation was repaired and the gyrA91 mutation was altered. This in vivo–selected mutant grew as well as the wild-type strain in vitro. Conclusions. gyrA91/95 mutations may contribute to the spread of QRNG. Further acquisition of a parC86 mutation abrogates this fitness advantage; however, compensatory mutations can occur that restore in vivo fitness and maintain CipR. PMID:22492860

Depressurization test on hot gas duct

International Nuclear Information System (INIS)

Tanihira, Masanori; Kunitomi; Kazuhiko; Inagaki, Yoshiyuki; Miyamoto, Yoshiaki; Sato, Yutaka.

1989-05-01

To study the integrity of internal structures and the characteristics in a hot gas duct under the rapid depressurization accident, depressurization tests have been carried out using a test apparatus installed the hot gas duct with the same size and the same structures as that of the High Temperature Engineering Test Reactor (HTTR). The tests have been performed with three parameters: depressurization rate (0.14-3.08 MPa/s) determined by orifice diameter, area of the open space at the slide joint (11.9-2036 mm 2 ), and initial pressure (1.0-4.0 MPa) filled up in a pressure vessel, by using nitrogen gas and helium gas. The maximum pressure difference applied on the internal structures of the hot gas duct was 2.69 MPa on the liner tube and 0.45 MPa on the separating plate. After all tests were completed, the hot gas duct which was used in the tests was disassembled. Inspection revealed that there were no failure and no deformation on the internal structures such as separating plates, insulation layers, a liner tube and a pressure tube. (author)

Experimental approach to Chernobyl hot particles

International Nuclear Information System (INIS)

Tcherkezian, V.; Shkinev, V.; Khitrov, L.; Kolesov, G.

1994-01-01

An experimental approach to the investigation of Chernobyl hot particles and some results are presented in this study. Hot particles (HP) were picked out from soil samples collected during the 1986-1990 radiogeochemical expeditions in the contaminated zone (within 30 km of the Nuclear Power Plant). A number of hot particles were studied to estimate their contribution to the total activity, investigate their surface morphology and determine the size distribution. Hot particles contribution to the total activity in the 30 km zone was found to be not less than 65%. Investigation of HP element composition (by neutron activation analysis and EPMA) and radionuclide composition (direct alpha- and gamma-spectrometry, including determination of Pu and Am in Hp) revealed certain peculiarities of HP, collected in the vicinity of the damaged Nuclear Power Plant. Some particles were shown to contain uranium and fission products in proportion to one another, correlating with those in the partially burnt fuel, which proves their 'fuel' origin. Another part of the HP samples has revealed element fractionation as well as the presence of some terrestrial components. (Author)

Oncogene mutational profile in nasopharyngeal carcinoma

Directory of Open Access Journals (Sweden)

Zhang ZC

2014-03-01

Full Text Available Zi-Chen Zhang,1,* Sha Fu,1,* Fang Wang,1 Hai-Yun Wang,1 Yi-Xin Zeng,2 Jian-Yong Shao11Department of Molecular Diagnostics, 2Department of Experimental Research, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, Guangzhou, People's Republic of China *These authors contributed equally to this work Abstract: Nasopharyngeal carcinoma (NPC is a common tumor in Southern China, but the oncogene mutational status of NPC patients has not been clarified. Using time-of-flight mass spectrometry, 238 mutation hotspots in 19 oncogenes were examined in 123 NPC patients. The relationships between mutational status and clinical data were assessed with a χ2 or Fisher's exact test. Survival analysis was performed using the Kaplan–Meier method with the log-rank test. In 123 patients, 21 (17.1% NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%, five NRAS mutations (4.1%, four KIT mutations (3.3%, two PDGFRA mutations (1.6%, two ABL mutations (1.6%, and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%. Patients with mutations were more likely to relapse or develop metastasis than those with wild-type alleles (P=0.019. No differences or correlations were found in other clinical characteristics or in patient survival. No mutations were detected in oncogenes AKT1, AKT2, CDK, ERBB2, FGFR1, FGFR3, FLT3, JAK2, KRAS, MET, and RET. These results demonstrate an association between NPC and mutations in NRAS, KIT, PIK3CA, PDGFRA, and ABL, which are associated with patient relapse and metastasis. Keywords: NPC, oncogene, mutation

Promethus Hot Leg Piping Concept

International Nuclear Information System (INIS)

AM Girbik; PA Dilorenzo

2006-01-01

The Naval Reactors Prime Contractor Team (NRPCT) recommended the development of a gas cooled reactor directly coupled to a Brayton energy conversion system as the Space Nuclear Power Plant (SNPP) for NASA's Project Prometheus. The section of piping between the reactor outlet and turbine inlet, designated as the hot leg piping, required unique design features to allow the use of a nickel superalloy rather than a refractory metal as the pressure boundary. The NRPCT evaluated a variety of hot leg piping concepts for performance relative to SNPP system parameters, manufacturability, material considerations, and comparison to past high temperature gas reactor (HTGR) practice. Manufacturability challenges and the impact of pressure drop and turbine entrance temperature reduction on cycle efficiency were discriminators between the piping concepts. This paper summarizes the NRPCT hot leg piping evaluation, presents the concept recommended, and summarizes developmental issues for the recommended concept

'Hot particle' intercomparison dosimetry

International Nuclear Information System (INIS)

Kaurin, D.G.L.; Baum, J.W.; Charles, M.W.; Darley, D.P.J.; Durham, J.S.; Scannell, M.J.; Soares, C.G.

1996-01-01

Dosimetry measurements of four 'hot particles' were made at different density thickness values using five different methods. The hot particles had maximum dimensions of 650 μm and maximum beta energies of 0.97, 046, 0.36, and 0.32 MeV. Absorbers were used to obtain the dose at different depths for each dosimeter. Measurements were made using exoelectron dosimeters, an extrapolation chamber, NE Extremity Tape Dosimeters (tm), Eberline RO-2 and RO-2A survey meters, and two sets of GafChromic (tm) dye film with each set read out at a different institution. From these results the dose was calculated averaged over 1 cm 2 of tissue at 18, 70, 125, and 400 μm depth. Comparisons of tissue-dose averaged over 1 cm 2 for 18, 70, and 125 μm depth based on interpolated measured values, were within 30% for the GafChromic (tm) dye film, extrapolation chamber, NE Extremity Tape Dosimeters (tm), and Eberline RO-2 and 2A (tm) survey meters except for the hot particle with 0.46 MeV maximum beta energy. The results for this source showed differences of up to 60%. The extrapolation chamber and NE Extremity Tape dosimeters under-responded for measurements at 400 μm by about a factor of 2 compared with the GafChromic dye films for two hot particles with maximum beta energy of 0.32 and 0.36 MeV which each emitted two 100% 1 MeV photons per disintegration. Tissue doses determined using exoelectron dosimeters were a factor of 2 to 5 less than those determined using other dosimeters, possibly due to failures of the equipment. (author)

Menopausal Hot Flashes and Carotid Intima Media Thickness Among Midlife Women.

Science.gov (United States)

Thurston, Rebecca C; Chang, Yuefang; Barinas-Mitchell, Emma; Jennings, J Richard; Landsittel, Doug P; Santoro, Nanette; von Känel, Roland; Matthews, Karen A

2016-12-01

There has been a longstanding interest in the role of menopause and its correlates in the development of cardiovascular disease (CVD) in women. Menopausal hot flashes are experienced by most midlife women; emerging data link hot flashes to CVD risk indicators. We tested whether hot flashes, measured via state-of-the-art physiologic methods, were associated with greater subclinical atherosclerosis as assessed by carotid ultrasound. We considered the role of CVD risk factors and estradiol concentrations in these associations. A total of 295 nonsmoking women free of clinical CVD underwent ambulatory physiologic hot flash assessments; a blood draw; and carotid ultrasound measurement of intima media thickness and plaque. Associations between hot flashes and subclinical atherosclerosis were tested in regression models controlling for CVD risk factors and estradiol. More frequent physiologic hot flashes were associated with higher carotid intima media thickness (for each additional hot flash: β [SE]=0.004 [0.001]; P=0.0001; reported hot flash: β [SE]=0.008 [0.002]; P=0.002, multivariable) and plaque (eg, for each additional hot flash, odds ratio [95% confidence interval] plaque index ≥2=1.07 [1.003-1.14]; P=0.04, relative to no plaque, multivariable] among women reporting daily hot flashes; associations were not accounted for by CVD risk factors or by estradiol. Among women reporting hot flashes, hot flashes accounted for more variance in intima media thickness than most CVD risk factors. Among women reporting daily hot flashes, frequent hot flashes may provide information about a woman's vascular status beyond standard CVD risk factors and estradiol. Frequent hot flashes may mark a vulnerable vascular phenotype among midlife women. © 2016 American Heart Association, Inc.

Mutation Breeding Newsletter. No. 39

International Nuclear Information System (INIS)

1992-01-01

This newsletter contains brief articles on the use of radiation to induce mutations in plants; radiation-induced mutants in Chrysanthemum; disrupting the association between oil and protein content in soybean seeds; mutation studies on bougainvillea; a new pepper cultivar; and the use of mutation induction to improve the quality of yam beans. A short review of the seminar on the use of mutation and related biotechnology for crop improvement in the Middle East and Mediterranean regions, and a description of a Co-ordinated Research Programme on the application of DNA-based marker mutations for the improvement of cereals and other sexually reproduced crop species are also included. Two tables are given: these are based on the ''FAO/IAEA Mutant Varieties Database'' and show the number of mutated varieties and the number of officially released mutant varieties in particular crops/species. Refs and tabs

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Science.gov (United States)

Steele-Stallard, Heather B; Le Quesne Stabej, Polona; Lenassi, Eva; Luxon, Linda M; Claustres, Mireille; Roux, Anne-Francoise; Webster, Andrew R; Bitner-Glindzicz, Maria

2013-08-08

Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with Usher type 2 have just one heterozygous disease-causing mutation in USH2A, or no convincing disease-causing mutations across nine Usher genes. The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G. Forty-nine Usher type 2 or atypical Usher families who had missing mutations (mono-allelic USH2A or no mutations following Sanger sequencing of nine Usher genes) were screened for duplications/deletions using the USH2A SALSA MLPA reagent kit (MRC-Holland). Identification of USH2A: c.7595-2144A>G was achieved by Sanger sequencing. Mutations were confirmed by a combination of reverse transcription PCR using RNA extracted from nasal epithelial cells or fibroblasts, and by array comparative genomic hybridisation with sequencing across the genomic breakpoints. Eight mutations were identified in 23 Usher type 2 families (35%) with one previously identified heterozygous disease-causing mutation in USH2A. These consisted of five heterozygous deletions, one duplication, and two heterozygous instances of the pathogenic variant USH2A: c.7595-2144A>G. No variants were found in the 15 Usher type 2 families with no previously identified disease-causing mutations. In 11 atypical families, none of whom had any previously identified convincing disease-causing mutations, the mutation USH2A: c.7595-2144A>G was identified in a heterozygous state in one family. All five deletions and the heterozygous duplication we report here are novel. This is the first time that a duplication in USH2A has been reported as a cause of Usher syndrome. We found that 8 of

Radiation in relation to mutation rate, mutational damage and human ill-health

International Nuclear Information System (INIS)

Roberts, P.B.

1976-09-01

The effect of radiation in increasing the frequency of gene mutations is now reasonably understood. We discuss first how an increase in the mutation rate is reflected in the mutational damage expressed in populations. It is shown that the mutational damage, assessed by the loss of fitness in a population or the number of eventual gene extinctions, is equal to the number of new mutations arising per generation or the mutation rate. In a population of stable size, a dose of 1 rem given to 10 6 people leads to roughly 600 gene extinctions when summed over all ensuing generations if the dose is applied to only one generation; this number of extinctions will occur in each succeeding generation if the dose is given to every generation. However, the concept of genetic extinction, although quantifiable, is of limited value in assessing radiation risks since its impact on human ill-health is very speculative. In particular, no estimate can be made of the total cost of effects which are minor in each individual in which they arise, but which, because they are so minor, persist in the population for many generations. The best current estimate is for 14-140 obvious defects in the first few generations following exposure of 10 6 people to a dose of 1 rem. (auth.)

The hot hand belief and framing effects.

Science.gov (United States)

MacMahon, Clare; Köppen, Jörn; Raab, Markus

2014-09-01

Recent evidence of the hot hand in sport-where success breeds success in a positive recency of successful shots, for instance-indicates that this pattern does not actually exist. Yet the belief persists. We used 2 studies to explore the effects of framing on the hot hand belief in sport. We looked at the effect of sport experience and task on the perception of baseball pitch behavior as well as the hot hand belief and free-throw behavior in basketball. Study 1 asked participants to designate outcomes with different alternation rates as the result of baseball pitches or coin tosses. Study 2 examined basketball free-throw behavior and measured predicted success before each shot as well as general belief in the hot hand pattern. The results of Study 1 illustrate that experience and stimulus alternation rates influence the perception of chance in human performance tasks. Study 2 shows that physically performing an act and making judgments are related. Specifically, beliefs were related to overall performance, with more successful shooters showing greater belief in the hot hand and greater predicted success for upcoming shots. Both of these studies highlight that the hot hand belief is influenced by framing, which leads to instability and situational contingencies. We show the specific effects of framing using accumulated experience of the individual with the sport and knowledge of its structure and specific experience with sport actions (basketball shots) prior to judgments.

ON THE FORMATION OF HOT DQ WHITE DWARFS

International Nuclear Information System (INIS)

Althaus, L. G.; Corsico, A. H.; Miller Bertolami, M. M.; Romero, A. D.; GarcIa-Berro, E.

2009-01-01

We present the first full evolutionary calculations aimed at exploring the origin of hot DQ white dwarfs. These calculations consistently cover the whole evolution from the born-again stage to the white dwarf cooling track. Our calculations provide strong support for the diffusive/convective mixing picture for the formation of hot DQs. We find that the hot DQ stage is a short-lived stage and that the range of effective temperatures where hot DQ stars are found can be accounted for by different masses of residual helium and/or different initial stellar masses. In the frame of this scenario, a correlation between the effective temperature and the surface carbon abundance in DQs should be expected, with the largest carbon abundances expected in the hottest DQs. From our calculations, we suggest that most of the hot DQs could be the cooler descendants of some PG 1159 stars characterized by He-rich envelopes markedly smaller than those predicted by the standard theory of stellar evolution. At least for one hot DQ, the high-gravity white dwarf SDSS J142625.70+575218.4, an evolutionary link between this star and the massive PG 1159 star H1504+65, is plausible.

Introduction of hot cell facility in research center Rez - Poster

International Nuclear Information System (INIS)

Petrickova, A.; Srba, O.; Miklos, M.; Svoboda, P.

2015-01-01

This poster presents the hot cell facility which is being constructed as part of the SUSEN project at the Rez research center (Czech Republic). Within this project a new complex of 10 hot cells and one semi-hot cell will be built. There will be 8 gamma hot cells and 2 alpha hot cells. In each hot cell a hermetic, removable box made of stainless steel will home different type of devices. The hot cells and semi hot cell will be equipped with devices for processing samples (cutting, welding, drilling, machining) as well as equipment for testing (sample preparation area, stress testing machine, fatigue machine, electromechanical creep machine, high frequency resonance pulsator...) and equipment for studying material microstructure (nano-indenter with nano-scratch tester and scanning electron microscope). An autoclave with water loop, installed in a cell will allow mechanical testing in control environment of water, pressure and temperature. A scheme shows the equipment of each cell. This hot laboratory will be able to cover all the process to study radioactive materials: receiving the material, the preparation of the samples, mechanical testing and microstructure observation. Our hot cells will be close to the research nuclear reactor LVR-15 and new irradiation facility (high irradiation by cobalt source) is planned to be built within the SUSEN project

Hot stamping advanced manufacturing technology of lightweight car body

CERN Document Server

Hu, Ping; He, Bin

2017-01-01

This book summarizes the advanced manufacturing technology of original innovations in hot stamping of lightweight car body. A detailed description of the technical system and basic knowledge of sheet metal forming is given, which helps readers quickly understand the relevant knowledge in the field. Emphasis has been placed on the independently developed hot stamping process and equipment, which help describe the theoretical and experimental research on key problems involving stress field, thermal field and phase transformation field in hot stamping process. Also, a description of the formability at elevated temperature and the numerical simulation algorithms for high strength steel hot stamping is given in combination with the experiments. Finally, the book presents some application cases of hot stamping technology such as the lightweight car body design using hot stamping components and gradient hardness components, and the cooling design of the stamping tool. This book is intended for researchers, engineers...

Hot Weather Tips

Science.gov (United States)

... the person plenty of water and fruit or vegetable juice even if they say they’re not thirsty. No alcohol, coffee or tea. Seek medical help if you suspect dehydration. Light meals: Avoid hot, heavy meals and don’ ...

Cause of Damage. Hot cracking; Schadensursache Heissrissigkeit

Energy Technology Data Exchange (ETDEWEB)

Wader, Therese [BENTELER Steel/Tube GmbH, Paderborn (Germany). Vorentwicklung Werkstoffe

2016-10-15

Under certain conditions, Nb-containing stainless steels are susceptible to hot cracking. Such conditions include low melting phases on the grain boundaries, a coarse-grained microstructure such as cast structures, microstructure orientations towards the main tensile direction and high processing temperatures. The case of damage was characterized using metallographic and microanalytical methods. In the laboratory, the critical temperature range for the formation of hot cracks could furthermore specifically be localized under mechanical stresses by means of a dilatometer aiming at clearly verifying the cause of the damage, namely ''hot cracks''.

Hot Mix Asphalt Recycling: Practices and Principles

OpenAIRE

Mohajeri, M.

2015-01-01

Hot mix asphalt recycling has become common practice all over the world since the 1970s because of the crisis in oil prices. In the Netherlands, hot recycling has advanced to such an extent that in most of the mixtures more than 50% of reclaimed asphalt (RA) is allowed. These mixtures with such a high RA content are produced in a batch plant to which a parallel drum is attached. In this drum RA is pre-heated to approximately 130°C. Since 2007 another hot mix recycling techniques became availa...

Hot nuclei: high temperatures, high angular momenta

International Nuclear Information System (INIS)

Guerreau, D.

1991-01-01

A review is made of the present status concerning the production of hot nuclei above 5 MeV temperature, concentrating mainly on the possible experimental evidences for the attainment of a critical temperature, on the existence of dynamical limitations to the energy deposition and on the experimental signatures for the formation of hot spinning nuclei. The data strongly suggest a nuclear disassembly in collisions involving very heavy ions at moderate incident velocities. Furthermore, hot nuclei seem to be quite stable against rotation on a short time scale. (author) 26 refs.; 12 figs

Radiation-induced mutation at minisatellite loci

International Nuclear Information System (INIS)

Dubrova, Y.E.; Nesterov, V.N.; Krouchinsky, N.G.

1997-01-01

We are studying the radiation-induced increase of mutation rate in minisatellite loci in mice and humans. Minisatellite mutations were scored by multilocus DNA fingerprint analysis in the progeny of γ-irradiated and non-irradiated mice. The frequency of mutation in offspring of irradiated males was 1.7 higher that in the control group. Germline mutation at human minisatellite loci was studied among children born in heavily polluted areas of the Mogilev district of Belarus after the Chernobyl accident and in a control population. The frequency of mutation assayed both by DNA fingerprinting and by eight single locus probes was found to be two times higher in the exposed families than in the control group. Furthermore, mutation rate was correlated with the parental radiation dose for chronic exposure 137 Cs, consistent with radiation-induction of germline mutation. The potential use of minisatellites in monitoring germline mutation in humans will be discussed

AIP mutations and gigantism.

Science.gov (United States)

Rostomyan, Liliya; Potorac, Iulia; Beckers, Pablo; Daly, Adrian F; Beckers, Albert

2017-06-01

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Hot water reticulation

Energy Technology Data Exchange (ETDEWEB)

Fellows, S. K.

1977-10-15

Hot water reticulation (district heating) is an established method of energy supply within cities in many countries. It is based on the fact that heat can often be obtained cheaply in bulk, and that the resultant savings can, in suitable circumstances, justify the investment in a reticulation network of insulated pipes to distribute the heat to many consumers in the form of hot water or occasionally steam. The heat can be used by domestic, commercial, and industrial consumers for space heating and water heating, and by industries for process heat. The costs of supplying domestic consumers can be determined by considering an average residential area, but industrial and commercial consumers are so varied in their requirements that every proposal must be treated independently. Fixed costs, variable costs, total costs, and demand and resource constraints are discussed.

Analysis of hot rolling and hot forging effects on mechanical properties and microstructure of ZrNbMoGe alloy

International Nuclear Information System (INIS)

AH Ismoyo; Parikin; Bandriyana

2014-01-01

Research on formation technique by a combined method of rolling and forging has been carried out in order to improve the mechanical properties of ZrNbMoGe alloy to be used as fuel cladding in NPP (Nuclear Power Plant) application. The effects of rolling and forging were analyzed several tests. The tests were conducted for zirconium alloy specimen with a composition of (in % wt.) 97% Zr, 0,5% Mo, 2% Nb and 0,5% Ge, where the specimen was melted with an arc-furnace. The hot rolling and forging were conducted at 900 °C and 950 °C respectively. Hardness test was carried out by using a microhardness testing machine, while microstructure examination and crystal structure analysis were conducted with an optical microscope and an X-ray diffractometer. The results show that the hardness of the alloy increase from 141.21 HV (starting material) to 210.47 HV (hot rolled material) and 365.75 HV (hot forged material). Texturing phenomenon is clearly figured on the microstructure due to hot rolling and forging process. Analysis by diffractogram also indicates that the hot rolling and forging process has influence on the crystal orientation of dominant preferred direction in the reflection plane of (10ī1), recorded from the rise of intensity counting from about 2500 to 3000. In summary, hot forging and rolling process can change the mechanical properties (hardness and texture) and microstructure of materials. (author)

Mutational specificity of γ-rays

International Nuclear Information System (INIS)

Hoebee, Barbara.

1990-01-01

The aim of the study described in this thesis was to get more information on the mutagenic properties of radiation-induced DNA modifications and the possible mechanisms involved in radiation-induced mutagenesis, principally by investigating the kinds of mutations by DNA sequence analysis. The mutations were analyzed after γ-irradiation of recombinant bacteriophage M13 and plasmide pUC DNA in diluted aqueous solutions, followed by transfection or transformation to E. coli cells, in which the damaged DNA molecules are repaired and replicated. Error-prone repair, misrepair or bypass of lesions during replication may lead to the introduction of mutations. Both the M13 and the plasmid DNA used in our mutation studies contain a mutation target sequence, which makes an easy selection and sequence analysis of mutant DNA molecules possible. Under the radiation conditions used, e.g. irradiation of diluted aqueous DNA solutions, only DNA damage occurs introduced by the water derived OH* and H* radicals and the hydrated electrons. By using different gas conditions during irradiation the relative yields of these reaction species can be manipulated, which opens up the opportunity to determine their effects separately. The mutation spectrum obtained in double-stranded (ds) M13DNA after irradiation under oxic conditions and the mutation spectrum obtained under the same conditions and in the same mutation target but cloned in plasmid DNA, are described. The mutation specificity under anoxic conditions in ds M13DNA is given. Results obtained after irradiation of ds M13DNA under N 2 conditions are discussed together with experiments with single-stranded DNA. Similarities and differences between radiation-induced mutation spectra obtained by other groups and those presented in this thesis are discussed. (author). 155 refs.; 134 figs.; 16 tabs

Calreticulin Mutations in Bulgarian MPN Patients.

Science.gov (United States)

Pavlov, Ivan; Hadjiev, Evgueniy; Alaikov, Tzvetan; Spassova, Sylva; Stoimenov, Angel; Naumova, Elissaveta; Shivarov, Velizar; Ivanova, Milena

2018-01-01

Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). We applied four molecular genetic methods for identification of CALR exon 9 mutations, including high resolution melt (HRM) analysis, Sanger sequencing, semiconductor target genes sequencing and whole exome sequencing. A total of 78 patients with myeloid malignancies were included in the study. We identified 14 CALR exon 9 mutated cases out of 78 studied patients with myeloid malignancies. All mutated patients were diagnosed with MPN being either PMF (n = 7) or ET (n = 7). Nine cases had type 1 mutations and 5 cases had type 2 mutations. CALR exon 9, MPL exon 10 and JAK2 p. V617F were mutually exclusive. There were no statistically significant differences in the hematological parameters between the cases with CALR and JAK2 or MPL mutations. Notably, all four techniques were fully concordant in the detection of CALR mutations. This is one of the few reports on the CALR mutations frequency in South-eastern populations. Our study shows that the frequency and patterns of these mutations is identical to those in the patients' cohorts from Western countries. Besides we demonstrated the utility of four different methods for their detection.

Hot spots on Tc-99m MAA perfusion lung scan

International Nuclear Information System (INIS)

Lim, Seok Tae; Sohn, Myung Hee

2001-01-01

A 61 year-old woman underwent perfusion and inhalation lung scan for the evaluation of pulmonary thromboembolism. Tc-99m MAA perfusion lung scan showed multiple round hot spots in both lung fields. Tc-99m DTPA aerosol inhalation lung scan and chest radiography taken at the same time showed normal findings. A repeated perfusion lung scan taken 24 hours later demonstrated no abnormalities. Hot spots on perfusion lung scan can be caused by microsphere clumping due to faulty injection technique by radioactive embolization from upper extremity thrombophlebitis after injection. Focal hot spots can signify zones of atelectasis, where the hot spots probably represent a failure of hypoxic vasoconstriction. Artifactual hot spots due to microsphere clumping usually appear to be round and in peripheral location, and the lesions due to a loss of hypoxic vasoconstriction usually appear to be hot uptakes having linear borders. Although these artifactual hot spots have been well-known, we rarely encounter them. This report presents a case with artifactual hot spots due to microsphere clumping on Tc-99m MAA perfusion lung scan

Hot Jupiters Aren't As Lonely As We Thought

Science.gov (United States)

Kohler, Susanna

2016-01-01

The Friends of Hot Jupiters (FOHJ) project is a systematic search for planetary- and stellar-mass companions in systems that have known hot Jupiters short-period, gas-giant planets. This survey has discovered that many more hot Jupiters may have companions than originally believed.Missing FriendsFOHJ was begun with the goal of better understanding the systems that host hot Jupiters, in order to settle several longstanding issues.The first problem was one of observational statistics. We know that roughly half of the Sun-like stars nearby are in binary systems, yet weve only discovered a handful of hot Jupiters around binaries. Are binary systems less likely to host hot Jupiters? Or have we just missed the binary companions in the hot-Jupiter-hosting systems weve seen so far?An additional issue relates to formation mechanisms. Hot Jupiters probably migrated inward from where they formed out beyond the ice lines in protoplanetary disks but how?This median-stacked image, obtained with adaptive optics, shows one of the newly-discovered stellar companions to a star hosting a hot Jupiter. The projected separation is ~180 AU. [Ngo et al. 2015]Observations reveal two populations of hot Jupiters: those with circular orbits aligned with their hosts spins, and those with eccentric, misaligned orbits. The former population support a migration model dominated by local planet-disk interactions, whereas the latter population suggest the hot Jupiters migrated through dynamical interactions with distant companions. A careful determination of the companion rate in hot-Jupiter-hosting systems could help establish the ability of these two models to explain the observed populations.Search for CompanionsThe FOHJ project began in 2012 and studied 51 systems hosting known, transiting hot Jupiters with roughly half on circular, aligned orbits and half on eccentric, misaligned orbits. The survey consisted of three different, complementary components:Study 1Lead author: Heather Knutson

Interplay of hot electrons from localized and propagating plasmons.

Science.gov (United States)

Hoang, Chung V; Hayashi, Koki; Ito, Yasuo; Gorai, Naoki; Allison, Giles; Shi, Xu; Sun, Quan; Cheng, Zhenzhou; Ueno, Kosei; Goda, Keisuke; Misawa, Hiroaki

2017-10-03

Plasmon-induced hot-electron generation has recently received considerable interest and has been studied to develop novel applications in optoelectronics, photovoltaics and green chemistry. Such hot electrons are typically generated from either localized plasmons in metal nanoparticles or propagating plasmons in patterned metal nanostructures. Here we simultaneously generate these heterogeneous plasmon-induced hot electrons and exploit their cooperative interplay in a single metal-semiconductor device to demonstrate, as an example, wavelength-controlled polarity-switchable photoconductivity. Specifically, the dual-plasmon device produces a net photocurrent whose polarity is determined by the balance in population and directionality between the hot electrons from localized and propagating plasmons. The current responsivity and polarity-switching wavelength of the device can be varied over the entire visible spectrum by tailoring the hot-electron interplay in various ways. This phenomenon may provide flexibility to manipulate the electrical output from light-matter interaction and offer opportunities for biosensors, long-distance communications, and photoconversion applications.Plasmon-induced hot electrons have potential applications spanning photodetection and photocatalysis. Here, Hoang et al. study the interplay between hot electrons generated by localized and propagating plasmons, and demonstrate wavelength-controlled polarity-switchable photoconductivity.

The effect of cushion-ram pulsation on hot stamping

Science.gov (United States)

Landgrebe, Dirk; Rautenstrauch, Anja; Kunke, Andreas; Polster, Stefan; Kriechenbauer, Sebastian; Mauermann, Reinhard

2016-10-01

Hot stamping is an important technology for manufacturing high-strength components. This technology offers the possibility to achieve significant weight reductions. In this study, cushion-ram pulsation (CRP), a new technology for hot stamping on servo-screw presses, was investigated and applied for hot stamping. Compared to a conventional process, the tests yielded a significantly higher drawing depth. In this paper, the CRP technology and the first test results with hot stamping were described in comparison to the conventional process.

Properties of hot pressed MgB2/Ti tapes

International Nuclear Information System (INIS)

Kovac, P.; Husek, I.; Melisek, T.; Fedor, J.; Cambel, V.; Morawski, A.; Kario, A.

2009-01-01

Hot axial and hot isostatic pressing was applied for single-core MgB 2 /Ti tapes. Differences in transport current density, n-exponents and critical current anisotropy are discussed and related to the grain connectivity influenced by pressing. The magnetic Hall probe scanning measurements allowed observing the isolated regions for axially hot pressed sample attributed to the longitudinally oriented cracks introduced by pressing. The highest current densities were measured for the tape subjected to hot isostatic pressing due to improved connectivity.

Mutation spectrum produced on PBR322 by 8-Methoxypsoralen plus UV-A light. Localizacion puntual de mutaciones producidas en PBR322 por tratamiento con 8-metoxipsoraleno mas luz ultravioleta-A

Energy Technology Data Exchange (ETDEWEB)

Bauluz, C.; Vidania, R.

1990-01-01

The mutagenic effect of 8-MOP+UVA (PUVA treatment) on pBR322 has been analysed by determining the frequency of mutation in the tet gene and identifying the type and position of the mutations produced inside a 276 pb-fragment (Bam-H1-SalI) of the same gene. pBR322 DNA was irradiated with UVA light in the presence of increasing concentrations of 8-Methoxypsoralen (8-MOP). The number of psoralen adducts formed in pBR322 upon that treatment ranged from 0 to 10.7 adducts per plasmid molecule. Modified DNA samples were used to transform several strains of E. Coli (differing in their repair capacities), both in constitutive conditions and after sos pre-induction by 254 nm-irradiation of cells. Mutation frequencies in the tet gene showed to increase in the wild type and uvrA strains along with the number of psoralen adduts per plasmid molecule; higher mutation frequencies were found in cells that had been previously irradiated to induce the SOS expression. Mutant plasmids were isolated from ApRTcS colonies and sequenced by the method of Maxam and Gilbert. Mutations appeared to be unique in most of the cases and were always punctual, i.e. affecting only to one base pair. The relative positions of the mutations showed a high frequency of coincidence among the sequenced fragments, indicating the existence of several DNA regions with high probability to mutated ([sup h]ot spots[sup )]. (author)

Mutation spectrum produced on PBR322 by 8-Methoxypsoralen plus UV-A light; Localizacion puntual de mutaciones producidas en PBR322 por tratamiento con 8-metoxipsoraleno mas luz ultravioleta-A

Energy Technology Data Exchange (ETDEWEB)

Bauluz, C.; Vidania, R.

1990-12-31

The mutagenic effect of 8-MOP+UVA (PUVA treatment) on pBR322 has been analysed by determining the frequency of mutation in the tet gene and identifying the type and position of the mutations produced inside a 276 pb-fragment (Bam-H1-SalI) of the same gene. pBR322 DNA was irradiated with UVA light in the presence of increasing concentrations of 8-Methoxypsoralen (8-MOP). The number of psoralen adducts formed in pBR322 upon that treatment ranged from 0 to 10.7 adducts per plasmid molecule. Modified DNA samples were used to transform several strains of E. Coli (differing in their repair capacities), both in constitutive conditions and after sos pre-induction by 254 nm-irradiation of cells. Mutation frequencies in the tet gene showed to increase in the wild type and uvrA strains along with the number of psoralen adduts per plasmid molecule; higher mutation frequencies were found in cells that had been previously irradiated to induce the SOS expression. Mutant plasmids were isolated from ApRTcS colonies and sequenced by the method of Maxam and Gilbert. Mutations appeared to be unique in most of the cases and were always punctual, i.e. affecting only to one base pair. The relative positions of the mutations showed a high frequency of coincidence among the sequenced fragments, indicating the existence of several DNA regions with high probability to mutated ({sup h}ot spots{sup )}. (author)

(Microbiological studies of small hot-bath-pools and hot-whirl-pools (author's transl))

Energy Technology Data Exchange (ETDEWEB)

Exner, M; Havenith, N

1981-01-01

Hot small bathing pools and hot whirl-pools have the following characteristics: small watervolume, thick squeeze of swimmers, high water temperature (37-40 degrees C) and small dimension of filters. By this, the quality of bathing-water is influenced detrimentally. To elaborate the hygienic problems, bathing-water samples were taken before, during and after the visiting-hours and were tested for facultative-pathogenic microorganisms. During this investigation E. coli was isolated in 25 degrees, Coliforms and Proteus species in 37.3%, P. aeruginosa in 36%, S. aureus in 26.3%, Enterococci in 42.3 %, Candida albicans in 3.6% and yeast totally in 8.3%.

HOT AEROSOL FIRE EXTINGUISHING AGENTS AND THE ASSOCIATED TECHNOLOGIES: A REVIEW

Directory of Open Access Journals (Sweden)

Xiaotian Zhang

2015-09-01

Full Text Available AbstractSince the phase out of Halon extinguishers in the 1980s, hot aerosol fire suppression technology has gained much attention. Unlike traditional inert gas, foam, water mist and Halon fire suppression agents, hot aerosol fire extinguishing agents do not need to be driven out by pressurized gases and can extinguish class A, B, C, D and K fires at 30 to 200 g/m3. Generally, hot aerosol fire extinguishing technology has developed from a generation I oil tank suppression system to a generation III strontium salt based S-type system. S-type hot aerosol fire extinguishing technology greatly solves the corrosion problem of electrical devices and electronics compared to potassium salt based generation I & II hot aerosol fire extinguishing technology. As substitutes for Halon agents, the ODP and GWP values of hot fire extinguishing aerosols are nearly zero, but those fine aerosol particles can cause adverse health effects once inhaled by human. As for configurations of hot aerosol fire extinguishing devices, fixed or portable cylindrical canisters are the most common among generation II & III hot aerosol fire extinguishers across the world, while generation I hot aerosol fire suppression systems are integrated with the oil tank as a whole. Some countries like the U.S., Australia, Russia and China, etc. have already developed standards for manufacturing and quality control of hot aerosol fire extinguishing agents and norms for hot aerosol fire extinguishing system design under different fire protection scenarios. Coolants in hot aerosol fire suppression systems, which are responsible for reducing hot aerosol temperature to avoid secondary fire risk are reviewed for the first time. Cooling effects are generally achieved through vaporization and endothermic chemical decomposition of coolants. Finally, this review discussed areas applying generation I, II or III hot aerosol fire suppression technologies. The generation III hot aerosol fire extinguishing

Manual on mutation breeding. 2. ed.

International Nuclear Information System (INIS)

1977-01-01

The manual is a compilation of work done on the use of induced mutations in plant breeding, and presents general methods and techniques in this field. The use of chemical mutagens and ionizing radiations (X-rays, gamma rays, α- and β-particles, protons, neutrons) are described as well as the effects of these mutagens. The different types of mutations achieved can be divided into genome mutations, chromosome mutations and extra nuclear mutations. Separate chapters deal with mutation techniques in breeding seed-propagated species and asexually propagated plants (examples of development of cultivars given). Plant characters which can be improved by mutation breeding include yield, ripening time, growth habit, disease resistance and tolerance to environmental factors (temperature, salinity etc.). The use of mutagens for some specific plant breeding problems is discussed and attention is also paid to somatic cell genetics in connection with induced mutations. The manual contains a comprehensive bibliography (60 p. references) and a subject index

Superconducting Mercury-Based Cuprate Films with a Zero-Resistance Transition Temperature of 124 Kelvin

Science.gov (United States)

Tsuei, C. C.; Gupta, A.; Trafas, G.; Mitzi, D.

1994-03-01

The synthesis of high-quality films of the recently discovered mercury-based cuprate films with high transition temperatures has been plagued by problems such as the air sensitivity of the cuprate precursor and the volatility of Hg and HgO. These processing difficulties have been circumvented by a technique of atomic-scale mixing of the HgO and cuprate precursors, use of a protective cap layer, and annealing in an appropriate Hg and O_2 environment. With this procedure, a zero-resistance transition temperature as high as 124 kelvin in c axis-oriented epitaxial HgBa_2CaCu_2O6+δ films has been achieved.

Superconducting mercury-based cuprate films with a zero-resistance transition temperature of 124 Kelvin.

Science.gov (United States)

Tsuei, C C; Gupta, A; Trafas, G; Mitzi, D

1994-03-04

The synthesis of high-quality films of the recently discovered mercury-based cuprate films with high transition temperatures has been plagued by problems such as the air sensitivity of the cuprate precursor and the volatility of Hg and HgO. These processing difficulties have been circumvented by a technique of atomic-scale mixing of the HgO and cuprate precursors, use of a protective cap layer, and annealing in an appropriate Hg and O(2) environment. With this procedure, a zero-resistance transition temperature as high as 124 kelvin in c axis-oriented epitaxial HgBa(2)CaCu(2)O(6+delta) films has been achieved.

Hot-carrier effects on irradiated deep submicron NMOSFET

International Nuclear Information System (INIS)

Cui Jiangwei; Zheng Qiwen; Yu Xuefeng; Cong Zhongchao; Zhou Hang; Guo Qi; Wen Lin; Wei Ying; Ren Diyuan

2014-01-01

We investigate how γ exposure impacts the hot-carrier degradation in deep submicron NMOSFET with different technologies and device geometries for the first time. The results show that hot-carrier degradations on irradiated devices are greater than those without irradiation, especially for narrow channel device. The reason is attributed to charge traps in STI, which then induce different electric field and impact ionization rates during hot-carrier stress. (semiconductor devices)

Minisequencing mitochondrial DNA pathogenic mutations

Directory of Open Access Journals (Sweden)

Carracedo Ángel

2008-04-01

Full Text Available Abstract Background There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. Methods We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. Results We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain patients carrying haplogroup J lineages (Fisher's Exact test, P-value Conclusion We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.

Refurbishment of an Analytical Laboratory Hot Cell Facility

International Nuclear Information System (INIS)

Rosenberg, K.; Henslee, S.P.; Michelbacher, J.A.; Coleman, R.M.

1997-01-01

An Analytical Laboratory Hot Cell (ALHC) Facility at Argonne National Laboratory-West (ANL-W) was in service for nearly thirty years. In order to comply with DOE regulations governing such facilities and meet ANL-W programmatic requirements, a major refurbishment effort was undertaken. All penetrations within the facility were sealed; the ventilation system was redesigned, upgraded and replaced; the manipulators were replaced; the hot cell windows were removed, refurbished, and reinstalled; all hot cell utilities were replaced; a lead-shielded glovebox housing an Inductively Coupled Plasma - Atomic Emission Spectrometer (ICP-AES) System was interfaced with the hot cells, and a new CO2 fire suppression system and other ALHC support equipment were installed

14 CFR 25.961 - Fuel system hot weather operation.

Science.gov (United States)

2010-01-01

... AIRCRAFT AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Powerplant Fuel System § 25.961 Fuel system hot weather operation. (a) The fuel system must perform satisfactorily in hot weather operation. This... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Fuel system hot weather operation. 25.961...

Hot gas path component having near wall cooling features

Science.gov (United States)

Miranda, Carlos Miguel; Kottilingam, Srikanth Chandrudu; Lacy, Benjamin Paul

2017-11-28

A method for providing micro-channels in a hot gas path component includes forming a first micro-channel in an exterior surface of a substrate of the hot gas path component. A second micro-channel is formed in the exterior surface of the hot gas path component such that it is separated from the first micro-channel by a surface gap having a first width. The method also includes disposing a braze sheet onto the exterior surface of the hot gas path component such that the braze sheet covers at least of portion of the first and second micro-channels, and heating the braze sheet to bond it to at least a portion of the exterior surface of the hot gas path component.

Hot tearing susceptibility of binary Mg–Y alloy castings

International Nuclear Information System (INIS)

Wang, Zhi; Huang, Yuanding; Srinivasan, Amirthalingam; Liu, Zheng; Beckmann, Felix; Kainer, Karl Ulrich; Hort, Norbert

2013-01-01

Highlights: ► Quantitatively and qualitatively assessing hot tearing susceptibility for different alloys. ► Monitoring the hot tearing propagation process. ► Detecting the hot tearing initiation/onset temperature. ► Recording the stress and strain evolution during the casting solidification and the subsequent cooling. - Abstract: The influence of Y content on the hot tearing susceptibility (HTS) of binary Mg–Y alloys has been predicted using thermodynamic calculations based on Clyne and Davies model. The calculated results are compared with experimental results determined using a constrained rod casting (CRC) apparatus with a load cell and data acquisition system. Both thermodynamic calculations and experimental measurements indicate that the hot tearing susceptibility as a function of Y content follows the “λ” shape. The experimental results show that HTS first increases with increase in Y content, reaches the maximum at about 0.9 wt.%Y and then decreases with further increase the Y content. The maximum susceptibility observed in Mg–0.9 wt.%Y alloy is attributed to its coarsened columnar microstructure, large solidification range and small amount of eutectic at the time of hot tearing. The initiation of hot cracks is monitored during CRC experiments. It corresponds to a drop in load increment on the force curves. The critical solid fractions at which the hot cracks are initiated are in the range from 0.9 to 0.99. It is also found that it decreases with increasing the content of Y. The hot cracks propagate along the dendritic or grain boundaries through the interdendritic separation or tearing of interconnected dendrites. Some of the formed cracks are possible to be healed by the subsequent refilling of the remained liquids

Remarks on theoretical hot-atom chemistry

International Nuclear Information System (INIS)

Inokuti, Mitio

1993-01-01

The publication of the 'Handbook of Hot Atom Chemistry', following the earlier volume 'Recent Trend and Application', was a major milestone in physical chemistry. Theoretical treatments of hot atom chemistry must address two classes of problems. The first class concerns the individual collisions of hot atoms with other atoms or molecules. The second class concerns the description of the consequences of the many collisions of hot atoms and their chemical environment. Most of the remarks pertain to the problems of the first class. The central issue is the adiabaticity of nuclear motions versus electronic motions. To be precise, any atomic core motion should be mentioned rather than pure nuclear motion, because tightly bound core electrons are largely irrelevant to the chemistry. When nuclear motions are sufficiently slow, or for other reasons that can be regarded as adiabatic, the collision problem is basically straightforward, therefore, interatomic and intermolecular forces can be assumed, and their consequences for nuclear motions are calculable in principle. In the case of non-adiabaticity being important, much more difficult problems arise, and it is briefly discussed, and the work by Phelps is cited. (K.I.)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

Science.gov (United States)

Choi, Rihwa; Park, Hyung-Doo; Kang, Ben; Choi, So Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Choe, Yon Ho

2016-04-21

Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX. Thirteen Korean patients were tested for PHKA2 mutations using direct sequencing and a multiplex polymerase chain reaction method. A comprehensive review of the literature on previously reported PHKA2 mutations in other ethnic populations was conducted for comparison. Among 13 patients tested, six unrelated male patients with GSD IX aged 2 to 6 years at the first diagnostic work-up for hepatomegaly with elevated aspartate transaminase (AST) and alanine transaminase (ALT) were found to have PHKA2 mutations. These patients had different PHKA2 mutations: five were known mutations (c.537 + 5G > A, c.884G > A [p.Arg295His], c.3210_3212delGAG [p.Arg1072del], exon 8 deletion, and exons 27-33 deletion) and one was a novel mutation (exons 18-33 deletion). Notably, the most common type of mutation was gross deletion, in contrast to other ethnic populations in which the most common mutation type was sequence variant. This study expands our knowledge of the PHKA2 mutation spectrum of GSD IX. Considering the PHKA2 mutation spectrum in Korean patients with GSD IX, molecular diagnostic methods for deletions should be conducted in conjunction with direct sequence analysis to enable accurate molecular diagnosis of this disease in the Korean population.

Hot pressing of B{sub 4}C/SiC composites

Energy Technology Data Exchange (ETDEWEB)

Sahin, F.C.; Turhan, E.; Yesilcubuk, S.A.; Addemir, O. [Ystanbul Technical University, Faculty of Chemistry and Metallurgy, Materials and Metallurgical Engineering Dept., Maslak-Ystanbul (Turkey)

2005-07-01

B{sub 4}C/SiC ceramic composites containing 10-20-30 vol % SiC were prepared by hot pressing method. The effect of SiC addition and hot pressing temperature on sintering behaviour and mechanical properties of hot pressed composites were investigated. Microstructures of hot pressed samples were examined by SEM technique. Three different temperatures (2100 deg. C, 2200 deg. C and 2250 deg. C) were used to optimize hot pressing temperature applying 100 MPa pressure under argon atmosphere during the sintering procedure. The highest relative density of 98.44 % was obtained by hot pressing at 2250 deg. C. However, bending strengths of B{sub 4}C/SiC composite samples were lower than monolithic B{sub 4}C in all experimental conditions. (authors)

"Hot Tub Rash" and "Swimmer's Ear" (Pseudomonas)

Science.gov (United States)

Facts About “Hot Tub Rash” and “Swimmer’s Ear” (Pseudomonas) What is Pseudomonas and how can it affect me? Pseudomonas (sue-doh- ... a major cause of infections commonly known as “hot tub rash” and “swimmer’s ear.” This germ is ...

Biofilm formation in a hot water system

DEFF Research Database (Denmark)

Bagh, L.K.; Albrechtsen, Hans-Jørgen; Arvin, Erik

2002-01-01

The biofilm formation rate was measured in situ in a hot water system in an apartment building by specially designed sampling equipment, and the net growth of the suspended bacteria was measured by incubation of water samples with the indigeneous bacteria. The biofilm formation rate reached......, in the sludge, or in the water from the distribution system was negligible. This indicated that bacterial growth took place on the inner surfaces in the hot water system and biofilm formation and detachment of bacteria could account for most of the suspended bacteria actually measured in hot water. Therefore...

HNPCC: Six new pathogenic mutations

Directory of Open Access Journals (Sweden)

Epplen Joerg T

2004-06-01

Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Science.gov (United States)

Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I; Solano, Angela R; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N; Chan, T L; Couch, Fergus J; Goldgar, David E; Kruse, Torben A; Palmero, Edenir Inêz; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J; McGuffog, Lesley; Parsons, Michael T; Leslie, Goska; Aalfs, Cora M; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmaña, Judith; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M; Blazer, Kathleen R; Blok, Marinus J; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A; Campbell, Ian; Caputo, Sandrine M; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Collée, J Margriet; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Dorfling, Cecilia M; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Engert, Stefanie; Evans, D Gareth; Faivre, Laurence; Feliubadaló, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; Galvão, Henrique C R; Ganz, Patricia A; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Greene, Mark H; Gronwald, Jacek; Gutierrez-Barrera, Angelica; Hahnen, Eric; Hauke, Jan; Henderson, Alex; Hentschel, Julia; Hogervorst, Frans B L; Honisch, Ellen; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Vijai, Joseph; Kaczmarek, Katarzyna; Karlan, Beth Y; Kast, Karin; Investigators, KConFab; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; Lázaro, Conxi; Lee, Annette; Lee, Min Hyuk; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Lindor, Noralane M; Longy, Michel; Loud, Jennifer T; Lu, Karen H; Lubinski, Jan; Machackova, Eva; Manoukian, Siranoush; Mari, Véronique; Martínez-Bouzas, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Mickys, Ugnius; Miller, Austin; Montagna, Marco; Moysich, Kirsten B; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L; Nevanlinna, Heli; Ngeow, Joanne; Nguyen, Huu Phuc; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L; Offit, Kenneth; Öfverholm, Anna; Ong, Kai-Ren; Osorio, Ana; Papi, Laura; Papp, Janos; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad Usman; Rhiem, Kerstin; Robson, Mark; Rodriguez, Gustavo C; Rogers, Mark T; Rudaitis, Vilius; Schmidt, Ane Y; Schmutzler, Rita Katharina; Senter, Leigha; Shah, Payal D; Sharma, Priyanka; Side, Lucy E; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Slavin, Thomas P; Snape, Katie; Sobol, Hagay; Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; Szabo, Csilla I; Tan, Yen Y; Teixeira, Manuel R; Terry, Mary Beth; Teulé, Alex; Thomas, Abigail; Thull, Darcy L; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Hout, Annemieke H; van der Kolk, Lizet E; van der Luijt, Rob B; Van Heetvelde, Mattias; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Villarreal-Garza, Cynthia; von Wachenfeldt, Anna; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zidan, Jamal; Zorn, Kristin K; Hutten Selkirk, Christina G; Hulick, Peter J; Chenevix-Trench, Georgia; Spurdle, Amanda B; Antoniou, Antonis C; Nathanson, Katherine L

2018-05-01

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations. © 2018 Wiley Periodicals, Inc.

Instant hot noodles: do they need to burn?

Science.gov (United States)

Wu, C; Tan, A L; Maze, D A E; Holland, A J A

2013-03-01

Scalds and contact burns in children may occur as the result of spillage of hot food and drinks, including instant hot noodles. This study sought to determine the frequency of noodle burns in children and investigate the thermal properties of instant hot noodles. Data on instant hot noodle burns in children were retrieved from the New South Wales Severe Burn Injury Database between 2005 and 2010. Five widely available brands of instant hot noodles, including three cup and two packet varieties, were prepared following the manufacturer's instructions. For each preparation the initial temperature after cooking was recorded, together with the time to cool to 50°C. 291 children sustained instant hot noodle burns over the 6 year study period, representing 5.4% of all children referred to our burns unit. Over a third received inadequate first aid. Cup noodles cooked with boiling water reached the highest temperature of over 80°C and took the longest time to cool to 50°C: on average 52.3 min. Cup noodles in smaller, narrower containers achieved higher post-cooking temperatures compared to noodles in wider, bowel shaped containers. Packet noodles cooked in a Microwave oven attained lower peak temperatures and shorter cooling times compared to cup noodles. Although relatively uncommon in children, instant hot noodle burns often received inadequate first aid. When cooked according to manufacturer's instructions, noodles generally exceeded temperatures sufficient to cause a burn. Consumers and parents need to be aware of the risks of burn when preparing these foods. Crown Copyright © 2012. Published by Elsevier Ltd. All rights reserved.

The design of hot laboratories

International Nuclear Information System (INIS)

1976-01-01

The need for specialized laboratories to handle radioactive substances of high activity has increased greatly due to the expansion of the nuclear power industry and the widespread use of radioisotopes in scientific research and technology. Such laboratories, which are called hot laboratories, are specially designed and equipped to handle radioactive materials of high activity, including plutonium and transplutonium elements. The handling of plutonium and transplutonium elements presents special radiation-protection and safety problems because of their high specific activity and high radiotoxicity. Therefore, the planning, design, construction and operation of hot laboratories must meet the stringent safety, containment, ventilation, shielding, criticality control and fire-protection requirements. The IAEA has published two manuals in its Safety Series, one on the safety aspects of design and equipment of hot laboratories (SS No.30) and the other on the safe handling of plutonium (SS No.39). The purpose of the symposium in Otaniemi was to collect information on recent developments in the safety features of hot laboratories and to review the present state of knowledge. A number of new developments have taken place as the result of growing sophistication in the philosophy of radiation protection as given in the ICRP recommendations (Report No.22) and in the Agency's basic safety standards (No.9). The topics discussed were safety features of planning and design, air cleaning, transfer and transport systems, criticality control, fire protection, radiological protection, waste management, administrative arrangements and operating experience

New 40Ar/39Ar age progression for the Louisville hot spot trail and implications for inter-hot spot motion

Science.gov (United States)

Koppers, Anthony A. P.; Gowen, Molly D.; Colwell, Lauren E.; Gee, Jeffrey S.; Lonsdale, Peter F.; Mahoney, John J.; Duncan, Robert A.

2011-12-01

In this study we present 42 new 40Ar/39Ar incremental heating age determinations that contribute to an updated age progression for the Louisville seamount trail. Louisville is the South Pacific counterpart to the Hawaiian-Emperor seamount trail, both trails representing intraplate volcanism over the same time interval (˜80 Ma to present) and being examples of primary hot spot lineaments. Our data provide evidence for an age-progressive trend from 71 to 21 Ma. Assuming fixed hot spots, this makes possible a direct comparison to the Hawaiian-Emperor age progression and the most recent absolute plate motion (APM) model (WK08G) of Wessel and Kroenke (2008). We observe that for the Louisville seamount trail the measured ages are systematically older relative to both the WK08G model predictions and Hawaiian seamount ages, with offsets ranging up to 6 Myr. Taking into account the uncertainty about the duration of eruption and magmatic succession at individual Louisville volcanoes, these age offsets should be considered minimum estimates, as our sampling probably tended to recover the youngest lava flows. These large deviations point to either a contribution of inter-hot spot motion between the Louisville and Hawaiian hot spots or to a more easterly location of the Louisville hot spot than the one inferred in the WK08G model. Both scenarios are investigated in this paper, whereby the more eastern hot spot location (52.0°S, 134.5°W versus 52.4°S, 137.2°W) reduces the average age offset, but still results in a relatively large maximum offset of 3.7 Myr. When comparing the new ages to the APM models (S04P, S04G) by Steinberger et al. (2004) that attempt to compensate for the motion of hot spots in the Pacific (Hawaii) or globally (Hawaii, Louisville, Reunion and Walvis), the measured and predicted ages are more in agreement, showing only a maximum offset of 2.3 Myr with respect to the S04G model. At face value these more advanced APM models, which consider both plate and

Cardiac autonomic function and hot flashes among perimenopausal and postmenopausal women.

Science.gov (United States)

Gibson, Carolyn J; Mendes, Wendy Berry; Schembri, Michael; Grady, Deborah; Huang, Alison J

2017-07-01

Abnormalities in autonomic function are posited to play a pathophysiologic role in menopausal hot flashes. We examined relationships between resting cardiac autonomic activity and hot flashes in perimenopausal and postmenopausal women. Autonomic function was assessed at baseline and 12 weeks among perimenopausal and postmenopausal women (n = 121, mean age 53 years) in a randomized trial of slow-paced respiration for hot flashes. Pre-ejection period (PEP), a marker of sympathetic activation, was measured with impedance cardiography. Respiratory sinus arrhythmia (RSA), a marker of parasympathetic activation, was measured with electrocardiography. Participants self-reported hot flash frequency and severity in 7-day symptom diaries. Analysis of covariance models were used to relate autonomic function and hot flash frequency and severity at baseline, and to relate changes in autonomic function to changes in hot flash frequency and severity over 12 weeks, adjusting for age, body mass index, and intervention assignment. PEP was not associated with hot flash frequency or severity at baseline or over 12 weeks (P > 0.05 for all). In contrast, there was a trend toward greater frequency of moderate-to-severe hot flashes with higher RSA at baseline (β = 0.43, P = 0.06), and a positive association between change in RSA and change in frequency of moderate-to-severe hot flashes over 12 weeks (β = 0.63, P = 0.04). Among perimenopausal and postmenopausal women with hot flashes, variations in hot flash frequency and severity were not explained by variations in resting sympathetic activation. Greater parasympathetic activation was associated with more frequent moderate-to-severe hot flashes, which may reflect increased sensitivity to perceiving hot flashes.

Solar Hot Water Heater

Science.gov (United States)

1978-01-01

The solar panels pictured below, mounted on a Moscow, Idaho home, are part of a domestic hot water heating system capable of providing up to 100 percent of home or small business hot water needs. Produced by Lennox Industries Inc., Marshalltown, Iowa, the panels are commercial versions of a collector co-developed by NASA. In an effort to conserve energy, NASA has installed solar collectors at a number of its own facilities and is conducting research to develop the most efficient systems. Lewis Research Center teamed with Honeywell Inc., Minneapolis, Minnesota to develop the flat plate collector shown. Key to the collector's efficiency is black chrome coating on the plate developed for use on spacecraft solar cells, the coating prevents sun heat from "reradiating," or escaping outward. The design proved the most effective heat absorber among 23 different types of collectors evaluated in a Lewis test program. The Lennox solar domestic hot water heating system has three main components: the array of collectors, a "solar module" (blue unit pictured) and a conventional water heater. A fluid-ethylene glycol and water-is circulated through the collectors to absorb solar heat. The fluid is then piped to a double-walled jacket around a water tank within the solar module.

Radiation induced chlorophyll mutations in rice

International Nuclear Information System (INIS)

Bari, G.; Mustafa, G.; Soomro, A.M.; Baloch, A.W.

1985-01-01

Air dried grains of four local varieties of rice were treated with gamma-rays and fast neutrons for determining their mutagenic effectiveness through the occurence of chlorophyll mutations. Fast neutrons were more effective in inducing chlorophyll mutations and the rice variety Basmati 370 produced maximum number of mutations followed by varieties Sonahri Sugdasi, Jajai 77 and Sada Gulab. The highest frequency of chlorophyll mutations was that of albina types followed by striata types. The xantha, viridis and tigrina types of mutations were less frequent. (authors)

High density high-TC ceramic superconductors by hot pressing

International Nuclear Information System (INIS)

Mak, S.; Chaklader, A.C.D.

1989-01-01

High density and high T C superconductor specimens, YBa 2 Cu 3 O x , have been produced by hot-pressing. The factors studied are the effect of hot pressing on the density, the oxygen stoichiometry, the crystal structure, and the critical temperature. Hot pressing followed by heat treatment increased the density of the specimen to 93%. The hot pressing itself did not significantly affect the oxygen content in the specimen, and although the crystal structure appeared to be orthorhombic, the specimens were not superconducting above liquid nitrogen temperature. The superconductivity was restored after head treatment in oxygen. The highest critical temperature (T C ) of the hot pressed pellets was 82K, which was slightly lower than the T C that could be obtained with the cold pressed/sintered pellets. (6 refs., 5 figs., tab.)

Test methods for evaluating hot cracking: Review and perspective

International Nuclear Information System (INIS)

Goodwin, G.M.

1990-01-01

The phenomenon of hot cracking is described and discussed, and criteria for tests to assess hot cracking are elucidated. The historical development of hot cracking tests is traced from the 1930s to present, with categorization of tests into several types. It is noted that the number of tests developed continues to increase dramatically. The number of literature citations also increases with time, with few popular tests receiving a major share of interest. Predominant countries of origin of both tests and citations shift with time, and a few journals account for most of the published information. Reviews of hot cracking are reviewed, and it is predicted that modeling and other developing analytical techniques will contribute greatly to an increase in our understanding of hot cracking. 30 refs., 10 figs., 1 tab

Heat losses through pipe connections in hot water stores

DEFF Research Database (Denmark)

Andersen, Elsa; Fan, Jianhua; Furbo, Simon

2007-01-01

The heat loss from pipe connections at the top of hot water storage tanks with and without a heat trap is investigated theoretically and compared to similar experimental investigations. Computational Fluid Dynamics (CFD) is used for the theoretical analysis. The investigations show that the heat...... loss from an ideally insulated pipe connected to the top of a hot water tank is mainly due to a natural convection flow in the pipe, that the heat loss coefficient of pipes connected to the top of a hot water tank is high, and that a heat trap can reduce the heat loss coefficient significantly. Further......, calculations show that the yearly thermal performance of solar domestic hot water systems is strongly reduced if the hot water tank has a thermal bridge located at the top of the tank....

Fabrication and properties of hot pressed bismuth tungstate

International Nuclear Information System (INIS)

Streicher, W.L.

1978-01-01

Bi 2 WO 6 is a synthetic polar material that is a possible candidate for energy conversion and detection systems. Previous research on this material has been concerned with crystal growth and sintering characteristics of polycrystalline compacts. This study involves itself with the fabrication of polycrystalline compacts by hot pressing techniques. Densities approaching theoretical crystal density were achieved by hot pressing at 850 0 C for one hour with pressures exceeding 35 MPa. Before hot pressing, the sintering range was determined by high temperature dilatometry of unfired Bi 2 WO 6 ceramics. Hot pressed discs were characterized by scanning electron microscopy, differential scanning calorimetry, and x-ray diffraction. Electrical properties were determined by dc resistivity, capacitance, and conductance measurements, ac poling, dc poling, and current-voltage measurements

Experimental optimization of temperature distribution in the hot-gas duct through the installation of internals in the hot-gas plenum of a high-temperature reactor

International Nuclear Information System (INIS)

Henssen, J.; Mauersberger, R.

1990-01-01

The flow conditions in the hot-gas plenum and in the adjacent hot-gas ducts and hot-gas pipes for the high-temperature reactor project PNP-1000 (nuclear process heat project for 1000 MW thermal output) have been examined experimentally. The experiments were performed in a closed loop in which the flow model to be analyzed, representing a 60deg sector of the core bottom of the PNP-1000 with connecting hot-gas piping and diverting arrangements, was installed. The model scale was approx. 1:5.6. The temperature and flow velocity distribution in the hot-gas duct was registered by means of 14 dual hot-wire flowmeters. Through structural changes and/or the installation of internals into the hot-gas plenum of the core bottom offering little flow resistance coolant gas temperature differentials produced in the core could be reduced to such an extent that a degree of mixture amounting to over 80% was achieved at the entrance of the connected heat exchanger systems. Thereby the desired goal of an adequate degree of mixture of the hot gas involving an acceptable pressure loss was reached. (orig.)

Induced mutations in chickpea (Cicer arietinum L.) II. frequency and spectrum of chlorophyll mutations

International Nuclear Information System (INIS)

Kharkwal, M.C.

1998-01-01

A comparative study of frequency and spectrum of chlorophyll mutations induced by two physical (gamma rays, fast neutrons) and two chemical mutagens (NMU, EMS) in relation to the effects in M1 plants and induction of mutations in M2 was made in four chickpea (Cicer arietinum L.) varieties, two desi (G 130 & H 214) one Kabuli (C 104) and one green seeded (L 345). The treatments included three doses each of gamma rays (400, 500 & 600 Gy) and fast neutrons (5, 10 & 15 Gy) and two concentrations with two different durations of two chemical mutagens, NMU [0.01% (20h), & 0.02% (8h)] and EMS [0.1% (20h) & 0.2% (8h)]. The frequencies and spectrum of three different kinds of induced chlorophyll mutations in the order albina (43.5%), chlorina (27.3%) and xantha (24.2%) were recorded. Chemical mutagens were found to be efficient in inducing chlorophyll mutations in chickpea. Highest frequency of mutations was observed in green seeded var. L 345 (83% of M1 families and 19.9/1000 M2 plants). Kabuli var. C 104 was least responsive for chlorophyll mutations

Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.

Science.gov (United States)

Szpurka, Hadrian; Jankowska, Anna M; Makishima, Hideki; Bodo, Juraj; Bejanyan, Nelli; Hsi, Eric D; Sekeres, Mikkael A; Maciejewski, Jaroslaw P

2010-08-01

While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative cases constitute a diagnostic problem. 23 RARS-T cases were investigated applying immunohistochemical phospho-STAT5, sequencing and SNP-A-based karyotyping. Based on the association of TET2/ASXL1 mutations with MDS/MPN we studied molecular pattern of these genes. Two patients harbored ASXL1 and another 2 TET2 mutations. Phospho-STAT5 activation was present in one mutated TET2 and ASXL1 case. JAK2V617F/MPLW515L mutations were absent in TET2/ASXL1 mutants, indicating that similar clinical phenotype can be produced by various MPN-associated mutations and that additional unifying lesions may be present in RARS-T. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

The effects of Hot Pepper Extract and Capsaicin on Adipocyte Metabolism

Directory of Open Access Journals (Sweden)

Ching Sheng, Chu

2008-03-01

Full Text Available Objectives : The purpose of this study is to investigate the effects of hot pepper extract and capsaicin on the adipogenesis in 3T3-L1 cells, lipolysis in rat epididymal adipocytes and histological changes in porcine adipose tissue. Methods : Inhibiton of preadipocyte differentiation and/or stimulation of lipolysis play important roles in reducing obesity. 3T3-L1 preadipocytes were differentiated with adipogenic reagents by incubating for 3 days in the absence or presence of hot pepper extract or capsaicin ranging from 0.01 to 1㎎/㎖. The effects of hot pepper extract and capsaicin on adipogenesis were examined by measuring GPDH activity and by Oil Red O staining. Mature adipocytes from rat epididymal fat pad was incubated with hot pepper extract or capsaicin ranging from 0.01 to 1㎎/㎖ for 3 hrs. The effects of hot pepper extract and capsaicin on lipolysis were examined by measuring free glycerol released. Fat tissue from pig skin was injected with hot pepper extract or capsaicinCFP ranging from 0.1 to 10㎎/㎖ to examine the effects of hot pepper extract and capsaicin on histological changes under light microscopy. Results : The following results were obtained from present study on adipogenesis of preadipocytes, lipolysis of adipocytes and histological changes in fat tissue. 1. Hot pepper extract and capsaicin inhibited adipogenic differentiation at the concentration of 0.1 and 0.01㎎/㎖, respectively, indicating that capsaicin was more effective in inhibiting adipogenesis than hot pepper extract. 2. Hot pepper extract and capsaicin decreased the activity of glycerol-3-phosphate dehydrogenase(GPDH at the concentration of 0.1 and 0.01㎎/㎖, respectively, indicating that capsaicin was more effective in inhibiting adipogenic differentiation than hot pepper extract. 3. Hot pepper extract and capsaicin increased glycerol release at the concentration of 0.1㎎/㎖. There was no difference in lipolytic activity between hot pepper extract and

Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal

International Nuclear Information System (INIS)

Parris, C.N.; Kraemer, K.H.

1993-01-01

The authors compared the contribution to mutagenesis on Cockayne syndrome (CS) cells of the major class of UV photoproducts, the cyclobutane pyrimidine dimer, to that of other DNA photoproducts by using the mutagenesis shuttle vector pZ189. Lymphoblastoid cell lines from the DNA repair-deficient disorders CS and xeroderma pigmentosum (XP) and a normal line were transfected with UV-treated pZ189. Cyclobutane dimers were selectively removed before transfection by photoreactivation (PR), leaving nondimer photoproducts intact. After UV exposure and replication in CS and XP cells, plasmid survival was abnormally elevated. After PR, plasmid survival increased and mutation frequency in CS cells decreased to normal levels but remained abnormal in XP cells. Sequence analysis of >200 mutant plasmids showed that with CS cells a major mutational hot spot was caused by unrepaired cyclobutane dimers. These data indicate that with both CS and XP cyclobutane dimers are major photoproducts generating reduced plasmid survival and increased mutation frequency. However, unlike XP, CS cells are proficient in repair of nondimer photoproducts. Since XP but not CS patients have a high frequency of UV-induced skin cancers, the data suggest that prevention of UV-induced skin cancers is associated with proficient repair of nondimer photoproducts. 38 refs., 3 figs., 2 tabs

Rare beneficial mutations can halt Muller's ratchet

Science.gov (United States)

Balick, Daniel; Goyal, Sidhartha; Jerison, Elizabeth; Neher, Richard; Shraiman, Boris; Desai, Michael

2012-02-01

In viral, bacterial, and other asexual populations, the vast majority of non-neutral mutations are deleterious. This motivates the application of models without beneficial mutations. Here we show that the presence of surprisingly few compensatory mutations halts fitness decay in these models. Production of deleterious mutations is balanced by purifying selection, stabilizing the fitness distribution. However, stochastic vanishing of fitness classes can lead to slow fitness decay (i.e. Muller's ratchet). For weakly deleterious mutations, production overwhelms purification, rapidly decreasing population fitness. We show that when beneficial mutations are introduced, a stable steady state emerges in the form of a dynamic mutation-selection balance. We argue this state is generic for all mutation rates and population sizes, and is reached as an end state as genomes become saturated by either beneficial or deleterious mutations. Assuming all mutations have the same magnitude selective effect, we calculate the fraction of beneficial mutations necessary to maintain the dynamic balance. This may explain the unexpected maintenance of asexual genomes, as in mitochondria, in the presence of selection. This will affect in the statistics of genetic diversity in these populations.

Detection of EGFR mutations with mutation-specific antibodies in stage IV non-small-cell lung cancer

Directory of Open Access Journals (Sweden)

Viteri Santiago

2010-12-01

Full Text Available Abstract Background Immunohistochemistry (IHC with mutation-specific antibodies may be an ancillary method of detecting EGFR mutations in lung cancer patients. Methods EGFR mutation status was analyzed by DNA assays, and compared with IHC results in five non-small-cell lung cancer (NSCLC cell lines and tumor samples from 78 stage IV NSCLC patients. Results IHC correctly identified del 19 in the H1650 and PC9 cell lines, L858R in H1975, and wild-type EGFR in H460 and A549, as well as wild-type EGFR in tumor samples from 22 patients. IHC with the mAb against EGFR with del 19 was highly positive for the protein in all 17 patients with a 15-bp (ELREA deletion in exon 19, whereas in patients with other deletions, IHC was weakly positive in 3 cases and negative in 9 cases. IHC with the mAb against the L858R mutation showed high positivity for the protein in 25/27 (93% patients with exon 21 EGFR mutations (all with L858R but did not identify the L861Q mutation in the remaining two patients. Conclusions IHC with mutation-specific mAbs against EGFR is a promising method for detecting EGFR mutations in NSCLC patients. However these mAbs should be validated with additional studies to clarify their possible role in routine clinical practice for screening EGFR mutations in NSCLC patients.

WAVE PROPAGATION in the HOT DUCT of VHTR

Energy Technology Data Exchange (ETDEWEB)

Richard Schultz; Jim C. P. Liou

2013-07-01

In VHTR, helium from the reactor vessel is conveyed to a power conversion unit through a hot duct. In a hypothesized Depressurized Conduction Cooldown event where a rupture of the hot duct occurs, pressure waves will be initiated and reverberate in the hot duct. A numerical model is developed to quantify the transients and the helium mass flux through the rupture for such events. The flow path of the helium forms a closed loop but only the hot duct is modeled in this study. The lower plum of the reactor vessel and the steam generator are treated as specified pressure and/or temperature boundary to the hot duct. The model is based on the conservation principles of mass, momentum and energy, and on the equations of state for helium. The numerical solution is based on the method of characteristics with specified time intervals with a predictor and corrector algorithm. The rupture sub-model gives reasonable results. Transients induced by ruptures with break area equaling 20%, 10%, and 5% of the duct cross-sectional area are described.

Thermally-Driven Mantle Plumes Reconcile Hot-spot Observations

Science.gov (United States)

Davies, D.; Davies, J.

2008-12-01

Hot-spots are anomalous regions of magmatism that cannot be directly associated with plate tectonic processes (e.g. Morgan, 1972). They are widely regarded as the surface expression of upwelling mantle plumes. Hot-spots exhibit variable life-spans, magmatic productivity and fixity (e.g. Ito and van Keken, 2007). This suggests that a wide-range of upwelling structures coexist within Earth's mantle, a view supported by geochemical and seismic evidence, but, thus far, not reproduced by numerical models. Here, results from a new, global, 3-D spherical, mantle convection model are presented, which better reconcile hot-spot observations, the key modification from previous models being increased convective vigor. Model upwellings show broad-ranging dynamics; some drift slowly, while others are more mobile, displaying variable life-spans, intensities and migration velocities. Such behavior is consistent with hot-spot observations, indicating that the mantle must be simulated at the correct vigor and in the appropriate geometry to reproduce Earth-like dynamics. Thermally-driven mantle plumes can explain the principal features of hot-spot volcanism on Earth.

Tribological Behavior of Laser Textured Hot Stamping Dies

Directory of Open Access Journals (Sweden)

Andre Shihomatsu

2016-01-01

Full Text Available Hot stamping of high strength steels has been continuously developed in the automotive industry to improve mechanical properties and surface quality of stamped components. One of the main challenges faced by researchers and technicians is to improve stamping dies lifetime by reducing the wear caused by high pressures and temperatures present during the process. This paper analyzes the laser texturing of hot stamping dies and discusses how different surfaces textures influence the lubrication and wear mechanisms. To this purpose, experimental tests and numerical simulation were carried out to define the die region to be texturized and to characterize the textured surface topography before and after hot stamping tests with a 3D surface profilometer and scanning electron microscopy. Results showed that laser texturing influences the lubrication at the interface die-hot sheet and improves die lifetime. In this work, the best texture presented dimples with the highest diameter, depth, and spacing, with the surface topography and dimples morphology practically preserved after the hot stamping tests.

Domestic hot water storage: Balancing thermal and sanitary performance

International Nuclear Information System (INIS)

Armstrong, P.; Ager, D.; Thompson, I.; McCulloch, M.

2014-01-01

Thermal stratification within hot water tanks maximises the availability of stored energy and facilitates optimal use of both conventional and renewable energy sources. However, stratified tanks are also associated with the proliferation of pathogenic bacteria, such as Legionella, due to the hospitable temperatures that arise during operation. Sanitary measures, aimed at homogenising the temperature distribution throughout the tank, have been proposed; such measures reduce the effective energy storage capability that is otherwise available. Here we quantify the conflict that arises between thermodynamic performance and bacterial sterilisation within 10 real world systems. Whilst perfect stratification enhances the recovery of hot water and reduces heat losses, water samples revealed significant bacterial growth attributable to stratification (P<0.01). Temperature measurements indicated that users were exposed to potentially unsanitary water as a result. De-stratifying a system to sterilise bacteria led to a 19% reduction in effective hot water storage capability. Increasing the tank size to compensate for this loss would lead to an 11% increase in energy consumed through standing heat losses. Policymakers, seeking to utilise hot water tanks as demand response assets, should consider monitoring and control systems that prevent exposures to unsanitary hot water. - Highlights: • Domestic hot water tanks are a potential demand side asset for power networks. • A preference for bacterial growth in stratified hot water tanks has been observed. • Temperatures in base of electric hot water tanks hospitable to Legionella. • Potential exposures to unsanitary water observed. • De-stratifying a tank to sterilise leads to reduced energy storage capability

Preliminary geothermal investigations at Manley Hot Springs, Alaska

Energy Technology Data Exchange (ETDEWEB)

East, J.

1982-04-01

Manley Hot Springs is one of several hot springs which form a belt extending from the Seward Peninsula to east-central Alaska. All of the hot springs are low-temperature, water-dominated geothermal systems, having formed as the result of circulation of meteoric water along deepseated fractures near or within granitic intrusives. Shallow, thermally disturbed ground at Manley Hot Springs constitutes an area of 1.2 km by 0.6 km along the lower slopes of Bean Ridge on the north side of the Tanana Valley. This area includes 32 springs and seeps and one warm (29.1/sup 0/C) well. The hottest springs range in temperature from 61/sup 0/ to 47/sup 0/C and are presently utilized for space heating and irrigation. This study was designed to characterize the geothermal system present at Manley Hot Springs and delineate likely sites for geothermal drilling. Several surveys were conducted over a grid system which included shallow ground temperature, helium soil gas, mercury soil and resistivity surveys. In addition, a reconnaissance ground temperature survey and water chemistry sampling program was undertaken. The preliminary results, including some preliminary water chemistry, show that shallow hydrothermal activity can be delineated by many of the surveys. Three localities are targeted as likely geothermal well sites, and a model is proposed for the geothermal system at Manley Hot Springs.

Modelling and simulations in hot deformation of steels

International Nuclear Information System (INIS)

Cabrera, J.M.

2002-01-01

Traditionally, hot forming has been employed to provide shape to metals. Nowadays, however, hot working not only produces the desired geometry, but also the mechanical characteristics required. An understanding of the thermomechanical behaviour of metals, and particularly steels, is essential in the simulation and control of the hot forming operations. Moreover, a right prediction of the final properties needs from accurate descriptions of the microstructural features occurring during the shaping step. For this purpose, the determination of constitutive equations describing the stress σ - strain ε relationships at a given strain rate ε, temperature T and initial microstructure, is a useful task. In this sense, computer simulations of hot working processes proportionate a benchmark to engineers and researchers and allow decreasing the cost of developing products and processes. With regard to the prediction of the final microstructure, the simulation of the hot plastic deformation usually gives unsatisfactory results. This is due to the inadequate constitutive equations employed by the conventional and commercial software available to describe the hot flow behaviour. There are scarce models which couple the typical hot working variables (temperature, strain and strain rate) with microstructural characteristics such as grain size. In this review work is presented how the latter limitation can be overcome by using physical-based constitutive equations, some of which have been partially developed by the present authors, where account of the interaction between microstructure and processing variables is taken. Moreover, a practical derivation of the latter expressions on an AISI-304 steel is presented. To conclude, some examples of industrial applications of the latter approach are also presented. Copyright (2002) AD-TECH - International Foundation for the Advancement of Technology Ltd

History of hot flashes and aortic calcification among postmenopausal women.

Science.gov (United States)

Thurston, Rebecca C; Kuller, Lewis H; Edmundowicz, Daniel; Matthews, Karen A

2010-03-01

Menopausal hot flashes are considered largely a quality-of-life issue. However, emerging research also links hot flashes to cardiovascular risk. In some investigations, this risk is particularly apparent among women using hormone therapy. The aim of this study was to determine whether a longer history of reported hot flashes over the study period was associated with greater aortic and coronary artery calcification. Interactions with hormone therapy use were examined in an exploratory fashion. Participants included 302 women participating in the Healthy Women Study, a longitudinal study of cardiovascular risk during perimenopause and postmenopause, which was initiated in 1983. Hot flashes (any/none) were assessed when women were 1, 2, 5, and 8 years postmenopausal. Electron beam tomography measures of coronary artery calcification and aortic calcification were completed in 1997-2004. Associations between the number of visits with report of hot flashes, divided by the number of visits attended, and aortic or coronary artery calcification (transformed) were examined in linear regression models. Interactions by hormone therapy use were evaluated. Among women using hormone therapy, a longer history of reported hot flashes was associated with increased aortic calcification, controlling for traditional cardiovascular risk factors (b = 2.87, SE = 1.21, P history of hot flashes and coronary artery calcification. Among postmenopausal women using hormone therapy, a longer history of reported hot flashes measured prospectively was associated with increased aortic calcification, controlling for traditional cardiovascular risk factors. Hot flashes may signal adverse cardiovascular changes among certain postmenopausal women.

Hot-rolling metals in vacuum. Information circular

International Nuclear Information System (INIS)

Beall, R.A.; Worthington, R.B.; Blickensderfer, R.

1979-01-01

The process of hot-rolling metals, alloys, and composites in vacuum is studied. First, a comprehensive review of the literature is presented, including the advantages and disadvantages of using vacuum. Next, details of hot-rolling titanium, chromium, and molybdenum-iron bimetal are given. Finally, the design of new equipment is described

Models of hot stellar systems

International Nuclear Information System (INIS)

Van Albada, T.S.

1986-01-01

Elliptical galaxies consist almost entirely of stars. Sites of recent star formation are rare, and most stars are believed to be several billion years old, perhaps as old as the Universe itself (--10/sup 10/ yrs). Stellar motions in ellipticals show a modest amount of circulation about the center of the system, but most support against the force of gravity is provided by random motions; for this reason ellipticals are called 'hot' stellar systems. Spiral galaxies usually also contain an appreciable amount of gas (--10%, mainly atomic hydrogen) and new stars are continually being formed out of this gas, especially in the spiral arms. In contrast to ellipticals, support against gravity in spiral galaxies comes almost entirely from rotation; random motions of the stars with respect to rotation are small. Consequently, spiral galaxies are called 'cold' stellar systems. Other than in hot systems, in cold systems the collective response of stars to variations in the force field is an essential part of the dynamics. The present overview is limited to mathematical models of hot systems. Computational methods are also discussed

Siliceous Shrubs in Yellowstone's Hot Springs: Implications for Exobiological Investigations

Science.gov (United States)

Guidry, S. A.; Chafetz, H. S.

2003-01-01

Potential relict hot springs have been identified on Mars and, using the Earth as an analog, Martian hot springs are postulated to be an optimal locality for recognizing preserved evidence of extraterrestrial life. Distinctive organic and inorganic biomarkers are necessary to recognize preserved evidence of life in terrestrial and extraterrestrial hot spring accumulations. Hot springs in Yellowstone National Park, Wyoming, U.S.A., contain a wealth of information about primitive microbial life and associated biosignatures that may be useful for future exobiological investigations. Numerous siliceous hot springs in Yellowstone contain abundant, centimeter-scale, spinose precipitates of opaline silica (opal-A). Although areally extensive in siliceous hot spring discharge channel facies, these spinose forms have largely escaped attention. These precipitates referred to as shrubs, consist of porous aggregates of spinose opaline silica that superficially resemble miniature woody plants, i.e., the term shrubs. Shrubs in carbonate precipitating systems have received considerable attention, and represent naturally occurring biotically induced precipitates. As such, shrubs have great potential as hot spring environmental indicators and, more importantly, proxies for pre-existing microbial life.

Hot ductility behavior of near-alpha titanium alloy IMI834

International Nuclear Information System (INIS)

Ghavam, Mohammad Hadi; Morakabati, Maryam; Abbasi, Seyed Mahdi; Badri, Hassan

2014-01-01

The hot ductility of rolled IMI834 titanium alloy (Ti-5.3Al-2.9Sn-3.0Zr-0.65Nb-0.5Mo-0.2Si in wt%) has been studied by conducting tensile tests with a strain rate of 0.1 s -1 and temperature range of 750-1100 C to obtain the optimum hot working conditions. The alloy showed minimum hot ductility in the lower alpha-beta region in the temperature range 750-950 C. Further microstructural characterizations showed improvement in hot ductility by increasing temperature, which was attributed to reduction of volume fraction of high strength alpha phase. The best hot ductility was observed at 1000 C, i.e. in the upper alpha-beta region. The better hot ductility at higher temperature could be related to the increase in the volume fraction of beta phase and the occurrence of dynamic restoration phenomena. The second decline in hot ductility appeared at higher temperatures in the beta region and was attributed to the high stacking fault energy and self-diffusion of beta phase leading to limitation of dynamic recrystallization.

THE PHOTOECCENTRIC EFFECT AND PROTO-HOT JUPITERS. III. A PAUCITY OF PROTO-HOT JUPITERS ON SUPER-ECCENTRIC ORBITS

International Nuclear Information System (INIS)

Dawson, Rebekah I.; Murray-Clay, Ruth A.; Johnson, John Asher

2015-01-01

Gas giant planets orbiting within 0.1 AU of their host stars are unlikely to have formed in situ and are evidence for planetary migration. It is debated whether the typical hot Jupiter smoothly migrated inward from its formation location through the proto-planetary disk, or was perturbed by another body onto a highly eccentric orbit, which tidal dissipation subsequently shrank and circularized during close stellar passages. Socrates and collaborators predicted that the latter model should produce a population of super-eccentric proto-hot Jupiters readily observable by Kepler. We find a paucity of such planets in the Kepler sample, which is inconsistent with the theoretical prediction with 96.9% confidence. Observational effects are unlikely to explain this discrepancy. We find that the fraction of hot Jupiters with an orbital period P > 3 days produced by the star-planet Kozai mechanism does not exceed (at two-sigma) 44%. Our results may indicate that disk migration is the dominant channel for producing hot Jupiters with P > 3 days. Alternatively, the typical hot Jupiter may have been perturbed to a high eccentricity by interactions with a planetary rather than stellar companion, and began tidal circularization much interior to 1 AU after multiple scatterings. A final alternative is that early in the tidal circularization process at high eccentricities tidal circularization occurs much more rapidly than later in the process at low eccentricities, although this is contrary to current tidal theories

Hot Surface Ignition of A Composite Fuel Droplet

Directory of Open Access Journals (Sweden)

Glushkov Dmitrii O.

2015-01-01

Full Text Available The present study examines the characteristics of conductive heating (up to ignition temperature of a composite fuel droplet based on coal, liquid petroleum products, and water. In this paper, we have established the difference between heat transfer from a heat source to a fuel droplet in case of conductive (hot surface and convective (hot gas heat supply. The Leidenfrost effect influences on heat transfer characteristics significantly due to the gas gap between a composite fuel droplet and a hot surface.

What are Chinese talking about in hot weibos?

Science.gov (United States)

Li, Yuan; Gao, Haoyu; Yang, Mingmin; Guan, Wanqiu; Ma, Haixin; Qian, Weining; Cao, Zhigang; Yang, Xiaoguang

2015-02-01

SinaWeibo is a Twitter-like social network service emerging in China recently. We analyzed the hot weibos (tweets), which exceed threshold of being reposted for 1000 times, from a data set of 650 million weibos during August 2009 and January 2012. We classified the hot weibos into eight categories, namely Entertainment & Fashion, Hot Social Events, Leisure & Mood, Life & Health, Seeking for Help, Sales Promotion, Fengshui & Fortune and Deleted weibos. There are several findings. Firstly, Leisure & Mood and Hot Social Events account for almost 65% of all the hot weibos. This may indicate a potential dual-structure of the current society of China: On the one hand, economy of the country as a whole is gaining sustaining growth, which enables people to enjoy a better life and spare more time on leisure and mood topics. On the other hand, there still exist considerable amount of serious social problems, such as government corruption and environmental pollution, which draw people's concern and worries all the time. Secondly, users' posting and reposting behaviors are associated with user profiles, namely: (1) Gender. Male users generate two thirds of hot weibos. (2) Verification status. Verified users contribute 46.5% of hot weibos, who comprise only 0.1% in SinaWeibo user population. Interestingly, 39.2% of the verified-user-generated weibos are written by SPA users (who generate weibos of a particular style, or in a consistent way, e.g. to say words of wisdom, 'chicken-soup-soul' like sentences, and jokes etc.). This complements the previous finding of Yu et al. (2012), implying that SinaWeibo is in an 'artificial inflation' not only on the reposting side but also on the posting side. Unfortunately, only 14.4% of the hot weibos are created by grassroots (not verified users). (3) Geographical location. Users from different areas of China show distinct posting and reposting behaviors, which partially reflect their indigenous cultures. Finally, homophily is also examined

TWRS tank waste pretreatment process development hot test siting report

International Nuclear Information System (INIS)

Howden, G.F.; Banning, D.L.; Dodd, D.A.; Smith, D.A.; Stevens, P.F.; Hansen, R.I.; Reynolds, B.A.

1995-02-01

This report is the sixth in a series that have assessed the hot testing requirements for TWRS pretreatment process development and identified the hot testing support requirements. This report, based on the previous work, identifies specific hot test work packages, matches those packages to specific hot cell facilities, and provides recommendations of specific facilities to be employed for the pretreatment hot test work. Also identified are serious limitations in the tank waste sample retrieval and handling infrastructure. Recommendations are provided for staged development of 500 mL, 3 L, 25 L and 4000 L sample recovery systems and specific actions to provide those capabilities

Epilepsy caused by CDKL5 mutations.

Science.gov (United States)

Castrén, Maija; Gaily, Eija; Tengström, Carola; Lähdetie, Jaana; Archer, Hayley; Ala-Mello, Sirpa

2011-01-01

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene. © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Mutation induction by heavy ions

Science.gov (United States)

Kiefer, J.; Stoll, U.; Schneider, E.

1994-10-01

Mutation induction by heavy ions is compared in yeast and mammalian cells. Since mutants can only be recovered in survivors the influence of inactivation cross sections has to be taken into account. It is shown that both the size of the sensitive cellular site as well as track structure play an important role. Another parameter which influences the probability of mutation induction is repair: Contrary to naive assumptions primary radiation damage does not directly lead to mutations but requires modification to reconstitute the genetic machinery so that mutants can survive. The molecular structure of mutations was analyzed after exposure to deuterons by amplification with the aid of polymerase chain reaction. The results-although preliminary-demonstrate that even with densely ionizing particles a large fraction does not carry big deletions which suggests that point mutations may also be induced by heavy ions.

Volatility of Mutator Phenotypes at Single Cell Resolution.

Directory of Open Access Journals (Sweden)

Scott R Kennedy

2015-04-01

Full Text Available Mutator phenotypes accelerate the evolutionary process of neoplastic transformation. Historically, the measurement of mutation rates has relied on scoring the occurrence of rare mutations in target genes in large populations of cells. Averaging mutation rates over large cell populations assumes that new mutations arise at a constant rate during each cell division. If the mutation rate is not constant, an expanding mutator population may contain subclones with widely divergent rates of evolution. Here, we report mutation rate measurements of individual cell divisions of mutator yeast deficient in DNA polymerase ε proofreading and base-base mismatch repair. Our data are best fit by a model in which cells can assume one of two distinct mutator states, with mutation rates that differ by an order of magnitude. In error-prone cell divisions, mutations occurred on the same chromosome more frequently than expected by chance, often in DNA with similar predicted replication timing, consistent with a spatiotemporal dimension to the hypermutator state. Mapping of mutations onto predicted replicons revealed that mutations were enriched in the first half of the replicon as well as near termination zones. Taken together, our findings show that individual genome replication events exhibit an unexpected volatility that may deepen our understanding of the evolution of mutator-driven malignancies.

Mutation breeding in malting barley

Energy Technology Data Exchange (ETDEWEB)

Hiraki, Makoto; Sanada, Matsuyoshi

1984-03-01

The released varieties of malting barley through mutation breeding is more than ten in number, including foreign varieties. In Japan four varieties has been released so far. We started mutation breeding in 1956 together with cross breeding that we employed before. Until now, Gamma 4, Amagi Nijo 1 and Fuji Nijo 2 have been produced from the direct use of induced mutations and Nirasaki Nijo 8 from the indirect use of them. Mutation breeding has been used mainly in the partial improvement of agronomic characteristics since the selection for malting quality was very complicated. As the variety bred by induced mutation is usually equivalent to the original variety in malting quality, both this new variety and the original one could be cultivated in the same area without any problem on later malt production. Particularly when one farmer cultivates barley in an extensive acreage, he can harvest at the best time according to the different maturing time of each variety. From these points of view, mutation breeding is an efficient tool in malting barley breeding. Mutagens we have used so far are X-rays, ..gamma..-rays, neutron and chemicals such as dES. From our experience in selection, the low dose of radiation and chemical mutagens are more effective in selection of point mutation than the high dose of radiation which tends to produce many abnormal but few practical mutants. (author).

Children in Hot Cars Result in Fatal Consequences

Science.gov (United States)

... Health Tips » Holiday and Seasonal Children in Hot Cars Result in Fatal Consequences Emergency physicians are warning ... it bluntly, leaving your child in a hot car is like leaving your child in a lit ...

Hot Blade Cuttings for the Building Industries

DEFF Research Database (Denmark)

Brander, David; Bærentzen, Jakob Andreas; Evgrafov, Anton

2016-01-01

. The project aims to reduce the amount of manual labour as well as production time by applying robots to cut expanded polystyrene (EPS) moulds for the concrete to form doubly curved surfaces. The scheme is based upon the so-called Hot Wire or Hot Blade technology where the surfaces are essentially swept out...

Basics of Solar Heating & Hot Water Systems.

Science.gov (United States)

American Inst. of Architects, Washington, DC.

In presenting the basics of solar heating and hot water systems, this publication is organized from the general to the specific. It begins by presenting functional and operational descriptions of solar heating and domestic hot water systems, outlining the basic concepts and terminology. This is followed by a description of solar energy utilization…

Mutational analyses of molecularly cloned satellite tobacco mosaic virus during serial passage in plants: Evidence for hotspots of genetic change

Science.gov (United States)

Kurath, G.; Dodds, J.A.

1995-01-01

The high level of genetic diversity and rapid evolution of viral RNA genomes are well documented, but few studies have characterized the rate and nature of ongoing genetic change over time under controlled experimental conditions, especially in plant hosts. The RNA genome of satellite tobacco mosaic virus (STMV) was used as an effective model for such studies because of advantageous features of its genome structure and because the extant genetic heterogeneity of STMV has been characterized previously. In the present study, the process of genetic change over time was studied by monitoring multiple serial passage lines of STMV populations for changes in their consensus sequences. A total of 42 passage lines were initiated by inoculation of tobacco plants with a helper tobamovirus and one of four STMV RNA inocula that were transcribed from full-length infectious STMV clones or extracted from purified STMV type strain virions. Ten serial passages were carried out for each line and the consensus genotypes of progeny STMV populations were assessed for genetic change by RNase protection analyses of the entire 1,059-nt STMV genome. Three different types of genetic change were observed, including the fixation of novel mutations in 9 of 42 lines, mutation at the major heterogeneity site near nt 751 in 5 of the 19 lines inoculated with a single genotype, and selection of a single major genotype in 6 of the 23 lines inoculated with mixed genotypes. Sequence analyses showed that the majority of mutations were single base substitutions. The distribution of mutation sites included three clusters in which mutations occurred at or very near the same site, suggesting hot spots of genetic change in the STMV genome. The diversity of genetic changes in sibling lines is clear evidence for the important role of chance and random sampling events in the process of genetic diversification of STMV virus populations.

Getting into hot water Problematizing hot water service demand: The case of Old Cairo

Science.gov (United States)

Culhane, Thomas Henry

This dissertation analyzes hot water demand and service infrastructure in two neighboring but culturally distinct communities of the urban poor in the inner-city area of central Cairo. The communities are the Historic Islamic Cairo neighborhood of Darb Al Ahmar at the foot of Al-Azhar park, and the Zurayib neighborhood of Manshiyat Nasser where the Coptic Zabaleen Recyclers live. The study focuses on the demand side of the hot water issue and involves consideration of built-environment infrastructures providing piped water, electricity, bottled gas, sewage, and the support structures (wiring and plumbing) for consumer durables (appliances such as hot water heaters, stoves, refrigerators, air conditioners) as well as water pumps and water storage tanks. The study asks the questions "How do poor communities in Cairo value hot water" and "How do cost, infrastructure and cultural preferences affect which attributes of hot water service are most highly preferred?". To answer these questions household surveys based primarily on the World Bank LSMS modules were administered by professional survey teams from Darb Al Ahmar's Aga Khan Trust for Culture and the Zabaleen's local NGO "Spirit of Youth" in their adjacent conununities in and surrounding historic Cairo. In total 463 valid surveys were collected, (231 from Darb Al Ahmar, 232 from the Zabaleen). The surveys included a contingent valuation question to explore Willingness to Pay for improved hot water service; the surveys queried household assets as proxies for income. The dissertation's findings reveal that one quarter of the residents of Darb Al Ahmar and two-thirds of the residents of Manshiyet Nasser's Zabaleen lack conventional water heating service. Instead they employ various types of stoves and self-built contraptions to heat water, usually incurring considerable risk and opportunity costs. However the thesis explores the notion that this is rational "satisficing" behavior; despite the shortcomings of such self

Studies on mutation techniques in rice breeding

International Nuclear Information System (INIS)

Wang Cailian; Chen Qiufang; Jin Wei

2001-01-01

Synthetical techniques for improving rice mutation breeding efficiency were studied. The techniques consist of corresponding relationship between radiosensitivity and mutation frequency, choosing appropriate materials, combination of physical and chemical mutagens, mutagenic effects of the new mutagenic agents as proton, ions, synchronous irradiation and space mutation. These techniques and methods for inducing mutations are very valuable to increase inducing mutation efficiency and breeding level

Exercise in Experimental Plastics Technology: Hot Embossing of Polymers with surface microstructure

DEFF Research Database (Denmark)

Eriksson, Torbjörn Gerhard; Rasmussen, Henrik Koblitz

2004-01-01

Hot Embossing of polymers with surface microstructure Polymer materials have proven to be good materials for manufacturing nano/ and microstructure. There are three major processing techniques: hot embossing, injection moulding and casting. Hot embossing provides several advantages such as relati......Hot Embossing of polymers with surface microstructure Polymer materials have proven to be good materials for manufacturing nano/ and microstructure. There are three major processing techniques: hot embossing, injection moulding and casting. Hot embossing provides several advantages...... such as relatively low cost for embossing tools, simple operation and high replication accuracy for small features. Two different plastic materials will be used to replicate surface microstructures by hot embossing. The hot embossing will be done in a hydraulic press where it is easy to control temperature...

Mutation, Witten index, and quiver invariant

Energy Technology Data Exchange (ETDEWEB)

Kim, Heeyeon [Perimeter Institute for Theoretical Physics,31 Caroline Street North, Waterloo, N2L 2Y5, Ontario (Canada); Lee, Seung-Joo [Department of Physics, Robeson Hall, Virginia Tech,Blacksburg, VA 24061 (United States); Yi, Piljin [School of Physics, Korea Institute for Advanced Study,Seoul 130-722 (Korea, Republic of)

2015-07-20

We explore Seiberg-like dualities, or mutations, for N=4 quiver quantum mechanics in the context of wall-crossing. In contrast to higher dimensions, the 1d Seiberg-duality must be performed with much care. With fixed Fayet-Iliopoulos constants, at most two nodes can be mutated, one left and the other right, mapping a chamber of a quiver into a chamber of a mutated quiver. We delineate this complex pattern for triangle quivers and show how the Witten indices are preserved under such finely chosen mutations. On the other hand, the quiver invariants, or wall-crossing-safe part of supersymmetric spectra, mutate more straightforwardly, whereby a quiver is mapped to a quiver. The mutation rule that preserves the quiver invariant is different from the usual one, however, which we explore and confirm numerically.

Mutation, Witten index, and quiver invariant

International Nuclear Information System (INIS)

Kim, Heeyeon; Lee, Seung-Joo; Yi, Piljin

2015-01-01

We explore Seiberg-like dualities, or mutations, for N=4 quiver quantum mechanics in the context of wall-crossing. In contrast to higher dimensions, the 1d Seiberg-duality must be performed with much care. With fixed Fayet-Iliopoulos constants, at most two nodes can be mutated, one left and the other right, mapping a chamber of a quiver into a chamber of a mutated quiver. We delineate this complex pattern for triangle quivers and show how the Witten indices are preserved under such finely chosen mutations. On the other hand, the quiver invariants, or wall-crossing-safe part of supersymmetric spectra, mutate more straightforwardly, whereby a quiver is mapped to a quiver. The mutation rule that preserves the quiver invariant is different from the usual one, however, which we explore and confirm numerically.

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Directory of Open Access Journals (Sweden)

Swati Tomar

Full Text Available Retinoblastoma (RB is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59 while only 42.4% (25/59 of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9% of tumors screened. There were 3 cases (5.1% in which no mutations could be detected and germline mutations were detected in 19.5% (8/41 of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59 of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Directory of Open Access Journals (Sweden)

Bruno Francou

Full Text Available CONTEXT: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH (OMIM #146110. In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. OBJECTIVE: To evaluate the prevalence of TAC3/TACR3 mutations, characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH caused by deleterious TAC3/TACR3 biallelic mutations. RESULTS: From a cohort of 352 CHH, we selected 173 nCHH patients and identified nine patients carrying TAC3 or TACR3 variants (5.2%. We describe here 7 of these TACR3 variants (1 frameshift and 2 nonsense deleterious mutations and 4 missense variants found in 5 subjects. Modeling and functional studies of the latter demonstrated the deleterious consequence of one missense mutation (Tyr267Asn probably caused by the misfolding of the mutated NK3R protein. We found a statistically significant (p<0.0001 higher mean FSH/LH ratio in 11 nCHH patients with TAC3/TACR3 biallelic mutations than in 47 nCHH patients with either biallelic mutations in KISS1R, GNRHR, or with no identified mutations and than in 50 Kallmann patients with mutations in KAL1, FGFR1 or PROK2/PROKR2. Three patients with TAC3/TACR3 biallelic mutations had an apulsatile LH profile but low-frequency alpha-subunit pulses. Pulsatile GnRH administration increased alpha-subunit pulsatile frequency and reduced the FSH/LH ratio. CONCLUSION: The gonadotropin axis dysfunction associated with nCHH due to TAC3/TACR3 mutations is related to a low GnRH pulsatile frequency leading to a low frequency of alpha-subunit pulses and to an elevated FSH/LH ratio. This ratio might be useful for pre-screening nCHH patients for TAC3/TACR3 mutations.

Evidence for dual control mechanism regulating hepatic glucose output in nondiabetic men

International Nuclear Information System (INIS)

Clore, J.N.; Glickman, P.S.; Helm, S.T.; Nestler, J.E.; Blackard, W.G.

1991-01-01

The authors previously reported a fall in hepatic glucose output (HGO) during sleep accompanied by reductions in glucose utilization (Rd) and free fatty acids (FFAs). This study was undertaken to determine the potential role of changes in Rd and FFA on HGO in nondiabetic men. To determine if the fall in HGO during sleep could be reversed by FFA elevation, seven nondiabetic men underwent [3-3H]glucose infusions from 2200 to 0800, with heparin (90 mU.kg-1.min-1) added at 0200. Glucose appearance (Ra) fell from 11.7 ± 1.1 at 2430 to 8.9 ± 0.8 mumol.kg-1.min-1 (P less than 0.05) at 0200. The fall in Ra was associated with decreases in FFA (0.57 ± 0.10 to 0.48 ± 0.07 mM) and glycerol (0.08 ± 0.01 to 0.06 ± 0.01 mM). Infusion of heparin significantly increased FFA and glycerol (1.09 ± 0.21 and 0.11 ± 0.01 mM, respectively, P less than 0.01) and resulted in a significant fall in plasma alanine, suggesting that gluconeogenesis had been increased. However, rates of glucose turnover were indistinguishable from overnight studies without heparin. In additional studies (n = 6), intralipid and heparin-induced FFA elevation (from 0.61 ± 0.07 to 0.95 ± 0.05 mM, P less than 0.01) stimulated gluconeogenesis ([U-14C]alanine to glucose) twofold (188 ± 22% increase compared to 114 ± 6% in saline control studies, P less than 0.01). However, despite increasing gluconeogenesis, overall HGO did not change (10.6 ± 0.5 vs. 10.7 ± 0.6 mumol.kg-1.min-1) during lipid infusion

China's 'Hot Money' Problems

National Research Council Canada - National Science Library

Martin, Michael F; Morrison, Wayne M

2008-01-01

.... The recent large inflow of financial capital into China, commonly referred to as "hot money," has led some economists to warn that such flows may have a destabilizing effect on China's economy...

Monopole transitions in hot nuclei

Energy Technology Data Exchange (ETDEWEB)

Sujkowski, Z. [Soltan Inst. for Nuclear Studies, Otwock-Swierk (Poland)

1994-12-31

Monopole transitions can be a signature of shape changing in a hot, pulsating nucleus (the low energy E0 mode) and/or a measure of the compressibility of finite nuclei (GMR, the breathing mode). Experimental information pertaining to GMR is reviewed. Recipes for deducing the incompressibility modules for infinite nuclear matter from data on GMR are discussed. Astrophysical implications are outlined. The first attempts at locating the GMR strength in moderately hot nuclei are described. Prospects for improving the experimental techniques to make an observation of this strength in selected nuclei unambiguous are discussed. (author). 46 refs, 8 figs.

Monopole transitions in hot nuclei

International Nuclear Information System (INIS)

Sujkowski, Z.

1994-01-01

Monopole transitions can be a signature of shape changing in a hot, pulsating nucleus (the low energy E0 mode) and/or a measure of the compressibility of finite nuclei (GMR, the breathing mode). Experimental information pertaining to GMR is reviewed. Recipes for deducing the incompressibility modules for infinite nuclear matter from data on GMR are discussed. Astrophysical implications are outlined. The first attempts at locating the GMR strength in moderately hot nuclei are described. Prospects for improving the experimental techniques to make an observation of this strength in selected nuclei unambiguous are discussed. (author). 46 refs, 8 figs

Hot atom chemistry of sulphur

International Nuclear Information System (INIS)

Todorovski, D. S.; Koleva, D. P.

1982-01-01

An attempt to cover all papers dealing with the hot atom chemistry of sulpphur is made. Publications which: a) only touch the problem, b) contain some data, indirectly connected with sulphur hot atom chemistry, c) deal with 35 S-production from a chloride matrix, are included as well. The author's name and literature source are given in the original language, transcribed, when it is necessary, in latine. A number of primery and secondary documents have been used including Chemical Abstracts, INIS Atomindex, the bibliographies of A. Siuda and J.-P. Adloff for 1973 - 77, etc. (authors)

Construction of concrete hot cells

International Nuclear Information System (INIS)

1981-12-01

The standard is to be applied to rooms (hot cells) which are enclosed by a concrete shield and in which radioactive material is handled by remote control. The rooms may be in facilities for experimental purposes (e.g. development of fuel elements and materials or of chemical processes) or in facilities for production purposes (e.g. reprocessing of nuclear fuel or treatment of radioactive wastes). The standard is to give a design hasis for concrete hot cells and their installations which is to be applied by designers, constructors, future users and competent authorities as well as independent experts. (orig.) [de

Construction of concrete hot cells

International Nuclear Information System (INIS)

1980-09-01

The standard is to be applied to rooms (hot cells) which are enclosed by a concrete shield and in which radioactive material is handled by remote control. The rooms may be in facilities for experimental purposes (e.g. development of fuel elements and materials or of chemical processes) or in facilities for production purposes (e.g. reprocessing of nuclear fuel or treatment of radioactive wastes). The standard is to give a design basis for concrete hot cells and their installations which is to be applied by designers, constructors, future users and competent authorities as well as independent experts. (orig.) [de

The development of synthetic test procedure for hot cell equipment systems in IMEF

International Nuclear Information System (INIS)

Ahn, Sang Bok; Lee, Key Soon; Park, Dae Kyu; Hong, Kwon Pyo; Choo, Yong Sun

1998-04-01

Hot cell facility should be confirmed to operation safety through pre-commissioning test after construction. In this report, the detailed procedure of hot cell equipment are described. The contents are as follows: 1. Entrance equipment of hot cell 2. Specimen transportation equipment between hot cells 3. Waste discharge equipment in hot cell 4. Specimen loading equipment to hot cell 5. Interlinking equipment in hot cell. (author). 4 tabs

Meteorology of Jupiter's Equatorial Hot Spots and Plumes from Cassini

Science.gov (United States)

Choi, David Sanghun; Showman, Adam P.; Vasavada, Ashwin R.; Simon-Miller, Amy A.

2013-01-01

We present an updated analysis of Jupiter's equatorial meteorology from Cassini observations. For two months preceding the spacecraft's closest approach, the Imaging Science Subsystem (ISS) onboard regularly imaged the atmosphere. We created time-lapse movies from this period in order to analyze the dynamics of equatorial hot spots and their interactions with adjacent latitudes. Hot spots are relatively cloud-free regions that emit strongly at 5 lm; improved knowledge of these features is crucial for fully understanding Galileo probe measurements taken during its descent through one. Hot spots are quasistable, rectangular dark areas on visible-wavelength images, with defined eastern edges that sharply contrast with surrounding clouds, but diffuse western edges serving as nebulous boundaries with adjacent equatorial plumes. Hot spots exhibit significant variations in size and shape over timescales of days and weeks. Some of these changes correspond with passing vortex systems from adjacent latitudes interacting with hot spots. Strong anticyclonic gyres present to the south and southeast of the dark areas appear to circulate into hot spots. Impressive, bright white plumes occupy spaces in between hot spots. Compact cirrus-like 'scooter' clouds flow rapidly through the plumes before disappearing within the dark areas. These clouds travel at 150-200 m/s, much faster than the 100 m/s hot spot and plume drift speed. This raises the possibility that the scooter clouds may be more illustrative of the actual jet stream speed at these latitudes. Most previously published zonal wind profiles represent the drift speed of the hot spots at their latitude from pattern matching of the entire longitudinal image strip. If a downward branch of an equatorially-trapped Rossby wave controls the overall appearance of hot spots, however, the westward phase velocity of the wave leads to underestimates of the true jet stream speed.

Equivalent circuit-level model of quantum cascade lasers with integrated hot-electron and hot-phonon effects

Science.gov (United States)

Yousefvand, H. R.

2017-12-01

We report a study of the effects of hot-electron and hot-phonon dynamics on the output characteristics of quantum cascade lasers (QCLs) using an equivalent circuit-level model. The model is developed from the energy balance equation to adopt the electron temperature in the active region levels, the heat transfer equation to include the lattice temperature, the nonequilibrium phonon rate to account for the hot phonon dynamics and simplified two-level rate equations to incorporate the carrier and photon dynamics in the active region. This technique simplifies the description of the electron-phonon interaction in QCLs far from the equilibrium condition. Using the presented model, the steady and transient responses of the QCLs for a wide range of sink temperatures (80 to 320 K) are investigated and analysed. The model enables us to explain the operating characteristics found in QCLs. This predictive model is expected to be applicable to all QCL material systems operating in pulsed and cw regimes.

Hot Mix Asphalt Recycling : Practices and Principles

NARCIS (Netherlands)

Mohajeri, M.

2015-01-01

Hot mix asphalt recycling has become common practice all over the world since the 1970s because of the crisis in oil prices. In the Netherlands, hot recycling has advanced to such an extent that in most of the mixtures more than 50% of reclaimed asphalt (RA) is allowed. These mixtures with such a

KFC Server: interactive forecasting of protein interaction hot spots.

Science.gov (United States)

Darnell, Steven J; LeGault, Laura; Mitchell, Julie C

2008-07-01

The KFC Server is a web-based implementation of the KFC (Knowledge-based FADE and Contacts) model-a machine learning approach for the prediction of binding hot spots, or the subset of residues that account for most of a protein interface's; binding free energy. The server facilitates the automated analysis of a user submitted protein-protein or protein-DNA interface and the visualization of its hot spot predictions. For each residue in the interface, the KFC Server characterizes its local structural environment, compares that environment to the environments of experimentally determined hot spots and predicts if the interface residue is a hot spot. After the computational analysis, the user can visualize the results using an interactive job viewer able to quickly highlight predicted hot spots and surrounding structural features within the protein structure. The KFC Server is accessible at http://kfc.mitchell-lab.org.

Rare and unexpected beta thalassemic mutations in Qazvin ...

African Journals Online (AJOL)

About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTAcontaining venous ...

Rare and unexpected beta thalassemic mutations in Qazvin ...

African Journals Online (AJOL)

STORAGESEVER

2010-01-04

Jan 4, 2010 ... About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTA-.

Plant breeding by using radiation mutation

International Nuclear Information System (INIS)

Song, Hi Sup; Kim, Jin Kyu; Shin, In Chul and others; Yang, Seung Gyun; Choi, Soon Ho; Lee, Jang Ha; Lee, Hyo Yeon; Seo, Yong Won; Lim, Yong Pyo

2003-04-01

To improve the crop varieties by using radiation mutation, various mutant lines were selected from the materials irradiated with gamma ray by both in vivo and in vitro mutagenesis. As in vitro selection breeding, various cell lines each with salt, 5-MT and Systeine tolerance were selected from the irradiated calli of rice, and then DNA and molecular markers related with their tolerances were identified. And the rice mutant lines selected from cell lines were evaluated and then some of promising lines were selected by the field trial. Four mutant rice cultivars(Wonmibyeo, Wonpyongbyeo, Heugseonchalbyeo, Wongwangbyeo) were released and their seeds were distributed to farmers. A high quality mutant rice cultivar, Woncheongbyeo, was newly registered. And developed five new cultivars, Wonkangbyeo, Wonpumbyeo, Wonchubyeo, Heugkwangchalbyeo, Nogwonchalbyeo and three mutant cultivars of the rose of Sharon (Mugunghwa) such as Ggoma, Seonnyo, Daegwang were applied to register the national new cultivar list. About promising 30 mutant lines of rice and Mugunghwa were done the field trials and proliferation. Promising soybean mutant lines were selected for improvement of soybean disease resistant, ecological traits and soybean seed quality. Other related two researches not only on development of disease tolerant lines of hot pepper, but also on development of herbicide-resistant cell lines using radiation irradiation, were carried out as a joint projects

Resolving Hot Spots in the C-Terminal Dimerization Domain that Determine the Stability of the Molecular Chaperone Hsp90

Science.gov (United States)

Reimann, Sven; Smits, Sander H. J.; Schmitt, Lutz; Groth, Georg; Gohlke, Holger

2014-01-01

Human heat shock protein of 90 kDa (hHsp90) is a homodimer that has an essential role in facilitating malignant transformation at the molecular level. Inhibiting hHsp90 function is a validated approach for treating different types of tumors. Inhibiting the dimerization of hHsp90 via its C-terminal domain (CTD) should provide a novel way to therapeutically interfere with hHsp90 function. Here, we predicted hot spot residues that cluster in the CTD dimerization interface by a structural decomposition of the effective energy of binding computed by the MM-GBSA approach and confirmed these predictions using in silico alanine scanning with DrugScorePPI. Mutation of these residues to alanine caused a significant decrease in the melting temperature according to differential scanning fluorimetry experiments, indicating a reduced stability of the mutant hHsp90 complexes. Size exclusion chromatography and multi-angle light scattering studies demonstrate that the reduced stability of the mutant hHsp90 correlates with a lower complex stoichiometry due to the disruption of the dimerization interface. These results suggest that the identified hot spot residues can be used as a pharmacophoric template for identifying and designing small-molecule inhibitors of hHsp90 dimerization. PMID:24760083

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

Directory of Open Access Journals (Sweden)

Udhaya H Kotecha

2014-01-01

Full Text Available Background & objectives: Multiple suphphatase deficiency (MSD is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1. We describe here the mutation analysis of a case of MSD. Methods: The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group. Results: The patient was compound heterozygote for a c.451A>G (p.K151E substitution in exon 3 and a single base insertion mutation (c.690_691 InsT in exon 5 in the SUMF1 gene. The bioinformatic analysis of the missense mutation revealed no apparent effect on the overall structure. However, the mutated 151-amino acid residue was found to be adjacent to the substrate binding and the active site residues, thereby affecting the substrate binding and/or catalytic activity, resulting in almost complete loss of enzyme function. Conclusions: The two mutations identified in the present case were novel. This is perhaps the first report of an insertion mutation in SUMF1 causing premature truncation of the protein.

Nuclear track radiography of 'hot' aerosol particles

International Nuclear Information System (INIS)

Boulyga, S.F.; Kievitskaja, A.I.; Kievets, M.K.; Lomonosova, E.M.; Zhuk, I.V.; Yaroshevich, O.I.; Perelygin, V.P.; Petrova, R.; Brandt, R.; Vater, P.

1999-01-01

Nuclear track radiography was applied to identify aerosol 'hot' particles which contain elements of nuclear fuel and fallout after Chernobyl NPP accident. For the determination of the content of transuranium elements in radioactive aerosols the measurement of the α-activity of 'hot' particles by SSNTD was used in this work, as well as radiography of fission fragments formed as a result of the reactions (n,f) and (γ,f) in the irradiation of aerosol filters by thermal neutrons and high energy gamma quanta. The technique allowed the sizes and alpha-activity of 'hot' particles to be determined without extracting them from the filter, as well as the determination of the uranium content and its enrichment by 235 U, 239 Pu and 241 Pu isotopes. Sensitivity of determination of alpha activity by fission method is 5x10 -6 Bq per particle. The software for the system of image analysis was created. It ensured the identification of track clusters on an optical image of the SSNTD surface obtained through a video camera and the determination of size and activity of 'hot' particles

Geothermal energy and hot springs in Ethiopia

Energy Technology Data Exchange (ETDEWEB)

Koga, T. (Hot Springs Therapeutics Research Institute, Kyushu, Univ., Japan)

1971-01-01

The hot springs in Ethiopia are concentrated in two areas: the North Afar depression and adjacent Red Sea shore, and a geothermal field 100 km from northeast to southwest in the central part of Ethiopia. The latter extends not only to the Great Rift Valley but also to the Aden Gulf. In the lake district in the central Great Rift Valley, there are a number of hot springs on the lake shore. These are along NE-SW fault lines, and the water is a sodium bicarbonate-type rich in HCO/sub 3/ and Na but low in C1 and Ca. In Dallol in the North Afar depression, CO/sub 2/-containing hot springs with high temperatures (110/sup 0/C) and a specific gravity of 1.4, were observed. In the South Afar depression, located in the northeastern part of the Rift Valley, there are many active volcanoes and hot springs between the lake district and the Danakil depression. The spring water is a sodium bicarbonate saline type. Nine graphs and maps are included.

Asymptotics of steady states of a selection–mutation equation for small mutation rate

KAUST Repository

Calsina, Àngel

2013-12-01

We consider a selection-mutation equation for the density of individuals with respect to a continuous phenotypic evolutionary trait. We assume that the competition term for an individual with a given trait depends on the traits of all the other individuals, therefore giving an infinite-dimensional nonlinearity. Mutations are modelled by means of an integral operator. We prove existence of steady states and show that, when the mutation rate goes to zero, the asymptotic profile of the population is a Cauchy distribution. © Royal Society of Edinburgh 2013.

Asymptotics of steady states of a selection–mutation equation for small mutation rate

KAUST Repository

Calsina, À ngel; Cuadrado, Sí lvia; Desvillettes, Laurent; Raoul, Gaë l

2013-01-01

We consider a selection-mutation equation for the density of individuals with respect to a continuous phenotypic evolutionary trait. We assume that the competition term for an individual with a given trait depends on the traits of all the other individuals, therefore giving an infinite-dimensional nonlinearity. Mutations are modelled by means of an integral operator. We prove existence of steady states and show that, when the mutation rate goes to zero, the asymptotic profile of the population is a Cauchy distribution. © Royal Society of Edinburgh 2013.

Hot ductility of a microalloyed steel in the intermediate temperature range

International Nuclear Information System (INIS)

Darsouni, A.; Bouzabata, B.; Montheillet, F.

1995-01-01

In this study hot ductility has been determined from tensile tests for two states of a microalloyed steel: after casting and after rolling processes. Hot deformations were carried out at speeds varying from 10 -4 s -1 to 10 -2 s -1 and temperatures from 750 C to 1100 C. Two heat treatments were chosen before hot deformation. A ferrite precipitation is observed at austenitic grain boundaries in the intercritical temperature range, causing intergranular embrittlement. Ductility trough is deeper in the as-cast samples due to the growth of large grain size. Also, precipitation makes the hot ductility curve wider and deeper around 900 C. The results show a decrease in hot ductility. Minimum values of hot ductility are determined for (ITC) treatment at 900 C and for (DTC) treatment at 800 C. For this second treatment another decrease in hot ductility was observed at 900 C. We can explain hot ductility losses by the presence of precipitates in the austenitic region and the presence of the two-phase structure in the intercritical region. (orig.)

Mutation breeding in ornamental plants

International Nuclear Information System (INIS)

Datta, S.K.

1990-01-01

Full text: Mutation induction produced a large number of new promising varieties in ornamental species. 37 new mutants of Chrysanthemum and 14 of rose have been developed by mutations and released for commercialisation. The mutations in flower colour/shape were detected as chimeras in M 1 V 1 , M 1 V 2 , M 1 V 3 generations. The mutation frequency varied with the cultivar and exposure to gamma rays. Comparative analysis of original cultivars and their respective induced mutants on cytomorphological, anatomical and biochemical characters are being carried out for better understanding of the mechanism involved in the origin and evolution of somatic flower colour/shape mutations. Cytological analysis with reference to chromosomal aberrations, chromosome number, ICV, INV and DNA content gave no differences between the original and mutant cultivars. Analysis of florets/petal pigments by TLC and spectrophotometric methods indicated both qualitative and quantitative changes. (author)

Mutations Found in embCAB, embR, and ubiA Genes of Ethambutol-Sensitive and -Resistant Mycobacterium tuberculosis Clinical Isolates from China

Directory of Open Access Journals (Sweden)

Yuhui Xu

2015-01-01

Full Text Available To better understand the molecular mechanisms of Ethambutol (EMB resistance, the mutant hot spot region of five genes (embB, embA, embC, embR, and ubiA was amplified and sequenced in 109 EMB-resistant and 153 EMB-susceptible clinical isolates from China. Twenty-seven EMB-susceptible isolates were found to have nonsynonym mutations, 23 of which were in embB. The mutations occurred most frequently in embB (85.3%, 93 and were seldom in embC (2.8%, 3, embA (3.7%, 4, embR (3.7%, 4, and ubiA (8.3%, 9 in EMB-resistant isolates. For the embB gene, 63 isolates showed mutations at embB306, 20 at embB406, nine at embB497, and five at embB354 in EMB-resistant isolates. In addition, the particular mutants at embB406 and embB497 indicated both high levels of EMB resistance (MICs>5 μg/mL and broad anti-TB drug resistance spectrums. Our data supported the facts that embB306 could be used as a marker for EMB resistance with a sensitivity of 57.8% and a specificity of 78.8%.

E-Learning to Improve Higher Order Thinking Skills (HOTS of Students

Directory of Open Access Journals (Sweden)

R. Poppy Yaniawati

2013-05-01

Full Text Available The role of technology integration on modern learning is essential to optimize the acceleration process in Higher Order Thinking Skills (HOTS. This research describes how to implement e-learning to improve HOTS of students and students’ attitude toward e-learning of mathematics, pre- learning students knowledge, duration of login in website, and correlation of variables with HOTS. There is a significant correlation between pre-learning knowledge and students’ HOTS, but there is no significant correlation between students’ HOTS and students’ attitude toward e-learning of mathematics. There is a significant correlation between login duration and students attitude toward e-learning of mathematics. No significant correlation is found between login duration and students’ HOTS.

Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channel of the tomato leaf miner (Tuta absoluta).

Science.gov (United States)

Haddi, Khalid; Berger, Madeleine; Bielza, Pablo; Cifuentes, Dina; Field, Linda M; Gorman, Kevin; Rapisarda, Carmelo; Williamson, Martin S; Bass, Chris

2012-07-01

The tomato leaf miner, Tuta absoluta (Lepidoptera) is a significant pest of tomatoes that has undergone a rapid expansion in its range during the past six years and is now present across Europe, North Africa and parts of Asia. One of the main means of controlling this pest is through the use of chemical insecticides. In the current study insecticide bioassays were used to determine the susceptibility of five T. absoluta strains established from field collections from Europe and Brazil to pyrethroids. High levels of resistance to λ cyhalothrin and tau fluvalinate were observed in all five strains tested. To investigate whether pyrethroid resistance was mediated by mutation of the para-type sodium channel in T. absoluta the IIS4-IIS6 region of the para gene, which contains many of the mutation sites previously shown to confer knock down (kdr)-type resistance to pyrethroids across a range of different arthropod species, was cloned and sequenced. This revealed that three kdr/super-kdr-type mutations (M918T, T929I and L1014F), were present at high frequencies within all five resistant strains at known resistance 'hot-spots'. This is the first description of these mutations together in any insect population. High-throughput DNA-based diagnostic assays were developed and used to assess the prevalence of these mutations in 27 field strains from 12 countries. Overall mutant allele frequencies were high (L1014F 0.98, M918T 0.35, T929I 0.60) and remarkably no individual was observed that did not carry kdr in combination with either M918T or T929I. The presence of these mutations at high frequency in T. absoluta populations across much of its range suggests pyrethroids are likely to be ineffective for control and supports the idea that the rapid expansion of this species over the last six years may be in part mediated by the resistance of this pest to chemical insecticides. Crown Copyright © 2012. Published by Elsevier Ltd. All rights reserved.

BRAF mutations in conjunctival melanoma

DEFF Research Database (Denmark)

Larsen, Ann-Cathrine; Dahl, Christina; Dahmcke, Christina M.

2016-01-01

with atypia. BRAF mutations were identified in 39 of 111 (35%) cases. The rate ratio of BRAF-mutated versus BRAF-wild-type melanoma did not change over time. BRAF mutations were associated with T1 stage (p = 0.007), young age (p = 0.001), male gender (p = 0.02), sun-exposed location (p = 0.01), mixed....../non-pigmented tumour colour (p = 0.02) and nevus origin (p = 0.005), but did not associate with prognosis. BRAF status in conjunctival melanoma and paired premalignant lesions corresponded in 19 of 20 cases. Immunohistochemistry detected BRAF V600E mutations with a sensitivity of 0.94 and a specificity of 1...

Children in Hot Cars Result in Fatal Consequences

Medline Plus

Full Text Available ... Health Tips » Holiday and Seasonal Children in Hot Cars Result in Fatal Consequences Emergency physicians are warning ... with leaving anyone, especially children in hot, unventilated vehicles during the summer. Children throughout the country die ...

Children in Hot Cars Result in Fatal Consequences

Medline Plus

Full Text Available ... of Emergency Phycisians Toggle navigation Emergency 101 Is it an Emergency? Emergency Care or Urgent Care? When ... being left alone in a hot vehicle. “Putting it bluntly, leaving your child in a hot car ...

Children in Hot Cars Result in Fatal Consequences

Medline Plus

Full Text Available ... Health Tips » Holiday and Seasonal Children in Hot Cars Result in Fatal Consequences Emergency physicians are warning ... it bluntly, leaving your child in a hot car is like leaving your child in a lit ...

Children in Hot Cars Result in Fatal Consequences

Medline Plus

Full Text Available ... with leaving anyone, especially children in hot, unventilated vehicles during the summer. Children throughout the country die ... result of being left alone in a hot vehicle. “Putting it bluntly, leaving your child in a ...

Children in Hot Cars Result in Fatal Consequences

Medline Plus

Full Text Available ... year as a direct result of being left alone in a hot vehicle. “Putting it bluntly, leaving ... from children. If you see a child left alone in a hot vehicle, call the police. If ...

Mutational meltdown in laboratory yeast populations

NARCIS (Netherlands)

Zeyl, C.; Mizesko, M.; Visser, de J.A.G.M.

2001-01-01

In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because

Mutational robustness of gene regulatory networks.

Directory of Open Access Journals (Sweden)

Aalt D J van Dijk

Full Text Available Mutational robustness of gene regulatory networks refers to their ability to generate constant biological output upon mutations that change network structure. Such networks contain regulatory interactions (transcription factor-target gene interactions but often also protein-protein interactions between transcription factors. Using computational modeling, we study factors that influence robustness and we infer several network properties governing it. These include the type of mutation, i.e. whether a regulatory interaction or a protein-protein interaction is mutated, and in the case of mutation of a regulatory interaction, the sign of the interaction (activating vs. repressive. In addition, we analyze the effect of combinations of mutations and we compare networks containing monomeric with those containing dimeric transcription factors. Our results are consistent with available data on biological networks, for example based on evolutionary conservation of network features. As a novel and remarkable property, we predict that networks are more robust against mutations in monomer than in dimer transcription factors, a prediction for which analysis of conservation of DNA binding residues in monomeric vs. dimeric transcription factors provides indirect evidence.

Utilizing hot electrons

Energy Technology Data Exchange (ETDEWEB)

Nozik, Arthur J.

2018-03-01

In current solar cells, any photon energy exceeding the semiconductor bandgap is lost before being collected, limiting the cell performance. Hot carrier solar cells could avoid these losses. Now, a detailed experimental study and analysis shows that this strategy could lead to an improvement of the photoconversion efficiency in practice.

Effect of Soybeans on Hot Flashes in Postmenopausal Women

Directory of Open Access Journals (Sweden)

H Mozaffari-khosravi

2009-10-01

Full Text Available Introduction: Hot flashes are common and discomfortable signs of menopause that present with blazing sweatiness, sense of hotness, tachycardia and agitation. Hot flashes cause disturbances in daily activity and quality of night sleep. In spite of the effect of Hormone Replacement Therapy (HRT on hot flashes, nowadays, there are diverse opinions about HRT and the reason is that it has chronic complications. In addition, the acceptance of HRT by Iranian women is very low. Study of numerous texts has shown that isofliavone present in soybean is a phytoestrogen that could be effective in control of hot flashes. The purpose of the study is to examine the changes in time periods of hot flashes in response to consumption of 74 mg Isoflavone/day present in 60 grams soybeans in menopausal women. Methods: This study was a clinical trial with before and after design that included 31 postmenopausal women. The participants were assessed with respect to daily hot flashes at baseline and after one, two and three months of intervention. Participants consumed daily 60 grams soybeans for 3 months. Blood samples were taken at the start and end of intervention for determining levels of gonadotropins and estradiol. Data was analyzed by SPSS software. Results: There was a decrease in time period of hot flashes from baseline of 5.88±2.61 to 3.45±1.82 after one month, 2.73±1.57 after two months and 2.16±1.48 after three months of consumption of soybeans (P<0.001. There was decrease in levels of FSH, LH & estradiol after 3 months, but this decrease was not significant, except in the case of estradiol. Conclusion: In line with various studies proposing the use of soybeans in the form of concentrate, drink or capsule, this study suggests that consumption of soybeans (60 gr daily as snacks may be a safe and effective method for controlling hot flashes in postmenopausal women..

Bacterial and archaeal diversities in Yunnan and Tibetan hot springs, China.

Science.gov (United States)

Song, Zhao-Qi; Wang, Feng-Ping; Zhi, Xiao-Yang; Chen, Jin-Quan; Zhou, En-Min; Liang, Feng; Xiao, Xiang; Tang, Shu-Kun; Jiang, Hong-Chen; Zhang, Chuanlun L; Dong, Hailiang; Li, Wen-Jun

2013-04-01

Thousands of hot springs are located in the north-eastern part of the Yunnan-Tibet geothermal zone, which is one of the most active geothermal areas in the world. However, a comprehensive and detailed understanding of microbial diversity in these hot springs is still lacking. In this study, bacterial and archaeal diversities were investigated in 16 hot springs (pH 3.2-8.6; temperature 47-96°C) in Yunnan Province and Tibet, China by using a barcoded 16S rRNA gene-pyrosequencing approach. Aquificae, Proteobacteria, Firmicutes, Deinococcus-Thermus and Bacteroidetes comprised the large portion of the bacterial communities in acidic hot springs. Non-acidic hot springs harboured more and variable bacterial phyla than acidic springs. Desulfurococcales and unclassified Crenarchaeota were the dominated groups in archaeal populations from most of the non-acidic hot springs; whereas, the archaeal community structure in acidic hot springs was simpler and characterized by Sulfolobales and Thermoplasmata. The phylogenetic analyses showed that Aquificae and Crenarchaeota were predominant in the investigated springs and possessed many phylogenetic lineages that have never been detected in other hot springs in the world. Thus findings from this study significantly improve our understanding of microbial diversity in terrestrial hot springs. © 2012 Society for Applied Microbiology and Blackwell Publishing Ltd.

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Science.gov (United States)

Zhao, Yang; Hosono, Katsuhiro; Suto, Kimiko; Ishigami, Chie; Arai, Yuuki; Hikoya, Akiko; Hirami, Yasuhiko; Ohtsubo, Masafumi; Ueno, Shinji; Terasaki, Hiroko; Sato, Miho; Nakanishi, Hiroshi; Endo, Shiori; Mizuta, Kunihiro; Mineta, Hiroyuki; Kondo, Mineo; Takahashi, Masayo; Minoshima, Shinsei; Hotta, Yoshihiro

2014-09-01

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes among Caucasian populations. To identify disease-causing USH2A gene mutations in Japanese RP patients, all 73 exons were screened for mutations by direct sequencing. In total, 100 unrelated Japanese RP patients with no systemic manifestations were identified, excluding families with obvious autosomal dominant inheritance. Of these 100 patients, 82 were included in this present study after 18 RP patients with very likely pathogenic EYS (eyes shut homolog) mutations were excluded. The mutation analysis of the USH2A revealed five very likely pathogenic mutations in four patients. A patient had only one very likely pathogenic mutation and the others had two of them. Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. All the four patients exhibited typical clinical features of RP. The observed prevalence of USH2A gene mutations was approximately 4% among Japanese arRP patients, and the profile of the USH2A gene mutations differed largely between Japanese patients and previously reported Caucasian populations.

Solar Energy for Space Heating & Hot Water.

Science.gov (United States)

Energy Research and Development Administration, Washington, DC. Div. of Solar Energy.

This pamphlet reviews the direct transfer of solar energy into heat, particularly for the purpose of providing space and hot water heating needs. Owners of buildings and homes are provided with a basic understanding of solar heating and hot water systems: what they are, how they perform, the energy savings possible, and the cost factors involved.…

Adaptive mutation: has the unicorn landed?

Science.gov (United States)

Foster, P L

1998-04-01

Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution.

Adaptive mutation: has the unicorn landed?

Science.gov (United States)

Foster, P L

1998-01-01

Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution. PMID:9560365

SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.

Science.gov (United States)

Inoue, D; Kitaura, J; Matsui, H; Hou, H-A; Chou, W-C; Nagamachi, A; Kawabata, K C; Togami, K; Nagase, R; Horikawa, S; Saika, M; Micol, J-B; Hayashi, Y; Harada, Y; Harada, H; Inaba, T; Tien, H-F; Abdel-Wahab, O; Kitamura, T

2015-04-01

Mutations in ASXL1 are frequent in patients with myelodysplastic syndrome (MDS) and are associated with adverse survival, yet the molecular pathogenesis of ASXL1 mutations (ASXL1-MT) is not fully understood. Recently, it has been found that deletion of Asxl1 or expression of C-terminal-truncating ASXL1-MTs inhibit myeloid differentiation and induce MDS-like disease in mice. Here, we find that SET-binding protein 1 (SETBP1) mutations (SETBP1-MT) are enriched among ASXL1-mutated MDS patients and associated with increased incidence of leukemic transformation, as well as shorter survival, suggesting that SETBP1-MT play a critical role in leukemic transformation of MDS. We identify that SETBP1-MT inhibit ubiquitination and subsequent degradation of SETBP1, resulting in increased expression. Expression of SETBP1-MT, in turn, inhibited protein phosphatase 2A activity, leading to Akt activation and enhanced expression of posterior Hoxa genes in ASXL1-mutant cells. Biologically, SETBP1-MT augmented ASXL1-MT-induced differentiation block, inhibited apoptosis and enhanced myeloid colony output. SETBP1-MT collaborated with ASXL1-MT in inducing acute myeloid leukemia in vivo. The combination of ASXL1-MT and SETBP1-MT activated a stem cell signature and repressed the tumor growth factor-β signaling pathway, in contrast to the ASXL1-MT-induced MDS model. These data reveal that SETBP1-MT are critical drivers of ASXL1-mutated MDS and identify several deregulated pathways as potential therapeutic targets in high-risk MDS.

Archaeal diversity in Icelandic hot springs

DEFF Research Database (Denmark)

Kvist, Thomas; Ahring, Birgitte Kiær; Westermann, Peter

2007-01-01

Whole-cell density gradient extractions from three solfataras (pH 2.5) ranging in temperature from 81 to 90 degrees C and one neutral hot spring (81 degrees C, pH 7) from the thermal active area of Hveragerethi (Iceland) were analysed for genetic diversity and local geographical variation...... of Archaea by analysis of amplified 16S rRNA genes. In addition to the three solfataras and the neutral hot spring, 10 soil samples in transects of the soil adjacent to the solfataras were analysed using terminal restriction fragment length polymorphism (t-RFLP). The sequence data from the clone libraries...... enzymes AluI and BsuRI. The sequenced clones from this solfatara belonged to Sulfolobales, Thermoproteales or were most closest related to sequences from uncultured Archaea. Sequences related to group I.1b were not found in the neutral hot spring or the hyperthermophilic solfatara (90 degrees C)....

Hot carrier degradation in semiconductor devices

CERN Document Server

2015-01-01

This book provides readers with a variety of tools to address the challenges posed by hot carrier degradation, one of today’s most complicated reliability issues in semiconductor devices.  Coverage includes an explanation of carrier transport within devices and book-keeping of how they acquire energy (“become hot”), interaction of an ensemble of colder and hotter carriers with defect precursors, which eventually leads to the creation of a defect, and a description of how these defects interact with the device, degrading its performance. • Describes the intricacies of hot carrier degradation in modern semiconductor technologies; • Covers the entire hot carrier degradation phenomenon, including topics such as characterization, carrier transport, carrier-defect interaction, technological impact, circuit impact, etc.; • Enables detailed understanding of carrier transport, interaction of the carrier ensemble with the defect precursors, and an accurate assessment of how the newly created defects imp...

Angular response of hot wire probes

International Nuclear Information System (INIS)

Di Mare, L; Jelly, T O; Day, I J

2017-01-01

A new equation for the convective heat loss from the sensor of a hot-wire probe is derived which accounts for both the potential and the viscous parts of the flow past the prongs. The convective heat loss from the sensor is related to the far-field velocity by an expression containing a term representing the potential flow around the prongs, and a term representing their viscous effect. This latter term is absent in the response equations available in the literature but is essential in representing some features of the observed response of miniature hot-wire probes. The response equation contains only four parameters but it can reproduce, with great accuracy, the behaviour of commonly used single-wire probes. The response equation simplifies the calibration the angular response of rotated slanted hot-wire probes: only standard King’s law parameters and a Reynolds-dependent drag coefficient need to be determined. (paper)

Diversity of ARSACS mutations in French-Canadians.

Science.gov (United States)

Thiffault, I; Dicaire, M J; Tetreault, M; Huang, K N; Demers-Lamarche, J; Bernard, G; Duquette, A; Larivière, R; Gehring, K; Montpetit, A; McPherson, P S; Richter, A; Montermini, L; Mercier, J; Mitchell, G A; Dupré, N; Prévost, C; Bouchard, J P; Mathieu, J; Brais, B

2013-01-01

The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two known SACS mutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability. Search for SACS mutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin. A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98 SACS mutations did not uncover carriers of two mutations. Compounds heterozygotes for one missense SACS mutation were found to minimally express sacsin. The large number of SACS mutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge of SACS mutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

Hot air balloon engine

Energy Technology Data Exchange (ETDEWEB)

Edmonds, Ian [Solartran Pty Ltd, 12 Lentara Street, Kenmore, Brisbane 4069 (Australia)

2009-04-15

This paper describes a solar powered reciprocating engine based on the use of a tethered hot air balloon fuelled by hot air from a glazed collector. The basic theory of the balloon engine is derived and used to predict the performance of engines in the 10 kW to 1 MW range. The engine can operate over several thousand metres altitude with thermal efficiencies higher than 5%. The engine thermal efficiency compares favorably with the efficiency of other engines, such as solar updraft towers, that also utilize the atmospheric temperature gradient but are limited by technical constraints to operate over a much lower altitude range. The increased efficiency allows the use of smaller area glazed collectors. Preliminary cost estimates suggest a lower $/W installation cost than equivalent power output tower engines. (author)

The hot chocolate effect

Science.gov (United States)

Crawford, Frank S.

1982-05-01

The ''hot chocolate effect'' was investigated quantitatively, using water. If a tall glass cylinder is filled nearly completely with water and tapped on the bottom with a softened mallet one can detect the lowest longitudinal mode of the water column, for which the height of the water column is one-quarter wavelength. If the cylinder is rapidly filled with hot tap water containing dissolved air the pitch of that mode may descend by nearly three octaves during the first few seconds as the air comes out of solution and forms bubbles. Then the pitch gradually rises as the bubbles float to the top. A simple theoretical expression for the pitch ratio is derived and compared with experiment. The agreement is good to within the 10% accuracy of the experiments.

Chloroplast mutations induced by 9-aminoacridine hydrochloride are independent of the plastome mutator in Oenothera.

Science.gov (United States)

GuhaMajumdar, M; Baldwin, S; Sears, B B

2004-02-01

Oenothera plants homozygous for the recessive plastome mutator allele ( pm) show chloroplast DNA (cpDNA) mutation frequencies that are about 1,000-fold higher than spontaneous levels. The pm-encoded gene product has been hypothesized to have a function in cpDNA replication, repair and/or mutation avoidance. Previous chemical mutagenesis experiments with the alkylating agent nitroso-methyl urea (NMU) showed a synergistic effect of NMU on the induction of mutations in the pm line, suggesting an interaction between the pm-encoded gene product and one of the repair systems that corrects alkylation damage. The goal of the experiments described here was to examine whether the pm activity extends to the repair of damage caused by non-alkylating mutagens. To this end, the intercalating mutagen, 9-aminoacridine hydrochloride (9AA) was tested for synergism with the plastome mutator. A statistical analysis of the data reported here indicates that the pm-encoded gene product is not involved in the repair of the 9AA-induced mutations. However, the recovery of chlorotic sectors in plants derived from the mutagenized seeds shows that 9AA can act as a mutagen of the chloroplast genome.

Evaluation of possible occurrence of mutation in MMR repair system genes in resistant and sensitiveclinical strains of Mycobacterium tuberculosisby using sequencing method

Directory of Open Access Journals (Sweden)

AmirPoyan Afzali

2016-07-01

2. Importance of this is determined by study of encoded proteins by these two genes and position of mut t4thanmut T2 in the MUT HLS spatial structure of protein complex. Results of comparison of drug resistance and occurrence of mutations in hot-spots of mut T2 and mut T4 genes illustrated that these genes are conserved in resistant strains. However, there is no significant relation in susceptible strains.

Signatures of mutational processes in human cancer

NARCIS (Netherlands)

Alexandrov, L.B.; Nik-Zainal, S.; Wedge, D.C.; Aparicio, S.A.; Behjati, S.; Biankin, A.V.; Bignell, G.R.; Bolli, N.; Borg, A.; Borresen-Dale, A.L.; Boyault, S.; Burkhardt, B.; Butler, A.P.; Caldas, C.; Davies, H.R.; Desmedt, C.; Eils, R.; Eyfjord, J.E.; Foekens, J.A.; Greaves, M.; Hosoda, F.; Hutter, B.; Ilicic, T.; Imbeaud, S.; Imielinsk, M.; Jager, N.; Jones, D.T.; Knappskog, S.; Kool, M.; Lakhani, S.R.; Lopez-Otin, C.; Martin, S.; Munshi, N.C.; Nakamura, H.; Northcott, P.A.; Pajic, M.; Papaemmanuil, E.; Paradiso, A.; Pearson, J.V.; Puente, X.S.; Raine, K.; Ramakrishna, M.; Richardson, A.L.; Richter, J.; Rosenstiel, P.; Schlesner, M.; Schumacher, T.N.; Span, P.N.; Teague, J.W.; Totoki, Y.; Tutt, A.N.; Valdes-Mas, R.; Buuren, M.M. van; Veer, L. van 't; Vincent-Salomon, A.; Waddell, N.; Yates, L.R.; Zucman-Rossi, J.; Futreal, P.A.; McDermott, U.; Lichter, P.; Meyerson, M.; Grimmond, S.M.; Siebert, R.; Campo, E.; Shibata, T.; Pfister, S.M.; Campbell, P.J.; Stratton, M.R.; Schlooz-Vries, M.S.; Tol, J.J. van; Laarhoven, H.W. van; Sweep, F.C.; Bult, P.; et al.,

2013-01-01

All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362

HEAT LOSS FROM HOT WATER SUPPLY LINE IN A RESIDENTIAL BUILDING

OpenAIRE

近藤, 修平; 鉾井, 修一

2011-01-01

In order to the evaluate heat loss from hot water supply lines in a residential building, hot water demand in a house in Chiba prefecture was measured and analyzed. The following results were obtained. 1. The heat loss of the hot water supply line was about 132kJ for the shower and 110kJ for the bathtub in winter. Since the temperature difference between the inlet and outlet of the hot water supply line is small, the measured heat loss from the hot water supply line sometimes becomes negative...

Hot ion buildup and lifetime in LITE. Final report

International Nuclear Information System (INIS)

1978-09-01

An experimental investigation of hot ion buildup and lifetime in a small scale mirror device (LITE) is described. Hot ions were produced by 27 kV neutral beam injection into laser produced LiH plasmas and H plasmas produced by a washer gun. Hot H ion (12 kV) densities of approx. = 10 12 cm -3 were produced with the LiH target plasmas and densities an order of magnitude lower were produced with the washer gun target plasmas. Hot ion dominant plasmas were not achieved in LITE. The experimental measurements and subsequent analysis using numerical models of the plasma buildup indicate that in small, unshielded mirror plasmas, careful control must be maintained over the transient background gas density in the vicinity of the plasma surface. The hot ion lifetime in LITE was set by the transient cold neutral background resulting from the washer gun of reflux from the target plasma striking the adjacent surfaces

Upgrading of biomass by carbonization in hot compressed water

Directory of Open Access Journals (Sweden)

Wiwut Tanthapanichakoon

2006-09-01

Full Text Available Carbonization of biomass (corn cob in hot compressed water was performed using a small bomb reactor at temperature 300-350ºC and pressure 10-18 MPa for 30 min. Then, the solid product or biochar was subjected to various analyses in order to investigate the effects of the carbonization in hot compressed water on the characteristics of the biochar. It was found that the yield of biochar carbonized in hot compressed water at 350ºC and pressure of 10 MPa for 30 min was 44.7%, whereas the yield of biochar carbonized in nitrogen atmosphere at 350ºC is 36.4%. Based on the information obtained from the elemental analyses of the biochar, it was found that the oxygen functional groups in the corn cob were selectively decomposed during the carbonization in hot compressed water. The pyrolysis and combustion behaviors of the biochar were found to be affected significantly by the carbonization in hot compressed water.

Experimental and numerical analyses of magnesium alloy hot workability

Directory of Open Access Journals (Sweden)

F. Abbassi

2016-12-01

Full Text Available Due to their hexagonal crystal structure, magnesium alloys have relatively low workability at room temperature. In this study, the hot workability behavior of cast-extruded AZ31B magnesium alloy is studied through hot compression testing, numerical modeling and microstructural analyses. Hot deformation tests are performed at temperatures of 250 °C to 400 °C under strain rates of 0.01 to 1.0 s−1. Transmission electron microscopy is used to reveal the presence of dynamic recrystallization (DRX, dynamic recovery (DRY, cracks and shear bands. To predict plastic instabilities during hot compression tests of AZ31B magnesium alloy, the authors use Johnson–Cook damage model in a 3D finite element simulation. The optimal hot workability of magnesium alloy is found at a temperature (T of 400 °C and strain rate (ε˙ of 0.01 s−1. Stability is found at a lower strain rate, and instability is found at a higher strain rate.

MPL mutations in myeloproliferative disorders

DEFF Research Database (Denmark)

Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.

2008-01-01

Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

Effects of the umuC36 mutation on ultraviolet-radiation-induced base-change and frameshift mutations in Escherichia coli