Implementation and upgrading of operational I and C with Teleperm XP

International Nuclear Information System (INIS)

Heidowitzsch, B.

2004-01-01

Teleperm XP is the digital IC platform especially developed and successfully implemented by Siemens AG for the modernization of normal operation IC in fossil fired and Nuclear Power Plants. After manifold usage in running German NPPs as well as in other countries all over the world it is going to be used also for IC modernization in the U.S.A, upcoming new plants like Finland 5 in Olkiluoto and in the next EPR to be built in France. The biggest Teleperm XP system was implemented at NPP Tianwan (VVER 1000) in China. (author)

Schools Facing the Expiration of Windows XP

Science.gov (United States)

Cavanagh, Sean

2013-01-01

Microsoft's plans to end support for Windows XP, believed to be the dominant computer operating system in K-12 education, could pose big technological and financial challenges for districts nationwide--issues that many school systems have yet to confront. The giant software company has made it clear for years that it plans to stop supporting XP…

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Science.gov (United States)

Dupont, Celine; Lebbar, Aziza; Teinturier, Cecile; Baverel, Françoise; Viot, Geraldine; Le Tessier, Dominique; Le Bozec, Jerome; Cuisset, Laurence; Dupont, Jean-Michel

2007-06-01

We report here on a 6-year-old boy referred to the laboratory for karyotyping and SHOX microdeletion testing. The most significant clinical findings in this boy were small stature, Madelung deformity, facial dysmorphism, mild mental retardation and behavioral problems. R-, G- and RTBG-banding chromosome analysis showed a normal male karyotype. Fine molecular characterization, by FISH, of terminal Xp microdeletion revealed an associated partial duplication. Further refinement of the molecular analysis indicated an inverted duplication of the Xp22.31-Xp22.32 (13.7 Mb) region including the STS, VCX-A and KAL1 genes, associated with a terminal Xp deletion Xp22.33-Xpter (3.6 Mb) encompassing the SHOX and ARSE genes. Such rearrangements have been characterized for other chromosomal pairs, but this is the first reported male patient involving the short arm of the X chromosome. Molecular analysis of the maternal and patient's microsatellite markers showed interchromatid mispairing leading to non-allelic homologous recombination to be the most likely mechanism underlying this rearrangement. This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro-rearrangements. Copyright (c) 2007 Wiley-Liss, Inc.

The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma

Energy Technology Data Exchange (ETDEWEB)

Zhu Qingqiang; Zhu Wenrong; Chen Wenxin; Wu Jingtao [Subei People' s Hospital, Clinical School of Medical Coll., Yangzhou (China)], e-mail: wujingtaodoctor@163.com; Wang Zhongqiu [Dept. of Radiology, East Hospital, Tongji Univ. School of Medicine, Shanghai (China)

2013-04-15

Background: Renal cell carcinoma associated with Xp11.2 translocation and TFE gene fusion (Xp11.2/TFE RCC), and collecting duct carcinoma (CDC) are uncommon subtypes of renal cell carcinomas. Purpose: To investigate the multislice CT (MSCT) characteristics of these two tumor types. Material and Methods Nine patients with Xp11.2/TFE RCC and 10 patients with CDC were studied retrospectively. MSCT was undertaken to investigate differences in tumor characteristics and enhancement patterns. Results: All patients had single tumors centered in the renal medulla. Two patients with each tumor type had lymph node involvement and there was a single case of hepatic metastasis (Xp11.2/TFE RCC). The mean tumor diameter of Xp11.2/TFE RCC tumors was significantly larger than for CDC tumors. Two patients with Xp11.2/TFE RCC had cystic components as did eight patients with CDC (P < 0.05). Calcifications were present in six patients, each with CDC. Clear tumor boundaries were visible in two patients with CDC and in nine with Xp11.2/TFE RCC (P < 0.05). The density of Xp11.2/TFE RCC tumors was greater than that of CDC tumors, normal renal cortex, or medulla on unenhanced CT. Enhancement was higher with Xp11.2/TFE RCC than with CDC tumors during all phases. Xp11.2/TFE RCC enhancement was higher than in the renal medulla during cortical and medullary phase but lower than in normal renal medulla during the delayed phase. CDC tumor enhancement was lower than that for normal renal medulla during all enhanced phases. Conclusion: Both tumor types originated from the renal medulla. Distinguishing features included density on unenhanced CT, enhancement patterns, and capsule signs. Identifying these differences may aid diagnosis.

Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.

Science.gov (United States)

Vélez-Cruz, Renier; Zadorin, Anton S; Coin, Frédéric; Egly, Jean-Marc

2013-01-15

Specific mutations in the XPD subunit of transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder characterized at the cellular level by a transcriptional arrest following UV irradiation. This transcriptional arrest has always been thought to be the result of faulty transcription-coupled repair. In the present study, we showed that, following UV irradiation, XP-D/CS cells displayed a gross transcriptional dysregulation compared with "pure" XP-D cells or WT cells. Furthermore, global RNA-sequencing analysis showed that XP-D/CS cells repressed the majority of genes after UV, whereas pure XP-D cells did not. By using housekeeping genes as a model, we demonstrated that XP-D/CS cells were unable to reassemble these gene promoters and thus to restart transcription after UV irradiation. Furthermore, we found that the repression of these promoters in XP-D/CS cells was not a simple consequence of deficient repair but rather an active heterochromatinization process mediated by the histone deacetylase Sirt1. Indeed, RNA-sequencing analysis showed that inhibition of and/or silencing of Sirt1 changed the chromatin environment at these promoters and restored the transcription of a large portion of the repressed genes in XP-D/CS cells after UV irradiation. Our work demonstrates that a significant part of the transcriptional arrest displayed by XP-D/CS cells arises as a result of an active repression process and not simply as a result of a DNA repair deficiency. This dysregulation of Sirt1 function that results in transcriptional repression may be the cause of various severe clinical features in patients with XP-D/CS that cannot be explained by a DNA repair defect.

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

Science.gov (United States)

Toutain, A; Ronce, N; Dessay, B; Robb, L; Francannet, C; Le Merrer, M; Briard, M L; Kaplan, J; Moraine, C

1997-02-01

Nance-Horan syndrome (NHS) is an X-linked disease characterized by severe congenital cataract with microcornea, distinctive dental findings, evocative facial features and mental impairment in some cases. Previous linkage studies have placed the NHS gene in a large region from DXS143 (Xp22.31) to DXS451 (Xp22.13). To refine this localization further, we have performed linkage analysis in four families. As the maximum expected Lod score is reached in each family for several markers in the Xp22.31-p22.13 region and linkage to the rest of the X chromosome can be excluded, our study shows that NHS is a genetically homogeneous condition. An overall maximum two-point Lod score of 9.36 (theta = 0.00) is obtained with two closely linked markers taken together. DXS207 and DXS1053 in Xp22.2. Recombinant haplotypes indicate that the NHS gene lies between DXS85 and DXS1226. Multipoint analysis yield a maximum Lod score of 9.45 with the support interval spanning a 15-cM region that includes DXS16 and DXS1229/365. The deletion map of the Xp22.3-Xp21.3 region suggests that the phenotypic variability of NHS is not related to gross rearrangement of sequences of varying size but rather to allelic mutations in a single gene, presumably located proximal to DXS16 and distal to DXS1226. Comparison with the map position of the mouse Xcat mutation supports the location of the NHS gene between the GRPR and PDHA1 genes in Xp22.2.

Expressing complementarity and the x-p commutation relation through further quantum inequalities

International Nuclear Information System (INIS)

Alvarez-Estrada, Ramon F

2010-01-01

Complementarity and the commutation relation of position (x) and momentum (p) imply much more than the fundamental x-p uncertainty inequality. Here, we display some further consequences of the former that could have certain pedagogical interest and, so, contribute to the teaching of quantum mechanics. Inspired by an elementary derivation of the x-p uncertainty inequality, based upon a positive quadratic polynomial, we explore one possible extension, via quartic polynomials and simple algebra and integrations. Our analysis, aimed at providing some further pedagogic expression of genuine quantum behaviours, yields other quantum inequalities for expectation values, expressed through suitable discriminants associated with quartic algebraic equations, which differ from (and are not a strict consequence of) the x-p uncertainty inequality. Those quantum inequalities are confirmed, and genuine non-classical behaviours are exhibited, for simple cases: a harmonic oscillator, a hydrogenic atom and free Gaussian wave packets. The physical interest of the expectation values involved in the quantum inequalities and of the latter is discussed, in the framework of quantum optics and squeezing phenomena.

Microsoft Windows Xp. El último neonato de Microsoft

Directory of Open Access Journals (Sweden)

Francisco Ficarra

2015-01-01

Full Text Available Se estrena una nueva era de la informática con la llegada del Windows XP, mas al mismo tiempo se pronostica que eclosionará en el primer quinquenio de este siglo. Se afirma que sin embargo los sistemas operativos seguirán siendo los pilares fundamentales de esta nueva época.

Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

Directory of Open Access Journals (Sweden)

Karina Miranda Santiago

2015-04-01

Full Text Available Xeroderma pigmentosum (XP is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening.

Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.

Science.gov (United States)

Santiago, Karina Miranda; França de Nóbrega, Amanda; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria Isabel

2015-04-22

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening.

Minimum detectable activities for natural radionuclides for IRIS-XP airborne gamma-spectrometer

International Nuclear Information System (INIS)

Ohera, Marcel; Sladek, Petr

2009-01-01

To subtract the 90 Sr background in the helicopter (the 90 Sr source is used as a freezing deposit indicator in Mi-17 helicopters), a spectrum at the altitude of more than 500 metre altitude above the ground for 10 minutes was acquired. The spectra at 50, 100 and 150 m altitude were corrected for the aircraft and the cosmics, stripping and height attenuation in K, U and Th peak windows. For IRIS-XP, better results have been obtained than presented so far. The new calculated minimum detectable activities (MDAs) are 114 Bq/kg for 40 K, 16 Bq/kg for 238 U and 8 Bq/kg for 232 Th at 95% confidence interval for 1 second spectra at 100 m altitude. This work deals with counting statistics and the estimate of the MDAs for natural radionuclides for the IRIS-XP airborne gamma-ray spectrometer (4 x 4 litre NaI(Tl)) produced by PICO Envirotec, Inc. in Toronto, Canada. The detection sensitivities (MDA) for 4 x 4 NaI(Tl) crystals at the altitude of 90 m presented by Pico Envirotec, Inc. are too high compared with the detection sensitivities presented by other airborne gamma-ray spectrometer producers. This was the reason why to calculate and verify the MDA for IRIS-XP. Firstly, the minimum detectable activities for IRIS-XP for 4 x 4 litre NaI(Tl) crystals were determined based on the data acquired on the calibration pads at the Holland Landing Airport in Toronto, Canada to test the method of calculation used. This method on calibration pads provides all available window sensitivities, stripping factors and counts in the natural radionuclide windows to verify the computing method. Secondly, the MDAs under the real flight conditions were also estimated for the IRIS-XP (4 x 4 litre NaI(Tl) crystals) which was delivered to the Czech Armed Forces. The MDAs were calculated based on the data acquired during the tests at the Military Training Area in Vyskov, Czech Republic. The data was collected at three different altitudes (50 m, 100 m and 150 m) when the Mi-17 helicopter with IRIS-XP

Development of a GeXP-multiplex PCR assay for the simultaneous detection and differentiation of six cattle viruses.

Directory of Open Access Journals (Sweden)

Qing Fan

Full Text Available Foot-and-mouth disease virus (FMDV, Bluetongue virus (BTV, Vesicular stomatitis Virus (VSV, Bovine viral diarrheal (BVDV, Bovine rotavirus (BRV, and Bovine herpesvirus 1 (IBRV are common cattle infectious viruses that cause a great economic loss every year in many parts of the world. A rapid and high-throughput GenomeLab Gene Expression Profiler (GeXP analyzer-based multiplex PCR assay was developed for the simultaneous detection and differentiation of these six cattle viruses. Six pairs of chimeric primers consisting of both the gene-specific primer and a universal primer were designed and used for amplification. Then capillary electrophoresis was used to separate the fluorescent labeled PCR products according to the amplicons size. The specificity of GeXP-multiplex PCR assay was examined with samples of the single template and mixed template of six viruses. The sensitivity was evaluated using the GeXP-multiplex PCR assay on serial 10-fold dilutions of ssRNAs obtained via in vitro transcription. To further evaluate the reliability, 305 clinical samples were tested by the GeXP-multiplex PCR assay. The results showed that the corresponding virus specific fragments of genes were amplified. The detection limit of the GeXP-multiplex PCR assay was 100 copies/μL in a mixed sample of ssRNAs containing target genes of six different cattle viruses, whereas the detection limit for the Gexp-mono PCR assay for a single target gene was 10 copies/μL. In detection of viruses in 305 clinical samples, the results of GeXP were consistent with simplex real-time PCR. Analysis of positive samples by sequencing demonstrated that the GeXP-multiplex PCR assay had no false positive samples of nonspecific amplification. In conclusion, this GeXP-multiplex PCR assay is a high throughput, specific, sensitive, rapid and simple method for the detection and differentiation of six cattle viruses. It is an effective tool that can be applied for the rapid differential diagnosis

Linearity measurement of the XP 1210 fast photomultiplier tube

International Nuclear Information System (INIS)

Breuze, G.; Sawine, P.

1969-01-01

A new X Y method of photomultipliers linearity measurement has been tested which is more suitable for fast photomultiplier tubes. The XP 1210 gives a linearity limit of 70 mA for the gain 10, i.e. 3.5 V for a 50 Ω charge impedance

Xp21 contiguous gene syndromes: Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints

Energy Technology Data Exchange (ETDEWEB)

McCabe, E.R.B.; Towbin, J.A. (Baylor College of Medicine, Houston, TX (United States)); Engh, G. van den; Trask, B.J. (Lawrence Livermore National Lab., CA (United States))

1992-12-01

Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for the genomic map in Xp21. The bivariate flow karyotype results were compared with clinical and molecular genetic information on the extent of the patients' deletions, and these various types of data were consistent. The resulting map spans >15 Mb, from the telomeric interval between DXS41 (99-6) and DXS68 (1-4) to a position centromeric to the ornithine transcarbamylase locus. The deletion sizing was considered to be accurate to [plus minus]1 Mb. The map provides information on the relative localization of genes and markers within this region. For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7). Information of this type is useful in developing genomic strategies for positional cloning in Xp21. These investigations demonstrate that the DNA from patients with Xp21 contiguous gene syndromes can be valuable reagents, not only for ordering loci and markers but also for providing an approximate scale to the map of the Xp21 region surrounding DMD. 44 refs., 3 figs.

Host-cell reactivation of UV-irradiated and chemically-treated herpes simplex virus-1 by xeroderma pigmentosum, xp heterozygotes and normal skin fibroblasts

International Nuclear Information System (INIS)

Selsky, C.A.

1978-01-01

The host-cell reactivation of UV-irradiated and N-acetoxy-2-acetylamino-fluorene-treated herpes simplex virus type 1 strain MP was studied in normal and xeroderma pigmentosum human skin fibroblasts. Virus treated with either agent demonstrated lower survival in XP cells from complementation groups A, B, C and D than in normal fibroblasts. The relative reactivation ability of XP cells from the different genetic complementation groups was found to be the same for both irradiated and chemically treated virus. In addition, the inactivation kinetics for virus treated with either agent in the XP variant were comparable to that seen in normal skin fibroblasts. The addition of 2 or 4 mmoles caffeine to the post-infection assay medium had no effect on the inactivation kinetics of virus treated by either agent in the XP variant or in XP cells from the different genetic complementation groups. Treatment of the virus with nitrogen mustard resulted in equivalent survival in normal and XP genetic complementation group D cells. No apparent defect was observed in the ability of XP heterozygous skin fibroblasts to repair virus damaged with up to 100 μg N-acetoxy-2-acetylaminofluorene per ml. These findings indicate that the repair of UV-irradiated and N-acetoxy-2-acetylaminofluorene-treated virus is accomplished by the same pathway or different pathways sharing a common intermediate step and that the excision defect of XP cells plays little if any role in the reactivation of nitrogen mustard treated virus. (Auth.)

Co-occurrence of Xp21 microduplication encompassing the DMD ...

African Journals Online (AJOL)

Defects in the DMD gene (deletion, duplication, or mutation) are associated with Duchenne and Becker muscular dystrophies (DMD and BMD). Combined microduplications of Xp21/DMD with 17p12/PMP22 are extremely rare with only one published report of a male patient with changes in both the DMD and PMP22 genes.

Cytological evidence for DNA chain elongation after UV irradiation in the S phase

International Nuclear Information System (INIS)

Minka, D.F.; Nath, J.

1981-01-01

Human cells irradiated with UV light synthesize lower molecular weight DNA than unirradiated cells. This reduction in molecular weight is greater in xeroderma pigmentosum (XP) cells than in normal cells. The molecular weight of DNA is further reduced by the addition of caffeine to XP cells. By several hours after irradiation, DNA fragments are barely detectable. Cells from excision-proficient and excision-deficient XP patients were studied autoradiographically to produce cytological evidence of DNA chain elongation. Replicate cultures with and without caffeine were synchronized and irradiated with UV light during the S phase. Caffeine was removed in G2, and the cells were labeled with 3 H-thymidine. Results showed significantly increased labeling during G2 of excision-deficient XP cells. Labeling was dependent on the time of irradiation and presence of caffeine. The XP variant cells had no increase in labeling for any irradiation time

Efficacy of XP-endo Finisher File in Removing Calcium Hydroxide from Simulated Internal Resorption Cavity.

Science.gov (United States)

Keskin, Cangül; Sariyilmaz, Evren; Sariyilmaz, Öznur

2017-01-01

The aim of this study was to evaluate the effect of supplementary use of XP-endo Finisher file, passive ultrasonic activation (PUI), EndoActivator (EA), and CanalBrush (CB) on the removal of calcium hydroxide (CH) paste from simulated internal resorption cavities. The root canals of 110 extracted single-rooted teeth with straight canals were prepared up to size 50. The specimens were split longitudinally, and standardized internal resorption cavities were prepared with burs. The cavities and root canals were filled with CH paste. The specimens were divided into 5 groups as follows: XP-endo Finisher, EA, PUI, CB, and syringe irrigation (SI). The root canals were irrigated with 5.25% NaOCl and 17% EDTA for 2 minutes, respectively. Apart from the SI group, both solutions were activated by using tested techniques for 1 minute. The quantity of CH remnants on resorption cavities was scored. Data were analyzed by using Kruskal-Wallis H and Mann-Whitney U tests. XP-endo Finisher and PUI removed significantly more CH than SI, EA, and CB (P  .05). Differences among SI, EA, and CB were also non-significant (P > .05). None of the tested techniques render the simulated internal resorption cavities free of CH debris. XP-endo Finisher and PUI were superior to SI, CB, and EA. Copyright © 2016 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Ion feedback afterpulses in FEU-130 and XP2020 photomultipliers

International Nuclear Information System (INIS)

Brudanin, V.B.; Morozov, V.A.; Morozova, N.V.

2003-01-01

Intensities and time distributions of ion feedback afterpulses are studied as a function of the difference of potentials between the photocathode and the first dynodes in FEU-130. The intensities and amplitudes of afterpulses in FEU-130 are found to be appreciably larger than in XP2020, which may limit the use of FEU-130 in some experiments with autocorrelation delayed-coincidence spectrometers

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Science.gov (United States)

Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria

2017-07-03

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes. Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19), detected by array-based comparative genomic hybridization in an Italian boy with NHS syndrome. The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with NSH syndrome and developmental delay. We compare our case with the previous Xp22.13 microdeletions and discuss the possible pathogenetic role of the flanking genes. Birth Defects Research 109:866-868, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

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Anwaar Ahmad

2010-03-01

Full Text Available Xeroderma pigmentosum (XP is caused by defects in the nucleotide excision repair (NER pathway. NER removes helix-distorting DNA lesions, such as UV-induced photodimers, from the genome. Patients suffering from XP exhibit exquisite sun sensitivity, high incidence of skin cancer, and in some cases neurodegeneration. The severity of XP varies tremendously depending upon which NER gene is mutated and how severely the mutation affects DNA repair capacity. XPF-ERCC1 is a structure-specific endonuclease essential for incising the damaged strand of DNA in NER. Missense mutations in XPF can result not only in XP, but also XPF-ERCC1 (XFE progeroid syndrome, a disease of accelerated aging. In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P were compared to an XP-causing mutation (XPF(R799W in vitro and in vivo. Recombinant XPF harboring either mutation was purified in a complex with ERCC1 and tested for its ability to incise a stem-loop structure in vitro. Both mutant complexes nicked the substrate indicating that neither mutation obviates catalytic activity of the nuclease. Surprisingly, differential immunostaining and fractionation of cells from an XFE progeroid patient revealed that XPF-ERCC1 is abundant in the cytoplasm. This was confirmed by fluorescent detection of XPF(R153P-YFP expressed in Xpf mutant cells. In addition, microinjection of XPF(R153P-ERCC1 into the nucleus of XPF-deficient human cells restored nucleotide excision repair of UV-induced DNA damage. Intriguingly, in all XPF mutant cell lines examined, XPF-ERCC1 was detected in the cytoplasm of a fraction of cells. This demonstrates that at least part of the DNA repair defect and symptoms associated with mutations in XPF are due to mislocalization of XPF-ERCC1 into the cytoplasm of cells, likely due to protein misfolding. Analysis of these patient cells therefore reveals a novel mechanism to potentially

Comparative Analysis Of The Development Of Swarming Communities Of Bacillus Subtilis In Case Of Pta And ComXP Mutant Strains

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Kassem Hamze

2015-08-01

Full Text Available Abstract Swarming Experiments were carried on with Bacillus subtilis strains to identify the activity of certain genes in the swarming ability and surfactin production. We will examine the effect of comXP as well as pta mutations on the capability of swarming. In different experiments we showed that strain OMG 903 that carries mutation in comXP managed to produce surfactin but showed attenuated defective and random swarming pattern strain OMG 928 that carries mutation in pta gene managed to produce surfactin and showed normal swarming pattern meanwhile double mutation in comXP and pta in strain OMG 929 lead to the absence of surfactin production and didnt manage Thesetoswarmdatashowed. that a threshold of surfactin production is necessary for a normal swarming pattern.

An approach to SOA development methodology: SOUP comparison with RUP and XP

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Sandra Svanidzaitė

2014-08-01

Full Text Available Service oriented architecture (SOA is an architecture for distributed applications composed of distributed services with weak coupling that are designed to meet business requirements. One of the research priorities in the field of SOA is creating such software design and development methodology (SDDM that takes into account all principles of this architecture and allows for effective and efficient application development. A lot of investigation has been carried out to find out whether can one of popular SDDM, such as agile methodologies or RUP suits, be adapted for SOA or there is a need to create some new SOA-oriented SDDM. This paper compares one of SOA-oriented SDDM – SOUP – with RUP and XP methodologies. The aim is to find out whether the SOUP methodology is already mature enough to assure successful development of SOA applications. This aim is accomplished by comparing activities, artifacts of SOUP and RUP and emphasizing which XP practices are used in SOUP.DOI: http://dx.doi.org/10.15181/csat.v2i1.77 

Report: Passaic Valley Sewerage Commissioners – Unallowable Costs Claimed Under EPA Grant XP98237601

Science.gov (United States)

Report #08-2-0226, August 6, 2008. The grantee claimed $2,385,634 for pre-award costs under Grant XP98237601 that were incurred prior to the grant award and thus were unallowable under the grant administrative conditions and OMB Circular A-87.

MS Windows domēna darbstaciju migrācija no MS Windows XP uz Windows Vista.

OpenAIRE

Tetere, Agate

2009-01-01

Kvalifikācijas darbā izpētīju darbstaciju migrācijas no Windows XP uz Windows Vista plusus un mīnusus. Darba gaitā tika veikti sekojoši uzdevumi: 1.Veikta Windows XP un Windows Vista darbstaciju instalācija, iestatījumu konfigurēšana un tika pārbaudīta sistēmas darbība 2.Veikta Windows Server 2003 un Windows Server 2008 instalācija, iestatījumu konfigurēšana un tika pārbaudīta sistēmas darbība 3.Izstrādāts migrācijas modelis 4.Veikta migrācijas optimizēšana 5.Veikta datu migrāc...

Development of a YAC contig covering the minimal region of a CSNB1 locus in Xp11

Energy Technology Data Exchange (ETDEWEB)

Boycott, K.M.; Gratton, K.J.; Moore, B.J. [Univ. of Calgary (Canada)] [and others

1994-09-01

X-linked congenital stationary night blindness (CSNB1) is an eye disorder that includes impairment of night vision, reduced visual acuity and, in some cases, myopia and congenital nystagmus. Electroretinography reveals a marked reduction of the b-wave in affected individuals suggesting that X-linked CSNB is due to a molecular defect in the bipolar layer of the retina. Based on our studies of a large four generation family with X-linked CSNB, a CSNB1 locus was mapped to a 4-5 cM region at Xp11.23-Xp11.22 bounded telomerically by DXS426 and centromerically by DXS988. Using a panel of radiation and conventional somatic cell hybrids, a detailed map of new and published STSs has been generated for the minimal region of CSNB1. PCR primer pairs for STSs has been generated for the minimal region of CSNB1. PCR primer pairs for twenty-five STSs, including eleven end-clones, were used to isolate YAC clones from CEPH, mega-CEPH, and X chromosome-specific YAC libraries. In total, fifty-two YACs were characterized for STS overlaps and assembled to provide a minimum of 3 Mb of physical coverage in the region between DXS426 and DXS988. Five gaps proximal to SYP are still to be closed. Our physical map suggests the following gene order: Xpter-OTAL1-GF1-DXS1011E-MG81-HUMCRAS2P-SYP-Xcen. STS analysis of the YACs revealed three subregions of the physical map which appear to be particularly susceptible to internal deletions and end-clone analysis demonstrated chimerism in six of seventeen YACs. A physical map of Xp11.23-Xp11.22 will provide a resource for the isolation of candidate genes for the X-linked CSNB gene which maps to this region.

Windows XP ends its life at CERN – register for Windows 7 training!

CERN Multimedia

Michał Kwiatek (IT-OIS)

2012-01-01

Windows XP has been around for over 10 years and it is now time to move on. At CERN, general support for Windows XP will end in December 2012, and before this date users are requested to schedule a migration to the next version of Windows – Windows 7.   Windows 7 is already well established at CERN – it is used by a large majority of users. In fact, there was a considerable user demand even before its official release in October 2009 and its adoption has been smooth. Users praise Windows 7 for its improved stability and a clear advantage on laptops is a much more efficient implementation of offline files. The migration to Windows 7 involves a reinstallation of the operating system. Files stored in user home folders on DFS will be immediately available after the reinstallation. Applications will be upgraded to more recent versions and in certain cases, an application may even be replaced by another application providing the same functionality. Microsoft Office suite is a good ...

H2XP:OH2 Complexes: Hydrogen vs. Pnicogen Bonds

Directory of Open Access Journals (Sweden)

Ibon Alkorta

2016-02-01

Full Text Available A search of the Cambridge Structural Database (CSD was carried out for phosphine-water and arsine-water complexes in which water is either the proton donor in hydrogen-bonded complexes, or the electron-pair donor in pnicogen-bonded complexes. The range of experimental P-O distances in the phosphine complexes is consistent with the results of ab initio MP2/aug’-cc-pVTZ calculations carried out on complexes H2XP:OH2, for X = NC, F, Cl, CN, OH, CCH, H, and CH3. Only hydrogen-bonded complexes are found on the H2(CH3P:HOH and H3P:HOH potential surfaces, while only pnicogen-bonded complexes exist on H2(NCP:OH2, H2FP:OH2, H2(CNP:OH2, and H2(OHP:OH2 surfaces. Both hydrogen-bonded and pnicogen-bonded complexes are found on the H2ClP:OH2 and H2(CCHP:OH2 surfaces, with the pnicogen-bonded complexes more stable than the corresponding hydrogen-bonded complexes. The more electronegative substituents prefer to form pnicogen-bonded complexes, while the more electropositive substituents form hydrogen-bonded complexes. The H2XP:OH2 complexes are characterized in terms of their structures, binding energies, charge-transfer energies, and spin-spin coupling constants 2hJ(O-P, 1hJ(H-P, and 1J(O-H across hydrogen bonds, and 1pJ(P-O across pnicogen bonds.

Remarks concerning two sympatric seedeaters Poliospiza spp. in ...

African Journals Online (AJOL)

Turner, D.A., Finch, B.F, & Hunter, N.D. Remarks concerning the all-black coastal boubous. (Laniarius ... Currently, however, there is little evidence to support such a theory, and it is .... twigs with its beak in order to increase the size of the hole.

Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

Science.gov (United States)

Orivoli, Sonia; Pavlidis, Elena; Cantalupo, Gaetano; Pezzella, Marianna; Zara, Federico; Garavelli, Livia; Pisani, Francesco; Piccolo, Benedetta

2016-01-01

Xp11.22 microduplications have been reported in different patients with X-linked intellectual disability. Comparing the duplicated segments, a minimum region of overlap has been identified. Within this region, only one gene, the HUWE1 gene, coding the E3 ubiquitin protein ligase, turned out to be duplicated in all previously described patients. We provide a review of the literature on this topic, making a comparison not only of genetic aspects, but also of clinical, neurophysiological, and neuroradiological findings. Furthermore, we describe the phenotypic and molecular characterization of a case of intellectual disability in a child carrying one of the smallest Xp11.22 microduplications reported, involving the whole sequence of HUWE1 gene. Unlike previously described cases, our patient's neuroimaging showed abnormal findings; he also experienced one seizure and showed interictal electroencephalogram (EEG) epileptiform abnormalities. Given the fact that HUWE1 duplications and mutations have previously been described in several patients with X-linked cognitive impairment, our findings support the hypothesis that HUWE1 gene might be implicate in the pathogenesis of intellectual disability. Nevertheless, further investigations and a more detailed examination of patients' clinical history are needed to clear up other eventual genotype-phenotype correlations, such as the presence of epilepsy/epileptiform EEG abnormalities. Georg Thieme Verlag KG Stuttgart · New York.

Torsional resistance of XP-endo Shaper at body temperature compared with several nickel-titanium rotary instruments.

Science.gov (United States)

Elnaghy, A M; Elsaka, S E

2018-05-01

To compare the torsional resistance of XP-endo Shaper (XPS; size 30, .01 taper, FKG Dentaire, La Chaux-de-Fonds, Switzerland) instruments at body temperature with TRUShape (TRS; size 30, .06 taper, Dentsply Tulsa Dental Specialties, Tulsa, OK, USA), ProFile Vortex (PV; size 30, .04 taper, Dentsply Tulsa Dental Specialties) and FlexMaster (FM; size 30, .04 taper, VDW GmbH, Munich, Germany) nickel-titanium rotary instruments. A metal block with a square-shaped mould (5 mm × 5 mm × 5 mm) was positioned inside a glass container. Five millimetres of the tip of each instrument was held inside the metal block by filling the mould with a resin composite. The instruments were tested for torsional resistance in saline solution at 37 °C. Data were analysed using one-way analysis of variance (anova) and Tukey post hoc tests. The significance level was set at P instruments tested (P instruments (P = 0.211). The ranking for torsional resistance values was: FM > PV > TRS > XPS. FlexMaster and ProFile Vortex instruments were more resistant to torsional stress compared with TRUShape and XP-endo Shaper instruments. The manufacturing process used to produce XP-endo Shaper instruments did not enhance their resistance to torsional stress as compared with the other instruments. © 2017 International Endodontic Journal. Published by John Wiley & Sons Ltd.

Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients

Energy Technology Data Exchange (ETDEWEB)

Chen, Xiao; Zhou, Hao; Duan, Na; Liu, Yongkang; Wang, Zhongqiu [Affiliated Hospital of Nanjing University of Chinese Medicine, Department of Radiology, Nanjing (China); Zhu, Qingqiang [Medical School of Yangzhou University, Department of Medical Imaging, Subei People' s Hospital, Yangzhou (China); Li, Baoxin [Gulou Hospital, Department of Radiology, Nanjing (China); Cui, Wenjing [Affiliated Hospital of Nanjing University of Chinese Medicine, Department of Radiology, Nanjing (China); Nanjing University Medical School, Department of Radiology, Jinling Hospital, Nanjing (China); Kundra, Vikas [The University of Texas, M.D. Anderson Cancer Center, Department of Radiology, Houston, TX (United States)

2017-02-15

To characterize imaging features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE gene fusion. Twenty-one patients with Xp11.2/TFE RCC were retrospectively evaluated. Tumour location, size, density, cystic or solid appearance, calcification, capsule sign, enhancement pattern and metastases were assessed. Fourteen women and seven men were identified with 12 being 25 years old or younger. Tumours were solitary and cystic-solid (76.2 %) masses with a capsule (76.2 %); 90.5 % were located in the medulla. Calcifications and lymph node metastases were each observed in 24 %. On unenhanced CT, tumour attenuation was greater than in normal renal parenchyma (85.7 %). Tumour enhancement was less than in normal renal cortex on all enhanced phases, greater than in normal renal medulla on cortical and medullary phases, but less than in normal renal medulla on delayed phase. On MR, the tumours were isointense on T1WI, heterogeneously hypointense on T2WI and slightly hyperintense on diffusion-weighted imaging. Xp11.2/TFE RCC usually occurs in young women. It is a cystic-solid, hyperdense mass with a capsule. It arises from the renal medulla with enhancement less than in the cortex but greater than in the medulla in all phases except the delayed phase, when it is lower than in the medulla. (orig.)

Detection of explosive atmospheres using the software AtmosXp V 2.0

Directory of Open Access Journals (Sweden)

Carlos Mauricio Álvarez Álvarez

2014-01-01

Full Text Available Las condiciones de atmósferas explosivas y acumulación de gases dentro de las minas subterráneas de carbón requieren un anális is detallado y el desarrollo de modelos y mecanismos que permitan su detección. Para tal fin se ha desarrollado el software Atmos Xp V2.0 que incluye el diagrama de Coward para el análisis de estas mez clas explosivas.

Remarkable long-range-systematic in the binding energies of α-nuclei. II

International Nuclear Information System (INIS)

Gross, D.H.E.

2003-01-01

In this Letter I present further data that show the remarkable evidence for the existence of an α-cluster structure in the ground states of even-even N=Z nuclei. Such a remarkable systematic was observed 20 years ago Gross and Nemes [Phys. Lett. B 130 (1983) 131] for these nuclei at A≤72 and is extended here up to A=100

XP11.2 Translocation renal cell carcinoma: Clinical experience of Taipei Veterans General Hospital

Directory of Open Access Journals (Sweden)

Chia-Chen Hung

2011-11-01

Conclusion: Although RT-PCR and DNA sequencing are the final diagnoses of the molecular identity of Xp11.2 translocation RCC, experienced pathologists could confirm the histologic diagnosis based on the distinctive morphologic features with positive TFE3 immunochemical nuclear stain. Surgical resection is the only treatment. The role of systemic therapy for local recurrence and metastasis remains to be determined.

Verification of Bioanalytical Method for Quantification of Exogenous Insulin (Insulin Aspart) by the Analyser Advia Centaur® XP.

Science.gov (United States)

Mihailov, Rossen; Stoeva, Dilyana; Pencheva, Blagovesta; Pentchev, Eugeni

2018-03-01

In a number of cases the monitoring of patients with type I diabetes mellitus requires measurement of the exogenous insulin levels. For the purpose of a clinical investigation of the efficacy of a medical device for application of exogenous insulin aspart, a verification of the method for measurement of this synthetic analogue of the hormone was needed. The information in the available medical literature for the measurement of the different exogenous insulin analogs is insufficient. Thus, verification was required to be in compliance with the active standards in Republic of Bulgaria. A manufactured method developed for ADVIA Centaur XP Immunoassay, Siemens Healthcare, was used which we verified using standard solutions and a patient serum pool by adding the appropriate quantity exogenous insulin aspart. The method was verified in accordance with the bioanalytical method verification criteria and regulatory requirements for using a standard method: CLIA chemiluminescence immunoassay ADVIA Centaur® XP. The following parameters are determined and monitored: intra-day precision and accuracy, inter-day precision and accuracy, limit of detection and lower limit of quantification, linearity, analytical recovery. The routine application of the method for measurement of immunoreactive insulin using the analyzer ADVIA Centaur® XP is directed to the measurement of endogenous insulin. The method is applicable for measuring different types of exogenous insulin, including insulin aspart.

An investigation of the predictors of photoprotection and UVR dose to the face in patients with XP

DEFF Research Database (Denmark)

Walburn, Jessica; Sarkany, Robert; Norton, Sam

2017-01-01

INTRODUCTION: Xeroderma pigmentosum (XP) is a rare genetic condition caused by defective nucleotide excision repair and characterised by skin cancer, ocular and neurological involvement. Stringent ultraviolet protection is the only way to prevent skin cancer. Despite the risks, some patients...

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

Science.gov (United States)

Liao, Hsiao-Mei; Niu, Dau-Ming; Chen, Yan-Jang; Fang, Jye-Siung; Chen, Shih-Jen; Chen, Chia-Hsiang

2011-01-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of ∼ 0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

Energy Technology Data Exchange (ETDEWEB)

Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

1994-10-01

X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

Experimental investigations of atomic ordering effects in the epitaxial Ga{sub x}In{sub 1-x}P, coherently grown on GaAs (100) substrates

Energy Technology Data Exchange (ETDEWEB)

Seredin, P.V., E-mail: paul@phys.vsu.ru [Voronezh State University, Universitetskaya pl., 1, 394006 Voronezh (Russian Federation); Goloshchapov, D.L.; Khudyakov, Yu.Yu.; Lenshin, A.S.; Lukin, A.N. [Voronezh State University, Universitetskaya pl., 1, 394006 Voronezh (Russian Federation); Arsentyev, I.N., E-mail: arsentyev@mail.ioffe.ru [Ioffe Physical and Technical Institute, Polytekhnicheskaya, 26, 194021 St-Petersburg (Russian Federation); Prutskij, Tatiana, E-mail: prutskij@yahoo.com [Instituto de Ciencias, Benemérita Universidad Autónoma de Puebla, Privada 17 Norte, No 3417, Col San Miguel Hueyotlipan, 72050 Puebla, Puebla (Mexico)

2017-03-15

A range of structural and spectroscopic techniques were used for the study of the properties of epitaxial Ga{sub x}In{sub 1-x}P alloys with an ordered arrangement of atoms in a crystal lattice grown by MOCVD on single-crystalline substrates of GaAs (100). The appearance of atomic ordering in the coherent growth conditions of the ordered Ga{sub x}In{sub 1-x}P alloy on GaAs (100) resulted in cardinal changes of the structural and optical properties of semiconductor in comparison to disordered alloys, including the change of the crystal lattice parameter and, consequently, reduced crystal symmetry, decreased band gap and formation of two different types of surface nanorelief. This is the first report of the calculation of parameters of the crystal lattice in Ga{sub x}In{sub 1-x}P with ordering taking into account the elastic stresses dependent on long-range ordering. Based on the variance analysis data with regard to the IR-reflection spectra as well as the UV-spectroscopy data obtained in the transmission-reflection mode, the main optical characteristics of the ordered Ga{sub x}In{sub 1-x}P alloys were determined for the first time, namely, refractive index dispersion and high-frequency dielectric constant. All of the experimental results were in good agreement with the previously developed theoretical beliefs.

Opening remarks

International Nuclear Information System (INIS)

Kyd, D.R.

1993-11-01

In his opening remarks Mr. David R. Kyd briefly described the IAEA mission. Then he outlined main aim of the seminar which is bring together journalists, educators, officials and other specialists to let them hear and put questions to experts on various aspects of nuclear energy and techniques. Further he analyzed problems and prospects of energy development in Asia and particularly in China, including environmental considerations. The final part of the remarks was devoted comparative evaluation of different energy production technologies

A locus for isolated cataract on human Xp.

Science.gov (United States)

Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S

2002-02-01

To genetically map the gene causing isolated X linked cataract in a large European pedigree. Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing. The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036). This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

Science.gov (United States)

Toutain, Annick; Dessay, Benoît; Ronce, Nathalie; Ferrante, Maria-Immacolata; Tranchemontagne, Julie; Newbury-Ecob, Ruth; Wallgren-Pettersson, Carina; Burn, John; Kaplan, Josseline; Rossi, Annick; Russo, Silvia; Walpole, Ian; Hartsfield, James K; Oyen, Nina; Nemeth, Andrea; Bitoun, Pierre; Trump, Dorothy; Moraine, Claude; Franco, Brunella

2002-09-01

Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, dental abnormalities, dysmorphic features, and mental retardation in some cases. Previous studies have mapped the disease gene to a 2 cM interval on Xp22.2 between DXS43 and DXS999. We report additional linkage data resulting from the analysis of eleven independent NHS families. A maximum lod score of 9.94 (theta=0.00) was obtained at the RS1 locus and a recombination with locus DXS1195 on the telomeric side was observed in two families, thus refining the location of the gene to an interval of around 1 Mb on Xp22.13. Direct sequencing or SSCP analysis of the coding exons of five genes (SCML1, SCML2, STK9, RS1 and PPEF1), considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS.

Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma.

Science.gov (United States)

Pradhan, Dinesh; Roy, Somak; Quiroga-Garza, Gabriela; Cieply, Kathleen; Mahaffey, Alyssa L; Bastacky, Sheldon; Dhir, Rajiv; Parwani, Anil V

2015-09-29

Xp11.2 or TFE3 translocation renal cell carcinomas (RCC) and alveolar soft part sarcoma (ASPS) are characterized by chromosome translocations involving the Xp11.2 breakpoint resulting in transcription factor TFE3 gene fusions. The most common translocations documented in TFE3 RCCs are t(X;1) (p11.2;q21) and t(X;17) (p11.2;q25) which leads to fusion of TFE3 gene on Xp11.2 with PRCC or ASPL respectively. TFE3 immunohistochemistry (IHC) has been inconsistent over time due to background staining problems in part related to fixation issues. Karyotyping to detect TFE3 gene rearrangement requires typically unavailable fresh tissue. Reverse transcriptase-polymerase chain reaction (RT-PCR) is generally very challenging due to degradation of RNA in archival material. The study objective was to develop and validate a TFE3 break-apart fluorescence in situ hybridization (FISH) assay to confirm Xp11 translocation RCCs and ASPS. Representative sections of formalin-fixed paraffin-embedded tissue blocks were selected in 40 possible cases. Approximately 60 tumor cells were analyzed in the targeted region. The validation of TFE3 FISH was done with 11 negative and two positive cases. Cut off for a positive result was validated as >7.15 % positive nuclei with any pattern of break-apart signals. FISH evaluation was done blinded of the immunohistochemical or karyotype data. Three out of forty cases were positive for the TFE3 break-apart signals by FISH. The negative cases were reported as clear cell RCC with papillary features (10), clear cell RCC with sarcomatoid areas (2), Papillary RCC with clear cell areas (9), Chromophobe RCC (2), RCC, unclassified type (3) and renal medullary carcinoma (1). 3 of the negative cases were consultation cases for renal tumor with unknown histology. Seven negative cases were soft tissue tumor suspicious for ASPS. Our study validates the utility of TFE3 break-apart FISH on formalin-fixed paraffin-embedded tissue sections for diagnosis and confirmation of

Concluding theoretical remarks

International Nuclear Information System (INIS)

Ellis, J.

1986-01-01

My task in this talk is to review the happenings of this workshop from a theoretical perspective, and to emphasize lines for possible future research. My remarks are organized into a theoretical overview of the what, why, (mainly the hierarchy problem) how, (supersymmetry must be broken: softly or spontaneously, and if the latter, by means of a new U tilde(1) gauge group or through the chiral superfields) when (how heavy are supersymmetric partner particles in different types of theories) and where (can one find evidence for) supersymmetry. In the last part are discussed various ongoing and future searches for photinos γ tilde, gravitinos G tilde, the U vector boson, shiggses H tilde, squarks q tilde and sleptons l tilde, gluinos g tilde, winos W tilde and other gauginos, as well as hunts for indirect effects of supersymmetry, such as for example in baryon decay. Finally there is a little message of encouragement to our experimental colleagues, based on historical precedent. (orig.)

Cyclic fatigue resistance of XP-endo Shaper compared with different nickel-titanium alloy instruments.

Science.gov (United States)

Elnaghy, Amr; Elsaka, Shaymaa

2018-04-01

The aims of this study were to assess and compare the resistance to cyclic fatigue of XP-endo Shaper (XPS; FKG Dentaire, La Chaux-de-Fonds, Switzerland) instruments with TRUShape (TRS; Dentsply Tulsa Dental Specialties, Tulsa, OK, USA), HyFlex CM (HCM; Coltene, Cuyahoga Falls, OH, USA), Vortex Blue (VB; Dentsply Tulsa Dental Specialties), and iRace (iR; FKG Dentaire) nickel-titanium rotary instruments at body temperature. Size 30, 0.01 taper of XPS, size 30, 0.04 taper of HCM, VB, iR, and size 30, 0.06 taper of TRS instruments were immersed in saline at 37 ± 1 °C during cyclic fatigue testing. The instruments were tested with 60° angle of curvature and a 3-mm radius of curvature. The number of cycles to failure (NCF) was calculated and the length of the fractured segment was measured. Fractographic examination of the fractured surface was performed using a scanning electron microscope. The data were analyzed statistically using Kruskal-Wallis H test and Mann-Whitney U tests. Statistical significance was set at P ductile fracture of cyclic fatigue failure. XPS instruments exhibited greater cyclic fatigue resistance compared with the other tested instruments. XP-endo Shaper instruments could be used more safely in curved canals due to their higher fatigue resistance.

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

Science.gov (United States)

Montini, E; Andolfi, G; Caruso, A; Buchner, G; Walpole, S M; Mariani, M; Consalez, G; Trump, D; Ballabio, A; Franco, B

1998-08-01

Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in the Xp22 region, we have isolated and sequenced the full-length transcript of STK9, a novel cDNA highly homologous to serine-threonine kinases. A number of human genetic disorders have been mapped to the region where STK9 has been localized including Nance-Horan (NH) syndrome, oral-facial-digital syndrome type 1 (OFD1), and a novel locus for nonsyndromic sensorineural deafness (DFN6). To evaluate the possible involvement of STK9 in any of the above-mentioned disorders, a 2416-bp full-length cDNA was assembled. The entire genomic structure of the gene, which is composed of 20 coding exons, was determined. Northern analysis revealed a transcript larger than 9.5 kb in several tissues including brain, lung, and kidney. The mouse homologue (Stk9) was identified and mapped in the mouse in the region syntenic to human Xp. This location is compatible with the location of the Xcat mutant, which shows congenital cataracts very similar to those observed in NH patients. Sequence homologies, expression pattern, and mapping information in both human and mouse make STK9 a candidate gene for the above-mentioned disorders. Copyright 1998 Academic Press.

Optical properties and energy spectra of donors in Gasub(x)Insub(1-x)P

International Nuclear Information System (INIS)

Berndt, V.; Kopylov, A.A.; Pikhtin, A.N.

1977-01-01

Impurity optical absorption is studied in n-Gasub(x)Insub(1-x)P for compositions with indirect band structure. For the first time the photoionization bands of shallow donor centers have been observed in semiconductor solid solutions. Analysis of spectra has shown the electron transitions to excited states of donor to contribute considerably to absorption. A simple theoretical model is presented to explain the shift of ionization energy of silicon donor and the variation in shape of the impurity absorption band

A data acquisition system based on general VME system in WinXP

International Nuclear Information System (INIS)

Ning Zhe; Qian Sen; Wang Yifang; Heng Yuekun; Zhang Jiawei; Fu Zaiwei; Qi Ming; Zheng Yangheng

2010-01-01

The compilation and encapsulation of a general data acquisition system based on VME board in WinXP environment was developed using LabVIEW with graphics interface. By integrating the emulational instrument panel of LabVIEW and calling the Dynamic Link Libraries (DLLs) of crate controller, the VME modules were encapsulated into function modules independently, for convenience of use. The BLT, MBLT and CBLT readout modes for different VME boards were studied. The modules can be selected and modified easily according to the requirements of different tests. Finally, successful applications of the high resolution data acquisition software (DAQ) in several experiment environments are reported.(authors)

Computer Security: Bye, Bye, Windows XP security... Welcome infections!

CERN Multimedia

Computer Security Team

2014-01-01

Rest in peace, Windows XP. Since your birth on 25 October 2001, you have struggled hard to survive this harsh Internet world. You fell prey to “Melissa”, “Sasser” and “Conficker”, and brought CERN its last large-scale infection with “Blaster” in 2004.    After being upgraded to “SP2”, you discovered software development lifecycles, regular “Patch Tuesdays” and a local firewall that rejected everything by default. In the end, you outlived your weird brother “Vista” and survived as the ugly duckling cousin to the beautiful Mr. Mac. But all your ups and downs are over now. On 8 April 2014, you were given your very last security updates. These life-sustaining measures will be stopped now. Game over. From now on, you are a zombie: presumed dead, but still kept running by your master/owner/user. They might not even understand that you now pose a risk ...

Analysis of diffractive pd to Xd and pp to Xp interactions and test of the finite-mass sum rule

CERN Document Server

Akimov, Y; Golovanov, L B; Goulianos, K; Gross, D; Malamud, E; Melissinos, A C; Mukhin, S; Nitz, D; Olsen, S; Sticker, H; Tsarev, V A; Yamada, R; Zimmerman, P

1976-01-01

The first moment finite mass sum rule is tested by utilising cross- sections for pp to Xp extracted from recent Fermilab data on pd to Xd and also comparing with CERN ISR data. The dependences on M/sub x//sup 2/, t and s are also discussed. (11 refs).

Apical extrusion of debris during the preparation of oval root canals: a comparative study between a full-sequence SAF system and a rotary file system supplemented by XP-endo finisher file.

Science.gov (United States)

Kfir, Anda; Moza-Levi, Rotem; Herteanu, Moran; Weissman, Amir; Wigler, Ronald

2018-03-01

The purpose of this study was to assess the amount of apically extruded debris during the preparation of oval canals with either a rotary file system supplemented by the XP-endo Finisher file or a full-sequence self-adjusting file (SAF) system. Sixty mandibular incisors were randomly assigned to two groups: group A: stage 1-glide path preparation with Pre-SAF instruments. Stage 2-cleaning and shaping with SAF. Group B: stage 1-glide path preparation with ProGlider file. Stage 2-cleaning and shaping with ProTaper Next system. Stage 3-Final cleaning with XP-endo Finisher file. The debris extruded during each of the stages was collected, and the debris weights were compared between the groups and between the stages within the groups using t tests with a significance level set at P file followed by XP-endo Finisher file extruded significantly more debris than a full-sequence SAF system. Each stage, in either procedure, had its own contribution to the extrusion of debris. Final preparation with XP-endo Finisher file contributes to the total amount of extruded debris, but the clinical relevance of the relative difference in the amount of apically extruded debris remains unclear.

Substance P and Calcitonin gene-related peptide expression in human periodontal ligament after root canal preparation with Reciproc Blue, WaveOne Gold, XP EndoShaper and hand files.

Science.gov (United States)

Caviedes-Bucheli, J; Rios-Osorio, N; Rey-Rojas, M; Laguna-Rivero, F; Azuero-Holguin, M M; Diaz, L E; Curtidor, H; Castaneda-Ramirez, J J; Munoz, H R

2018-05-17

To quantify the Substance P (SP) and Calcitonin gene-related peptide (CGRP) expression in healthy human periodontal ligament from premolars after root canal preparation with Reciproc Blue, WaveOne Gold, XP EndoShaper and hand files. Fifty human periodontal ligament samples were obtained from healthy mandibular premolars where extraction was indicated for orthodontic reasons. Prior to extraction, 40 of these premolars were equally divided into four groups, and root canals were prepared using four different systems: Reciproc Blue, WaveOne Gold, XP EndoShaper, and a hand instrumentation technique. The remaining 10 healthy premolars were extracted without treatment and served as a negative control group. All periodontal ligament samples were processed, and SP and CGRP were measured by radioimmunoassay. The Kruskal-Wallis test was used to establish significant differences between groups and LSD post hoc comparisons were also performed. Greater SP and CGRP values were found in the hand instrumentation group, followed by the XP EndoShaper, WaveOne Gold and the Reciproc groups. The lower SP and CGRP values were for the healthy periodontal ligament group. The Kruskal-Wallis test revealed significant differences between groups (p 0.05). All the root canal preparation techniques tested increased SP and CGRP expression in human periodontal ligament, with hand files and XP EndoShaper instruments being associated with greater neuropeptide release compared to Reciproc Blue and WaveOne Gold files. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

The ClpXP protease is dispensable for degradation of unfolded proteins in Staphylococcus aureus

DEFF Research Database (Denmark)

Stahlhut, Steen G.; Alqarzaee, Abdulelah A.; Jensen, Camilla

2017-01-01

In living cells intracellular proteolysis is crucial for protein homeostasis, and ClpP proteases are conserved between eubacteria and the organelles of eukaryotic cells. In Staphylococcus aureus, ClpP associates to the substrate specificity factors, ClpX and ClpC forming two ClpP proteases, ClpXP...... cells, highly upregulated loci include the urease operon, the pyrimidine biosynthesis operon, the betA-betB operon, and the pathogenicity island, SaPI5, while virulence genes were dramatically down-regulated....

Concluding remarks

International Nuclear Information System (INIS)

Nariai, H.

2007-01-01

This document provides the speech presented by Hideki Nariai on May 2007 at the workshop on transparency of nuclear regulatory activities. It aims to propose concluding remarks concerning nuclear safety and the necessity to be transparent to the general public. (A.L.B.)

New process of preparation, X-ray characterisation, structure and vibrational studies of a solid solution LiTiOAs 1-xP xO 4 (0⩽ x⩽1)

Science.gov (United States)

Chakir, M.; El Jazouli, A.; Chaminade, J. P.; Bouree, F.; de Waal, D.

2006-01-01

LiTiOAs 1-xP xO 4 (0⩽ x⩽1) compounds have been prepared using solutions of Li, Ti, As and P elements as starting products. Selected compositions have been investigated by powder X-ray or neutrons diffraction analysis, Raman and infrared spectroscopy. The structure of LiTiOAs 1-xP xO 4 ( x=0, 0.5 and 1) samples determined by Rietveld analysis is orthorhombic with Pnma space group. It is formed by a 3D network of TiO 6 octahedra and XO 4 ( X=As 1-xP x) tetrahedra where octahedral cavities are occupied by lithium atoms. TiO 6 octahedra are linked together by corners and form infinite chains along a-axis. Ti atoms are displaced from the centre of octahedral units in alternating short (1.700-1.709 Å) and long (2.301-2.275 Å) Ti-O bonds. Raman and infrared studies confirm the existence of Ti-O-Ti chains. Thermal stability of LiTiOAsO 4 has been reported.

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

Science.gov (United States)

Pettenati, M J; Rao, P N; Weaver, R G; Thomas, I T; McMahan, M R

1993-03-01

We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.

Cutaneous metastases during an aggressive course of Xp11.2 translocation renal cell carcinoma in a teenager.

Science.gov (United States)

Sudour-Bonnange, Helene; Leroy, Xavier; Chauvet, Marie-Pierre; Classe, Marion; Robin, P M; Leblond, Pierre

2014-09-01

We reported a rare case of cutaneous metastases of renal cell carcinoma (RCC) with an Xp11.2 translocation in a 15-year-old female. Clinicians should be aware of the possibility of this uncommon site of metastasis, which can indicate multivisceral dissemination of the disease. We discuss the feasibility and opportunity of treating such a patient with multiple line of tyrosine kinase inhibitor (TKI) targeting vascular endothelial and platelet-derived growth factor receptors. © 2014 Wiley Periodicals, Inc.

CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

NARCIS (Netherlands)

Oosterwijk, JC; NELEN, M; VANZANDVOORT, PM; VANOSCH, LDM; ORANJE, AP; WITTEBOLPOST, D; VANOOST, BA

In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod

First-principle study of the electronic band structure and the effective mass of the ternary alloy GaxIn1-xP

Science.gov (United States)

Yang, H. Q.; Song, T. L.; Liang, X. X.; Zhao, G. J.

2015-01-01

In this work, the electronic band structure and the effective mass of the ternary alloy GaxIn1-xP are studied by the first principle calculations. The software QUANTUM ESPRESSO and the generalized gradient approximation (GGA) for the exchange correlations have been used in the calculations. We calculate the lattice parameter, band gap and effective mass of the ternary alloy GaxIn1-xP for the Ga composition x varying from 0.0 to 1.0 by the step of 0.125. The effect of the Ga composition on the lattice parameter and the electronic density of states are discussed. The results show that the lattice parameter varies with the composition almost linearly following the Vegard's law. A direct-to-indirect band-gap crossover is found to occur close to x = 0.7. The effective masses are also calculated at Γ(000) high symmetry point along the [100] direction. The results show that the band gap and the electron effective mass vary nonlinearly with composition x.

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.

Science.gov (United States)

Bragagnolo, Silvia; Colovati, Mileny E S; Guilherme, Roberta S; Dantas, Anelisa G; de Souza, Malú Zamariolli; de Soares, Maria F; Melaragno, Maria I; Perez, Ana B

2016-01-01

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such as epibulbar dermoid in the left eye, ear tags, and left microtia. Although on G-banding her karyotype appeared to be normal, chromosomal microarray analysis revealed an ∼13-Mb 4p16.3p15.33 deletion and an ∼9-Mb Xp22.33p22.31 duplication, resulting from a balanced maternal t(X;4)(p22.31;p15.33) translocation. The patient presented with functional Xp disomy due to an unbalanced X-autosome translocation, a rare cytogenetic finding in females with unbalanced rearrangements. Sequencing of both chromosome breakpoints detected no gene disruption. To the best of our knowledge, this is the first patient described in the literature with WHS and epibulbar dermoid, a typical characteristic of the oculoauriculovertebral spectrum (OAVS). Our data suggest that possible candidate genes for OAVS may have been deleted along with the WHS critical region. © 2016 S. Karger AG, Basel.

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

Science.gov (United States)

Lewis, R A; Nussbaum, R L; Stambolian, D

1990-01-01

The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

Concluding remarks

International Nuclear Information System (INIS)

Patrick, W.C.

1996-01-01

This section contains the concluding remarks of the workshop on rock mechanics issues in repository design and performance assessment. Technical issues such as spatial variability of rock properties, rock mass strength, measurement of loads, evaluation of long-term seal performance, and integration of data into design were discussed. Programmatic issues such as development of a coherent and consistent design methodology and implementation of that methodology were also reiterated

Theories of superconductivity (a few remarks)

International Nuclear Information System (INIS)

Ginzburg, V.L.

1992-01-01

The early history in the development of superconductivity. Idea of pairing, Schafroth and BCS types of theories. Some remarks on present state of the microscopical theory of high-temperature superconductors (HTSC). Mean field macroscopic theory of superconductivity and its specific features in HTSC. About generalized macroscopic theory applicable in critical region. Concluding remarks. (orig.)

Evidence that DNA excision-repair in xeroderma pigmentosum group A is limited but biologically significant

International Nuclear Information System (INIS)

Hull, D.R.; Kantor, G.J.

1983-01-01

The loss of pyrimidine dimers in nondividing populations of an excision-repair deficient xeroderma pigmentosum group. A strain (XP12BE) was measured throughout long periods (up to 5 months) following exposure to low doses of ultraviolet light (UV, 254 nm) using a UV endonuclease-alkaline sedimentation assay. Excision of about 90% of the dimers induced by 1 J/m 2 occurred during the first 50 days. The rate curve has some similarities with that of normal excision-repair proficient cultures that may not be coincidental. Rate curves for both XP12BE and normal cultures are characterized by a fast and slow component, with both rate constants for the XP12BE cultures (0.15 day -1 and 0.025 day -1 ) a factor of 10 smaller than those observed for the respective components of normal cell cultures. The slow components for both XP12BE and normal cultures extrapolate to about 30% of the initial number of dimers. No further excision was detected throughout an additional 90-day period even though the cultures were capable of excision-repair of other newly-introduced pyrimidine dimers. We conclude that nondividing XP12BE cells in addition to having a slower repair rate, cannot repair some of the UV-induced DNA damage. The repair in XP12BE is shown to have biological significance as detected by a cell-survival assay and dose-fractionation techniques. Nondividing XP12BE cells are more resistant to UV when irradiated chronically than when irradiated acutely with the same total dose. (orig.)

Epitaxial lateral overgrowth of Ga{sub x}In{sub 1-x}P toward direct Ga{sub x}In{sub 1-x}P/Si heterojunction

Energy Technology Data Exchange (ETDEWEB)

Omanakuttan, Giriprasanth; Stergiakis, Stamoulis; Sychugov, Ilya; Lourdudoss, Sebastian; Sun, Yan-Ting [Department of Materials and Nano Physics, School of Information and Communication Technology, Royal Institute of Technology-KTH, Kista (Sweden); Sahgal, Abhishek [Department of Materials and Nano Physics, School of Information and Communication Technology, Royal Institute of Technology-KTH, Kista (Sweden); Department of Physics, Indian Institute of Technology Delhi, New Delhi (India)

2017-03-15

The growth of GaInP by hydride vapor phase epitaxy (HVPE) was studied on planar GaAs, patterned GaAs for epitaxial lateral overgrowth (ELOG), and InP/Si seed templates for corrugated epitaxial lateral overgrowth (CELOG). First results on the growth of direct GaInP/Si heterojunction by CELOG is presented. The properties of Ga{sub x}In{sub (1-x)}P layer and their dependence on the process parameters were investigated by X-ray diffraction, including reciprocal lattice mapping (XRD-RLM), scanning electron microscopy equipped with energy-dispersive X-ray spectroscopy (SEM-EDS), photoluminescence (PL), and Raman spectroscopy. The fluctuation of Ga composition in the Ga{sub x}In{sub (1-x)}P layer was observed on planar substrate, and the strain caused by the composition variation is retained until relaxation occurs. Fully relaxed GaInP layers were obtained by ELOG and CELOG. Raman spectroscopy reveals that there is a certain amount of ordering in all of the layers except those grown at high temperatures. Orientation dependent Ga incorporation in the CELOG, but not in the ELOG Ga{sub x}In{sub (1-x)}P layer, and Si incorporation in the vicinity of direct Ga{sub x}In{sub (1-x)}P/Si heterojunction from CELOG are observed in the SEM-EDS analyses. The high optical quality of direct GaInP/Si heterojunction was observed by cross-sectional micro-PL mapping and the defect reduction effect of CELOG was revealed by high PL intensity in GaInP above Si. (copyright 2017 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim)

A Binaural CI Research Platform for Oticon Medical SP/XP Implants Enabling ITD/ILD and Variable Rate Processing

Science.gov (United States)

Adiloğlu, K.; Herzke, T.

2015-01-01

We present the first portable, binaural, real-time research platform compatible with Oticon Medical SP and XP generation cochlear implants. The platform consists of (a) a pair of behind-the-ear devices, each containing front and rear calibrated microphones, (b) a four-channel USB analog-to-digital converter, (c) real-time PC-based sound processing software called the Master Hearing Aid, and (d) USB-connected hardware and output coils capable of driving two implants simultaneously. The platform is capable of processing signals from the four microphones simultaneously and producing synchronized binaural cochlear implant outputs that drive two (bilaterally implanted) SP or XP implants. Both audio signal preprocessing algorithms (such as binaural beamforming) and novel binaural stimulation strategies (within the implant limitations) can be programmed by researchers. When the whole research platform is combined with Oticon Medical SP implants, interaural electrode timing can be controlled on individual electrodes to within ±1 µs and interaural electrode energy differences can be controlled to within ±2%. Hence, this new platform is particularly well suited to performing experiments related to interaural time differences in combination with interaural level differences in real-time. The platform also supports instantaneously variable stimulation rates and thereby enables investigations such as the effect of changing the stimulation rate on pitch perception. Because the processing can be changed on the fly, researchers can use this platform to study perceptual changes resulting from different processing strategies acutely. PMID:26721923

A Binaural CI Research Platform for Oticon Medical SP/XP Implants Enabling ITD/ILD and Variable Rate Processing.

Science.gov (United States)

Backus, B; Adiloğlu, K; Herzke, T

2015-12-30

We present the first portable, binaural, real-time research platform compatible with Oticon Medical SP and XP generation cochlear implants. The platform consists of (a) a pair of behind-the-ear devices, each containing front and rear calibrated microphones, (b) a four-channel USB analog-to-digital converter, (c) real-time PC-based sound processing software called the Master Hearing Aid, and (d) USB-connected hardware and output coils capable of driving two implants simultaneously. The platform is capable of processing signals from the four microphones simultaneously and producing synchronized binaural cochlear implant outputs that drive two (bilaterally implanted) SP or XP implants. Both audio signal preprocessing algorithms (such as binaural beamforming) and novel binaural stimulation strategies (within the implant limitations) can be programmed by researchers. When the whole research platform is combined with Oticon Medical SP implants, interaural electrode timing can be controlled on individual electrodes to within ±1 µs and interaural electrode energy differences can be controlled to within ±2%. Hence, this new platform is particularly well suited to performing experiments related to interaural time differences in combination with interaural level differences in real-time. The platform also supports instantaneously variable stimulation rates and thereby enables investigations such as the effect of changing the stimulation rate on pitch perception. Because the processing can be changed on the fly, researchers can use this platform to study perceptual changes resulting from different processing strategies acutely. © The Author(s) 2015.

Remarks on stellar clusters

International Nuclear Information System (INIS)

Teller, E.

1985-01-01

In the following, a few simple remarks on the evolution and properties of stellar clusters will be collected. In particular, globular clusters will be considered. Though details of such clusters are often not known, a few questions can be clarified with the help of primitive arguments. These are:- why are spherical clusters spherical, why do they have high densities, why do they consist of approximately a million stars, how may a black hole of great mass form within them, may they be the origin of gamma-ray bursts, may their invisible remnants account for the missing mass of our galaxy. The available data do not warrant a detailed evaluation. However, it is remarkable that exceedingly simple models can shed some light on the questions enumerated above. (author)

Linux vs : Windows - är Linux KDE möjlig ersättare till Microsoft Windows XP i en likvärdig konkurrenssituation sett ur ett användbarhetsperspektiv?

OpenAIRE

Wiberg, Björn; Gustavsson, Patrik

2005-01-01

Syfte Syftet med denna uppsats var att genomföra en kvalitativ undersökning kring om KDE kan ersätta Windows XP som användargränssnitt för normalanvändare på en persondator. Vi ville även ta fram de fördelar och nackdelar som KDE har i jämförelse med Windows XP, med eventuella förslag till förbättring. Metod Primärdata hämtades genom att testa operativsystemet på 25 personer som fick "tänka högt". Detta för att få en anblick om var det kan finnas problem. Även sekundärdata i form av litteratu...

Seven remarkable days

CERN Document Server

This has been a truly remarkable seven days for CERN. Things have moved so fast that it has sometimes been hard to separate fact from fiction – all the more so since facts have often seemed too good to be true. It’s been a week of many firsts. Monday was the first time we’ve had two captured beams in the LHC. It’s the first time the LHC has functioned as a particle accelerator, boosting particles to the highest beam energy so far achieved at CERN. And it’s been a week in which we’ve seen the highest energy proton-proton collisions ever produced at CERN: our last hadron collider, the SPS was a proton-antiproton collider, a technically simpler machine than the LHC. This week’s successes are all the more remarkable precisely because of the complexity of the LHC. Unlike the SPS collider, it is two accelerators not one, making the job of commissioning nearly twice as difficult. I’d like to express my heartfelt thanks and congra...

ERP System Evaluation on SOFI XP Based Accounting Module in Software House Industry

Directory of Open Access Journals (Sweden)

Shinta Mardallena

2015-09-01

Full Text Available Accounting module is an important module for a company business process. The roles are in the form of parameter calculation of profits, losses and financial performance based on transaction, which basically is a real-time reporting system. The amount of company needs on accounting indicates that the accounting is one of the resources which support the establishment of a company. Thus, the company constantly improves the accounting performance, especially in handling of receivables, debts, and cash transactions. Evaluations which were performed at SOFI XP-based ERP system aims to provide a solution to a problem that was discovered during the analysis of the system needs. This evaluation was done in two stages: by collecting data and analyzing the system that running in the company. By doing this evaluation, the documentation of system performance and the solution for problems that were found in the company can be generated.

Nationwide Genomic Study in Denmark Reveals Remarkable Population Homogeneity.

Science.gov (United States)

Athanasiadis, Georgios; Cheng, Jade Y; Vilhjálmsson, Bjarni J; Jørgensen, Frank G; Als, Thomas D; Le Hellard, Stephanie; Espeseth, Thomas; Sullivan, Patrick F; Hultman, Christina M; Kjærgaard, Peter C; Schierup, Mikkel H; Mailund, Thomas

2016-10-01

Denmark has played a substantial role in the history of Northern Europe. Through a nationwide scientific outreach initiative, we collected genetic and anthropometrical data from ∼800 high school students and used them to elucidate the genetic makeup of the Danish population, as well as to assess polygenic predictions of phenotypic traits in adolescents. We observed remarkable homogeneity across different geographic regions, although we could still detect weak signals of genetic structure reflecting the history of the country. Denmark presented genomic affinity with primarily neighboring countries with overall resemblance of decreasing weight from Britain, Sweden, Norway, Germany, and France. A Polish admixture signal was detected in Zealand and Funen, and our date estimates coincided with historical evidence of Wend settlements in the south of Denmark. We also observed considerably diverse demographic histories among Scandinavian countries, with Denmark having the smallest current effective population size compared to Norway and Sweden. Finally, we found that polygenic prediction of self-reported adolescent height in the population was remarkably accurate (R 2 = 0.639 ± 0.015). The high homogeneity of the Danish population could render population structure a lesser concern for the upcoming large-scale gene-mapping studies in the country. Copyright © 2016 by the Genetics Society of America.

Welcome remarks

International Nuclear Information System (INIS)

Zhao Hong

1993-01-01

In his opening remarks Mr. Zhao Hong stressed the importance of nuclear power for further economic development. He noticed that one of the main factors to obstruct the progress of nuclear energy is nuclear dread in public psychology and that enhancement of the public acceptance of nuclear power is an important task to promote the development of nuclear power. Than he described activities in China in public relation work in the field of nuclear energy. Importance of international cooperation on peaceful use of nuclear energy and supporting non-proliferation regime was stressed

Escaping the flybottle: solipsism and method in Wittgenstein's Philosophical Remarks

Directory of Open Access Journals (Sweden)

Jônadas Techio

2012-12-01

Full Text Available The paper supports a dialectical interpretation of Wittgenstein's method focusing on the analysis of the conditions of experience presented in his Philosophical Remarks. By means of a close reading of some key passages dealing with solipsism I will try to lay bare their self-subverting character: the fact that they amount to miniature dialectical exercises offering specific directions to pass from particular pieces of disguised nonsense to corresponding pieces of patent nonsense. Yet, in order to follow those directions one needs to allow oneself to become simultaneously tempted by and suspicious of their all-too-evident "metaphysical tone" - a tone which, as we shall see, is particularly manifest in those claims purporting to state what can or cannot be the case, and, still more particularly, those purporting to state what can or cannot be done in language or thought, thus leading to the view that there are some (determinate things which are ineffable or unthinkable. I conclude by suggesting that in writing those remarks Wittgenstein was still moved by an ethical project, which gets conspicuously displayed in these reiterations of his attempts to cure the readers (and himself from some of the temptations expressed by solipsism.

NRC closing remarks

International Nuclear Information System (INIS)

Coffman, F.

1994-01-01

This section contains the edited transcript of the NRC closing remarks made by Mr. Franklin Coffman (Chief, Human Factors Branch, Office of Nuclear Regulatory Research) and Dr. Cecil Thomas (Deputy Director, Division of Reactor Controls and Human Factors, Office of Nuclear Reactor Regulation). This editing consisted of minimal editing to correct grammar and remove extraneous references to microphone volume, etc

XP S, DRUV-Vis and ESR characterization of the non-stoichiometric compound Ge{sub 0.74}V{sub 0.21} □{sub 0.05}O{sub 2}

Energy Technology Data Exchange (ETDEWEB)

Boldu, J. L.; Barreto, J.; Rosales, I.; Bucio, L.; Orozco, E., E-mail: eligio@fisica.unam.mx [UNAM, Instituto de Fisica, Apdo. Postal 20-364, 01000 Ciudad de Mexico (Mexico)

2017-11-01

Microcrystalline powders of the nonstoichiometric Ge{sub 0.74}V{sub 0.21} □{sub 0.05}O{sub 2} compound were prepared by conventional high temperature solid-state reactions. The powders were characterized by X-ray diffraction (XRD); scanning electron microscopy (Sem); X-ray photoelectron spectroscopy (XP S); diffuse reflectance ultraviolet-visible spectroscopy (DRUV-Vis) and electron spin resonance (ESR) spectroscopy. From the analysis performed on compound, it was found that: the powders showed a rutile type crystalline structure with a rectangular prismatic crystalline habit. The XP S analysis, confirm the presence of V{sup 4+} and V{sup 5+} vanadium ions, the DRUV-Vis spectra show absorption bands in the 200-800 nm wave length interval and the ESR analysis confirms that the V{sup 4+} ions are within microcrystals, hosted as VO{sup 2+} at sites of rhombic (C{sub 2v}) symmetry. (Author)

Measurements of (n,xp), (n,xd) double differential cross sections of Al and C for neutrons at 75 and 65 MeV

Energy Technology Data Exchange (ETDEWEB)

Nauchi, Yasushi; Baba, Mamoru; Iwasaki, Tomohiko [Tohoku Univ., Sendai (Japan). Faculty of Engineering] [and others

1998-03-01

The (n,xp) and (n,xd) double differential cross sections (DDXs) of Al and C were measured at 6 angles (12deg, 17deg, 25deg, 40deg, 55deg and 70deg) for neutrons En=65 and 75 MeV. These data are compared with theoretical calculations of ISOBAR and GNASH. A new wide range spectrometer under fabrication to down the detection threshold is also described. (author)

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Science.gov (United States)

Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

2013-05-02

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Opening remarks

International Nuclear Information System (INIS)

Southwood, Richard

1987-01-01

General opening remarks to a conference on the effects of low-level radiation on man, exploring particularly areas where disagreements have most frequently been voiced. The author comments on two approaches: a) the study, stepwise of putative cause and effect chains, using models which are tested by comparing calculated and observed effects. b) the epidemiological approach by extensive correlative study of cause, correlations and effect. Attention is drawn to the confidence to be accorded to any quantitative theory supported by both approaches, and the need for further analysis if the approaches give different indications. (U.K.)

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Science.gov (United States)

Bahi-Buisson, Nadia; Girard, Benoit; Gautier, Agnes; Nectoux, Juliette; Fichou, Yann; Saillour, Yoann; Poirier, Karine; Chelly, Jamel; Bienvenu, Thierry

2010-01-05

We report a 2-year-old girl with early onset seizures variant of Rett syndrome with a deletion at Xp22 detected by multiplex ligation-dependent probe amplification (MLPA) technique. This patient presented with tonic seizures at 7 days of life. Subsequently, she developed infantile spasms at three months and finally refractory myoclonic epilepsy. She demonstrated severe encephalopathy with hypotonia, deceleration of head growth, with eye gaze but limited eye pursuit, no language, limited hand use, and intermittent hand stereotypies. This combination of clinical features, suggestive of early onset variant of Rett syndrome led us to screen the CDKL5 gene. In a first step, screening of the whole coding sequence of the CDKL5 gene revealed no point mutations. In a second step, we searched gross rearrangements by MLPA and identified a microdeletion affecting both the promoter and exon 1 in CDKL5. Subsequent analysis on a Nimblegen HD2 microarray confirmed a deletion of approximately 300 kb at Xp22, including the BEND2, SCML2, and CDKL5 genes. In conclusion, our report suggests that searching for large rearrangements in CDKL5 should be considered in girls with early onset seizures and Rett-like features. (c) 2009 Wiley-Liss, Inc.

Gene Expression Profiling of Xeroderma Pigmentosum

Directory of Open Access Journals (Sweden)

Bowden Nikola A

2006-05-01

Full Text Available Abstract Xeroderma pigmentosum (XP is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and (6-4 photoproducts. Nucleotide excision repair (NER orchestrates the removal of cyclobutane dimers and (6-4 photoproducts as well as some forms of bulky chemical DNA adducts. The disease XP is comprised of 7 complementation groups (XP-A to XP-G, which represent functional deficiencies in seven different genes, all of which are believed to be involved in NER. The main clinical feature of XP is various forms of skin cancers; however, neurological degeneration is present in XPA, XPB, XPD and XPG complementation groups. The relationship between NER and other types of DNA repair processes is now becoming evident but the exact relationships between the different complementation groups remains to be precisely determined. Using gene expression analysis we have identified similarities and differences after UV light exposure between the complementation groups XP-A, XP-C, XP-D, XP-E, XP-F, XP-G and an unaffected control. The results reveal that there is a graded change in gene expression patterns between the mildest, most similar to the control response (XP-E and the severest form (XP-A of the disease, with the exception of XP-D. Distinct differences between the complementation groups with neurological symptoms (XP-A, XP-D and XP-G and without (XP-C, XP-E and XP-F were also identified. Therefore, this analysis has revealed distinct gene expression profiles for the XP complementation groups and the first step towards understanding the neurological symptoms of XP.

Remarks of Joseph Marrone

International Nuclear Information System (INIS)

Marrone, J.

1985-01-01

The author's remarks are directed primarily at proposals that have been made that would substantially tort law with respect to radiation claims in order to ease the ability of claimants to recovery damages from defendants. The change would be based upon what had been assumed to be a ''scientific'' means of measuring the ''probability'' that exposure to ionizing radiation was the case of a cancer in a particular claimant. The remarks are divided into three parts: a summary description of the nuclear insurance pools, including the tort radiation claims filed against the pools; and a brief description of claims against the Federal Government and its contractors; an examination of the elementary principles of tort law, and an outline of the threat that has developed that would transform it into a hybrid social benefits program; and comment on the danger to the integrity of science when it is injected into the legislative process

Superficial characterization by XP S of silver nanoparticles and their hydrothermal deposit over zircaloy

International Nuclear Information System (INIS)

Contreras R, A.; Gutierrez W, C.; Martinez M, I.; Medina A, A. L.

2012-10-01

The analysis technique of X-ray photoelectron spectroscopy (XP S) is sensitive exclusively to the first layers of the solids surface, which allows obtaining information about the chemical, physical and electronic properties of them. The combustible elements of the boiling water nuclear reactors (BWR) are formed by zircaloy pipes that contain in their interior pellets or uranium dioxide. In this work is studied the zircaloy surface, oxidized zircaloy under similar conditions to those of a reactor BWR type and oxidized zircaloy with a hydrothermal deposit of silver nanoparticles and zinc. The silver deposit is a proposal of the Materials Technology Department of the Instituto Nacional de Investigaciones Nucleares (ININ) in Mexico, which has the same objective that the noble metals deposit (Pt, Pd, and Rh) that is practiced in some of the reactors BWR, in order to mitigating the speed of crack growth for IGSCC in stainless steels 304 Ss. (Author)

The effect of the initial exciton numbers on 54,56Fe(p, xp) Pre-Equilibrium Reactions

International Nuclear Information System (INIS)

Bölükdemir, M. H.; Tel, E.; Aydın, A.; Okuducu, S.; Kaplan, A.

2011-01-01

In pre-equilibrium nuclear reactions, the geometry-dependent hybrid model is applied with the use of the neutron and proton densities to investigate the effect of initial exciton numbers on the nucleon emission spectra. The initial exciton numbers calculated with the theoretical neutron and proton densities have been obtained within the Skryme-Hartree-Fock method with SKM* and SLy4 forces on target nuclei in the 54,56 Fe(p, xp) reaction at 61.5-MeV incident proton energy by using a new calculationmethod of Tel et al. Also, the differences between the initial exciton numbers for protons and neutrons as a function of nuclear radius, focusing on systematic discrepancies correlated to differences in the proton and neutron densities have been investigated.

Xeroderma pigmentosum-Cockayne syndrome complex.

Science.gov (United States)

Natale, Valerie; Raquer, Hayley

2017-04-04

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

Concluding remarks

International Nuclear Information System (INIS)

Vogt, E.

1989-05-01

The workshop has covered in a very interesting and complete way the basic physics issues to be addressed by the complementary facilities, in Canada and Japan, intended to explore the intensity-frontier of strong-interaction physics. Japan has its new KEK facilities and its future Japanese Hadron Project (JHP): Canada has its present TRIUMF laboratory and its future KAON Factory. Both JHP and KAON appear very near to final construction approval. The possibilities are very great for new joint programs between the two countries which can lead the world in the new strong interaction physics. These concluding remarks describe the general science basis and particularly the models for the internationalization of science needed to make these new collaborations thrive

An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3, a region frequently deleted in a variety of cancers

NARCIS (Netherlands)

Timmer, T; Terpstra, P; van den Berg, Anke; Veldhuis, PMJF; Ter Elst, A; van der Veen, AY; Kok, K; Naylor, SL; Buys, CHCM

1999-01-01

In searching for a tumor suppressor gene in the 3p21.3 region, we isolated two genes, RBM5 and RBM6. Sequence analysis indicated that these genes share similarity. RBM5 and-to a lesser extent-RBM6 also have similarity to DXS8237E at Xp11.3-11.23, which maps less than 20 kb upstream of UBE1. A

MS Windows domēna darbstacijas migrācijas iespējas no MS Windows XP uz MS Windows 7.

OpenAIRE

Zariņš, Valdis

2009-01-01

Kvalifikācijas darbā tiek aprakstītas MS Windows domēna darbstacijas migrācijas iespējas no MS Windows XP uz MS Windows 7, kā servera operētājsistēmas izmantojot tādus Microsoft produktus, kā Microsoft Windows Server 2003 un Microsoft Windows Server 2008. Kvalifikācijas darba teorētiskaja daļā tiek apskatīti Microsoft Windows 7 priekšrocības un uzlabojumus gan no darbstacijas lietotāja , gan no darbstacijas administratora puses. Ir aprakstītas Microsoft Windows Server 2008 jauninājumu ie...

Performance of Oak Seedlings Grown under Different Oust® XP Regimes

Directory of Open Access Journals (Sweden)

Andrew Self

2014-06-01

Full Text Available Herbaceous weed control (HWC is prescribed for growing season control of vegetative competition in hardwood afforestation attempts on former agricultural areas. Without HWC, planted seedlings often exhibit poor growth and survival. While currently employed HWC methods are proven, there is a substantial void in research comparing HWC treatments spanning multiple years. A total of 4,320 bare-root seedlings of three oak species were planted on three Mississippi sites. All sites were of comparable soils and received above average precipitation for the majority of the three-year study. Eight combinations of HWC and mechanical site preparation were utilized at each site, with 480 seedlings planted in each of the nine blocks, and a total of 1,440 seedlings per species planted across all sites. Treatments were installed on 3.1 m centers, with mechanical treatments as follows: control, subsoiling, bedding, and combination plowing. HWC treatments included one and two-year applications of Oust® XP. Treatments were applied over seedlings post-planting in 1.5 m bands, at a rate of 140.1 g product/hectare. Excepting one species, HWC dependent height or groundline diameter differences were not detected among mechanical treatments, species, HWC regime, or combinations thereof. No survival differences were observed among site preparation treatments or species. However, analysis detected a growing season/HWC treatment interaction for seedling survival.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

DEFF Research Database (Denmark)

Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria

2010-01-01

that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P......ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected...... 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating...

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

Energy Technology Data Exchange (ETDEWEB)

Vermeulen, W.; Kleijer, W.J.; Bootsma, D.; Hoeijmakers, J.H.J.; Weeda, G. (Erasmus Univ., Rotterdam (Netherlands)); Scott, R.J.; Rodgers, S.; Mueller, H.J. (Univ. Hospital, Basel (Switzerland)); Cole, J.; Arlett, C.F. (Univ. of Sussex, Brighton (United Kingdom))

1994-02-01

The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group B. In addition to its function in NER, the ERCC3 DNA helicase was recently identified as one of the components of the human BTF2/TFIIH transcription factor complex, which is required for initiation of transcription of class II genes. To date, a single patient (XP11BE) has been assigned to this XP group B (XP-B), with the remarkable conjunction of two autosomal recessive DNA repair deficiency disorders: XP and Cockayne syndrome (CS). The intriguing involvement of the ERCC3 protein in the vital process of transcription may provide an explanation for the rarity, severity, and wide spectrum of clinical features in this complementation group. Here the authors report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization. Molecular analysis of the ERCC3 gene in both patients revealed a single base substitution causing a missense mutation in a region that is completely conserved in yeast, Drosophila, mouse, and human ERCC3. As in patient XP11BE, the expression of only one allele (paternal) is detected. The mutation causes a virtually complete inactivation of the NER function of the protein. Despite this severe NER defect, both patients display a late onset of neurologic impairment, mild cutaneous symptoms, and a striking absence of skin tumors even at an age of >40 years. Analysis of the frequency of hprt[sup [minus

Interverntion, evidence-based research and everyday life

DEFF Research Database (Denmark)

Dreier, Ole

2011-01-01

Intervention is a key concept in the technology of psychology and it plays a decisive role in evidence-based research. But analyses of this concept are remarkably sparse. Based on a critical analysis of the conception of intervention in the American Psychological Association’s guidelines for evid...

Concluding Remarks | Ewing | Rwanda Journal

African Journals Online (AJOL)

Rwanda Journal. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 2, No 2 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Concluding Remarks. Helen Ewing. Abstract. No Abstract. Full Text:.

Controlled phase stability of highly Na-active triclinic structure in nanoscale high-voltage Na2-2xCo1+xP2O7 cathode for Na-ion batteries

Science.gov (United States)

Song, Hee Jo; Kim, Jae-Chan; Dar, Mushtaq Ahmad; Kim, Dong-Wan

2018-02-01

With the increasing demand for high energy density in energy-storage systems, a high-voltage cathode is essential in rechargeable Li-ion and Na-ion batteries. The operating voltage of a triclinic-polymorph Na2CoP2O7, also known as the rose form, is above 4.0 V (vs. Na/Na+), which is relatively high compared to that of other cathode materials. Thus, it can be employed as a potential high-voltage cathode material in Na-ion batteries. However, it is difficult to synthesize a pure rose phase because of its low phase stability, thus limiting its use in high-voltage applications. Herein, compositional-engineered, rose-phase Na2-2xCo1+xP2O7/C (x = 0, 0.1 and 0.2) nanopowder are prepared using a wet-chemical method. The Na2-2xCo1+xP2O7/C cathode shows high electrochemical reactivity with Na ions at 4.0 V, delivering high capacity and high energy density.

Compound haplotypes at Xp11.23 and human population growth in Eurasia.

Science.gov (United States)

Alonso, S; Armour, J A L

2004-09-01

To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Compared to Africans, Eurasians showed a marked reduction in sequence diversity. The main Euro-Asiatic haplotype seems to be the ancestral haplotype for the whole sample. Coalescent simulations, including recombination and exponential growth, indicate a median length of strong linkage disequilibrium, up to approximately 9 kb for this area. The Ka/Ks ratio between the coding sequence of human CLCN5 and its mouse orthologue is much less than 1. This implies that the region sequenced is unlikely to be under the strong influence of positive selective processes on CLCN5, mutations in which have been associated with disorders such as Dent's disease. In contrast, a scenario based on a population bottleneck and exponential growth seems a more likely explanation for the reduced diversity observed in Eurasians. Coalescent analysis and linked minisatellite diversity (which reaches a gene diversity value greater than 98% in Eurasians) suggest an estimated age of origin of the Euro-Asiatic diversity compatible with a recent out-of-Africa model for colonization of Eurasia by modern Homo sapiens.

A Brief Investigation of the Hydrodynamic Characteristics of a 1/13.33-Scale Powered Dynamic Model of a Preliminary Design of the Martin XP6M-1 Flying Boat, TED No. NACA DE-385

Science.gov (United States)

Blanchard, Ulysse J.

1953-01-01

The hydrodynamic characteristics of a preliminary design of the Martin XP6M-1 flying boat have been determined. Longitudinal stability during take-off and landing, resistance of the complete model, and behavior during taxiing and landing in rough water are presented.

Remarks on superconductive networks

International Nuclear Information System (INIS)

Dominguez, D.; Lopez, A.R.N.; Simonin, J.M.

1989-01-01

Some remarks on the determination of the normal-superconductor phase boundary in random superconductive networks are made. A recently reported work by Soukoulis, Grest and Li which introduces weak links between nodes as these are removed in the site percolation problem is discussed. By the analysis of two simple geometries, it is shown that this procedure introduces spurious effects which mask the physical properties of the system. These affect in particular the field slope critical index and the sharpness of the normal-superconductor boundary. (Author)

Smear layer removal evaluation of different protocol of Bio Race file and XP- endo Finisher file in corporation with EDTA 17% and NaOCl.

Science.gov (United States)

Zand, Vahid; Mokhtari, Hadi; Reyhani, Mohammad-Frough; Nahavandizadeh, Neda; Azimi, Shahram

2017-11-01

The aim of the present study was to compare the amount of the smear layer remaining in prepared root canals with different protocols of Bio RaCe files and XP-endo Finisher file (XPF) in association with 17% EDTA and sodium hypochlorite solution. A total of 68 extracted single-rooted teeth were randomly divided into 4 experimental groups (n=14) and two control groups (n=6). The root canals were prepared with Bio RaCe files (FKG Dentaire, Switzerland) using the crown-down technique based on manufacturer's instructions and irrigated according to the following irrigation techniques: Group 1: XPF with 2 mL of 2.5% NaOCl for 1 minute. Group 2:, XPF with 1 mL of 17% EDTA for one minute. Group 3: XPF was used for 1 minute in association with normal saline solution. Group 4: XP-endo Finisher file for 30 seconds in association with 2.5% NaOCl and 17% EDTA for 30 seconds. The negative control group: NaOCl (2.5%) was used during root canal preparation, followed by irrigation with 17% EDTA at the end of root canal preparation. The positive control group: Normal saline solution was used for irrigation during root canal preparation. In all the groups, during preparation of the root canals with Bio RaCe file, 20 mL of 2.5% NaOCl was used for root canal irrigation and at the end of the procedural steps 20 mL of normal saline solution was used as a final irrigant. The samples were analyzed under SEM at ×1000‒2000 magnification and evaluated using Torabinejad scoring system. Data were analyzed with non-parametric Kruskal-Wallis test and post hoc Mann-Whitney U test, using SPSS. Statistical significant was defined at P <0.05. The results of the study showed the least amount of the smear layer at coronal, middle and apical thirds of the root canals in groups 2, which was not significantly different from the negative control group ( P <0.5). Under the limitations of the present study, use of a combination of NaOCl and EDTA in association with XPF exhibited the best efficacy for the

Concluding Remarks: Experiment from a materials perspective

International Nuclear Information System (INIS)

Fisk, Z

2011-01-01

The author provides some remarks regarding the current status of experiments in strongly correlated electron systems. By construction, they are biased by the author's perspectives at the time of writing.

Desarrollo de herramienta de gestión de proyectos RUP usando metodologías Scrum + XP : gestión del proyecto y requisitos

OpenAIRE

Molina Romero, Javier; Quishpi Betún, Luis

2016-01-01

Una de las principales causas por las que los proyectos de desarrollo software fracasan es la ausencia de metodología en su desarrollo. La motivación que hay detrás de este proyecto es el desarrollo de una aplicación web usando la metodología Rational Unified Process (RUP) y aprender, en una situación real, cómo desarrollar utilizando las metodologías Scrum + XP. El principal objetivo de este proyecto es el seguimiento y documentación de una aplicación web para gestionar proyectos mediant...

2011 Asia Pacific Few-Body Conference Summary Remarks

International Nuclear Information System (INIS)

Gibson, B. F.

2013-01-01

These remarks represent the author’s personal perspective regarding ideas presented at this fifth Asia Pacific Conference on Few-Body Problems in Physics. They are not intended as a comprehensive summary of what we witnessed during this week of stimulating presentations and intense discussions. However, these remarks do characterize some of the physics we heard and some of the key questions raised. The ideas presented will hopefully outlive the rapporteurs who brought their work and that of others to our attention here in the International Hall of the Sungkyunkwan University in Seoul, Republic of Korea. (author)

Remarks on “A new non-specificity measure in evidence theory based on belief intervals”

Directory of Open Access Journals (Sweden)

Joaquín ABELLÁN

2018-03-01

Full Text Available Two types of uncertainty co-exist in the theory of evidence: discord and non-specificity. From 90s, many mathematical expressions have arisen to quantify these two parts in an evidence. An important aspect of each measure presented is the verification of a coherent set of properties. About non-specificity, so far only one measure verifies an important set of those properties. Very recently, a new measure of non-specificity based on belief intervals has been presented as an alternative measure that quantifies a similar set of properties (Yang et al., 2016. It is shown that the new measure really does not verify two of those important properties. Some errors have been found in their corresponding proofs in the original publication. Keywords: Additivity, Imprecise probabilities, Non-specificity, Subadditivity, Theory of evidence, Uncertainty measures

Remarks on the clump theory

International Nuclear Information System (INIS)

Krommes, J.A.

1986-07-01

Further details are provided of a soon-to-be published dialog [Phys. Fluids 29 (July, 1986)] which discussed the role of the small scales in fluid clump theory. It is argued that the approximation of the clump lifetime which is compatible with exponentially rapid separation of adjacent orbits is inappropriate for the description of the dynamically important large scales. Various other remarks are made relating to the analytic treatment of strong drift-wave-like turbulence

Remarks on the clump theory

International Nuclear Information System (INIS)

Krommes, J.A.

1986-01-01

Further details are provided of a recently published dialog [Phys. Fluids 29 (July, 1986)] which discussed the role of the small scales in fluid clump theory. It is argued that the approximation of the clump lifetime which is compatible with exponentially rapid separation of adjacent orbits is inappropriate for the description of the dynamically important large scales. Various other remarks are made relating to the analytic treatment of strong drift-wave-like turbulence. (author)

Remarks on High Energy Evolution

OpenAIRE

Kovner, Alex; Lublinsky, Michael

2005-01-01

We make several remarks on the B-JIMWLK hierarchy. First, we present a simple and instructive derivation of this equation by considering an arbitrary projectile wave function with small number of valence gluons. We also generalize the equation by including corrections which incorporate effects of high density in the projectile wave function. Second, we systematically derive the dipole model approximation to the hierarchy. We show that in the dipole approximation the hierarchy has a simplifyin...

DNA synthesis in ataxia telangiectasia

OpenAIRE

Jaspers, Nicolaas

1985-01-01

textabstractAfter the discovery that cultured cells from AT patients are hypersensitive to ionizing radiation the suggestion was made that AT-could be the 1 X-ray-analogue 1 of xeroderma pigmentosum. The latter syndrome (XP) is characterized by hypersensitivity to short-wave UV-radiation, caused by a reduced ability to properly remove UV-induced DNA damage. The evidence for a DNA repair defect in AT cells is not as strong as in the case of XP (see section 2.2.5 of this thesis). Different XP p...

Structural and optical properties of GaxIn1-xP layers grown by chemical beam epitaxy

Science.gov (United States)

Seong, Tae-Yeon; Yang, Jung-Ja; Ryu, Mee Yi; Song, Jong-In; Yu, Phil W.

1998-05-01

Chemical beam epitaxial (CBE) GaxIn1-xP layers (x≈0.5) grown on (001) GaAs substrates at temperatures ranging from 490 to 580°C have been investigated using transmission electron diffraction (TED), transmission electron microscopy, and photoluminescence (PL). TED examination revealed the presence of diffuse scattering 1/2{111}B positions, indicating the occurrence of typical CuPt-type ordering in the GaInP CBE layers. As the growth temperature decreased from 580 to 490°C, maxima in the intensity of the diffuse scattering moved from ½{111}B to ½{-1+δ,1-δ,0} positions, where δ is a positive value. As the growth temperature increased from 490 to 550°C, the maxima in the diffuse scattering intensity progressively approached positions of 1/2\\{bar 110\\} , i.e., the value of δ decreased from 0.25 to 0.17. Bandgap reduction (˜45 meV) was observed in the CBE GaInP layers and was attributed to the presence of ordered structures.

A Regional PD Strategy for EPR Systems: Evidence-Based IT Development

DEFF Research Database (Denmark)

Simonsen, Jesper; Hertzum, Morten

2006-01-01

One of the five regions in Denmark has initiated a remark-able and alternative strategy for the development of Elec-tronic Patient Record (EPR) systems. This strategy is driven by Participatory Design (PD) experiments and based on evidence of positive effects on the clinical practice when using EPR...... systems. We present this PD strategy and our related research on evidence-based IT development. We report from a newly completed PD experiment with EPR in the region conducted through a close collaboration compris-ing a neurological stroke unit, the region’s EPR unit, the vendor, as well as the authors....

Some remarks on the Bonnor-Swaminarayan solution

International Nuclear Information System (INIS)

Berezdivin, R.; Herrera, L.

1976-01-01

The letter re-examines the Bonnor-Swaminarayan solution with the aim to try a clarification of its physical interpretation. The radiative nature of the solution as suggested by Bicak is questioned and some remarks on this topic are given

Remarks about the hypothesis of limiting fragmentation

International Nuclear Information System (INIS)

Chou, T.T.; Yang, C.N.

1987-01-01

Remarks are made about the hypothesis of limiting fragmentation. In particular, the concept of favored and disfavored fragment distribution is introduced. Also, a sum rule is proved leading to a useful quantity called energy-fragmentation fraction. (author). 11 refs, 1 fig., 2 tabs

Polypyridyl iron(II) complexes showing remarkable photocytotoxicity ...

Indian Academy of Sciences (India)

aditya

Polypyridyl iron(II) complexes showing remarkable photocytotoxicity in visible light. ADITYA GARAI a. , UTTARA BASU a. , ILA PANT b. , PATURU KONDAIAH*. ,b. AND. AKHIL R. CHAKRAVARTY*. ,a a. Department of Inorganic and Physical Chemistry, Indian Institute of Science, Bangalore. 560012, India. E-mail: ...

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

Science.gov (United States)

Collins, F A; Murphy, D L; Reiss, A L; Sims, K B; Lewis, J G; Freund, L; Karoum, F; Zhu, D; Maumenee, I H; Antonarakis, S E

1992-01-01

Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy-habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for "chronic hypomania and schizotypal features." The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.

Closing remarks

International Nuclear Information System (INIS)

Reig, J.

2007-01-01

Good afternoon. Before providing the closing remarks on behalf of the NEA, I would like to take this opportunity and make some personal reflections, if you allow me Mr. Chairman. I have had the opportunity to take part in the three workshops on public communication organised by the NEA. In the first one in Paris in 2000, representing my country, Spain, and in the two last ones in Ottawa in 2004 and Tokyo today, on behalf of the NEA. The topics for the three workshops follow a logical order, first the focus was on investing in trust in a time when public communication was becoming a big challenge for the regulators. Second, maintaining and measuring public confidence to assess how credible regulators are in front of the public; and finally here in Tokyo, transparency, which is a basic element to achieve trust and credibility. In my view, a regulatory decision has three main components, it has to be technically sound. legally correct and well communicated. The emphasis in the early years was in the technical matters, till legal issues became a key element to achieve the political acceptance from governments and local authorities. Finally the public communication aspects resulted into a major effort and challenge to achieve social acceptance. (author)

Full-Scale Hydrodynamic Evaluation of a Modified Navy J4F-2 Amphibian with a 0.425-Scale XP5M-1 Hull Bottom. TED No. NACA DE325

Science.gov (United States)

Land, Norman S.; Elliott, John M.; Christopher, Kenneth W.

1949-01-01

An investigation was made to evaluate the hydrodynamic qualities of a 0.425-scale model of the Navy XP5M-1 hull, which was installed on a modified Navy J4F-2 amphibian. Longitudinal and directional stability during take-off and landing, low-speed maneuverability, spray characteristics, and take-off performance were investigated. The behavior of the airplane in moderately rough water was also observed. The opinions of three pilots have been correlated with the data.

An investigation of the predictors of photoprotection and UVR dose to the face in patients with XP: a protocol using observational mixed methods.

Science.gov (United States)

Walburn, Jessica; Sarkany, Robert; Norton, Sam; Foster, Lesley; Morgan, Myfanwy; Sainsbury, Kirby; Araújo-Soares, Vera; Anderson, Rebecca; Garrood, Isabel; Heydenreich, Jakob; Sniehotta, Falko F; Vieira, Rute; Wulf, Hans Christian; Weinman, John

2017-08-21

Xeroderma pigmentosum (XP) is a rare genetic condition caused by defective nucleotide excision repair and characterised by skin cancer, ocular and neurological involvement. Stringent ultraviolet protection is the only way to prevent skin cancer. Despite the risks, some patients' photoprotection is poor, with a potentially devastating impact on their prognosis. The aim of this research is to identify disease-specific and psychosocial predictors of photoprotection behaviour and ultraviolet radiation (UVR) dose to the face. Mixed methods research based on 45 UK patients will involve qualitative interviews to identify individuals' experience of XP and the influences on their photoprotection behaviours and a cross-sectional quantitative survey to assess biopsychosocial correlates of these behaviours at baseline. This will be followed by objective measurement of UVR exposure for 21 days by wrist-worn dosimeter and daily recording of photoprotection behaviours and psychological variables for up to 50 days in the summer months. This novel methodology will enable UVR dose reaching the face to be calculated and analysed as a clinically relevant endpoint. A range of qualitative and quantitative analytical approaches will be used, reflecting the mixed methods (eg, cross-sectional qualitative interviews, n-of-1 studies). Framework analysis will be used to analyse the qualitative interviews; mixed-effects longitudinal models will be used to examine the association of clinical and psychosocial factors with the average daily UVR dose; dynamic logistic regression models will be used to investigate participant-specific psychosocial factors associated with photoprotection behaviours. This research has been approved by Camden and King's Cross Research Ethics Committee 15/LO/1395. The findings will be published in peer-reviewed journals and presented at national and international scientific conferences. © Article author(s) (or their employer(s) unless otherwise stated in the text of

Remarks on the elaboration of an English–Spanish ...

African Journals Online (AJOL)

Spanish word-combination dictionary examined here, some concluding remarks are made with regard to the educational implications of this kind of dictionary primarily aimed at intermediate- to advanced-level Spanish-speaking EFL learners.

Phase transitions and magnetocaloric effects in intermetallic compounds MnFeX (X=P, As, Si, Ge)

International Nuclear Information System (INIS)

Tegus, O.; Bao Li-Hong; Song Lin

2013-01-01

Since the discovery of giant magnetocaloric effect in MnFeP 1−x As x compounds, much valuable work has been performed to develop and improve Fe 2 P-type transition-metal-based magnetic refrigerants. In this article, the recent progress of our studies on fundamental aspects of theoretical considerations and experimental techniques, effects of atomic substitution on the magnetism and magnetocalorics of Fe 2 P-type intermetallic compounds MnFeX (X=P, As, Ge, Si) is reviewed. Substituting Si (or Ge) for As leads to an As-free new magnetic material MnFeP 1−x Si(Ge) x . These new materials show large magnetocaloric effects resembling MnFe(P, As) near room temperature. Some new physical phenomena, such as huge thermal hysteresis and ‘virgin’ effect, were found in new materials. On the basis of Landau theory, a theoretical model was developed for studying the mechanism of phase transition in these materials. Our studies reveal that MnFe(P, Si) compound is a very promising material for room-temperature magnetic refrigeration and thermo-magnetic power generation. (topical review - magnetism, magnetic materials, and interdisciplinary research)

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Science.gov (United States)

Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre

2007-02-15

We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases. (c) 2007 Wiley-Liss, Inc.

Xeroderma pigmentosum complementation group F: Report of a case and review of Japanese patients.

Science.gov (United States)

Tofuku, Yukari; Nobeyama, Yoshimasa; Kamide, Ryoichi; Moriwaki, Shinichi; Nakagawa, Hidemi

2015-09-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by extraordinary sensitivity to sunlight, resulting in cutaneous malignant tumors. Among XP, XP-F presents relatively uniquely in Japanese. To clarify the characteristics of this group, we describe a case of XP-F and review Japanese cases previously reported. A 50-year-old Japanese woman was referred to us with multiple, variously sized, light- or dark-brown macules on the face and sunlight-exposed extremities. She had experienced bulla formation with approximately 10 min of sunlight exposure during her elementary school years. Her parents had been first cousins, and her mother and sister had photosensitivity. She showed no neurological or developmental abnormalities. Ultraviolet (UV) irradiation testing revealed normal levels for minimal erythema dose with UV-A and UV-B. Sensitivity to UV-C and DNA repair ability in the patient's fibroblasts were indicated between that in normal individuals and that in an XP-A patient. Complementation assay revealed that transfection of the XPF gene led most efficient DNA repair compared with the other XP genes. Therefore, the patient was diagnosed with XP-F. Twenty-three cases of Japanese patients (six males, 17 females) with XP-F have been reported, including the present case. Our review suggested a relatively high prevalence of 50% (11/22) for cutaneous malignant tumors. A significant difference was evident in the mean age at first medical consultation between patients with cutaneous malignant tumors (53.6 years) and patients without such tumors (30.8 years). This suggests that cutaneous malignant tumors could occur in the age range of 30-50 years in XP-F patients. © 2015 Japanese Dermatological Association.

Measurement of the spin density matrix for the $\\rho^0$, $K^{*0}(892)$ and $\\phi$ produced in $Z^0$ Decays

CERN Document Server

Abreu, P; Adye, T; Alekseev, G D; Alemany, R; Allport, P P; Almehed, S; Amaldi, Ugo; Amato, S; Andersson, P; Andreazza, A; Antilogus, P; Apel, W D; Arnoud, Y; Åsman, B; Augustin, J E; Augustinus, A; Baillon, Paul; Bambade, P; Barão, F; Barbi, M S; Barbiellini, Guido; Bardin, Dimitri Yuri; Barker, G; Baroncelli, A; Bärring, O; Bates, M J; Battaglia, Marco; Baubillier, M; Baudot, J; Becks, K H; Begalli, M; Beillière, P; Belokopytov, Yu A; Benvenuti, Alberto C; Bérat, C; Berggren, M; Bertini, D; Bertrand, D; Besançon, M; Bianchi, F; Bigi, M; Bilenky, S M; Billoir, P; Bizouard, M A; Bloch, D; Blume, M; Bonesini, M; Bonivento, W; Booth, P S L; Borgland, A W; Borisov, G; Bosio, C; Botner, O; Boudinov, E; Bouquet, B; Bourdarios, C; Bowcock, T J V; Bozzo, M; Branchini, P; Brand, K D; Brenke, T; Brenner, R A; Bricman, C; Brown, R C A; Brückman, P; Brunet, J M; Bugge, L; Buran, T; Burgsmüller, T; Buschmann, P; Cabrera, S; Caccia, M; Calvi, M; Camacho-Rozas, A J; Camporesi, T; Canale, V; Canepa, M; Cao, F; Carena, F; Carroll, L; Caso, Carlo; Castillo-Gimenez, M V; Cattai, A; Cavallo, F R; Chabaud, V; Chapkin, M M; Charpentier, P; Chaussard, L; Checchia, P; Chelkov, G A; Chen, M; Chierici, R; Chliapnikov, P V; Chochula, P; Chorowicz, V; Chudoba, J; Cindro, V; Collins, P; Contri, R; Cortina, E; Cosme, G; Cossutti, F; Cowell, J H; Crawley, H B; Crennell, D J; Crosetti, G; Cuevas-Maestro, J; Czellar, S; Dahm, J; D'Almagne, B; Dam, M; Damgaard, G; Dauncey, P D; Davenport, Martyn; Da Silva, W; Deghorain, A; Della Ricca, G; Delpierre, P A; Demaria, N; De Angelis, A; de Boer, Wim; De Brabandere, S; De Clercq, C; La Vaissière, C de; De Lotto, B; De Min, A; De Paula, L S; Dijkstra, H; Di Ciaccio, Lucia; Di Diodato, A; Djannati, A; Dolbeau, J; Doroba, K; Dracos, M; Drees, J; Drees, K A; Dris, M; Durand, J D; Edsall, D M; Ehret, R; Eigen, G; Ekelöf, T J C; Ekspong, Gösta; Elsing, M; Engel, J P; Erzen, B; Espirito-Santo, M C; Falk, E; Fanourakis, G K; Fassouliotis, D; Feindt, Michael; Fenyuk, A; Ferrari, P; Ferrer, A; Fichet, S; Filippas-Tassos, A; Firestone, A; Fischer, P A; Föth, H; Fokitis, E; Fontanelli, F; Formenti, F; Franek, B J; Frodesen, A G; Frühwirth, R; Fulda-Quenzer, F; Fuster, J A; Galloni, A; Gamba, D; Gandelman, M; García, C; García, J; Gaspar, C; Gasparini, U; Gavillet, P; Gazis, E N; Gelé, D; Gerber, J P; Gerdyukov, L N; Gokieli, R; Golob, B; Gonçalves, P; Gopal, Gian P; Gorn, L; Górski, M; Guz, Yu; Gracco, Valerio; Graziani, E; Green, C; Grefrath, A; Gris, P; Grosdidier, G; Grzelak, K; Günther, M; Guy, J; Hahn, F; Hahn, S; Hajduk, Z; Hallgren, A; Hamacher, K; Harris, F J; Hedberg, V; Henriques, R P; Hernández, J J; Herquet, P; Herr, H; Hessing, T L; Heuser, J M; Higón, E; Holmgren, S O; Holt, P J; Holthuizen, D J; Hoorelbeke, S; Houlden, M A; Hrubec, Josef; Huet, K; Hultqvist, K; Jackson, J N; Jacobsson, R; Jalocha, P; Janik, R; Jarlskog, C; Jarlskog, G; Jarry, P; Jean-Marie, B; Johansson, E K; Jönsson, L B; Jönsson, P E; Joram, Christian; Juillot, P; Kaiser, M; Kapusta, F; Karafasoulis, K; Katsanevas, S; Katsoufis, E C; Keränen, R; Khokhlov, Yu A; Khomenko, B A; Khovanskii, N N; King, B J; Kjaer, N J; Klapp, O; Klein, H; Kluit, P M; Knoblauch, D; Kokkinias, P; Koratzinos, M; Korcyl, K; Kostyukhin, V; Kourkoumelis, C; Kuznetsov, O; Krammer, Manfred; Kreuter, C; Kronkvist, I J; Krstic, J; Krumshtein, Z; Krupinski, W; Kubinec, P; Kucewicz, W; Kurvinen, K L; Lacasta, C; Laktineh, I; Lamsa, J; Lanceri, L; Lane, D W; Langefeld, P; Laugier, J P; Lauhakangas, R; Leder, Gerhard; Ledroit, F; Lefébure, V; Legan, C K; Leisos, A; Leitner, R; Lemonne, J; Lenzen, Georg; Lepeltier, V; Lesiak, T; Libby, J; Liko, D; Lipniacka, A; Lippi, I; Lörstad, B; Loken, J G; López, J M; Loukas, D; Lutz, P; Lyons, L; MacNaughton, J N; Maehlum, G; Mahon, J R; Maio, A; Malmgren, T G M; Malychev, V; Mandl, F; Marco, J; Marco, R P; Maréchal, B; Margoni, M; Marin, J C; Mariotti, C; Markou, A; Martínez-Rivero, C; Martínez-Vidal, F; Martí i García, S; Masik, J; Matorras, F; Matteuzzi, C; Matthiae, Giorgio; Mazzucato, M; McCubbin, M L; McKay, R; McNulty, R; McPherson, G; Medbo, J; Meroni, C; Meyer, S; Meyer, W T; Myagkov, A; Michelotto, M; Migliore, E; Mirabito, L; Mitaroff, Winfried A; Mjörnmark, U; Moa, T; Møller, R; Mönig, K; Monge, M R; Morettini, P; Müller, H; Münich, K; Mulders, M; Mundim, L M; Murray, W J; Muryn, B; Myatt, Gerald; Myklebust, T; Naraghi, F; Navarria, Francesco Luigi; Navas, S; Nawrocki, K; Negri, P; Némécek, S; Neumann, W; Neumeister, N; Nicolaidou, R; Nielsen, B S; Nieuwenhuizen, M; Nikolaenko, V; Nikolenko, M; Niss, P; Nomerotski, A; Normand, Ainsley; Nygren, A; Oberschulte-Beckmann, W; Obraztsov, V F; Olshevskii, A G; Onofre, A; Orava, Risto; Orazi, G; Österberg, K; Ouraou, A; Paganini, P; Paganoni, M; Pain, R; Palka, H; Papadopoulou, T D; Papageorgiou, K; Pape, L; Parkes, C; Parodi, F; Parzefall, U; Passeri, A; Pegoraro, M; Peralta, L; Pernegger, H; Pernicka, Manfred; Perrotta, A; Petridou, C; Petrolini, A; Phillips, H T; Piana, G; Pierre, F; Pimenta, M; Podobnik, T; Podobrin, O; Pol, M E; Polok, G; Poropat, P; Pozdnyakov, V; Privitera, P; Pukhaeva, N; Pullia, Antonio; Radojicic, D; Ragazzi, S; Rahmani, H; Ratoff, P N; Read, A L; Reale, M; Rebecchi, P; Redaelli, N G; Regler, Meinhard; Reid, D; Reinhardt, R; Renton, P B; Resvanis, L K; Richard, F; Rídky, J; Rinaudo, G; Røhne, O M; Romero, A; Ronchese, P; Roos, L; Rosenberg, E I; Rosinsky, P; Roudeau, Patrick; Rovelli, T; Ruhlmann-Kleider, V; Ruiz, A; Rybicki, K; Saarikko, H; Sacquin, Yu; Sadovskii, A; Sajot, G; Salt, J; Sannino, M; Schneider, H; Schwickerath, U; Schyns, M A E; Sciolla, G; Scuri, F; Seager, P; Sedykh, Yu; Segar, A M; Seitz, A; Sekulin, R L; Serbelloni, L; Shellard, R C; Sheridan, A; Siegrist, P; Silvestre, R; Simonetto, F; Sissakian, A N; Skaali, T B; Smadja, G; Smirnov, N; Smirnova, O G; Smith, G R; Sokolov, A; Solovyanov, O; Sosnowski, R; Souza-Santos, D; Spassoff, Tz; Spiriti, E; Sponholz, P; Squarcia, S; Stampfer, D; Stanescu, C; Stanic, S; Stapnes, Steinar; Stavitski, I; Stevenson, K; Stocchi, A; Strauss, J; Strub, R; Stugu, B; Szczekowski, M; Szeptycka, M; Tabarelli de Fatis, T; Tavernet, J P; Tegenfeldt, F; Terranova, F; Thomas, J; Tilquin, A; Timmermans, J; Tkatchev, L G; Todorov, T; Todorova, S; Toet, D Z; Tomaradze, A G; Tonazzo, A; Tortora, L; Tranströmer, G; Treille, D; Tristram, G; Trombini, A; Troncon, C; Tsirou, A L; Turluer, M L; Tyapkin, I A; Tyndel, M; Tzamarias, S; Überschär, B; Ullaland, O; Uvarov, V; Valenti, G; Vallazza, E; van Apeldoorn, G W; van Dam, P; Van Eldik, J; Van Lysebetten, A; Vassilopoulos, N; Vegni, G; Ventura, L; Venus, W A; Verbeure, F; Verlato, M; Vertogradov, L S; Vilanova, D; Vincent, P; Vitale, L; Vlasov, E; Vodopyanov, A S; Vrba, V; Wahlen, H; Walck, C; Weiser, C; Wetherell, Alan M; Wicke, D; Wickens, J H; Wielers, M; Wilkinson, G R; Williams, W S C; Winter, M; Witek, M; Wlodek, T; Yi, J; Yip, K; Yushchenko, O P; Zach, F; Zaitsev, A; Zalewska-Bak, A; Zalewski, Piotr; Zavrtanik, D; Zevgolatakos, E; Zimin, N I; Zucchelli, G C; Zumerle, G

1997-01-01

The spin density matrix elements for the $\\rho^0$, K$^{*0}(892)$ and $\\phi$ produced in hadronic Z$^0$ decays are measured in the DELPHI detector. There is no evidence for spin alignment of the K$^{*0}(892)$ and $\\phi$ in the region $x_p \\leq 0.3$ ($x_p = p/p_{beam}$), where $\\rho_{00} = 0.33 \\pm 0.05$ and $\\rho_{00} = 0.30 \\pm 0.04$, respectively. In the fragmentation region, $x_p \\geq 0.4$, there is some indication for spin alignment of the $\\rho^0$ and K$^{*0}(892)$, since $\\rho_{00} = 0.43 \\pm 0.05$ and $\\rho_{00} = 0.46 \\pm 0.08$, respectively. These values are compared with those found in meson-induced hadronic reactions. For the $\\phi$, $\\rho_{00} = 0.30 \\pm 0.04$ for $x_p \\geq 0.4$ and $0.55 \\pm 0.10$ for $x_p \\geq 0.7$. The off-diagonal spin density matrix element $\\rho_{1-1}$ is consistent with zero in all cases.

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.

Science.gov (United States)

Mariani, E; Facchini, A; Honorati, M C; Lalli, E; Berardesca, E; Ghetti, P; Marinoni, S; Nuzzo, F; Astaldi Ricotti, G C; Stefanini, M

1992-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by photosensitivity, a high incidence of cancer in sun-exposed portions of the skin and a reduced capacity to repair the u.v.-induced DNA damage. One of the XP mutations (XP-D) has also been identified in patients affected by trichothiodystrophy (TTD), a rare autosomal recessive disease characterized by brittle hair, mental and physical retardation, peculiar face and ichthyosis. However, in these patients there is no evidence of increased skin tumour incidence. Since an impairment of cell-mediated immunity has been proposed as a co-factor in the cancer proneness of XP patients, we investigated the involvement of immune defect(s) in five XP patients, five TTD patients, their parents, and 24 TTD relatives. We evaluated the phenotype of circulating lymphocytes, natural killer (NK) cell lytic activity, target cell binding of NK cells at single cell level and the effect of interferons (IFN) alpha and beta on NK cell activity. The relative proportion of CD3+ and CD4+ circulating lymphocytes was reduced in XP but not in TTD patients. NK cell lytic activity was decreased in XP patients and their mothers, but their fathers showed normal lytic activity. NK activity varied among TTD families: four out of five patients and their relatives presented low NK cell activity, and one family was normal. In TTD family members, NK activity increased after incubation with IFN-alpha or IFN-beta, but never reached normal values. In contrast, in XP patients and their mothers, the defect was almost completely corrected after in vitro incubation with IFN-alpha or IFN-beta. Our study indicates impaired NK lytic activity in the majority of TTD and XP patients and that this defect is present also in members of their families. In addition, XP patients present a low number of circulating T cells. These multiple abnormalities, together with DNA repair defects, could be related to the increased cancer risk in XP patients

Transfer of Chinese hamster DNA repair gene(s) into repair-deficient human cells (Xeroderma pigmentosum)

International Nuclear Information System (INIS)

Karentz, D.; Cleaver, J.E.

1985-01-01

Transfer of repair genes by DNA transfection into repair-deficient Xeroderma pigmentosum (XP) cells has thus far been unsuccessful, presenting an obstacle to cloning XP genes. The authors chose an indirect route to transfer repair genes in chromosome fragments. DNA repair-competent (UV resistant) hybrid cell lines were established by PEG-mediated fusions of DNA repair-deficient (UV sensitive) human fibroblasts (XP12RO) with wild type Chinese hamster (CHO) cells (AA8). CHO cells were exposed to 5 Krad X-rays prior to fusions, predisposing hybrid cells to lose CHO chromosome fragments preferentially. Repair-competent hybrids were selected by periodic exposures to UV light. Secondary and tertiary hybrid cell lines were developed by fusion of X-irradiated hybrids to XP12RO. The hybrid cell lines exhibit resistance to UV that is comparable to that of CHO cells and they are proficient at repair replication after UV exposure. Whole cell DNA-DNA hybridizations indicate that the hybrids have greater homology to CHO DNA than is evident between XP12RO and CHO. These observations indicate that CHO DNA sequences which can function in repair of UV-damaged DNA in human cells have been transferred into the genome of the repair-deficient XP12RO cells

Radiation effects in amorphous Fe/sub x/Ni/sub 80-x/P14B6

International Nuclear Information System (INIS)

Franz, W.T.; Steck, G.; Kramer, J.J.; Murray, R.B.; Onn, D.G.

1980-01-01

Changes in the Curie temperature and magnetic saturation of the amorphous ferromagnetic series Fe/sub x/Ni/sub 80-x/P 14 B 6 for 20 less than or equal to x less than or equal to 34 induced by proton bombardment have been studied, and correlated with small angle x-ray scattering measurements performed for x = 20 at Oak Ridge National Laboratory. Both the Curie temperature and the low temperature saturation magnetization increase with proton fluence up to 10 16 cm -2 but are constant for higher fluences. Protons of energy 2.25 MeV (range much greater than the sample thickness) are more effective at producing changes than protons of energy 0.25 MeV (range much less than sample thickness). Thus, hydrogen implantation is eliminated as the principal source of the observed changes. In addition, careful attention to sample temperature during irradiation excludes thermal annealing as the origin of the effect. Proton bombardment at the same fluences produces scattering centers that are observed by small angle x-ray scattering. The concentration of scattering centers increases with proton fluence up to 10 16 cm -2 , but remains constant thereafter. The size of the centers remains constant at about 16 to 30 A. Possible structural changes to account for these observations are incipient recrystallization, void formation, and phosphorous segregation

Chemical physics of electroactive materials: concluding remarks.

Science.gov (United States)

Rutland, Mark W

2017-07-01

It is an honour to be charged with providing the concluding remarks for a Faraday Discussion. As many have remarked before, it is nonetheless a prodigious task, and what follows is necessarily a personal, and probably perverse, view of a watershed event in the Chemical Physics of Electroactive materials. The spirit of the conference was captured in a single sentence during the meeting itself."It is the nexus between rheology, electrochemistry, colloid science and energy storage". The current scientific climate is increasingly dominated by a limited number of global challenges, and there is thus a tendency for research to resemble a football match played by 6 year olds, where everyone on the field chases the (funding) ball instead of playing to their "discipline". It is thus reassuring to see how the application of rigorous chemical physics is leading to ingenious new solutions for both energy storage and harvesting, via, for example, nanoactuation, electrowetting, ionic materials and nanoplasmonics. In fact, the same language of chemical physics allows seamless transition between applications as diverse as mechano-electric energy generation, active moisture transport and plasmonic shutters - even the origins of life were addressed in the context of electro-autocatalysis!

Development of REI meetings (concluding remarks)

International Nuclear Information System (INIS)

Roessler, K.

1988-01-01

It is an honour and a pleasure to deliver the concluding remarks of this Fourth International Conference on Radiation Effects in Insulators. After commenting upon the present meeting, the genesis of REI conferences, their aims and position relative to related meetings in radiation and ion implantation research will be treated, particularly in order to inform new-comers. The development of the last four REI meetings will be discussed on the base of a statistical analysis. Some recommendations and an outlook of future trends will be given. (orig.)

Closing remarks

International Nuclear Information System (INIS)

Osborne, R.V.

1988-01-01

Where are the gaps in our current knowledge and what research is needed? One of my concerns was whether those of us in the radiation protection community have been thinking along the same lines as people in the field of toxicology. I think what has been evident that the problems and issues are very similar. Very evident common problems are those of extrapolation of observed toxic effects at high doses to predictions of effects at low doses; of the applicability of information obtained from one animal species to another; the public pressures to define risk (perhaps not pressures to define this goal as much as to define what is safe); the problems of multiple exposures; and the lack of money and resources to do all the things that it seems should be done. These are all problems familiar to us in the radiation protection community

The European Public Prosecutor's Office (EPPO): Introductory Remarks

NARCIS (Netherlands)

Vervaele, J.A.E.

2018-01-01

These introductory remarks deal with the reasons why the EPPO is perceived by some as a controversial body. These reasons are mirrored with the problem identification and the causes thereof. The size of EU fraud and related corruption and money laundering, both at the income and expenditure side, is

Remarkable resilience of teeth.

Science.gov (United States)

Chai, Herzl; Lee, James J-W; Constantino, Paul J; Lucas, Peter W; Lawn, Brian R

2009-05-05

Tooth enamel is inherently weak, with fracture toughness comparable with glass, yet it is remarkably resilient, surviving millions of functional contacts over a lifetime. We propose a microstructural mechanism of damage resistance, based on observations from ex situ loading of human and sea otter molars (teeth with strikingly similar structural features). Section views of the enamel implicate tufts, hypomineralized crack-like defects at the enamel-dentin junction, as primary fracture sources. We report a stabilization in the evolution of these defects, by "stress shielding" from neighbors, by inhibition of ensuing crack extension from prism interweaving (decussation), and by self-healing. These factors, coupled with the capacity of the tooth configuration to limit the generation of tensile stresses in largely compressive biting, explain how teeth may absorb considerable damage over time without catastrophic failure, an outcome with strong implications concerning the adaptation of animal species to diet.

Remarkable recoveries: research and practice from a patient's perspective.

Science.gov (United States)

Barasch, Marc Ian

2008-08-01

Mind-body therapies are often portrayed in the literature as self-palliative, adjunctive, and complementary, but rarely as contributive to cure. Many physicians continue to view them as acceptable indulgences so long as they are harmless and the patient remains fully compliant with a standard treatment regimen. The possibility that such modalities might help drive the healing process itself is infrequently acknowledged. This article addresses the topic of such therapies, examining remarkable recoveries in cancer, and suggesting the need for a "Remarkable Recovery Registry" to expand the literature on these cases. The author discusses the importance of complementary alternative medicine, and emotional and pyschologic support in the treatment regimen, and the need for health care providers and patients to work together to provide the best emotional environment for the healing process.

A Remarkable Recent Transition in the Solar Dynamo

NARCIS (Netherlands)

de Jager, C.; Akasofu, S.-I.; Duhau, S.; Livingston, W.C.; Nieuwenhuijzen, H.; Potgieter, M.S.

2016-01-01

We summarize the major aspects of the remarkable, fairly long lasting period(∼ 2005 to ∼ 2010) of low solar activity, that we will call the Transition. It is the transitionalstage between the Grand Maximum of the 20th century and a forthcoming (most probablyRegular) episode of solar activity. The

Editorial - a remark you made

Directory of Open Access Journals (Sweden)

Yngve Nordkvelle

2007-12-01

Full Text Available ”A remark you made” is the title of a wonderful tune by the famous jazz-rock group “Weather Report”, issued on the influential “Heavy weather” LP some 30 years ago. In an age where planning and rationalizing is the main issue in most contexts, whether it’s a matter of studying, teaching, doing research or using a diet, “A remark you made” is a symbol of attending to the unplanned, unforeseen and often, unwanted. In most accounts on cognitive development one is overtly focused on the manageable, on the predictable and expected, and not so attentive to the opposite. “A remark you made” makes us think again and reconsider what might be of value, in what we otherwise might neglect. A remark made by Terry Anderson at a conference last year (2006 was rather telling. Anderson is the renown distance educator from Athabasca University, Alberta Canada, and editor of our fellow e-journal “The International Review of Research in Open and Distance Learning”. I recite it here totally from my own memory, and I have never approached him to have it verified, falsified or commented. That doesn’t matter in this context. Standing on the podium, he lowered his voice and asked if any Danes were present in the room. There weren’t! Then he explained that his argument might be presented differently with Danes present: “You see – Danes seem to think that learning alone is no longer possible!” That remark caused quite a good laugh, not the least because any comment – good or bad – about fellow Scandinavians generally is considered to be a good joke. But it was also a comment on how not only distance education, or open and flexible learning, but learning theory in general is driven by the sociocultural learning theory, - and according to Anderson, particularly so in Denmark! Our first contribution in this issue is about the theory of media theory developed by one of our editors: Lars Qvortrup. Lars is now the rector of the Danish �

Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

Science.gov (United States)

Franco, E; Hodgson, S; Lench, N; Roberts, G J

1995-03-01

A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

The remarkable robustness of the first-offer effect: across culture, power, and issues.

Science.gov (United States)

Gunia, Brian C; Swaab, Roderick I; Sivanathan, Niro; Galinsky, Adam D

2013-12-01

The first-offer effect demonstrates that negotiators achieve better outcomes when making the first offer than when receiving it. The evidence, however, primarily derives from studies of Westerners without systematic power differences negotiating over one issue-contexts that may amplify the first-offer effect. Thus, the present research explored the effect across cultures, among negotiators varying in power, and in negotiations involving single and multiple issues. The first two studies showed that the first-offer effect remains remarkably robust across cultures and multi-issue negotiations. The final two studies demonstrated that low-power negotiators benefit from making the first offer across single- and multi-issue negotiations. The second and fourth studies used multi-issue negotiations with distributive, integrative, and compatible issues, allowing us to show that first offers operate through the distributive, not the integrative or compatible issues. Overall, these results reveal that moving first can benefit negotiators across many organizational and personal situations.

Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

Energy Technology Data Exchange (ETDEWEB)

Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

1993-05-01

The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

International Nuclear Information System (INIS)

Daya-Grosjean, Leela; Sarasin, Alain

2005-01-01

Xeroderma pigmentosum (XP), a rare hereditary syndrome, is characterized by a hypersensitivity to solar irradiation due to a defect in nucleotide excision repair resulting in a predisposition to squamous and basal cell carcinomas as well as malignant melanomas appearing at a very early age. The mutator phenotype of XP cells is evident by the higher levels of UV specific modifications found in key regulatory genes in XP skin tumors compared to those in the same tumor types from the normal population. Thus, XP provides a unique model for the study of unrepaired DNA lesions, mutations and skin carcinogenesis. The high level of ras oncogene activation, Ink4a-Arf and p53 tumor suppressor gene modifications as well as alterations of the different partners of the mitogenic sonic hedgehog signaling pathway (patched, smoothened and sonic hedgehog), characterized in XP skin tumors have clearly demonstrated the major role of the UV component of sunlight in the development of skin tumors. The majority of the mutations are C to T or tandem CC to TT UV signature transitions, occurring at bipyrimidine sequences, the specific targets of UV induced lesions. These characteristics are also found in the same genes modified in sporadic skin cancers but with lower frequencies confirming the validity of studying the XP model. The knowledge gained by studying XP tumors has given us a greater perception of the contribution of genetic predisposition to cancer as well as the consequences of the many alterations which modulate the activities of different genes affecting crucial pathways vital for maintaining cell homeostasis

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

Energy Technology Data Exchange (ETDEWEB)

Daya-Grosjean, Leela [Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, IFR 54, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex (France)]. E-mail: daya@igr.fr; Sarasin, Alain [Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, IFR 54, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex (France)

2005-04-01

Xeroderma pigmentosum (XP), a rare hereditary syndrome, is characterized by a hypersensitivity to solar irradiation due to a defect in nucleotide excision repair resulting in a predisposition to squamous and basal cell carcinomas as well as malignant melanomas appearing at a very early age. The mutator phenotype of XP cells is evident by the higher levels of UV specific modifications found in key regulatory genes in XP skin tumors compared to those in the same tumor types from the normal population. Thus, XP provides a unique model for the study of unrepaired DNA lesions, mutations and skin carcinogenesis. The high level of ras oncogene activation, Ink4a-Arf and p53 tumor suppressor gene modifications as well as alterations of the different partners of the mitogenic sonic hedgehog signaling pathway (patched, smoothened and sonic hedgehog), characterized in XP skin tumors have clearly demonstrated the major role of the UV component of sunlight in the development of skin tumors. The majority of the mutations are C to T or tandem CC to TT UV signature transitions, occurring at bipyrimidine sequences, the specific targets of UV induced lesions. These characteristics are also found in the same genes modified in sporadic skin cancers but with lower frequencies confirming the validity of studying the XP model. The knowledge gained by studying XP tumors has given us a greater perception of the contribution of genetic predisposition to cancer as well as the consequences of the many alterations which modulate the activities of different genes affecting crucial pathways vital for maintaining cell homeostasis.

Some Remarks on Stability of Generalized Equations

Czech Academy of Sciences Publication Activity Database

Outrata, Jiří; Henrion, R.; Kruger, A.Y.

2013-01-01

Roč. 159, č. 3 (2013), s. 681-697 ISSN 0022-3239 R&D Projects: GA AV ČR IAA100750802; GA ČR(CZ) GAP201/12/0671 Institutional support: RVO:67985556 Keywords : Parameterized generalized equation * Regular and limiting coderivative * Constant rank CQ * Mathematical program with equilibrium constraints Subject RIV: BA - General Mathematics Impact factor: 1.406, year: 2013 http://library.utia.cas.cz/separaty/2013/MTR/outrata-some remarks on stability of generalized equations.pdf

Collisionless shocks and upstream waves and particles: Introductory remarks

International Nuclear Information System (INIS)

Kennel, C.F.

1981-01-01

We discuss more aspects of collisionless shock theory that might be pertinent to the problem of upstream waves and particles. It is hoped that our qualititive remarks may be a useful guide for the general reader as he goes through the detailed papers to come

Some remarks on electron scattering in a laser field

International Nuclear Information System (INIS)

Ehlotzky, F.

1988-01-01

Potential scattering of electrons in a quantized radiation field is reconsidered. Some remarks are made on the validity of the Kroll-Watson scattering formula and on the close connection of this formula with the classical transition rate of scattering in a radiation field. (17 refs.)

Some remarks on the statistical model of heavy ion collisions

International Nuclear Information System (INIS)

Koch, V.

2003-01-01

This contribution is an attempt to assess what can be learned from the remarkable success of this statistical model in describing ratios of particle abundances in ultra-relativistic heavy ion collisions

Remarkable separability of circulation response to Arctic sea ice loss and greenhouse gas forcing

Science.gov (United States)

McCusker, K. E.; Kushner, P. J.; Fyfe, J. C.; Sigmond, M.; Kharin, V. V.; Bitz, C. M.

2017-08-01

Arctic sea ice loss may influence midlatitude climate by changing large-scale circulation. The extent to which climate change can be understood as greenhouse gas-induced changes that are modulated by this loss depends on how additive the responses to the separate influences are. A novel sea ice nudging methodology in a fully coupled climate model reveals that the separate effects of doubled atmospheric carbon dioxide (CO2) concentrations and associated Arctic sea ice loss are remarkably additive and insensitive to the mean climate state. This separability is evident in several fields throughout most of the year, from hemispheric to synoptic scales. The extent to which the regional response to sea ice loss sometimes agrees with and sometimes cancels the response to CO2 is quantified. The separability of the responses might provide a means to better interpret the diverse array of modeling and observational studies of Arctic change and influence.

Some concluding remarks about cold moderator development

International Nuclear Information System (INIS)

Carpenter, J.M.

1990-01-01

This paper is the transcription of remarks made at the conclusion of the Workshop on Cold Neutron Sources held at the Los Angeles National Laboratory, Los Alamos, New Mexico, March 5--7, 1990. Areas of interest include the following: scattering functions; cold moderator materials; radiation mixing of chemical composition; comparison of some pulsed moderator spectra; hydrogen mixtures; premoderators and shields; composite reflectors; exotic moderator materials; deuterated methanes; mixed moderator materials; and test facility availabilities. 2 refs., 4 figs., 1 tab

Spectroscopic and asteroseismic analysis of the remarkable main-sequence A star KIC 11145123

Science.gov (United States)

Takada-Hidai, Masahide; Kurtz, Donald W.; Shibahashi, Hiromoto; Murphy, Simon J.; Takata, Masao; Saio, Hideyuki; Sekii, Takashi

2017-10-01

A spectroscopic analysis was carried out to clarify the properties of KIC 11145123 - the first main-sequence star with a directly measured core-to-surface rotation profile - based on spectra observed with the High Dispersion Spectrograph (HDS) of the Subaru telescope. The atmospheric parameters (Teff = 7600 K, log g = 4.2, ξ = 3.1 km s-1 and [Fe/H] = -0.71 dex), the radial and rotation velocities, and elemental abundances were obtained by analysing line strengths and fitting line profiles, which were calculated with a 1D LTE model atmosphere. The main properties of KIC 11145123 are: (1) a low [Fe/H] = -0.71 ± 0.11 dex and a high radial velocity of -135.4 ± 0.2 km s-1. These are remarkable among late-A stars. Our best asteroseismic models with this low [Fe/H] have slightly high helium abundance and low masses of 1.4 M⊙. All of these results strongly suggest that KIC 11145123 is a Population II blue straggler; (2) the projected rotation velocity confirms the asteroseismically predicted slow rotation of the star; (3) comparisons of abundance patterns between KIC 11145123 and Am, Ap, and blue stragglers show that KIC 11145123 is neither an Am star nor an Ap star, but has abundances consistent with a blue straggler. We conclude that the remarkably long 100-d rotation period of this star is a consequence of it being a blue straggler, but both pathways for the formation of blue stragglers - merger and mass loss in a binary system - pose difficulties for our understanding of the exceedingly slow rotation. In particular, we show that there is no evidence of any secondary companion star, and we put stringent limits on the possible mass of any such purported companion through the phase modulation technique.

Some remarks on a scenario of supersymmetry in quantum mechanics

International Nuclear Information System (INIS)

Jannussis, A.; Tsohantzis, I; Vavougios, D.

1990-01-01

Some remarks are given on a recent paper of Lahiri, Kumar Roy and Bagchi who have constructed a scenario of supersymmetry in quantum mechanics by imposing a structure on the raising and lowering operators

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

Science.gov (United States)

Sims, K B; Lebo, R V; Benson, G; Shalish, C; Schuback, D; Chen, Z Y; Bruns, G; Craig, I W; Golbus, M S; Breakefield, X O

1992-05-01

Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.

Remarks on the low value obtained for the Hubble constant

International Nuclear Information System (INIS)

Jaakkola, Toivo

1975-01-01

Some remarks are made on the basis of the data given by Sandage and Tamman, suggesting that these authors have over-estimated the distances to the most luminous galaxies and obtained a value too low for the Hubble constant [fr

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

Science.gov (United States)

Sethi, M; Lehmann, A R; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; McGibbon, D; Sarkany, R; Fassihi, H

2013-12-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. © 2013 British Association of

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

Science.gov (United States)

Zhou, Eray Yihui; Wang, Huijun; Lin, Zhimiao; Xu, Guiwen; Ma, Zhihong; Zhao, Jiahui; Feng, Cheng; Duo, Lina; Yin, Jinghua; Yang, Yong

2017-01-01

Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle-like pigmentation on sun-exposed sites while patients with XP-A, XP-D, XP-F and XP-G showed acute sunburn reactions. Only XP-A patients displayed progressive neurological degeneration. A relatively larger proportion of XP-A and XP-C were found in Chinese XP patients. One XP case and two carriers were prenatally determined. This study extended the mutation spectrum of XP in China and may aid in the diagnosis and treatment of Chinese XP patients. © 2016 Japanese Dermatological Association.

Discussant Remarks on Session: Statistical Aspects of Measuring the Internet

Energy Technology Data Exchange (ETDEWEB)

Cottrell, Les

1999-04-02

These remarks will briefly summarize what we learn from the talks in this session, and add some more areas in Internet Measurement that may provide challenges for statisticians. It will also point out some reasons why statisticians may be interested in working in this area.

Some remarks on word formation in Danish

DEFF Research Database (Denmark)

Götzsche, Hans

Abstract for the 25th Scandinavian Conference of Linguistics Some remarks on wordformation in Danish Some Danish word formation phenomena pose a problem for the linguist, being a predicament for analysis. In Danish a train leaves the station when it afgår ‘leaves’, while a minister may gå af......, there are some patterns for these Danish compounds concerning their internal semantics, in that the same lexical items may be used for different purposes depending on whether they are formed as a straightforward linear sequence (a word formation) or a reversed sequence (a phrase). The problem is (i) how the two...

Introductory remarks

International Nuclear Information System (INIS)

Pecker, J.-C.; Runcorn, S.K.

1990-01-01

The search for periodic or quasi-periodic variations in the solar constant through the analysis of climatic and meteorological data has proved elusive. The reason is evident: the atmosphere is a wet gas with much energy stored as latent heat and is in complex interaction dynamically and thermally with the oceans and land areas. The instabilities, what we call the weather, cause not only day-to-day but also year-to-year variations so great that small changes due to fluctuations of the energy input from the Sun may be masked. Yet, as the seasonal changes of solar energy falling on each hemisphere result in such obvious effects, it should not be impossible to detect in the climatic records much smaller changes in the total global input of heat energy into the atmosphere, especially if these are cyclical, by integrating out short-term fluctuations. Terrestrial phenomena which might be associated with solar behaviour such as tree-ring growth, drought, heavy rains, air temperature are of great interest. There is evidence from these sources of longer cycles of solar activity which may have a period of between 100 and 200 years but with the data available this is difficult to prove. The issue is complicated by variations in geomagnetic activity. A new source of information on solar activity is the spectrum of 14 C variations from during the past millenia from tree rings and this has prompted further studies of variations in the sun and climate to be undertaken. (author)

Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.

Science.gov (United States)

Zhang, Jia; Cheng, Ruhong; Yu, Xia; Sun, Zhonghui; Li, Ming; Yao, Zhirong

2017-01-01

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes. All of the pathogenic mutations were identified by mutational analysis, including four novel mutations. Our study successfully identified the pathogenic mutations in six XP patients (three XP-A, one XP-G, one XP-V, and a rare XP-D group in Chinese population). We reviewed the reported XP cases with mutations in the Chinese population and concluded that four complementation groups (XP-A, XP-C, XP-G, and XP-V) that occupy the major proportion should be considered as a first step in genetic detection (especially, XPA is the most common group, and unlike in other populations, XP-G is not rare in the Chinese population). Moreover, XP-D and XP-F, two rare subgroups, should also be added for further mutational analysis. Further, we provide some information for Chinese dermatologists that, when an early diagnosis is made, XP-C and XP-V patients can have relatively good prognoses. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Terahertz radiation generation by lasers with remarkable efficiency in electron–positron plasma

International Nuclear Information System (INIS)

Malik, Hitendra K.

2015-01-01

Photo-mixing of spatial-super-Gaussian lasers and electron–positron plasma are proposed for realizing a large amplitude nonlinear current in order to generate an efficient terahertz radiation. An external magnetic field together with a proper index of the lasers helps achieving controllable current and hence, the focused radiation of tunable frequency and power along with a remarkable efficiency of the scheme as ∼6%. - Highlights: • First proposal of photo-mixing of spatial-super-Gaussian (SSG) lasers in electron–positron (e–p) plasma. • Large amplitude nonlinear current due to the contribution of both the plasma species. • Magnetic field as an additional parameter for tunable THz radiation with a remarkable efficiency of ∼6%.

The impact of football point systems on the competitive balance: evidence from some european football leagues

OpenAIRE

Ferda Halicioglu

2006-01-01

Introduction - 1 Outcome of uncertainty and competitive balance in professional team sports - 2 Measurement of competitive balance in professional team sports - 3 Football point systems and competitive balance: empirical evidence - 4. Concluding remarks

Remarks on Hamiltonian structures in G2-geometry

International Nuclear Information System (INIS)

Cho, Hyunjoo; Salur, Sema; Todd, A. J.

2013-01-01

In this article, we treat G 2 -geometry as a special case of multisymplectic geometry and make a number of remarks regarding Hamiltonian multivector fields and Hamiltonian differential forms on manifolds with an integrable G 2 -structure; in particular, we discuss existence and make a number of identifications of the spaces of Hamiltonian structures associated to the two multisymplectic structures associated to an integrable G 2 -structure. Along the way, we prove some results in multisymplectic geometry that are generalizations of results from symplectic geometry

Remarks on the thermopreferendum of palearctic bats in their natural habitats

NARCIS (Netherlands)

Gaisler, Jiří

1970-01-01

This contribution comprises two remarks of ecological rather than physiological character. Contrary to Herter (1952), Herreid (1967), and Harmata (1969), I did not examine the temperature preference, or thermopreferendum, of bats under experimental conditions but concluded on it only on grounds of

Remarkable Women in a Remarkable Age. On the Genesis of the English Public Sphere, 1642-1752

Directory of Open Access Journals (Sweden)

Eleonora Cappuccilli

2015-06-01

Full Text Available During the era of the English Revolutions and shortly after that, some spaces, albeit limited, of female visibility open up. Thanks to the window of opportunity caused by the collapse of censorship, the participation in the radical sects and in the Civil war, some remarkable women succeed in introducing themselves in the public sphere, shaping it since its very genesis. Moreover, analysing law institutions as jointure and feoffment, the attempt is to reconstruct some fragments of juridical female autonomy, which belie the total pervasiveness of coverture in the XVII century. As in private law, in public law women, in the role of queens, gain centrality: the principle of female authority, while safeguards the holding of the monarchical regime, destabilizes its patriarchal structure. Going through the works of Katherine Chidley, Margaret Cavendish, Damaris Masham and Mary Astell, the essay aims at reconstructing women's public voice, a voice which upsets the consolidated frames and subverts the established positions, questioning the same social hierarchies.

The impacts of football point systems on the competitive balance: evidence from some European footbal leagues

OpenAIRE

HALICIOGLU, Ferda

2006-01-01

Introduction. – 1. Outcome of uncertainty and competitive balance in professional team sports. – 2. Measurement of competitive balance in professional team sports. – 3. Football point systems and competitive balance: empirical evidence . – 4. Some concluding remarks.

Exploring the Role of Conventionality in Children's Interpretation of Ironic Remarks

Science.gov (United States)

Burnett, Debra L.

2015-01-01

Irony comprehension in seven- and eight-year-old children with typically developing language skills was explored under the framework of the graded salience hypothesis. Target ironic remarks, either conventional or novel/situation-specific, were presented following brief story contexts. Children's responses to comprehension questions were used to…

Remarks of the SFRP working group about ICRP recommendations

International Nuclear Information System (INIS)

Schieber, C.; Cordoliani, Y.S.

2005-01-01

Remarks of the SFRP working group about ICRP recommendations. The International Commission on Radiological Protection has proposed last summer on its Web site the draft text of the 2005 ICRP recommendations for consultation. As it was done for the previous drafts, the French Society for Radiation Protection, has sent his comments to the ICRP, through a specific working group. The text sent to the ICRP is presented here to the readers of the SFRP's Journal. (author)

Remarkable convergent evolution in specialized parasitic Thecostraca (Crustacea)

DEFF Research Database (Denmark)

Pérez-Losada, Marcos; Høeg, Jens Thorvald; Crandall, Keith A

2009-01-01

the metamorphosis found in the Facetotecta and Rhizocephala suggests a common evolutionary origin, but until now no comprehensive study has looked at the basic evolution of these thecostracan groups. Results To this end, we collected DNA sequences from three nuclear genes [18S rRNA (2,305), 28S rRNA (2...... analyses indicate a convergent evolution of the very similar and highly reduced slug-shaped stages found during metamorphosis of both the Rhizocephala and the Facetotecta. This provides a remarkable case of convergent evolution and implies that the advanced endoparasitic mode of life known from...

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Science.gov (United States)

Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.

2016-01-01

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins. PMID:26884178

Remarks about the displaced spectra techniques

International Nuclear Information System (INIS)

Behringer, K.; Pineyro, J.

1989-01-01

In a recent paper a new method, called displaced spectra techniques, was presented for distinguishing between sinusoidal components and narrowband random noise contributions in otherwise random noise data. It is based on Fourier transform techniques, and uses the power spectral density (PSD) and a newly-introduced second-order displaced power spectra density (SDPSD) function. In order to distinguish between the two peak types, a validation criterion has been established. In this note, three topics are covered: a) improved numerical data for the validation criterion are given by using the refined estimation procedure of the PSD and SDPSD functions by the Welch method; b) the validation criterion requires the subtraction of the background below the peaks. A semiautomatic procedure is described; c) it was observed that peaks in the real part of the SDPSD function can be accompanied by fine structure phenomena which are unresolved in the PSD function. A few remarks are made about this problem. (author)

Remark on the gravitational field produced by an infinite straight string

International Nuclear Information System (INIS)

Francisco, G.; Matsas, G.E.A.

1989-01-01

The results predicted by Newtonian gravity and general relativity are compared regarding the field produced by an infinite gauge string with constant density λ. A simple gedankenexperiment is suggested to stress the remarkable differences between these two theories. The existence of the usual Newtonian limit is discussed in this case

Teachers' Remarks about Their Salaries in 1800 in the Helvetic Republic

Science.gov (United States)

Brühwiler, Ingrid

2015-01-01

For centuries, teachers have complained about their salaries. In the Stapfer inquiry of 1799, some teachers made remarks about financial issues, particularly their low incomes. This inquiry is the main source for the arguments presented here regarding teachers' low salary during this period of the Helvetic Republic. The disparity between the…

Expression of matrix metalloproteinase-13 and Ki-67 in nonmelanoma skin cancer in xeroderma pigmentosum and non-xeroderma pigmentosum.

Science.gov (United States)

El-Hawary, Amira K; Yassin, Eman; Khater, Ashraf; Abdelgaber, Soheir

2013-02-01

Xeroderma pigmentosum (XP) is a heterogenous group of genetic diseases in which basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer (NMSC) followed by squamous cell carcinoma (SCC). The aim of this study was to investigate the expression of matrix metalloproteinase (MMP)-13 and Ki-67 in SCC and BCC from patients with and without XP to elucidate their roles in the pathogenesis of these highly aggressive tumors in patients with XP. Immunolabeling using MMP-13 and Ki-67 antibodies was performed on tissue sections derived from skin biopsies of SCC and BCC of 15 patients with XP and 40 non-XP patients. There was no significant difference between XP and non-XP patients as regards MMP-13 expression by epithelial and stromal cells of SCC or BCC. Ki-67 expression in SCC and BCC of patients with XP was significantly higher than in non-XP patients. We concluded that the higher expression of Ki-67 in NMSC of patients with XP than of non-XP patients may reflect the growth and invasive capacity of these tumors in patients with XP. MMP-13 is expressed by tumor epithelial cells, stromal and inflammatory cells of NMSC of both XP and non-XP patients.

Unbound color, prefaced by remarks on baryon spectroscopy

International Nuclear Information System (INIS)

Greenberg, O.W.

Theoretical and experimental issues related to the possibility that color is unbound are surveyed. This implies that quarks, gluons and other particles carrying color can exist as isolated objects. It is surprisingly difficult to distinguish models with unbound color from those in which color is permanently confined. None-the-less, the present situation seems discouraging for unbound color because there is no unambiguous support for it and because the crucial prediction of formation of a colored gluon in e + e - collisions has been ruled out wherever sufficient data exists. The above survey is prefaced by remarks on the symmetric quark model for baryon spectroscopy

Remarks on the 'Grenelle Environnement' portfolio of measures

International Nuclear Information System (INIS)

2009-01-01

The Boston Consulting Group has presented its remarks on the economic impact of the portfolio of measures issued from the 'Grenelle de l'Environnement' workshop that was held in France and involved people with a variety of backgrounds (government representatives, politicians, companies, professional syndicates, NGOs, scientists and university professors, etc.). These measures (covering sectors such as agriculture, biodiversity, wastes, renewable energies, transport, buildings, risk prevention, etc.) are said to potentially generate 450 billions Euros of economic activities and 600,000 jobs during 12 years. Their direct impacts on the environment would be a 14 percent reduction in greenhouse gases between 2010 and 2020. Concerning renewable energies, investment focusing is suggested

Remarkable rates of lightning strike mortality in Malawi.

Science.gov (United States)

Mulder, Monique Borgerhoff; Msalu, Lameck; Caro, Tim; Salerno, Jonathan

2012-01-01

Livingstone's second mission site on the shore of Lake Malawi suffers very high rates of consequential lightning strikes. Comprehensive interviewing of victims and their relatives in seven Traditional Authorities in Nkhata Bay District, Malawi revealed that the annual rate of consequential strikes was 419/million, more than six times higher than that in other developing countries; the rate of deaths from lightning was 84/million/year, 5.4 times greater than the highest ever recorded. These remarkable figures reveal that lightning constitutes a significant stochastic source of mortality with potential life history consequences, but it should not deflect attention away from the more prominent causes of mortality in this rural area.

Remarks on search methods for stable, massive, elementary particles

International Nuclear Information System (INIS)

Perl, Martin L.

2001-01-01

This paper was presented at the 69th birthday celebration of Professor Eugene Commins, honoring his research achievements. These remarks are about the experimental techniques used in the search for new stable, massive particles, particles at least as massive as the electron. A variety of experimental methods such as accelerator experiments, cosmic ray studies, searches for halo particles in the galaxy and searches for exotic particles in bulk matter are described. A summary is presented of the measured limits on the existence of new stable, massive particle

Influence of incident light wavelength on time jitter of fast photomultipliers

International Nuclear Information System (INIS)

Moszynski, M.; Vacher, J.

1977-01-01

The study of the single photoelectron time resolution as a function of the wavelength of the incident light was performed for a 56 CVP photomultiplier having an S-1 photocathode. The light flash from the XP22 light emitting diode generator was passed through passband filters and illuminated the 5 mm diameter central part of the photocathode. A significant increase of the time resolution above 30% was observed when the wavelength of the incident light was changed from 790 nm to 580 nm. This gives experimental evidence that the time jitter resulting from the spread of the initial velocity of photoelectrons is proportional to the square root of the maximal initial energy of photoelectrons. Based on this conclusion the measured time jitter of C31024, RCA8850 and XP2020 photomultipliers with the use of the XP22 light emitting diode at 560 nm light wavelength was recalculated to estimate the time jitter at 400 nm near the maximum of the photocathode sensitivity. It shows an almost twice larger time spread at 400 nm for the C31024 and RCA8850 with a high gain first dynode and an about 1.5 times larger time spread for the XP2020 photomultiplier, than those measured at 560 nm. (Auth.)

The cyclopurine deoxynucleosides: DNA repair, biological effects, mechanistic insights, and unanswered questions.

Science.gov (United States)

Brooks, Philip J

2017-06-01

Patients with the genetic disease xeroderma pigmentosum (XP) who lack the capacity to carry out nucleotides excision repair (NER) have a dramatically elevated risk of skin cancer on sun exposed areas of the body. NER is the DNA repair mechanism responsible for the removal of DNA lesions resulting from ultraviolet light. In addition, a subset of XP patients develop a progressive neurodegenerative disease, referred to as XP neurologic disease, which is thought to be the result of accumulation of endogenous DNA lesions that are repaired by NER but not other repair pathways. The 8,5-cyclopurine deoxynucleotides (cyPu) have emerged as leading candidates for such lesions, in that they result from the reaction of the hydroxyl radical with DNA, are strong blocks to transcription in human cells, and are repaired by NER but not base excision repair. Here I present a focused perspective on progress into understating the repair and biological effects of these lesions. In doing so, I emphasize the role of Tomas Lindahl and his laboratory in stimulating cyPu research. I also include a critical evaluation of the evidence supporting a role for cyPu lesions in XP neurologic disease, with a focus on outstanding questions, and conceptual and technologic challenges. Copyright © 2017. Published by Elsevier Inc.

Adiabatic analysis of collisions. III. Remarks on the spin model

International Nuclear Information System (INIS)

Fano, U.

1979-01-01

Analysis of a spin-rotation model illustrates how transitions between adiabatic channel states stem from the second, rather than from the first, rate of change of these states, provided that appropriate identification of channels and scaling of the independent variable are used. These remarks, like the earlier development of a post-adiabatic approach, aim at elucidating the surprising success of approximate separation of variables in the treatment of complex mechanical systems

Towards evidence-based critical thinking medicine? Uses of best evidence in flawless argumentations.

Science.gov (United States)

Jenicek, Milos

2006-08-01

Uses of informal logic and critical thinking methodology are increasingly taught, learnt and advantageously applied in such diverse domains as law, the military, business, and education. Health sciences are also following this trend. However, production and critical appraisal of evidence as already practiced in Evidence-Based Medicine must be coupled with equally rigorous uses in order to ensure appropriate health problem understanding and decision-making. Making most proposals and decisions in medicine is the conclusion of an argumentation process that lies behind any communication between health professionals working with patients, performing research or sharing ideas about health problems, their interpretations and solutions with numerous stakeholders in public life. Modern critical thinking and decision making in medicine is not instantly mastered, but is instead a learnt experience as anything else in professional and social interactions. The modern argument as outlined, illustrated and applied to health problems in this essay is an extension of a previously established way of thinking in Evidence-Based Medicine. Ideally, health professionals, their patients and all other stakeholders should speak the same language and it is up to us to make this possible. Evidence and critical thinking - based medicine might be a solution. As modern critical thinkers, we are at the forefront and we must see to it that patients and professional and general communities benefit from this more so even than from other remarkable historical and current contributions to the well-being of those under our care.

Apically Extruded Debris during Root Canal Instrumentation with Reciproc Blue, HyFlex EDM, and XP-endo Shaper Nickel-titanium Files.

Science.gov (United States)

Uslu, Gülşah; Özyürek, Taha; Yılmaz, Koray; Gündoğar, Mustafa; Plotino, Gianluca

2018-05-01

The purpose of this study was to investigate the amount of apically extruded debris by Reciproc Blue (REC Blue; VDW, Munich, Germany), HyFlex EDM (HEDM; Coltene/Whaledent, Altstätten, Switzerland), and XP-endo Shaper (XPS; FKG Dentaire SA, La Chaux-de-Fonds, Switzerland) files during root canal preparation at body temperature. Sixty extracted single-rooted mandibular premolar human teeth were randomly assigned to 3 groups (n = 20). The canals were instrumented using 1 of the following instruments: REC Blue, HEDM, or XPS. Apically extruded debris during instrumentation was collected into preweighed Eppendorf tubes. All the procedures were performed at 35°C. The amount of extruded debris was calculated by subtracting the weight value of the tooth-free apparatus from the postpreparation weight value. The data were analyzed using the Kruskal-Wallis test at a 5% significance level. All the instruments tested caused extrusion of some debris from the apical foramen. XPS extruded significantly less debris from the apex than REC Blue (P  .05). Within the limitations of this in vitro study, the amount of apically extruded debris registered for the different files tested was REC Blue > HEDM > XPS, with a statistical difference only between XPS and REC Blue. Copyright © 2018 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Remarkable Computing - the Challenge of Designing for the Home

DEFF Research Database (Denmark)

Petersen, Marianne Graves

2004-01-01

The vision of ubiquitous computing is floating into the domain of the household, despite arguments that lessons from design of workplace artefacts cannot be blindly transferred into the domain of the household. This paper discusses why the ideal of unremarkable or ubiquitous computing is too narrow...... with respect to the household. It points out how understanding technology use, is a matter of looking into the process of use and on how the specific context of the home, in several ways, call for technology to be remarkable rather than unremarkable....

Some remarks about large p/sub perpendicular/ spin effects

International Nuclear Information System (INIS)

Field, R.D.

1977-01-01

A discussion of the ingredients necessary to make predictions concerning single and double spin measurements in large p/sub perpendicular to/ inclusive processes is presented. Remarks are made as to what might be expected and what might be learned from such measurements. Various models for the production of large p/sub perpendicular to/ mesons have quite different spin structure and hence can be expected to give differing predictions. However, it is not possible at this time to make quantitative calculations, and it is possible (not probable) that the interesting spin observables will be negligibly small

The parallel processing of EGS4 code on distributed memory scalar parallel computer:Intel Paragon XP/S15-256

Energy Technology Data Exchange (ETDEWEB)

Takemiya, Hiroshi; Ohta, Hirofumi; Honma, Ichirou

1996-03-01

The parallelization of Electro-Magnetic Cascade Monte Carlo Simulation Code, EGS4 on distributed memory scalar parallel computer: Intel Paragon XP/S15-256 is described. EGS4 has the feature that calculation time for one incident particle is quite different from each other because of the dynamic generation of secondary particles and different behavior of each particle. Granularity for parallel processing, parallel programming model and the algorithm of parallel random number generation are discussed and two kinds of method, each of which allocates particles dynamically or statically, are used for the purpose of realizing high speed parallel processing of this code. Among four problems chosen for performance evaluation, the speedup factors for three problems have been attained to nearly 100 times with 128 processor. It has been found that when both the calculation time for each incident particles and its dispersion are large, it is preferable to use dynamic particle allocation method which can average the load for each processor. And it has also been found that when they are small, it is preferable to use static particle allocation method which reduces the communication overhead. Moreover, it is pointed out that to get the result accurately, it is necessary to use double precision variables in EGS4 code. Finally, the workflow of program parallelization is analyzed and tools for program parallelization through the experience of the EGS4 parallelization are discussed. (author).

Diagnosis of eight groups of xeroderma pigmentosum by genetic complementation using recombinant adenovirus vectors.

Science.gov (United States)

Yamashita, Toshiharu; Okura, Masae; Ishii-Osai, Yasue; Hida, Tokimasa

2016-10-01

Because patients with xeroderma pigmentosum (XP) must avoid ultraviolet (UV) light from an early age, an early diagnosis of this disorder is essential. XP is composed of seven genetic complementation groups, XP-A to -G, and a variant type (XP-V). To establish an easy and accurate diagnosis of the eight disease groups, we constructed recombinant adenoviruses that expressed one of the XP cDNA. When fibroblasts derived from patients with XP-A, -B, -C, -D, -F or -G were infected with the adenovirus expressing XPA, XPB, XPC, XPD, XPF or XPG, respectively, and UV-C at 5-20 J/m 2 was irradiated, cell viability was clearly recovered by the corresponding recombinant adenoviruses. In contrast, XP-E and XP-V cells were not significantly sensitive to UV irradiation and were barely complemented by the matched recombinant adenoviruses. However, co-infection of Ad-XPA with Ad-XPE increased survival rate of XP-E cells after UV-C exposure. When XP-V cell strains, including one derived from a Japanese patient, were infected with Ad-XPV, exposed to UV-B and cultured with 1 mmol/L of caffeine, flow cytometry detected a characteristic decrease in the S phase in all the XP-V cell strains. From these results, the eight groups of XP could be differentiated by utilizing a set of recombinant adenoviruses, indicating that our procedure provides a convenient and correct diagnostic method for all the XP groups including XP-E and XP-V. © 2016 Japanese Dermatological Association.

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

Science.gov (United States)

Sun, Z; Zhang, J; Guo, Y; Ni, C; Liang, J; Cheng, R; Li, M; Yao, Z

2015-04-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population. To investigate the mutational spectrum of XP in a Chinese Han population, to discover any genotype-phenotype correlation and, consequently, to propose a simple and effective tool for the molecular diagnosis of XP. This study was carried out on 12 unrelated Chinese families that included 13 patients with clinically suspected XP. Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of eight XP genes. In 12 patients, direct sequencing of the whole coding region of eight XP genes revealed pathogenic mutations, including seven compound heterozygous mutations, three homozygous mutations and a Japanese founder mutation. Thirteen mutations have not been previously identified. This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (XPA) and three with XP-V (POLH). This study identified 13 novel mutations and extended the mutation spectrum of XP in the Chinese Han population. In this cohort, we found that patients with XP-G have no neurological symptoms, and patients with XP-A and XP-V have a high incidence of malignancy. Furthermore, lack of stringent protection against sunlight, late diagnosis and long duration of disease play an important role. © 2014 British Association of Dermatologists.

Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F

International Nuclear Information System (INIS)

Yagi, T.; Tatsumi-Miyajima, J.; Sato, M.; Kraemer, K.H.; Takebe, H.

1991-01-01

To assess the contribution to mutagenesis by human DNA repair defects, a UV-treated shuttle vector plasmid, pZ189, was passed through fibroblasts derived from Japanese xeroderma pigmentosum (XP) patients in two different DNA repair complementation groups (A and F). Patients with XP have clinical and cellular UV hypersensitivity, increased frequency of skin cancer, and defects in DNA repair. The XP DNA repair defects represented by complementation groups A (XP-A) and F (XP-F) are more common in Japan than in Europe or the United States. In comparison to results with DNA repair-proficient human cells (W138-VA13), UV-treated pZ189 passed through the XP-A [XP2OS(SV)] or XP-F [XP2YO(SV)] cells showed fewer surviving plasmids (XP-A less than XP-F) and a higher frequency of mutated plasmids (XP-A greater than XP-F). Base sequence analysis of more than 200 mutated plasmids showed the major type of base substitution mutation to be the G:C----A:T transition with all three cell lines. The XP-A and XP-F cells revealed a higher frequency of G:C----A:T transitions and a lower frequency of transversions among plasmids with single or tandem mutations and a lower frequency of plasmids with multiple point mutations compared to the normal line. The spectrum of mutations in pZ189 with the XP-A cells was similar to that with the XP-F cells. Seventy-six to 91% of the single base substitution mutations occurred at G:C base pairs in which the 5'-neighboring base of the cytosine was thymine or cytosine. These studies indicate that the DNA repair defects in Japanese XP patients in complementation groups A and F result in different frequencies of plasmid survival and mutagenesis but in similar types of mutagenic abnormalities despite marked differences in clinical features

The end of a remarkable era

CERN Multimedia

2011-01-01

An important era in particle physics is coming to an end: the US Department of Energy announced on Monday that it will not fund an extension to Tevatron running beyond 2011. It is a poignant moment for particle physics as we prepare to bid farewell to a machine that has changed our view of the Universe, and played a significant role in paving the way for the new era that is opening up with the LHC.   The Tevatron has been at the high-energy frontier of particle physics for over a quarter of a century. That’s a remarkable achievement by any account, and the physics results are there to prove it. As well as bringing us the discovery of the top quark in 1995, the Tevatron’s experiments have provided vitally important precision measurements covering the full spectrum of Standard Model physics, not to mention hints of what may lie beyond. With several months of running still to come, it would be a foolish gambler who bet against further new physics emerging before the Teva...

Concluding remarks of international symposium on highly excited states in nuclear reactions

Energy Technology Data Exchange (ETDEWEB)

Bernstein, A. M.; Ikegami, H.; Muraoka, M. [eds.

1980-01-01

This is the concluding remarks in the international symposium on highly excited states in nuclear reactions. The remarks concentrate on the giant quadrupole states. In the framework of the distorted wave Born approximation (DWB), the differential cross section can be deduced. The relevant transition matrix elements are defined, and the quantities which are measured in inelastic hadron (h, h') reactions are shown. These are used to obtain both neutron and proton transition multipole matrix elements. This is equivalent to make the isospin decomposition of the electromagnetic transition matrix elements. The ratios of the transition matrix elements of neutrons and protons of the lowest 2/sup +/ states in even-even single closed shell nuclei are evaluated and compared with experimental results. For each nucleus, the consistency between various measurements is generally good. The effect of the virtual excitation of giant 2/sup +/ states into the ground and first excited states of even-even nuclei is discussed. The accuracy of (h, h') results can be tested.

Superficial characterization by XP S of silver nanoparticles and their hydrothermal deposit over zircaloy; Caracterizacion superficial por XPS de nanoparticulas de plata y su deposito hidrotermal sobre zircaloy

Energy Technology Data Exchange (ETDEWEB)

Contreras R, A.; Gutierrez W, C.; Martinez M, I.; Medina A, A. L., E-mail: aida.contreras@inin.gob.mx [ININ, Departamento de Tecnologia de Materiales, Carretera Mexico-Toluca s/n, 52750 Ocoyoacac, Estado de Mexico (Mexico)

2012-10-15

The analysis technique of X-ray photoelectron spectroscopy (XP S) is sensitive exclusively to the first layers of the solids surface, which allows obtaining information about the chemical, physical and electronic properties of them. The combustible elements of the boiling water nuclear reactors (BWR) are formed by zircaloy pipes that contain in their interior pellets or uranium dioxide. In this work is studied the zircaloy surface, oxidized zircaloy under similar conditions to those of a reactor BWR type and oxidized zircaloy with a hydrothermal deposit of silver nanoparticles and zinc. The silver deposit is a proposal of the Materials Technology Department of the Instituto Nacional de Investigaciones Nucleares (ININ) in Mexico, which has the same objective that the noble metals deposit (Pt, Pd, and Rh) that is practiced in some of the reactors BWR, in order to mitigating the speed of crack growth for IGSCC in stainless steels 304 Ss. (Author)

A global first integral for certain dynamical systems and related remarks

International Nuclear Information System (INIS)

Gonzalez-Gascon, F.

1977-01-01

A global first integral for certain dynamical systems and the related remarks are presented. In particular, it is shown that for these dynamical systems by introducing the (intrinsic) definition of the divergence of a vector field defined on an orientable differentiable manifold, the first integral, i.e. the (intrinsic) divergence of a vector field is now, automatically, a global first integral. (author)

Extremophilic Acinetobacter Strains from High-Altitude Lakes in Argentinean Puna: Remarkable UV-B Resistance and Efficient DNA Damage Repair

Science.gov (United States)

Albarracín, Virginia Helena; Pathak, Gopal P.; Douki, Thierry; Cadet, Jean; Borsarelli, Claudio Darío; Gärtner, Wolfgang; Farias, María Eugenia

2012-06-01

High-Altitude Andean Lakes (HAAL) of the South American Andes are almost unexplored ecosystems of shallow lakes. The HAAL are recognized by a remarkably high UV exposure, strong changes in temperature and salinity, and a high content of toxic elements, especially arsenic. Being exposed to remarkably extreme conditions, they have been classified as model systems for the study of life on other planets. Particularly, Acinetobacter strains isolated from the HAAL were studied for their survival competence under strong UV-B irradiation. Clinical isolates, Acinetobacter baumannii and Acinetobacter johnsonii, served as reference material. Whereas the reference strains rapidly lost viability under UV-B irradiation, most HAAL-derived strains readily survived this exposure and showed less change in cell number after the treatment. Controls for DNA repair activity, comparing dark repair (DR) or photo repair (PR), gave evidence for the involvement of photolyases in the DNA repair. Comparative measurements by HPLC-mass spectrometry detected the number of photoproducts: bipyrimidine dimers under both PR and DR treatments were more efficiently repaired in the HAAL strains (up to 85 % PR and 38 % DR) than in the controls (31 % PR and zero DR ability). Analysis of cosmid-cloned total genomic DNA from the most effective DNA-photorepair strain (Ver3) yielded a gene (HQ443199) encoding a protein with clear photolyase signatures belonging to class I CPD-photolyases. Despite the relatively low sequence similarity of 41 % between the enzymes from Ver3 and from E. coli (PDB 1DNPA), a model-building approach revealed a high structural homology to the CPD-photolyase of E. coli.

A remark on the energy conditions for Hawking's area theorem

Science.gov (United States)

Lesourd, Martin

2018-06-01

Hawking's area theorem is a fundamental result in black hole theory that is universally associated with the null energy condition. That this condition can be weakened is illustrated by the formulation of a strengthened version of the theorem based on an energy condition that allows for violations of the null energy condition. With the semi-classical context in mind, some brief remarks pertaining to the suitability of the area theorem and its energy condition are made.

Some remarks on theological thought of María Zambrano

Directory of Open Access Journals (Sweden)

Juana Sánchez-Gey Venegas

2018-01-01

Full Text Available Maria Zambrano reflects upon some of the problems she has been always interested in: Christianity and Mysticism with especial emphasis on the divine processions, the Incarnation of Christ, the Virgin Mary, the liturgy among other personal experiences. In these letters the pursuit for the Holy Spirit as the foundation of knowledge is remarkably noticeable, so that it could be argued that this experience contributes and gives rise to the rejection both of rationalism and of materialism of the philosophy.

Some Remarks on Stochastic Versions of the Ramsey Growth Model

Czech Academy of Sciences Publication Activity Database

Sladký, Karel

2012-01-01

Roč. 19, č. 29 (2012), s. 139-152 ISSN 1212-074X R&D Projects: GA ČR GAP402/10/1610; GA ČR GAP402/10/0956; GA ČR GAP402/11/0150 Institutional support: RVO:67985556 Keywords : Economic dynamics * Ramsey growth model with disturbance * stochastic dynamic programming * multistage stochastic programs Subject RIV: BB - Applied Statistics, Operational Research http://library.utia.cas.cz/separaty/2013/E/sladky-some remarks on stochastic versions of the ramsey growth model.pdf

Interspecies complementation analysis of xeroderma pigmentosum and UV-sensitive Chinese hamster cells

International Nuclear Information System (INIS)

Stefanini, M.; Keijzer, W.; Westerveld, A.; Bootsma, D.

1985-01-01

Complementation analysis was performed 24 h after fusion of UV-sensitive CHO cells (CHO 12 RO) with XP cells of complementation groups A, B, C, D, F and G. The parental cells are characterized by low levels of unscheduled DNA synthesis (UDS). In all combinations, the UDS levels observed in heterokaryons were higher than those in parental mutant cells, clearly indicating cooperation of human and Chinese hamster repair functions. In heterokaryons of CHO 12 RO with XP-A and XP-C cells, the UDS values reached about the normal human level, whereas in heterokaryons with XP-B, XP-D and XP-F, UDS was restored at a level approaching that in wild-type CHO cells. The results obtained after fusion of CHO cells with two representative cell strains from the XP-G group, XP 2 BI and XP 3 BR, were inconsistent. Fusion with XP 3 BR cells yielded UDS levels ranging from wild-type Chinese hamster to normal human, whereas fusion with XP 2 BI cells resulted in a slight increase in UDS which even after 48 h remained below the level found in wild-type CHO cells. The occurrence of complementation in these interspecies heterokaryons indicates that the genetic defect in the CHO 12 RO cells is different from the defects in the XP complementation groups tested

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum

International Nuclear Information System (INIS)

Tanaka, K.; Satokata, I.; Ogita, Z.; Uchida, T.; Okada, Y.

1989-01-01

For isolation of the gene responsible for xeroderma pigmentosum (XP) complementation group A, plasmid pSV2gpt and genomic DNA from a mouse embryo were cotransfected into XP2OSSV cells, a group-A XP cell line. Two primary UV-resistant XP transfectants were isolated from about 1.6 X 10(5) pSV2gpt-transformed XP colonies. pSV2gpt and genomic DNA from the primary transfectants were again cotransfected into XP2OSSV cells and a secondary UV-resistant XP transfectant was obtained by screening about 4.8 X 10(5) pSV2gpt-transformed XP colonies. The secondary transfectant retained fewer mouse repetitive sequences. A mouse gene that complements the defect of XP2OSSV cells was cloned into an EMBL3 vector from the genome of a secondary transfectant. Transfections of the cloned DNA also conferred UV resistance on another group-A XP cell line but not on XP cell lines of group C, D, F, or G. Northern blot analysis of poly(A)+ RNA with a subfragment of cloned mouse DNA repair gene as the probe revealed that an approximately 1.0 kilobase mRNA was transcribed in the donor mouse embryo and secondary transfectant, and approximately 1.0- and approximately 1.3-kilobase mRNAs were transcribed in normal human cells, but none of these mRNAs was detected in three strains of group-A XP cells. These results suggest that the cloned DNA repair gene is specific for group-A XP and may be the mouse homologue of the group-A XP human gene

Academy of Program/Project & Engineering Leadership: Shared Voyage: Learning and Unlearning from Remarkable Projects

Data.gov (United States)

National Aeronautics and Space Administration — Shared Voyage is about four remarkable projects:the Advanced Composition Explorer (NASA), the Joint Air-to-Surface Standoff Missile (U.S. Air Force), the Pathfinder...

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.)

Characterization of a splicing mutation in group A xeroderma pigmentosum

International Nuclear Information System (INIS)

Satokata, Ichiro; Tanaka, Kiyoji; Miura, Naoyuki; Miyamoto, Iwai; Okada, Yoshio; Satoh, Yoshiaki; Kondo, Seiji

1990-01-01

The molecular basis of group A xeroderma pigmentosum (WP) was investigated by comparison of the nucleotide sequences of multiple clones of the XP group A complementing gene (XPAC) from a patient with group A XP with that of a normal gene. The clones showed a G → C substitution at the 3' splice acceptor site of intron 3, which altered the obligatory AG acceptor dinucleotide to AC. Nucleotide sequencing of cDNAs amplified by the polymerase chain reaction revealed that this single base substitution abolishes the canonical 3' splice site, thus creating two abnormally spliced mRNA forms. The larger form is identical with normal mRNA except for a dinucleotide deletion at the 5' end of exon 4. This deletion results in a frameshift with premature translation termination in exon 4. The smaller form has a deletion of the entire exon 3 and the dinucleotide at the 5' end of exon 4. The result of a transfection study provided additional evidence that this single base substitution is the disease-causing mutation. This single base substitution creates a new cleavage site for the restriction nuclease AlwNI. Analysis of AlwNI restriction fragment length polymorphism showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 Blacks with group A XP did not have this mutant allele. The polymorphic AlwNI restriction fragments are concluded to be useful for diagnosis of group A XP in Japanese subjects, including prenatal cases and carriers

The remarkable convergence of skull shape in crocodilians and toothed whales.

Science.gov (United States)

McCurry, Matthew R; Evans, Alistair R; Fitzgerald, Erich M G; Adams, Justin W; Clausen, Philip D; McHenry, Colin R

2017-03-15

The striking resemblance of long-snouted aquatic mammals and reptiles has long been considered an example of morphological convergence, yet the true cause of this similarity remains untested. We addressed this deficit through three-dimensional morphometric analysis of the full diversity of crocodilian and toothed whale (Odontoceti) skull shapes. Our focus on biomechanically important aspects of shape allowed us to overcome difficulties involved in comparing mammals and reptiles, which have fundamental differences in the number and position of skull bones. We examined whether diet, habitat and prey size correlated with skull shape using phylogenetically informed statistical procedures. Crocodilians and toothed whales have a similar range of skull shapes, varying from extremely short and broad to extremely elongate. This spectrum of shapes represented more of the total variation in our dataset than between phylogenetic groups. The most elongate species (river dolphins and gharials) are extremely convergent in skull shape, clustering outside of the range of the other taxa. Our results suggest the remarkable convergence between long-snouted river dolphins and gharials is driven by diet rather than physical factors intrinsic to riverine environments. Despite diverging approximately 288 million years ago, crocodilians and odontocetes have evolved a remarkably similar morphological solution to feeding on similar prey. © 2017 The Author(s).

Sodium butyrate stimulates cellular recovery from UV damage in xeroderma pigmentosum cells belonging to complementation group F

International Nuclear Information System (INIS)

Nishigori, Chikako; Takebe, Hiraku

1987-01-01

Possible stimulation of the DNA repair capacity by sodium butyrate in normal and xeroderma pigmentosum (XP) cells was investigated. XP cells belonging to the complementation group F showed considerable stimulation of DNA repair by sodium butyrate in terms of both the amount of unscheduled DNA synthesis (UDS) and the colony-forming ability after UV irradiation. UDS in XP cells belonging to the complementation group A was not enhanced, while normal cells showed slight enhancement, but less than that of XP F cells. In XP A, XP C, and normal cells, sodium butyrate treatment enhanced the killing effect of UV irradiation. The residual repair capacity in XP F cells appeared to be stimulated by sodium butyrate. (author)

Closing remarks at the symposium in honour of Daniel Bellus. Pharmacenter, University of Basel, February 6, 2009.

Science.gov (United States)

Ganter, Camille

2010-01-01

In the Closing Remarks at the Symposium on 'Frontiers in Bioorganic Chemistry' (Friday, February 6, 2009, Pharmacenter, University of Basel) in honour of Daniel Bellus, his arrival in Zürich in fall 1967 and especially his postdoctoral work at the Laboratorium für Organische Chemie at the Eidgenössische Technische Hochschule (ETH) in Zürich throughout the year 1967/68 were mentioned. In his most remarkable paper (published in 1969 in Helv. Chim. Acta), the photochemistry of the alpha,beta-unsaturated cyclohexenones O-acetyl-testosterone and 10-methy-delta1,9-octalon-(2) is described in detail. Change of solvent leads to lowering or increasing of the n,pi*- and (pi,pi*)-triplet energies, resulting in a crossing of the two energy levels. Personal remarks on Daniel Bellus and warmest thanks to him, to Profs. Beat Ernst and Bernd Giese (the organizers of the symposium) and to all the speakers concluded this most special event.

Radiosynoviorthesis in the reflection of Evidence-based Medicine (EbM)

International Nuclear Information System (INIS)

Kampen, W.U.

2006-01-01

This paper summarizes the literature on clinical efficacy of radiosynoviorthesis with respect to the criteria of evidence-based medicine (EbM). Each therapy has to face up to the success and the costs of other treatment modalities, especially in times of scarce financial resources of our health care system. For many physicians and scientists, evidence-based medicine, which means weighting clinical trials by several quality factors like randomization, blinding or comparison with a placebo seems to be the ''philosophers'stone'' to some extent. Concerning radiosynoviorthesis, the existence of clinical studies with a high quality according to the EbM is sometimes negated. However, this statement cannot be abided after extensive revision of the literature. The nuclear medicine physician practising radiosynoviorthesis should be provided with arguments from the literature supporting his personal experience for successful discussions with referring colleques. This is achieved by listing the respective papers especially of evidence classes Ib and IIa with a short summary of each of them. Some critical remarks on evidence-based medicine if used as the only basis of therapeutic practise complete this paper. (orig.)

Characterization of remarkable floods in France, a transdisciplinary approach applied on generalized floods of January 1910

Science.gov (United States)

Boudou, Martin; Lang, Michel; Vinet, Freddy; Coeur, Denis

2014-05-01

The 2007 Flood Directive promotes the integration and valorization of historical and significant floods in flood risk management (Flood Directive Text, chapter II, and article 4). Taking into account extreme past floods analysis seems necessary in the mitigation process of vulnerability face to flooding risk. In France, this aspect of the Directive was carried out through the elaboration of Preliminary Flood Risk Assessment (PFRA) and the establishment of a 2000 floods list. From this first list, a sample of 176 floods, considered as remarkable has been selected. These floods were compiled in discussion with local authorities in charge of flood management (Lang et al., 2012) and have to be integrated in priority in local risk management policies. However, a consideration emerges about this classification: how a remarkable flood can be defined? According which criteria can it be considered as remarkable? To answer these questions, a methodology has been established by building an evaluation grid of remarkable floods in France. The primary objective of this grid is to analyze the remarkable flood's characteristics (hydrological and meteorological characteristics, sociological- political and economic impacts), and secondly to propose a classification of significant floods selected in the 2011 PFRA. To elaborate this evaluation grid, several issues had to be taken into account. First, the objective is to allow the comparison of events from various periods. These temporal disparities include the integration of various kinds of data and point out the importance of historical hydrology. It is possible to evaluate accurately the characteristics of recent floods by interpreting quantitative data (for example hydrological records. However, for floods that occurred before the 1960's it is necessary resorting to qualitative information such as written sources is necessary (Coeur, Lang, 2008). In a second part the evaluation grid requires equitable criteria in order not to

Host-cell reactivation of ultraviolet-irradiated SV 40 DNA in five complementation groups of xeroderma pigmentosum

International Nuclear Information System (INIS)

Abrahams, P.J.; Eb, A.J. van der

1976-01-01

Host-cell reactivation of UV-irradiated double-stranded SV40 DNA was studied in BSC-1 monkey cells, normal human cells, heterozygous Xeroderma pigmentosum xp cells, representative cell strains of the five complemention groups of XP and in XP 'variant' cells. The following percentages of survival of the plaque-forming ability of double-stranded SV40 DNA were found in XP cells compared with the value found in normal monkey and human cells: groupA, 13%; group B, 30%; group C, 18%; group D, 14%; group E, 59%; and in the heterozygous XP cells almost 100%. The survival in XP 'variant' cells was 66%. The survival of single-stranded SV40 DNA in BSC-1 cells was much lower than that of double-stranded SV40 DNA in XP cells of complementation group A, which possibly indicates that some repair of UV damage occurs even in XP cells of group A

Remarks on Prof. Michał Kokowski’s comment about the studies into the life of Prof. Jan Czochralski (in Polish

Directory of Open Access Journals (Sweden)

Paweł E. TOMASZEWSKI

2015-12-01

Full Text Available Remarks on the critical comments regarding the contents of the paper published after the presentation delivered by the biographer of Prof. Jan Czochralski. Unfortunately, Prof. Kokowski used an incorrect historical approach to such a short paper. The remarks are presented in four main points.

The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale.

Science.gov (United States)

Nakano, Eiji; Masaki, Taro; Kanda, Fumio; Ono, Ryusuke; Takeuchi, Seiji; Moriwaki, Shinichi; Nishigori, Chikako

2016-08-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease. Patients with XP have severe hypersensitivity to sunlight, resulting in skin cancers, and some patients have neurological symptoms. In Japan, XP complementation group A (XP-A) is the most common form, and it is associated with severe neurological symptoms. We performed a nationwide survey on XP to determine the present status of XP in Japan. The distribution of complementation groups in Japan was considerably different from that in other countries, but there was a higher frequency in group A and the variant type, which is similar to previous reports in Japan. Basal cell carcinoma was the most frequent skin cancer that patients with XP developed, followed by squamous cell carcinoma and malignant melanoma. The frequency of these skin cancers in patients with XP-A has decreased, and these skin cancers have been occurring in much older people than those previously observed. Diagnosing XP in patients at younger ages seems to encourage patients and their parents to use sun protection, which helps prevent skin cancer. We also created a tentative scale for classifying the severity of XP, and we evaluated the neurological symptoms of XP-A using this severity scale. Our classification correlated well with patients' age, suggesting that it may be useful and feasible in clinical practice to assess the progression of symptoms of each patient with XP and evaluate the effects of treatment in the future. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Social Interplay of Disciplinarity and Interdisciplinarity. Some Introductory Remarks

Directory of Open Access Journals (Sweden)

Reinhold Hedtke

2006-12-01

Full Text Available Social Science Education as a subject field in schools is an intrinsic pluridisciplinary feature, whatever disciplines are included, however it may be organised and wherever it may be institutionalised. Civic education, economic education, social education and historical education each comprise several academic disciplines even if they are thought to be completely independent subjects. From the start on, disciplinarity and interdisciplinarity are on the agenda for any subject related to social science education and are one of its main problems. For these introductory remarks interdisciplinarity can be simply defined as relating two or more academic disciplines or school subjects to each other if this is done in a purposeful, systematic, explicit and reflective way. The overarching goal is to improve education that is to enhance students' understandings of the worlds and their abilities to act within and towards them. A relationship between disciplines or subjects which misses one or more of the four characteristics can be called pluridisciplinary or multidisciplinary (cf. Audigier 2006. In the following I first want to discuss some aspects of disciplinarity and interdisciplinarity at schools and at universities and the weakness of interdisciplinarity. I sketch some social science based ideas on the interrelationship between the subject structure of the academic world and the world of schools (3. and of some tendency to commonalities or even unification of social sciences and related competencies (4.. I conclude with some remarks on different kinds of knowledge (5.. Last but not least, I'll give an overview on the papers in this issue of the Journal of Social Science Education (6..

A REMARKABLE CLADONIACEAE FLORA AT SUBANDEAN REGION IN CHÁMEZA (CASANARE, COLOMBIA

Directory of Open Access Journals (Sweden)

LADY JOHANNA HERRERA VARGAS

2014-12-01

Full Text Available A remarkable Cladoniaceae flora was discovered in the subandean region of Chámeza, ( Casanare, Colombia at 1200 meters above sea level. Four species of the genus Cladonia (Cladoniaceae, Lichenized Fungi are new records for Colombia : Cladonia macilentoides, C. scabriuscula, C. sipmanii and C. subdelicatula. This shows the importance of increasing diversity studies at mid elevations where suitable habitats for species of Cladonia occur.

Electroweak interactions at the SSC: introductory remarks multi W and Z production

International Nuclear Information System (INIS)

Gaillard, M.K.

1984-03-01

This report is a partial summary of the work of the electroweak interaction study group at the Workshop on p anti p Options for the Super Collider, University of Chicago, February 13-17, 1984. Included are general remarks concerning the topics studied and a discussion of multi intermediate vector boson production as a probe of the gauge and scalar sectors of the electroweak theory

Concluding remarks: Faraday Discussion on chemistry in the urban atmosphere.

Science.gov (United States)

Jimenez, Jose L

2016-07-18

This article summarises the Concluding remarks from the Faraday Discussion on Chemistry in the Urban Atmosphere. The following themes are addressed: (a) new results that inform our understanding of the evolving sources and composition of the urban atmosphere ("News"); (b) results that identify gaps in our understanding that necessitate further work ("Gaps"); (c) the emerging instrumentation revolution and some of the challenges that it brings; (d) the structural issues of insufficient support for the analysis of field campaigns; and (e) some important areas that were missing from this Faraday Discussion and that should receive an increasing focus in the future.

Cockayne syndrome and xeroderma pigmentosum

Science.gov (United States)

Rapin, I.; Lindenbaum, Y.; Dickson, D.W.; Kraemer, K.H.; Robbins, J.H.

2015-01-01

Objectives To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum–Cockayne syndrome (XP-CS) complex to undergo neuropathologic examination. Methods Published reports of clinical, pathologic, and molecular studies of CS, XP neurologic disease, and the XP-CS complex were reviewed, and a ninth case of XP-CS is summarized. Results CS is a multisystem disorder that causes both profound growth failure of the soma and brain and progressive cachexia, retinal, cochlear, and neurologic degeneration, with a leukodystrophy and demyelinating neuropathy without an increase in cancer. XP presents as extreme photosensitivity of the skin and eyes with a 1000-fold increased frequency of cutaneous basal and squamous cell carcinomas and melanomas and a small increase in nervous system neoplasms. Some 20% of patients with XP incur progressive degeneration of previously normally developed neurons resulting in cortical, basal ganglia, cerebellar, and spinal atrophy, cochlear degeneration, and a mixed distal axonal neuropathy. Cultured cells from patients with CS or XP are hypersensitive to killing by ultraviolet (UV) radiation. Both CS and most XP cells have defective DNA nucleotide excision repair of actively transcribing genes; in addition, XP cells have defective repair of the global genome. There are two complementation groups in CS and seven in XP. Patients with the XP-CS complex fall into three XP complementation groups. Despite their XP genotype, six of nine individuals with the XP-CS complex, including the boy we followed up to his death at age 6, had the typical clinically and pathologically severe CS phenotype. Cultured skin and blood cells had extreme sensitivity to killing by UV radiation, DNA repair was severely deficient, post-UV unscheduled DNA synthesis was reduced to less than 5%, and post-UV plasmid

In quest of a relativistic constituent quark model - some constructive remarks

International Nuclear Information System (INIS)

Hofsaess, T.; Schierholz, G.

1978-01-01

The set-up of a relativistic constituent quark model in four dimensions is one of the outstanding problems in particle physics. For the time being this involves a great deal of model building which, very probably, will not change in the near future. In this paper we shall offer some general remarks which might help putting such models into shape. Most of the earlier attempts are found controversial. In particular, a conventional quark constituent interpretation could not be recovered. (orig.) [de

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB

NARCIS (Netherlands)

Bergen, A. A.; Kestelyn, P.; Leys, M.; Meire, F.

1994-01-01

The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2

NCBI nr-aa BLAST: CBRC-MDOM-06-0050 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MDOM-06-0050 ref|XP_510783.2| PREDICTED: cell death inducing protein isoform 4... [Pan troglodytes] ref|XP_001168950.1| PREDICTED: cell death inducing protein isoform 2 [Pan troglodytes] re...f|XP_001168974.1| PREDICTED: cell death inducing protein isoform 3 [Pan troglodytes] XP_510783.2 1e-66 69% ...

NCBI nr-aa BLAST: CBRC-MLUC-01-1044 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MLUC-01-1044 ref|XP_510783.2| PREDICTED: cell death inducing protein isoform 4... [Pan troglodytes] ref|XP_001168950.1| PREDICTED: cell death inducing protein isoform 2 [Pan troglodytes] re...f|XP_001168974.1| PREDICTED: cell death inducing protein isoform 3 [Pan troglodytes] XP_510783.2 3e-73 73% ...

Global checklist of species of Grania (Clitellata: Enchytraeidae with remarks on their geographic distribution

Directory of Open Access Journals (Sweden)

Alessandro Prantoni

2017-12-01

Full Text Available A checklist of all currently accepted species of Grania Southern, 1913 (Annelida, Clitellata, Enchytraeidae is presented. The genus is widespread over the world and comprises 81 species described to date. Remarks on their geographical distribution, habitat, synonymies and museum catalogue numbers are provided.

TFE3-positive renal cell carcinomas are not always Xp11 translocation carcinomas: Report of a case with a TPM3-ALK translocation.

Science.gov (United States)

Thorner, Paul Scott; Shago, Mary; Marrano, Paula; Shaikh, Furqan; Somers, Gino R

2016-10-01

Translocation-associated renal cell carcinoma (RCC) is a distinct subtype of RCC with gene rearrangements of the TFE3 or TFEB loci. The TFE3 gene is located at Xp11 and can fuse to a number of translocation partners, resulting in high nuclear expression of TFE3 protein. TFE3 immunostaining is often used as a surrogate marker for a TFE3 translocation. We report a case of an RCC that expressed TFE3 but showed only gain of TFE3 rather than a translocation. Moreover, this case had a t(1;2) translocation fusing ALK and TMP3, identical to that seen in inflammatory myofibroblastic tumour. There was resulting overexpression of ALK protein in a cytoplasmic and membranous pattern. The patient was not treated with chemotherapy but following regional nodal recurrence, an ALK inhibitor was added and the patient remains alive one year later. There are only rare reports of RCC with an ALK-TMP3 fusion, and these tumours can express TFE3 on some unknown basis not related to a TFE3 translocation. Any RCC positive for TFE3 and lacking a translocation should be tested for ALK expression and translocation. Recognition of this subtype of RCC will allow ALK inhibitor therapy to be added, in the hope of improving patient outcome. Copyright © 2016 Elsevier GmbH. All rights reserved.

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans : refinement of gene localization and evidence for genetic heterogeneity

NARCIS (Netherlands)

Oosterwijk, JC; Richard, G; vanderWielen, MJR; van de Vosse, E; Harth, W; Sandkuijl, LA; Bakker, E; vanOmmen, GJB

1997-01-01

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes, In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13-p22.2. By analyzing several new markers in this region, we were able to narrow the candidate region to a 1-Mb

NCBI nr-aa BLAST: CBRC-RNOR-05-0198 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RNOR-05-0198 ref|XP_001163354.1| PREDICTED: T-cell acute lymphocytic leukemia ...1 isoform 1 [Pan troglodytes] ref|XP_001163426.1| PREDICTED: T-cell acute lymphocytic leukemia 1 isoform 2 [...Pan troglodytes] ref|XP_513389.2| PREDICTED: T-cell acute lymphocytic leukemia 1 isoform 3 [Pan troglodytes] XP_001163354.1 1e-174 91% ...

NCBI nr-aa BLAST: CBRC-OPRI-01-0714 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OPRI-01-0714 ref|XP_001165432.1| PREDICTED: caspase recruitment domain family,... member 4 isoform 1 [Pan troglodytes] ref|XP_001165528.1| PREDICTED: caspase recruitment domain family, memb...er 4 isoform 2 [Pan troglodytes] ref|XP_001165565.1| PREDICTED: caspase recruitment domain family, member 4 isoform 3 [Pan troglodytes] XP_001165432.1 0.0 79% ...

Closing remarks at 4th NuFact '02 workshop, London, England, 6 July 2002

International Nuclear Information System (INIS)

Sessler, Andrew M.

2003-01-01

A brief survey is given of actual R and D activities around the world. Following that, various conceptual developments significant to factories are reviewed. Then we turn to the costs of a factory. We discuss the present budgetary woes throughout the world and end with some closing remarks

Remarks on the high-energy behavior of string scattering amplitudes in warped spacetimes. II

International Nuclear Information System (INIS)

Andreev, Oleg

2005-01-01

We study the Regge limit of string amplitudes within the model of Polchinski-Strassler for string scattering in warped spacetimes. We also present some numerical estimations of the Regge slopes and intercepts. It is quite remarkable that the real values of those are inside a range of ours

Concluding remarks. International Conference on Nuclear Physics, Berkeley, California, August 1980

International Nuclear Information System (INIS)

Feshbach, H.

1980-10-01

Not a conference summary, these concluding remarks consider five major themes that were illuminated during the conference and the problems within them that need to be resolved in the future. The five topics considered and the following: new degrees of freedom (single-particle motion, giant resonances, nuclear molecular resonances, nuclear matter, kaon-produced hypernuclei, implications of the bag model and quantum chromodynamics), new forms of matter, new reaction mechanisms (direct vs compound-nucleus reactions, heavy-ion reactions), new aspects of the weak interactions in nuclei (weak neutral currents, P invariance), and new symmetries. 4 figures

Evidence that meiotic pairing starts at the telomeres: Molecular analysis of recombination in a family with a pericentric X chromosome inversion

Energy Technology Data Exchange (ETDEWEB)

Shashi, V.; Allinson, P.S.; Golden, W.L.; Kelly, T.E. [Univ. of Virginia, Charlottesville, VA (United States)

1994-09-01

Recent studies in yeast have shown that telomeres rather than centromeres lead in chromosome movement just prior to meiosis and may have a role in recombination. Cytological studies of meiosis in Drosophila and mice have shown that in pericentric inversion heterozygotes there is lack of loop formation, with recobmination seen only outside the inversion. In a family with Duchenne muscular dystrophy (DMD) we recognized that only affected males and carrier females had a pericentric X chromosome inversion (inv X(p11.4;q26)). Since the short arm inversion breakpoint was proximal to the DMD locus, it could not be implicated in the mutational event causing DMD. There was no history of infertility, recurrent miscarriages or liveborn unbalanced females to suggest there was recombination within the inversion. We studied 22 members over three generations to understand the pattern of meiotic recombination between the normal and the inverted X chromosome. In total, 17 meioses involving the inverted X chromosome in females were studied by cytogenetic analysis and 16 CA repeat polymorphisms along the length of the X chromosome. Results: (a) There was complete concordance between the segregation of the DMD mutation and the inverted X chromosome. (b) On DNA analysis, there was complete absence of recombination within the inverted segment. We also found no recombination at the DMD locus. Recombination was seen only at Xp22 and Xq27-28. (c) Recombination was seen in the same individual at both Xp22 and Xq27-28 without recombination otherwise. Conclusions: (1) Pericentric X inversions reduce the genetic map length of the chromosome, with the physical map length being normal. (2) Meiotic X chromosome pairing in this family is initiated at the telomeres. (3) Following telomeric pairing in pericentric X chromosome inversions, there is inhibition of recombination within the inversion and adjacent regions.

Epistemologic inquiries in evidence-based medicine.

Science.gov (United States)

Djulbegovic, Benjamin; Guyatt, Gordon H; Ashcroft, Richard E

2009-04-01

Since the term "evidence-based medicine" (EBM) first appeared in the scientific literature in 1991, the concept has had considerable influence in many parts of the world. Most professional societies, the public,and funding agencies have accepted EBM with remarkable enthusiasm. The concept of evidence-based practice is now applied in management, education, criminology, and social work. Yet, EBM has attracted controversy: its critics allege that EBM uses a narrow concept of evidence and a naive conception of the relationships between evidence, theory, and practice. They also contend that EBM presents itself as a radical restructuring of medical knowledge that discredits more traditional ways of knowing in medicine, largely in the interests of people with a particular investment in the enterprise of large-scale clinical trials. Because EBM proposes aspecific relationship between theory, evidence, and knowledge, its theoretical basis can be understood as an epistemological system. Undertaking epistemological inquiry is important because the adoption of a particular epistemological view defines how science is conducted. In this paper, we challenge this critical view of EBM by examining how EBM fits into broad epistemological debates within the philosophy of science. We consider how EBM relates to some classical debates regarding the nature of science and knowledge. We investigate EBM from the perspective of major epistemological theories (logical-positivism/inductivism, deductivism/falsificationism/theory-ladeness of observations, explanationism/holism, instrumentalism, underdetermination theory by evidence). We first explore the relationship between evidence and knowledge and discuss philosophical support for the main way that evidence is used in medicine: (1) in the philosophical tradition that "rational thinkers respect their evidence," we show that EBM refers to making medical decisions that are consistent with evidence, (2) as a reliable sign, symptom, or mark to

Cyclodextrin-Scaffolded Alamethicin with Remarkably Efficient Membrane Permeabilizing Properties and Membrane Current Conductance

DEFF Research Database (Denmark)

Hjørringgaard, Claudia Ulrich; Vad, Brian Stougaard; Matchkov, Vladimir

2012-01-01

Bacterial resistance to classical antibiotics is a serious medical problem, which continues to grow. Small antimicrobial peptides represent a potential solution and are increasingly being developed as novel therapeutic agents. Many of these peptides owe their antibacterial activity to the formati......-channel current measurements, the α-helices of the templated multimers were demonstrated to insert into lipid bilayers forming highly efficient and remarkably stable ion-channels...

Remarks before the Beijing meeting of the pacific basin conference

International Nuclear Information System (INIS)

Rusche, B.C.

1987-01-01

A substantial amount of new generating capacity must be added in the United States before the turn of the century. Noting that the Light Water Reactor (LWR) has enjoyed a remarkably good safety record, the United States Department of Energy (DOE) is working actively to restore public and investor confidence in nuclear power. DOE is working with U.S. industry to encourage licensing reform, simplification and standardization of large plant designs, and resolution of the waste managment issues. We also are pursuing new, more tolerant, lower cost designs and are prepared to share our technology advances with other nations under mutually acceptable conditions and are determined to be a reliable supplier of equipment and enrichment services. (author)

Some remarks on the design of HIF current multiplication rings

International Nuclear Information System (INIS)

Reich, K.H.

1983-12-01

The conceptual design of heavy ion fusion drivers has now reached a state, where the overall approach has become fairly clear. One design features an RF linac plus current and beam multiplication rings. The present remarks concern the assignment of multiturn injection, beam storage and bunching to an optimized number of rings and transport lines, as well as some criteria for their designs. The main parameter constraints are discussed, showing how they can be met, although there is little flexibility at the present stage of understanding and technology. A shortened version of this report is scheduled for presentation at the ''INS International Symposium on Heavy Ion Accelerators and Their Application to Inertial Fusion'' Tokyo, January 23-27 1984. (author)

DNA strand breaking and rejoining in response to ultraviolet light in normal human and xeroderma pigmentosum cells

International Nuclear Information System (INIS)

Dingman, C.W.; Kakunaga, T.

1976-01-01

A description is given of a reproducible technique for measuring DNA strand breaking and rejoining in cells after treatment with U.V.-light. Results obtained with normal human cells, xeroderma pigmentosum cells (XP, complementation group A) and XP variant cells suggested that all three of these cell-types can carry out single-strand incision with equal rapidity. However, the breaks so induced appeared to be only slowly rejoined in the XP variant cells and rejoined not at all in XP complementation group A cells. Furthermore, parental strand rejoining was inhibited by caffeine in XP variant cells but not in normal cells. (author)

NCBI nr-aa BLAST: CBRC-PABE-16-0005 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-16-0005 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-114 79% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

NCBI nr-aa BLAST: CBRC-STRI-01-2632 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2632 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-142 88% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

NCBI nr-aa BLAST: CBRC-HSAP-15-0013 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-15-0013 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-115 79% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

Xeroderma pigmentosum in the United kingdom.

Science.gov (United States)

Lehmann, Alan R

2015-01-01

The seminal discovery by James Cleaver of defective DNA repair in xeroderma pigmentosum (XP) opened up an ever-expanding field of DNA repair-related disorders. In addition, it put XP on the map and has led to improved diagnosis, care and management of affected patients. In the United Kingdom, we recently established a multidisciplinary specialist clinic for XP patients. All XP patients in the United Kingdom are able to visit the clinic where they are examined and advised by a team of specialists with detailed knowledge of the different aspects of XP. © 2014 The American Society of Photobiology.

Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom.

Science.gov (United States)

Lim, Rongxuan; Sethi, Mieran; Morley, Ana M S

2017-11-01

To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype. Prospective observational case series. Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP. Patients underwent a full ophthalmic examination at each visit. Clinical features from both eyes were recorded on a standard proforma. The most recent assessments were analyzed. A 2-tailed Fisher exact test was used to assess for differences in ocular features between patients in XP subgroups with impaired transcription coupled nucleotide excision repair (TC-NER) (category 1: XP-A, B, D, F, and G) and preserved TC-NER (category 2: XP-C, E, and V). Lid and periocular abnormalities, ocular surface pathologies, neuro-ophthalmologic abnormalities, lens and retinal abnormalities, and visual acuity (VA). Ninety-three percent of XP patients in our cohort had ocular involvement, with 65% describing photophobia. The most common abnormalities were in the periocular skin and ocular surface, including interpalpebral conjunctival melanosis (44%) and conjunctival injection (43%). Eleven percent of patients had required treatment for periocular cancers and 2% for ocular surface cancers. The most common neuro-ophthalmologic finding was minimal pupillary reaction to light (25%). Patients in category 2 had significantly more ocular surface abnormalities than patients in category 1, including a greater proportion of conjunctival injection (P = 0.003), conjunctival corkscrew vessels (P < 0.001), corneal scarring (P = 0.01) and pingueculae under the age of 50 (P = 0.02). Meanwhile, patients in category 1 had a higher proportion of poorly reactive pupils (P < 0.001) and abnormal ocular movements (P = 0.03) compared with those in category 2. Five patients (6%) presented to ophthalmologists with ocular

Remarks on an equation common to Weyl's gauge field, Yang-Mills field and Toda lattice

International Nuclear Information System (INIS)

Nishioka, M.

1984-01-01

In this letter a remark is presented on an equation of a gauge-invariant Weyl's gauge field and it is shown that the equation is common to Yang's approach to the self-duality condition for SU 2 gauge field and the simplest Toda lattice

Inclusive spectra of reactions 56Fe(P, XP), (P, X α) measured at Ep=29,9 MeV

International Nuclear Information System (INIS)

Duisebayev, A.; Duisebayev, B.; Zholdybaev, T.; Ismailov, K.; Sadykov, B.

2004-01-01

Full text: The inclusive spectra of protons and α-particles emitted from proton induced reactions on 56 Fe isotopes at E p =29.9 ± 0.1MeV in angular range 30-135 o with the step 15 o have been measured on isochronous cyclotron U-150M of Institute of Nuclear Physics. Typically, intensities between 40 and 180 nA have been utilized with a beam energy resolution of 0.3%. The self-supporting isotopic enriched (95%) foil of 56 Fe with thickness of 2.7 mg/cm 2 in these experiments has been used. The two-detector telescope system (Δ E-E) registration of α-particles has been used. The thicknesses of silicon detectors are ΔE-30 microns and E-2000 microns. Solid angle subtended by a telescope of detectors was equal to Ω =2.72 * 10 -5 sr ± 1%. For registration and identification of protons in the whole energy range the same two-detector telescope (Δ E-E) system has been used. It was consisted of silicon surface-barrier ORTEC detector (100 micron) and a scintillation detector with a total absorption of CsI (Tl) (25 mm). The solid angle subtended by a telescope of detectors is equal to Ω =2.59 * 10 -5 sr. Basing on exciton model of pre-equilibrium decay have been calculated spectra of multi-step direct (MSD) and compound (MSC) processes for (p,xp), (p,x α) reaction on 56 Fe. From comparison of experimental and calculated integral spectra it follows that main contribution in experimental cross section is due to MSD reaction mechanism. It is shown also that evaporated part of cross-section is underestimated in framework of used version of exciton model. It can be explained by the following fact that used master equation approach gives only pre-equilibrium part of MSC process, so the emission from complex equilibrium configuration of composite system are not considered

Summary of remarks and recommendations concerning the 2nd draft revision of the IAEA transport regulations

International Nuclear Information System (INIS)

The report contains a summary of all the remarks and recommendations that had been received by the International Atomic Energy Agency from Member States and International Organizations on the second draft revision of the IAEA transport regulations

NCBI nr-aa BLAST: CBRC-AGAM-02-0156 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-02-0156 ref|XP_234385.3| PREDICTED: similar to pecanex homolog [Rattus no...rvegicus] ref|XP_001055794.1| PREDICTED: similar to pecanex homolog [Rattus norvegicus] XP_234385.3 1e-94 39% ...

Xanthelasma Palpebrarum with Arcus Cornea: A Clinical and Biochemical Study.

Science.gov (United States)

Nair, Pragya Ashok; Patel, Chaitali R; Ganjiwale, Jaishree D; Diwan, Nilofar Gulamsha; Jivani, Nidhi Bhimjibhai

2016-01-01

Xanthelasma palpebrarum (XP) is characterized by sharply demarcated yellowish flat plaques on upper and lower eyelids. It is commonly seen in women with a peak incidence at 30-50 years. It is also considered as the cutaneous marker of underlying atherosclerosis along with the disturbed lipid metabolism. XP and corneal arcus are associated with increased levels of serum cholesterol and low-density lipoprotein (LDL) cholesterol. To study the clinical pattern of XP, its relationship with lipid profile and association with arcus cornea. This study was conducted at Department of Dermatology and Opthalmology, between August 2013 and January 2015. Patients with clinical diagnosis of XP who visited skin outpatient department and willing to undergo lipid profile test and eye examination were included in the study. Data regarding demographics, clinical findings, family history, and past history were noted along with the lipid profile details. Data of age-matched healthy controls were taken for comparison. The clinical profile of the participants was presented using frequency and proportions. Gender wise analysis comparing the lipid profile in cases with XP and without XP was done using independent sample t-test. Total 49 patients of XP, 81.6% were females. Maximum, 35% patients were among 50-60 years of age and 69.4% were homemakers by occupation. The average lipid values were-cholesterol 210.57 mg%, triglyceride 123.06 mg%. LDL 142.79 mg% and VLDL 30.95 mg% among patients of XP. Arcus cornea was found in 20% cases of XP. Patients of XP requires proper investigation at the onset and regular follow-up thereafter for any altered lipid profile and early diagnosis of coronary artery disease.

Studies on the molecular mechanism of nucleotide excision repair in human cells

International Nuclear Information System (INIS)

Friedberg, E.C.

1987-01-01

Studies in this laboratory have focused on attempts to define the mechanism of nucleotide excision repair of DNA in human cells, with a view to understanding the molecular pathogenesis of the disease XP. With the advent of recombinant DNA technology, they directed their efforts to the molecular cloning of human genes defective in XP, with a view to using the cloned genes to overexpress proteins of interest for biochemical investigations. Initial studies exploited the selectable phenotype of marked sensitivity to killing of XP group A cells by UV radiation and by other DNA damaging agents. However, except for a single report in 1982 there has been no reproducible demonstration of complementation of the UV sensitivity of XP cells by DNA-mediated transfection. The apparent difficulties associated with transfection of XP cells have been the subject of several recent studies. In view of the multiple problems associated with stable transfection of XP cells using total genomic DNA, they have embarked on an alternative strategy designed to facilitate the cloning of human XP genes. This strategy involves the transfer of single human chromosomes into XP cells and screening for this relatively high frequency event. The idea is to identify chromosomes on which particular XP genes reside and then to isolate non-complementing derivatives of these chromosomes so that highly enriched DNA pools containing genes of interest can be generated by employing one or more subtractive strategies

Xeroderma pigmentosum clinical practice guidelines.

Science.gov (United States)

Moriwaki, Shinichi; Kanda, Fumio; Hayashi, Masaharu; Yamashita, Daisuke; Sakai, Yoshitada; Nishigori, Chikako

2017-10-01

Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease". For this reason, in March 2007, the Japanese Ministry of Health, Labor and Welfare added XP to the neurocutaneous syndromes that are subject to government research initiatives for overcoming intractable diseases. XP is one of the extremely serious photosensitive disorders in which patients easily develop multiple skin cancers if they are not completely protected from ultraviolet radiation. XP patients thus need to be strictly shielded from sunlight throughout their lives, and they often experience idiopathic neurodegenerative complications that markedly reduce the quality of life for both the patients and their families. Hospitals in Japan often see cases of XP as severely photosensitive in children, and as advanced pigmentary disorders of the sun-exposed area with multiple skin cancers in adults (aged in their 20-40s), making XP an important disease to differentiate in everyday clinical practice. It was thus decided that there was a strong need for clinical practice guidelines dedicated to XP. This process led to the creation of new clinical practice guidelines for XP. © 2017 Japanese Dermatological Association.

Semi-conservative deoxyribonucleic acid synthesis in unirradiated and ultraviolet-irradiated xeroderma pigmentosum and normal human skin fibroblasts

International Nuclear Information System (INIS)

Rude, J.M.; Friedberg, E.C.

1977-01-01

Rates of semiconservative DNA synthesis have been investigated in asynchronous xeroderma pigmentosum (XP), XP variant, and normal human skin fibroblasts using the technique of cellular autoradiography. In unirradiated cells, no differences in DNA synthesis rates were detected among the three cell strains. Exposure to UV radiation caused the rate of DNA synthesis to decrease for at least three hours in all three cell strains. In the normal cell strain, recovery of the DNA synthetic rate occurred at later times following a UV fluence of 5 J/m 2 . At this same UV fluence, recovery was absent in classical XP cells during a 24 h post-irradiation period while it was slower than normal in XP variant cells. When the UV fluence to classical XP and XP variant cells was reduced so that survival in all three cell strains was approximately the same (25%), recovery of the DNA synthetic rate was similar in all three cell strains. These results are discussed in terms of current models of DNA replication in UV-irradiated cells and indicate: (1) that pyrimidine dimers are very effective blocks to DNA synthesis and (2) that there is no inherent defect in semiconservative DNA synthesis in either classical XP or XP variant cells which is independent of a defect in DNA repair capacity

SHINING A LIGHT ON XERODERMA PIGMENTOSUM

Science.gov (United States)

DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and ultraviolet (UV) induced skin and mucous membrane cancers. Described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the basis for a mechanistic link between sun exposure, DNA damage, somatic mutations and skin cancer. XP cells were found to have defects in 7 of the proteins of the nucleotide excision repair pathway and in DNA polymerase eta. XP cells are hypersensitive to killing by UV and XP cancers have characteristic “UV signature” mutations. Clinical studies at NIH found a nearly 10,000-fold increase in skin cancer in XP patients under age 20 years demonstrating the substantial importance of DNA repair in cancer prevention in the general population. About 25 % of XP patients have progressive neurological degeneration with progressive loss of neurons, probably from DNA damage induced by oxidative metabolism which kills non-dividing cells in the nervous system. Interestingly, patients with another disorder, trichothiodystrophy have defects in some of the same genes as XP but they have primary developmental abnormalities without an increase in skin cancer. PMID:22217736

Remarkable identities related to the (quantum) elliptic Calogero-Sutherland model

International Nuclear Information System (INIS)

Langmann, Edwin

2006-01-01

We present remarkable functional identities related to the elliptic Calogero-Sutherland (eCS) system. We derive them from a second quantization of the eCS model within a quantum field theory model of anyons on a circle and at finite temperature. The identities involve two eCS Hamiltonians with arbitrary and, in general, different particle numbers N and M, and a particular function of N+M variables arising as anyon correlation function of N particles and M antiparticles. In addition to identities obtained from anyons with the same statistics parameter λ, we also obtain 'dual' relations involving 'mixed' correlation functions of anyons with two different statistics parameters λ and 1/λ. We also give alternative, elementary proofs of these identities by direct computations

Repair-deficient xeroderma pigmentosum cells made UV light resistant by fusion with X-ray-inactivated Chinese hamster cells

International Nuclear Information System (INIS)

Karentz, D.; Cleaver, J.E.

1986-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive human disease, characterized by an extreme sensitivity to sunlight, caused by the inability of cells to repair UV light-induced damage to DNA. Cell fusion was used to transfer fragments of Chinese hamster ovary (CHO) chromosomes into XP cells. The hybrid cells exhibited UV resistance and DNA repair characteristics comparable to those expressed by CHO cells, and their DNA had greater homology with CHO DNA than did the DNA from XP cells. Control experiments consisted of fusion of irradiated and unirradiated XP cells and repeated exposure of unfused XP cells to UV doses used for hybrid selection. These treatments did not result in an increase in UV resistance, repair capability, or homology with CHO DNA. The hybrid cell lines do not, therefore, appear to be XP revertants. The establishment of these stable hybrid cell lines is an initial step toward identifying and cloning CHO DNA repair genes that complement the XP defect in human cells. The method should also be applicable to cloning genes for other diseases, such as ataxia-telangiectasia and Fanconi's anemia

Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.

Science.gov (United States)

Fu, Lina; Xu, Xiuling; Ren, Ruotong; Wu, Jun; Zhang, Weiqi; Yang, Jiping; Ren, Xiaoqing; Wang, Si; Zhao, Yang; Sun, Liang; Yu, Yang; Wang, Zhaoxia; Yang, Ze; Yuan, Yun; Qiao, Jie; Izpisua Belmonte, Juan Carlos; Qu, Jing; Liu, Guang-Hui

2016-03-01

Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.

Allotropes of Phosphorus with Remarkable Stability and Intrinsic Piezoelectricity

Science.gov (United States)

Li, Zhenqing; He, Chaoyu; Ouyang, Tao; Zhang, Chunxiao; Tang, Chao; Römer, Rudolf A.; Zhong, Jianxin

2018-04-01

We construct a class of two-dimensional (2D) phosphorus allotropes by assembling a previously proposed ultrathin metastable phosphorus nanotube into planar structures in different stacking orientations. Based on first-principles methods, the structures, stabilities, and fundamental electronic properties of these allotropes are systematically investigated. Our results show that these 2D van der Waals phosphorene allotropes possess remarkable stabilities due to the strong intertube van der Waals interactions, which cause an energy release of about 30 - 70 meV /atom , depending on their stacking details. Most of them are confirmed to be energetically more favorable than the experimentally viable α -P and β -P . Three of them, showing a relatively higher probability of being synthesized in the future, are further confirmed to be dynamically stable semiconductors with strain-tunable band gaps and intrinsic piezoelectricity, which may have potential applications in nanosized sensors, piezotronics, and energy harvesting in portable electronic nanodevices.

Windows for Intel Macs

CERN Document Server

Ogasawara, Todd

2008-01-01

Even the most devoted Mac OS X user may need to use Windows XP, or may just be curious about XP and its applications. This Short Cut is a concise guide for OS X users who need to quickly get comfortable and become productive with Windows XP basics on their Macs. It covers: Security Networking ApplicationsMac users can easily install and use Windows thanks to Boot Camp and Parallels Desktop for Mac. Boot Camp lets an Intel-based Mac install and boot Windows XP on its own hard drive partition. Parallels Desktop for Mac uses virtualization technology to run Windows XP (or other operating systems

NCBI nr-aa BLAST: CBRC-DNOV-01-0174 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DNOV-01-0174 ref|XP_786035.2| PREDICTED: similar to autism-related protein 1 [...Strongylocentrotus purpuratus] ref|XP_001191209.1| PREDICTED: similar to autism-related protein 1 [Strongylocentrotus purpuratus] XP_786035.2 2.3 34% ...

Remarkable biomimetic chemoselective aerobic oxidation of flavano-ellagitannins found in oak-aged wine.

Science.gov (United States)

Petit, Emilie; Lefeuvre, Dorothée; Jacquet, Rémi; Pouységu, Laurent; Deffieux, Denis; Quideau, Stéphane

2013-10-25

Under the auspices of Bacchus! Acutissimins, natural flavano-ellagitannins, occur in oak-aged wine as a result of a diastereoselective condensation reaction of the flavan-3-ol catechin, a component of grapes, with the C-glucosidic ellagitannin vescalagin, found in oak. The acutissimins are further converted into natural mongolicains and analogues of camelliatannin G in a remarkably chemoselective fashion by simple aerobic oxidation. Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Rotational bands in the nuclear sup(168)Er and some remarks on their interpretation

International Nuclear Information System (INIS)

Davidson, W.F.; Dixon, W.R.; Storey, R.S.

1984-01-01

Further analysis of previously published data on sup(168)Er, together with results of new measurements of selected portions of the neutron capture γ-ray spectrum, has resulted in the construction of an improved level spectrum for this nucleus. Altogether 127 excited levels have now been established and grouped into 36 rotational bands. Some remarks on their interpretation are advanced

NCBI nr-aa BLAST: CBRC-MEUG-01-1506 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MEUG-01-1506 ref|XP_236329.4| PREDICTED: similar to Ladybird homeobox corepres...sor 1 [Rattus norvegicus] ref|XP_001075793.1| PREDICTED: similar to Ladybird homeobox corepressor 1 [Rattus norvegicus] XP_236329.4 1e-123 66% ...

NCBI nr-aa BLAST: CBRC-TNIG-22-0071 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TNIG-22-0071 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 8e-77 50% ...

NCBI nr-aa BLAST: CBRC-PCAP-01-1273 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PCAP-01-1273 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-106 76% ...

NCBI nr-aa BLAST: CBRC-VPAC-01-1343 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-VPAC-01-1343 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 7e-78 83% ...

NCBI nr-aa BLAST: CBRC-RMAC-01-0015 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RMAC-01-0015 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 96% ...

NCBI nr-aa BLAST: CBRC-TBEL-01-2154 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TBEL-01-2154 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-114 83% ...

NCBI nr-aa BLAST: CBRC-TTRU-01-0324 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TTRU-01-0324 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-157 85% ...

NCBI nr-aa BLAST: CBRC-RNOR-05-0237 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RNOR-05-0237 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-166 83% ...

NCBI nr-aa BLAST: CBRC-PHAM-01-1406 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PHAM-01-1406 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 96% ...

NCBI nr-aa BLAST: CBRC-OPRI-01-0626 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OPRI-01-0626 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-167 84% ...

NCBI nr-aa BLAST: CBRC-FRUB-02-0177 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-FRUB-02-0177 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 3e-76 49% ...

NCBI nr-aa BLAST: CBRC-MDOM-04-0425 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MDOM-04-0425 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-136 68% ...

NCBI nr-aa BLAST: CBRC-FCAT-01-0282 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-FCAT-01-0282 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-174 83% ...

NCBI nr-aa BLAST: CBRC-HSAP-01-0032 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-01-0032 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 99% ...

NCBI nr-aa BLAST: CBRC-PTRO-01-0019 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PTRO-01-0019 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 100% ...

NCBI nr-aa BLAST: CBRC-CJAC-01-1490 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CJAC-01-1490 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 94% ...

NCBI nr-aa BLAST: CBRC-CFAM-02-0024 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CFAM-02-0024 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-171 82% ...

NCBI nr-aa BLAST: CBRC-BTAU-01-3054 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-BTAU-01-3054 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-168 83% ...

NCBI nr-aa BLAST: CBRC-ACAR-01-0569 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ACAR-01-0569 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 2e-89 53% ...

NCBI nr-aa BLAST: CBRC-PVAM-01-1503 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PVAM-01-1503 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-179 88% ...

NCBI nr-aa BLAST: CBRC-OLAT-16-0022 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OLAT-16-0022 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 4e-75 47% ...

NCBI nr-aa BLAST: CBRC-PABE-01-0133 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-01-0133 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 98% ...

NCBI nr-aa BLAST: CBRC-ETEL-01-0353 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ETEL-01-0353 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-154 76% ...

NCBI nr-aa BLAST: CBRC-MMUS-04-0074 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MMUS-04-0074 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-166 82% ...

NCBI nr-aa BLAST: CBRC-DNOV-01-3215 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DNOV-01-3215 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-175 85% ...

NCBI nr-aa BLAST: CBRC-OPRI-01-1147 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OPRI-01-1147 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 5e-73 83% ...

NCBI nr-aa BLAST: CBRC-GGAL-23-0008 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GGAL-23-0008 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 4e-85 50% ...

NCBI nr-aa BLAST: CBRC-TGUT-26-0004 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TGUT-26-0004 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 6e-87 50% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-2431 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-2431 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-89 50% ...

NCBI nr-aa BLAST: CBRC-EEUR-01-1511 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-EEUR-01-1511 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 0.0 88% ...

NCBI nr-aa BLAST: CBRC-SARA-01-1608 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-SARA-01-1608 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-155 77% ...

NCBI nr-aa BLAST: CBRC-MEUG-01-1024 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MEUG-01-1024 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-130 65% ...

NCBI nr-aa BLAST: CBRC-STRI-01-2756 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2756 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-145 72% ...

NCBI nr-aa BLAST: CBRC-OANA-01-1293 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OANA-01-1293 ref|XP_513201.1| PREDICTED: cannabinoid receptor 2 (macrophage) i...soform 2 [Pan troglodytes] ref|XP_001166334.1| PREDICTED: cannabinoid receptor 2 (macrophage) isoform 1 [Pan troglodytes] XP_513201.1 1e-103 56% ...

NCBI nr-aa BLAST: CBRC-OPRI-01-1349 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OPRI-01-1349 ref|XP_515116.2| PREDICTED: caspase recruitment domain protein 10... isoform 3 [Pan troglodytes] ref|XP_001160660.1| PREDICTED: caspase recruitment domain protein 10 isoform 2 [Pan troglodytes] XP_515116.2 7.0 29% ...

The Public University in South Africa: Philosophical Remarks on the Notion of "Elitist Knowledge" Production

Science.gov (United States)

Waghid, Yusef

2009-01-01

In my remarks about elitist knowledge production, I firstly try to adjust the perspective from which the university could be analysed; I specifically explore the functions of the university in relation to Habermas's categorisation of knowledge. Secondly, with reference to Derrida's reflections on the university, I reformulate a conception of the…

Public meeting on radiation safety for industrial radiographerss: remarks, questions and answers at five NRC regional meetings

International Nuclear Information System (INIS)

1978-11-01

Over the past several years thenumber of radiation overexposures experienced in the radiography industry has been higher than for any other single group of NRC licensees. To inform radiography licensees of NRC's concern fo these recurring overexposure incidents, NRC staff representatives met with licensees in a series of five regional meetings. At these meetings the staff presented prepared remarks and answered questions on NRC regulations and operations. The main purposes of the meetings were to express NRC's concern for the high incidence of overexposures, and to open a line of communication between the NRC and radiography licensees in an effort to achieve the common goal of improved radiation safety. The remarks presented by the staff and subjects discussed at these meetings included: the purpose, scope, findings and goals of the NRC inspection program; ways and means of incorporating safety into radiography operations; and case histories of overexposure incidents, with highlights of the causes and possible preventions. At each of the regional meetings the staff received a request for a copy of the prepared remarks and a consolidation of the questions and answers that were discussed. This document includes that information, and a copy is being provided to each organizaion or firm attending the regional meetings. Requests for other copies should be made in accordance with the directions printed inside the front cover of this document

NCBI nr-aa BLAST: CBRC-EEUR-01-0952 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-EEUR-01-0952 ref|XP_935572.1| PREDICTED: similar to barrier to autointegration... factor 1 [Homo sapiens] ref|XP_946635.1| PREDICTED: similar to barrier to autointegration factor 1 [Homo sapiens] XP_935572.1 8e-07 69% ...

A Brief History of the Most Remarkable Numbers "e," "i" and "?" in Mathematical Sciences with Applications

Science.gov (United States)

Debnath, Lokenath

2015-01-01

This paper deals with a brief history of the most remarkable Euler numbers "e,"?"i"?and?"?" in mathematical sciences. Included are many properties of the constants "e,"?"i"?and?"?" and their applications in algebra, geometry, physics, chemistry, ecology, business and industry. Special…

Xanthelasma palpebrarum with arcus cornea: A clinical and biochemical study

Directory of Open Access Journals (Sweden)

Pragya Ashok Nair

2016-01-01

Full Text Available Background: Xanthelasma palpebrarum (XP is characterized by sharply demarcated yellowish flat plaques on upper and lower eyelids. It is commonly seen in women with a peak incidence at 30–50 years. It is also considered as the cutaneous marker of underlying atherosclerosis along with the disturbed lipid metabolism. XP and corneal arcus are associated with increased levels of serum cholesterol and low-density lipoprotein (LDL cholesterol. Aims and Objectives: To study the clinical pattern of XP, its relationship with lipid profile and association with arcus cornea. Materials and Methods: This study was conducted at Department of Dermatology and Opthalmology, between August 2013 and January 2015. Patients with clinical diagnosis of XP who visited skin outpatient department and willing to undergo lipid profile test and eye examination were included in the study. Data regarding demographics, clinical findings, family history, and past history were noted along with the lipid profile details. Data of age-matched healthy controls were taken for comparison. The clinical profile of the participants was presented using frequency and proportions. Gender wise analysis comparing the lipid profile in cases with XP and without XP was done using independent sample t-test. Results: Total 49 patients of XP, 81.6% were females. Maximum, 35% patients were among 50–60 years of age and 69.4% were homemakers by occupation. The average lipid values were-cholesterol 210.57 mg%, triglyceride 123.06 mg%. LDL 142.79 mg% and VLDL 30.95 mg% among patients of XP. Arcus cornea was found in 20% cases of XP. Conclusions: Patients of XP requires proper investigation at the onset and regular follow-up thereafter for any altered lipid profile and early diagnosis of coronary artery disease.

Teletandem between French and Brazilian students: Some preliminary remarks

Directory of Open Access Journals (Sweden)

Liliane SANTOS

2015-12-01

Full Text Available ABSTRACT In its French-Brazilian version, the Teletandem Brazil project enables students from the University of Lille 3 (France and from the State University of São Paulo (Unesp, Brazil, to take part in online exchanges, based on the principles of autonomy and reciprocity. In this work, we will present some preliminary remarks on the construction of cultural identity representations by the students who took part in the project, from 2006 to 2012, the specificity of the exchanges we analyze being that most of the French students involved in them are third generation Portuguese. We will examine the consequences of the introduction of a third culture within exchanges which, linguistically speaking, are bilateral. The French students are often experiencing conflicting feelings toward Brazil and, similarly, the Brazilian students may have conflicting feelings towards Portugal and France. Our preliminary results show that the most successful linguistic exchanges occur when students face their own cultural identity with no feeling of superiority or inferiority.

Remark on state vector construction when flavor mixing exists

International Nuclear Information System (INIS)

Fujii, K.; Shimomura, T.

2006-01-01

In the framework of quantum field theory, we consider the way to construct the one-particle state (with definite 3-momentum) when particle mixing exists, such as in the case of flavor-neutrino mixing. In the preceding report (Prog. Theor. Phys. 112, 901 (2004)), we have examined the structure of expectation values of the flavor neutrino charges (at time t) with respect to a neutrino-source state prepared at time t' (earlier than t). When there is no mixing, each of various contributions to the expectation value is equal, in its dominant part, to the transition probability corresponding to the respective neutrino-production process. On the basis of the assumption that such an equality holds also in the mixing case, we can find an appropriate form of one-flavor-neutrino state with 3-momentum and helicity. Along the same way, we examine the boson case when flavor mixing exists. We give remarks on the relation and difference between the ordinary and the present approaches to flavor oscillation

Repair Mechanism of UV-damaged DNA in Xeroderma Pigmentosum | Center for Cancer Research

Science.gov (United States)

Xeroderma pigmentosum (XP) is a rare, inherited disorder characterized by extreme skin sensitivity to ultraviolet (UV) rays from sunlight. XP is caused by mutations in genes involved in nucleotide excision repair (NER) of damaged DNA. Normal cells are usually able to fix this damage before it leads to problems; however, the DNA damage is not repaired normally in patients with XP. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. XP patients have more than a 10,000-fold increased risk of developing skin cancer. Kenneth Kraemer, M.D., in CCR’s Dermatology Branch, has been studying XP patients at the Clinical Center for more than 40 years.

NCBI nr-aa BLAST: CBRC-CBRE-01-0130 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CBRE-01-0130 ref|XP_782524.1| PREDICTED: similar to Slc40a1-prov protein [Stro...ngylocentrotus purpuratus] ref|XP_001190795.1| PREDICTED: similar to Slc40a1-prov protein [Strongylocentrotus purpuratus] XP_782524.1 4e-26 30% ...

Semi-conservative deoxyribonucleic acid synthesis in unirradiated and ultraviolet-irradiated xeroderma pigmentosum and normal human skin fibroblasts

Energy Technology Data Exchange (ETDEWEB)

Rude' e, J.M.; Friedberg, E.C.

1977-03-01

Rates of semiconservative DNA synthesis have been investigated in asynchronous xeroderma pigmentosum (XP), XP variant, and normal human skin fibroblasts using the technique of cellular autoradiography. In unirradiated cells, no differences in DNA synthesis rates were detected among the three cell strains. Exposure to uv radiation caused the rate of DNA synthesis to decrease for at least three hours in all three cell strains. In the normal cell strain, recovery of the DNA synthetic rate occurred at later times following a uv fluence of 5 J/m2. At this same uv fluence, recovery was absent in classical XP cells during a 24 h post-irradiation period while it was slower than normal in XP variant cells. When the uv fluence to classical XP and XP variant cells was reduced so that survival in all three cell strains was approximately the same (25%), recovery of the DNA synthetic rate was similar in all three cell strains. These results are discussed in terms of current models of DNA replication in uv-irradiated cells and indicate: (1) that pyrimidine dimers are very effective blocks to DNA synthesis and (2) that there is no inherent defect in semi-conservative DNA synthesis in either classical XP or XP variant cells which is independent of a defect in DNA repair capacity.

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.

Science.gov (United States)

Bowden, Nikola A; Beveridge, Natalie J; Ashton, Katie A; Baines, Katherine J; Scott, Rodney J

2015-07-14

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion synthesis, POLH. The clinical symptoms and severity of the disease is varied across the subgroups, which does not correlate with the functional position of the affected protein in the NER pathway. The aim of this study was to further understand the biology of XP subgroups, particularly those that manifest with neurological symptoms. Whole genome gene expression profiling of fibroblasts from each XP complementation group was assessed before and after UV-light exposure. The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation. Patients from the subgroups XP-B and XP-F were the only subgroups to have transcripts associated with neuronal activity altered after UV-light exposure. This study will assist in furthering our understanding of the different subtypes of XP which will lead to better diagnosis, treatment and management of the disease.

The Influence of Task Dynamics on Inductive Generalizations: How Sequential and Simultaneous Presentation of Evidence Impacts the Strength and Scope of Property Projections

Science.gov (United States)

Lawson, Chris A.

2017-01-01

Young children are remarkably flexible reasoners insofar as they modify their inferences to accommodate the conceptual information or perceptual relations represented in an inductive problem. Children's inductive reasoning is highly sensitive to what evidence is presented to them. Four experiments with 115 preschoolers (M[subscript age] = 4;8) and…

The remarkably high excitation planetary nebula GC 6537.

Science.gov (United States)

Aller, L H; Hung, S; Feibelman, W A

1999-05-11

NGC 6537 is an unusually high excitation point symmetric planetary nebula with a rich spectrum. Its kinematical structures are of special interest. We are here primarily concerned with the high resolution spectrum as revealed by the Hamilton echelle Spectrograph at Lick Observatory (resolution approximately 0.2 A) and supplemented by UV and near-UV data. These extensive data permit a determination of interstellar extinction, plasma diagnostics, and ionic concentrations. The photoionization models that have been used successfully for many planetary nebulae are not entirely satisfactory here. The plasma electron temperature of a photoionization model cannot much exceed 20,000 K, but plasma diagnostics show that regions emitting radiation of highly ionized atoms such as [NeIV] and [NeV] are much hotter, showing that shock excitation must be important, as suggested by the remarkable kinematics of this object. Hence, instead of employing a strict photoionization model, we are guided by the nebular diagnostics, which reveal how electron temperature varies with ionization potential and accommodates density effects. The predictions of the photoionization model may be useful in estimating ionization correction factor. In effect, we have estimated the chemical composition by using both photoionization and shock considerations.

Evidence for {open_quotes}magnetic rotation{close_quotes} in nuclei: New results on the M1-bands of {sup 198,199}Pb

Energy Technology Data Exchange (ETDEWEB)

Clark, R.M. [Lawrence Berkeley National Lab., CA (United States)

1996-12-31

Lifetimes of states in four of the M1-bands in {sup 198,199}Pb have been determined through a Doppler Shift Attenuation Method measurement performed using the Gammasphere array. The deduced B(M1) values, which are a sensitive probe of the underlying mechanism for generating these sequences, show remarkable agreement with Tilted Axis Cranking (TAC) calculations. Evidence is also presented for the possible termination of the bands. The results represent clear evidence for a new concept in nuclear excitations: {open_quote}magnetic rotation{close_quote}.

Architecture and Design in eXtreme Programming; Introducing "Developer Stories"

DEFF Research Database (Denmark)

Jensen, Rolf Njor; Møller, Thomas; Sönder, Peter

2006-01-01

This article introduces a new practice to eXtreme Programming (XP): Developer stories. The goal of these stories and their creation process is to incorporate architectural planning to XP thus ensuring a viable architecture. By conducting a small development project using XP, we find that establis...

A remarkable representation of the SO(3,2) Kac-Moody algebra

International Nuclear Information System (INIS)

Dobrev, V.K.; Sezgin, E.

1990-01-01

We construct a minimal representation of the SO(3,2) Kac-Moody algebra algebra which is based on the spin-zero singleton (the Rac) representation of SO(3,2). The representation is minimal in the sense that the central charge k of the SO(3,2) Kac-Moody algebra is chosen to take the special value of 5/2 which allows the imposition of maximum number of reducibility conditions. For the Rac, this is the unique choice for the remarkable property of maximum reducibility which is consistent with unitarity. To ensure unitarity, we furthermore impose invariance condition under the maximal compact subalgebra SO(3) x SO(2). (author). 19 refs, 1 fig

Human diseases with genetically altered DNA repair processes

International Nuclear Information System (INIS)

Cleaver, J.E.; Bootsma, D.; Friedberg, E.

1975-01-01

DNA repair of single-strand breaks (produced by ionizing radiation) and of base damage (produced by ultraviolet (uv) light) are two repair mechanisms that most mammalian cells possess. Genetic defects in these repair mechanisms are exemplified by cells from the human premature-aging disease, progeria, which fail to rejoin single-strand breaks, and the skin disease, xeroderma pigmentosum (XP), which exhibits high actinic carcinogenesis and involves failure to repair base damage. In terms of the response of XP cells, many chemical carcinogens can be classified as either x-ray-like (i.e., they cause damage that XP cells can repair) or uv-like (i.e., they cause damage that XP cells cannot repair). The first group contains some of the more strongly carcinogenic chemicals (e.g., alkylating agents). XP occurs in at least two clinical forms, and somatic cell hybridization indicates at least three complementation groups. In order to identify cell lines from various different laboratories unambiguously, a modified nomenclature of XP lines is proposed. (U.S.)

Human diseases with genetically altered DNA repair processes

International Nuclear Information System (INIS)

Cleaver, J.E.; Bootsma, D.; Friedberg, E.

1975-01-01

DNA repair of single-strand breaks (produced by ionizing radiation) and of base damage (produced by ultraviolet (UV) light) are two repair mechanisms that most mammalian cells possess. Genetic defects in these repair mechanisms are exemplified by cells from the human premature-aging disease, progeria, which fail to rejoin single-strand breaks, and the skin disease, xeroderma pigmentosum (XP), which exhibits high actinic carcinogenesis and involves failure to repair base damage. In terms of the response of XP cells, many chemical carcinogens can be classified as either X-ray-like (i.e., they cause damage that XP cells can repair) or UV-like (i.e., they cause damage that XP cells cannot repair). The first group contains some of the more strongly carcinogenic chemicals (e.g., alkylating agents). XP occurs in at least two clinical forms, and somatic cell hybridization indicates at least three complementation groups. In order to identify cell lines from various different laboratories unambiguously, a modified nomenclature of XP lines is proposed

No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

Directory of Open Access Journals (Sweden)

Hye Jin Lee

2014-09-01

Full Text Available PurposeWhether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq play a role in three-year height response to growth hormone (GH were investigated.MethodsPaternal (Xp or maternal (Xm origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht in Turner syndrome (TS patients with 45,Xp (n=10, 45,Xm (n=15, and 45,X/46,X,+mar(Y (Xm_Yseq (n=8.ResultsThe mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04. There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001, such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017.ConclusionThere was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y.

Concluding remarks and outlook: Europhysics conference on flavor-mixing in weak interactions

International Nuclear Information System (INIS)

Chau, L.L.

1984-01-01

Some comments are offered on the present knowledge of the mixing matrix of Kobayashi and Maskawa and of the dynamics of nonleptonic decay. Also, remarks are made concerning CP violation. Plans for research from 1984 to 1989 are listed briefly. The history of studies on weak interactions is briefly reviewed, and several unanswered questions are stated, such as where are the truth particles, how may they be discovered, what is the mass-generating mechanism for the gauge bosons, how many Z 0 's and W's are there, do neutrinos have mass, and how long do protons live

A Remarkable Collection of Rare Scriptures in a Small University Library Setting

Directory of Open Access Journals (Sweden)

Teresa Cardin Ellis

2013-04-01

Full Text Available Hardin-Simmons University was given two remarkable collections of rare Bibles and a Sefer Torah with the expressed desire of the donors for the collections to be shared with students, faculty and other constituencies of the university's Richardson Library. The library has tried to fulfill this request while attempting to preserve these treasures for future generations. As small university, without a trained archivist or preservationist, we have utilized resources outside our library and contiue to pursue sources to assist us in the maintenance of these special collections while still engaging them in the educational process.

Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A.

Science.gov (United States)

Cadzow, Murray; Merriman, Tony R; Boocock, James; Dalbeth, Nicola; Stamp, Lisa K; Black, Michael A; Visscher, Peter M; Wilcox, Phillip L

2016-11-15

The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high levels of population differentiation and increased frequencies of the derived type 2 diabetes (T2D) risk 482Ser allele, and association with body mass index (BMI) in a small Tongan population. However, no direct statistical tests for selection have been applied. Using a range of Polynesian populations (Tongan, Māori, Samoan) we re-examined evidence for association between Gly482Ser with T2D and BMI as well as gout. Using also Asian, European, and African 1000 Genome Project samples a range of statistical tests for selection (F ST , integrated haplotype score (iHS), cross population extended haplotype homozygosity (XP-EHH), Tajima's D and Fay and Wu's H) were conducted on the PPARGC1A locus. No statistically significant evidence for association between Gly482Ser and any of BMI, T2D or gout was found. Population differentiation (F ST ) was smallest between Asian and Pacific populations (New Zealand Māori ≤ 0.35, Samoan ≤ 0.20). When compared to European (New Zealand Māori ≤ 0.40, Samoan ≤ 0.25) or African populations (New Zealand Māori ≤ 0.80, Samoan ≤ 0.66) this differentiation was larger. We did not find any strong evidence for departure from neutral evolution at this locus when applying any of the other statistical tests for selection. However, using the same analytical methods, we found evidence for selection in specific populations at previously identified loci, indicating that lack of selection was the most likely explanation for the lack of evidence of selection in PPARGC1A. We conclude that there is no compelling evidence for selection at this locus, and that this gene should not be considered a candidate thrifty gene locus in Pacific populations. High levels of population differentiation at this locus and the

NCBI nr-aa BLAST: CBRC-ETEL-01-0405 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ETEL-01-0405 ref|XP_001164748.1| PREDICTED: solute carrier family 23 (nucleobase transporters...), member 2 isoform 2 [Pan troglodytes] ref|XP_001164789.1| PREDICTED: solute carrier family 23 (nucleobase transporte...rs), member 2 isoform 3 [Pan troglodytes] XP_001164748.1 1e-176 90% ...

Repair of damage by ultraviolet radiation in xeroderma pigmentosum cell strains of complementation groups E and F

NARCIS (Netherlands)

Zelle, B.; Berends, F.; Lohman, P.H.M.

1980-01-01

The xeroderma pignemtosum fibroblast strains XP2RO, complementation group E, and XP23OS, group F were compared with normal human primary fibroblasts UV. regard to repair of damage induced by 254-nn UV> In XP2RO cells, repair DNA synthesis, measured by autoradiography (unscheduled DNA synthesis =

Evidence for valence neutron capture in s-wave neutron capture in 38Ar and 54Fe

International Nuclear Information System (INIS)

Mughabghab, S.F.

1975-01-01

The valence and channel neutron model of Lane and Lynn remarkably account for partial radiative widths of neutron resonances in the 3p-giant resonance. Evidence is presented for valence neutron capture at and in the neighborhood of the 3s-giant resonance in target nuclei 36 Ar and 54 Fe. In addition, the variation of the correlation coefficient rho with the reduction power factor n of the γ ray energy is studied. (4 figures, 1 table) (U.S.)

Localization of ultraviolet-induced excision repair in the nucleus and the distribution of repair events in higher order chromatin loops in mammalian cells

Energy Technology Data Exchange (ETDEWEB)

Mullenders, L.H.F.; Zeeland, A.A. van; Natarajan, A.T.

1987-01-01

Several lines of evidence indicate that eukaryotic DNA is arranged in highly supercoiled domains or loops, and that the repeating loops are constrained by attachment to a nuclear skeletal structure termed the nuclear matrix. We have investigated whether the repair of DNA damage occurs in the nuclear matrix compartment. Normal human fibroblasts, ultraviolet (u.v.)-irradiated with 30 J m/sup -2/ and post-u.v. incubated in the presence of hydroxyurea, did not show any evidence for the occurrence of repair synthesis at the nuclear matrix. 5 J m/sup -2/ repair synthesis seems to initiate at the nuclear matrix, although only part of the total repair could be localized there. In u.v.-irradiated (30 J m/sup -2/) normal human fibroblast post-u.v. incubated in the presence of hydroxyurea and arabinsosylcytosine for 2h, multiple single-stranded regions are generated in a DNA loop as a result of the inhibition of the excision repair process. Preferential repair of certain domains in the chromatin was shown to occur in xeroderma pigmentosum cells of complementation group C (XP-C) in contrast to XP-D cells and Syrian hamster embryonic cells.

The localization of ultraviolet-induced excision repair in the nucleus and the distribution of repair events in higher order chromatin loops in mammalian cells

International Nuclear Information System (INIS)

Mullenders, L.H.F.; Zeeland, A.A. van; Natarajan, A.T.

1987-01-01

Several lines of evidence indicate that eukaryotic DNA is arranged in highly supercoiled domains or loops, and that the repeating loops are constrained by attachment to a nuclear skeletal structure termed the nuclear matrix. We have investigated whether the repair of DNA damage occurs in the nuclear matrix compartment. Normal human fibroblasts, ultraviolet (u.v.)-irradiated with 30 J m -2 and post-u.v. incubated in the presence of hydroxyurea, did not show any evidence for the occurrence of repair synthesis at the nuclear matrix. 5 J m -2 repair synthesis seems to initiate at the nuclear matrix, although only part of the total repair could be localized there. In u.v.-irradiated (30 J m -2 ) normal human fibroblast post-u.v. incubated in the presence of hydroxyurea and arabinsosylcytosine for 2h, multiple single-stranded regions are generated in a DNA loop as a result of the inhibition of the excision repair process. Preferential repair of certain domains in the chromatin was shown to occur in xeroderma pigmentosum cells of complementation group C (XP-C) in contrast to XP-D cells and Syrian hamster embryonic cells. (author)

NCBI nr-aa BLAST: CBRC-EEUR-01-0952 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-EEUR-01-0952 ref|NP_003851.1| barrier to autointegration factor 1 [Homo sapien...s] ref|NP_892033.1| barrier to autointegration factor 1 [Bos taurus] ref|XP_854776.1| PREDICTED: similar to barrier to autointegratio...n factor 1 [Canis familiaris] ref|XP_001111817.1| PREDICTED: similar to barrier to autointegration...: similar to barrier to autointegration factor 1 isoform 2 [Macaca mulatta] ref|XP_001111884.1| PREDICTED: s...imilar to barrier to autointegration factor 1 isoform 3 [Macaca mulatta] ref|XP_001111924.1| PREDICTED: similar to barrier to autoint

A child with xeroderma pigmentosum for excision of basal cell carcinoma

Directory of Open Access Journals (Sweden)

Sridevi M Mulimani

2013-01-01

Full Text Available Xeroderma pigmentosum (XP is characterized by hypersensitivity to sunlight, ocular involvement, and progressive neurological complications. These manifestations are due to a cellular hypersensitivity to ultraviolet radiation leading to a defect in repair of DNA by the process of nucleotide excision repair. Basal cell carcinoma which is rare in children can occur with XP. Though the XP induced changes are predominately dermatologic, pose several challenges in anaesthetic management. Hence, we are reporting a 9-year-old child with XP scheduled for excision of basal cell carcinoma under general anaesthesia.

Alert Regarding Cisplatin-induced Severe Adverse Events in Cancer Patients with Xeroderma Pigmentosum.

Science.gov (United States)

Sumiyoshi, Makoto; Soda, Hiroshi; Sadanaga, Noriaki; Taniguchi, Hirokazu; Ikeda, Takaya; Maruta, Hiroshi; Dotsu, Yosuke; Ogawara, Daiki; Fukuda, Yuichi; Mukae, Hiroshi

2017-01-01

Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that treatment with CDDP may cause enhanced adverse events as well as anti-tumor activity in cancer patients with XP. This article is the first to describe two cancer patients with XP showing severe adverse events following CDDP-based chemotherapy. Physicians should pay attention when administering CDDP in cancer patients with XP.

Herpes virus production as a marker of repair in ultra-violet irradiated human skin cells of different origin

Energy Technology Data Exchange (ETDEWEB)

Coppey, J; Nocentini, S; Menezes, S [Institut du Radium, 75 - Paris (France). Lab. Curie; Moreno, G

1979-07-01

Human skin fibroblast cultures were irradiated with ultraviolet light 0 to 48 hours before infection with herpes simplex virus type 1 (HSV). Different viral yields were obtained according to the origin of the host cells. Cells from normal donors showed a dose-dependent recovery of HSV production during the 36-40 hours following U.V. exposure. The recovery was maximal for a dose at which a plateau level of unscheduled DNA synthesis (UDS) was reached (24Jm/sup -2/). In a xeroderma pigmentosum (XP) heterozygote line from a mother of XP children, the level of UDS after irradiation up to 48 Jm/sup -2/ was normal whereas the extent of recovery of HSV production capacity was lower than normal. In strains from XP children, with a normal UDS (XP variants), the recovery process was slower and its extent was lower than in normal or XP heterozygote cells. Excision-deficient XP strains from XP children presented little or no recovery, the extent of which was in good agreement with the corresponding level of UDS. Measurement of this recovery seems to be a very sensitive assay for detecting differences in the repair abilities of U.V.-irradiated human skin cells of various origins.

Concluding Remarks: The Current Status and Future Prospects for GRB Astronomy

Science.gov (United States)

Gehrels, Neil

2009-01-01

We are in a remarkable period of discovery in GRB astronomy. The current satellites including Swift, Fermi. AGILE and INTEGRAL are detecting and observing bursts of all varieties. Increasing capabilities for follow-up observations on the ground and in space are leading to rapid and deep coverage across the electromagnetic spectrum, The future will see continued operation of the current experiments and with future missions like SVOM plus possible rni_Ssions like JANUS and EXIST. An exciting expansion of capabilities is occurring in areas of gravitational waves and neutrinos that could open new windows on the GRB phenomenon. Increased IR capabilities on the ground and with missions like JWST will enable further exploration of high redshift bursts. The future is bright.

On the remarkable spectrum of a non-Hermitian random matrix model

International Nuclear Information System (INIS)

Holz, D E; Orland, H; Zee, A

2003-01-01

A non-Hermitian random matrix model proposed a few years ago has a remarkably intricate spectrum. Various attempts have been made to understand the spectrum, but even its dimension is not known. Using the Dyson-Schmidt equation, we show that the spectrum consists of a non-denumerable set of lines in the complex plane. Each line is the support of the spectrum of a periodic Hamiltonian, obtained by the infinite repetition of any finite sequence of the disorder variables. Our approach is based on the 'theory of words'. We make a complete study of all four-letter words. The spectrum is complicated because our matrix contains everything that will ever be written in the history of the universe, including this particular paper

Remarkable reduction of thermal conductivity in phosphorene phononic crystal

International Nuclear Information System (INIS)

Xu, Wen; Zhang, Gang

2016-01-01

Phosphorene has received much attention due to its interesting physical and chemical properties, and its potential applications such as thermoelectricity. In thermoelectric applications, low thermal conductivity is essential for achieving a high figure of merit. In this work, we propose to reduce the thermal conductivity of phosphorene by adopting the phononic crystal structure, phosphorene nanomesh. With equilibrium molecular dynamics simulations, we find that the thermal conductivity is remarkably reduced in the phononic crystal. Our analysis shows that the reduction is due to the depressed phonon group velocities induced by Brillouin zone folding, and the reduced phonon lifetimes in the phononic crystal. Interestingly, it is found that the anisotropy ratio of thermal conductivity could be tuned by the ‘non-square’ pores in the phononic crystal, as the phonon group velocities in the direction with larger projection of pores is more severely suppressed, leading to greater reduction of thermal conductivity in this direction. Our work provides deep insight into thermal transport in phononic crystals and proposes a new strategy to reduce the thermal conductivity of monolayer phosphorene. (paper)

Repair of DNA in xeroderma pigmentosum conjunctiva

International Nuclear Information System (INIS)

Newsome, D.A.; Kraemer, K.H.; Robbins, J.H.

1975-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive disease with tumor formation on sun-exposed areas of the skin and eyes. Cells from most XP patients are deficient in repairing DNA damaged by ultraviolet (uv) light as shown by a reduced rate of tritiated thymidine (3HTdR) incorporation during their DNA repair synthesis. We have studied such repair synthesis in conjunctival cells from an XP patient with a conjunctival epithelioma and from normal cadaver conjunctiva. Cultured conjunctival cells were irradiated with uv light and then incubated with 3HTdR. Autoradiograms were prepared and showed that uv radiation induced a considerably slower rate of DNA repair synthesis in the XP cells than in normal cells. Many of the ocular abnormalities of XP, including tumor formation, may be the result of this defective DNA repair process

Can the BMS Algorithm Decode Up to \\lfloor \\frac{d_G-g-1}{2}\\rfloor Errors? Yes, but with Some Additional Remarks

Science.gov (United States)

Sakata, Shojiro; Fujisawa, Masaya

It is a well-known fact [7], [9] that the BMS algorithm with majority voting can decode up to half the Feng-Rao designed distance dFR. Since dFR is not smaller than the Goppa designed distance dG, that algorithm can correct up to \\lfloor \\frac{d_G-1}{2}\\rfloor errors. On the other hand, it has been considered to be evident that the original BMS algorithm (without voting) [1], [2] can correct up to \\lfloor \\frac{d_G-g-1}{2}\\rfloor errors similarly to the basic algorithm by Skorobogatov-Vladut. But, is it true? In this short paper, we show that it is true, although we need a few remarks and some additional procedures for determining the Groebner basis of the error locator ideal exactly. In fact, as the basic algorithm gives a set of polynomials whose zero set contains the error locators as a subset, it cannot always give the exact error locators, unless the syndrome equation is solved to find the error values in addition.

Chemosensitivity of primary human fibroblasts with defective unhooking of DNA interstrand cross-links

International Nuclear Information System (INIS)

Clingen, Peter H.; Arlett, Colin F.; Hartley, John A.; Parris, Christopher N.

2007-01-01

Xeroderma pigmentosum (XP) is characterised by defects in nucleotide excision repair, ultraviolet (UV) radiation sensitivity and increased skin carcinoma. Compared to other complementation groups, XP-F patients show relatively mild cutaneous symptoms. DNA interstrand cross-linking agents are a highly cytotoxic class of DNA damage induced by common cancer chemotherapeutics such as cisplatin and nitrogen mustards. Although the XPF-ERCC1 structure-specific endonuclease is required for the repair of ICLs cellular sensitivity of primary human XP-F cells has not been established. In clonogenic survival assays, primary fibroblasts from XP-F patients were moderately sensitive to both UVC and HN2 compared to normal cells (2- to 3-fold and 3- to 5-fold, respectively). XP-A fibroblasts were considerably more sensitive to UVC (10- to 12-fold) but not sensitive to HN2. The sensitivity of XP-F fibroblasts to HN2 correlated with the defective incision or 'unhooking' step of ICL repair. Using the comet assay, XP-F cells exhibited only 20% residual unhooking activity over 24 h. Over the same time, normal and XP-A cells unhooked greater than 95% and 62% of ICLs, respectively. After HN2 treatment, ICL-associated DNA double-strand breaks (DSBs) are detected by pulse field gel electrophoresis in dividing cells. Induction and repair of DNA DSBs was normal in XP-F fibroblasts. These findings demonstrate that in primary human fibroblasts, XPF is required for the unhooking of ICLs and not for the induction or repair of ICL-associated DNA DSBs induced by HN2. In terms of cancer chemotherapy, people with mild DNA repair defects affecting ICL repair may be more prevalent in the general population than expected. Since cellular sensitivity of primary human fibroblasts usually reflects clinical sensitivity such patients with cancer would be at risk of increased toxicity

The Diamond Light Source and the challenges ahead for structural biology: some informal remarks.

Science.gov (United States)

Ramakrishnan, V

2015-03-06

The remarkable advances in structural biology in the past three decades have led to the determination of increasingly complex structures that lie at the heart of many important biological processes. Many of these advances have been made possible by the use of X-ray crystallography using synchrotron radiation. In this short article, some of the challenges and prospects that lie ahead will be summarized. © 2015 The Author(s) Published by the Royal Society. All rights reserved.

Remarkable Diversity and Prevalence of Dagger Nematodes of the Genus Xiphinema Cobb, 1913 (Nematoda: Longidoridae) in Olives Revealed by Integrative Approaches.

Science.gov (United States)

Archidona-Yuste, Antonio; Navas-Cortés, Juan A; Cantalapiedra-Navarrete, Carolina; Palomares-Rius, Juan E; Castillo, Pablo

2016-01-01

The genus Xiphinema includes a remarkable group of invertebrates of the phylum Nematoda comprising ectoparasitic animals of many wild and cultivated plants. Damage is caused by direct feeding on root cells and by vectoring nepoviruses that cause diseases on several crops. Precise identification of Xiphinema species is critical for launching appropriate control measures. We make available the first detailed information on the diversity and distribution of Xiphinema species infesting wild and cultivated olive in a wide-region in southern Spain that included 211 locations from which 453 sampling sites were analyzed. The present study identified thirty-two Xiphinema spp. in the rhizosphere of olive trees, ten species belonging to Xiphinema americanum-group, whereas twenty-two were attributed to Xiphinema non-americanum-group. These results increase our current knowledge on the biodiversity of Xiphinema species identified in olives and include the description of four new species (Xiphinema andalusiense sp. nov., Xiphinema celtiense sp. nov., Xiphinema iznajarense sp. nov., and Xiphinema mengibarense sp. nov.), and two new records for cultivate olives (X. cadavalense and X. conurum). We also found evidence of remarkable prevalence of Xiphinema spp. in olive trees, viz. 85.0% (385 out of 453 sampling sites), and they were widely distributed in both wild and cultivated olives, with 26 and 17 Xiphinema spp., respectively. Diversity indexes (Richness, Hill´s diversity, Hill´s reciprocal of D and Hill´s evenness) were significantly affected by olive type. We also developed a comparative morphological and morphometrical study together with molecular data from three nuclear ribosomal RNA genes (D2-D3 expansion segments of 28S, ITS1, and partial 18S). Molecular characterization and phylogenetic analyses allowed the delimitation and discrimination of four new species of the genus described herein and three known species. Phylogenetic analyses of Xiphinema spp. resulted in a

Remarkable Diversity and Prevalence of Dagger Nematodes of the Genus Xiphinema Cobb, 1913 (Nematoda: Longidoridae) in Olives Revealed by Integrative Approaches

Science.gov (United States)

Archidona-Yuste, Antonio; Navas-Cortés, Juan A.; Cantalapiedra-Navarrete, Carolina; Palomares-Rius, Juan E.

2016-01-01

The genus Xiphinema includes a remarkable group of invertebrates of the phylum Nematoda comprising ectoparasitic animals of many wild and cultivated plants. Damage is caused by direct feeding on root cells and by vectoring nepoviruses that cause diseases on several crops. Precise identification of Xiphinema species is critical for launching appropriate control measures. We make available the first detailed information on the diversity and distribution of Xiphinema species infesting wild and cultivated olive in a wide-region in southern Spain that included 211 locations from which 453 sampling sites were analyzed. The present study identified thirty-two Xiphinema spp. in the rhizosphere of olive trees, ten species belonging to Xiphinema americanum-group, whereas twenty-two were attributed to Xiphinema non-americanum-group. These results increase our current knowledge on the biodiversity of Xiphinema species identified in olives and include the description of four new species (Xiphinema andalusiense sp. nov., Xiphinema celtiense sp. nov., Xiphinema iznajarense sp. nov., and Xiphinema mengibarense sp. nov.), and two new records for cultivate olives (X. cadavalense and X. conurum). We also found evidence of remarkable prevalence of Xiphinema spp. in olive trees, viz. 85.0% (385 out of 453 sampling sites), and they were widely distributed in both wild and cultivated olives, with 26 and 17 Xiphinema spp., respectively. Diversity indexes (Richness, Hill´s diversity, Hill´s reciprocal of D and Hill´s evenness) were significantly affected by olive type. We also developed a comparative morphological and morphometrical study together with molecular data from three nuclear ribosomal RNA genes (D2-D3 expansion segments of 28S, ITS1, and partial 18S). Molecular characterization and phylogenetic analyses allowed the delimitation and discrimination of four new species of the genus described herein and three known species. Phylogenetic analyses of Xiphinema spp. resulted in a

Taphonomic evidence for high-speed adapted fins in thunniform ichthyosaurs

Science.gov (United States)

Lingham-Soliar, Theagarten; Plodowski, Gerhard

2007-01-01

Ichthyosaurs have been compared with the fast-swimming thunniform groups of marine vertebrates, tuna, lamnid sharks, and dolphins, based on similarity of shape of the body and locomotory organs. In addition to shape, high-tensile stiffness of the control surfaces has been shown to be essential in maximizing hydrodynamic efficiency in extant thunniform swimmers. To date, there has been no evidence of a stiffening support system for the dorsal fin and dorsal lobe of the caudal fin in ichthyosaurs, the sole stiffening structure of the ventral lobe being an extension of the vertebral column along its leading edge. Stenopterygius SMF 457 is arguably the best soft-tissue preserved ichthyosaur specimen known. Here, we examine soft-tissue preservation in this specimen in the control surfaces and provide the first evidence of a complex architecture of stiff fibers in the dorsal and caudal fins. We find by comparisons and by analogy that these fibers provided a remarkable mechanism for high tensile stiffness and efficiency of the locomotory organs virtually identical to that of the great white shark, Carcharodon carcharias. It is the first mechanostructural study of the control surfaces of a Jurassic ichthyosaur that adds essential evidence in support of the view that these forms were high-speed thunniform swimmers.

Comprehension of direct and indirect sarcastic remarks in children and adolescents with Tourette's syndrome.

Science.gov (United States)

Drury, Helena; Shah, Shivani; Stern, Jeremy S; Crawford, Sarah; Channon, Shelley

2018-05-01

Previous research has reported that aspects of social cognition such as nonliteral language comprehension are impaired in adults with Tourette's syndrome (TS), but little is known about social cognition in children and adolescents with TS. The present study aims to evaluate a measure of sarcasm comprehension suitable for use with children and adolescents (Experiment 1), and to examine sarcasm comprehension in children and adolescents with TS-alone or TS and attention deficit hyperactivity disorder (ADHD; Experiment 2). In Experiment 1, the measure of sarcasm comprehension was found to be sensitive to differences in nonliteral language comprehension for typically-developing children aged 10 to 11 years old compared to children aged 8 to 9 years old; the older group performed significantly better on the comprehension of scenarios ending with either direct or indirect sarcastic remarks, whereas the two age groups did not differ on the comprehension of scenarios ending with sincere remarks. In Experiment 2, both the TS-alone and TS+ADHD groups performed below the level of the control participants on the comprehension of indirect sarcasm items but not on the comprehension of direct sarcasm items and sincere items. Those with TS+ADHD also performed below the level of the control participants on measures of interference control and fluency. The findings are discussed with reference to the possible contribution of executive functioning and mentalizing to the patterns of performance.

Inherited DNA repair defects in H. sapiens: their relation to uv-associated processes in xeroderma pigmentosum

International Nuclear Information System (INIS)

Robbins, J.H.; Kraemer, K.H.; Andrews, A.D.

1976-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive disease in which patients develop pigmentation abnormalities and numerous malignancies on areas of skin exposed to sunlight. Some XP patients have neurological abnormalities in addition to their cutaneous pathology. Genetic defects in DNA repair have now been found in all studied XP patients. Here, we shall review and present studies relating the different inherited DNA repair defects of XP to several uv-associated processes. Peripheral blood lymphocytes and skin fibroblasts obtained from patients were cultured and the uv-induced thymidine incorporation in DNA was measured by autoradiography or by scintillation spectroscopy

Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association

Science.gov (United States)

Amitava, Abadan K; Mehdi, Ghazala; Sharma, Rajeev; Alam, Mohammad S

2008-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically. PMID:18711275

On the Motivation and Foundation of Natural Time Analysis: Useful Remarks

Science.gov (United States)

Varotsos, Panayiotis A.; Sarlis, Nicholas V.; Skordas, Efthimios S.

2016-08-01

Since its introduction in 2001, natural time analysis has been applied to diverse fields with remarkable results. Its validity has not been doubted by any publication to date. Here, we indicate that frequently asked questions on the motivation and the foundation of natural time analysis are directly answered if one takes into account the following two key points that we have considered as widely accepted when natural time analysis was proposed: first, the aspects on the energy of a system forwarded by Max Planck in his Treatise on Thermodynamics; second, the theorem on the characteristic functions of probability distributions which Gauss called Ein Schönes Theorem der Wahrscheinlichkeitsrechnung (beautiful theorem of probability calculus). The case of the time series of earthquakes and of the precursory Seismic Electric Signals are discussed as typical examples.

Hypothermia and near-drowning associated with life-threatening injuries: A remarkable recovery: A case report

Directory of Open Access Journals (Sweden)

Tariq Cachalia

2016-08-01

Full Text Available A young male suffered multiple severe injuries after a fall and near-drowning. On presentation to the emergency department (ED, he was in a critical and unstable condition and his chances of survival were deemed very low. This case illustrates the management of the hypothermic multi-trauma patient and the remarkable recovery made possible by a high standard of care. Keywords: Polytrauma, Shock, Hypothermia, Coagulopathy, Trauma care

Remarks on the Colonized Libido: Trying to Think beyond Patriarchy

Directory of Open Access Journals (Sweden)

Hilan Bensusan

2004-01-01

Full Text Available In these remarks I attempt to think through some of the consequences of the way we conceive and live our desires. I try to contrast those desires with both our idea of freedom and the way we usually understand nature. This takes me quickly to issues such as pornography, male identity and then to how we gain and preserve our self-esteem. This, in turn, takes me to issues that are somehow linked to the institutional and emotional structures of patriarchy under a regime of heterosexuality as a norm. I try to consider these issues from the point of view of someone who was trained within the practices and thoughts of masculinity and is bothered by the consequences of such training. I endeavour to find a way to rethink the colonization of our desires so that we can find paths to an exercise of our capacities of desire that could be somehow freer.

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

Directory of Open Access Journals (Sweden)

Mariem Ben Rekaya

2014-01-01

Full Text Available Xeroderma pigmentosum Variant (XP-V form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Science.gov (United States)

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Naouali, Chokri; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

2014-01-01

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

Some remarks on the derivability of linear nonconservative systems from a Lagrangian

International Nuclear Information System (INIS)

Bahar, L.Y.; Kwatny, H.G.

1980-01-01

In this paper the linearization of the equations governing the behavior of large-scale interconnected electric power systems is carried out. It is shown that the perturbed equations of motion represent a linear, nonconservative dynamical system with arbitrary parameter matrices. Simplified conditions for the derivability of such systems from a Lagrangian are given. First integrals are derived when a certain commutativity relation is satisfied. It is shown that previously obtained results can be recovered as special cases of the present development. An example in which independent energy-like integrals are obtained by utilizing the results of this paper is given. Finally, a remark contained in a previous paper by the authors is clarified

A case of parotid tumor showing remarkable regression following hyperthermo-chemo-radiotherapy

International Nuclear Information System (INIS)

Fujimura, Takashi; Yonemura, Yutaka; Kamata, Toru

1987-01-01

A 72-year-old woman developed adenocarcinoma of the left parotid gland. Because of the excessive size of her tumor and the fact that she suffered from severe liver dysfunction, she was treated by hyperthermo-chemo-radiotherapy (HCR therapy). After ten sessions of radiofrequency hyperthermia with HEH 500 (13.56 MHz radiofrequency wave), 50-Gy irradiation from a linac and administration of 33.0 g of tegafur in suppository form, the tumor mass showed remarkable regression decreasing in size by as much as 84 % on computed tomography. Histologically, the tumor which was resected under local anesthesia, showed almost total necrosis. The multidisciplinary HCR therapy was well tolerated and effective as a therapy for cancer in this case. (author)

Evaluation of Organizational Readiness in Clinical Settings for Social Supporting Evidence-Based Information Seeking Behavior after Introducing IT in a Developing Country.

Science.gov (United States)

Kahouei, Mehdi; Alaei, Safollah; Panahi, Sohaila Sadat Ghazavi Shariat; Zadeh, Jamileh Mahdi

2015-01-01

The health sector of Iran has endeavored to encourage physicians and medical students to use research findings in their practice. Remarkable changes have occurred, including: holding computer skills courses, digital library workshops for physicians and students, and establishing websites in hospitals. The findings showed that a small number of the participants completely agreed that they were supported by supervisors and colleagues to use evidence-based information resources in their clinical decisions. Health care organizations in Iran need other organizational facilitators such as social influences, organizational support, leadership, strong organizational culture, and climate in order to implement evidence-based practice.

NCBI nr-aa BLAST: CBRC-XTRO-01-0200 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-0200 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-123 72% ...

NCBI nr-aa BLAST: CBRC-TNIG-07-0005 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TNIG-07-0005 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-163 80% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-2338 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-2338 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-123 64% ...

NCBI nr-aa BLAST: CBRC-OLAT-14-0010 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OLAT-14-0010 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-140 81% ...

NCBI nr-aa BLAST: CBRC-FRUB-02-0468 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-FRUB-02-0468 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-162 80% ...

NCBI nr-aa BLAST: CBRC-OANA-01-2123 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OANA-01-2123 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 3e-81 47% ...

NCBI nr-aa BLAST: CBRC-DRER-04-0033 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-04-0033 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 0.0 100% ...

NCBI nr-aa BLAST: CBRC-GACU-07-0059 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-07-0059 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-161 80% ...

NCBI nr-aa BLAST: CBRC-ACAR-01-1115 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ACAR-01-1115 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-144 72% ...

NCBI nr-aa BLAST: CBRC-DRER-04-0031 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-04-0031 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 0.0 100% ...

NCBI nr-aa BLAST: CBRC-TGUT-01-0030 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TGUT-01-0030 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-137 74% ...

NCBI nr-aa BLAST: CBRC-DRER-15-0167 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-15-0167 ref|XP_709805.1| PREDICTED: melatonin receptor 1B isoform 2 [Dani...o rerio] ref|XP_001333291.1| PREDICTED: similar to melatonin receptor 1B [Danio rerio] emb|CAI11795.1| melatonin... receptor 1B [Danio rerio] emb|CAM14076.1| melatonin receptor 1B [Danio rerio] XP_709805.1 1e-109 65% ...

A remarkable new genus of Protosmylinae (Neuroptera: Osmylidae) from late Eocene Florissant, Colorado.

Science.gov (United States)

Makarkin, Vladimir N

2017-05-18

Pseudosmylidia relicta gen. et sp. nov. (Neuroptera: Osmylidae) is described from the late Eocene of Florissant (U.S.A., Colorado). It is assigned to the subfamily Protosmylinae based on the presence of two venational features characteristic of the subfamily: most crossveins in the radial to intramedial spaces of the forewing are arranged in four gradate series, and CuP is short and simple or forked only once in the hind wing. This genus is remarkable by CuP in the forewing bearing few pectinate branches. This is the only genus of extant and Cenozoic fossil Osmylidae in which this plesiomorphic condition is retained.

Late brain metastases from breast cancer: clinical remarks on 11 patients and review of the literature.

Science.gov (United States)

Piccirilli, Manolo; Sassun, Tanya Enny; Brogna, Christian; Giangaspero, Felice; Salvati, Maurizio

2007-01-01

Late brain metastases from breast cancer are a rare event. Only a few cases have been reported in the English literature. The authors describe the clinical and pathological remarks, together with treatment modalities, removal extent and overall survival, of 11 patients in whom brain metastases were detected more than 10 years from the primary tumor. Between January 1997 and April 2001, we hospitalized 11 patients, all females, with a histologically proven diagnosis of brain metastasis from breast invasive ductal carcinoma. We defined 'late metastasis' as those metastases that appeared at least 10 years after the breast cancer diagnosis. The median age at the moment of brain metastasis diagnosis was 59 years (range, 47-70), with a median latency time from breast cancer diagnosis of 16 years (range, 11-30). Ten patients underwent surgery followed by adjuvant radiotherapy (whole brain radiotherapy). Two of them received, after whole brain radiotherapy, stereotaxic radio surgery treatment. One patient had stereotaxic brain biopsy, performed by neuronavigator, followed by palliative corticosteroid therapy. Median survival after brain metastasis diagnosis was 28 months (range, 3 months-4 years). Although late brain metastases are a rare event, specific neurologic symptoms and neuroradiological evidence of a cerebral neoplasm should be correlated to the presence of a cerebral metastasis, in a patient with a previous history of breast cancer. The longer latency time from breast cancer to brain metastasis could be explained by the "clonal dominance" theory and by different genetic alterations of the metastatic cell, which could influence the clinical history of the disease.

Opening remarks; special session 4. Burning issues and smoke screens: heat and light in southern forests

Science.gov (United States)

Peter J. Roussopoulos

1998-01-01

In Roussopoulos’ opening remarks he included nine assertions about southern forests: 1) that their characteristics are unique; 2) that they recovered from abusive agricultural practices and exploitive forest extraction in the 19th and early 20th centuries; 3) that they are brand new; 4) that social forces driving change will intensify at all scales; 5) that the...

Identification of genes and proteins involved in excision repair of human cells

International Nuclear Information System (INIS)

Hoeijmakers, J.H.J.; Westerveld, A.; Van Duin, M.; Vermeulen, W.; Odijk, H.; De Wit, J.; Bootsma, D.

1986-01-01

The autosomal, recessive disorder xeroderma pigmentosum (XP) is characterized by extreme sensitivity of the skin to sun exposure and prediposition to skin cancer. The basic defect in most XP patients is thought to reside in an inefficient removal of UV-induced lesions in the DNA by excision repair. The biochemical complexity of this process is amply illustrated by the fact that so far nine complementary groups within this syndrome have been identified. Despite extensive research, none of these genes or proteins involved have been isolated. Using a microinjection assay system the authors identified components in crude cell extracts that transiently correct the defect in (injected) fibroblasts of all excision-deficient XP complementation groups, as indicated by temporary restoration of UV-induced unscheduled DNA synthesis. This correction is complementation group specific, since it is only found when extracts from complementing XP cells are injected. After incubation of extracts with proteinase K the XP-A and KP-G correcting activities were lost, indicating that the complementation is due to proteins. The XP-A correcting protein was found to precipitate between 30 and 60% ammonium sulfate saturation. Furthermore this protein binds to DEAE-cellulose and to (UV-irradiated) double-strand (ds) DNA attached to cellulose. The latter affinity chromatography step allows a considerable purification, since less than 1% of the proteins applied to such columns is retained. It has to be established whether the XP-A correcting proteins binds by itself or via other proteins to the UV-irradiated DNA and whether it also binds to nonirradiated (ds or ss) DNA. Similar experiments with the XP-G correcting protein are in progress

Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany

International Nuclear Information System (INIS)

Thielmann, H.W.; Popanda, O.; Edler, L.; Jung, E.G.

1991-01-01

Sixty-one xeroderma pigmentosum (XP) patients living in the Federal Republic of Germany were investigated. Clinical symptoms were correlated with DNA repair parameters measured in fibroblasts grown from skin biopsies. Classification according to the international complementation groups revealed that of the 61 patients 3 belonged to group A, 26 to group C, 16 to group D, 3 to group E, and 2 to group F; 11 were of the XP variant type. A striking clinical aspect was the frequency of histogenetically different skin tumors varying from one XP complementation group to the other: squamous and basal cell carcinomas predominated in XP group C; lentigo maligna melanomas were most frequent in group D; basal cell carcinomas occurred preferentially in group E and XP variants. Three DNA repair parameters were determined for 46 fibroblast strains: colony-forming ability (D0); DNA repair synthesis (G0); and DNA-incising capacity (E0). Dose-response experiments with up to 13 dose levels were performed throughout to achieve sufficient experimental accuracy. DNA-damaging treatments included UV light, the 'UV-like' carcinogen N-acetoxy-2-acetylaminofluorene, and the alkylating carcinogens methyl methanesulfonate and N-methyl-N-nitrosourea. Comparison of clinical signs and repair data was made on the basis of D0, G0, and E0 values of both individual cell strains and weighted means of XP complementation groups. Despite considerable clinical and biochemical heterogeneity within complementation groups distinctive features emerged. In general, D0, G0, and E0 values of all XP strains investigated, including XP variants, were found to be reduced upon treatment with UV light or N-acetoxy-2-acetylaminofluorene

Persistence of Repair Proteins at Unrepaired DNA Damage Distinguishes Diseases with ERCC2 (XPD) Mutations: Cancer-Prone Xeroderma Pigmentosum vs. Non-Cancer-Prone Trichothiodystrophy

Science.gov (United States)

Boyle, Jennifer; Ueda, Takahiro; Oh, Kyu-Seon; Imoto, Kyoko; Tamura, Deborah; Jagdeo, Jared; Khan, Sikandar G.; Nadem, Carine; DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations in the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free. Unlike XP cells, TTD cells have a nearly normal rate of removal of UV-induced 6-4 photoproducts (6-4PP) in their DNA and low levels of the basal transcription factor, TFIIH. We examined seven XP, TTD, and XP/TTD complex patients and identified mutations in the XPD gene. We discovered large differences in nucleotide excision repair (NER) protein recruitment to sites of localized UV damage in TTD cells compared to XP or normal cells. XPC protein was rapidly localized in all cells. XPC was redistributed in TTD, and normal cells by 3 hr postirradiation, but remained localized in XP cells at 24-hr postirradiation. In XP cells recruitment of other NER proteins (XPB, XPD, XPG, XPA, and XPF) was also delayed and persisted at 24 hr (p < 0.001). In TTD cells with defects in the XPD, XPB, or GTF2H5 (TTDA) genes, in contrast, recruitment of these NER proteins was reduced compared to normals at early time points (p < 0.001) and remained low at 24 hr postirradiation. These data indicate that in XP persistence of NER proteins at sites of unrepaired DNA damage is associated with greatly increased skin cancer risk possibly by blockage of translesion DNA synthesis. In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer. PMID:18470933

Mutagenesis and lethality following S phase irradiation of xeroderma pigmentosum and normal human diploid fibroblasts with ultraviolet light

International Nuclear Information System (INIS)

Grosovsky, A.J.; Little, J.B.

1983-01-01

The mutagenic and lethal effects of u.v. light exposure in the DNA synthetic phase of the cell cycle were determined in xeroderma pigmentosum complementation group A (XP-A), hereditary adenomatosis of the colon and rectum (ACR), and a normal, foreskin derived cell strain (AG1522). For AG1522, an increased sensitivity to the cytotoxic effects of u.v. light was observed as compared to previous findings for confluent, non-proliferating cultures. XP-A fibroblasts were markedly hypersensitive and ACR fibroblasts exhibited an intermediate response. The mutagenic response of ACR fibroblasts, however, was similar to normal fibroblasts. A threshold of 1.5-2 J/m 2 was observed for u.v. induced mutagenesis in normal and ACR fibroblasts. XP fibroblasts, on the other hand, were strikingly hypermutable and demonstrated little or no threshold. When S phase mutagenesis was considered as a function of survival level rather than u.v. light dose, XP fibroblasts remained significantly hypermutable as compared with normal fibroblasts at all survival levels. Previous mutagenesis results with confluent, non-proliferating cultures of XP and normal fibroblasts were reanalyzed as a function of cytotoxicity; XP hypermutability at all survival levels was also observed. (author)

Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.

Science.gov (United States)

Alwatban, Lenah; Binamer, Yousef

2017-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system. Describe the dermatologic manifestations in patients suffering from XP. Retrospective, descriptive review of medical records. Dermatology clinic at tertiary care center in Riyadh. This study included Saudi patients with clinically confirmed XP. Demographic and clinical data including pathology and associated conditions and outcomes. Of 21 patients with XP, the most common manifestation was lentigines, affecting 18 patients (86%). The most common skin cancer was basal cell carcinoma followed by squamous cell carcinoma (SCC) affecting 15 (71.4%) and 9 (42.8%), respectively. Other skin findings included neurofibroma, trichilemmoma and seborrheic keratosis. Ocular involvement included photophobia, which was the most common finding followed by dryness and ocular malignancies. Two patients showed neurological involvement, which correlated with the type of mutation. Considering that XP is a rare genetic disease, this description of our patient population will aid in early recognition and diagnosis. Retrospective and small number of patients. Genetic analyses were done for only 5 of the 21 patients.

Evidence for van der Waals adhesion in gecko setae.

Science.gov (United States)

Autumn, Kellar; Sitti, Metin; Liang, Yiching A; Peattie, Anne M; Hansen, Wendy R; Sponberg, Simon; Kenny, Thomas W; Fearing, Ronald; Israelachvili, Jacob N; Full, Robert J

2002-09-17

Geckos have evolved one of the most versatile and effective adhesives known. The mechanism of dry adhesion in the millions of setae on the toes of geckos has been the focus of scientific study for over a century. We provide the first direct experimental evidence for dry adhesion of gecko setae by van der Waals forces, and reject the use of mechanisms relying on high surface polarity, including capillary adhesion. The toes of live Tokay geckos were highly hydrophobic, and adhered equally well to strongly hydrophobic and strongly hydrophilic, polarizable surfaces. Adhesion of a single isolated gecko seta was equally effective on the hydrophobic and hydrophilic surfaces of a microelectro-mechanical systems force sensor. A van der Waals mechanism implies that the remarkable adhesive properties of gecko setae are merely a result of the size and shape of the tips, and are not strongly affected by surface chemistry. Theory predicts greater adhesive forces simply from subdividing setae to increase surface density, and suggests a possible design principle underlying the repeated, convergent evolution of dry adhesive microstructures in gecko, anoles, skinks, and insects. Estimates using a standard adhesion model and our measured forces come remarkably close to predicting the tip size of Tokay gecko seta. We verified the dependence on size and not surface type by using physical models of setal tips nanofabricated from two different materials. Both artificial setal tips stuck as predicted and provide a path to manufacturing the first dry, adhesive microstructures.

[Titanium or steel as osteosynthesis material : Systematic literature search for clinical evidence].

Science.gov (United States)

Joeris, Alexander; Goldhahn, Sabine; Rometsch, Elke; Höntzsch, Dankward

2017-02-01

The selection of the appropriate implant material, stainless steel or titanium, is still the decision of the surgeon and/or the affiliated institution. Additionally, remarkable international differences can be found between the different markets, which cannot really be explained. A systematic literature search was performed to verify whether there is clinical evidence for the preference of one material over the other. The systematic literature search was performed utilizing the internet databases PubMed, Cochrane and Web of Science. Comparative studies were included that reported on adult patients with osteosynthesis of extremities after trauma using either stainless steel or titanium implants. Information was extracted about infection rates, incidence of clinically relevant allergies, problems with implant removal and other complications. A total of 18 publications were identified to be eligible and 2 referenced articles were added. In summary, there is insufficient clinical evidence that the use of titanium or steel implants has a positive or negative effect on fracture healing, shows different rates of allergies, different rates of infections or mechanical failure. No supporting evidence could be identified for the difficulties with removal of titanium implants reported by surgeons. This systematic literature search did not provide any clinical evidence for material-related differences between titanium or stainless steel implants for fracture fixation. Based on the current clinical evidence both titanium and steel implants can be considered to be of equal value. The reported difficulties with implant removal are not reflected in the published literature.

Effective Suckling C57BL/6, Kunming, and BALB/c Mouse Models with Remarkable Neurological Manifestation for Zika Virus Infection

Science.gov (United States)

Liu, Xuling; Ke, Changwen; Wu, Qinghua; Lu, Weizhi; Qin, Zhiran; He, Xiaoen; Liu, Yujing; Deng, Jieli; Xu, Suiqi; Li, Ying; Zhu, Li; Wan, Chengsong; Xiao, Weiwei; Xie, Qian; Zhang, Bao; Zhao, Wei

2017-01-01

Since 2015, 84 countries and territories reported evidence of vector-borne Zika Virus (ZIKV) transmission. The World Health Organization (WHO) declared that ZIKV and associated consequences especially the neurological autoimmune disorder Guillain–Barré syndrome (GBS) and microcephaly will remain a significant enduring public health challenge requiring intense action. We apply a standardization of the multi-subcutaneous dorsal inoculation method to systematically summarize clinical neurological manifestation, viral distribution, and tissue damage during the progress of viremia and systemic spread in suckling mouse models. We found that C57BL/6 and Kunming mice (KM) both showed remarkable and uniform neurologic manifestations. C57BL/6 owned the highest susceptibility and pathogenicity to the nervous system, referred to as movement disorders, with 100% incidence, while KM was an economic model for a Chinese study characterized by lower limb weakness with 62% morbidity. Slight yellow extraocular exudates were observed in BALB/c, suggesting the association with similar ocular findings to those of clinical cases. The virus distribution and pathological changes in the sera, brains, livers, kidneys, spleens, and testes during disease progression had strong regularity and uniformity, demonstrating the effectiveness and plasticity of the animal models. The successful establishment of these animal models will be conducive to expound the pathogenic mechanism of GBS. PMID:28661429

Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.

Science.gov (United States)

So, Joyce; Müller, Ines; Kunath, Melanie; Herrmann, Susanne; Ullmann, Reinhard; Schweiger, Susann

2008-01-01

Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance ("Greek helmet facies"), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS. (c) 2007 Wiley-Liss, Inc.

Remarkable optical red shift and extremely high optical absorption coefficient of V-Ga co-doped TiO2

Science.gov (United States)

Deng, Quanrong; Han, Xiaoping; Gao, Yun; Shao, Guosheng

2012-07-01

A first attempt has been made to study the effect of codoping of transition metal and sp metal on the electronic structure and associated optical properties of TiO2, through V-Ga codoped thin films. V-Ga codoped rutile TiO2 films were fabricated on fused quartz substrates using pulsed laser ablation, followed by heat treatment at high temperatures. Gigantic redshift in the optical absorption edge was observed in V-Ga co-doped TiO2 materials, from UV to infrared region with high absorption coefficient. Through combined structural characterization and theoretical modeling, this is attributed to the p-d hybridization between the two metals. This leads to additional energy bands to overlap with the minimum of the conduction band, leading to remarkably narrowed band gap free of mid-gap states. The direct-gap of the co-doped phase is key to the remarkably high optical absorption coefficient of the coped titania.

Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus

Energy Technology Data Exchange (ETDEWEB)

Hananian, J; Cleaver, J E

1980-01-01

A patient is described who has a unique combination of symptoms that correspond with two sun-sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematosus (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among US blacks, thus far, although African black cases are known. Her DNA repair levels are 20-30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at present. 25 references, 2 figures.

Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines

International Nuclear Information System (INIS)

Tohda, H.; Oikawa, A.

1983-01-01

Sister-chromatic exchange (SCE) induced by ultraviolet (UV) irradiation and viability after UV irradiation were studied in lymphoblastoid cell lines derived from 7 patients with xeroderma pigmentosum (XP) and 6 normal donors. UV irradiation caused significant increases of SCEs in both XP and normal cells. In 3 XP cell lines, which were deficient in unscheduled DNA synthesis (UDS) and sensitive to the killing effect of UV, very high SCE frequencies were observed after UV irradiation. Cells from a patient with the De Sanctis-Cacchione syndrome were the most sensitive to UV in terms of both SCE induction and cell killing. In 2 of 4 UDS-proficient XP cell lines tested, the incidences of UV-induced SCEs were similar to those in normal cell lines, but in 2 other UDS-proficient lines from 2 XP patients with skin cancer, the frequencies of UV-induced SCEs were significantly higher than in normal cells. (orig./AJ)

Single molecule microscopy and spectroscopy: concluding remarks.

Science.gov (United States)

van Hulst, Niek F

2015-01-01

Chemistry is all about molecules: control, synthesis, interaction and reaction of molecules. All too easily on a blackboard, one draws molecules, their structures and dynamics, to create an insightful picture. The dream is to see these molecules in reality. This is exactly what "Single Molecule Detection" provides: a look at molecules in action at ambient conditions; a breakthrough technology in chemistry, physics and biology. Within the realms of the Royal Society of Chemistry, the Faraday Discussion on "Single Molecule Microscopy and Spectroscopy" was a very appropriate topic for presentation, deliberation and debate. Undoubtedly, the Faraday Discussions have a splendid reputation in stimulating scientific debates along the traditions set by Michael Faraday. Interestingly, back in the 1830's, Faraday himself pursued an experiment that led to the idea that atoms in a compound were joined by an electrical component. He placed two opposite electrodes in a solution of water containing a dissolved compound, and observed that one of the elements of the compound accumulated on one electrode, while the other was deposited on the opposite electrode. Although Faraday was deeply opposed to atomism, he had to recognize that electrical forces were responsible for the joining of atoms. Probably a direct view on the atoms or molecules in his experiment would have convinced him. As such, Michael Faraday might have liked the gathering at Burlington House in September 2015 (). Surely, with the questioning eyes of his bust on the 1st floor corridor, the non-believer Michael Faraday has incited each passer-by to enter into discussion and search for deeper answers at the level of single molecules. In these concluding remarks, highlights of the presented papers and discussions are summarized, complemented by a conclusion on future perspectives.

Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment.

Science.gov (United States)

Fang, Qing; Giordimaina, Alicia M; Dolan, David F; Camper, Sally A; Mustapha, Mirna

2012-04-01

Hypothyroidism is a cause of genetic and environmentally induced deafness. The sensitivity of cochlear development and function to thyroid hormone (TH) mandates understanding TH action in this sensory organ. Prop1(df) and Pou1f1(dw) mutant mice carry mutations in different pituitary transcription factors, each resulting in pituitary thyrotropin deficiency. Despite the same lack of detectable serum TH, these mutants have very different hearing abilities: Prop1(df) mutants are mildly affected, while Pou1f1(dw) mutants are completely deaf. Genetic studies show that this difference is attributable to the genetic backgrounds. Using embryo transfer, we discovered that factors intrinsic to the fetus are the major contributor to this difference, not maternal effects. We analyzed Prop1(df) mutants to identify processes in cochlear development that are disrupted in other hypothyroid animal models but protected in Prop1(df) mutants by the genetic background. The development of outer hair cell (OHC) function is delayed, but Prestin and KCNQ4 immunostaining appear normal in mature Prop1(df) mutants. The endocochlear potential and KCNJ10 immunostaining in the stria vascularis are indistinguishable from wild type, and no differences in neurofilament or synaptophysin staining are evident in Prop1(df) mutants. The synaptic vesicle protein otoferlin normally shifts expression from OHC to IHC as temporary afferent fibers beneath the OHC regress postnatally. Prop1(df) mutants exhibit persistent, abnormal expression of otoferlin in apical OHC, suggesting delayed maturation of synaptic function. Thus, the genetic background of Prop1(df) mutants is remarkably protective for most functions affected in other hypothyroid mice. The Prop1(df) mutant is an attractive model for identifying the genes that protect against deafness.

Remarkable separability of the circulation response to Arctic sea ice loss and greenhouse gas forcing

Science.gov (United States)

McCusker, K. E.; Kushner, P. J.; Fyfe, J. C.; Sigmond, M.; Kharin, V. V.; Bitz, C. M.

2017-12-01

Arctic sea ice loss has an important effect on local climate through increases in ocean to atmosphere heat flux and associated feedbacks, and may influence midlatitude climate by changing large-scale circulation that can enhance or counter changes that are due to greenhouse gases. The extent to which climate change in a warming world can be understood as greenhouse gas-induced changes that are modulated by Arctic sea ice loss depends on how additive the responses to the separate influences are. Here we use a novel sea ice nudging methodology in the Canadian Earth System Model, which has a fully coupled ocean, to isolate the effects of Arctic sea ice loss and doubled atmospheric carbon dioxide (CO2) to determine their additivity and sensitivity to mean state. We find that the separate effects of Arctic sea ice loss and doubled CO2 are remarkably additive and relatively insensitive to mean climate state. This separability is evident in several thermodynamic and dynamic fields throughout most of the year, from hemispheric to synoptic scales. The extent to which the regional response to sea ice loss sometimes agrees with and sometimes cancels the response to CO2 is quantified. In this model, Arctic sea ice loss enhances the CO2-induced surface air temperature changes nearly everywhere and zonal wind changes over the Pacific sector, whereas sea ice loss counters CO2-induced sea level pressure changes nearly everywhere over land and zonal wind changes over the Atlantic sector. This separability of the response to Arctic sea ice loss from the response to CO2 doubling gives credence to the body of work in which Arctic sea ice loss is isolated from the forcing that modified it, and might provide a means to better interpret the diverse array of modeling and observational studies of Arctic change and influence.

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

DNA repair characteristics of a hybrid cell clone between xeroderma pigmentosum and Potorous tridactilis

International Nuclear Information System (INIS)

Ida, Kenji

1986-01-01

A hybrid cell clone PX1 was isolated by fusing UV sensitive XP20S(SV)neo, an SV-40-transformed, neomycin-resistant xeroderma pigmentosum (XP) cell line, and Pt K2, a rat kangaroo (Potorous tridactilis) cell line. The UV-survival curve of PX1 cells fell midway between those of Pt K2 and XP20S(SV)neo cells, since mean lethal doses(D 0 ) were 2.5, 4.7 and 0.27 J/m 2 for PX1, Pt K2 and XP20S(SV)neo, respectively. Amounts of unscheduled DNA synthesis (UDS) after UV, relative to normal human cells, were 60.4 % for Pt K2, 37.7 % for PX1 and 0.1 % for XP20S(SV)neo. Such relative UDS capacities for excision repair of Pt K2, PX1 and XP20S(SV)neo were also consistent with the respective relative capacities of host cell reactivation (HCR) of UV-irradiated Herpes simplex virus. Apparently, there was no single Pt K2 chromosome in the PX1 cells. One possibility is that a gene which may account for the partial restoration of the UV resistance has been transferred from Pt K2 to PX1. (author)

Development of effective skin cancer treatment and prevention in xeroderma pigmentosum.

Science.gov (United States)

Lambert, W Clark; Lambert, Muriel W

2015-01-01

Xeroderma pigmentosum (XP) is a rare, recessively transmitted genetic disease characterized by increasingly marked dyspigmentation and xerosis (dryness) of sun-exposed tissues, especially skin. Skin cancers characteristically develop in sun-exposed sites at very much earlier ages than in the general population; these are often multiple and hundreds or even thousands may develop. Eight complementation groups have been identified. Seven groups, XP-A…G, are associated with defective genes encoding proteins involved in the nucleotide excision DNA repair (NER) pathway that recognizes and excises mutagenic changes induced in DNA by sunlight; the eighth group, XP-V, is associated with defective translesion synthesis (TLS) bypassing such alterations. The dyspigmentation, xerosis and eventually carcinogenesis in XP patients appear to be due to their cells' failure to respond properly to these mutagenic DNA alterations, leading to mutations in skin cells. A subset of cases, especially those in some complementation groups, may develop neurological degeneration, which may be severe. However, in most XP patients, in the past the multiple skin cancers have led to death at an early age due to either metastases or sepsis. Using either topical 5-fluorouracil or imiquimod, we have developed a protocol that effectively prevents most skin cancer development in XP patients. © 2014 The American Society of Photobiology.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Science.gov (United States)

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-08-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.

Introduction to Metagenomics at DOE JGI (Opening Remarks for the Metagenomics Informatics Challenges Workshop: 10K Genomes at a Time)

Energy Technology Data Exchange (ETDEWEB)

Kyrpides, Nikos [DOE JGI

2011-10-12

After a quick introduction by DOE JGI Director Eddy Rubin, DOE JGI's Nikos Kyrpides delivers the opening remarks at the Metagenomics Informatics Challenges Workshop held at the DOE JGI on October 12-13, 2011

REMARKS ON THE CHURCH IN THE CONSUMER SOCIETY ...

African Journals Online (AJOL)

1.1 Product and services are inseparable. In business the concept of the customer is of paramount importance. The customer is so powerful that .... the early history of the church, it has always been evident that the church makes a difference in ...

Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient

International Nuclear Information System (INIS)

Chang, H.R.; Ishizaki, K.; Sasaki, M.S.; Toguchida, J.; Kato, M.; Nakamura, Y.; Kawamura, S.; Moriguchi, T.; Ikenaga, M.

1989-01-01

A female Japanese xeroderma pigmentosum (XP) patient with severe skin lesions and various neurologic abnormalities was assigned to complementation group A by conventional cell fusion studies. Ultraviolet (UV)-irradiated skin fibroblasts showed a biphasic survival curve, as measured by colony-forming ability. The surviving fraction decreased rapidly up to 2 J/m2 of UV, with a steep slope of D(O) (mean lethal dose) = 0.95 J/m2. At much higher doses it decreased more slowly, with D(O) = 3.5 J/m2. To elucidate the cause of this unique survival response, we isolated a large number of independent clones from single colonies and measured their responses to UV. Of 81 clones analyzed, ten showed a marked resistance to killing by UV, which was only slightly more sensitive than normal cells, and these clones had a rate of unscheduled DNA synthesis (UDS) that was about 45% of normal cells. By contrast, the remaining 71 clones were extremely sensitive to UV, typical of XP group A strains, and had a UDS level 1%-3% of normals. Analysis of restriction fragment length polymorphism using seven polymorphic DNA probes indicated that the UV-resistant clones were derived from the same individual as the UV-sensitive clones. These results clearly demonstrate that this patient's fibroblast cells consist of two types with differing responses to UV, and provide direct evidence of somatic mosaicism for DNA repair capacity in an XP patient

A NEW LUMINOSITY RELATION FOR GAMMA-RAY BURSTS AND ITS IMPLICATION

International Nuclear Information System (INIS)

Qi Shi; Lu Tan

2010-01-01

Gamma-ray bursts (GRBs) are the most luminous astrophysical events observed so far. They are conventionally classified into long and short ones depending on their time duration, T 90 . Because of the advantage that their high redshifts offer, many efforts have been made to apply GRBs to cosmology. The key to this is to find correlations between some measurable properties of GRBs and the energy or the luminosity of GRBs. These correlations are usually referred to as luminosity relations and are helpful in understanding the GRBs themselves. In this paper, we explored such correlations in the X-ray emission of GRBs. The X-ray emission of GRBs observed by Swift has the exponential functional form in the prompt phase and relaxes to a power-law decay at time T p . We have assumed a linear relation between log L X,p (with L X,p being the X-ray luminosity at T p ) and log [T p /(1 + z)], but there is some evidence for curvature in the data and the true relationship between L X,p and T p /(1 + z) may be a broken power law. The limited GRB sample used in our analysis is still not sufficient for us to conclude whether the break is real or just an illusion caused by outliers. We considered both cases in our analysis and discussed the implications of the luminosity relation, especially on the time duration of GRBs and their classification.

An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.

Science.gov (United States)

Takahashi, Y; Endo, Y; Kusaka-Kikushima, A; Nakamaura, S; Nakazawa, Y; Ogi, T; Uryu, M; Tsuji, G; Furue, M; Moriwaki, S

2017-07-01

A certain relationship between XPA gene mutations and the severity of symptoms has been observed in patients with xeroderma pigmentosum group A (XP-A). Patients with mutations within the DNA-binding domain usually exhibit severe symptoms, whereas splicing mutations in the same domain sometimes cause very mild symptoms. This inconsistency can be explained by a small amount of functional XPA protein produced from normally spliced transcripts. We herein report the case of an adult Japanese patient with XP-A with unusually mild symptoms. We identified a homozygous c.529G>A mutation in exon 4 of the XPA gene, which resulted in aberrant splicing with a 29-bp deletion in exon 4 causing a frameshift. Intact mRNA was observable, but a Western blot analysis failed to detect any normal XPA protein. We therefore evaluated the DNA repair capacity in normal cells in which the XPA expression was artificially diminished. The repair capacity was still present in cells with trace levels of the XPA protein. The repair capacity of the cells derived from our patient with mild symptoms was poor by comparison, but still significant compared with that of the cells derived from a patient with XP-A with severe symptoms. These results provide strong evidence that a trace level of XPA protein can still exert a relatively strong repair capacity, resulting in only a mild phenotype. © 2016 British Association of Dermatologists.

Integrity assessment of pipelines - additional remarks; Avaliacao da integridade de dutos - observacoes adicionais

Energy Technology Data Exchange (ETDEWEB)

Alves, Luis F.C. [PETROBRAS S.A., Salvador, BA (Brazil). Unidade de Negocios. Exploracao e Producao

2005-07-01

Integrity assessment of pipelines is part of a process that aims to enhance the operating safety of pipelines. During this task, questions related to the interpretation of inspection reports and the way of regarding the impact of several parameters on the pipeline integrity normally come up. In order to satisfactorily answer such questions, the integrity assessment team must be able to suitably approach different subjects such as corrosion control and monitoring, assessment of metal loss and geometric anomalies, and third party activities. This paper presents additional remarks on some of these questions based on the integrity assessment of almost fifty pipelines that has been done at PETROBRAS/E and P Bahia over the past eight years. (author)

REMARKS ON NEUROCONTROL OF THE HAND AND SIGNIFICANCE OF AFFERENT INPUT

Directory of Open Access Journals (Sweden)

Nejc Sarabon

2004-12-01

Full Text Available This paper outlines some remarks on our understanding of motor control of the hand. It begins with current knowledge about motor behavior of prehension movements. It further highlights the distributed nature of the control system that integrates sensory information from the periphery, existing motor memory from subcortical centers, and information from diverse primary and secondary motor as well as sensory areas. It further explains the sequential nature of the processes like decision, planning, computing, and execution involved in neurocontrol of a purposeful hand motor task. In the successive part it stresses the importance of sensory input, in particular proprioceptive, for movement setting and guidance. It concludes by pointing out research concepts used to study roles of sensory information for modulating states of neurobiological systems. Finally, a novel method of whole hand electrical stimulation, which seems promising as a tool for studying sensory-motor integration mechanisms in human’s hand, is explained and recent experimental data are provided.

Forensic analysis of explosives using isotope ratio mass spectrometry (IRMS)--part 1: instrument validation of the DELTAplusXP IRMS for bulk nitrogen isotope ratio measurements.

Science.gov (United States)

Benson, Sarah J; Lennard, Christopher J; Hill, David M; Maynard, Philip; Roux, Claude

2010-01-01

A significant amount of research has been conducted into the use of stable isotopes to assist in determining the origin of various materials. The research conducted in the forensic field shows the potential of isotope ratio mass spectrometry (IRMS) to provide a level of discrimination not achievable utilizing traditional forensic techniques. Despite the research there have been few, if any, publications addressing the validation and measurement uncertainty of the technique for forensic applications. This study, the first in a planned series, presents validation data for the measurement of bulk nitrogen isotope ratios in ammonium nitrate (AN) using the DELTA(plus)XP (Thermo Finnigan) IRMS instrument equipped with a ConFlo III interface and FlashEA 1112 elemental analyzer (EA). Appropriate laboratory standards, analytical methods and correction calculations were developed and evaluated. A validation protocol was developed in line with the guidelines provided by the National Association of Testing Authorities, Australia (NATA). Performance characteristics including: accuracy, precision/repeatability, reproducibility/ruggedness, robustness, linear range, and measurement uncertainty were evaluated for the measurement of nitrogen isotope ratios in AN. AN (99.5%) and ammonium thiocyanate (99.99+%) were determined to be the most suitable laboratory standards and were calibrated against international standards (certified reference materials). All performance characteristics were within an acceptable range when potential uncertainties, including the manufacturer's uncertainty of the technique and standards, were taken into account. The experiments described in this article could be used as a model for validation of other instruments for similar purposes. Later studies in this series will address the more general issue of demonstrating that the IRMS technique is scientifically sound and fit-for-purpose in the forensic explosives analysis field.

Dicty_cDB: VSJ387 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available ygskrlxirrrcflfky*fpnrlsi*txkd*fcyqslpsky*xqrkxlfryfkgtmex slnysksftfn*xpfi*pksr*ssxtrycxfi*nrqk*iri*xp*vdkkxxxii...fn*xpfi*pksr*ssxtrycxfi*nrqk*iri*xp*vdkkxxxiifhe*ir qpkkkkfflvnd*tfkinnr Frame B: tfyiyyyklyisqksnslnkygfken

Reduced superoxide dismutase activity in xeroderma pigmentosum fibroblasts

International Nuclear Information System (INIS)

Nishigori, C.; Miyachi, Y.; Imamura, S.; Takebe, H.

1989-01-01

This study was performed in order to assess the possible protective effect of superoxide dismutase (SOD) on ultraviolet (UV) damage in xeroderma pigmentosum (XP) fibroblasts. SOD activity in fibroblasts originating from seven xeroderma pigmentosum (XP) patients was significantly lower than that in normal cells (p less than 0.005). Average SOD activity in XP cells belonging to complementation group A was 3.68 +/- 0.54 (n = 7) and that in normal human cells was 5.79 +/- 1.59 (n = 6). Addition of SOD before and during UV irradiation (UVB and UVC) to the cells caused no change in the amount of unscheduled DNA synthesis and UV survival. A possible involvement of reduced SOD in XP and a possible protective effect by SOD on UV damage is discussed

Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage

Science.gov (United States)

Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G.; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T.; Bradford, Porcia; DiGiovanna, John J.; Kraemer, Kenneth H

2013-01-01

Objective Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes, and ocular surfaces. This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health. Design Retrospective Observational Case Series Participants Eighty-seven participants, aged 1.3 to 63.4 years, referred to the National Eye Institute for examination from 1964 to 2011. Eighty-three had XP, 3 had XP/Cockayne Syndrome complex, and 1 had XP/trichothiodystrophy complex. Methods Complete, age- and developmental stage-appropriate ophthalmic examination. Main Outcome Measures Visual acuity; eyelid, ocular surface and lens pathology; tear film and tear production measures; and cytological analysis of conjunctival surface swabs. Results Of the 87 patients, 91% had at least one ocular abnormality. The most common abnormalities were conjunctivitis (51%), corneal neovascularization (44%), dry eye (38%), corneal scarring (26%), ectropion (25%), blepharitis (23%), conjunctival melanosis (20%), and cataracts (14%). Thirteen percent of patients had some degree of visual axis impingement and 5% had no light perception in one or both eyes. Ocular surface cancer or a history of ocular surface cancer was present in 10% of patients. Patients with an acute sunburning skin phenotype were less likely to develop conjunctival melanosis and ectropion but more likely to develop neoplastic ocular surface lesions than non-burning patients. Some patients also showed signs of limbal stem cell deficiency. Conclusions Our longitudinal study reports the ocular status of the largest group of XP patients systematically examined at one facility over an extended period of time. Structural eyelid abnormalities, neoplasms of

Radiometric age determination on some granitic rocks in the Hida Range, central Japan. Remarkable age difference across a fault

International Nuclear Information System (INIS)

Ito, Hisatoshi; Tanaka, Kazuhiro

1999-01-01

K-Ar and zircon fission-track dating was carried out on some granitic rocks in the Hida Range, central Japan. The samples analyzed were collected on both sides of one of the major faults in the Hida Range: the Kurobe-Takase fracture zone. Ages obtained west of the fault are ∼60 Ma, while those obtained to the east of the fault are less than ∼5 Ma. These results indicate a remarkable age difference across the fault. The Okukurobe granite, located west of the fault, cooled rapidly from ∼600degC to ∼240degC between 60-55 Ma, and the Kanazawa granodiorite, located east of the fault, cooled rapidly from ∼600degC to ∼240degC between 5-1 Ma. The Okukurobe granite has remained cooler than ∼240degC since ∼55 Ma. Thus, it was found that the granitic rocks across the fault have experienced a remarkable different cooling history. (author)

Spin alignment of leading $K^{*}(892)^{0}$ mesons in hadronic $Z^0$ decays

CERN Document Server

Ackerstaff, K.; Allison, John; Altekamp, N.; Anderson, K.J.; Anderson, S.; Arcelli, S.; Asai, S.; Axen, D.; Azuelos, G.; Ball, A.H.; Barberio, E.; Barlow, Roger J.; Bartoldus, R.; Barillari, T.; Batley, J.R.; Baumann, S.; Bechtluft, J.; Beeston, C.; Behnke, T.; Bell, A.N.; Bell, Kenneth Watson; Bella, G.; Bentvelsen, S.; Bethke, S.; Biebel, O.; Biguzzi, A.; Bird, S.D.; Blobel, V.; Bloodworth, I.J.; Bloomer, J.E.; Bobinski, M.; Bock, P.; Bonacorsi, D.; Boutemeur, M.; Bouwens, B.T.; Braibant, S.; Brigliadori, L.; Brown, Robert M.; Burckhart, H.J.; Burgard, C.; Burgin, R.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, David G.; Chrisman, D.; Clarke, P.E.L.; Cohen, I.; Conboy, J.E.; Cooke, O.C.; Cuffiani, M.; Dado, S.; Dallapiccola, C.; Dallavalle, G.Marco; Davies, R.; De Jong, S.; del Pozo, L.A.; Desch, K.; Dienes, B.; Dixit, M.S.; do Couto e Silva, E.; Doucet, M.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Eatough, D.; Edwards, J.E.G.; Estabrooks, P.G.; Evans, H.G.; Evans, M.; Fabbri, F.; Fanti, M.; Faust, A.A.; Fiedler, F.; Fierro, M.; Fischer, H.M.; Fleck, I.; Folman, R.; Fong, D.G.; Foucher, M.; Furtjes, A.; Futyan, D.I.; Gagnon, P.; Gary, J.W.; Gascon, J.; Gascon-Shotkin, S.M.; Geddes, N.I.; Geich-Gimbel, C.; Geralis, T.; Giacomelli, G.; Giacomelli, P.; Giacomelli, R.; Gibson, V.; Gibson, W.R.; Gingrich, D.M.; Glenzinski, D.; Goldberg, J.; Goodrick, M.J.; Gorn, W.; Grandi, C.; Gross, E.; Grunhaus, J.; Gruwe, M.; Hajdu, C.; Hanson, G.G.; Hansroul, M.; Hapke, M.; Hargrove, C.K.; Hart, P.A.; Hartmann, C.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Hemingway, R.J.; Herndon, M.; Herten, G.; Heuer, R.D.; Hildreth, M.D.; Hill, J.C.; Hillier, S.J.; Hobson, P.R.; Homer, R.J.; Honma, A.K.; Horvath, D.; Hossain, K.R.; Howard, R.; Huntemeyer, P.; Hutchcroft, D.E.; Igo-Kemenes, P.; Imrie, D.C.; Ingram, M.R.; Ishii, K.; Jawahery, A.; Jeffreys, P.W.; Jeremie, H.; Jimack, M.; Joly, A.; Jones, C.R.; Jones, G.; Jones, M.; Jost, U.; Jovanovic, P.; Junk, T.R.; Karlen, D.; Kartvelishvili, V.; Kawagoe, K.; Kawamoto, T.; Kayal, P.I.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kirk, J.; Klier, A.; Kluth, S.; Kobayashi, T.; Kobel, M.; Koetke, D.S.; Kokott, T.P.; Kolrep, M.; Komamiya, S.; Kress, T.; Krieger, P.; von Krogh, J.; Kyberd, P.; Lafferty, G.D.; Lahmann, R.; Lai, W.P.; Lanske, D.; Lauber, J.; Lautenschlager, S.R.; Layter, J.G.; Lazic, D.; Lee, A.M.; Lefebvre, E.; Lellouch, D.; Letts, J.; Levinson, L.; Lloyd, S.L.; Loebinger, F.K.; Long, G.D.; Losty, M.J.; Ludwig, J.; Macchiolo, A.; Macpherson, A.; Mannelli, M.; Marcellini, S.; Markus, C.; Martin, A.J.; Martin, J.P.; Martinez, G.; Mashimo, T.; Mattig, Peter; McDonald, W.John; McKenna, J.; Mckigney, E.A.; McMahon, T.J.; McPherson, R.A.; Meijers, F.; Menke, S.; Merritt, F.S.; Mes, H.; Meyer, J.; Michelini, A.; Mikenberg, G.; Miller, D.J.; Mincer, A.; Mir, R.; Mohr, W.; Montanari, A.; Mori, T.; Morii, M.; Muller, U.; Mihara, S.; Nagai, K.; Nakamura, I.; Neal, H.A.; Nellen, B.; Nisius, R.; O'Neale, S.W.; Oakham, F.G.; Odorici, F.; Ogren, H.O.; Oh, A.; Oldershaw, N.J.; Oreglia, M.J.; Orito, S.; Palinkas, J.; Pasztor, G.; Pater, J.R.; Patrick, G.N.; Patt, J.; Pearce, M.J.; Perez-Ochoa, R.; Petzold, S.; Pfeifenschneider, P.; Pilcher, J.E.; Pinfold, J.; Plane, David E.; Poffenberger, P.; Poli, B.; Posthaus, A.; Rees, D.L.; Rigby, D.; Robertson, S.; Robins, S.A.; Rodning, N.; Roney, J.M.; Rooke, A.; Ros, E.; Rossi, A.M.; Routenburg, P.; Rozen, Y.; Runge, K.; Runolfsson, O.; Ruppel, U.; Rust, D.R.; Rylko, R.; Sachs, K.; Saeki, T.; Sarkisian, E.K.G.; Sbarra, C.; Schaile, A.D.; Schaile, O.; Scharf, F.; Scharff-Hansen, P.; Schenk, P.; Schieck, J.; Schleper, P.; Schmitt, B.; Schmitt, S.; Schoning, A.; Schroder, Matthias; Schultz-Coulon, H.C.; Schumacher, M.; Schwick, C.; Scott, W.G.; Shears, T.G.; Shen, B.C.; Shepherd-Themistocleous, C.H.; Sherwood, P.; Siroli, G.P.; Sittler, A.; Skillman, A.; Skuja, A.; Smith, A.M.; Snow, G.A.; Sobie, R.; Soldner-Rembold, S.; Springer, Robert Wayne; Sproston, M.; Stephens, K.; Steuerer, J.; Stockhausen, B.; Stoll, K.; Strom, David M.; Szymanski, P.; Tafirout, R.; Talbot, S.D.; Tanaka, S.; Taras, P.; Tarem, S.; Teuscher, R.; Thiergen, M.; Thomson, M.A.; von Torne, E.; Towers, S.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turcot, A.S.; Turner-Watson, M.F.; Utzat, P.; Van Kooten, Rick J.; Verzocchi, M.; Vikas, P.; Vokurka, E.H.; Voss, H.; Wackerle, F.; Wagner, A.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wermes, N.; White, J.S.; Wilkens, B.; Wilson, G.W.; Wilson, J.A.; Wolf, G.; Wyatt, T.R.; Yamashita, S.; Yekutieli, G.; Zacek, V.; Zer-Zion, D.

1997-01-01

Helicity density matrix elements for inclusive K*(892)^0 mesons from hadronic Z^0 decays have been measured over the full range of K^*0 momentum using data taken with the OPAL experiment at LEP. A preference for occupation of the helicity zero state is observed at all scaled momentum x_p values above 0.3, with the matrix element rho_00 rising to 0.66 +/- 0.11 for x_p > 0.7. The values of the real part of the off-diagonal element rho_1-1 are negative at large x_p, with a weighted average value of -0.09 +/- 0.03 for x_p > 0.3, in agreement with new theoretical predictions based on Standard Model parameters and coherent fragmentation of the qq(bar) system from the Z^0 decay. All other helicity density matrix elements measured are consistent with zero over the entire x_p range. The K^*0 fragmentation function has also been measured and the total rate determined to be 0.74 +/- 0.02 +/- 0.02 K*(892)^0 mesons per hadronic Z^0 decay.

Xeroderma Pigmentosum: defective DNA repair causes skin cancer and neurodegeneration

International Nuclear Information System (INIS)

Robbins, J.H.

1988-01-01

Xeroderma pigmentosum is a rare autosomal recessive disease with numerous malignancies on sun-exposed areas of the skin and eye because of an inability to repair DNA damage inflicted by harmful ultraviolet (UV) radiation of the sun. Because it is the only disease in which cancer is known to result from defective DNA repair, XP has received intense clinical and biochemical study during the last two decades. Furthermore, some patients with XP develop a primary neuronal degeneration, probably due to the inability of nerve cells to repair damage to their DNA caused by intraneuronal metabolites and physicochemical events that mimic the effects of UV radiation. Studies of XP neurodegeneration and DNA-repair defects have led to the conclusion that efficient DNA repair is required to prevent premature death of human nerve cells. Since XP neurodegeneration has similarities to premature death of nerve cells that occurs in such neurodegenerative disorders, XP may be the prototype for these more common neurodegenerations. Recent studies indicate that these degenerations also may have DNA-repair defects

Directional selection in temporally replicated studies is remarkably consistent.

Science.gov (United States)

Morrissey, Michael B; Hadfield, Jarrod D

2012-02-01

Temporal variation in selection is a fundamental determinant of evolutionary outcomes. A recent paper presented a synthetic analysis of temporal variation in selection in natural populations. The authors concluded that there is substantial variation in the strength and direction of selection over time, but acknowledged that sampling error would result in estimates of selection that were more variable than the true values. We reanalyze their dataset using techniques that account for the necessary effect of sampling error to inflate apparent levels of variation and show that directional selection is remarkably constant over time, both in magnitude and direction. Thus we cannot claim that the available data support the existence of substantial temporal heterogeneity in selection. Nonetheless, we conject that temporal variation in selection could be important, but that there are good reasons why it may not appear in the available data. These new analyses highlight the importance of applying techniques that estimate parameters of the distribution of selection, rather than parameters of the distribution of estimated selection (which will reflect both sampling error and "real" variation in selection); indeed, despite availability of methods for the former, focus on the latter has been common in synthetic reviews of the aspects of selection in nature, and can lead to serious misinterpretations. © 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution.

NCBI nr-aa BLAST: CBRC-FRUB-02-0466 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-FRUB-02-0466 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 0.0 68% ...

NCBI nr-aa BLAST: CBRC-CELE-06-0097 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CELE-06-0097 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 0.0 37% ...

NCBI nr-aa BLAST: CBRC-EEUR-01-1367 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-EEUR-01-1367 ref|XP_001566741.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM40257.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001566741.1 1.0 26% ...

NCBI nr-aa BLAST: CBRC-HSAP-11-0322 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-11-0322 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 0.001 26% ...

NCBI nr-aa BLAST: CBRC-ETEL-01-1255 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ETEL-01-1255 ref|XP_001564187.1| protein kinase, putative [Leishmania brazilie...nsis] emb|CAM38243.1| protein kinase, putative [Leishmania braziliensis] XP_001564187.1 0.075 25% ...

NCBI nr-aa BLAST: CBRC-TGUT-31-0003 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TGUT-31-0003 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 0.0 24% ...

NCBI nr-aa BLAST: CBRC-DNOV-01-0258 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DNOV-01-0258 ref|XP_001568170.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43274.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568170.1 2.3 27% ...

NCBI nr-aa BLAST: CBRC-OSAT-06-0016 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OSAT-06-0016 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 0.001 20% ...

NCBI nr-aa BLAST: CBRC-CBRE-01-0659 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CBRE-01-0659 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 0.0 35% ...

NCBI nr-aa BLAST: CBRC-HSAP-07-0063 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-07-0063 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 0.0 26% ...

NCBI nr-aa BLAST: CBRC-HSAP-11-0322 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-11-0322 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 0.003 25% ...

Senior expert group for the review of the Agency's programme of activities. Opening remarks by the Director General

International Nuclear Information System (INIS)

ElBaradei, M.

1998-01-01

The document reproduces the opening remarks made by the Director General of the IAEA on 23 March 1998 at the first meeting of the Senior Expert Group for the review of the Agency's programme and activities. The Director General explains his considerations in establishing the group, and the major challenges facing the safe use of nuclear energy and technologies

Clinical characteristics of three patients with UV{sup s} syndrome, a photosensitive disorder with defective DNA repair

Energy Technology Data Exchange (ETDEWEB)

Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T. [Kumamoto Univ. (Japan). School of Medicine; Ichihashi, M. [Kobe Univ. (Japan). School of Medicine

1996-06-01

Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients` fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author).

Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair

International Nuclear Information System (INIS)

Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T.; Ichihashi, M.

1996-01-01

Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author)

Generation of Xeroderma Pigmentosum-A Patient-Derived Induced Pluripotent Stem Cell Line for Use As Future Disease Model.

Science.gov (United States)

Ohnishi, Hiroe; Kawasaki, Takashi; Deguchi, Tomonori; Yuba, Shunsuke

2015-08-01

Xeroderma pigmentosum group A (XP-A) is a genetic disorder in which there is an abnormality in nucleotide excision repair that causes hypersensitivity to sunlight and multiple skin cancers. The development of central and peripheral neurological disorders not correlated to ultraviolet light exposure is associated with XP-A. The genes responsible for XP-A have been identified and a XPA knockout mouse has been generated. These knockout mice exhibit cutaneous symptoms, but they do not show neurological disorders. The mechanism of pathogenesis of neurological disorders is still unclear and therapeutic methods have not been established. Therefore, we generated XP-A patient-derived human induced pluripotent stem cells (XPA-iPSCs) to produce in vitro models of neurological disorders. We obtained iPSC lines from fibroblasts of two patients carrying different mutations. Drugs screened using XPA-iPSC lines can be helpful for treating XP-A patients in Japan. Additionally, we revealed that these iPSCs have the potential to differentiate into neural lineage cells, including dopaminergic neurons, which decrease in XP-A patients. Our results indicate that expression of the normal XPA gene without mutations is not required for generation of iPSCs and differentiation of iPSCs into neural lineage cells. XPA-iPSCs may become useful models that clarify our understanding of neurological pathogenesis and help to establish therapeutic methods.

The Role of Altered Nucleotide Excision Repair and UVB-Induced DNA Damage in Melanomagenesis

Directory of Open Access Journals (Sweden)

Timothy Budden

2013-01-01

Full Text Available UVB radiation is the most mutagenic component of the UV spectrum that reaches the earth’s surface and causes the development of DNA damage in the form of cyclobutane pyrimidine dimers and 6-4 photoproducts. UV radiation usually results in cellular death, but if left unchecked, it can affect DNA integrity, cell and tissue homeostasis and cause mutations in oncogenes and tumour-suppressor genes. These mutations, if unrepaired, can lead to abnormal cell growth, increasing the risk of cancer development. Epidemiological data strongly associates UV exposure as a major factor in melanoma development, but the exact biological mechanisms involved in this process are yet to be fully elucidated. The nucleotide excision repair (NER pathway is responsible for the repair of UV-induced lesions. Patients with the genetic disorder Xeroderma Pigmentosum have a mutation in one of eight NER genes associated with the XP complementation groups XP-A to XP-G and XP variant (XP-V. XP is characterized by diminished repair capacity, as well as a 1000-fold increase in the incidence of skin cancers, including melanoma. This has suggested a significant role for NER in melanoma development as a result of UVB exposure. This review discusses the current research surrounding UVB radiation and NER capacity and how further investigation of NER could elucidate the role of NER in avoiding UV-induced cellular death resulting in melanomagenesis.

Gclust Server: 40687 [Gclust Server

Lifescience Database Archive (English)

Full Text Available 40687 HSA_51460703 Cluster Sequences Related Sequences(259) 278 XP_292889.3 PREDICTED: similar to notochord...s(259) Sequence length 278 Representative annotation XP_292889.3 PREDICTED: similar to notochord

NCBI nr-aa BLAST: CBRC-AGAM-02-0187 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-02-0187 ref|XP_001648623.1| dopamine receptor, invertebrate [Aedes aegypt...i] gb|EAT33346.1| dopamine receptor, invertebrate [Aedes aegypti] XP_001648623.1 1e-112 63% ...

NCBI nr-aa BLAST: CBRC-DDIS-05-0136 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DDIS-05-0136 ref|XP_001569189.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM44328.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001569189.1 1e-26 29% ...

NCBI nr-aa BLAST: CBRC-MMUS-07-0248 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MMUS-07-0248 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 2e-10 36% ...

NCBI nr-aa BLAST: CBRC-DRER-08-0053 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-08-0053 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 6e-57 33% ...

NCBI nr-aa BLAST: CBRC-HSAP-01-0041 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-01-0041 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 1e-60 42% ...

NCBI nr-aa BLAST: CBRC-DRER-23-0073 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-23-0073 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 2e-33 37% ...

NCBI nr-aa BLAST: CBRC-BTAU-01-2711 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-BTAU-01-2711 ref|XP_001568632.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43752.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568632.1 6e-17 29% ...

NCBI nr-aa BLAST: CBRC-HSAP-14-0042 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-14-0042 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 2e-49 31% ...

NCBI nr-aa BLAST: CBRC-GACU-13-0036 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-13-0036 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 1e-44 20% ...

NCBI nr-aa BLAST: CBRC-GACU-12-0031 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-12-0031 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 2e-19 23% ...

NCBI nr-aa BLAST: CBRC-PABE-20-0089 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-20-0089 ref|XP_001568148.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43250.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568148.1 4e-08 29% ...

NCBI nr-aa BLAST: CBRC-PABE-05-0028 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-05-0028 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 6e-36 34% ...

NCBI nr-aa BLAST: CBRC-RNOR-01-0087 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RNOR-01-0087 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 2e-28 24% ...

NCBI nr-aa BLAST: CBRC-MMUS-01-0068 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MMUS-01-0068 ref|XP_001568148.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43250.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568148.1 4e-14 29% ...

NCBI nr-aa BLAST: CBRC-PTRO-07-0057 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PTRO-07-0057 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 8e-47 30% ...

NCBI nr-aa BLAST: CBRC-OANA-01-1387 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OANA-01-1387 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 2e-06 32% ...

NCBI nr-aa BLAST: CBRC-PMAR-01-0021 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PMAR-01-0021 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 4e-32 28% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-0977 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-0977 ref|XP_001568632.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43752.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568632.1 1e-11 28% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-2168 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-2168 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 3e-19 32% ...

NCBI nr-aa BLAST: CBRC-EEUR-01-1570 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-EEUR-01-1570 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 3e-22 36% ...

NCBI nr-aa BLAST: CBRC-DMEL-08-0086 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DMEL-08-0086 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 3e-30 35% ...

NCBI nr-aa BLAST: CBRC-TNIG-22-0024 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TNIG-22-0024 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 4e-08 23% ...

NCBI nr-aa BLAST: CBRC-DRER-17-0013 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-17-0013 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 6e-43 41% ...

NCBI nr-aa BLAST: CBRC-AGAM-03-0032 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-03-0032 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 3e-42 29% ...

NCBI nr-aa BLAST: CBRC-GACU-18-0030 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-18-0030 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 3e-26 20% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-3332 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-3332 ref|XP_001568148.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43250.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568148.1 1e-32 27% ...

NCBI nr-aa BLAST: CBRC-GGAL-09-0008 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GGAL-09-0008 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 5e-61 23% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-0148 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-0148 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 5e-61 21% ...

NCBI nr-aa BLAST: CBRC-DRER-17-0070 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-17-0070 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 7e-42 36% ...

NCBI nr-aa BLAST: CBRC-OLAT-05-0036 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OLAT-05-0036 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 2e-30 36% ...

NCBI nr-aa BLAST: CBRC-LAFR-01-0295 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-LAFR-01-0295 ref|XP_001563453.1| proteophosphoglycan ppg1 [Leishmania brazilie...nsis] emb|CAM37639.1| proteophosphoglycan ppg1 [Leishmania braziliensis] XP_001563453.1 4e-05 25% ...

NCBI nr-aa BLAST: CBRC-CELE-05-0449 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CELE-05-0449 ref|XP_001568148.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43250.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568148.1 3e-25 48% ...

NCBI nr-aa BLAST: CBRC-MMUS-19-0091 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MMUS-19-0091 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 1e-53 32% ...

NCBI nr-aa BLAST: CBRC-HSAP-13-0000 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-13-0000 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 1e-44 30% ...

NCBI nr-aa BLAST: CBRC-PTRO-10-0023 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PTRO-10-0023 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 8e-42 26% ...

NCBI nr-aa BLAST: CBRC-RNOR-17-0029 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RNOR-17-0029 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 5e-57 37% ...

NCBI nr-aa BLAST: CBRC-DRER-26-0234 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DRER-26-0234 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 2e-25 25% ...

NCBI nr-aa BLAST: CBRC-AGAM-04-0078 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-04-0078 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 1e-173 31% ...

NCBI nr-aa BLAST: CBRC-GACU-18-0037 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-18-0037 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 3e-79 39% ...

NCBI nr-aa BLAST: CBRC-PMAR-01-0115 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PMAR-01-0115 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 1e-124 55% ...

NCBI nr-aa BLAST: CBRC-TGUT-37-0021 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TGUT-37-0021 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 2e-30 39% ...

NCBI nr-aa BLAST: CBRC-PABE-08-0005 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-08-0005 ref|XP_001568632.1| hypothetical protein, conserved [Leishmania brazil...iensis] emb|CAM43752.1| hypothetical protein, conserved [Leishmania braziliensis] XP_001568632.1 1e-09 30% ...

NCBI nr-aa BLAST: CBRC-HSAP-15-0025 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-15-0025 ref|XP_001563383.1| hypothetical repeat protein [Leishmania brazil...iensis] emb|CAM37564.1| hypothetical repeat protein [Leishmania braziliensis] XP_001563383.1 3e-41 34% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-2168 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-2168 ref|XP_001568166.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43270.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568166.1 1e-18 32% ...

NCBI nr-aa BLAST: CBRC-TNIG-22-0324 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TNIG-22-0324 ref|XP_001568167.1| proteophosphoglycan ppg4 [Leishmania brazilie...nsis] emb|CAM43271.1| proteophosphoglycan ppg4 [Leishmania braziliensis] XP_001568167.1 1e-04 22% ...

76 FR 15988 - National Institute of Mental Health; Notice of Meeting

Science.gov (United States)

2011-03-22

... name and, when applicable, the business or professional affiliation of the interested person. All... later; (B) Windows[supreg] 2000, XP Home, XP Pro, 2003 Server or Vista; (C) Stable 56k, cable modem...

CANCER AND NEUROLOGIC DEGENERATION IN XERODERMA PIGMENTOSUM: LONG TERM FOLLOW-UP CHARACTERIZES THE ROLE OF DNA REPAIR

Science.gov (United States)

Bradford, Porcia T.; Goldstein, Alisa M.; Tamura, Deborah; Khan, Sikandar G.; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Pike, Kristen M.; Raziuddin, Arati; Plona, Teri M.; DiGiovanna, John J.; Tucker, Margaret A.; Kraemer, Kenneth H.

2011-01-01

Background We determined the frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair in a four decade natural history study. Methods All 106 XP patients admitted to the NIH from 1971 to 2009 were evaluated from clinical records and follow-up. Results In the 65 percent (n=69) of patients with skin cancer, non-melanoma skin cancer (NMSC) was increased 10,000–fold and melanoma was increased 2,000-fold in patients under age 20. The 9 year median age at diagnosis of first non-melanoma skin cancer (NMSC) (n=64) was significantly younger than the 22 year median age at diagnosis of first melanoma (n= 38), a relative age reversal from the general population suggesting different mechanisms of carcinogenesis between NMSC and melanoma. XP patients with marked burning on minimal sun exposure (n=65) were less likely to develop skin cancer than those who did not. This may be related to the extreme sun protection they receive from an earlier age, decreasing their total UV exposure. Progressive neurologic degeneration was present in 24% (n=25) with 16/25 in complementation group XP-D. The most common causes of death were skin cancer (34%, n=10), neurologic degeneration (31%, n=9), and internal cancer (17%, n=5). The median age at death (29 years) in XP patients with neurodegeneration was significantly younger than those XP patients without neurodegeneration (37 years) (p=0.02). Conclusion This 39 year follow-up study of XP patients indicates a major role of DNA repair genes in the etiology of skin cancer and neurologic degeneration. PMID:21097776

Pelvimetry using magnetic resonance imaging. Comparison with X-ray pelvimetry

Energy Technology Data Exchange (ETDEWEB)

Kinugasa, Masato; Suzuki, Hiromi; Miyazaki, Yoshihiko [Amagasaki Cooperative Hospital, Hyogo (Japan)

2000-03-01

To evaluate the diagnostic value of magnetic resonance pelvimetry (MRP) in pregnant women at term in comparison with X-ray pelvimetry (X-P). The basic experiment revealed the accuracy of MRP to be satisfactory. Then MRP was performed in thirty-two pregnant women at term (27 with breech presentation and 5 with cephalic presentation) and five non-pregnant patients. Twenty-seven of the pregnant women and all of the non-pregnant patients had X-P simultaneously. Measured MRP and X-P pelvic diameters were compared. Measured diameters of the pelvic inlet (auteroposterior and transverse) were nearly the same with MRP and X-P. But the outlet antero-posterior diameters measured by MRP were smaller than those measured by X-P in twenty-five of twenty-seven women, by an average of 1.0 cm (p<0.001). This gap may result from the difference in posture during examination by means of MRP (supine) and X-P (standing, for lateral image). MRP may represent the actual state of pelvic outlet of women during labor on delivery tables or beds. Vaginal delivery was planned for 22 women with breech presentation who were considered to have an adequate pelvis. Eighteen (82%) of them had successful vaginal delivery and the four other patients had a cesarean section (C/S) due to arrest of labor. Three of four women with cephalic presentation who were suspected by MRP to have a contracted pelvis underwent C/S due to cephalopelvic disproportion. MRP may be a promising alternative to conventional X-P, because it can provide accurate measurements without the hazard of ionizing radiation. (author)

Pelvimetry using magnetic resonance imaging. Comparison with X-ray pelvimetry

International Nuclear Information System (INIS)

Kinugasa, Masato; Suzuki, Hiromi; Miyazaki, Yoshihiko

2000-01-01

To evaluate the diagnostic value of magnetic resonance pelvimetry (MRP) in pregnant women at term in comparison with X-ray pelvimetry (X-P). The basic experiment revealed the accuracy of MRP to be satisfactory. Then MRP was performed in thirty-two pregnant women at term (27 with breech presentation and 5 with cephalic presentation) and five non-pregnant patients. Twenty-seven of the pregnant women and all of the non-pregnant patients had X-P simultaneously. Measured MRP and X-P pelvic diameters were compared. Measured diameters of the pelvic inlet (auteroposterior and transverse) were nearly the same with MRP and X-P. But the outlet antero-posterior diameters measured by MRP were smaller than those measured by X-P in twenty-five of twenty-seven women, by an average of 1.0 cm (p<0.001). This gap may result from the difference in posture during examination by means of MRP (supine) and X-P (standing, for lateral image). MRP may represent the actual state of pelvic outlet of women during labor on delivery tables or beds. Vaginal delivery was planned for 22 women with breech presentation who were considered to have an adequate pelvis. Eighteen (82%) of them had successful vaginal delivery and the four other patients had a cesarean section (C/S) due to arrest of labor. Three of four women with cephalic presentation who were suspected by MRP to have a contracted pelvis underwent C/S due to cephalopelvic disproportion. MRP may be a promising alternative to conventional X-P, because it can provide accurate measurements without the hazard of ionizing radiation. (author)

An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients

International Nuclear Information System (INIS)

Parlanti, Eleonora; Pietraforte, Donatella; Iorio, Egidio; Visentin, Sergio; De Nuccio, Chiara; Zijno, Andrea; D’Errico, Mariarosaria; Simonelli, Valeria; Sanchez, Massimo; Fattibene, Paola; Falchi, Mario; Dogliotti, Eugenia

2015-01-01

Highlights: • Increased levels and different types of intracellular radical species as well as an altered glutathione redox state characterize XP-A human cells when compared to normal. • A more glycolytic metabolism and higher ATP levels are associated with alteration of mitochondrial morphology and response to mitochondrial toxicants when XPA is defective. • XP-A human cells show increased spontaneous micronuclei frequency, a hallmark of cancer risk. - Abstract: Xeroderma pigmentosum (XP)-A patients are characterized by increased solar skin carcinogenesis and present also neurodegeneration. XPA deficiency is associated with defective nucleotide excision repair (NER) and increased basal levels of oxidatively induced DNA damage. In this study we search for the origin of increased levels of oxidatively generated DNA lesions in XP-A cell genome and then address the question of whether increased oxidative stress might drive genetic instability. We show that XP-A human primary fibroblasts present increased levels and different types of intracellular reactive oxygen species (ROS) as compared to normal fibroblasts, with O_2_−· and H_2O_2 being the major reactive species. Moreover, XP-A cells are characterized by decreased reduced glutathione (GSH)/oxidized glutathione (GSSG) ratios as compared to normal fibroblasts. The significant increase of ROS levels and the alteration of the glutathione redox state following silencing of XPA confirmed the causal relationship between a functional XPA and the control of redox balance. Proton nuclear magnetic resonance ("1H NMR) analysis of the metabolic profile revealed a more glycolytic metabolism and higher ATP levels in XP-A than in normal primary fibroblasts. This perturbation of bioenergetics is associated with different morphology and response of mitochondria to targeted toxicants. In line with cancer susceptibility, XP-A primary fibroblasts showed increased spontaneous micronuclei (MN) frequency, a hallmark of cancer

An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients

Energy Technology Data Exchange (ETDEWEB)

Parlanti, Eleonora [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Pietraforte, Donatella; Iorio, Egidio; Visentin, Sergio; De Nuccio, Chiara [Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Zijno, Andrea; D’Errico, Mariarosaria; Simonelli, Valeria [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Sanchez, Massimo [Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Fattibene, Paola [Department of Technology and Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Falchi, Mario [National AIDS Center, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Dogliotti, Eugenia, E-mail: dogliotti@iss.it [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy)

2015-12-15

Highlights: • Increased levels and different types of intracellular radical species as well as an altered glutathione redox state characterize XP-A human cells when compared to normal. • A more glycolytic metabolism and higher ATP levels are associated with alteration of mitochondrial morphology and response to mitochondrial toxicants when XPA is defective. • XP-A human cells show increased spontaneous micronuclei frequency, a hallmark of cancer risk. - Abstract: Xeroderma pigmentosum (XP)-A patients are characterized by increased solar skin carcinogenesis and present also neurodegeneration. XPA deficiency is associated with defective nucleotide excision repair (NER) and increased basal levels of oxidatively induced DNA damage. In this study we search for the origin of increased levels of oxidatively generated DNA lesions in XP-A cell genome and then address the question of whether increased oxidative stress might drive genetic instability. We show that XP-A human primary fibroblasts present increased levels and different types of intracellular reactive oxygen species (ROS) as compared to normal fibroblasts, with O{sub 2−}· and H{sub 2}O{sub 2} being the major reactive species. Moreover, XP-A cells are characterized by decreased reduced glutathione (GSH)/oxidized glutathione (GSSG) ratios as compared to normal fibroblasts. The significant increase of ROS levels and the alteration of the glutathione redox state following silencing of XPA confirmed the causal relationship between a functional XPA and the control of redox balance. Proton nuclear magnetic resonance ({sup 1}H NMR) analysis of the metabolic profile revealed a more glycolytic metabolism and higher ATP levels in XP-A than in normal primary fibroblasts. This perturbation of bioenergetics is associated with different morphology and response of mitochondria to targeted toxicants. In line with cancer susceptibility, XP-A primary fibroblasts showed increased spontaneous micronuclei (MN) frequency, a

NCBI nr-aa BLAST: CBRC-PHAM-01-1025 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PHAM-01-1025 ref|XP_001697359.1| magnesium chelatase subunit H [Chlamydomonas ...reinhardtii] gb|EDP00299.1| magnesium chelatase subunit H [Chlamydomonas reinhardtii] XP_001697359.1 7e-05 47% ...

NCBI nr-aa BLAST: CBRC-ETEL-01-0761 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ETEL-01-0761 ref|XP_001208938.1| predicted protein [Aspergillus terreus NIH262...4] gb|EAU38330.1| predicted protein [Aspergillus terreus NIH2624] XP_001208938.1 0.001 32% ...

NCBI nr-aa BLAST: CBRC-MMUS-09-0186 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MMUS-09-0186 ref|XP_001213909.1| predicted protein [Aspergillus terreus NIH262...4] gb|EAU35178.1| predicted protein [Aspergillus terreus NIH2624] XP_001213909.1 0.076 27% ...

NCBI nr-aa BLAST: CBRC-XTRO-01-3294 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-XTRO-01-3294 ref|XP_545267.2| PREDICTED: similar to Cholinesterase precursor (Acylcholi...ne acylhydrolase) (Choline esterase II) (Butyrylcholine esterase) (Pseudocholinesterase) [Canis familiaris] XP_545267.2 1e-134 48% ...

NCBI nr-aa BLAST: CBRC-ACAR-01-0762 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ACAR-01-0762 ref|XP_545267.2| PREDICTED: similar to Cholinesterase precursor (Acylcholi...ne acylhydrolase) (Choline esterase II) (Butyrylcholine esterase) (Pseudocholinesterase) [Canis familiaris] XP_545267.2 2e-98 40% ...

NCBI nr-aa BLAST: CBRC-ACAR-01-0695 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ACAR-01-0695 ref|XP_545267.2| PREDICTED: similar to Cholinesterase precursor (Acylcholi...ne acylhydrolase) (Choline esterase II) (Butyrylcholine esterase) (Pseudocholinesterase) [Canis familiaris] XP_545267.2 1e-107 43% ...

NCBI nr-aa BLAST: CBRC-OANA-01-0213 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-OANA-01-0213 ref|XP_001519860.1| PREDICTED: similar to putative G-protein-coupled receptor; Method: con...ceptual translation supplied by author [Ornithorhynchus anatinus] XP_001519860.1 0.0 100% ...

NCBI nr-aa BLAST: CBRC-MDOM-03-0004 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MDOM-03-0004 ref|XP_001561687.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM36833.1| hypothetical protein [Leishmania braziliensis] XP_001561687.1 0.17 25% ...

NCBI nr-aa BLAST: CBRC-VPAC-01-1220 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-VPAC-01-1220 ref|XP_001564931.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM45054.1| hypothetical protein [Leishmania braziliensis] XP_001564931.1 0.41 26% ...

NCBI nr-aa BLAST: CBRC-AGAM-07-0019 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-07-0019 ref|XP_001562848.1| hypothetical protein, unknown function [Leishmania brazil...iensis] emb|CAM37281.1| hypothetical protein, unknown function [Leishmania braziliensis] XP_001562848.1 0.70 31% ...

NCBI nr-aa BLAST: CBRC-HSAP-09-0074 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-09-0074 ref|XP_001564659.1| dynein heavy chain, putative [Leishmania brazil...iensis] emb|CAM38725.1| dynein heavy chain, putative [Leishmania braziliensis] XP_001564659.1 7.8 31% ...

NCBI nr-aa BLAST: CBRC-VPAC-01-0352 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-VPAC-01-0352 ref|XP_001564931.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM45054.1| hypothetical protein [Leishmania braziliensis] XP_001564931.1 1.7 25% ...

NCBI nr-aa BLAST: CBRC-MDOM-07-0066 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MDOM-07-0066 ref|XP_001561687.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM36833.1| hypothetical protein [Leishmania braziliensis] XP_001561687.1 0.19 25% ...

75 FR 60131 - National Institute of Mental Health; Notice of Meeting

Science.gov (United States)

2010-09-29

..., the business or professional affiliation of the interested person. All written comments received by...] 2000, XP Home, XP Pro, 2003 Server or Vista; (C) Stable 56k, cable modem, ISDN, DSL or better Internet...

Mobile systems development

DEFF Research Database (Denmark)

Pedersen, Ole; Kristiansen, Martin Lund; Kammersgaard, Marc N.

2007-01-01

in XP. In general, we find XP well-suited for mobile systems development projects. However, based on our experiences and an analytical comparison we propose the following modifications to XP: Make an essential design to avoid the worst time waste during refactoring. For faster development, reuse code......Development of mobile software is Surrounded by much uncertainty. Immature software platforms on mobile clients, a highly competitive market calling for innovation, efficiency and effectiveness in the development life cycle, and lacking end-user adoption are just some of the realities facing...... development teams in the mobile software industry. By taking a process view on development of mobile systems we seek to explore the strengths and limitations of eXtreme Programming (XP) in the context of mobile software development. Following an experimental approach a mobile systems development project...

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

Science.gov (United States)

Ijaz, Ambreen; Basit, Sulman; Gul, Ajab; Batool, Lilas; Hussain, Abrar; Afzal, Sibtain; Ramzan, Khushnooda; Ahmad, Jamil; Wali, Abdul

2018-03-23

Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14 Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c.2251-1G>C) in patients from six families (A-F) and a homozygous nonsense mutation (c.1399C>T; p.Gln467*) in patients of family G. This is the first report of XPC mutations, underlying XP phenotype, in Pakistani population. © 2018 Japanese Teratology Society.

NCBI nr-aa BLAST: CBRC-CJAC-01-0394 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-CJAC-01-0394 ref|XP_001213282.1| predicted protein [Aspergillus terreus NIH262...4] gb|EAU35906.1| predicted protein [Aspergillus terreus NIH2624] XP_001213282.1 3e-23 33% ...

NCBI nr-aa BLAST: CBRC-RMAC-10-0011 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-RMAC-10-0011 ref|XP_001210139.1| nucleolar protein 12 [Aspergillus terreus NIH...2624] gb|EAU38699.1| nucleolar protein 12 [Aspergillus terreus NIH2624] XP_001210139.1 5.9 30% ...

NCBI nr-aa BLAST: CBRC-AGAM-02-0057 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-02-0057 ref|XP_001216572.1| predicted protein [Aspergillus terreus NIH262...4] gb|EAU32213.1| predicted protein [Aspergillus terreus NIH2624] XP_001216572.1 2e-08 29% ...

EST Table: FS759318 [KAIKOcDNA[Archive

Lifescience Database Archive (English)

Full Text Available 25 aa ref|XP_975608.1| PREDICTED: similar to putative lysosomal glucocerebrosidas...%/225 aa gi|91087345|ref|XP_975608.1| PREDICTED: similar to putative lysosomal glucocerebrosidase [Tribolium castaneum] FS759318 fcaL ...

NCBI nr-aa BLAST: CBRC-TTRU-01-0608 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TTRU-01-0608 ref|XP_001519860.1| PREDICTED: similar to putative G-protein-coupled receptor; Method: con...ceptual translation supplied by author [Ornithorhynchus anatinus] XP_001519860.1 1e-07 31% ...

NCBI nr-aa BLAST: CBRC-TBEL-01-0301 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TBEL-01-0301 ref|XP_001553037.1| predicted protein [Botryotinia fuckeliana B05....10] gb|EDN28863.1| predicted protein [Botryotinia fuckeliana B05.10] XP_001553037.1 0.79 28% ...

NCBI nr-aa BLAST: CBRC-ETEL-01-0112 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-ETEL-01-0112 ref|XP_001550850.1| predicted protein [Botryotinia fuckeliana B05....10] gb|EDN31514.1| predicted protein [Botryotinia fuckeliana B05.10] XP_001550850.1 0.001 31% ...

NCBI nr-aa BLAST: CBRC-DDIS-01-0111 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-DDIS-01-0111 ref|XP_646081.1| alkaline dihydroceramidase [Dictyostelium discoi...deum AX4] gb|EAL72137.1| alkaline dihydroceramidase [Dictyostelium discoideum AX4] XP_646081.1 1e-164 100% ...

NCBI nr-aa BLAST: CBRC-MDOM-08-0239 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-MDOM-08-0239 ref|XP_001561687.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM36833.1| hypothetical protein [Leishmania braziliensis] XP_001561687.1 1e-07 37% ...

NCBI nr-aa BLAST: CBRC-HSAP-07-0007 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-07-0007 ref|XP_001562439.1| hypothetical protein, unknown function [Leishmania brazil...iensis] emb|CAM39471.1| hypothetical protein, unknown function [Leishmania braziliensis] XP_001562439.1 6e-33 37% ...

NCBI nr-aa BLAST: CBRC-STRI-01-1892 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-1892 ref|XP_001561686.1| hypothetical protein [Leishmania braziliensis... MHOM/BR/75/M2904] emb|CAM36832.1| hypothetical protein [Leishmania braziliensis] XP_001561686.1 3e-08 35% ...

75 FR 33815 - National Institute of Mental Health; Notice of Meeting

Science.gov (United States)

2010-06-15

... and when applicable, the business or professional affiliation of the interested person. All written...) Windows[reg] 2000, XP Home, XP Pro, 2003 Server or Vista; (C) Stable 56k, cable modem, ISDN, DSL or better...