WorldWideScience

Sample records for sporadic neutral layers

  1. Analysis of wave-like oscillations in parameters of sporadic E layer and neutral atmosphere

    Science.gov (United States)

    Mošna, Z.; Koucká Knížová, P.

    2012-12-01

    The present study mainly concerns the wave-like activity in the ionospheric sporadic E layer (Es) and in the lower lying stratosphere. The proposed analysis involves parameters describing the state of plasma in the sporadic E layer. Critical frequencies foEs and layer heights hEs were measured at the Pruhonice station (50°N, 14.5°E) during summer campaigns 2004, 2006 and 2008. Further, we use neutral atmosphere (temperature data at 10 hPa) data from the same time interval. The analysis concentrates on vertically propagating wave-like structures within distant atmospheric regions. By means of continuous wavelet transform (CWT) we have detected significant wave-like oscillation at periods covering tidal and planetary oscillation domains both in the Es layer parameters (some of them were reported earlier, for instance in works of Abdu et al., 2003; Pancheva and Mitchel, 2004; Pancheva et al., 2003; Šauli and Bourdillon, 2008) and in stratospheric temperature variations. Further analyses using cross wavelet transform (XWT) and wavelet coherence analysis (WTC) show that despite high wave-like activity in a wide period range, there are only limited coherent wave-like bursts present in both spectra. Such common coherent wave bursts occur on periods close to eigen-periods of the terrestrial atmosphere. We suppose that vertical coupling between atmospheric regions realized by vertically propagating planetary waves occurs predominantly on periods close to those of Rossby modes. Analysis of the phase shift between data from distant atmospheric regions reveals high variability and very likely supports the non-linear scenario of the vertical coupling provided by planetary waves.

  2. Analysis of wave-like oscillations in parameters of sporadic E layer and neutral atmosphere

    Czech Academy of Sciences Publication Activity Database

    Mošna, Zbyšek; Koucká Knížová, Petra

    90-91, SI (2012), s. 172-178 ISSN 1364-6826. [IAGA/ICMA/CAWSES-II TG4 Workshop on Vertical Coupling in the Atmosphere-Ionosphere System /4./. Prague, 14.02.2011-18.02.2011] R&D Projects: GA AV ČR IAA300420704 Institutional support: RVO:68378289 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.417, year: 2012 http://www.sciencedirect.com/science/article/pii/S1364682612001186

  3. Investigation on the relationship among sporadic Na, sporadic E, Field aligned irregularities and neutral winds

    Science.gov (United States)

    Sundararajan, Sridharan; Patra, Amit Kumar; Pant, Tarun; Gurubaran, Subramanian; Raghunath, Karnam

    In the Mesosphere and Lower Thermosphere region (80-100 km), metallic atoms, namely, sodium, potassium, lithium, Iron etc are formed due to ablation of meteors. The lidars based on resonance fluorescence principle has been used to study the vertical distribution of sodium atoms, because of their large abundance than other metals. The profiles of sodium density sometimes show enhancement by a factor of 2 than the normal layer in a narrow altitude region of 2 km and on these occasions, they are called sporadic sodium layer, or briefly Ns. On the other hand, there are observations on sporadic E and radar observations of Field Aligned Irregularities (FAI) associated with these sporadic E. Some investigations have been made to understand the relationship between sporadic E and FAI. Considering that sporadic E is composed of metallic ions and the time of metallic ions are larger compared to other ions, the sodium observations in the same height region would be of significant importance to understand the process involved. Despite a few past observations, no clear picture has emerged due to lack of simultaneous measurements of these parameters. The simultaneous observations of FAI echoes by the Indian MST radar and sodium concentration by the sodium lidar at Gadanki (13.5o N, 79.2o E) are being used to investigate the above mentioned relationship. The Sporadic E and neutral wind information are obtained from the ionosonde, meteor/MF radar observations from Trivandrum (8.5o N, 77E) and Tirunelveli (8.7o N, 77.8o E). The results obtained will be presented during the meeting.

  4. Sporadic potassium layers and their connection to sporadic E layers in the mesopause region at Beijing, China

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    Jing Jiao

    2017-06-01

    Full Text Available A double-laser beam lidar to measure potassium (K layer at Beijing (40.5° N, 116.2° E was successfully developed in 2010. The parameters of sporadic Ks layers and their distributions were given. The seasonal distribution of Ks occurrence frequency was obtained, with two maxima in July and January. The seasonal distributions of sporadic Es layer occurrence frequency over Beijing differ from those of Ks. However, the good correlation between Es and Ks in the case-by-case studies supports the mechanism of neutralization of metal ions in a descending Es layer.

  5. The Role of Iron In Sporadic E Layers

    Science.gov (United States)

    Vondrak, T.; Woodcock, K. R. I.; Plane, J. M. C.

    Sporadic E layers in the lower thermosphere are mostly composed of metallic ions, of which Fe+ is the most abundant. Because dielectric recombination (Fe+ + elec- tron) is very slow, the lifetime of Fe+ above about 100 km is at least several days. However, below this height molecular ions such as FeO+, FeO2+ and FeN2+ form in- creasingly rapidly through reactions with O3, O2 and N2, respectively. These undergo rapid dissociative recombination with electrons, causing Fe+ to be neutralised increas- ingly rapidly as a sporadic E layer descends. Indeed, this is the most likely mechanism for the formation of the sporadic neutral Fe layers that are observed by lidar. However, atomic O plays a very important role in reducing these molecular ions back to Fe+, competing with dissociative recombination and thus slowing the rate at which Fe+ is neutralised and a sporadic E layer dissipates. This paper will discuss a laboratory and modelling study of the reactions of FeO+, FeO2+ and FeN2+ with atomic O. These reactions were studied (for the first time) in a fast flow tube, using the pulsed laser ablation of a rotating iron rod as the source of Fe+ ions in the upstream section of the tube. Reactants were then added to produce molecular ions, and atomic O further downstream through a movable injector. Fe+ and the molecular ions were detected at the downstream end of the tube using a two-stage quadrupole mass spectrometer. The spectroscopy of the FeO+ ion, observed by laser induced fluorescence, will also be discussed as a candidate for future ground-based lidar studies of the ion chemistry of the lower thermosphere.

  6. Sporadic sodium and E layers observed during the summer 2002 MaCWAVE/MIDAS rocket campaign

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    B. P. Williams

    2006-07-01

    Full Text Available On 5 July 2002, a MaCWAVE (Mountain and Convective Waves Ascending VErtically payload launched from Andøya Rocket Range, Norway, observed narrow enhanced layers of electron density that were nearly coincident with sporadic sodium layers measured by the Weber sodium lidar at the nearby ALOMAR Observatory. We investigate the formation mechanism of these layers using the neutral wind and temperature profiles measured directly by the lidar and the vertical motion deduced from the sodium mixing ratio. Through comparisons of the lidar data to the sporadic E in situ data, we find support for the concentration and downward motion of ions to an altitude where chemical models predict the rapid conversion of sodium ions to neutral sodium.

  7. Observations of neutral winds, wind shears, and wave structure during a sporadic-E/QP event

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    M. F. Larsen

    2005-10-01

    Full Text Available The second Sporadic E Experiment over Kyushu (SEEK-2 was carried out on 3 August 2002, during an active sporadic-E event that also showed quasi-periodic (QP echoes. Two rockets were launched into the event from Kagoshima Space Center in southern Japan 15 min apart. Both carried a suite of instruments, but the second rocket also released a trimethyl aluminum (TMA trail to measure the neutral winds and turbulence structure. In a number of earlier measurements in similar conditions, large winds and shears that were either unstable or close to instability were observed in the altitude range where the ionization layer occurred. The SEEK-2 wind measurements showed similar vertical structure, but unlike earlier experiments, there was a significant difference between the up-leg and down-leg wind profiles. In addition, wave or billow-like fluctuations were evident in the up-leg portion of the trail, while the lower portion of the down-leg trail was found to have extremely strong turbulence that led to a rapid break-up of the trail. The large east-west gradient in the winds and the strong turbulence have not been observed before. The wind profiles and shears, as well as the qualitative characteristics of the strong turbulence are presented, along with a discussion of the implications of the dynamical features. Keywords. Ionosphere (Mid-latitude ionosphere; Ionospheric irregularities; Electric field and currents

  8. Planetary and tidal wave-type oscillations in the ionospheric sporadic E layers over Tehran region

    Science.gov (United States)

    Karami, K.; Ghader, S.; Bidokhti, A. A.; Joghataei, M.; Neyestani, A.; Mohammadabadi, A.

    2012-04-01

    It is believed that in the lower ionosphere, particularly in the ionospheric sporadic E (Es) layers (90-130 km), the planetary and tidal wave-type oscillations in the ionized component indicate the planetary and tidal waves in the neutral atmosphere. In the present work, the presence of wave-type oscillations, including planetary and tidal waves in the ionospheric sporadic E layers over Tehran region is examined. Data measured by a digital ionosonde at the ionospheric station of the Institute of Geophysics, University of Tehran, from July 2006 to June 2007 are used to investigate seasonal variations of planetary and tidal waves activities. For the purpose of accurate comparison between different seasons, wavelet transform is applied to time series of foEs and h‧Es, namely, the critical frequency and virtual height of Es layers, respectively. The results show that the sporadic E layers over Tehran region are strongly under the influence of upward propagation of waves from below. More specifically, among diverse range of periodicities in the sporadic E layers, we found that diurnal (24 hours) and semidiurnal (12 hours) oscillations in all seasons for both parameters. Moreover, terdiurnal (8 hours) tide-like variation is observed during spring and summer for foEs parameter and summer and winter for h‧Es. Furthermore, the results show that diurnal tidal waves obtain their maximum activities during autumn and winter seasons, and their activities decrease during the late spring and summer. In addition, periods of about 2, 4, 6, 10, 14, and 16 days in our observation verifies the hypothesis of upward propagation of planetary waves from lower atmosphere to the ionosphere. Moreover, planetary waves have their maximum activities during equinox.

  9. The formation of sporadic E layers by a vortical perturbation excited in a horizontal wind shear flow

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    G. G. Didebulidze

    2008-06-01

    Full Text Available The formation of the mid-latitude sporadic E layers (Es layers by an atmospheric vortical perturbation excited in a horizontal shear flow (horizontal wind with a horizontal linear shear is investigated. A three-dimensional atmospheric vortical perturbation (atmospheric shear waves, whose velocity vector is in the horizontal plane and has a vertical wavenumber kz≠0, can provide a vertical shear of the horizontal wind. The shear waves influence the vertical transport of heavy metallic ions and their convergence into thin and dense horizontal layers. The proposed mechanism takes into account the dynamical influence of the shear wave velocity in the horizontal wind on the vertical drift velocity of the ions. It also can explain the multi-layer structure of Es layers. The pattern of the multi-layer structure depends on the value of the shear-wave vertical wavelength, the ion-neutral collision frequency and the direction of the background horizontal wind. The modelling of formation of sporadic E layers with a single and a double peak is presented. Also, the importance of shear wave coupling with short-period atmospheric gravity waves (AGWs on the variations of sporadic E layer ion density is examined and discussed.

  10. Searching for effects caused by thunderstorms in midlatitude sporadic E layers

    Science.gov (United States)

    Barta, Veronika; Haldoupis, Christos; Sátori, Gabriella; Buresova, Dalia; Chum, Jaroslav; Pozoga, Mariusz; Berényi, Kitti A.; Bór, József; Popek, Martin; Kis, Árpád; Bencze, Pál

    2017-08-01

    Possible thunderstorm - sporadic E (Es) layer coupling effects are investigated during two measurement periods, one in 2013 and one in 2014. The analysis was based on ionospheric observations obtained from a Digisonde at Pruhonice, the Czech Republic, an ionosonde at Nagycenk, Hungary, and a 3.59 MHz five-point continuous HF Doppler system located in the western part of the Czech Republic. The latter is capable of detecting ionospheric wave-like variations caused by neutral atmospheric waves generated by thunderstorms. The present study searches for possible impacts on Es layers caused by the presence of two active thunderstorms: one passing across the Czech Republic on June 20, 2013 (19:00-01:00 LT), and one through Hungary on July 30, 2014 (11:00-01:00 LT). During these two time periods, presence and parameters of Es layer were inferred from ionograms, recorded every minute at Pruhonice and every two minutes at Nagycenk, whereas concurrent lightning activity was monitored by the LINET detection network. In addition, transient luminous events (TLEs) were also observed during both nights from Sopron, Hungary and from Nýdek, the Czech Republic. A noticeable fact was the reduction and disappearance of the ongoing Es layer activity during part of the time in both of the traversing thunderstorms. The analysis indicated that the critical frequency foEs dropped below ionosonde detection levels in both cases, possibly because of thunderstorm activity effects. This option, however, needs more case studies in order to be further substantiated.

  11. Electric field measurements of DC and long wavelength structures associated with sporadic-E layers and QP radar echoes

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    S. Ohtsuki

    2005-10-01

    Full Text Available Electric field and plasma density data gathered on a sounding rocket launched from Uchinoura Space Center, Japan, reveal a complex electrodynamics associated with sporadic-E layers and simultaneous observations of quasi-periodic radar echoes. The electrodynamics are characterized by spatial and temporal variations that differed considerably between the rocket's upleg and downleg traversals of the lower ionosphere. Within the main sporadic-E layer (95–110 km on the upleg, the electric fields were variable, with amplitudes of 2–4 mV/m that changed considerably within altitude intervals of 1–3 km. The identification of polarization electric fields coinciding with plasma density enhancements and/or depletions is not readily apparent. Within this region on the downleg, however, the direction of the electric field revealed a marked change that coincided precisely with the peak of a single, narrow sporadic-E plasma density layer near 102.5 km. This shear was presumably associated with the neutral wind shear responsible for the layer formation. The electric field data above the sporadic-E layer on the upleg, from 110 km to the rocket apogee of 152 km, revealed a continuous train of distinct, large scale, quasi-periodic structures with wavelengths of 10–15 km and wavevectors oriented between the NE-SW quadrants. The electric field structures had typical amplitudes of 3–5 mV/m with one excursion to 9 mV/m, and in a very general sense, were associated with perturbations in the plasma density. The electric field waveforms showed evidence for steepening and/or convergence effects and presumably had mapped upwards along the magnetic field from the sporadic-E region below. Candidate mechanisms to explain the origin of these structures include the Kelvin-Helmholtz instability and the Es-layer instability. In both cases, the same shear that formed the sporadic-E layer would provide the energy to generate the km-scale structures. Other possibilities

  12. Hall magnetohydrodynamics of neutral layers

    International Nuclear Information System (INIS)

    Huba, J.D.; Rudakov, L.I.

    2003-01-01

    New analytical and numerical results of the dynamics of inhomogeneous, reversed field current layers in the Hall limit (i.e., characteristic length scales < or approx. the ion inertial length) are presented. Specifically, the two- and three-dimensional evolution of a current layer that supports a reversed field plasma configuration and has a density gradient along the current direction is studied. The two-dimensional study demonstrates that a density inhomogeneity along the current direction can dramatically redistribute the magnetic field and plasma via magnetic shock-like or rarefaction waves. The relative direction between the density gradient and current flow plays a critical role in the evolution of the current sheet. One important result is that the current sheet can become very thin rapidly when the density gradient is directed opposite to the current. The three-dimensional study uses the same plasma and field configuration as the two-dimensional study but is also initialized with a magnetic field perturbation localized along the current channel upstream of the plasma inhomogeneity. The perturbation induces a magnetic wave structure that propagates in the direction of the electron drift (i.e., opposite to the current). The propagating wave structure is a Hall phenomenon associated with magnetic field curvature. The interaction between the propagating wave structure and the evolving current layer can lead to rapid magnetic field line reconnection. The results are applied to laboratory and space plasma processes

  13. Multi-layer structure of mid-latitude sporadic-E observed during the SEEK-2 campaign

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    T. Ono

    2005-10-01

    Full Text Available In the mid-latitude ionospheric region, sporadic-E layers (Es layers have often been observed, revealing multiple layers. The Es layers observed during the SEEK-2 rocket campaign showed double electron density peaks; namely, there are stable lower peaks and relatively unstable upper peaks. We examined the effects of wind shear and the electric fields on the generation of the multiple layer structure, in comparison with the electron density profile, the neutral wind, and the DC electric field observed by the S310 rocket experiments. The results showed that the neutral wind shear is mainly responsible for the generation of the lower layer, while the DC electric field makes a significant contribution to the formation of the upper layer. The difference between the lower and upper layers was also explained by the enhanced AC electric field observed at about 103–105 km altitude. The external DC electric field intensity is expected to be ~5 mV/m, which is enough to contribute to generate the Es layers in the ionosphere. Keywords. Ionosphere (Electric fields; Ionospheric irregularities, Mid-latitude ionosphere

  14. Research on Stress Neutral Layer Offset in the Straightening Process

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    Hailian Gui

    2015-01-01

    Full Text Available The stress neutral layer offset is analyzed by theoretical and numerical calculation methods. In traditional straightening theory, the stress neutral layer was consistent with the geometric central layer. However, there is a phenomenon that the stress neutral layer has some offset with the geometric neutral layer. This offset is a very important factor for improving the precision of the straightening force. The formula of the stress neutral layer offset is obtained by a theoretical method and the change law is given by numerical calculation method. The neutral layer offset theory provides the theoretical basis for establishing the model of straightening force precisely.

  15. Radio tomographic imaging of sporadic-E layers during SEEK-2

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    P. A. Bernhardt

    2005-10-01

    Full Text Available During the SEEK-2 Rocket Campaign in August 2002, a Dual Band Beacon (DBB transmitting to Ground Receivers provided unique data on E-Region electron densities. Information from two rocket beacons and four ground receivers yielded multiple samples of E-region horizontal and vertical variations. The radio beacon measurements were made at four sites (Uchinoura, Tarumizu, Tanegashima, Takazaki in Japan for two rockets (S310-31 and S310-32 launched by the Institute of Space and Aeronautical Science (ISAS. Analysis was completed for four sets of beacon data to provide electron density images of sporadic-E layers. Signals from the two-frequency beacons on the SEEK-2 rockets were processed to yield total electron content (TEC data that was converted into electron density measurements. Wide variations in layer structures were detected. These included horizontal sporadic-E variations, vertical profiles of double, single, and weak layers. The radio beacon measurements were shown to be in agreement with the in-situ SEEK-2 sensors. The first tomographic image of a sporadic-E layer was produced from the data. The rocket beacon technique was shown to be an excellent tool to study sporadic-E layers because absolute TEC accuracy of 0.01 TEC Units can be easily obtained and, with proper receiver placement, electron density images can be produced using computerized ionospheric tomography with better than 1km horizontal and vertical resolution. Keywords. Ionospheric irregularities – Instruments and techniques – Mid-latitude ionosphere

  16. Magnetic eta index and the ability to forecast sporadic E layer appearance

    Science.gov (United States)

    Dziak-Jankowska, Beata; Stanislawska, Iwona; Pozoga, Mariusz; Tomasik, Lukasz; Ernst, Tomasz

    2012-07-01

    We analysed the correlation of the changes of the magnetic vertical component with the ionospheric deviations from monthly median of the E layer characteristics. Promising results indicate that the eta parameter can be used to predict sporadic E layer during magnetically quiet days. Our previous work concern the data from only one year - 2004. During the descending phase of solar cycle in 2004 there was not numerous amount of quiet days. We extend our research to other years starting from 1996 and focusing on 2007 - 2009, years of the prolonged solar minimum. The analysis shows that under magnetically quiet circumstances the magnetic index eta indicates large magnetic disturbance, especially in vertical component when other magnetic indices inform about quiet magnetic conditions. The results indicate that the increase of the magnetic eta index (the ratio of the variations of vertical component of the external magnetic field to the horizontal component) is associated with the emergence of sporadic E layer or with increase of foEs critical frequency of sporadic E layer. The appearance of sporadic E layer followed 1-2 h after growth of magnetic index eta. An important conclusion is that the analysis of the hourly ionospheric data does not give 100% correlation between the increase of eta and the emergence of Es layer, however, studies of dense measurement data show that the correlation is almost 100%. An advantage of the eta index is the fact that after eliminating the effect of currents induced within the Earth, eta index bring independent and meaningful information on the system of current in the ionosphere. Hence, the eta index could be an important element of the ionosphere monitoring and can be used to predict such local phenomenon like the appearance of the sporadic E layer.

  17. Observation of electron biteout regions below sporadic E layers at polar latitudes

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    G. A. Lehmacher

    2015-03-01

    Full Text Available The descent of a narrow sporadic E layer near 95 km altitude over Poker Flat Research Range in Alaska was observed with electron probes on two consecutive sounding rockets and with incoherent scatter radar during a 2 h period near magnetic midnight. A series of four trimethyl aluminum chemical releases demonstrated that the Es layer remained just slightly above the zonal wind node, which was slowly descending due to propagating long-period gravity waves. The location of the layer is consistent with the equilibrium position due to combined action of the wind shear and electric fields. Although the horizontal electric field could not be measured directly, we estimate that it was ~ 2 mV m−1 southward, consistent with modeling the vertical ion drift, and compatible with extremely quiet conditions. Both electron probes observed deep biteout regions just below the Es enhancements, which also descended with the sporadic layers. We discuss several possibilities for the cause of these depletions; one possibility is the presence of negatively charged, nanometer-sized mesospheric smoke particles. Such particles have recently been detected in the upper mesosphere, but not yet in immediate connection with sporadic E. Our observations of electron depletions suggest a new process associated with sporadic E.

  18. Mechanism for the formation of sporadic-E layers in the high-latitude ionosphere

    Energy Technology Data Exchange (ETDEWEB)

    Vlasov, M.N.; Mishin, E.V.; Telegin, V.A.

    1980-09-01

    A model of the collective interaction of precipitating electrons and the ionospheric plasma is used to explain the formation of short-duration sporadic-E layers in the high-latitude ionosphere. The changes produced in electron density by this collective interaction mechanism are considered.

  19. Seasonal variability and descent of mid-latitude sporadic E layers at Arecibo

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    N. Christakis

    2009-03-01

    Full Text Available Sporadic E layers (Es follow regular daily patterns in variability and altitude descent, which are determined primarily by the vertical tidal wind shears in the lower thermosphere. In the present study a large set of sporadic E layer incoherent scatter radar (ISR measurements are analyzed. These were made at Arecibo (Geog. Lat. ~18° N; Magnetic Dip ~50° over many years with ISR runs lasting from several hours to several days, covering evenly all seasons. A new methodology is applied, in which both weak and strong layers are clearly traced by using the vertical electron density gradient as a function of altitude and time. Taking a time base equal to the 24-h local day, statistics were obtained on the seasonal behavior of the diurnal and semidiurnal tidal variability and altitude descent patterns of sporadic E at Arecibo. The diurnal tide, most likely the S(1,1 tide with a vertical wavelength around 25 km, controls fully the formation and descent of the metallic Es layers at low altitudes below 110 km. At higher altitudes, there are two prevailing layers formed presumably by vertical wind shears associated mainly with semidiurnal tides. These include: 1 a daytime layer starting at ~130 km around midday and descending down to 105 km by local midnight, and 2 a less frequent and weaker nighttime layer which starts prior to midnight at ~130 km, descending downwards at somewhat faster rate to reach 110 km by sunrise. The diurnal and semidiurnal-like pattern prevails, with some differences, in all seasons. The differences in occurrence, strength and descending speeds between the daytime and nighttime upper layers are not well understood from the present data alone and require further study.

  20. Thunderstorm related variations of the ionospheric sporadic E layer over Rome

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    Barta, Veronika; Scotto, Carlo; Pietrella, Marco

    2013-04-01

    Meteorological events in the lower atmosphere can affect the ionosphere by electromagnetic and mechanical processes. One type of the latter ones is the internal atmospheric gravity waves (AGWs) which can often be generated by thunderstorms. According to a Superposed Epoch Analyses (SEA) using the time series of the critical frequency (foEs) and virtual height (h'Es) of the sporadic E layer and WWLLN (World Wide Lightning Location Network) lightning data over the ionospheric station of Rome (41.9° 12.5°) there is a statistically significant decrease in the foEs of the sporadic E layer after the time of the lightnings. This may indicate a sudden decrease in the electron density of the sporadic E layer associated to lightnings. In order to understand the physical explanation for this phenomenon further studies are performed as follows: a SEA for different seasons and for daytime - nightime lightnings separately. Direction of arrival of thunderstorms is also taken into account.

  1. Occurrence of the blanketing sporadic E layer during the recovery phase of the October 2003 superstorm

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    Denardini, Clezio Marcos; Resende, Laysa Cristina Araújo; Moro, Juliano; Chen, Sony Su

    2016-05-01

    We have routinely monitored the total frequency ( ftEs) and the blanketing frequency ( fbEs) of sporadic E layers with the digital sounder under the magnetic equator in the Brazilian sector. Sporadic layers appear in the equatorial region (Esq) at heights between 90 and 130 km, mainly due to irregularities in the equatorial electrojet current. However, during the recovery phase of the October 2003 superstorm, an anomalous intensification of the ionospheric density that exceeded the normal ambient background values for local time and location was observed. The parameter fbEs rose to almost 7.5 MHz during this event, due to a type "c" blanketing sporadic layer (Esc), which is driven by wind shear. This result is discussed in terms of the atmosphere dynamics based on magnetic signature of the equatorial electrojet current using magnetometer data. Also, using data measured by sensors onboard the Geostationary Operational Environmental Satellite (GOES) 10 we analyze the possible influence of the solar flare-associated X-ray flux as an additional source of ionization.

  2. The influence of tidal winds in the formation of blanketing sporadic e-layer over equatorial Brazilian region

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    Resende, Laysa Cristina Araujo; Batista, Inez Staciarini; Denardini, Clezio Marcos; Batista, Paulo Prado; Carrasco, Alexander José; Andrioli, Vânia Fátima; Moro, Juliano

    2018-06-01

    This work analysis the blanketing sporadic layers (Esb) behavior over São Luís, Brazil (2° 31‧ S, 44° 16‧ W, dip: -4.80) which is classified as a transition region between equatorial and low-latitude. Hence, some peculiarities can appear as Esb occurrence instead of the common Esq, which is a non-blanketing irregularity layer. The analysis presented here was obtained using a modified version of a theoretical model for the E region (MIRE), which computes the densities of the metallic ions (Fe+ and Mg+) and the densities of the main molecular ions (NO+, O2+, N2+) by solving the continuity and momentum equations for each one of them. In that model, the Es layer physics driven by both diurnal and semidiurnal tidal winds are taken into account and it was extended in height coverage by adding a novel neutral wind model derived from the all-sky meteor radar measurements. Thus, we provide more trustworthy results related to the Es layer formation in the equatorial region. We verified the contribution of each tidal wind component to the Esb layer formation in this equatorial region. Additionally, we compared the Es layer electron density computed by MIRE with the data obtained by using the blanketing frequency parameter (fbEs) deduced from ionograms. The results show that the diurnal component of the tidal wind is more important in the Esb layer formation whereas the semidiurnal component has a little contribution in our simulations. Finally, it was verified that the modified MIRE presented here can be used to study the Esb layers occurrence over the equatorial region in the Brazilian sector.

  3. Searching for effects caused by thunderstorms in midlatitude sporadic E layers

    Czech Academy of Sciences Publication Activity Database

    Barta, V.; Haldoupis, C.; Sátori, G.; Burešová, Dalia; Chum, Jaroslav; Pozoga, M.; Berényi, K. A.; Bór, J.; Popek, Martin; Kis, Á.; Bencze, P.

    2017-01-01

    Roč. 161, August (2017), s. 150-159 ISSN 1364-6826 R&D Projects: GA ČR(CZ) GC15-07281J; GA ČR(CZ) GAP209/12/2440; GA ČR(CZ) GA14-31899S Institutional support: RVO:68378289 Keywords : atmospheric gravity waves * ionosphere coupling * lightning * sporadic E layer * sprites * thunderstorm Subject RIV: DG - Athmosphere Sciences, Meteorology OBOR OECD: Meteorology and atmospheric sciences Impact factor: 1.326, year: 2016 https://arxiv.org/abs/1708.00270

  4. Coherent structures in the Es layer and neutral middle atmosphere

    Czech Academy of Sciences Publication Activity Database

    Mošna, Zbyšek; Koucká Knížová, Petra; Potužníková, Kateřina

    136 B, December (2015), s. 155-162 ISSN 1364-6826 R&D Projects: GA ČR(CZ) GA15-24688S; GA ČR(CZ) GAP209/12/2440 Institutional support: RVO:68378289 Keywords : critical frequency foEs * mesospheric temperature * mesospheric winds * planetary waves * Rossby mode * sporadic layer * stratospheric temperature Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.463, year: 2015 http://www.sciencedirect.com/science/article/pii/S1364682615001273

  5. Sporadic and Thermospheric Enhanced Sodium Layers Observed by a Lidar Chain over China

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    Xue, X.

    2013-12-01

    We report the statistical features of sporadic sodium layers (SSLs) and the thermospheric enhanced sodium layers (TeSLs) observed by a lidar chain located at Beijing (40.2N,116.2E), Hefei (31.8N, 117.3E), Wuhan (30.5N, 114.4E), and Haikou (19.5N, 109.1E). The average SSL occurrence rate was approximately 46.0, 12.3, 13.8, and 15.0 hr per SSL at Beijing, Hefei, Wuhan, and Haikou, respectively. However, the TeSLs occurred relatively infrequently and were more likely to appear at low and high latitudinal sites. Both the SSLs and TeSLs at four lidar sites showed evident summer enhancements and correlated well with Es (foEs>4MHz). The co-observations of SSLs at three lidar site pairs, i.e., Hefei -- Beijing, Hefei -- Wuhan and Hefei -- Beijing, indicated that a large-scale SSL extended horizontally for at least a few hundred kilometers and exhibited a tidal-induced modulation. Moreover, the SSLs were better correlated for the Hefei -- Wuhan and Hefei -- Haikou pairs than the Hefei -- Beijing pair, which suggested a difference in the dynamical/chemical process in mesosphere and lower thermosphere (MLT) between the Beijing site and the other sites.

  6. On the influence of solar activity on the mid-latitude sporadic E layer

    Science.gov (United States)

    Pezzopane, Michael; Pignalberi, Alessio; Pietrella, Marco

    2015-09-01

    To investigate the influence of solar cycle variability on the sporadic E layer (Es), hourly measurements of the critical frequency of the Es ordinary mode of propagation, foEs, and of the blanketing frequency of the Es layer, fbEs, recorded from January 1976 to December 2009 at the Rome (Italy) ionospheric station (41.8° N, 12.5° E), were examined. The results are: (1) a high positive correlation between the F10.7 solar index and foEs as well as between F10.7 and fbEs, both for the whole data set and for each solar cycle separately, the correlation between F10.7 and fbEs being much higher than the one between F10.7 and foEs; (2) a decreasing long-term trend of the F10.7, foEs and fbEs time series, with foEs decreasing more rapidly than F10.7 and fbEs; (3) clear and statistically significant peaks at 11 years in the foEs and fbEs time series, inferred from Lomb-Scargle periodograms.

  7. A case study on generation mechanisms of a sporadic sodium layer above Tromsø (69.6° N during a night of high auroral activity

    Directory of Open Access Journals (Sweden)

    T. Takahashi

    2015-08-01

    Full Text Available We have quantitatively evaluated generation mechanisms of a sporadic sodium layer (SSL based on observational data obtained by multiple instruments at a high-latitude station: Ramfjordmoen, Tromsø, Norway (69.6° N, 19.2° E. The sodium lidar observed an SSL at 21:18 UT on 22 January 2012. The SSL was observed for 18 min, with a maximum sodium density of about 1.9 × 1010 m−3 at 93 km with a 1.1 km thickness. The European Incoherent Scatter (EISCAT UHF radar observed a sporadic E layer (Es layer above 90 km from 20:00 to 23:00 UT. After 20:00 UT, the Es layer gradually descended and reached 94 km at 21:18 UT when the SSL appeared at the same altitude. In this event, considering the abundance of sodium ions (10 % or less, the Es layer could provide only about 37 % or less of the sodium atoms to the SSL. We have investigated a temporal development of the normal sodium ion layer with a consideration of chemical reactions and the effect of the (southwestward electric field using observational values of the neutral temperature, electron density, horizontal neutral wind, and electric field. This calculation has shown that those processes, including contributions of the Es layer, would provide about 88 % of sodium atoms of the SSL. The effects of meteor absorption and auroral particle sputtering appear to be less important. Therefore, we have concluded that the major source of the SSL was sodium ions in a normal sodium ion layer. Two processes – namely the downward transportation of sodium ions from a normal sodium ion layer due to the electric field and the additional supply of sodium ions from the Es layer under relatively high electron density conditions (i.e., in the Es layer – played a major role in generating the SSL in this event. Furthermore, we have found that the SSL was located in a lower-temperature region and that the temperature inside the SSL did not show any remarkable temperature enhancements.

  8. Energetics and structure of the lower E region associated with sporadic E layer

    Directory of Open Access Journals (Sweden)

    K.-I. Oyama

    2008-09-01

    Full Text Available The electron temperature (Te, electron density (Ne, and two components of the electric field were measured from the height of 90 km to 150 km by one of the sounding rockets launched during the SEEK-2 campaign. The rocket went through sporadic E layer (Es at the height of 102 km–109 km during ascent and 99 km–108 km during decent, respectively. The energy density of thermal electrons calculated from Ne and Te shows the broad maximum in the height range of 100–110 km, and it decreases towards the lower and higher altitudes, which implies that a heat source exists in the height region of 100 km–110 km. A 3-D picture of Es, that was drawn by using Te, Ne, and the electric field data, corresponded to the computer simulation; the main structure of Es is projected to a higher altitude along the magnetic line of force, thus producing irregular structures of Te, Ne and electric field in higher altitude.

  9. Energetics and structure of the lower E region associated with sporadic E layer

    Directory of Open Access Journals (Sweden)

    K.-I. Oyama

    2008-09-01

    Full Text Available The electron temperature (Te, electron density (Ne, and two components of the electric field were measured from the height of 90 km to 150 km by one of the sounding rockets launched during the SEEK-2 campaign. The rocket went through sporadic E layer (Es at the height of 102 km–109 km during ascent and 99 km–108 km during decent, respectively. The energy density of thermal electrons calculated from Ne and Te shows the broad maximum in the height range of 100–110 km, and it decreases towards the lower and higher altitudes, which implies that a heat source exists in the height region of 100 km–110 km. A 3-D picture of Es, that was drawn by using Te, Ne, and the electric field data, corresponded to the computer simulation; the main structure of Es is projected to a higher altitude along the magnetic line of force, thus producing irregular structures of Te, Ne and electric field in higher altitude.

  10. An Experiment to Study Sporadic Atom Layers in the Earth's Mesosphere and Lower Thermosphere (SAL)

    Science.gov (United States)

    Kelley, Michael C.

    1999-01-01

    The Sudden Atom Layer (SAL) Rocket was successfully launched in February 1998. All instruments worked well except those supplied by NASA Goddard Space Flight Center. (A dummy weight was launched for the neutral mass spectrometer and the ion version died shortly after lift-off.) A paper has already been published in GRL concerning the dust layer detected by an on board instrument and compared to ground-based observations made at the Arecibo Observatory by Cornell graduate student S. Collins (lidar) and Q. Zhou (radar). Collins presented a comparison of the sodium lidar data and onboard observations with a theoretical model by Plane and Cox at the Fan AGU Meeting. In addition Gelinas and Kelley presented a review paper dealing with the entire SAL instrument complement at the same meeting. An unexpected new explanation for the outer scale of E region plasma irregularities has come out of the data set. We anticipate at least a total of four papers will be published within a year of launch.

  11. Coherent structures in the Es layer and neutral middle atmosphere

    Science.gov (United States)

    Mošna, Zbyšek; Knížová, Petra Koucká; Potužníková, Kateřina

    2015-12-01

    The present paper shows results from the summer campaign performed during geomagnetically quiet period from June 1 to August 31, 2009. Within time-series of stratospheric and mesospheric temperatures at pressure levels 10-0.1 hPa, mesospheric winds measured in Collm, Germany, and the sporadic E-layer parameters foEs and hEs measured at the Pruhonice station we detected specific coherent wave-bursts in planetary wave domain. Permanent wave-like activity is observed in all analyzed data sets. However, the number of wave-like structures persistent in large range of height from the stratosphere to lower ionosphere is limited. The only coherent modes that are detected on consequent levels of the atmosphere are those corresponding to eigenmodes of planetary waves.

  12. The enhancement of neutral metal Na layer above thunderstorms

    Science.gov (United States)

    Yu, Bingkun; Xue, Xianghui; Lu, Gaopeng; Kuo, Chengling; Dou, Xiankang; Gao, Qi; Qie, Xiushu; Wu, Jianfei; Tang, Yihuan

    2017-04-01

    Na (sodium) exists as layers of atoms in the mesosphere/lower thermosphere (MLT) at altitudes between 80 and 105 km. It has lower ionization potential of 5.139 eV than atmospheric species, such as O2 (12.06 eV). Tropospheric thunderstorms affect the lower ionosphere and the ionospheric sporadic E (Es) at 100 km can also be influenced by lightning. The mechanism is expected to be associated with transient luminous events (TLE) as red sprites and gigantic jets at upper atmosphere. However, measurements of ionospheric electric fields of 20mV·m-1 above thunderstorms are less than estimated value (>48 0mV·m-1) to excite ionization in the lower ionosphere. We found an enhancement of Na layer above thunderstorms. The increase of Na density in the statistical result can be as much as 500 cm-3 and it will have an impact on ionospheric chemistry and modify the conductivity properties of the MLT region. The ionospheric observations made with two digisondes near the Na lidar, the thunderstorm model, ionosphere model, and Na chemistry model are all used to discuss the possible mechanisms responsible for the enhancement of Na layer after thunderstorms.

  13. Response of neutral boundary-layers to changes of roughness

    DEFF Research Database (Denmark)

    Sempreviva, Anna Maria; Larsen, Søren Ejling; Mortensen, Niels Gylling

    1990-01-01

    boundary layer where again the drag laws can be used to estimate the surface wind. To study this problem, data have been sampled for two years from four 30-m meteorological masts placed from 0 to 30 km inland from the North Sea coast of Jutland in Denmark. The present analysis is limited to neutral......When air blows across a change in surface roughness, an internal boundary layer (IBL) develops within which the wind adapts to the new surface. This process is well described for short fetches, > 1 km. However, few data exist for large fetches on how the IBL grows to become a new equilibrium...... stratification, and the surface roughness is the main parameter. The analysis of wind data and two simple models, a surface layer and a planetary boundary layer (PBL) model, are described. Results from both models are discussed and compared with data analysis. Model parameters have been evaluated and the model...

  14. Height and critical frequency variations of the sporadic-E layer at midlatitudes

    Czech Academy of Sciences Publication Activity Database

    Šauli, Petra; Bourdillon, A.

    2008-01-01

    Roč. 70, č. 15 (2008), s. 1904-1910 ISSN 1364-6826 R&D Projects: GA AV ČR IAA300420704 Grant - others:European Union(XE) COST 296 Institutional research plan: CEZ:AV0Z30420517 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere * Wavelet transform Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.667, year: 2008

  15. Equatorial E Region Electric Fields and Sporadic E Layer Responses to the Recovery Phase of the November 2004 Geomagnetic Storm

    Science.gov (United States)

    Moro, J.; Resende, L. C. A.; Denardini, C. M.; Xu, J.; Batista, I. S.; Andrioli, V. F.; Carrasco, A. J.; Batista, P. P.; Schuch, N. J.

    2017-12-01

    Equatorial E region electric fields (EEFs) inferred from coherent radar data, sporadic-E (Es) layers observed from a digital ionosonde data, and modeling results are used to study the responses of the equatorial E region over São Luís (SLZ, 2.3°S, 44.2°W, -7° dip angle), Brazil, during the super storm of November 2004. The EEF is presented in terms of the zonal (Ey) and vertical (Ez) components in order to analyze the corresponding characteristics of different types of Es seen in ionograms and simulated with the E region ionospheric model. We bring out the variabilities of Ey and Ez components with storm time changes in the equatorial E region. In addition, some aspects of the electric fields and Es behavior in three cases of weak, very weak, and strong Type II occurrences during the recovery phase of the geomagnetic storm are discussed. The connection between the enhanced occurrence and suppressions of the Type II irregularities and the q-type Es (Esq) controlled by electric fields, with the development or disruption of the blanketing sporadic E (Esb) layers produced by wind shear mechanism, is also presented. The mutual presence of Esq along with the Esb occurrences is a clear indicator of the secular drift of the magnetic equator and hence that of the equatorial electrojet (EEJ) over SLZ. The results show evidence about the EEJ and Es layer electrodynamics and coupling during geomagnetic disturbance time electric fields.

  16. Study of sporadic E layers based on GPS radio occultation measurements and digisonde data over the Brazilian region

    Science.gov (United States)

    Resende, Laysa C. A.; Arras, Christina; Batista, Inez S.; Denardini, Clezio M.; Bertollotto, Thainá O.; Moro, Juliano

    2018-04-01

    This work presents new results about sporadic E-layers (Es layers) using GPS (global positioning system) radio occultation (RO) measurements obtained from the FORMOSAT-3/COSMIC satellites and digisonde data. The RO profiles are used to study the Es layer occurrence as well as its intensity of the signal-to-noise ratio (SNR) of the 50 Hz GPS L1 signal. The methodology was applied to identify the Es layer on RO measurements over Cachoeira Paulista, a low-latitude station in the Brazilian region, in which the Es layer development is not driven tidal winds only as it is at middle latitudes. The coincident events were analyzed using the RO technique and ionosonde observations during the year 2014 to 2016. We used the electron density obtained using the blanketing frequency parameter (fbEs) and the Es layer height (h'Es) acquired from the ionograms to validate the satellite measurements. The comparative results show that the Es layer characteristics extracted from the RO measurements are in good agreement with the Es layer parameters from the digisonde.

  17. Case study of inclined sporadic E layers in the Earth's ionosphere observed by CHAMP/GPS radio occultations: Coupling between the tilted plasma layers and internal waves

    Science.gov (United States)

    Gubenko, Vladimir N.; Pavelyev, A. G.; Kirillovich, I. A.; Liou, Y.-A.

    2018-04-01

    We have used the radio occultation (RO) satellite data CHAMP/GPS (Challenging Minisatellite Payload/Global Positioning System) for studying the ionosphere of the Earth. A method for deriving the parameters of ionospheric structures is based upon an analysis of the RO signal variations in the phase path and intensity. This method allows one to estimate the spatial displacement of a plasma layer with respect to the ray perigee, and to determine the layer inclination and height correction values. In this paper, we focus on the case study of inclined sporadic E (Es) layers in the high-latitude ionosphere based on available CHAMP RO data. Assuming that the internal gravity waves (IGWs) with the phase-fronts parallel to the ionization layer surfaces are responsible for the tilt angles of sporadic plasma layers, we have developed a new technique for determining the parameters of IGWs linked with the inclined Es structures. A small-scale internal wave may be modulating initially horizontal Es layer in height and causing a direction of the plasma density gradient to be rotated and aligned with that of the wave propagation vector k. The results of determination of the intrinsic wave frequency and period, vertical and horizontal wavelengths, intrinsic vertical and horizontal phase speeds, and other characteristics of IGWs under study are presented and discussed.

  18. Common volume coherent and incoherent scatter radar observations of mid-latitude sporadic E-layers and QP echoes

    Directory of Open Access Journals (Sweden)

    D. L. Hysell

    2004-09-01

    Full Text Available Common-volume observations of sporadic E-layers made on 14-15 June 2002 with the Arecibo incoherent scatter radar and a 30MHz coherent scatter radar imager located on St. Croix are described. Operating in dual-beam mode, the Arecibo radar detected a slowly descending sporadic E-layer accompanied by a series of dense E-region plasma clouds at a time when the coherent scatter radar was detecting quasi-periodic (QP echoes. Using coherent radar imaging, we collocate the sources of the coherent scatter with the plasma clouds observed by Arecibo. In addition to patchy, polarized scattering regions drifting through the radar illuminated volume, which have been observed in previous imaging experiments, the 30MHz radar also detected large-scale electrostatic waves in the E-region over Puerto Rico, with a wavelength of about 30km and a period of about 10min, propagating to the southwest. Both the intensity and the Doppler shifts of the coherent echoes were modulated by the wave.

  19. Electron density and plasma waves in mid-latitude sporadic-E layer observed during the SEEK-2 campaign

    Directory of Open Access Journals (Sweden)

    M. Wakabayashi

    2005-10-01

    Full Text Available The SEEK-2 campaign was carried out over Kyushu Island in Japan on 3 August 2002, by using the two sounding rockets of S310-31 and S310-32. This campaign was planned to elucidate generation mechanisms of Quasi-Periodic Echoes (QPEs associated with mid-latitude sporadic-E (Es layers. Electron number densities were successfully measured in the Es layers by using the impedance probe on board two rockets. The plasma waves in the VLF and ELF ranges were also observed on board the S310-32 rocket. Results of electron density measurement showed that there were one or two major peaks in the Es layers along the rockets' trajectories near the altitude of about 10km. There were some smaller peaks associated with the main Es layers in the altitude range from 90 to 120 km. These density peaks were distributed in a very large extent during the SEEK-2 campaign. The Es layer structure is also measured by using the Fixed Bias Probe (FBP, which has a high spatial resolution of several meters (the impedance probe has an altitude resolution of about 400 m. The comparison with the total electron content (TEC measured by the Dual Band Beacon revealed that the Es layer was also modulated in the horizontal direction with the scale size of 30–40 km. It was shown that the QP echoes observed by the ground-based coherent radar come from the major density peak of the Es layer. The plasma wave instrument detected the enhancement of VLF and ELF plasma waves associated with the operation of the TMA release, and also with the passage of the Es layers. Keywords. Ionosphere (Ionospheric irregularities; Midlatitude ionosphere; Plasma temeperature and density

  20. Copy number of the Adenomatous Polyposis Coli gene is not always neutral in sporadic colorectal cancers with loss of heterozygosity for the gene

    International Nuclear Information System (INIS)

    Zauber, Peter; Marotta, Stephen; Sabbath-Solitare, Marlene

    2016-01-01

    Changes in the number of alleles of a chromosome may have an impact upon gene expression. Loss of heterozygosity (LOH) indicates that one allele of a gene has been lost, and knowing the exact copy number of the gene would indicate whether duplication of the remaining allele has occurred. We were interested to determine the copy number of the Adenomatous Polyposis Coli (APC) gene in sporadic colorectal cancers with LOH. We selected 38 carcinomas with LOH for the APC gene region of chromosome 5, as determined by amplification of the CA repeat region within the D5S346 loci. The copy number status of APC was ascertained using the SALSA® MLPA® P043-B1 APC Kit. LOH for the DCC gene, KRAS gene mutation, and microsatellite instability were also evaluated for each tumor, utilizing standard polymerase chain reaction methods. No tumor demonstrated microsatellite instability. LOH of the DCC gene was also present in 33 of 36 (91.7 %) informative tumors. A KRAS gene mutation was present in 16 of the 38 (42.1 %) tumors. Twenty-four (63.2 %) of the tumors were copy number neutral, 10 (26.3 %) tumors demonstrated major loss, while two (5.3 %) showed partial loss. Two tumors (5.3 %) had copy number gain. Results of APC and DCC LOH, KRAS and microsatellite instability indicate our colorectal cancer cases were typical of sporadic cancers following the ‘chromosomal instability’ pathway. The majority of our colorectal carcinomas with LOH for APC gene are copy number neutral. However, one-third of our cases showed copy number loss, suggesting that duplication of the remaining allele is not required for the development of a colorectal carcinoma

  1. Copy number of the Adenomatous Polyposis Coli gene is not always neutral in sporadic colorectal cancers with loss of heterozygosity for the gene.

    Science.gov (United States)

    Zauber, Peter; Marotta, Stephen; Sabbath-Solitare, Marlene

    2016-03-12

    Changes in the number of alleles of a chromosome may have an impact upon gene expression. Loss of heterozygosity (LOH) indicates that one allele of a gene has been lost, and knowing the exact copy number of the gene would indicate whether duplication of the remaining allele has occurred. We were interested to determine the copy number of the Adenomatous Polyposis Coli (APC) gene in sporadic colorectal cancers with LOH. We selected 38 carcinomas with LOH for the APC gene region of chromosome 5, as determined by amplification of the CA repeat region within the D5S346 loci. The copy number status of APC was ascertained using the SALSA® MLPA® P043-B1 APC Kit. LOH for the DCC gene, KRAS gene mutation, and microsatellite instability were also evaluated for each tumor, utilizing standard polymerase chain reaction methods. No tumor demonstrated microsatellite instability. LOH of the DCC gene was also present in 33 of 36 (91.7%) informative tumors. A KRAS gene mutation was present in 16 of the 38 (42.1%) tumors. Twenty-four (63.2%) of the tumors were copy number neutral, 10 (26.3%) tumors demonstrated major loss, while two (5.3%) showed partial loss. Two tumors (5.3%) had copy number gain. Results of APC and DCC LOH, KRAS and microsatellite instability indicate our colorectal cancer cases were typical of sporadic cancers following the 'chromosomal instability' pathway. The majority of our colorectal carcinomas with LOH for APC gene are copy number neutral. However, one-third of our cases showed copy number loss, suggesting that duplication of the remaining allele is not required for the development of a colorectal carcinoma.

  2. Hemispherical F2-layer differences and the neutral atmosphere

    International Nuclear Information System (INIS)

    Kotadia, K.M.; Almaula, N.R.

    1978-01-01

    A study is made of noon and early morning (05 h) critical frequencies of the F2-layer through one solar cycle (1958-1969) at 8 pairs of dip-conjugate stations at latitudes lower than +- 60 0 dip. The study reveals some characteristic features of the F2-layer, such as (1) at sunspot minimum the noon foF2 values exhibit a marked semiannual variation with equinoxial maxima in the north and a dominant annual variation with a maximum in December in the south; (2) the annual component of the foF2 variation increases appreciably with solar activity in the north, while the semiannual component increases in the south. They show maxima at latitudes near +- 40 0 dip and minima near the equator. The early morning foF2 values essentially go through an annual wave with maxima in local summer in both hemispheres; there is, however, a significant semiannual component in the south. The annual component is largest at +- 40 0 dip while the semiannual component has peaks at the equator and at 40 0 S dip. The differences between the behaviour of foF2 in the two hemispheres as reported in this paper appear to be in conformity with current thinking on the effects of (a) the global neutral wind pattern and (b) changes in the relative proportions of atomic and molecular gas species. (author)

  3. An Experiment to Study Sporadic Sodium Layers in the Earth's Mesosphere and Lower Thermosphere

    Science.gov (United States)

    Swenson, Charles M.

    2002-01-01

    The Utah State University / Space Dynamics Lab was funded under a NASA Grant. This investigation has been part of Rockwell Universities Sudden Atom Layer Investigation (SAL). USU/SDL provided an electron density measurement instrument, the plasma frequency probe, which was launched on the vehicle 21.117 from Puerto-Rico in February of 1998. The instrument successfully measured electron density as designed and measurement techniques included in this version of the Plasma Frequency probe provided valuable insight into the electron density structures associated with sudden sodium layers in a collisional plasma. Electron density data was furnished to Rockwell University but no science meetings were held by Rockwell Data from the instrument was presented to the scientific community at the URSI General Session in 1999. A paper is in preparation for publication in Geophysical Research Letters. The following document provides a summary of the experiment and data obtained as a final report on this grant.

  4. CFD simulation of neutral ABL flows; Atmospheric Boundary Layer

    Energy Technology Data Exchange (ETDEWEB)

    Xiaodong Zhang

    2009-04-15

    This work is to evaluate the CFD prediction of Atmospheric Boundary Layer flow field over different terrains employing Fluent 6.3 software. How accurate the simulation could achieve depend on following aspects: viscous model, wall functions, agreement of CFD model with inlet wind velocity profile and top boundary condition. Fluent employ wall function roughness modifications based on data from experiments with sand grain roughened pipes and channels, describe wall adjacent zone with Roughness Height (Ks) instead of Roughness Length (z{sub 0}). In a CFD simulation of ABL flow, the mean wind velocity profile is generally described with either a logarithmic equation by the presence of aerodynamic roughness length z{sub 0} or an exponential equation by the presence of exponent. As indicated by some former researchers, the disagreement between wall function model and ABL velocity profile description will result in some undesirable gradient along flow direction. There are some methods to improve the simulation model in literatures, some of them are discussed in this report, but none of those remedial methods are perfect to eliminate the streamwise gradients in mean wind speed and turbulence, as EllipSys3D could do. In this paper, a new near wall treatment function is designed, which, in some degree, can correct the horizontal gradients problem. Based on the corrected model constants and near wall treatment function, a simulation of Askervein Hill is carried out. The wind condition is neutrally stratified ABL and the measurements are best documented until now. Comparison with measured data shows that the CFD model can well predict the velocity field and relative turbulence kinetic energy field. Furthermore, a series of artificial complex terrains are designed, and some of the main simulation results are reported. (au)

  5. More evidence for a planetary wave link with midlatitude E region coherent backscatter and sporadic E layers

    Directory of Open Access Journals (Sweden)

    K. Schlegel

    Full Text Available Measurements of midlatitude E region coherent backscatter obtained during four summers with SESCAT, a 50 MHz Doppler system operating in Crete, Greece, and concurrent ionosonde recordings from the same ionospheric volume obtained with a CADI for one of these summers, are used to analyse the long-term variability in echo and Es occurrence. Echo and Es layer occurrences, computed in percent of time over a 12-h nighttime interval, take the form of time sequences. Linear power spectrum analysis shows that there are dominant spectral peaks in the range of 2–9 days, the most commonly observed periods appearing in two preferential bands, of 2–3 days and 4–7 days. No connection with geomagnetic activity was found. The characteristics of these periodicities compare well with similar properties of planetary waves, which suggests the possibility that planetary waves are responsible for the observed long-term periodicities. These findings indicate also a likely close relation between planetary wave (PW activity and the well known but not well understood seasonal Es dependence. To test the PW postulation, we used simultaneous neutral wind data from the mesopause region around 95 km, measured from Collm, Germany. Direct comparison of the long-term periodicities in echo and Es layer occurrence with those in the neutral wind show some reasonable agreement. This new evidence, although not fully conclusive, is the first direct indication in favour of a planetary wave role on the unstable midlatitude E region ionosphere. Our results suggest that planetary waves observation is a viable option and a new element into the physics of midlatitude Es layers that needs to be considered and investigated.Key words: Ionosphere (ionosphere irregularities; mid-latitude ionosphere – Meteorology and atmospheric dynamics (waves and tides

  6. CFD Modeling of Non-Neutral Atmospheric Boundary Layer Conditions

    DEFF Research Database (Denmark)

    Koblitz, Tilman

    model results. A method is developed how to simulate the time-dependant non-neutral ABL flow over complex terrain: a precursor simulation is used to specify unsteady inlet boundary conditions on complex terrain domains. The advantage of the developed RANS model framework is its general applicability...... characteristics of neutral and non-neutral ABL flow. The developed ABL model significantly improves the predicted flow fields over both flat and complex terrain, when compared against neutral models and measurements....... cost than e.g. using large-eddy simulations. The developed ABL model is successfully validated using a range of different test cases with increasing complexity. Data from several large scale field campaigns, wind tunnel experiments, and previous numerical simulations is presented and compared against...

  7. Influence of plasma background including neutrals on scrape-off layer filaments using 3D simulations

    Directory of Open Access Journals (Sweden)

    D. Schwörer

    2017-08-01

    Full Text Available This paper investigates the effect of the plasma background, including neutrals in a self-consistent way, on filaments in the scrape-off layer (SOL of fusion devices. A strong dependency of filament motion on background density and temperature is observed. The radial filament motion shows an increase in velocity with decreasing background density and increasing background temperature. In the simulations presented here, three neutral-filament interaction models have been compared, one with a static neutral background, one with no interaction between filaments and neutrals, and one co-evolving the neutrals self consistently with the filaments. With the background conditions employed here, which do not show detachment, there are no significant effects of neutrals on filaments, as by the time the filament reaches maximum velocity, the neutral density has not changed significantly.

  8. Structure of Rotavirus Outer-Layer Protein VP7 Bound with a Neutralizing Fab

    Energy Technology Data Exchange (ETDEWEB)

    Aoki, Scott T.; Settembre, Ethan C.; Trask, Shane D.; Greenberg, Harry B.; Harrison, Stephen C.; Dormitzer, Philip R.; (Stanford-MED); (CH-Boston)

    2009-06-17

    Rotavirus outer-layer protein VP7 is a principal target of protective antibodies. Removal of free calcium ions (Ca{sup 2+}) dissociates VP7 trimers into monomers, releasing VP7 from the virion, and initiates penetration-inducing conformational changes in the other outer-layer protein, VP4. We report the crystal structure at 3.4 angstrom resolution of VP7 bound with the Fab fragment of a neutralizing monoclonal antibody. The Fab binds across the outer surface of the intersubunit contact, which contains two Ca{sup 2+} sites. Mutations that escape neutralization by other antibodies suggest that the same region bears the epitopes of most neutralizing antibodies. The monovalent Fab is sufficient to neutralize infectivity. We propose that neutralizing antibodies against VP7 act by stabilizing the trimer, thereby inhibiting the uncoating trigger for VP4 rearrangement. A disulfide-linked trimer is a potential subunit immunogen.

  9. Space-charge-limited ion flow through an ionizing neutral layer

    International Nuclear Information System (INIS)

    Duvall, R.E.; Litwin, C.; Maron, Y.

    1993-01-01

    Space-charge-limited ion flow through an ionizing layer of neutral atoms is studied. The ion flow is between two parallel conducting plates (anode and cathode) with an externally applied voltage between them. An expanding layer of neutral atoms is adjacent to the anode surface, extending a finite distance into the anode--cathode gap. All ions originate either from the anode surface or from the ionization of neutrals; electrons originate only from ionization. Electrons are strongly magnetized by an externally applied, time-independent direct current (dc) magnetic field directed across the ion flow. The ions are unmagnetized, all motion being perpendicular to the conducting plates. Two different models of the anode layer were used to analyze this problem: a multifluid steady-state model and a single fluid time-dependent model. From both models it was found that the anode surface becomes shielded after the ion flux from the ionizing layer becomes larger than the space-charge-limited flux of the reduced gap between the neutral layer and cathode. Comparison was made between the time-dependent model and results from magnetically insulated ion beam diode (MID) experiments. Using an initial areal density of neutral hydrogen and carbon equal to the final observed electron areal density, comparison was made between calculated plasma shielding times and upper bounds on the shielding time observed in experiments. It was found that a layer of neutral hydrogen must contain a minimum of 15% carbon (by number density) to explain the rapid electric field screening observed in experiments

  10. Sporadic E S Layers at High Latitudes During a Magnetic Storm of March 17, 2015 According to the Vertical and Oblique Ionospheric Sounding Data

    Science.gov (United States)

    Blagoveshchensky, D. V.; Maltseva, O. A.; Anishin, M. M.; Rogov, D. D.

    2017-11-01

    We consider the behavior of the parameters of the ionospheric E s layers according to the vertical sounding at the Sodankylä observatory and oblique sounding at the Lovozero (Murmansk region)—Gor'kovskaya station (Leningrad region) path during a superstorm of March 17, 2015. Temporal and spatial behavior of these parameters is compared. It was found that the storm significantly distorted the normal course of variations of the sporadic E s layer characteristics. Specific behavior of the layers during a storm at points separated by about 300 km was detected. With the help of ray tracing calculations using the IRI model, oblique sounding ionograms were constructed for the radio path analyzed. Primary attention is given to the maximum usable frequency of the F 2 layer—MUF- F 2. Additionally, for the disturbed conditions where there is only a high-power E s layer on the experimental ionograms, the values of MUF- E s and the ratio K =MUF- E s/ f o E s for various cutoff frequencies f o E s of the E s layer and its altitudes {h}_{E_s} are calculated within the framework of the well-known approximations. Calculations for the case of weak disturbance and semitransparent E s layers are carried out with the IRI model adapted to the current diagnostics parameters. It was found that the calculated and experimental values of MUF- F 2 are close to each other or coincide, while this cannot be said about MUF- E s. The calculated and experimental values of MUF- E s can be matched in the model of mirror reflection from a flat layer for intense layers and the model of the E layer for thick E s layers of low intensity.

  11. The effect of moving waves on neutral marine atmospheric boundary layer

    Directory of Open Access Journals (Sweden)

    Sam Ali Al

    2014-01-01

    Full Text Available Large eddy simulations are performed to study the effects of wind-wave direction misalignment of the neutral marine atmospheric boundary layer over a wavy wall. The results show that the wind-wave misalignment has a significant effect on the velocity profiles and the pressure fluctuation over the wave surface. These effects are not confined to the near wave surface region but extend over the whole atmospheric surface layer.

  12. A statistical study of sporadic sodium layer observed by Sodium lidar at Hefei (31.8° N, 117.3° E

    Directory of Open Access Journals (Sweden)

    X.-K. Dou

    2009-06-01

    Full Text Available Sodium lidar observations of sporadic sodium layers (SSLs during the past 3 years at a mid-latitude location (Hefei, China, 31.8° N, 117.3° E are reported in this paper. From 64 SSL events detected in about 900 h of observation, an SSL occurrence rate of 1 event every 14 h at our location was obtained. This result, combined with previous studies, reveals that the SSL occurrence can be relatively frequent at some mid-latitude locations. Statistical analysis of main parameters for the 64 SSL events was performed. By examining the corresponding data from an ionosonde, a considerable correlation was found with a Pearson coefficient of 0.66 between seasonal variations of SSL and those of sporadic E (Es during nighttime, which was in line with the research by Nagasawa and Abo (1995. From comparison between observations from the University of Science and Technology of China (USTC lidar and from Wuhan Institute of Physics and Mathematics (WIPM lidar (Wuhan, China, 31° N, 114° E, the minimum horizontal range for some events was estimated to be over 500 km.

  13. Effects of sporadic E-layer characteristics on spread-F generation in the nighttime ionosphere near a northern equatorial anomaly crest during solar minimum

    Science.gov (United States)

    Lee, C. C.; Chen, W. S.

    2015-06-01

    This study is to know how the characteristics of sporadic E-layer (Es-layer) affect the generation of spread-F in the nighttime ionosphere near the crest of equatorial ionization anomaly during solar minimum. The data of Es-layer parameters and spread-F are obtained from the Chungli ionograms of 1996. The Es-layer parameters include foEs (critical frequency of Es-layer), fbEs (blanketing frequency of Es-layer), and Δf (≡foEs-fbEs). Results show that the nighttime variations of foEs and fbEs medians (Δf medians) are different from (similar to) that of the occurrence probabilities of spread-F. Because the total number of Es-layer events is greater than that of spread-F events, the comparison between the medians of Es-layer parameters and the occurrence probabilities of spread-F might have a shortfall. Further, we categorize the Es-layer and spread-F events into each frequency interval of Es-layer parameters. For the occurrence probabilities of spread-F versus foEs, an increasing trend is found in post-midnight of all three seasons. The increasing trend also exists in pre-midnight of the J-months and in post-midnight of all seasons, for the occurrence probabilities of spread-F versus Δf. These demonstrate that the spread-F occurrence increases with increasing foEs and/or Δf. Moreover, the increasing trends indicate that polarization electric fields generated in Es-layer assist to produce spread-F, through the electrodynamical coupling of Es-layer and F-region. Regarding the occurrence probabilities of spread-F versus fbEs, the significant trend only appears in post-midnight of the E-months. This implies that fbEs might not be a major factor for the spread-F formation.

  14. Simultaneous lidar observation of peculiar sporadic K and Na layers at São José dos Campos (23.1°S, 45.9°W), Brazil

    Science.gov (United States)

    Jiao, Jing; Yang, Guotao; Cheng, Xuewu; Liu, Zhengkuan; Wang, Jihong; Yan, Zhenzhong; Wang, Chi; Batista, Paulo; Pimenta, Alexandre; Andrioli, Vânia; Denardini, C. M.

    2018-04-01

    We present the first simultaneous observation of mesopause sodium (Na) and potassium (K) layer by a lidar which has Na and K channel simultaneously at the South Hemisphere site, São José dos Campos (23.1°S, 45.9°W). Measurements reported here were conducted on two nights with 3.5 and 8 h of observations in November 2016. On 20 November 2016, sporadic layers in both Na and K layer occurred above 100 km, and the higher layers corresponded well with sporadic E (Es) layer. And the density of Na at 100-105 km is higher than that at main layer around 90 km, but K density around 100 km is at least 3 times smaller compared with the K density around 90 km for the similar period. On 21 November 2016, both sporadic layers occurred in main layer height with obvious descending variations with time, which seems like tidal induced. Notably, the peak K/Na ratio slowly increased with time. And Na layer and K layer showed different processes along with time with K density reaching its maximum 1 h later than that of Na. Correlations of Na/K density, Es, and winds were also discussed.

  15. On the determination of the neutral drag coefficient in the convective boundary layer

    DEFF Research Database (Denmark)

    Grachev, A.A.; Fairall, C.W.; Larsen, Søren Ejling

    1998-01-01

    Based on the idea that free convection can be considered as a particular case of forced convection, where the gusts driven by the large-scale eddies are scaled with the Deardorff convective velocity scale, a new formulation for the neutral drag coefficient, C-Dn, in the convective boundary layer...... for mean wind speed less than about 2 m s(-1). The new approach also clarifies several contradictory results from earlier works. Some aspects related to an alternate definition of the neutral drag coefficient and the wind speed and the stress averaging procedure are considered....

  16. Effects of sporadic E-layer characteristics on spread-F generation in the nighttime midlatitude ionosphere: A climatological study

    Science.gov (United States)

    Lee, C. C.; Chen, W. S.

    2018-04-01

    The aim of this study is to examine the effects of Es-layer characteristics on spread-F generation in the nighttime midlatitude ionosphere. The Es-layer parameters and spread-F appearance of the 23rd solar cycle (1996-2008) are recorded by the Kokubunji ionosonde. The Es-layer parameters are foEs (critical frequency of Es-layer), fbEs (blanketing frequency of Es-layer), and Δf (≡foEs-fbEs). In order to completely explore the effects, the pre-midnight and post-midnight data are classified by seasons, solar activities, and geomagnetic conditions. Results show that the spread-F occurs more frequently in post-midnight and in summer. And, the occurrence probabilities of spread-F are greater, when the solar activity is lower. For the occurrence probabilities of spread-F versus foEs and Δf under geomagnetic quiet-conditions, the trend is increasing, when the associated probabilities are significant. These indicate that the spread-F occurrence increases with increasing foEs and/or Δf. Further, the increasing trends demonstrate that polarization electric fields generated in Es-layer would be helpful to generate spread-F, through the electrodynamical coupling of Es-layer and F-region. Moreover, this electrodynamical coupling is efficient not only under quiet-conditions but under disturbed-conditions, since the significant increasing trend can also be found under disturbed-conditions. Regarding the occurrence probabilities of spread-F versus fbEs, the evident trends are not in the majority. This implies that fbEs might not be a major factor for the spread-F formation.

  17. Association of radiowave absorption with E(sporadic)-activity

    International Nuclear Information System (INIS)

    Ganguly, S.

    1975-01-01

    Noontime radiowave absorption data for frequencies which are reflected below the height of sporadic-E layers show a strong positive correlation with the sporadic-E layer activity. The possibilities of atmospheric waves affecting both the sporadic-E activity as well as mesospheric ionization are suggested to explain this association

  18. Quantifying the thickness of the electrical double layer neutralizing a planar electrode: the capacitive compactness.

    Science.gov (United States)

    Guerrero-García, Guillermo Iván; González-Tovar, Enrique; Chávez-Páez, Martín; Kłos, Jacek; Lamperski, Stanisław

    2017-12-20

    The spatial extension of the ionic cloud neutralizing a charged colloid or an electrode is usually characterized by the Debye length associated with the supporting charged fluid in the bulk. This spatial length arises naturally in the linear Poisson-Boltzmann theory of point charges, which is the cornerstone of the widely used Derjaguin-Landau-Verwey-Overbeek formalism describing the colloidal stability of electrified macroparticles. By definition, the Debye length is independent of important physical features of charged solutions such as the colloidal charge, electrostatic ion correlations, ionic excluded volume effects, or specific short-range interactions, just to mention a few. In order to include consistently these features to describe more accurately the thickness of the electrical double layer of an inhomogeneous charged fluid in planar geometry, we propose here the use of the capacitive compactness concept as a generalization of the compactness of the spherical electrical double layer around a small macroion (González-Tovar et al., J. Chem. Phys. 2004, 120, 9782). To exemplify the usefulness of the capacitive compactness to characterize strongly coupled charged fluids in external electric fields, we use integral equations theory and Monte Carlo simulations to analyze the electrical properties of a model molten salt near a planar electrode. In particular, we study the electrode's charge neutralization, and the maximum inversion of the net charge per unit area of the electrode-molten salt system as a function of the ionic concentration, and the electrode's charge. The behaviour of the associated capacitive compactness is interpreted in terms of the charge neutralization capacity of the highly correlated charged fluid, which evidences a shrinking/expansion of the electrical double layer at a microscopic level. The capacitive compactness and its first two derivatives are expressed in terms of experimentally measurable macroscopic properties such as the

  19. Grafted polymers layers: neutral chains to charged chains; Couches de polymeres greffes: des chaines neutres aux chaines chargees

    Energy Technology Data Exchange (ETDEWEB)

    Mir, Y

    1995-09-29

    This work concerns an experimental study, by small angle neutrons scattering, of neutral or charged grafted polymers layers structures. The method consisted in exploiting the acknowledges got on neutral brushes, to reach the problem of grafted polyelectrolyte layers. The difficulty of charged layers making has been, until this day, an important obstacle to the experimental study of these systems. It has been partially resolved in the case of sodium sulfonate polystyrene layers, and allowed to study their structure. (N.C.). 72 refs., 74 figs., 24 tabs.

  20. Simple Identification of the Neutral Chlorinated Auxin in Pea by Thin Layer Chromatography

    DEFF Research Database (Denmark)

    Engvild, Kjeld Christensen

    1980-01-01

    to small volumes and chromatographed in CHCl3 or CCl4 solvent systems separating the chlorinated auxin from indoleacetonitrile and the methyl or ethyl esters of indoleacetic acid. Colour reaction was carried out with some of the Salkowski FeCl3 sprays of which Ehmann's FeCl3/dimethylaminobenzaldehyde......One of the neutral chlorinated auxins of immature pea seeds was readily identified by thin layer procedures simple enough to serve in student's laboratory courses. 4-Chloroindole-3-acetic acid methyl ester was extracted from 50 g of commercial, frozen peas by either water or acetone, concentrated...

  1. A spectral study of the mid-latitude sporadic E layer characteristic oscillations comparable to those of the tidal and the planetary waves

    Science.gov (United States)

    Pignalberi, A.; Pezzopane, M.; Zuccheretti, E.

    2015-01-01

    In this paper different spectral analyses are employed to investigate the tidal and planetary wave periodicities imprinted in the following two main characteristics of the sporadic E (Es) layer: the top frequency (ftEs) and the lowest virtual height (h‧Es). The study is based on ionograms recorded during the summertime of 2013, and precisely in June, July, August and September, by the Advanced Ionospheric Sounder by Istituto Nazionale di Geofisica e Vulcanologia (AIS-INGV) ionosondes installed at Rome (41.8°N, 12.5°E) and Gibilmanna (37.9°N, 14.0°E), Italy. It was confirmed that the diurnal and semidiurnal atmospheric tides play a fundamental role in the formation of the mid-latitude Es layers, acting through their vertical wind-shear forcing of the long-living metallic ions in the lower thermosphere, and at the same time it was found that the planetary atmospheric waves might affect the Es layers acting through their horizontal wind-shear forcing with periods close to the normal Rossby modes, that is 2, 5, 10 and 16 days. The wavelet analysis shows also that the ftEs and h‧Es tidal oscillations undergo a strong amplitude modulation with periods of several days and with important differences between the two parameters. This amplitude modulation, characterizing markedly the first thirty days of the ftEs spectrogram, suggests that Es layers are affected indirectly by planetary waves through their nonlinear interaction with the atmospheric tides at lower altitudes. This study wants to be a continuation of the Haldoupis et al. (2004) work in order to verify their results for the foEs characteristic and on the other hand to extend the study also to the h‧Es characteristic not yet shown so far. Anyhow, the study confirms that ionosonde data, especially those registered in summertime, represent a powerful tool for studying tidal and planetary waves properties and their climatology in the mesosphere-low-thermosphere region.

  2. Reconfigurable modified surface layers using plasma capillaries around the neutral inclusion regime

    Energy Technology Data Exchange (ETDEWEB)

    Varault, S. [ONERA—The French Aerospace Lab 2, Avenue Edouard Belin, BP4025, 31055 Toulouse Cedex (France); Universite Paul Sabatier—CNRS-Laplace 118, Route de Narbonne, F-31062 Toulouse Cedex 9 (France); Gabard, B. [ONERA—The French Aerospace Lab 2, Avenue Edouard Belin, BP4025, 31055 Toulouse Cedex (France); STAE—4, Rue Emile Monso, BP84234, 31030 Toulouse Cedex 4 (France); Crépin, T.; Bolioli, S. [ONERA—The French Aerospace Lab 2, Avenue Edouard Belin, BP4025, 31055 Toulouse Cedex (France); Sokoloff, J. [Universite Paul Sabatier—CNRS-Laplace 118, Route de Narbonne, F-31062 Toulouse Cedex 9 (France)

    2014-02-28

    We show both theoretically and experimentally reconfigurable properties achieved by plasma inclusions placed in modified surface layers generally used to tailor the transmission and beaming properties of electromagnetic bandgap based waveguiding structures. A proper parametrization of the plasma capillaries allows to reach the neutral inclusion regime, where the inclusions appear to be electromagnetically transparent, letting the surface mode characteristics unaltered. Varying the electron density of the plasma inclusions provoques small perturbations around this peculiar regime, and we observe significant modifications of the transmission/beaming properties. This offers a way to dynamically select the enhanced transmission frequency or to modify the radiation pattern of the structure, depending on whether the modified surface layer is placed at the entrance/exit of the waveguide.

  3. Reconfigurable modified surface layers using plasma capillaries around the neutral inclusion regime

    International Nuclear Information System (INIS)

    Varault, S.; Gabard, B.; Crépin, T.; Bolioli, S.; Sokoloff, J.

    2014-01-01

    We show both theoretically and experimentally reconfigurable properties achieved by plasma inclusions placed in modified surface layers generally used to tailor the transmission and beaming properties of electromagnetic bandgap based waveguiding structures. A proper parametrization of the plasma capillaries allows to reach the neutral inclusion regime, where the inclusions appear to be electromagnetically transparent, letting the surface mode characteristics unaltered. Varying the electron density of the plasma inclusions provoques small perturbations around this peculiar regime, and we observe significant modifications of the transmission/beaming properties. This offers a way to dynamically select the enhanced transmission frequency or to modify the radiation pattern of the structure, depending on whether the modified surface layer is placed at the entrance/exit of the waveguide

  4. On the Structure and Adjustment of Inversion-Capped Neutral Atmospheric Boundary-Layer Flows: Large-Eddy Simulation Study

    DEFF Research Database (Denmark)

    Pedersen, Jesper Grønnegaard; Gryning, Sven-Erik; Kelly, Mark C.

    2014-01-01

    A range of large-eddy simulations, with differing free atmosphere stratification and zero or slightly positive surface heat flux, is investigated to improve understanding of the neutral and near-neutral, inversion-capped, horizontally homogeneous, barotropic atmospheric boundary layer with emphasis...... on the upper region. We find that an adjustment time of at least 16 h is needed for the simulated flow to reach a quasi-steady state. The boundary layer continues to grow, but at a slow rate that changes little after 8 h of simulation time. A common feature of the neutral simulations is the development...... of a super-geostrophic jet near the top of the boundary layer. The analytical wind-shear models included do not account for such a jet, and the best agreement with simulated wind shear is seen in cases with weak stratification above the boundary layer. Increasing the surface heat flux decreases the magnitude...

  5. Neutral wetting brush layers for block copolymer thin films using homopolymer blends processed at high temperatures

    International Nuclear Information System (INIS)

    Ceresoli, M; Palermo, M; Ferrarese Lupi, F; Seguini, G; Perego, M; Zuccheri, G; Phadatare, S D; Antonioli, D; Gianotti, V; Sparnacci, K; Laus, M

    2015-01-01

    Binary homopolymer blends of two hydroxyl-terminated polystyrene (PS-OH) and polymethylmethacrylate (PMMA-OH) homopolymers (Mn ∼ 16000 g mol"−"1) were grafted on SiO_2 substrates by high-temperature (T > 150 °C), short-time (t < 600 s) thermal treatments. The resulting brush layer was tested to screen preferential interactions of the SiO_2 substrate with the different symmetric and asymmetric PS-b-PMMA block copolymers deposited on top of the grafted molecules. By properly adjusting the blend composition and the processing parameters, an efficient surface neutralization path was identified, enabling the formation, in the block copolymer film, of homogeneous textures of lamellae or cylinders perpendicularly oriented with respect to the substrate. A critical interplay between the phase segregation of the homopolymer blends and their grafting process on the SiO_2 was observed. In fact, the polar SiO_2 is preferential for the PMMA-rich phase that forms a homogeneous layer on the substrate, while the PS-rich phase is located at the polymer-air interface. During the thermal treatment, phase segregation and grafting proceed simultaneously. Complete wetting of the PS rich phase on the PMMA rich phase leads to the formation of a PS/PMMA bilayer. In this case, the progressive diffusion of PS chains toward the polymer-SiO_2 interface during the thermal treatment allows tuning of the brush layer composition. (paper)

  6. Neutralized wettability effect of superhydrophilic Cr-layered surface on pool boiling critical heat flux

    International Nuclear Information System (INIS)

    Son, Hong Hyun; Jeong, Ui Ju; Seo, Gwang Hyeok; Jeun, Gyoo Dong; Kim, Sung Joong

    2016-01-01

    The former method is deemed challenging due to longer development period and license issue. In this regard, FeCrAl, Cr, and SiC have been received positive attention as ATF coating materials because they are highly resistant to high temperature steam reaction causing massive hydrogen generation. In this study, Cr was selected as a target deposition material on the metal substrate because we found that Cr-layered surface becomes superhydrophilic, favorable to delaying the triggering of the critical heat flux (CHF). Thus in order to investigate the effect of Cr-layered superhydrophilic surfaces (under explored coating conditions) on pool boiling heat transfer, pool boiling experiment was conducted in the saturated deionized water under atmospheric pressure. As a physical vapor deposition (PVD) method, the DC magnetron sputtering technique was introduced to develop Cr-layered nanostructure. As a control variable of DC sputtering, substrate temperature was selected. Surface wettability and nanostructure were analyzed as major surface parameters on the CHF. We believe that highly dense micro/nano structure without nucleation cavities and inner pores neutralized the wettability effect on the CHF. Moreover, superhydrophilic surface with deficient cavity density rather hinders active nucleation. This emphasizes the importance of micro/nano structure surface for enhanced boiling heat transfer.

  7. Evaluating Models of The Neutral, Barotropic Planetary Boundary Layer using Integral Measures: Part I. Overview

    Science.gov (United States)

    Hess, G. D.; Garratt, J. R.

    Data for the cross-isobaric angle 0, the geostrophic drag coefficient Cg, and the functions A and B of Rossby number similarity theory, obtained from meteorological field experiments, are used to evaluate a range of models of the neutral, barotropic planetary boundary layer. The data give well-defined relationships for 0, Cg, and the integrated dissipation rate over the boundary layer, as a function of the surface Rossby number. Lettau's first-order closure mixing-length model gives an excellent fit to the data; other simple models give reasonable agreement. However more sophisticated models, e.g., higher-order closure, large-eddy simulation, direct numerical simulation and laboratory models, give poor fits to the data. The simplemodels have (at least) one free parameter in their turbulence closure that is matched toatmospheric observations; the more sophisticated models either base their closure onmore general flows or have no free closure parameters. It is suggested that all of theatmospheric experiments that we could locate violate the strict simplifying assumptionsof steady, homogeneous, neutral, barotropic flow required by the sophisticated models.The angle 0 is more sensitive to violations of the assumptions than is Cg.The behaviour of the data varies in three latitude regimes. In middle and high latitudes the observed values of A and B exhibit little latitudinal dependence; the best estimates are A = 1.3 and B = 4.4. In lower latitudes the neutral, barotropic Rossby number theory breaks down. The value of B increases towards the Equator; the determination of A is ambiguous - the trend can increase or decrease towards the Equator. Between approximately 5° and 30° latitude, the scatter in the data is thought to be primarily due to the inherent presence of baroclinicity. The presence of the trade-wind inversion, thermal instability and the horizontal component of the Earth's rotation ΩH also contribute.Marked changes in the values of A and B occur in the

  8. Coupled two-dimensional edge-plasma and neutral gas modelling of the DIII-D scrape-off-layer

    International Nuclear Information System (INIS)

    Maingi, R.; Gilligan, J.; Hankins, O.; Rensink, M.; Owen, L.; Klepper, C.; Mioduszewski, P.

    1992-01-01

    This paper reports that in order to do consistent scrape-off-layer plasma and neutral transport calculations, the 2-D fluid code, B2 has been externally coupled to the neutral transport code, DEGAS, for Dlll-D. The coupling procedure is similar to recent simulations done for TFTR, Tore Supra, and ClT. An averaged source approach is utilized to allow convergence between the two codes. Initial comparison of plasma quantities between the coupled code set and the B2 code alone shows that a colder, denser plasma may exist at the divertor targets than predicted by the B2 code with its internal recycling model

  9. Introduction to Sporadic Groups

    Directory of Open Access Journals (Sweden)

    Luis J. Boya

    2011-01-01

    Full Text Available This is an introduction to finite simple groups, in particular sporadic groups, intended for physicists. After a short review of group theory, we enumerate the 1+1+16=18 families of finite simple groups, as an introduction to the sporadic groups. These are described next, in three levels of increasing complexity, plus the six isolated ''pariah'' groups. The (old five Mathieu groups make up the first, smallest order level. The seven groups related to the Leech lattice, including the three Conway groups, constitute the second level. The third and highest level contains the Monster group M, plus seven other related groups. Next a brief mention is made of the remaining six pariah groups, thus completing the 5+7+8+6=26 sporadic groups. The review ends up with a brief discussion of a few of physical applications of finite groups in physics, including a couple of recent examples which use sporadic groups.

  10. The influence of blobs on neutral particles in the scrape-off layer

    DEFF Research Database (Denmark)

    Thrysøe, Alexander Simon; Tophøj, Laust Emil Hjerrild; Naulin, Volker

    2016-01-01

    and edge are investigated. Simulations suggest that neutrals originating from dissociation of hydrogen molecules only fuel in the outermost edge region of the plasma, whereas hot neutrals from charge exchange collisions penetrate deep into the bulk plasma. The results are recovered in a simplified 2D model....

  11. Plasma particle sources due to interactions with neutrals in a turbulent scrape-off layer of a toroidally confined plasma

    DEFF Research Database (Denmark)

    Thrysøe, Alexander Simon; Løiten, M.; Madsen, J.

    2018-01-01

    The conditions in the edge and scrape-off layer (SOL) of magnetically confined plasmas determine the overall performance of the device, and it is of great importance to study and understand the mechanics that drive transport in those regions. If a significant amount of neutral molecules and atoms...... is present in the edge and SOL regions, those will influence the plasma parameters and thus the plasma confinement. In this paper, it is displayed how neutrals, described by a fluid model, introduce source terms in a plasma drift-fluid model due to inelastic collisions. The resulting source terms...... are included in a four-field drift fluid model, and it is shown how an increasing neutral particle density in the edge and SOL regions influences the plasma particle transport across the lastclosed-flux-surface. It is found that an appropriate gas puffing rate allows for the edge density in the simulation...

  12. Plasma particle sources due to interactions with neutrals in a turbulent scrape-off layer of a toroidally confined plasma

    Science.gov (United States)

    Thrysøe, A. S.; Løiten, M.; Madsen, J.; Naulin, V.; Nielsen, A. H.; Rasmussen, J. Juul

    2018-03-01

    The conditions in the edge and scrape-off layer (SOL) of magnetically confined plasmas determine the overall performance of the device, and it is of great importance to study and understand the mechanics that drive transport in those regions. If a significant amount of neutral molecules and atoms is present in the edge and SOL regions, those will influence the plasma parameters and thus the plasma confinement. In this paper, it is displayed how neutrals, described by a fluid model, introduce source terms in a plasma drift-fluid model due to inelastic collisions. The resulting source terms are included in a four-field drift-fluid model, and it is shown how an increasing neutral particle density in the edge and SOL regions influences the plasma particle transport across the last-closed-flux-surface. It is found that an appropriate gas puffing rate allows for the edge density in the simulation to be self-consistently maintained due to ionization of neutrals in the confined region.

  13. Borax mediated layer-by-layer self-assembly of neutral poly(vinyl alcohol) and chitosan.

    Science.gov (United States)

    Manna, Uttam; Patil, Satish

    2009-07-09

    We report a multilayer film of poly(vinyl alcohol) (PVA)-borate complex and chitosan by using a layer-by-layer approach. PVA is an uncharged polymer, but hydroxyl functional groups of PVA can be cross-linked by using borax as a cross-linking agent. As a result electrostatic charges and intra- and interchain cross-links are introduced in the PVA chain and provide physically cross-linked networks. The PVA-borate was then deposited on a flat substrate as well as on colloidal particles with chitosan as an oppositely charged polyelectrolyte. Quartz crystal microbalance, scanning electron microscopy, and atomic force microscopy were used to follow the growth of thin film on flat substrate. Analogous experiments were performed on melamine formaldehyde colloidal particles (3-3.5 microm) to quantify the process for the preparation of hollow microcapsules. Removal of the core in 0.1 N HCl results in hollow microcapsules. Characterization of microcapsules by transmission electron microscopy revealed formation of stable microcapsules. Further, self-assembly of PVA-borate/chitosan was loaded with the anticancer drug doxorubicin, and release rates were determined at different pH values to highlight the drug delivery potential of this system.

  14. Formation mechanisms of neutral Fe layers in the thermosphere at Antarctica studied with a thermosphere-ionosphere Fe/Fe+ (TIFe) model

    Science.gov (United States)

    Chu, Xinzhao; Yu, Zhibin

    2017-06-01

    With a thermosphere-ionosphere Fe/Fe+ (TIFe) model developed from first principles at the University of Colorado, we present the first quantitative investigation of formation mechanisms of thermospheric Fe layers observed by lidar in Antarctica. These recently discovered neutral metal layers in the thermosphere between 100 and 200 km provide unique tracers for studies of fundamental processes in the space-atmosphere interaction region. The TIFe model formulates and expands the TIFe theory originally proposed by Chu et al. that the thermospheric Fe layers are produced through the neutralization of converged Fe+ layers. Through testing mechanisms and reproducing the 28 May 2011 event at McMurdo, we conceive the lifecycle of meteoric metals via deposition, transport, chemistry, and wave dynamics for thermospheric Fe layers with gravity wave signatures. While the meteor injection of iron species is negligible above 120 km, the polar electric field transports metallic ions Fe+ upward from their main deposition region into the E-F regions, providing the major source of Fe+ (and accordingly Fe) in the thermosphere. Atmospheric wave-induced vertical shears of vertical and horizontal winds converge Fe+ to form dense Fe+ layers. Direct electron-Fe+ recombination is the major channel to neutralize Fe+ layers to form Fe above 120 km. Fe layer shapes are determined by multiple factors of neutral winds, electric field, and aurora activity. Gravity-wave-induced vertical wind plays a key role in forming gravity-wave-shaped Fe layers. Aurora particle precipitation enhances Fe+ neutralization by increasing electron density while accelerating Fe loss via charge transfer with enhanced NO+ and O2+ densities.Plain Language SummaryThe discoveries of neutral metal layers reaching near 200 km in the thermosphere have significant scientific merit because such discoveries challenge the current understandings of upper atmospheric composition, chemistry, dynamics, electrodynamics, and

  15. Role of Neutral Lipids in Tear Fluid Lipid Layer: Coarse-Grained Simulation Study

    DEFF Research Database (Denmark)

    Telenius, J.; Koivuniemi, A.; Kulovesi, P.

    2012-01-01

    Tear fluid lipid layer (TFLL) residing at the air-water interface of tears has been recognized to play an important role in the development of dry eye syndrome. Yet, the composition, structure, and mechanical properties of TFLL are only partly known. Here, we report results of coarse...

  16. Evaluating Models Of The Neutral, Barotropic Planetary Boundary Layer Using Integral Measures: Part Ii. Modelling Observed Conditions

    Science.gov (United States)

    Hess, G. D.; Garratt, J. R.

    The steady-state, horizontally homogeneous, neutral, barotropiccase forms the foundation of our theoretical understanding of the planetary boundary layer (PBL).While simple analytical models and first-order closure models simulate atmospheric observationsof this case well, more sophisticated models, in general, do not. In this paperwe examine how well three higher-order closure models, E - - l, E - l, and LRR - l,which have been especially modified for PBL applications, perform in predicting the behaviour of thecross-isobaric angle 0, the geostrophic drag coefficient Cg, and the integral of the dissipationrate over the boundary layer, as a function of the surface Rossby number Ro. For comparison we alsoexamine the performance of three first-order closure mixing-length models, two proposed byA. K. Blackadar and one by H. H. Lettau, and the performance of the standard model forsecond-order closure and a modification of it designed to reduce the overprediction of turbulence inthe upper part of the boundary layer.

  17. Fabry-Perot interferometer measurements of neutral winds and F2 layer variations at the magnetic equator

    Directory of Open Access Journals (Sweden)

    P. Vila

    1998-06-01

    Full Text Available This letter presents some night-time observations of neutral wind variations at F2 layer levels near the dip equator, measured by the Fabry-Perot interferometer set up in 1994 at Korhogo (Ivory Coast, geographic latitude 9.25°N, longitude 355°E, dip latitude –2.5°. Our instrument uses the 630 nm (O1D line to determine radial Doppler velocities of the oxygen atoms between 200 and 400 km altitude. First results for November 1994 to March 1995 reveal persistent eastward flows, and frequent intervals of southward winds of larger than 50 ms–1 velocity. Compared with the simultaneous ionospheric patterns deduced from the three West African equatorial ionosondes at Korhogo, Ouagadougou (Burkina-Faso, dip latitude +1.5° and Dakar (Sénégal, dip latitude +5°, they illustrate various impacts of the thermospheric winds on F2 layer density: (1 on the mesoscale evolution (a few 103 km and a few 100 minutes scales and (2 on local fluctuations (hundreds of km and tens of minutes characteristic times. We report on these fluctuations and discuss the opportunity to improve the time-resolution of the Fabry-Perot interferometer at Korhogo.Key words. Ionosphere (Equatorial ionosphere; Ionosphere-atmosphere interaction · Meteorology and Atmospheric Dynamics (General circulation

  18. Universal dependences between turbulent and mean flow parameters instably and neutrally stratified Planetary Boundary Layers

    Directory of Open Access Journals (Sweden)

    I. N. Esau

    2006-01-01

    Full Text Available We consider the resistance law for the planetary boundary layer (PBL from the point of view of the similarity theory. In other words, we select the set of the PBL governing parameters and search for an optimal way to express through these parameters the geostrophic drag coefficient Cg=u* /Ug and the cross isobaric angle α (where u* is the friction velocity and Ug is the geostrophic wind speed. By this example, we demonstrate how to determine the 'parameter space' in the most convenient way, so that make independent the dimensionless numbers representing co-ordinates in the parameter space, and to avoid (or at least minimise artificial self-correlations caused by the appearance of the same factors (such as u* in the examined dimensionless combinations (e.g. in Cg=u* /Ug and in dimensionless numbers composed of the governing parameters. We also discuss the 'completeness' of the parameter space from the point of view of large-eddy simulation (LES modeller creating a database for a specific physical problem. As recognised recently, very large scatter of data in prior empirical dependencies of Cg and α on the surface Rossby number Ro=Ug| fz0|-1 (where z0 is the roughness length and the stratification characterised by µ was to a large extent caused by incompactness of the set of the governing parameters. The most important parameter overlooked in the traditional approach is the typical value of the Brunt-Väisälä frequency N in the free atmosphere (immediately above the PBL, which involves, besides Ro and µ, one more dimensionless number: µN=N/ | f |. Accordingly, we consider Cg and α as dependent on the three (rather then two basic dimensionless numbers (including µN using LES database DATABASE64. By these means we determine the form of the dependencies under consideration in the part of the parameter space representing typical atmospheric PBLs, and provide analytical expressions for Cg and α.

  19. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

    ... Home Health Conditions Sporadic hemiplegic migraine Sporadic hemiplegic migraine Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ...

  20. Effect of neutrals localized at torus inboard side on the impurity transport in edge stochastic magnetic field layer of LHD

    International Nuclear Information System (INIS)

    Morita, S.; Oishi, T.; Kobayashi, M.; Goto, M.; Kawamura, G.; Zhang, H.M.; Hunag, X.L.; Wang, E.H.

    2014-01-01

    Two-dimensional (2-D) distribution of impurity line emissions has been measured in Large Helical Device (LHD) based on the 2-D extreme ultraviolet (EUV) spectroscopy for studying the edge impurity transport in stochastic magnetic field layer with three-dimensional (3-D) structure. The impurity behavior in the vicinity of two X-points at inboard and outboard sides of torus becomes separately visible with the 2-D measurement. As a result, it is found that the carbon location changes from inboard to outboard X-points when the plasma axis is shifted from R_a_x=3.6 m to 3.75 m. A 3-D simulation with EMC3-EIRENE code agrees with the result at R_a_x=3.75 m but disagreed with the result at R_a_x=3.60 m. The discrepancy between the measurement and simulation at R_a_x=3.60 m is considerably reduced when the effect of neutral hydrogen localized at the inboard side is taken into account, which can modify the density gradient and friction force along the magnetic field. (author)

  1. From Near-Neutral to Strongly Stratified: Adequately Modelling the Clear-Sky Nocturnal Boundary Layer at Cabauw.

    Science.gov (United States)

    Baas, P; van de Wiel, B J H; van der Linden, S J A; Bosveld, F C

    2018-01-01

    The performance of an atmospheric single-column model (SCM) is studied systematically for stably-stratified conditions. To this end, 11 years (2005-2015) of daily SCM simulations were compared to observations from the Cabauw observatory, The Netherlands. Each individual clear-sky night was classified in terms of the ambient geostrophic wind speed with a [Formula: see text] bin-width. Nights with overcast conditions were filtered out by selecting only those nights with an average net radiation of less than [Formula: see text]. A similar procedure was applied to the observational dataset. A comparison of observed and modelled ensemble-averaged profiles of wind speed and potential temperature and time series of turbulent fluxes showed that the model represents the dynamics of the nocturnal boundary layer (NBL) at Cabauw very well for a broad range of mechanical forcing conditions. No obvious difference in model performance was found between near-neutral and strongly-stratified conditions. Furthermore, observed NBL regime transitions are represented in a natural way. The reference model version performs much better than a model version that applies excessive vertical mixing as is done in several (global) operational models. Model sensitivity runs showed that for weak-wind conditions the inversion strength depends much more on details of the land-atmosphere coupling than on the turbulent mixing. The presented results indicate that in principle the physical parametrizations of large-scale atmospheric models are sufficiently equipped for modelling stably-stratified conditions for a wide range of forcing conditions.

  2. From Near-Neutral to Strongly Stratified: Adequately Modelling the Clear-Sky Nocturnal Boundary Layer at Cabauw

    Science.gov (United States)

    Baas, P.; van de Wiel, B. J. H.; van der Linden, S. J. A.; Bosveld, F. C.

    2018-02-01

    The performance of an atmospheric single-column model (SCM) is studied systematically for stably-stratified conditions. To this end, 11 years (2005-2015) of daily SCM simulations were compared to observations from the Cabauw observatory, The Netherlands. Each individual clear-sky night was classified in terms of the ambient geostrophic wind speed with a 1 m s^{-1} bin-width. Nights with overcast conditions were filtered out by selecting only those nights with an average net radiation of less than - 30 W m^{-2}. A similar procedure was applied to the observational dataset. A comparison of observed and modelled ensemble-averaged profiles of wind speed and potential temperature and time series of turbulent fluxes showed that the model represents the dynamics of the nocturnal boundary layer (NBL) at Cabauw very well for a broad range of mechanical forcing conditions. No obvious difference in model performance was found between near-neutral and strongly-stratified conditions. Furthermore, observed NBL regime transitions are represented in a natural way. The reference model version performs much better than a model version that applies excessive vertical mixing as is done in several (global) operational models. Model sensitivity runs showed that for weak-wind conditions the inversion strength depends much more on details of the land-atmosphere coupling than on the turbulent mixing. The presented results indicate that in principle the physical parametrizations of large-scale atmospheric models are sufficiently equipped for modelling stably-stratified conditions for a wide range of forcing conditions.

  3. Pontine hyperperfusion in sporadic hyperekplexia.

    Science.gov (United States)

    Vetrugno, Roberto; Mascalchi, Mario; Vella, Alessandra; Della Nave, Riccardo; Guerrini, Laura; Vattimo, Angelo; del Giudice, Emanuele Miraglia; Plazzi, Giuseppe; D'Angelo, Roberto; Greco, Giovanni; Montagna, Pasquale

    2007-09-01

    To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia. Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes. Regional cerebral blood flow was investigated with single photon emission tomography (SPECT) during evoked startles and at rest. Both patients showed excessively large and non-habituating startle responses. In both patients, MRI showed impingement of the brainstem by the vertebrobasilar artery, lack of frontal or brainstem abnormalities on 1H-MRS and hyperperfusion in the dorsal pons and cingulate cortex, and superior frontal gyrus at SPECT during evoked startles. In our patients with hyperekplexia, the vertebrobasilar arteries were found to impinge on the brainstem. Neurophysiological findings and neurofunctional imaging of evoked startles indicated a pontine origin of the movement disorder modulated by activation in cortical, especially frontal, areas. The neurofunctional correlates of evoked startles in human sporadic hyperekplexia are similar to those observed for the startle circuit in animals.

  4. SEEK-2 (Sporadic-E Experiment over Kyushu 2 − Project Outline, and Significance

    Directory of Open Access Journals (Sweden)

    R. Pfaff

    2005-10-01

    Full Text Available SEEK-2 (Sporadic-E Experiment over Kyushu 2 is an observation campaign to study the spatial structure of the field-aligned irregularity (FAI and sporadic-E(Es-layer by means of two sounding rockets and a ground-based observation network with radars and optical instruments. The experiment was successfully conducted on 3 August 2002, with successive launches of two sounding rockets from the Uchinoura Space Center (USC of the Japan Aerospace Exploration Agency (JAXA. The timing of the experiment was carefully selected, while intense quasi-periodic (QP echoes were observed with two radars in Tanegashima. The main Es-layer, with its double-layered structure, was observed at altitudes of 103–105 km, the presence of which was well accounted for by the ion accumulation due to neutral-wind shear. Several minor peaks were detected in the electron density profiles at altitudes of up to 130 km. The intensity of the electric field was 5–10 mV/m and showed intense fluctuations below 110 km. Wave-like variation of the electric field was seen above 110 km. From radar experiments, we found that QP echoes appeared around 105 km, which agreed well with the main Es-layer height. The QP echoes propagated to the west-northwest, with frontal structures elongated from north-northeast to south-southwest. Radar observations conduced throughout the SEEK-2 period, on the other hand, showed that frontal structures of the QP echoes were most frequently propagated to the southeast. This result was consistent with the direction of gravity-wave propagation observed with the OH imager during the same period. The rocket beacon experiment with the Es-layers revealed the spatial structure of the plasma densities. On the basis of these results and those from SEEK-1 in 1996, we examined the structures of the nighttime mid-latitude E-region. We concluded that the QP echoes reflect the horizontal structures of the main Es-layers. The source of the structures was not clearly

  5. π-Conjugated organic-based devices with different layered structures produced by the neutral cluster beam deposition method and operating conduction mechanism

    International Nuclear Information System (INIS)

    Seo, Hoon-Seok; Oh, Jeong-Do; Kim, Dae-Kyu; Shin, Eun-Sol; Choi, Jong-Ho

    2012-01-01

    The authors report on the systematic characterization of structural effects of organic complementary inverters based on two π-conjugated organic molecules, pentacene and copper hexadecafluorophthalocyanine (F 16 CuPc). Three classes of inverters with different layered structures in top-contact configuration were produced using the neutral cluster beam deposition method. Their voltage transfer characteristics, gain curves and hysteresis behaviour were characterized with respect to their thickness. Class I inverters, with generic structures of single-layered, p-and n-type (200/180 Å) transistors, exhibited high gains of 12.8 ± 1.0 with sharp inversions. Their two constituent transistors, with hole and electron mobilities of 0.38 cm 2 V -1 s -1 and 7.0 × 10 -3 cm 2 V -1 s -1 , respectively, showed well-coupled carrier conduction during operation. The behaviour of class II and III inverters, with layered heterojunction structures, was independent of upper-layer thickness and did not show hysteresis. The better performances of class II inverters, which showed high gains of 14.4 ± 1.1, were rationalized partly in terms of decreased mobility differences between their constituent transistors. Heterojunction geometries can be applied to obtain high-performance, fast-switching inverters by avoiding direct exposure of the air-sensitive transistors to ambient conditions. The inverters' general operating conduction mechanism is also discussed.

  6. Sporadic Fatal Insomnia in an Adolescent

    Science.gov (United States)

    Blase, Jennifer L.; Cracco, Laura; Schonberger, Lawrence B.; Maddox, Ryan A.; Cohen, Yvonne; Cali, Ignazio

    2014-01-01

    The occurrence of sporadic prion disease among adolescents is extremely rare. A prion disease was confirmed in an adolescent with disease onset at 13 years of age. Genetic, neuropathologic, and biochemical analyses of the patient’s autopsy brain tissue were consistent with sporadic fatal insomnia, a type of sporadic prion disease. There was no evidence of an environmental source of infection, and this patient represents the youngest documented case of sporadic prion disease. Although rare, a prion disease diagnosis should not be discounted in adolescents exhibiting neurologic signs. Brain tissue testing is necessary for disease confirmation and is particularly beneficial in cases with an unusual clinical presentation. PMID:24488737

  7. Adult onset sporadic ataxias: a diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  8. Improved Large-Eddy Simulation Using a Stochastic Backscatter Model: Application to the Neutral Atmospheric Boundary Layer and Urban Street Canyon Flow

    Science.gov (United States)

    O'Neill, J. J.; Cai, X.; Kinnersley, R.

    2015-12-01

    Large-eddy simulation (LES) provides a powerful tool for developing our understanding of atmospheric boundary layer (ABL) dynamics, which in turn can be used to improve the parameterisations of simpler operational models. However, LES modelling is not without its own limitations - most notably, the need to parameterise the effects of all subgrid-scale (SGS) turbulence. Here, we employ a stochastic backscatter SGS model, which explicitly handles the effects of both forward and reverse energy transfer to/from the subgrid scales, to simulate the neutrally stratified ABL as well as flow within an idealised urban street canyon. In both cases, a clear improvement in LES output statistics is observed when compared with the performance of a SGS model that handles forward energy transfer only. In the neutral ABL case, the near-surface velocity profile is brought significantly closer towards its expected logarithmic form. In the street canyon case, the strength of the primary vortex that forms within the canyon is more accurately reproduced when compared to wind tunnel measurements. Our results indicate that grid-scale backscatter plays an important role in both these modelled situations.

  9. Large-scale coherent structures of suspended dust concentration in the neutral atmospheric surface layer: A large-eddy simulation study

    Science.gov (United States)

    Zhang, Yangyue; Hu, Ruifeng; Zheng, Xiaojing

    2018-04-01

    Dust particles can remain suspended in the atmospheric boundary layer, motions of which are primarily determined by turbulent diffusion and gravitational settling. Little is known about the spatial organizations of suspended dust concentration and how turbulent coherent motions contribute to the vertical transport of dust particles. Numerous studies in recent years have revealed that large- and very-large-scale motions in the logarithmic region of laboratory-scale turbulent boundary layers also exist in the high Reynolds number atmospheric boundary layer, but their influence on dust transport is still unclear. In this study, numerical simulations of dust transport in a neutral atmospheric boundary layer based on an Eulerian modeling approach and large-eddy simulation technique are performed to investigate the coherent structures of dust concentration. The instantaneous fields confirm the existence of very long meandering streaks of dust concentration, with alternating high- and low-concentration regions. A strong negative correlation between the streamwise velocity and concentration and a mild positive correlation between the vertical velocity and concentration are observed. The spatial length scales and inclination angles of concentration structures are determined, compared with their flow counterparts. The conditionally averaged fields vividly depict that high- and low-concentration events are accompanied by a pair of counter-rotating quasi-streamwise vortices, with a downwash inside the low-concentration region and an upwash inside the high-concentration region. Through the quadrant analysis, it is indicated that the vertical dust transport is closely related to the large-scale roll modes, and ejections in high-concentration regions are the major mechanisms for the upward motions of dust particles.

  10. Feasibility of correlating separation of ternary mixtures of neutral analytes via thin layer chromatography with supercritical fluid chromatography in support of green flash separations.

    Science.gov (United States)

    Ashraf-Khorassani, M; Yan, Q; Akin, A; Riley, F; Aurigemma, C; Taylor, L T

    2015-10-30

    Method development for normal phase flash liquid chromatography traditionally employs preliminary screening using thin layer chromatography (TLC) with conventional solvents on bare silica. Extension to green flash chromatography via correlation of TLC migration results, with conventional polar/nonpolar liquid mixtures, and packed column supercritical fluid chromatography (SFC) retention times, via gradient elution on bare silica with a suite of carbon dioxide mobile phase modifiers, is reported. Feasibility of TLC/SFC correlation is individually described for eight ternary mixtures for a total of 24 neutral analytes. The experimental criteria for TLC/SFC correlation was assumed to be as follows: SFC/UV/MS retention (tR) increases among each of the three resolved mixture components; while, TLC migration (Rf) decreases among the same resolved mixture components. Successful correlation of TLC to SFC was observed for most of the polar organic solvents tested, with the best results observed via SFC on bare silica with methanol as the CO2 modifier and TLC on bare silica with a methanol/dichloromethane mixture. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Sporadic simple groups and quotient singularities

    International Nuclear Information System (INIS)

    Cheltsov, I A; Shramov, C A

    2013-01-01

    We show that if a faithful irreducible representation of a central extension of a sporadic simple group with centre contained in the commutator subgroup gives rise to an exceptional (resp. weakly exceptional but not exceptional) quotient singularity, then that simple group is the Hall-Janko group (resp. the Suzuki group)

  12. Sporadic colorectal polyps and mismatch repair proteins

    Directory of Open Access Journals (Sweden)

    Mahsa Molaei

    2011-01-01

    Full Text Available Background: Colorectal cancers often arise from benign polyps. Adenomatous polyps and serrated polyps progress step by step to adenocarcinoma and change into malignant cancers. Genetic and epigenetic changes have correlation with specific stages of polyp-adenocarcinoma progression and colorectal cancer histopathological changes. Aims: In this study we used immunohistochemistry (IHC staining in sporadic colorectal polyps to assay functional status of MLH1, MSH2, MSH6, and PMS2 proteins, to track genetic/epigenetic roles of this issue in our patients. Materials and Methods: In this cross-sectional study we assessed all patients who were admitted with sporadic colorectal polyps and underwent polypectomy in endoscopy department during 2004-2008. Result: IHC results were abnormal in 6.8% cases for MLH1, in 4.5% cases for MSH2, in 3% for MSH6, and in 4.8% for PMS2. In all cases with abnormal PMS2, MLH1 was also reported as abnormal. Same results were reported for abnormal MSH2, which is accompanied with abnormal MSH6 in all cases (P values < 0.001. There is no significant difference between IHC staining results, gender, dysplasia grade, adenomatous type, and invasion. On the other hand, there was significant difference between IHC staining results, polyp location, and mean age of patients. The same significant difference was between adenomatous polyps and serrated adenoma polyps by MLH1 and PMS2 (P values < 0.05. Conclusion: According to our findings, maybe MMR dysfunction is the cause of sporadic colorectal polyps in younger age and its increasing risk of dysplasia progression and malignancy progression is only in serrated adenoma. Sporadic polyps in left colon had a higher risk to progress to malignancies, and abnormal IHC staining for MLH1 and PMS2 in serrated polyps is much more than in other adenomatous polyps.

  13. Inheritable and sporadic non-autoimmune hyperthyroidism.

    Science.gov (United States)

    Ferraz, Carolina; Paschke, Ralf

    2017-03-01

    Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH). These three conditions: autonomic adenoma, FNAH and PSNAH constitute the inheritable and sporadic non-autoimmune hyperthyroidism. Particularities in epidemiology, etiology, molecular and clinical aspects of these three entities will be discussed in this review in order to guide to an accurate diagnosis allowing among others genetic counseling and presymptomatic diagnosis for the affected families. The optimal treatment based on the right diagnosis will avoid consequences of a persistent or relapsing hyperthyroidism. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  14. Neutral currents

    International Nuclear Information System (INIS)

    Paschos, E.A.

    1977-01-01

    It is stated that over the past few years considerable progress has been made in the field of weak interactions. The existence of neutral currents involving leptons and hadrons has been established and some of the questions concerning their detailed structure have been answered. This imposes constraints on the gauge theories and has eliminated large classes of models. New questions have also been raised, one of which concerns the conservation laws obeyed by neutral currents. The wide range of investigations is impressive and is expected to continue with new results from particle, nuclear, and atomic physics. Headings include - various aspects of a gauge theory (choice of group, the symmetry breaking scheme, representation assignments for fermion fields); space-time structure; isospin structure; leptonic neutral currents; and atomic experiments. (U.K.)

  15. Neutral currents

    International Nuclear Information System (INIS)

    Aubert, B.

    1994-11-01

    The evidence for the existence of weak neutral current has been a very controverted topics in the early 1970's, as well as the muon did in the 1930's. The history is very rich considering the evolution of the experimental techniques in high energy particle physics. The history of the discovery and the study of weak neutral current is reviewed. Later the quest of the intermediate vector boson continues with the decision of the community to build a large proton antiproton collider. (K.A.). 14 refs., 1 fig

  16. Comparison Between Sporadic and Misdiagnosed Sporadic Creutzfeldt-Jakob Disease: A Report of Two Cases.

    Science.gov (United States)

    Zhao, Xiongfei; Yu, Yingxin; Zhao, Zhiru; Xu, Jiaping

    2015-06-01

    Definite accurate diagnosis for Creutzfeldt-Jakob disease (CJD) depends on neuropathologic examination of brain biopsy or autopsy. However, transmissible nature makes the invasive examination dangerous. This study was set to determine that the clinical features are for the diagnosis of CJD through a comparison study. We compared clinical features of two cases with initial diagnosis of sporadic CJD. One case was finally diagnosed as definite sporadic CJD. According to World Health Organization diagnosis criteria, the other one, which had been diagnosed as probable sporadic CJD, was confirmed as limbic encephalitis after long-term follow-up. Compared with the case of definite sporadic CJD, the misdiagnosed case did not present typical electroencephalogram (EEG) and diffusion-weighted in magnetic resonance images (DWI) of CJD. However, cerebrospinal fluid in the misdiagnosed patient showed 14-3-3 protein positivity. The patient conditions improved after treatment. Through this case comparison, we conclude that EEG and DWI are necessary for accurate diagnosis of sporadic CJD. Further, long-term follow-up is crucial to diagnosis and treatment of CJD.

  17. Strong Sporadic E Occurrence Detected by Ground-Based GNSS

    Science.gov (United States)

    Sun, Wenjie; Ning, Baiqi; Yue, Xinan; Li, Guozhu; Hu, Lianhuan; Chang, Shoumin; Lan, Jiaping; Zhu, Zhengping; Zhao, Biqiang; Lin, Jian

    2018-04-01

    The ionospheric sporadic E (Es) layer has significant impact on radio wave propagation. The traditional techniques employed for Es layer observation, for example, ionosondes, are not dense enough to resolve the morphology and dynamics of Es layer in spatial distribution. The ground-based Global Navigation Satellite Systems (GNSS) technique is expected to shed light on the understanding of regional strong Es occurrence, owing to the facts that the critical frequency (foEs) of strong Es structure is usually high enough to cause pulse-like disturbances in GNSS total electron content (TEC), and a large number of GNSS receivers have been deployed all over the world. Based on the Chinese ground-based GNSS networks, including the Crustal Movement Observation Network of China and the Beidou Ionospheric Observation Network, a large-scale strong Es event was observed in the middle latitude of China. The strong Es shown as a band-like structure in the southwest-northeast direction extended more than 1,000 km. By making a comparative analysis of Es occurrences identified from the simultaneous observations by ionosondes and GNSS TEC receivers over China middle latitude statistically, we found that GNSS TEC can be well employed to observe strong Es occurrence with a threshold value of foEs, 14 MHz.

  18. Sporadic-E associated with the Leonid meteor shower event of November 1998 over low and equatorial latitudes

    Directory of Open Access Journals (Sweden)

    H. Chandra

    2001-01-01

    Full Text Available Rapid radio soundings were made over Ahmedabad, a low latitude station during the period 16–20 November 1998 to study the sporadic-E layer associated with the Leonid shower activity using the KEL Aerospace digital ionosonde. Hourly ionograms for the period 11 November to 24 November were also examined during the years from 1994 to 1998. A distinct increase in sporadic-E layer occurrence is noticed on 17, 18 and 19 November from 1996 to 1998. The diurnal variations  of  f0Es and fbEs also show significantly enhanced values for the morning hours of 18 and 19 November 1998. The ionograms clearly show strong sporadic-E reflections at times of peak shower activity with multiple traces in the altitude range of 100–140 km in few ionograms. Sporadic-E layers with multiple structures in altitude are also seen in some of the ionograms (quarter hourly at Thumba, situated near the magnetic equator. Few of ionograms recorded at Kodaikanal, another equatorial station, also show sporadic- E reflections in spite of the transmitter power being significantly lower. These new results highlighting the effect of intense meteor showers in the equatorial and low latitude E-region are presented.Key words. Ionosphere (equatorial ionosphere – Radio science (ionospheric physics

  19. Sporadic-E associated with the Leonid meteor shower event of November 1998 over low and equatorial latitudes

    Directory of Open Access Journals (Sweden)

    H. Chandra

    Full Text Available Rapid radio soundings were made over Ahmedabad, a low latitude station during the period 16–20 November 1998 to study the sporadic-E layer associated with the Leonid shower activity using the KEL Aerospace digital ionosonde. Hourly ionograms for the period 11 November to 24 November were also examined during the years from 1994 to 1998. A distinct increase in sporadic-E layer occurrence is noticed on 17, 18 and 19 November from 1996 to 1998. The diurnal variations 
    of  f0Es and fbEs also show significantly enhanced values for the morning hours of 18 and 19 November 1998. The ionograms clearly show strong sporadic-E reflections at times of peak shower activity with multiple traces in the altitude range of 100–140 km in few ionograms. Sporadic-E layers with multiple structures in altitude are also seen in some of the ionograms (quarter hourly at Thumba, situated near the magnetic equator. Few of ionograms recorded at Kodaikanal, another equatorial station, also show sporadic- E reflections in spite of the transmitter power being significantly lower. These new results highlighting the effect of intense meteor showers in the equatorial and low latitude E-region are presented.

    Key words. Ionosphere (equatorial ionosphere – Radio science (ionospheric physics

  20. Early Detection of Sporadic Pancreatic Cancer

    Science.gov (United States)

    Kenner, Barbara J.; Chari, Suresh T.; Cleeter, Deborah F.; Go, Vay Liang W.

    2015-01-01

    Abstract Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer. PMID:25938853

  1. Early Detection of Sporadic Pancreatic Cancer

    Science.gov (United States)

    Chari, Suresh T.; Kelly, Kimberly; Hollingsworth, Michael A.; Thayer, Sarah P.; Ahlquist, David A.; Andersen, Dana K.; Batra, Surinder K.; Brentnall, Teresa A.; Canto, Marcia; Cleeter, Deborah F.; Firpo, Matthew A.; Gambhir, Sanjiv Sam; Go, Vay Liang W.; Hines, O. Joe; Kenner, Barbara J.; Klimstra, David S.; Lerch, Markus M.; Levy, Michael J.; Maitra, Anirban; Mulvihill, Sean J.; Petersen, Gloria M.; Rhim, Andrew D.; Simeone, Diane M.; Srivastava, Sudhir; Tanaka, Masao; Vinik, Aaron I.; Wong, David

    2015-01-01

    Abstract Pancreatic cancer (PC) is estimated to become the second leading cause of cancer death in the United States by 2020. Early detection is the key to improving survival in PC. Addressing this urgent need, the Kenner Family Research Fund conducted the inaugural Early Detection of Sporadic Pancreatic Cancer Summit Conference in 2014 in conjunction with the 45th Anniversary Meeting of the American Pancreatic Association and Japan Pancreas Society. This seminal convening of international representatives from science, practice, and clinical research was designed to facilitate challenging interdisciplinary conversations to generate innovative ideas leading to the creation of a defined collaborative strategic pathway for the future of the field. An in-depth summary of current efforts in the field, analysis of gaps in specific areas of expertise, and challenges that exist in early detection is presented within distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. In addition, an overview of efforts in familial PC is presented in an addendum to this article. It is clear from the summit deliberations that only strategically designed collaboration among investigators, institutions, and funders will lead to significant progress in early detection of sporadic PC. PMID:25931254

  2. Concentration-elastic-stress instabilities in the distribution of ions and neutral particles in the insulator layer at the semiconductor surface

    International Nuclear Information System (INIS)

    Gol'dman, E. I.

    2006-01-01

    Mobile impurities in the form of ions and neutral associations are present in the insulator films that isolate the semiconductor from the metal electrode. If temperatures and the polarizing electric field are sufficiently high, impurities concentrate at the insulator-semiconductor interface where they exchange electrons with the semiconductor. It is shown that the pairwise interaction of particles via the field of elastic stresses caused by the concentration-related expansion of the insulator can give rise to an instability in the impurity distribution that is uniform over the contact. The stationary small-scale ordering of the particles over the contact of the insulator with the semiconductor arises in the solution of point defects, which is accompanied by annular flows of the particles

  3. The Zodiacal Cloud Model applied to the Martian atmosphere. Diurnal variations in meteoric ion layers

    Science.gov (United States)

    Carrillo-Sánchez, J. D.; Plane, J. M. C.; Withers, P.; Fallows, K.; Nesvorny, D.; Pokorný, P.

    2016-12-01

    Sporadic metal layers have been detected in the Martian atmosphere by radio occultation measurements using the Mars Express Orbiter and Mars Global Surveyor spacecraft. More recently, metallic ion layers produced by the meteor storm event following the close encounter between Comet Siding Spring (C/2013 A1) and Mars were identified by the Imaging UltraViolet Spectrograph (IUVS) and the Neutral Gas and Ion Mass Spectrometer (NGIMS) on the Mars Atmosphere and Volatile EvolutioN (MAVEN) spacecraft. Work is now in progress to detect the background metal layers produced by the influx of sporadic meteors. In this study we predict the likely appearance of these layers. The Zodiacal Dust Cloud (ZDC) model for particle populations released by asteroids (AST), and dust grains from Jupiter Family Comets (JFCs) and Halley-Type Comets (HTCs) has been combined with a Monte Carlo sampling method and the Chemical ABlation MODel (CABMOD) to predict the ablation rates of Na, K, Fe, Si, Mg, Ca and Al above 40 km altitude in the Martian atmosphere. CABMOD considers the standard treatment of meteor physics, including the balance of frictional heating by radiative losses and the absorption of heat energy through temperature increases, melting phase transitions and vaporization, as well as sputtering by inelastic collisions with the air molecules. The vertical injection profiles are input into the Leeds 1-D Mars atmospheric model which includes photo-ionization, and gas-phase ion-molecule and neutral chemistry, in order to explore the evolution of the resulting metallic ions and atoms. We conclude that the dominant contributor in the Martian's atmosphere is the JFCs over other sources. Finally, we explore the changes of the neutral and ionized Na, Mg and Fe layers over a diurnal cycle.

  4. Sporadic wind wave horse-shoe patterns

    Directory of Open Access Journals (Sweden)

    S. Yu. Annenkov

    1999-01-01

    Full Text Available The work considers three-dimensional crescent-shaped patterns often seen on water surface in natural basins and observed in wave tank experiments. The most common of these 'horse-shoe-like' patterns appear to be sporadic, i.e., emerging and disappearing spontaneously even under steady wind conditions. The paper suggests a qualitative model of these structures aimed at explaining their sporadic nature, physical mechanisms of their selection and their specific asymmetric form. First, the phenomenon of sporadic horse-shoe patterns is studied numerically using the novel algorithm of water waves simulation recently developed by the authors (Annenkov and Shrira, 1999. The simulations show that a steep gravity wave embedded into widespectrum primordial noise and subjected to small nonconservative effects typically follows the simple evolution scenario: most of the time the system can be considered as consisting of a basic wave and a single pair of oblique satellites, although the choice of this pair tends to be different at different instants. Despite the effective low-dimensionality of the multimodal system dynamics at relatively sho ' rt time spans, the role of small satellites is important: in particular, they enlarge the maxima of the developed satellites. The presence of Benjamin-Feir satellites appears to be of no qualitative importance at the timescales under consideration. The selection mechanism has been linked to the quartic resonant interactions among the oblique satellites lying in the domain of five-wave (McLean's class II instability of the basic wave: the satellites tend to push each other out of the resonance zone due to the frequency shifts caused by the quartic interactions. Since the instability domain is narrow (of order of cube of the basic wave steepness, eventually in a generic situation only a single pair survives and attains considerable amplitude. The specific front asymmetry is found to result from the interplay of quartic

  5. MRI of sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Kong, A.; Vliet, A. Van der.

    2008-01-01

    Full text: The key MRI findings in five cases of sporadic Creutzfeldt-Jakob disease (CJD) are illustrated with four 'definite' and one 'probable' according to World Health Organization criteria. Close attention to fluid-attenuation inversion recovery and diffusion-weighted imaging sequences are important for diagnosis, noting especially restricted diffusion in cortical and deep grey matter. Our study and those of others show predominant cortical, caudate and thalamic involvement. This pattern is highly sensitive and specific for the diagnosis. Fluid-attenuation inversion recovery and diffusion-weighted imaging signal abnormality becomes progressively more extensive and bilateral as disease progresses, but may become less pronounced in end-stage disease because of atrophy.

  6. The lunar tide in sporadic E

    Directory of Open Access Journals (Sweden)

    R. J. Stening

    1999-10-01

    Full Text Available It seems that the wind shear theory is accepted for the explanation of sporadic E at mid and low latitudes. Some examples from Arecibo are displayed to show this. The effect of lunar tides should then modify the wind-shear theory in a manner that yields the observed features of the lunar tide in the critical frequency foEs and the height h'Es of the sporadic E. This is shown to imply that the phase of the lunar tide in h'Es should be the same as the phase of the lunar tide in the eastward wind and that the phase of the lunar tide in foEs is three hours later. Hourly values of foEs, f bEs (the blanketing critical frequency and h'Es from several observatories are analysed for the lunar semidiurnal tide. It is found that the phase of the tide in foEs is often about 3 hours later than for h'Es in agreement with the theory. Seasonal variations in the tide are also examined with the statistically most significant results (largest amplitudes usually occurring in summer. After reviewing the many difficulties associated with determining the lunar tide in Es, both experimentally and theoretically, the analysed phase results are compared with what might be expected from Hagan's global scale wave model. Agreement is only fair (a success rate of 69% among the cases examined but probably as good as might be expected.Key words. Ionosphere (ionosphere – atmosphere interactions – ionospheric irregularities, Meteorology and atmosphere dynamics (waves and tides

  7. Studies of sporadic E (Es) associated with the main ionospheric trough

    International Nuclear Information System (INIS)

    Rodger, A.S.; Morrell, C.; Dudeney, J.R.

    1983-01-01

    Sporadic E, or E(s) events under the main F region trough have been confirmed on the basis of ionograms from a vertical incidence ionosonde at Halley Bay, Antarctica. Analyses indicate that E(s) is frequently observable under both the equatorward and the poleward edges of the trough, as well as poleward of it. Before magnetic midnight, E(s) layers whose semithickness resembles those of the normal E layer are common, in contrast to layers seen after magnetic midnight which show the characteristics of thin E(s) layers. A possible explanation of the observed change in the E(s) layer characteristics at magnetic midnight is related to differences in the type and spectra of the precipitating particles. It is shown that the redistribution of ionization by the convection electric field may be important. 40 references

  8. Dietary factors and microsatellite instability in sporadic colon carcinomas

    NARCIS (Netherlands)

    Diergaarde, B.; Braam, H.; Muijen, van G.N.P.; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

    2003-01-01

    Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

  9. Dietary factors and microsatellite instability in sporadic colon carcinomas.

    NARCIS (Netherlands)

    Diergaarde, B.; Braam, H.; Muijen, G.N.P. van; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

    2003-01-01

    Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

  10. Update on Sporadic Colorectal Cancer Genetics.

    Science.gov (United States)

    Hardiman, Karin M

    2018-05-01

    Our understanding of the genetics of colorectal cancer has changed dramatically over recent years. Colorectal cancer can be classified in multiple different ways. Along with the advent of whole-exome sequencing, we have gained an understanding of the scale of the genetic changes found in sporadic colorectal cancer. We now know that there are multiple pathways that are commonly involved in the evolution of colorectal cancer including Wnt/β-catenin, RAS, EGFR, and PIK3 kinase. Another recent leap in our understanding of colorectal cancer genetics is the recognition that many, if not all tumors, are actually genetically heterogeneous within individual tumors and also between tumors. Recent research has revealed the prognostic and possibly therapeutic implications of various specific mutations, including specific mutations in BRAF and KRAS . There is increasing interest in the use of mutation testing for screening and surveillance through stool and circulating DNA testing. Recent advances in translational research in colorectal cancer genetics are dramatically changing our understanding of colorectal cancer and will likely change therapy and surveillance in the near future.

  11. Sporadic frame dropping impact on quality perception

    Science.gov (United States)

    Pastrana-Vidal, Ricardo R.; Gicquel, Jean Charles; Colomes, Catherine; Cherifi, Hocine

    2004-06-01

    Over the past few years there has been an increasing interest in real time video services over packet networks. When considering quality, it is essential to quantify user perception of the received sequence. Severe motion discontinuities are one of the most common degradations in video streaming. The end-user perceives a jerky motion when the discontinuities are uniformly distributed over time and an instantaneous fluidity break is perceived when the motion loss is isolated or irregularly distributed. Bit rate adaptation techniques, transmission errors in the packet networks or restitution strategy could be the origin of this perceived jerkiness. In this paper we present a psychovisual experiment performed to quantify the effect of sporadically dropped pictures on the overall perceived quality. First, the perceptual detection thresholds of generated temporal discontinuities were measured. Then, the quality function was estimated in relation to a single frame dropping for different durations. Finally, a set of tests was performed to quantify the effect of several impairments distributed over time. We have found that the detection thresholds are content, duration and motion dependent. The assessment results show how quality is impaired by a single burst of dropped frames in a 10 sec sequence. The effect of several bursts of discarded frames, irregularly distributed over the time is also discussed.

  12. The evolving genetic risk for sporadic ALS.

    Science.gov (United States)

    Gibson, Summer B; Downie, Jonathan M; Tsetsou, Spyridoula; Feusier, Julie E; Figueroa, Karla P; Bromberg, Mark B; Jorde, Lynn B; Pulst, Stefan M

    2017-07-18

    To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM. The percentage of patients with SALS with a rare and deleterious variant or repeat expansion in an ALS-associated gene was calculated. An odds ratio analysis was performed comparing the burden of ALS-associated genes in patients with SALS vs 324 normal controls. Nineteen rare nonsynonymous variants in an ALS-associated gene, 2 of which were found in 2 different individuals, were identified in 21 patients with SALS. Further, 5 deleterious C9orf72 and 2 ATXN2 repeat expansions were identified. A total of 17.2% of patients with SALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene. The genetic burden of ALS-associated genes in patients with SALS as predicted by MetaSVM was significantly higher than in normal controls. Previous analyses have identified SALS-predisposing variants only in terms of their rarity in normal control populations. By incorporating variant pathogenicity as well as variant frequency, we demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates. © 2017 American Academy of Neurology.

  13. Near Earth space sporadic radio emission busts occurring during sunrise

    Science.gov (United States)

    Dudnik, A. V.; Zaljubovsky, I. I.; Kartashev, V. M.; Lasarev, A. V.; Shmatko, E. S.

    1985-01-01

    During the period of low solar activity at sunrise the effect of sporadic high frequency near Earth space radio emission was experimentally discovered at middle latitudes. The possible mechanism of its origin is discussed.

  14. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...

  15. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

    2009-01-01

    Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

  16. Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

    Directory of Open Access Journals (Sweden)

    Michel Guipponi

    Full Text Available Schizophrenia (SCZ is a severe, debilitating mental illness which has a significant genetic component. The identification of genetic factors related to SCZ has been challenging and these factors remain largely unknown. To evaluate the contribution of de novo variants (DNVs to SCZ, we sequenced the exomes of 53 individuals with sporadic SCZ and of their non-affected parents. We identified 49 DNVs, 18 of which were predicted to alter gene function, including 13 damaging missense mutations, 2 conserved splice site mutations, 2 nonsense mutations, and 1 frameshift deletion. The average number of exonic DNV per proband was 0.88, which corresponds to an exonic point mutation rate of 1.7×10(-8 per nucleotide per generation. The non-synonymous-to-synonymous mutation ratio of 2.06 did not differ from neutral expectations. Overall, this study provides a list of 18 putative candidate genes for sporadic SCZ, and when combined with the results of similar reports, identifies a second proband carrying a non-synonymous DNV in the RGS12 gene.

  17. Solar-diurnal variations of Cosmic rays (CR), connected with the passage of the Earth through the Neutral Layer of the Interplanetary Magnetic Fields (IMF) and the earthquake problem

    International Nuclear Information System (INIS)

    Khazaradze, N; Vanishvili, G; Bakradze, T; Bazerashvili, E; Kordzadze, L; Elizbarashvili, M

    2013-01-01

    Key explanation on effect of Fundamental Law of Momentum Conservation is given on the basis of Cosmo-Physical processes, which can be connected with all kinds of recently known geo-effective phenomena. Many works have been devoted to searches of extraterrestrial sources of generation of earthquake initiation preconditions. There is a direct indication on the fact in these works that all kinds of geo-active fluxes of plasma, which goes ahead of strong geomagnetic storms, concomitant to the earthquakes, may be served as favourable conditions for earthquake appearance. If in one group of works, the increase of seismic activity during geo-active solar flare is reported, then in the other group of works, there is the direct indication on the fact, that it is necessary to study the mechanism of generation of electro-magnetic emanation in the seismically active regions of Earth. Certain strong destructive earthquakes are putting in touch by some authors with the outburst of cosmic rays in distant regions of Universe during stellar explosion of supernovae. It's impossible to avoid our attention from announcement of 100% increase of hard component of cosmic radiation above Yerevan 30 minutes ahead of 1988 Spitak Earthquake. And finally, the data on article, in which is shown that about 75% of earthquakes with magnitude M≥6 takes place during traverse of neutral layer of Interplanetary Magnetic Field by the Earth, in the presence of good correlation with 11-years cycle of Solar Activity. Above mentioned geo-effective phenomena, with an increasable amount, can be reviewed in frame of the Law of Momentum Conservation, if we take into account the peculiarities of its development for a given specific cases.

  18. Neuroendocrine Differentiation in Sporadic CRC and Hereditary Nonpolyosis Colorectal Cancer

    Directory of Open Access Journals (Sweden)

    M. H. Sun

    2004-01-01

    Full Text Available Extent neuroendocrine differentiation can be encountered in many human neoplasm derived from different organs and systems using immunohistochemistry and ultrastructural techniques. The tumor cells' behaviors resemble those of neurons and neuroendocrine cells. The presence of neuroendocrine differentiation reputedly appears to be associated with a poorer prognosis than the adenocarcinoma counterparts in sporadic human neoplasm. In this review the neuroendocrine carcinoma and the adenocarcinoma with neuroendocrine differentiation of colon and rectum both in sporadic colorectal carcinoma and the hereditary nonpolyposis colorectal cancer, the relationship of neuroendocrine differentiation and some possible molecular pathways in tumorogenesis of colorectal cancer will be discussed. Possible treatment strategy will also be addressed.

  19. Neutral Buoyancy Laboratory (NBL)

    Data.gov (United States)

    Federal Laboratory Consortium — The Neutral Buoyancy Laboratory (NBL) is an astronaut training facility and neutral buoyancy pool operated by NASA and located at the Sonny Carter Training Facility,...

  20. Sporadic plasma heating in the lower chromosphere

    Science.gov (United States)

    Zaitsev, V. V.

    2014-12-01

    It is usually assumed that heating of the chromosphere is caused by the precipitation of energetic particles (electrons and protons) accelerated in the solar corona, namely, at flare arc tops. On the other hand, recently obtained observational data show that the chromospheric footpoints of compact magnetic loops are directly heated to ≥106 K, and hot plasma erupted from the footpoints of such loops. The plasma mechanism of the THz emission of flares may also indicate that deep chromospheric layers with densities up to n ≈ 1015 cm-3 can be heated to about 105-106 K. It has been shown that electrons can be accelerated and plasma can be heated in the lower chromosphere when the Rayleigh-Taylor instability develops at magnetic loop chromo-spheric footpoints. This instability results in the penetration of the upper chromospheric plasma into a loop and induces an electric field that effectively accelerates electrons and leads to in situ heating of the chromo-sphere.

  1. Impaired proteasome function in sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Kabashi, Edor; Agar, Jeffrey N; Strong, Michael J; Durham, Heather D

    2012-06-01

    Abstract The ubiquitin-proteasome system, important for maintaining protein quality control, is compromised in experimental models of familial ALS. The objective of this study was to determine if proteasome function is impaired in sporadic ALS. Proteasomal activities and subunit composition were evaluated in homogenates of spinal cord samples obtained at autopsy from sporadic ALS and non-neurological control cases, compared to cerebellum as a clinically spared tissue. The level of 20S α structural proteasome subunits was assessed in motor neurons by immunohistochemistry. Catalysis of peptide substrates of the three major proteasomal activities was substantially reduced in ALS thoracic spinal cord, but not in cerebellum, accompanied by alterations in the constitutive proteasome machinery. Chymotrypsin-like activity was decreased to 60% and 65% of control in ventral and dorsal spinal cord, respectively, concomitant with reduction in the β5 subunit with this catalytic activity. Caspase- and trypsin-like activities were reduced to a similar extent (46% - 68% of control). Proteasome levels, although generally maintained, appeared reduced specifically in motor neurons by immunolabelling. In conclusion, there are commonalities of findings in sporadic ALS patients and presymptomatic SOD1-G93A transgenic mice and these implicate inadequate proteasome function in the pathogenesis of both familial and sporadic ALS.

  2. Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

    Directory of Open Access Journals (Sweden)

    Hafiz Rizwan Talib Hashmi

    2017-06-01

    Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

  3. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...... and excluded 61.5% of the tumors from MMR testing. This clinicopathologic index thus successfully selects MMR-defective colon cancers. Udgivelsesdato: 2008-Feb...

  4. Brain sonography in African infants with complicated sporadic ...

    African Journals Online (AJOL)

    Background: To determine the structural findings in brain sonography of African infants with complicated sporadic bacterial meningitis. Materials and Methods: Retrospective assessment of medical records of patients who underwent brain sonography on account of complicated bacterial meningitis. The brain sonography ...

  5. Physical function and muscle strength in sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

    2017-01-01

    INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...

  6. [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

    NARCIS (Netherlands)

    Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

    2005-01-01

    This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

  7. Genetic overlap between apparently sporadic motor neuron diseases

    NARCIS (Netherlands)

    van Blitterswijk, Marka; Vlam, Lotte; van Es, Michael A.; van der Pol, W.-Ludo; Hennekam, Eric A. M.; Dooijes, Dennis; Schelhaas, Helenius J.; van der Kooi, Anneke J.; de Visser, Marianne; Veldink, Jan H.; van den Berg, Leonard H.

    2012-01-01

    Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and

  8. Prevalence of Abnormal Cervical Smears from Sporadic Screening ...

    African Journals Online (AJOL)

    The aim of the study was to find the prevalence of abnormal smears in an unscreened population of sexually active women attending a gynaecological clinic. “Pap” smears were taken sporadically for cytological examination from sexually active women attending gynaecological clinics at the Federal Medical Centre Gombe.

  9. Comparing Sporadic and Outbreak-associated Foodborne Illness

    Centers for Disease Control (CDC) Podcasts

    2016-11-04

    Dr. Eric Ebel, a veterinarian and risk analyst with USDA’s Food Safety and Inspection Service, discusses his article on sporadic and outbreak-associated cases of foodborne illness.  Created: 11/4/2016 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/4/2016.

  10. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

    2009-01-01

    textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

  11. Study of neutral particles

    International Nuclear Information System (INIS)

    Bartel, W.; Bulos, F.; Eisner, A.

    1975-01-01

    The range of physics problems for which a detector emphasizing neutrals is most suitable is discussed. The primary goals are the all neutrals cross section, sigma/sub o/ (e + e - → neutrals), the characterization of the neutral energy in multi-hadronic events, the search for monoenergetic photons, and good sensitivity in the difficult region of low energy photons. Those features of multi-hadronic events which are most relevant to a neutral detector were calculated using a jet model with parameters extrapolated from SPEAR energies. These distributions are presented and discussed

  12. Temporal evolution of the HF-enhanced plasma line in sporadic E

    International Nuclear Information System (INIS)

    Djuth, F.T.; Gonzales, C.A.

    1988-01-01

    The high-power, high-frequency (HF) facility at Arecibo, Puerto Rico, has been used to study the excitation of Langmuir waves in mid-latitude sporadic E. Measurements of the temporal evolution of so-called HF-enhanced plasma line (HFPL) were made using the Arecibo 430-MHz radar. After HF turn-on in the plasma the HFPL exhibits a rapid growth phase followed by a quick overshoot. During periods of strong HFPL excitation the e-folding growth time of the HFPL power is typically approx-lt 20 μs, and the total overshoot period is ∼1 ms. On the basis of the current observations, mode conversion of the HF wave into Langmuir waves near HF reflection appears to be a promising mechanism for the production of Langmuir waves in sporadic E. Caviton formation at the critical layer is expected to accompany this process, and there is some evidence that the 430-MHz radar is probing the plasma in a region where density cavities of this nature form. While no specific explanation is offered for the HFPL overshoot, it appears that this phenomenon is fundamental to the Langmuir wave excitation process

  13. On plasma-neutral gas interaction

    International Nuclear Information System (INIS)

    Venkataramani, N.; Mattoo, S.K.

    1980-01-01

    The importance of plasma-neutral gas interaction layer has been emphasized by pointing out its application to a wide variety of physical phenomena. The interaction of a magnetised plasma stream penetrating a neutral gas cloud is discussed in the light of Alfven's critical velocity and Varma's threshold velocity on the ionising interaction. Interaction of a moving magnetised plasma with a stationary neutral gas has been studied and described. The device comprises of a plasma gun and an interaction region where neutral gas cloud is injected. The interaction region is provided with a transverse magnetic field of upto 1000 G. Several diagnostics deployed at the interaction region to make measurements on the macroscopic parameters of plasma and neutral gas are described. The parameters of discharge circuits are measured with high current and voltage probes. An interaction between a magnetised plasma stream and a neutral gas cloud is demonstrated. It is shown that this interaction does not have Varma's threshold on their relative velocity. The Alfven's critical velocity phenomenon is shown to depend on the integrated column neutral gas density that a plasma stream encounters while penetrating through it and not on the neutral gas density in the range of 10 17 -10 21 m -3 . (auth.)

  14. White matter involvement in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J; Hess, Christopher P; Vitali, Paolo; Papinutto, Nico; Oehler, Abby; Miller, Bruce L; Lobach, Irina V; Bastianello, Stefano; Geschwind, Michael D; Henry, Roland G

    2014-12-01

    Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (PCreutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean

  15. Ion layers, tides, gravity waves, and electric fields in the upper atmosphere, inferred from Arecibo incoherent scatter radar measurements

    International Nuclear Information System (INIS)

    Morton, Y.T.

    1991-01-01

    This thesis uses data accumulated during 1980-1989 by the Arecibo incoherent scatter radar to study the behavior and physics of ionization irregularities. Low latitude ionization irregularities, known as sporadic-E and intermediate layers, undergo a regular daily descent, convergence, and dumping of ion layers controlled by the neutral tidal wind. A useful way of studying ion layers and their motion is by ion layer trajectory maps which consist of points representing the altitude and time of ionization layers. Two types of maps were used which assigned either a uniform layer intensity or a gray level/pseudo-color to indicate different layer intensities. Important aspects of layer formation are revealed by map analysis. During January, intermediate layers consistently appeared four times per day instead of the normal twice per day pattern. Simulation of ion trajectories based on the ion momentum equation, which includes both Lorentzian and collisional forces, shows that a combination of diurnal, semidiurnal, and six-hour tides is necessary for such a feature to exist, whereas only diurnal and semidiurnal tides are needed to create the normal pattern. The six-hour period tide has not been previously reported. Extra or irregular layers appear frequently in layer trajectory maps, which can be simulated by the addition of gravity waves to the regular tidal wind system. Electric field effects are normally not a factor in low latitude ion layer formation because they are relatively weak and not commonly observed. Layer configurations during a geomagnetic storm, however, indicate that the electric field played an important role in controlling ion motion

  16. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Daoud, H; Valdmanis, P N; Kabashi, E; Dion, P; Dupré, N; Camu, W; Meininger, V; Rouleau, G A

    2009-02-01

    Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study. Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.

  17. MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

    Science.gov (United States)

    Arnold, Andrew

    2016-01-01

    Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

  18. On neutral plasma oscillations

    International Nuclear Information System (INIS)

    Shadwick, B.A.; Morrison, P.J.

    1993-06-01

    We examine the conditions for the existence of spectrally stable neutral modes in a Vlasov-Poisson plasma and show that for stable equilibria of systems that have unbounded spatial domain, the only possible neutral modes are those with phase velocities that correspond to stationary inflection points of the equilibrium distribution function. It is seen that these neutral modes can possess positive or negative free energy

  19. Neutral beam monitoring

    International Nuclear Information System (INIS)

    Fink, J.H.

    1979-01-01

    A neutral beam generated by passing accelerated ions through a walled cell containing a low energy neutral gas, such that charge exchange partially neutralizes the high energy beam, is monitored by detecting the current flowing through the cell wall produced by low energy ions which drift to the wall after the charge exchange. By segmenting the wall into radial and longitudinal segments various beam conditions are identified. (U.K.)

  20. On neutral plasma oscillations

    International Nuclear Information System (INIS)

    Shadwick, B.A.; Texas Univ., Austin; Morrison, P.J.; Texas Univ., Austin

    1994-01-01

    We examine the conditions for the existence of spectrally stable neutral modes in a Vlasov-Poisson plasma and show that for stable equilibria of systems that have unbounded spatial domain, the only possible neutral modes are those with phase velocities that correspond to stationary inflection points of the equilibrium distribution function. It is seen that these neutral modes can posses positive or negative free energy. (orig.)

  1. Sporadic manipulation in money markets with central bank standing facilities

    OpenAIRE

    Ewerhart, Christian; Cassola, Nuno; Ejerskov, Steen; Valla, Natacha

    2004-01-01

    In certain market environments, a large investor may benefit from building up a futures position first and trading subsequently in the spot market (Kumar and Seppi, 1992). The present paper identifies a variation of this type of manipulation that might occur in money markets with an interest rate corridor. We show that manipulation involving the use of central bank facilities would be observable only sporadically. The probability of manipulation decreases when the central bank uses an active ...

  2. Search for neutral leptons

    International Nuclear Information System (INIS)

    Perl, M.L.

    1984-12-01

    At present we know of three kinds of neutral leptons: the electron neutrino, the muon neutrino, and the tau neutrino. This paper reviews the search for additional neutral leptons. The method and significance of a search depends upon the model used for the neutral lepton being sought. Some models for the properties and decay modes of proposed neutral leptons are described. Past and present searches are reviewed. The limits obtained by some completed searches are given, and the methods of searches in progress are described. Future searches are discussed. 41 references

  3. Molecular pathogenesis of sporadic prion diseases in man

    Science.gov (United States)

    Safar, Jiri G.

    2012-01-01

    The yeast, fungal and mammalian prions determine heritable and infectious traits that are encoded in alternative conformations of proteins. They cause lethal sporadic, familial and infectious neurodegenerative conditions in man, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, sporadic fatal insomnia (SFI) and likely variable protease-sensitive prionopathy (VPSPr). The most prevalent of human prion diseases is sporadic (s)CJD. Recent advances in amplification and detection of prions led to considerable optimism that early and possibly preclinical diagnosis and therapy might become a reality. Although several drugs have already been tested in small numbers of sCJD patients, there is no clear evidence of any agent’s efficacy. Therefore, it remains crucial to determine the full spectrum of sCJD prion strains and the conformational features in the pathogenic human prion protein governing replication of sCJD prions. Research in this direction is essential for the rational development of diagnostic as well as therapeutic strategies. Moreover, there is growing recognition that fundamental processes involved in human prion propagation – intercellular induction of protein misfolding and seeded aggregation of misfolded host proteins – are of far wider significance. This insight leads to new avenues of research in the ever-widening spectrum of age-related human neurodegenerative diseases that are caused by protein misfolding and that pose a major challenge for healthcare. PMID:22421210

  4. Cervical dystonia: about familial and sporadic cases in 88 patients

    Directory of Open Access Journals (Sweden)

    Carlos Henrique F. Camargo

    2014-02-01

    Full Text Available Cervical dystonia (CD affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic. Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001. The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01. Generalized cases were more severe in patients with a family history (p<0.01. Sporadic patients had higher levels of pain than familial cases (p<0.05. We expect soon to present the results of genetic analyzes of these patients.

  5. Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility.

    Science.gov (United States)

    Huo, Qiang; Li, Tao; Zhao, Peiqing; Wang, Lianqing

    2015-08-01

    Recently, the association of a single nucleotide polymorphism rs6812193 C/T with sporadic Parkinson's disease (PD) susceptibility has been widely evaluated, but the results remained inconsistent. This association should be clarified because of the importance of it on human health and quality of life. We performed a comprehensive meta-analysis to evaluate the association between the rs6812193 polymorphism and sporadic PD. PubMed was used to retrieve articles published up to June 2014 for all studies evaluating the rs6812193 polymorphism and PD in humans. Ethnicity-specific subgroup analysis was also performed based on ethnicity susceptibility. A total of 17 independent study samples (15 Caucasians and 2 Asians) including 17,956 cases and 52,751 controls were used in the presented study. The MAFT (minor allele T frequency) in PD patients of European descent is obviously higher than Asian cases (p susceptibility among overall samples (OR 0.882, 95 % CI 0.856-0.908) and Caucasian population (OR 0.881, 95 % CI 0.856-0.907), but not in Asian samples (OR 0.918, 95 % CI 0.721-1.168). No evidence of publication bias was observed. Throughout our analysis, the rs6812193 polymorphism is significantly associated with sporadic PD susceptibility in Caucasian samples, and ethnicity might be the key point of inconsistency in rs6812193 studies. Further studies are warranted to re-examine the observed associations, especially in different ethnicities.

  6. Screening of hypoxia-inducible genes in sporadic ALS.

    LENUS (Irish Health Repository)

    Cronin, Simon

    2008-10-01

    Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.

  7. The buffer effect in neutral electrolyte supercapacitors

    DEFF Research Database (Denmark)

    Thrane Vindt, Steffen; Skou, Eivind M.

    2016-01-01

    The observation that double-layer capacitors based on neutral aqueous electrolytes can have significantly wider usable potential windows than those based on acidic or alkaline electrolytes is studied. This effect is explained by a local pH change taking place at the electrode surfaces, leading...... potassium nitrate as the electrolyte and potassium phosphates as the buffer system....

  8. Vendor neutral archive in PACS

    International Nuclear Information System (INIS)

    Agarwal, Tapesh Kumar; Sanjeev

    2012-01-01

    An archive is a location containing a collection of records, documents, or other materials of historical importance. An integral part of Picture Archiving and Communication System (PACS) is archiving. When a hospital needs to migrate a PACS vendor, the complete earlier data need to be migrated in the format of the newly procured PACS. It is both time and money consuming. To address this issue, the new concept of vendor neutral archive (VNA) has emerged. A VNA simply decouples the PACS and workstations at the archival layer. This is achieved by developing an application engine that receives, integrates, and transmits the data using the different syntax of a Digital Imaging and Communication in Medicine (DICOM) format. Transferring the data belonging to the old PACS to a new one is performed by a process called migration of data. In VNA, a number of different data migration techniques are available to facilitate transfer from the old PACS to the new one, the choice depending on the speed of migration and the importance of data. The techniques include simple DICOM migration, prefetch-based DICOM migration, medium migration, and the expensive non-DICOM migration. “Vendor neutral” may not be a suitable term, and “architecture neutral,” “PACS neutral,” “content neutral,” or “third-party neutral” are probably better and preferred terms. Notwithstanding this, the VNA acronym has come to stay in both the medical IT user terminology and in vendor nomenclature, and radiologists need to be aware of its impact in PACS across the globe

  9. Generation of an integration-free induced pluripotent stem cell line (CSC-43 from a patient with sporadic Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Ana Marote

    2018-03-01

    Full Text Available An induced pluripotent stem cell (iPSC line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43 exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.

  10. Generation of a human induced pluripotent stem cell line (CSC-42 from a patient with sporadic form of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Ekaterina Savchenko

    2018-03-01

    Full Text Available Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD. The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs. Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated line could be used for PD modeling to understand the mechanisms that influence the disorder.

  11. Solar eclipse effects of 22 July 2009 on Sporadic-E

    Directory of Open Access Journals (Sweden)

    G. Chen

    2010-02-01

    Full Text Available The total solar eclipse of 22 July 2009, was visible from some regions of China and the intense sporadic-E (Es that broke out during the solar eclipse period over the eastern China provided a unique chance to study solar eclipse effects on the Es-layer. The ground based high-frequency (HF vertical-incidence and oblique-incidence backscatter radio systems in Wuhan and an HF oblique receivers located in Suzhou were operated to detect the Es-layer. The vertical, oblique and backscatter ionograms of 22 and 23 July were recorded, processed and analyzed. The analyzing results show that the critical frequency of Es, the hop number and power of the rays transmitted from Wuhan to Suzhou as well as the Doppler frequency shift of the one-hop oblique-incidence waves reflected by the Es-layer all increased during the solar eclipse period. These variations are displayed in the paper and explained to be induced by the wind-field, which is produced by the powerful meridional air flows from the sunshine region to the moon's shadow.

  12. Solar eclipse effects of 22 July 2009 on Sporadic-E

    Directory of Open Access Journals (Sweden)

    G. Chen

    2010-02-01

    Full Text Available The total solar eclipse of 22 July 2009, was visible from some regions of China and the intense sporadic-E (Es that broke out during the solar eclipse period over the eastern China provided a unique chance to study solar eclipse effects on the Es-layer. The ground based high-frequency (HF vertical-incidence and oblique-incidence backscatter radio systems in Wuhan and an HF oblique receivers located in Suzhou were operated to detect the Es-layer. The vertical, oblique and backscatter ionograms of 22 and 23 July were recorded, processed and analyzed. The analyzing results show that the critical frequency of Es, the hop number and power of the rays transmitted from Wuhan to Suzhou as well as the Doppler frequency shift of the one-hop oblique-incidence waves reflected by the Es-layer all increased during the solar eclipse period. These variations are displayed in the paper and explained to be induced by the wind-field, which is produced by the powerful meridional air flows from the sunshine region to the moon's shadow.

  13. Neutralized transport experiment

    International Nuclear Information System (INIS)

    Roy, P.K.; Yu, S.S.; Eylon, S.; Henestroza, E.; Anders, A.; Gilson, E.P.; Bieniosek, F.M.; Greenway, W.G.; Logan, B.G.; Waldron, W.L.; Shuman, D.B.; Vanecek, D.L.; Welch, D.R.; Rose, D.V.; Thoma, C.; Davidson, R.C.; Efthimion, P.C.; Kaganovich, I.; Sefkow, A.B.; Sharp, W.M.

    2005-01-01

    Experimental details on providing active neutralization of high brightness ion beam have been demonstrated for Heavy Ion Fusion program. A K + beam was extracted from a variable-perveance injector and transported through 2.4 m long quadrupole lattice for final focusing. Neutralization was provided by a localized cathode arc plasma plug and a RF volume plasma system. Effects of beam perveance, emittance, convergence focusing angle, and axial focusing position on neutralization have been investigated. Good agreement has been observed with theory and experiment throughout the study

  14. Application of quantitative DTI metrics in sporadic CJD

    Directory of Open Access Journals (Sweden)

    E. Caverzasi

    2014-01-01

    Full Text Available Diffusion Weighted Imaging is extremely important for the diagnosis of probable sporadic Jakob–Creutzfeldt disease, the most common human prion disease. Although visual assessment of DWI MRI is critical diagnostically, a more objective, quantifiable approach might more precisely identify the precise pattern of brain involvement. Furthermore, a quantitative, systematic tracking of MRI changes occurring over time might provide insights regarding the underlying histopathological mechanisms of human prion disease and provide information useful for clinical trials. The purposes of this study were: 1 to describe quantitatively the average cross-sectional pattern of reduced mean diffusivity, fractional anisotropy, atrophy and T1 relaxation in the gray matter (GM in sporadic Jakob–Creutzfeldt disease, 2 to study changes in mean diffusivity and atrophy over time and 3 to explore their relationship with clinical scales. Twenty-six sporadic Jakob–Creutzfeldt disease and nine control subjects had MRIs on the same scanner; seven sCJD subjects had a second scan after approximately two months. Cortical and subcortical gray matter regions were parcellated with Freesurfer. Average cortical thickness (or subcortical volume, T1-relaxiation and mean diffusivity from co-registered diffusion maps were calculated in each region for each subject. Quantitatively on cross-sectional analysis, certain brain regions were preferentially affected by reduced mean diffusivity (parietal, temporal lobes, posterior cingulate, thalamus and deep nuclei, but with relative sparing of the frontal and occipital lobes. Serial imaging, surprisingly showed that mean diffusivity did not have a linear or unidirectional reduction over time, but tended to decrease initially and then reverse and increase towards normalization. Furthermore, there was a strong correlation between worsening of patient clinical function (based on modified Barthel score and increasing mean diffusivity.

  15. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  16. The monster sporadic group and a theory underlying superstring models

    International Nuclear Information System (INIS)

    Chapline, G.

    1996-09-01

    The pattern of duality symmetries acting on the states of compactified superstring models reinforces an earlier suggestion that the Monster sporadic group is a hidden symmetry for superstring models. This in turn points to a supersymmetric theory of self-dual and anti-self-dual K3 manifolds joined by Dirac strings and evolving in a 13 dimensional spacetime as the fundamental theory. In addition to the usual graviton and dilaton this theory contains matter-like degrees of freedom resembling the massless states of the heterotic string, thus providing a completely geometric interpretation for ordinary matter. 25 refs

  17. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    Burcak Cakir Pekoz

    2014-08-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

  18. Are "Market Neutral" Hedge Funds Really Market Neutral?

    OpenAIRE

    Andrew J. Patton

    2009-01-01

    Using a variety of different definitions of "neutrality," this study presents significant evidence against the neutrality to market risk of hedge funds in a range of style categories. I generalize standard definitions of "market neutrality," and propose five different neutrality concepts. I suggest statistical tests for each neutrality concept, and apply these tests to a database of monthly returns on 1423 hedge funds from five style categories. For the "market neutral" style, approximately o...

  19. Bunched beam neutralization

    International Nuclear Information System (INIS)

    Gammel, G.M.; Maschke, A.W.; Mobley, R.M.

    1979-01-01

    One of the steps involved in producing an intense ion beam from conventional accelerators for Heavy Ion Fusion (HIF) is beam bunching. To maintain space charge neutralized transport, neutralization must occur more quickly as the beam bunches. It has been demonstrated at BNL that a 60 mA proton beam from a 750 kV Cockcroft--Walton can be neutralized within a microsecond. The special problem in HIF is that the neutralization must occur in a time scale of nanoseconds. To study neutralization on a faster time scale, a 40 mA, 450 kV proton beam was bunched at 16 MHz. A biased Faraday cup sampled the bunched beam at the position where maximum bunching was nominally expected, about 2.5 meters from the buncher. Part of the drift region, about 1.8 meters, was occupied by a series of Gabor lenses. In addition to enhancing beam transport by transverse focussing, the background cloud of electrons in the lenses provided an extra degree of neutralization. With no lens, the best bunch factor was at least 20. Bunch factor is defined here as the ratio of the distance between bunches to the FWHM bunch length. With the lens, it was hoped that the increased plasma frequency would decrease the neutralization time and cause an increase in the bunch factor. In fact, with the lens, the instantaneous current increased about three times, but the bunch factor dropped to about 10. Even with the lens, the FWHM of the bunches at the position of maximum bunching was still comparable to or less than the oscillation period of the surrounding electron plasma. Thus, the electron density in the lens must increase before neutralization could be effective in this case, or bunching should be done at a lower frequency

  20. Cognitive disorders after sporadic ecstasy use? A case report.

    Science.gov (United States)

    Ruis, Carla; Postma, Albert; Bouvy, Willem; van der Ham, Ineke

    2015-01-01

    Memory problems and changes in hippocampal structures after chronic ecstasy use are well described in the literature. Cognitive problems after incidental ecstasy use are rare, and the few patients described in case reports returned to their normal cognitive level after a relative short period. FV is a 39-year-old man who used an ecstasy tablet in 2005. This resulted in severe confusion for a few days. The confusion was followed by persistent memory complaints and difficulties orientating in new surroundings. An extensive neuropsychological examination 7 years after the ecstasy use revealed a severe memory disorder. Furthermore, his performance on a virtual reality test of navigation showed serious problems navigating in new surroundings. In comparison with matched control subjects (Bayesian approach for single case studies) his scores were significantly impaired on several subtasks of the navigation test. On a magnetic resonance imaging (MRI) scan of the brain bilateral hippocampal atrophy and sclerosis were visible, comparable to previous MRI studies describing hippocampal damage following ecstasy ingestion. This case report describes persistent memory and navigation disorders after sporadic ecstasy use, supported by structural brain abnormalities seen on the MRI scan. These findings revive the debate on whether sporadic ecstasy use can cause persistent cognitive deficits.

  1. Anorectal function and morphology in patients with sporadic proctalgia fugax.

    Science.gov (United States)

    Eckardt, V F; Dodt, O; Kanzler, G; Bernhard, G

    1996-07-01

    The pathophysiology of sporadic proctalgia fugax remains unknown. This study investigates whether patients with this syndrome exhibit alterations in anal function and morphology. Eighteen patients with sporadic proctalgia fugax and 18 sex-matched and age-matched healthy controls were studied. Manometric studies investigated anal resting and squeeze pressures, the rectoanal inhibitory reflex, rectal compliance, and smooth muscle response to edrophonium chloride administration. External and internal sphincter thickness was measured endosonographically. Patients had slightly higher (P = 0.0291) anal resting pressures (65.5 +/- 11.4 mmHg) than controls (56 +/- 9.9 mmHg). However, anal squeeze pressure, sphincter relaxation during rectal distention, and rectal compliance were similar in both groups, and no alterations were detected in external and internal anal sphincter thickness. Edrophonium chloride administration was followed by sharp postrelaxation contractions in two patients, whereas anal function remained unaltered in controls. Acute episodes of proctalgia, which occurred in two patients while under study, were associated with a rise in anal resting tone and an increase in slow wave amplitude. In the resting state, patients with proctalgia fugax have normal anorectal function and morphology. However, they may exhibit a motor abnormality of the anal smooth muscle during an acute attack.

  2. Slower Dynamics and Aged Mitochondria in Sporadic Alzheimer's Disease

    Science.gov (United States)

    Gargini, Ricardo; García, Esther; Perry, George

    2017-01-01

    Sporadic Alzheimer's disease corresponds to 95% of cases whose origin is multifactorial and elusive. Mitochondrial dysfunction is a major feature of Alzheimer's pathology, which might be one of the early events that trigger downstream principal events. Here, we show that multiple genes that control mitochondrial homeostasis, including fission and fusion, are downregulated in Alzheimer's patients. Additionally, we demonstrate that some of these dysregulations, such as diminished DLP1 levels and its mitochondrial localization, as well as reduced STOML2 and MFN2 fusion protein levels, take place in fibroblasts from sporadic Alzheimer's disease patients. The analysis of mitochondrial network disruption using CCCP indicates that the patients' fibroblasts exhibit slower dynamics and mitochondrial membrane potential recovery. These defects lead to strong accumulation of aged mitochondria in Alzheimer's fibroblasts. Accordingly, the analysis of autophagy and mitophagy involved genes in the patients demonstrates a downregulation indicating that the recycling mechanism of these aged mitochondria might be impaired. Our data reinforce the idea that mitochondrial dysfunction is one of the key early events of the disease intimately related with aging. PMID:29201274

  3. Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas

    OpenAIRE

    Chan, Sock Hoai; Lim, Weng Khong; Ishak, Nur Diana Binte; Li, Shao-Tzu; Goh, Wei Lin; Tan, Gek San; Lim, Kiat Hon; Teo, Melissa; Young, Cedric Ng Chuan; Malik, Simeen; Tan, Mann Hong; Teh, Jonathan Yi Hui; Chin, Francis Kuok Choon; Kesavan, Sittampalam; Selvarajan, Sathiyamoorthy

    2017-01-01

    Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13....

  4. Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Victoria Gonzalo

    Full Text Available BACKGROUND: Colorectal cancer (CRC multiplicity has been mainly related to polyposis and non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation has been shown to play a key role in carcinogenesis, although little is known about its involvement in multiplicity. To assess the effect of methylation in tumor multiplicity in sporadic CRC, hypermethylation of key tumor suppressor genes was evaluated in patients with both multiple and solitary tumors, as a proof-of-concept of an underlying epigenetic defect. METHODOLOGY/PRINCIPAL FINDINGS: We examined a total of 47 synchronous/metachronous primary CRC from 41 patients, and 41 gender, age (5-year intervals and tumor location-paired patients with solitary tumors. Exclusion criteria were polyposis syndromes, Lynch syndrome and inflammatory bowel disease. DNA methylation at the promoter region of the MGMT, CDKN2A, SFRP1, TMEFF2, HS3ST2 (3OST2, RASSF1A and GATA4 genes was evaluated by quantitative methylation specific PCR in both tumor and corresponding normal appearing colorectal mucosa samples. Overall, patients with multiple lesions exhibited a higher degree of methylation in tumor samples than those with solitary tumors regarding all evaluated genes. After adjusting for age and gender, binomial logistic regression analysis identified methylation of MGMT2 (OR, 1.48; 95% CI, 1.10 to 1.97; p = 0.008 and RASSF1A (OR, 2.04; 95% CI, 1.01 to 4.13; p = 0.047 as variables independently associated with tumor multiplicity, being the risk related to methylation of any of these two genes 4.57 (95% CI, 1.53 to 13.61; p = 0.006. Moreover, in six patients in whom both tumors were available, we found a correlation in the methylation levels of MGMT2 (r = 0.64, p = 0.17, SFRP1 (r = 0.83, 0.06, HPP1 (r = 0.64, p = 0.17, 3OST2 (r = 0.83, p = 0.06 and GATA4 (r = 0.6, p = 0.24. Methylation in normal appearing colorectal mucosa from patients with multiple and solitary CRC showed no relevant

  5. Familial or Sporadic Idiopathic Scoliosis – classification based on artificial neural network and GAPDH and ACTB transcription profile

    Science.gov (United States)

    2013-01-01

    Background Importance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein β-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient. Results The comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic

  6. Neutral beam development plan

    International Nuclear Information System (INIS)

    Staten, H.S.

    1980-08-01

    The national plan is presented for developing advanced injection systems for use on upgrades of existing experiments, and use on future facilities such as ETF, to be built in the late 1980's or early 90's where power production from magnetic fusion will move closer to a reality. Not only must higher power and longer pulse length systems be developed , but they must operate reliably; they must be a tool for the experimenter, not the experiment itself. Neutral beam systems handle large amounts of energy and as such, they often are as complicated as the plasma physics experiment itself. This presents a significant challenge to the neutral beam developer

  7. Neutral beam program

    International Nuclear Information System (INIS)

    Anon.

    1979-01-01

    The structure of the beam injection program for the Doublet-3 device is discussed. The design considerations for the beam line and design parameters for the Doublet-3 ion souce are given. Major components of the neutral beam injector system are discussed in detail. These include the neutralizer, magnetic shielding, reflecting magnets, vacuum system, calorimeter and beam dumps, and drift duct. The planned location of the two-injector system for Doublet-3 is illustrated and site preparation is considered. The status of beamline units 1 and 2 and the future program schedule are discussed

  8. Emerging therapeutic options for sporadic inclusion body myositis

    Directory of Open Access Journals (Sweden)

    Alfano LN

    2015-09-01

    Full Text Available Lindsay N Alfano, Linda P Lowes Nationwide Children’s Hospital, Center for Gene Therapy, Columbus, OH, USA Abstract: Sporadic inclusion body myositis is the most common inflammatory muscle disorder preferentially affecting males over the age of 40 years. Progressive muscle weakness of the finger flexors and quadriceps muscles results in loss of independence with activities of daily living and eventual wheelchair dependence. Initial signs of disease are often overlooked and can lead to mis- or delayed diagnosis. The underlying cause of disease is unknown, and disease progression appears refractory to available treatment options. This review discusses the clinical presentation of inclusion body myositis and the current efforts in diagnosis, and focuses on the current state of research for both nonpharmacological and pharmacological treatment options for this patient group. Keywords: myositis, inclusion body myositis, inflammatory myopathy, treatment, function, outcomes

  9. Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

    Science.gov (United States)

    2014-01-01

    Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM. PMID:24948216

  10. Functional impairment in patients with sporadic Inclusion Body Myositis.

    Science.gov (United States)

    Dunlap, Heather V; Macneil, Lauren G; Tarnopolsky, Mark A

    2014-03-01

    We conducted a retrospective chart review of 53 patients diagnosed with sporadic Inclusion Body Myositis (sIBM) who have been followed at the McMaster Neuromuscular Clinic since 1996. We reviewed patient medical histories in order to compare our findings with similar cohorts, and analyzed quantitative strength data to determine functionality in guiding decisions related to gait assistive devices. Patient information was acquired through retrospective clinic chart review. Our study found knee extension strength decreased significantly as patients transitioned to using more supportive gait assistive devices (P cane)(P Falls and fear of falling poses a significant threat to patient physical well-being. The prevalence of dysphagia increased as patients required more supportive gait devices, and finally a significant negative correlation was found between time after onset and creatine kinase (CK) levels (P falling would be beneficial in preventing future falls and improving long-term patient outcomes.

  11. A Tangled Web - Tau and Sporadic Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Selina Wray

    2010-12-01

    Full Text Available Parkinson's disease (PD represents a major challenge for health care systems around the world: it is the most common degenerative movement disorder of old age, affecting over 100,000 people in the UK alone. A great deal of progress has been made in understanding the molecular basis of PD by taking advantage of advances in genetics, initially by the identification of genes responsible for rare mendellian forms of PD (outlined in table one, and more recently by applying genome wide association studies (GWAS to the sporadic form of the disease. Several such GWAS have now been carried out, with a meta-analysis currently under way. Using over 6000 cases and 10000 controls, two of these studies have identified variation at a number of loci as being associated with an increased risk of disease. Three genes stand out as candidates from these studies – the SNCA gene, coding for α -synuclein, the LRRK2 gene, coding for leucine rich repeat kinase 2, and MAPT, coding for the microtubule associated protein tau. Point mutations in α -synuclein, along with gene multiplication events, result in autosomal dominant PD, often with a significant dementia component. In addition to this, α -synuclein is the principle component of the main pathological hallmark of PD, the Lewy body. Mutations in LRRK2 are the most common genetic cause of PD, and so again were a likely candidate for a susceptibility locus for the sporadic form of disease. More surprising, perhaps, was the identification of tau as a susceptibility factor for Parkinson's. In this review we will outline the role of tau in neurodegeneration and in different forms of parkinsonism, and speculate as to what the functional basis of this association might be.

  12. Synchronous GISTs associated with multiple sporadic tumors: a case report

    Directory of Open Access Journals (Sweden)

    Danila Comandini

    2017-08-01

    Full Text Available Gastrointestinal stromal tumors (GISTs are rare neoplasms, but they also represent the most common mesenchymal tumors of the gastrointestinal tract originating from the cell of Cajal. GIST incidence ranges around 1% of all gastrointestinal malignancies. Approximately 5% of all GISTs have a hereditary etiology. The remaining 95% of GISTs are considered sporadic events, with up to 75% of cases driven by a constitutional activation of the c-KIT proto-oncogene. GISTs are generally solitary lesions. Nonetheless, multiple sporadic GISTs can occur and present as synchronous or metachronous tumors, usually associated with familial GIST. Here, we report a case of primary prostate and lung tumors associated with gastric and small bowel GISTs, unrelated to any known hereditary syndrome. Also, in the case we describe, the prostatic tumor came before the GISTs, while the lung tumor occurred later in time and led to pulmonary lobectomy plus lymphoadenectomy, with a diagnosis of nonsmall cell lung cancer. With the exception of a slight difference in lymphoid infiltration, the abdominal and gastric GIST nodules shared the same proliferative MIB1 index and mitotic count. However, the genetic analysis revealed that the gastric GIST and abdominal tumors were characterized by two different c-KIT mutations. This molecular heterogeneity supported the hypothesis of two different synchronous GISTs arising from stomach and ileum. At present, the patient is disease free and has already completed the third year of adjuvant therapy with imatinib. This case supports the importance of the analysis of c-KIT mutational status to distinguish metastases from synchronous multicentric GISTs, with relevant implications in therapeutic decisions, as well as the importance of a dedicated multidisciplinary team and of a radiological follow-up after the diagnosis of a primary GIST, to discover a relapse of the GIST or, possibly, additional malignancies.

  13. Length Scales of the Neutral Wind Profile over Homogeneous Terrain

    DEFF Research Database (Denmark)

    Pena Diaz, Alfredo; Gryning, Sven-Erik; Mann, Jakob

    2010-01-01

    The wind speed profile for the neutral boundary layer is derived for a number of mixing-length parameterizations, which account for the height of the boundary layer. The wind speed profiles show good agreement with the reanalysis of the Leipzig wind profile (950 m high) and with combined cup–soni...

  14. Quiet Time Depression of the Equatorial Electrojet and Dynamics of the F-layer Ionosphere

    Science.gov (United States)

    Khadka, S.; Valladares, C. E.; Doherty, P.

    2017-12-01

    The depression of the equatorial electrojet (EEJ) is marked by a westward current due to streaming movement of laterally limited (±3°) charged particles in the ionospheric E region during the day along the magnetic equator. It is a complex low-latitude phenomenon and driven by various sources of electric fields associated with global neutral wind, solar tidal force, Interplanetary magnetic Field (IMF), etc. This unique physical property of the equatorial ionosphere holds a great promise for sorting out the governing mechanism of the dayside ionospheric electrodynamics and the onset of the enigmatic plasma structures in the ionospheric layers. Present study provides an overview of the special sequence of the longitudinal, seasonal, and occurrence rate variability of the depression of the EEJ, including its temporal variation, using data from an excellent chain of magnetic and ionospheric observatories along the low-latitude regions. A case and statistical study of the geomagnetically quiet time depression of EEJ strengths is presented using a pair of magnetometers, one located at the dip equator and another off the dip equator (±6° to ±9° away) in the American low-latitude regions. The significance of the variability of the depression of the EEJ current observed in the scenario of vertical drifts, sporadic E-layer, the equatorial F region plasma fountain, and height of the peak ionization in the F-layer, as well as GPS-TEC distributions, will be investigated.

  15. Mod en neutral seksualitet!

    DEFF Research Database (Denmark)

    Leer, Jonatan

    2013-01-01

    Towards a Neutral Sexuality! or Roland Barthes as a Queer Thinker? This article argues that the work of Roland Barthes has interesting perspectives in common with the queer theory. This argument will be put forward by using his concept of ‘the neutral’ that Barthes defines as “that which outplays...

  16. Issues in neutral currents

    International Nuclear Information System (INIS)

    Sehgal, L.M.

    1980-01-01

    The experimental results on low energy confirming the structure of the effective Lagrangian of the weak neutral current processes as predicted by the Salam-Weinberg model are reviewed. Some possible modifications of the effective Lagrangian and the feasibility of their experimental verification are also considered. (P.L.)

  17. ITER neutral beam system

    International Nuclear Information System (INIS)

    Mondino, P.L.; Di Pietro, E.; Bayetti, P.

    1999-01-01

    The Neutral Beam (NB) system for the International Thermonuclear Experimental Reactor (ITER) has reached a high degree of integration with the tokamak and with the rest of the plant. Operational requirements and maintainability have been considered in the design. The paper considers the integration with the tokamak, discusses design improvements which appear necessary and finally notes R and D progress in key areas. (author)

  18. Difference in aneurysm characteristics between patients with familial and sporadic aneurysmal subarachnoid haemorrhage

    NARCIS (Netherlands)

    Mensing, Liselore A.; Rinkel, Gabriel J E; Vlak, Monique H M; Van Der Schaaf, Irene C.; Ruigrok, Ynte M.

    2016-01-01

    Object Patients with familial intracranial aneurysms (IA) have a higher risk of rupture than patients with sporadic IA. We compared geometric and morphological risk factors for aneurysmal rupture between patients with familial and sporadic aneurysmal subarachnoid hemorrhage (aSAH) to analyse if

  19. PRKAG3 polymorphisms associated with sporadic Wolff–Parkinson–White syndrome among a Taiwanese population

    Directory of Open Access Journals (Sweden)

    Ken-Pen Weng

    2016-12-01

    Conclusion: This study shows that PRKAG3-230 may be associated with sporadic WPW syndrome among a Taiwanese population. Further studies are warranted to elucidate the role of mutations in AMPK subunit genes other than PRKAG3-230 in sporadic WPW syndrome.

  20. The interaction between stratospheric monthly mean regional winds and sporadic-E

    International Nuclear Information System (INIS)

    Çetin, Kenan; Korlaelçi, Serhat; Özcan, Osman

    2017-01-01

    In the present study, a statistical investigation is carried out to explore whether there is a relationship between the critical frequency (foEs) of the sporadic-E layer that is occasionally seen on the E region of the ionosphere and the quasi-biennial oscillation (QBO) that flows in the east–west direction in the equatorial stratosphere. Multiple regression model as a statistical tool was used to determine the relationship between variables. In this model, the stationarity of the variables (foEs and QBO) was firstly analyzed for each station (Cocos Island, Gibilmanna, Niue Island, and Tahiti). Then, a co-integration test was made to determine the existence of a long-term relationship between QBO and foEs. After verifying the presence of a long-term relationship between the variables, the magnitude of the relationship between variables was further determined using the multiple regression model. As a result, it is concluded that the variations in foEs were explainable with QBO measured at 10 hPa altitude at the rate of 69%, 94%, 79%, and 58% for Cocos Island, Gibilmanna, Niue Island, and Tahiti stations, respectively. It is observed that the variations in foEs were explainable with QBO measured at 70 hPa altitude at the rate of 66%, 69%, 53%, and 47% for Cocos Island, Gibilmanna, Niue Island, and Tahiti stations, respectively. (paper)

  1. Predictors of Preoperative Tinnitus in Unilateral Sporadic Vestibular Schwannoma

    Directory of Open Access Journals (Sweden)

    Georgios Naros

    2017-08-01

    Full Text Available ObjectiveNearly two-thirds of patients with vestibular schwannoma (VS are reporting a significantly impaired quality of life due to tinnitus. VS-associated tinnitus is attributed to an anatomical and physiological damage of the hearing nerve by displacing growth of the tumor. In contrast, the current pathophysiological concept of non-VS tinnitus hypothesizes a maladaptive neuroplasticity of the central nervous system to a (hidden hearing impairment resulting in a subjective misperception. However, it is unclear whether this concept fits to VS-associated tinnitus. This study aims to determine the clinical predictors of VS-associated tinnitus to ascertain the compatibility of both pathophysiological concepts.MethodsThis retrospective study includes a group of 478 neurosurgical patients with unilateral sporadic VS evaluated preoperatively regarding the occurrence of ipsilateral tinnitus depending on different clinical factors, i.e., age, gender, tumor side, tumor size (T1–T4 according to the Hannover classification, and hearing impairment (Gardner–Robertson classification, GR1–5, using a binary logistic regression.Results61.8% of patients complain about a preoperative tinnitus. The binary logistic regression analysis identified male gender [OR 1.90 (1.25–2.75; p = 0.002] and hearing impairment GR3 [OR 1.90 (1.08–3.35; p = 0.026] and GR4 [OR 8.21 (2.29–29.50; p = 0.001] as positive predictors. In contrast, patients with large T4 tumors [OR 0.33 (0.13–0.86; p = 0.024] and complete hearing loss GR5 [OR 0.36 (0.15–0.84; p = 0.017] were less likely to develop a tinnitus. Yet, 60% of the patients with good clinical hearing (GR1 and 25% of patients with complete hearing loss (GR5 suffered from tinnitus.ConclusionThese data are good accordance with literature about non-VS tinnitus indicating hearing impairment as main risk factor. In contrast, complete hearing loss appears a negative predictor for tinnitus. For the first

  2. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

    Science.gov (United States)

    Bayley, Jean-Pierre; Kunst, Henricus P M; Cascon, Alberto; Sampietro, Maria Lourdes; Gaal, José; Korpershoek, Esther; Hinojar-Gutierrez, Adolfo; Timmers, Henri J L M; Hoefsloot, Lies H; Hermsen, Mario A; Suárez, Carlos; Hussain, A Karim; Vriends, Annette H J T; Hes, Frederik J; Jansen, Jeroen C; Tops, Carli M; Corssmit, Eleonora P; de Knijff, Peter; Lenders, Jacques W M; Cremers, Cor W R J; Devilee, Peter; Dinjens, Winand N M; de Krijger, Ronald R; Robledo, Mercedes

    2010-04-01

    Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas. We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype. We undertook a multicentre study in Spain and The Netherlands in 443 apparently sporadic patients with paragangliomas and phaeochromocytomas who did not have mutations in SDHD, SDHC, or SDHB. We analysed DNA of 315 patients for germline mutations of SDHAF2; a subset (n=200) was investigated for gross gene deletions. DNA from a group of 128 tumours was studied for somatic mutations. We also examined a Spanish family with head and neck paragangliomas with a young age of onset for the presence of SDHAF2 mutations, undertook haplotype analysis in this kindred, and assessed their clinical phenotype. We did not identify any germline or somatic mutations of SDHAF2, and no gross gene deletions were noted in the subset of apparently sporadic patients analysed. Investigation of the Spanish family identified a pathogenic germline DNA mutation of SDHAF2, 232G-->A (Gly78Arg), identical to the Dutch kindred. SDHAF2 mutations do not have an important role in phaeochromocytoma and are rare in head and neck paraganglioma. Identification of a second family with the Gly78Arg mutation suggests that this is a crucial residue for the function of SDHAF2. We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes. Dutch Cancer Society, European Union 6th Framework Program, Fondo Investigaciones Sanitarias, Fundación Mutua Madrileña, and Red Temática de Investigación Cooperativa en Cáncer. 2010

  3. Antihypertensive neutral lipid

    Science.gov (United States)

    Snyder, F.L.; Blank, M.L.

    1984-10-26

    The invention relates to the discovery of a class of neutral acetylated either-linked glycerolipids having the capacity to lower blood presure in warm-blooded animals. This physiological effect is structure sensitive requiring a long chain alkyl group at the sn-1 position and a short carbon chain acyl group (acetyl or propionyl) at the sn-2 position, and a hydroxyl group at the sn-3 position.

  4. Exercise Equipment: Neutral Buoyancy

    Science.gov (United States)

    Shackelford, Linda; Valle, Paul

    2016-01-01

    Load Bearing Equipment for Neutral Buoyancy (LBE-NB) is an exercise frame that holds two exercising subjects in position as they apply counter forces to each other for lower extremity and spine loading resistance exercises. Resistance exercise prevents bone loss on ISS, but the ISS equipment is too massive for use in exploration craft. Integrating the human into the load directing, load generating, and motion control functions of the exercise equipment generates safe exercise loads with less equipment mass and volume.

  5. Neutral beams for mirrors

    International Nuclear Information System (INIS)

    Fink, J.H.

    1983-01-01

    An important demonstration of negative ion technology is proposed for FY92 in the MFTF-α+T, an upgrade of the Mirror Fusion Test Facility at the Lawrence Livermore National Laboratory. This facility calls for 200-keV negative ions to form neutral beams that generate sloshing ions in the reactor end plugs. Three different beam lines are considered for this application. Their advantages and disadvantages are discussed

  6. Gargamelle: neutral current event

    CERN Multimedia

    1973-01-01

    This event shows real tracks of particles from the 1200 litre Gargamelle bubble chamber that ran on the PS from 1970 to 1976 and on the SPS from 1976 to 1979. In this image a neutrino passes close to a nucleon and reemerges as a neutrino. Such events are called neutral curent, as they are mediated by the Z0 boson which has no electric charge.

  7. Climate Neutral Campus Key Terms and Definitions | Climate Neutral Research

    Science.gov (United States)

    Campuses | NREL Neutral Campus Key Terms and Definitions Climate Neutral Campus Key Terms and Definitions The term climate neutral evolved along with net zero and a number of other "green" and accuracy in these areas lets research campuses know exactly how close they are to climate

  8. [Lung transplantation in sporadic lymphangioleiomyomatosis: study of 7 cases].

    Science.gov (United States)

    Ansótegui Barrera, Emilio; Mancheño Franch, Nuria; Peñalver Cuesta, Juan Carlos; Vera-Sempere, Francisco; Padilla Alarcón, José

    2013-10-19

    Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that affects only women. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells) that grow in an aberrant manner in the airway, parenchymal lung lymph and blood vessels, determining the onset of pulmonary cystic lesions. The disease has no treatment, progressing to respiratory failure, and lung transplantation (LT) may be a treatment option at this stage. Our goal was to study 7 patients undergoing LT for S-LAM. We studied a series of clinical and demographic characteristics, diagnostic modality and post-transplant outcomes. We performed a descriptive analysis of the series. The Kaplan-Meier method was used to estimate survival. The mean age of onset of symptoms was 35 years, the diagnosis of 37 years and that of LT 38 years. The most common symptom was dyspnea. Four patients had a history of pneumothorax and pleural effusion. The mean forced expiratory volume in one second was 32.7% and the diffusing capacity for carbon monoxide was 29%. All patients were subjected to LT and survival was 100, 85.7 and 57.1% at one, 3 and 5 years, respectively. Three died of bronchiolitis obliterans and 2 necropsies did not show evidence of disease recurrence. LT is a therapeutic option in patients with S-LAM with an advanced respiratory functional impairment. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  9. Facing and managing natural disasters in the Sporades islands, Greece

    Science.gov (United States)

    Karanikola, P.; Panagopoulos, T.; Tampakis, S.; Karantoni, M. I.; Tsantopoulos, G.

    2014-04-01

    The region of the Sporades islands located in central Greece is at the mercy of many natural phenomena, such as earthquakes due to the marine volcano Psathoura and the rift of Anatolia, forest fires, floods, landslides, storms, hail, snowfall and frost. The present work aims at studying the perceptions and attitudes of the residents regarding how they face and manage natural disasters. A positive public response during a hazard crisis depends not only upon the availability and good management of a civil defense plan but also on the knowledge and perception of the possible hazards by the local population. It is important for the stakeholders to know what the citizens expect so that the necessary structures can be developed in the phase of preparation and organization. The residents were asked their opinion about what they think should be done by the stakeholders after a catastrophic natural disaster, particularly about the immediate response of stakeholders and their involvement and responsibilities at different, subsequent intervals of time following the disaster. The residents were also asked about the most common disasters that happen in their region and about the preparation activities of the stakeholders.

  10. CAMS newly detected meteor showers and the sporadic background

    Science.gov (United States)

    Jenniskens, P.; Nénon, Q.; Gural, P. S.; Albers, J.; Haberman, B.; Johnson, B.; Morales, R.; Grigsby, B. J.; Samuels, D.; Johannink, C.

    2016-03-01

    The Cameras for Allsky Meteor Surveillance (CAMS) video-based meteoroid orbit survey adds 60 newly identified showers to the IAU Working List of Meteor Showers (numbers 427, 445-446, 506-507, and part of 643-750). 28 of these are also detected in the independent SonotaCo survey. In total, 230 meteor showers and shower components are identified in CAMS data, 177 of which are detected in at least two independent surveys. From the power-law size frequency distribution of detected showers, we extrapolate that 36% of all CAMS-observed meteors originated from ∼700 showers above the N = 1 per 110,000 shower limit. 71% of mass falling to Earth from streams arrives on Jupiter-family type orbits. The transient Geminids account for another 15%. All meteoroids not assigned to streams form a sporadic background with highest detected numbers from the apex source, but with 98% of mass falling in from the antihelion source. Even at large ∼7-mm sizes, a Poynting-Robertson drag evolved population is detected, which implies that the Grün et al. collisional lifetimes at these sizes are underestimated by about a factor of 10. While these large grains survive collisions, many fade on a 104-y timescale, possibly because they disintegrate into smaller particles by processes other than collisions, leaving a more resilient population to evolve.

  11. A review of drug therapy for sporadic fatal insomnia.

    Science.gov (United States)

    Tabaee Damavandi, Pardis; Dove, Martin T; Pickersgill, Richard W

    2017-09-03

    Sporadic fatal insomnia (sFI) is a rapid progressive neurodegenerative disease characterised by gradual to perpetual insomnia, followed by dysautonomia, coma and death. 1 The cause of sFI was recently mapped to a mutation in a protein, the prion, found in the human brain. It is the unfolding of the prion that leads to the generation of toxic oligomers that destroy brain tissue and function. Recent studies have confirmed that a methionine mutation at codon 129 of the human Prion is characteristic of sFI. Current treatment slows down the progression of the disease, but no cure has been found, yet. We used Molecular Docking and Molecular Dynamics simulation methods, to study the toxic Fatal-Insomnia-prion conformations at local unfolding. The idea was to determine these sites and to stabilise these regions against unfolding and miss-folding, using a small ligand, based on a phenothiazine "moiety". As a result we here discuss current fatal insomnia therapy and present seven novel possible compounds for in vitro and in vivo screening.

  12. Thyroid Sporadic Goiter with Adult Heterotopic Bone Formation

    Directory of Open Access Journals (Sweden)

    Adriana Handra-Luca

    2015-01-01

    Full Text Available Thyroid heterotopic bone formation (HBF in goiter is a rare finding. Five thyroid resection specimens were analyzed for HBF. The results were correlated with clinicomorphological features. All patients were women (33–82 years. The preoperative diagnosis was thyroid goiter or nodule. Treatment consisted in thyroidectomy and lobectomy (3 and 2, resp.. Microscopy showed sporadic nodular goiter. Malformative blood vessels and vascular calcifications were seen in intra- and extrathyroid location (5 and 3, resp.. The number and size of HBFs (total: 28 ranged between 1 and 23/thyroid gland (one bilateral and 1 and 10 mm, respectively. Twelve HBFs were in contact with the thyroid capsule. Most were extranodular (21, versus 6 intranodular. The medical history was positive for dyslipidemia, hyperglycemia, renal dysfunction, and hyperuricemia (2, 3, and 3 cases and 1 case, resp. without any parathyroid abnormality. In conclusion, thyroid HBF may be characterized by subcapsular or extranodular location, various size (usually ≥2 mm, and vascular calcifications and malformations. Features of metabolic syndrome and renal dysfunction may be present, but their exact role in the pathogenesis of HBFs remains to be elucidated.

  13. Bremsstrahlung and neutral currents

    International Nuclear Information System (INIS)

    Ellis, R.G.; McKellar, B.H.J.

    1979-01-01

    The utility of the bremsstrahlung process in detecting parity violations from V-A weak neutral current interference is analysed in two ways. Firstly, bremsstrahlung from polarized lepton-nucleus scattering has an asymmetry with respect to the polarization of the incident leptons, and secondly, bremsstrahlung from unpolarized lepton nucleus scattering has a small circular polarization. The magnitude of each effect is calculated. The ratio of the parity violating contribution and the parity conserving contribution to the cross section is shown to be a misleading measure of the utility of these experiments. A parameter, the figure of merit, is introduced and used to discuss the feasibility of possible experiments

  14. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report

    Directory of Open Access Journals (Sweden)

    Rodríguez-Martínez Ana B

    2012-10-01

    Full Text Available Abstract Introduction The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described protease-sensitive variant or variably protease-sensitive prionopathy has, to the best of our knowledge, not yet been reported. Case presentation A 74-year-old Caucasian woman showed a sporadic Creutzfeldt–Jakob disease clinical phenotype with reactive depression, followed by cognitive impairment, akinetic-rigid Parkinsonism with pseudobulbar syndrome and gait impairment with motor apraxia, visuospatial disorientation, and evident frontal dysfunction features such as grasping, palmomental reflex and brisk perioral reflexes. She died at age 77. Neuropathological findings showed: spongiform change in the patient’s cerebral cortex, striatum, thalamus and molecular layer of the cerebellum with proteinase K-sensitive synaptic-like, dot-like or target-like prion protein deposition in the cortex, thalamus and striatum; proteinase K-resistant prion protein in the same regions; and elongated plaque-like proteinase K-resistant prion protein in the molecular layer of the cerebellum. Molecular analysis of prion protein after proteinase K digestion revealed decreased signal intensity in immunoblot, a ladder-like protein pattern, and a 71% reduction of PrPSc signal relative to non-digested material. Her cerebellum showed a 2A prion protein type largely resistant to proteinase K. Genotype of polymorphism at codon 129 was valine homozygous. Conclusion Molecular typing of prion protein along with clinical and neuropathological data revealed, to the best of our knowledge, the first case of the coexistence of different protease-sensitive prion proteins in the same patient in a rare case that did not fulfill the current clinical diagnostic criteria for either probable or possible sporadic Creutzfeldt–Jakob disease. This highlights the

  15. Plasma neutralizer for H- beams

    International Nuclear Information System (INIS)

    Grossman, M.W.

    1977-01-01

    Neutralization of H - beams by a hydrogen plasma is discussed. Optimum target thickness and maximum neutralization efficiency as a function of the fraction of the hydrogen target gas ionized is calculated for different H - beam energies. Also, the variation of neutralization efficiency with respect to target thickness for different H - beam energies is computed. The dispersion of the neutralized beam by a magnetic field for different energies and different values of B . z is found. Finally, a type of plasma jet is proposed, which may be suitable for a compact H - neutralizer

  16. Adverse Effects of Sporadic Dialysis on Body Composition.

    Science.gov (United States)

    Workeneh, Biruh; Shypailo, Roman; DeCastro, Iris; Shah, Maulin; Guffey, Danielle; Minard, Charles G; Mitch, William E

    2015-01-01

    The aim of this study is to analyze the body composition of patients receiving emergent dialysis and compare their body cell mass (BCM) and fat-free mass (FFM) with those of normal subjects. The care of patients receiving sporadic, emergent dialysis treatment is a growing public health concern and the magnitude of muscle wasting that occurs in this population is not known. We used a cross-sectional design with matching to determine differences in total body potassium--an indicator of both BCM and FFM--between emergent dialysis patients and healthy normal subjects. We studied 22 subjects using a 40K counter that measures BCM and FFM and compared them to controls after matching with sex, height and weight. In the matched comparison, BCM and FFM were significantly lower in subjects with end-stage renal disease (ESRD). Unadjusted BCM was 4.7 kg lower and FFM was 8.8 kg lower for those with ESRD compared to those without ESRD (p FFM (7.7 kg) in the ESRD subjects (p = 0.004). After adjusting for age, height, weight and gender, BCM and FFM were lower by 4.2 and 7.8 kg, respectively (p FFM loss over time was significant, with the ESRD subjects demonstrating 2.2 kg per year decline (p = 0.01). We conclude that among other consequences, muscle wasting indicated by decline in BCM and FFM is a significant concern in the growing emergent dialysis population. © 2015 S. Karger AG, Basel.

  17. Chlamydia pecorum: fetal and placental lesions in sporadic caprine abortion.

    Science.gov (United States)

    Giannitti, Federico; Anderson, Mark; Miller, Myrna; Rowe, Joan; Sverlow, Karen; Vasquez, Marce; Cantón, Germán

    2016-03-01

    Chlamydial abortion in small ruminants is usually associated with Chlamydia abortus infection. Although Chlamydia pecorum has been detected in aborted ruminants and epidemiological data suggests that C. pecorum is abortigenic in these species, published descriptions of lesions in fetuses are lacking. This work describes fetoplacental lesions in a caprine abortion with C. pecorum infection, and further supports the abortigenic role of C. pecorum in ruminants. A 16-month-old Boer goat aborted twin fetuses at ~130 days of gestation. Both fetuses (A and B) and the placenta of fetus A were submitted for postmortem examination and diagnostic workup. At autopsy, the fetuses had moderate anasarca, intermuscular edema in the hindquarters (A), and brachygnathia and palatoschisis (B). In the placenta, the cotyledons were covered by yellow fibrinosuppurative exudate that extended into the adjacent intercotyledonary areas. Histologically, there was severe suppurative and necrotizing placentitis with vasculitis (arteriolitis) and thrombosis, multifocal lymphohistiocytic and neutrophilic hepatitis (A), and fibrinosuppurative enteritis in both fetuses. Chlamydia antigen was detected in the placenta by the direct fluorescent antibody test and in fetal intestines by immunohistochemistry. Nested polymerase chain reaction of DNA extracted from formalin-fixed, paraffin-embedded sections of placenta and intestine amplified 400 bp of the Chlamydia 16S rRNA gene that was sequenced and found to be 99% identical to C. pecorum by BLAST analysis. Other known abortigenic infectious agents were ruled out by specific testing. It is concluded that C. pecorum infection is associated with fetoplacental lesions and sporadic abortion in goats. © 2015 The Author(s).

  18. Geographical and seasonal correlation of multiple sclerosis to sporadic schizophrenia

    Directory of Open Access Journals (Sweden)

    Fritzsche Markus

    2002-12-01

    Full Text Available Abstract Background Clusters by season and locality reveal a striking epidemiological overlap between sporadic schizophrenia and multiple sclerosis (MS. As the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodid ticks, a meta analysis has been performed between all neuropsychiatric birth excesses including MS and the epidemiology of spirochaetal infectious diseases. Results The prevalence of MS and schizophrenic birth excesses entirely spares the tropical belt where human treponematoses are endemic, whereas in more temperate climates infection rates of Borrelia garinii in ticks collected from seabirds match the global geographic distribution of MS. If the seasonal fluctuations of Lyme borreliosis in Europe are taken into account, the birth excesses of MS and those of schizophrenia are nine months apart, reflecting the activity of Ixodes ricinus at the time of embryonic implantation and birth. In America, this nine months' shift between MS and schizophrenic births is also reflected by the periodicity of Borrelia burgdorferi transmitting Ixodes pacificus ticks along the West Coast and the periodicity of Ixodes scapularis along the East Coast. With respect to Ixodid tick activity, amongst the neuropsychiatric birth excesses only amyotrophic lateral sclerosis (ALS shows a similar seasonal trend. Conclusion It cannot be excluded at present that maternal infection by Borrelia burgdorferi poses a risk to the unborn. The seasonal and geographical overlap between schizophrenia, MS and neuroborreliosis rather emphasises a causal relation that derives from exposure to a flagellar virulence factor at conception and delivery. It is hoped that the pathogenic correlation of spirochaetal virulence to temperature and heat shock proteins (HSP might encourage a new direction of research in molecular epidemiology.

  19. Multiple sporadic colorectal cancers display a unique methylation phenotype.

    Directory of Open Access Journals (Sweden)

    Victoria Gonzalo

    Full Text Available Epigenetics are thought to play a major role in the carcinogenesis of multiple sporadic colorectal cancers (CRC. Previous studies have suggested concordant DNA hypermethylation between tumor pairs. However, only a few methylation markers have been analyzed. This study was aimed at describing the epigenetic signature of multiple CRC using a genome-scale DNA methylation profiling. We analyzed 12 patients with synchronous CRC and 29 age-, sex-, and tumor location-paired patients with solitary tumors from the EPICOLON II cohort. DNA methylation profiling was performed using the Illumina Infinium HM27 DNA methylation assay. The most significant results were validated by Methylight. Tumors samples were also analyzed for the CpG Island Methylator Phenotype (CIMP; KRAS and BRAF mutations and mismatch repair deficiency status. Functional annotation clustering was performed. We identified 102 CpG sites that showed significant DNA hypermethylation in multiple tumors with respect to the solitary counterparts (difference in β value ≥0.1. Methylight assays validated the results for 4 selected genes (p = 0.0002. Eight out of 12(66.6% multiple tumors were classified as CIMP-high, as compared to 5 out of 29(17.2% solitary tumors (p = 0.004. Interestingly, 76 out of the 102 (74.5% hypermethylated CpG sites found in multiple tumors were also seen in CIMP-high tumors. Functional analysis of hypermethylated genes found in multiple tumors showed enrichment of genes involved in different tumorigenic functions. In conclusion, multiple CRC are associated with a distinct methylation phenotype, with a close association between tumor multiplicity and CIMP-high. Our results may be important to unravel the underlying mechanism of tumor multiplicity.

  20. Clinical Perspective of Oxidative Stress in Sporadic ALS

    Science.gov (United States)

    D’Amico, Emanuele; Factor-Litvak, Pam; Santella, Regina M.; Mitsumoto, Hiroshi

    2013-01-01

    Sporadic amyotrophic lateral sclerosis (sALS) is one of the most devastating neurological diseases; most patients die within 3 to 4 years after symptom onset. Oxidative stress is a disturbance in the pro-oxidative/anti-oxidative balance favoring the pro-oxidative state. Autopsy and laboratory studies in ALS indicate that oxidative stress plays a major role in motor neuron degeneration and astrocyte dysfunction. Oxidative stress biomarkers in cerebrospinal fluid, plasma, and urine, are elevated, suggesting that abnormal oxidative stress is generated outside of the central nervous system. Our review indicates that agricultural chemicals, heavy metals, military service, professional sports, excessive physical exertion, chronic head trauma, and certain foods might be modestly associated with ALS risk, with a stronger association between risk and smoking. At the cellular level, these factors are all involved in generating oxidative stress. Experimental studies indicate that a combination of insults that induce modest oxidative stress can exert additive deleterious effects on motor neurons, suggesting multiple exposures in real-world environments are important. As the disease progresses, nutritional deficiency, cachexia, psychological stress, and impending respiratory failure may further increase oxidative stress. Moreover, accumulating evidence suggests that ALS is possibly a systemic disease. Laboratory, pathologic, and epidemiologic evidence clearly support the hypothesis that oxidative stress is central in the pathogenic process, particularly in genetically susceptive individuals. If we are to improve ALS treatment, well-designed biochemical and genetic epidemiological studies, combined with a multidisciplinary research approach, are needed and will provide knowledge crucial to our understanding of ALS etiology, pathophysiology, and prognosis. PMID:23797033

  1. Capacitive Neutralization Dialysis for Direct Energy Generation.

    Science.gov (United States)

    Liu, Yue; Zhang, Yi; Ou-Yang, Wei; Bastos Sales, Bruno; Sun, Zhuo; Liu, Fei; Zhao, Ran

    2017-08-15

    Capacitive neutralization dialysis energy (CNDE) is proposed as a novel energy-harvesting technique that is able to utilize waste acid and alkaline solutions to produce electrical energy. CNDE is a modification based on neutralization dialysis. It was found that a higher NaCl concentration led to a higher open-circuit potential when the concentrations of acid and alkaline solutions were fixed. Upon closing of the circuit, the membrane potential was used as a driving force to move counter ions into the electrical double layers at the electrode-liquid interface, thereby creating an ionic current. Correspondingly, in the external circuit, electrons flow through an external resistor from one electrode to the other, thereby generating electrical energy directly. The influence of external resistances was studied to achieve greater energy extraction, with the maximum output of 110 mW/m 2 obtained by employing an external resistance of 5 Ω together with the AC-coated electrode.

  2. Neutral helium beam probe

    Science.gov (United States)

    Karim, Rezwanul

    1999-10-01

    This article discusses the development of a code where diagnostic neutral helium beam can be used as a probe. The code solves numerically the evolution of the population densities of helium atoms at their several different energy levels as the beam propagates through the plasma. The collisional radiative model has been utilized in this numerical calculation. The spatial dependence of the metastable states of neutral helium atom, as obtained in this numerical analysis, offers a possible diagnostic tool for tokamak plasma. The spatial evolution for several hypothetical plasma conditions was tested. Simulation routines were also run with the plasma parameters (density and temperature profiles) similar to a shot in the Princeton beta experiment modified (PBX-M) tokamak and a shot in Tokamak Fusion Test Reactor tokamak. A comparison between the simulation result and the experimentally obtained data (for each of these two shots) is presented. A good correlation in such comparisons for a number of such shots can establish the accurateness and usefulness of this probe. The result can possibly be extended for other plasma machines and for various plasma conditions in those machines.

  3. Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

    Science.gov (United States)

    Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

    2016-01-01

    This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

  4. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    DEFF Research Database (Denmark)

    Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

    2017-01-01

    BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between...

  5. Genetic Relatedness among Nontypeable Pneumococci Implicated in Sporadic Cases of Conjunctivitis

    OpenAIRE

    Barker, Jason H.; Musher, Daniel M.; Silberman, Ronald; Phan, Hoang M.; Watson, David A.

    1999-01-01

    Nontypeable Streptococcus pneumoniae is a common cause of epidemic conjunctivitis. A previous molecular fingerprinting study identified a clone of nontypeable pneumococcus that was responsible for a recent outbreak of conjunctivitis. In the present study, we examined the extent to which pneumococci that cause sporadic cases of conjunctivitis are related to this epidemic strain. Using arbitrarily primed BOX-PCR, we have determined that, of 10 nontypeable pneumococci causing sporadic conjunctiv...

  6. Serum uric acid and lipid profiles in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Chen, Shuai; He, Shuang; Shang, Jun-Kui; Ma, Ming-Ming; Xu, Chang-Shui; Shi, Xiao-Hong; Zhang, Jie-Wen

    2016-02-01

    Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system. Brain lipid homeostasis and oxidative stress seem to play an important role in the disease pathogenesis. But little was known whether serum lipids and uric acid (a natural antioxidant) levels changed in patients with prion disease. Here we retrospectively reviewed and compared the serum lipids and uric acid levels of 19 probable sporadic CJD patients and 26 healthy control subjects. We found that the serum uric acid levels in sporadic CJD patients were significantly lower than that in controls (P=0.01). Serum triglycerides, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and apolipoprotein A1 (ApoA1) were similar in sporadic CJD patients and controls. However, LDL/HDL ratio was lower in sporadic CJD patients (P=0.003). The low serum uric acid and LDL/HDL ratio levels in sporadic CJD indicate that dysfunction in the lipid homeostasis and oxidative stress is associated with sporadic prion disease. Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  7. The Prion Protein Preference of Sporadic Creutzfeldt-Jakob Disease Subtypes*

    Science.gov (United States)

    Klemm, Helen M. J.; Welton, Jeremy M.; Masters, Colin L.; Klug, Genevieve M.; Boyd, Alison; Hill, Andrew F.; Collins, Steven J.; Lawson, Victoria A.

    2012-01-01

    Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. The disease encompasses a spectrum of clinical phenotypes that have been correlated with molecular subtypes that are characterized by the molecular mass of the protease-resistant fragment of the disease-related conformation of the prion protein and a polymorphism at codon 129 of the gene encoding the prion protein. A cell-free assay of prion protein misfolding was used to investigate the ability of these sporadic CJD molecular subtypes to propagate using brain-derived sources of the cellular prion protein (PrPC). This study confirmed the presence of three distinct sporadic CJD molecular subtypes with PrPC substrate requirements that reflected their codon 129 associations in vivo. However, the ability of a sporadic CJD molecular subtype to use a specific PrPC substrate was not determined solely by codon 129 as the efficiency of prion propagation was also influenced by the composition of the brain tissue from which the PrPC substrate was sourced, thus indicating that nuances in PrPC or additional factors may determine sporadic CJD subtype. The results of this study will aid in the design of diagnostic assays that can detect prion disease across the diversity of sporadic CJD subtypes. PMID:22930754

  8. Sporadic-E and spread-F in high latitude region

    International Nuclear Information System (INIS)

    Tao, Kazuhiko

    1974-01-01

    The heretofore made morphological studies of sporadic-E and spread-F as the typical irregularities of electron density are reviewed. These phenomena have close correlation with other geophysical phenomena which occur in the atmosphere of superhigh altitude in high latitude region. Many of these phenomena occur from same causes. Although the quantitative data are insufficient, the sporadic-E and spread-F in high latitude region are supposed to be caused by the precipitating charged particles falling from magnetosphere. A system, which can observe such phenomena simultaneously using the measuring instruments carried by satellites in the atmosphere of high altitude over high latitude region, is desirable to solve such problems. In detail, the morphological study on sporadic-E obtained from the observation of vertically projected ionosphere and the morphological study on sporadic-E from the observation of forward scattering and slanting entrance are reviewed. The correlation of the occurrence frequency of sporadic-E with solar activity, geomagnetic activity and other phenomena was studied. The morphological study on spread-F occurrence is reviewed. The observation of the spread-F in high latitude region by the application of top side sounding is reviewed. The correlation of the sporadic-E and spread-F in high latitude region with other geophysical phenomena is discussed. Finally, the discrete phenomenon and the diffuse phenomenon are discussed too. (Iwakiri, K.)

  9. Spectroscopy of neutral radium

    Energy Technology Data Exchange (ETDEWEB)

    Mol, Aran; De, Subhadeep; Jungmann, Klaus; Wilschut, Hans; Willmann, Lorenz [KVI, University of Groningen, Groningen (Netherlands)

    2008-07-01

    The heavy alkaline earth atoms radium is uniquely sensitive towards parity and time reversal symmetry violations due to a large enhancement of an intrinsic permanent electric dipole moment of the nucleous or the electron. Furthermore, radium is sensitive to atomic parity violation and the nuclear anapole moment. To prepare such experiments spectroscopy of relevant atomic states need to be done. At a later stage we will build a neutral atom trap for radium. We have built an atomic beam of the short lived isotope {sup 225}Ra with a flux of several 10{sup 4} atoms/sec. We are preparing the laser spectroscopy using this beam setup. In the preparation for efficient laser cooling and trapping we have successfully trapped barium, which is similar in it's requirements for laser cooling. The techniques which we have developed with barium can be used to trap rare radium isotopes. We report on the progress of the experiments.

  10. Net neutrality and audiovisual services

    OpenAIRE

    van Eijk, N.; Nikoltchev, S.

    2011-01-01

    Net neutrality is high on the European agenda. New regulations for the communication sector provide a legal framework for net neutrality and need to be implemented on both a European and a national level. The key element is not just about blocking or slowing down traffic across communication networks: the control over the distribution of audiovisual services constitutes a vital part of the problem. In this contribution, the phenomenon of net neutrality is described first. Next, the European a...

  11. LADEE Neutral Mass Spectrometer Data

    Data.gov (United States)

    National Aeronautics and Space Administration — This bundle contains the data collected by the Neutral Mass Spectrometer (NMS) instrument aboard the Lunar Atmosphere and Dust Environment Explorer (LADEE)...

  12. Phenomenology of neutral current interactions

    International Nuclear Information System (INIS)

    Sakurai, J.J.

    1978-01-01

    Neutral-current interactions are discussed within a rather general phenomenological framework without commitment to any particular theoretical model. Three points are kept in mind: what various experiments really measure; the performing of complete experiments to determine the neutral-current couplings; and the testing of models in an objective, emotionally uninvolved manner. The following topics are considered: neutrino-electron scattering, hadronic currents and models, neutrino-induced inclusive hadronic reactions, neutrino-induced exclusive hadronic reactions, and neutral-current phenomena without neutrinos. In conclusion, what has actually been learned about neutral-current interactions is summarized. 9 figures, 2 tables

  13. On becoming neutral: effects of experimental neutralizing reconsidered.

    Science.gov (United States)

    van den Hout, M; van Pol, M; Peters, M

    2001-12-01

    Behaviour Research and Therapy 34 (1996) 889-898 found that writing out a negative thought produced anxiety and an urge to neutralize the thought, that instructing participants to neutralize the thought reduced anxiety/neutralization urge in the short run (i.e. within 2 min), but that in the control group 20 min without instruction was attended by the same reduction in anxiety/urge to neutralize ("natural decay"). The observations were made with pariticipants who scored high on "thought action fusion" and the experiment was set up as exerimental model of obsessions. We repeated the study with participants that were not selected on thought action fusion. All the findings reported by Behaviour Research and Therapy 34 (1996) 889-898 were replicated. Correlational analysis indicated that the strength of the effect was not related to scores on scales measuring "thought action fusion". Behaviour Research and Therapy 34 (1996) 889-898 did not assess whether non-neutralizing was followed by immediate reductions in distress. We did assess this and found that the larger part of the immediate reduction of distress after neutralization also occurs when no neutralization instruction is given. The effects of neutralization instructions in the present type of experiment are considerably less powerful than suggested earlier.

  14. CO2-neutral fuels

    Directory of Open Access Journals (Sweden)

    Goede A. P. H.

    2015-01-01

    Full Text Available The need for storage of renewable energy (RE generated by photovoltaic, concentrated solar and wind arises from the fact that supply and demand are ill-matched both geographically and temporarily. This already causes problems of overcapacity and grid congestion in countries where the fraction of RE exceeds the 20% level. A system approach is needed, which focusses not only on the energy source, but includes conversion, storage, transport, distribution, use and, last but not least, the recycling of waste. Furthermore, there is a need for more flexibility in the energy system, rather than relying on electrification, integration with other energy systems, for example the gas network, would yield a system less vulnerable to failure and better adapted to requirements. For example, long-term large-scale storage of electrical energy is limited by capacity, yet needed to cover weekly to seasonal demand. This limitation can be overcome by coupling the electricity net to the gas system, considering the fact that the Dutch gas network alone has a storage capacity of 552 TWh, sufficient to cover the entire EU energy demand for over a month. This lecture explores energy storage in chemicals bonds. The focus is on chemicals other than hydrogen, taking advantage of the higher volumetric energy density of hydrocarbons, in this case methane, which has an approximate 3.5 times higher volumetric energy density. More importantly, it allows the ready use of existing gas infrastructure for energy storage, transport and distribution. Intermittent wind electricity generated is converted into synthetic methane, the Power to Gas (P2G scheme, by splitting feedstock CO2 and H2O into synthesis gas, a mixture of CO and H2. Syngas plays a central role in the synthesis of a range of hydrocarbon products, including methane, diesel and dimethyl ether. The splitting is accomplished by innovative means; plasmolysis and high-temperature solid oxygen electrolysis. A CO2-neutral fuel

  15. Neutral Color Semitransparent Microstructured Perovskite Solar Cells

    KAUST Repository

    Eperon, Giles E.

    2014-01-28

    Neutral-colored semitransparent solar cells are commercially desired to integrate solar cells into the windows and cladding of buildings and automotive applications. Here, we report the use of morphological control of perovskite thin films to form semitransparent planar heterojunction solar cells with neutral color and comparatively high efficiencies. We take advantage of spontaneous dewetting to create microstructured arrays of perovskite "islands", on a length-scale small enough to appear continuous to the eye yet large enough to enable unattenuated transmission of light between the islands. The islands are thick enough to absorb most visible light, and the combination of completely absorbing and completely transparent regions results in neutral transmission of light. Using these films, we fabricate thin-film solar cells with respectable power conversion efficiencies. Remarkably, we find that such discontinuous films still have good rectification behavior and relatively high open-circuit voltages due to the inherent rectification between the n- and p-type charge collection layers. Furthermore, we demonstrate the ease of "color-tinting" such microstructured perovksite solar cells with no reduction in performance, by incorporation of a dye within the hole transport medium. © 2013 American Chemical Society.

  16. Electromagnetic radiation optimum neutralizer

    International Nuclear Information System (INIS)

    Smirnov, Igor

    2002-01-01

    This particular article relates to subtle electrical effects, and provides some evidence of a fundamental nature on how subtle low frequency electromagnetic fields might be utilized to protect human body against harmful effects of high frequencies electromagnetic radiation. I have focused my efforts on definite polar polymer compound named EMRON which is patented in the USA. This polar polymer compound can be excited by external high frequencies electromagnetic fields to generate subtle low frequency oscillations that are beneficial for cellular life structures. This concept is based on the possibility of existence of resonance phenomenon between polar polymers and biopolymers such as proteins, nucleic acids, lipids, etc. Low frequency patterns generated by defined polar polymer compound can interact with biostructures and transmit the signals that support and improve cellular functions in the body. The mechanism of this process was confirmed by number of studies. The animal (including human) brain is affected by electromagnetic waves to the extent that production of Alpha or Theta waves can be directly induced into brain by carrying an ELF (extremely low frequency, 5-12 Hz) signal on a microwave carrier frequency. EMRON does not reduce the power of electromagnetic fields. It 'shields' the cellular structures of the body against the harmful effects of EMR. The radiation is still entering the body but the neutralizing effect of EMRON renders the radiation harmless

  17. Is science metaphysically neutral?

    Science.gov (United States)

    Fry, Iris

    2012-09-01

    This paper challenges the claim that science is metaphysically neutral upheld by contenders of the separation of peacefully co-existent science and religion and by evolutionary theists. True, naturalistic metaphysical claims can neither be refuted nor proved and are thus distinct from empirical hypotheses. However, metaphysical assumptions not only regulate the theoretical and empirical study of nature, but are increasingly supported by the growing empirical body of science. This historically evolving interaction has contributed to the development of a naturalistic worldview that renounces the necessity of a transcendent god and of purposeful design. The thesis presented here differs not only from the claims of the "separatists" and of evolutionary theists. In pointing to the metaphysical aspects of science, I also criticize the failure of some evolutionary naturalists to distinguish between empirical and metaphysical contentions. Most important, based on the examination of science suggested here, creationists' false accusation that science is only a naturalistic dogma is refuted. Finally, the difficulties involved in the position endorsed here for the public support of evolution are acknowledged, taking into account the high religious profile of the American society and the social and political context in the US and in other countries. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. The merits of neutral theory

    NARCIS (Netherlands)

    Alonso, D.; Etienne, R.S.; McKane, A.J.

    2006-01-01

    Hubbell's neutral theory of biodiversity has challenged the classic niche-based view of ecological community structure. Although there have been many attempts to falsify Hubbell's theory, we argue that falsification should not lead to rejection, because there is more to the theory than neutrality

  19. Neutral evolution of mutational robustness

    NARCIS (Netherlands)

    Nimwegen, Erik van; Crutchfield, James P.; Huynen, Martijn

    1999-01-01

    We introduce and analyze a general model of a population evolving over a network of selectively neutral genotypes. We show that the population s limit distribution on the neutral network is solely determined by the network topology and given by the principal eigenvector of the network

  20. Net neutrality and audiovisual services

    NARCIS (Netherlands)

    van Eijk, N.; Nikoltchev, S.

    2011-01-01

    Net neutrality is high on the European agenda. New regulations for the communication sector provide a legal framework for net neutrality and need to be implemented on both a European and a national level. The key element is not just about blocking or slowing down traffic across communication

  1. Magnetic layers and neutral points near a rotating black hole

    Czech Academy of Sciences Publication Activity Database

    Karas, Vladimír; Kopáček, Ondřej

    2009-01-01

    Roč. 26, č. 2 (2009), s. 1-9 ISSN 0264-9381 R&D Projects: GA ČR GA205/07/0052 Institutional research plan: CEZ:AV0Z10030501 Keywords : black holes * magnetic fields Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 3.029, year: 2009

  2. Tokamak plasma boundary layer model

    International Nuclear Information System (INIS)

    Volkov, T.F.; Kirillov, V.D.

    1983-01-01

    A model has been developed for the limiter layer and for the boundary region of the plasma column in a tokamak to facilitate analytic calculations of the thickness of the limiter layers, the profiles and boundary values of the temperature and the density under various conditions, and the difference between the electron and ion temperatures. This model can also be used to analyze the recycling of neutrals, the energy and particle losses to the wall and the limiter, and other characteristics

  3. Boosting water oxidation layer-by-layer.

    Science.gov (United States)

    Hidalgo-Acosta, Jonnathan C; Scanlon, Micheál D; Méndez, Manuel A; Amstutz, Véronique; Vrubel, Heron; Opallo, Marcin; Girault, Hubert H

    2016-04-07

    Electrocatalysis of water oxidation was achieved using fluorinated tin oxide (FTO) electrodes modified with layer-by-layer deposited films consisting of bilayers of negatively charged citrate-stabilized IrO2 NPs and positively charged poly(diallyldimethylammonium chloride) (PDDA) polymer. The IrO2 NP surface coverage can be fine-tuned by controlling the number of bilayers. The IrO2 NP films were amorphous, with the NPs therein being well-dispersed and retaining their as-synthesized shape and sizes. UV/vis spectroscopic and spectro-electrochemical studies confirmed that the total surface coverage and electrochemically addressable surface coverage of IrO2 NPs increased linearly with the number of bilayers up to 10 bilayers. The voltammetry of the modified electrode was that of hydrous iridium oxide films (HIROFs) with an observed super-Nernstian pH response of the Ir(III)/Ir(IV) and Ir(IV)-Ir(IV)/Ir(IV)-Ir(V) redox transitions and Nernstian shift of the oxygen evolution onset potential. The overpotential of the oxygen evolution reaction (OER) was essentially pH independent, varying only from 0.22 V to 0.28 V (at a current density of 0.1 mA cm(-2)), moving from acidic to alkaline conditions. Bulk electrolysis experiments revealed that the IrO2/PDDA films were stable and adherent under acidic and neutral conditions but degraded in alkaline solutions. Oxygen was evolved with Faradaic efficiencies approaching 100% under acidic (pH 1) and neutral (pH 7) conditions, and 88% in alkaline solutions (pH 13). This layer-by-layer approach forms the basis of future large-scale OER electrode development using ink-jet printing technology.

  4. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D.

    2003-01-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153

  5. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D

    2003-02-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153.

  6. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

    1995-01-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  7. The genetics of radiation-induced and sporadic osteosarcoma: a unifying theory?

    International Nuclear Information System (INIS)

    Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J.

    2002-01-01

    Cancer is a disease of the genome, with the neoplastic phenotype being passed from one cell generation to the other. Radiation-induced cancer has often been considered to represent a unique entity amongst neoplasia, with the energy deposition being held responsible for both direct (gene mutations) and indirect (bystander effects, induced instability etc) alterations to the cellular genome. However, radiogenic tumours in man and experimental animals appear to be physiologically and genetically indistinguishable from their sporadic counterparts, suggesting that the aetiologies of these two tumour types are in fact closely related. We have conducted a general screen of the genetic alterations in radiation-induced mouse osteosarcoma, a tumour that is histopathologically indistinguishable from human sporadic osteosarcoma. Comparison of the two tumour types indicates the existence of a common set of genetic changes, providing additional evidence to support the concept that the molecular pathology of radiation-induced malignancy is no different to that of sporadic cancers. (author)

  8. Clinical and epidemiological evaluation of patients with sporadic colorectal cancer

    Directory of Open Access Journals (Sweden)

    Glaucia Maria de Mendonça Fernandes

    2014-10-01

    Full Text Available Background: This study aims to perform a survey on clinical data, sociodemographic and risk factors from patients with sporadic colorectal cancer (SCRC treated between 2004 and 2008 in the Coloproctology Service of a teaching hospital in the North-western region of São Paulo. Methods: We analyzed 749 medical records. Of these, 460 were from colon cancer patients and 289 from rectal cancer patients. Most of the individuals had white skin and were aged over 62 years. The variables that were analyzed included gender, age, skin color, professional occupation, alcohol drinking and cigarette smoking, family history of cancer, and comorbidities. The identification of the clinical-sociodemographic profile and risk factors in a population with the SCRC the northwest region of São Paulo was performed to collaborate with prevention strategies. Results: The occurrence of SCRC did not differ much between genders. The most prevalent professional occupations were those related to household chores, agricultural and commercial activities. Among the comorbidities, hypertension and cholelithiasis were the most representative. The most common diagnosis method and treatment for the majority of patients were coloscopy and surgery, respectively. On average, the time of the disease progression was eight months. The median number of lymph nodes excised ranged between 11 and 14. The most common metastasis was hepatic. Conclusion: The occurrence of colorectal cancer is more frequent in men's white skin with aged over 62 years. Professional occupation seems to be more important for those exposed to carcinogenic agents. This type of tumor mostly affects the distal regions of the colon and rectum with the occurrence of liver metastasis. The affected individuals usually have low survival due to its high aggressiveness. Resumo: Experiência: O presente estudo tem como objetivo realizar um levantamento de dados clínicos e fatores sociodemográficos e de risco de pacientes

  9. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

    Science.gov (United States)

    Tomiyama, Hiroyuki; Li, Yuanzhe; Yoshino, Hiroyo; Mizuno, Yoshikuni; Kubo, Shin-Ichiro; Toda, Tatsushi; Hattori, Nobutaka

    2009-05-22

    DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

  10. Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

    Science.gov (United States)

    Kobayashi, Atsushi; Parchi, Piero; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

    2016-06-01

    As an experimental model of acquired Creutzfeldt-Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock-in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ). Interestingly, this distinctive combination of molecular and pathological features has been, to date, observed in acquired CJD but not in sporadic CJD. Assuming that these distinctive phenotypic traits are specific for acquired CJD, we revisited the literature and found two cases showing widespread kuru plaques despite the 129 M/M genotype, in a neurosurgeon and in a patient with a medical history of neurosurgery without dura mater grafting. By Western blot analysis of brain homogenates, we revealed the intermediate type of PrP(Sc) in both cases. Furthermore, transmission properties of brain extracts from these two cases were indistinguishable from those of a subgroup of dura mater graft-associated iatrogenic CJD caused by infection with the sporadic CJD strain V2. These data strongly suggest that the two atypical CJD cases, previously thought to represent sporadic CJD, very likely acquired the disease through exposure to prion-contaminated brain tissues. Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. © 2015 Japanese Society of Neuropathology.

  11. An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis

    Directory of Open Access Journals (Sweden)

    Melissa S Rotunno

    2013-12-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a fatal neurodegenerative disorder that targets motor neurons, leading to paralysis and death within a few years of disease onset. While several genes have been linked to the inheritable, or familial, form of ALS, much less is known about the cause(s of sporadic ALS, which accounts for approximately 90% of ALS cases. Due to the clinical similarities between familial and sporadic ALS, it is plausible that both forms of the disease converge on a common pathway and, therefore, involve common factors. Recent evidence suggests the Cu,Zn-superoxide dismutase (SOD1 protein to be one such factor that is common to both sporadic and familial ALS. In 1993, mutations were uncovered in SOD1 that represent the first known genetic cause of familial ALS. While the exact mechanism of mutant-SOD1 toxicity is still not known today, most evidence points to a gain of toxic function that stems, at least in part, from the propensity of this protein to misfold. In the wild-type SOD1 protein, non-genetic perturbations such as metal depletion, disruption of the quaternary structure, and oxidation, can also induce SOD1 to misfold. In fact, these aforementioned post-translational modifications cause wild-type SOD1 to adopt a toxic conformation that is similar to familial ALS-linked SOD1 variants. These observations, together with the detection of misfolded wild-type SOD1 within human post-mortem sporadic ALS samples, have been used to support the controversial hypothesis that misfolded forms of wild-type SOD1 contribute to sporadic ALS pathogenesis. In this review, we present data from the literature that both support and contradict this hypothesis. We also discuss SOD1 as a potential therapeutic target for both familial and sporadic ALS.

  12. Is an inequality-neutral flat tax reform really neutral?

    OpenAIRE

    Juan Prieto Rodríguez; Juan Gabriel Rodríguez; Rafael Salas

    2004-01-01

    . Let us assume a revenue- and inequality-neutral flat tax reform shifting from a graduated-rate tax. Is this reform really neutral in terms of the income distribution? Traditionally, there has been a bias toward the inequality analysis, forgetting other relevant aspects of the income distribution. This kind of reforms implies a set of composite transfers, both progressive and regressive, even though inequality remains unchanged. This paper shows that polarization is a useful tool for charact...

  13. Genetic Relatedness among Nontypeable Pneumococci Implicated in Sporadic Cases of Conjunctivitis

    Science.gov (United States)

    Barker, Jason H.; Musher, Daniel M.; Silberman, Ronald; Phan, Hoang M.; Watson, David A.

    1999-01-01

    Nontypeable Streptococcus pneumoniae is a common cause of epidemic conjunctivitis. A previous molecular fingerprinting study identified a clone of nontypeable pneumococcus that was responsible for a recent outbreak of conjunctivitis. In the present study, we examined the extent to which pneumococci that cause sporadic cases of conjunctivitis are related to this epidemic strain. Using arbitrarily primed BOX-PCR, we have determined that, of 10 nontypeable pneumococci causing sporadic conjunctivitis, 5 were clonal and closely related to a previous outbreak strain, whereas 5 others were genetically diverse. PMID:10565927

  14. Hypermethylation of the FANCC and FANCL Promoter Regions in Sporadic Acute Leukaemia

    Directory of Open Access Journals (Sweden)

    C. J. Hess

    2008-01-01

    Full Text Available Objective: Inactivation of the FA-BRCA pathway results in chromosomal instability. Fanconi anaemia (FA patients have an inherited defect in this pathway and are strongly predisposed to the development of acute myeloid leukaemia (AML. Studies in sporadic cancers have shown promoter methylation of the FANCF gene in a significant proportion of various solid tumours. However, only a single leukaemic case with methylation of one of the FA-BRCA genes has been described to date, i.e. methylation of FANCF in cell line CHRF-288. We investigated the presence of aberrant methylation in 11 FA-BRCA genes in sporadic cases of leukaemia.

  15. Reactive GTS Allocation Protocol for Sporadic Events Using the IEEE 802.15.4

    Directory of Open Access Journals (Sweden)

    Mukhtar Azeem

    2014-01-01

    by the IEEE 802.15.4 standard. The proposed control protocol ensures that a given offline sporadic schedule can be adapted online in a timely manner such that the static periodic schedule has not been disturbed and the IEEE 802.15.4 standard compliance remains intact. The proposed protocol is simulated in OPNET. The simulation results are analyzed and presented in this paper to prove the correctness of the proposed protocol regarding the efficient real-time sporadic event delivery along with the periodic event propagation.

  16. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

    2011-04-15

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  17. Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Statland, Jeffrey M; Barohn, Richard J; McVey, April L; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness

    DEFF Research Database (Denmark)

    Schnack, Didde Trærup; Kiss, Katalin; Hansen, Søren

    2017-01-01

    Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss......-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis...

  19. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

    DEFF Research Database (Denmark)

    van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

    2010-01-01

    Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset...... selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates 'age' and 'disease duration' similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor...

  20. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O.; Plato, Brian M; Parker, John

    2011-01-01

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  1. Neutrality Versus Materiality: A Thermodynamic Theory of Neutral Surfaces

    Directory of Open Access Journals (Sweden)

    Rémi Tailleux

    2016-09-01

    Full Text Available In this paper, a theory for constructing quasi-neutral density variables γ directly in thermodynamic space is formulated, which is based on minimising the absolute value of a purely thermodynamic quantity J n . Physically, J n has a dual dynamic/thermodynamic interpretation as the quantity controlling the energy cost of adiabatic and isohaline parcel exchanges on material surfaces, as well as the dependence of in-situ density on spiciness, in a description of water masses based on γ, spiciness and pressure. Mathematically, minimising | J n | in thermodynamic space is showed to be equivalent to maximising neutrality in physical space. The physics of epineutral dispersion is also reviewed and discussed. It is argued, in particular, that epineutral dispersion is best understood as the aggregate effect of many individual non-neutral stirring events (being understood here as adiabatic and isohaline events with non-zero buoyancy, so that it is only the net displacement aggregated over many events that is approximately neutral. This new view resolves an apparent paradox between the focus in neutral density theory on zero-buoyancy motions and the overwhelming evidence that lateral dispersion in the ocean is primarily caused by non-zero buoyancy processes such as tides, residual currents and sheared internal waves. The efficiency by which a physical process contributes to lateral dispersion can be characterised by its energy signature, with those processes releasing available potential energy (negative energy cost being more efficient than purely neutral processes with zero energy cost. The latter mechanism occurs in the wedge of instability, and its source of energy is the coupling between baroclinicity, thermobaricity, and density compensated temperature/salinity anomalies. Such a mechanism, which can only exist in a salty ocean, is speculated to be important for dissipating spiciness anomalies and neutral helicity. The paper also discusses potential

  2. Net Neutrality: Background and Issues

    National Research Council Canada - National Science Library

    Gilroy, Angele A

    2006-01-01

    .... The move to place restrictions on the owners of the networks that compose and provide access to the Internet, to ensure equal access and nondiscriminatory treatment, is referred to as "net neutrality...

  3. Weak neutral-current interactions

    International Nuclear Information System (INIS)

    Barnett, R.M.

    1978-08-01

    The roles of each type of experiment in establishing uniquely the values of the the neutral-current couplings of u and d quarks are analyzed together with their implications for gauge models of the weak and electromagnetic interactions. An analysis of the neutral-current couplings of electrons and of the data based on the assumption that only one Z 0 boson exists is given. Also a model-independent analysis of parity violation experiments is discussed. 85 references

  4. Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer

    NARCIS (Netherlands)

    Klauke, M.L.; Hoogerbrugge-van der Linden, N.; Budczies, J.; Bult, P.; Prinzler, J.; Radke, C.; van Krieken, J.H.; Dietel, M.; Denkert, C.; Muller, B.M.

    2012-01-01

    Poly(ADP-ribose) polymerase 1 (PARP) is a key element of the single-base excision pathway for repair of DNA single-strand breaks. To compare the cytoplasmic and nuclear poly(ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic

  5. Glycoform-selective prion formation in sporadic and familial forms of prion disease

    NARCIS (Netherlands)

    Xiao, X.; Yuan, J.; Haïk, S.; Cali, I.; Zhan, Y.; Moudjou, M.; Li, B.; Laplanche, J.L.; Laude, H.; Langeveld, J.P.M.; Gambetti, P.

    2013-01-01

    The four glycoforms of the cellular prion protein (PrP(C)) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc)) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc) in the recently identified

  6. Sporadic radio emission connected with a definite manifestation of solar activity in the near Earth space

    Science.gov (United States)

    Dudnic, A. V.; Zaljubovski, I. I.; Kartashev, V. M.; Shmatko, E. S.

    1985-01-01

    Sporadic radio emission of near Earth space at the frequency of 38 MHz is shown to appear in the event of a rapid development of instabilities in the ionospheric plasma. The instabilities are generated due to primary ionospheric disturbances occurring under the influence of solar chromospheric flares.

  7. Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases

    Directory of Open Access Journals (Sweden)

    Shih-Bin Yeh

    2014-09-01

    Discussion: These cases confirm that sporadic NFLE closely resembles familial NFLE, and comprises a set of distinct clinical manifestations, with variable intensity, and variable scalp EEG epileptiform abnormalities across sleep and wakefulness, which have previously been identified in Caucasian patients from Europe and North America.

  8. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

    NARCIS (Netherlands)

    P. Sanchez-Juan (Pascual); M.T. Bishop (Matthew); G.G. Kovacs (Gabor); M. Calero (Miguel); Y.S. Aulchenko (Yurii); A. Ladogana (Anna); A. Boyd (Alison); V. Lewis (Victoria); C. Ponto (Claudia); Calero, O. (Olga); A. Poleggi (Anna); A. Carracedo (Angel); S.J. van der Lee (Sven); T. Ströbel (Thomas); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); S. Haik; O. Combarros (Onofre); J. Berciano (José); A.G. Uitterlinden (André); S.J. Collins (Steven); H. Budka (Herbert); J-P. Brandel (Jean-Philippe); J.-L. Laplanche (Jean-Louis); M. Pocchiari (Maurizio); I. Zerr (Inga); R. Knight (Richard); R.G. Will (Robert); C.M. van Duijn (Cornelia)

    2015-01-01

    textabstractWe performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a

  9. Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

    Science.gov (United States)

    Al-Chalabi, Ammar; Lewis, Cathryn M

    2011-01-01

    Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.

  10. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

    NARCIS (Netherlands)

    Es, M.A. van; Vught, P.W. van; Veldink, J.H.; Andersen, P.M.; Birve, A.; Lemmens, R.; Cronin, S.; Kooi, A.J. van der; Visser, M. de; Schelhaas, H.J.; Hardiman, O.; Ragoussis, I.; Lambrechts, D.; Robberecht, W.; Wokke, J.H.J.; Ophoff, R.A.; Berg, L.H. van den

    2009-01-01

    A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS,

  11. Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis

    NARCIS (Netherlands)

    Kremer, P.H.; Koeleman, B.P.C.; Rinkel, G.J.; Diekstra, F.P.; Berg, L.H. van den; Veldink, J.H.; Klijn, C.J.M.

    2016-01-01

    BACKGROUND: Case-control studies have reported multiple genetic loci to be associated with sporadic brain arteriovenous malformations (AVMs) but most of these have not been replicated in independent populations. The aim of this study was to find additional evidence for these reported associations

  12. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

    NARCIS (Netherlands)

    Wills, A-M.; Cronin, S.; Slowik, A.; Kasperaviciute, D.; Van Es, M. A.; Morahan, J. M.; Valdmanis, P. N.; Meininger, V.; Melki, J.; Shaw, C. E.; Rouleau, G. A.; Fisher, E. M. C.; Shaw, P. J.; Morrison, K. E.; Pamphlett, R.; Van den Berg, L. H.; Figlewicz, D. A.; Andersen, P. M.; Al-Chalabi, A.; Hardiman, O.; Purcell, S.; Landers, J. E.; Brown, R. H.

    2009-01-01

    Background: Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. Methods: We

  13. CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

    NARCIS (Netherlands)

    van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

    2010-01-01

    In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

  14. Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

    NARCIS (Netherlands)

    E. Alcalde-Cabero; J. Almazán-Isla; J-P. Brandel (Jean-Philippe); M. Breithaupt; J. Catarino; S.J. Collins (Steven); J. Haybäck; R. Höftberger (Romana); E. Kahana; G.G. Kovacs (Gabor); A. Ladogana (Anna); E. Mitrová (Eva); A. Molesworth; Y. Nakamura; M. Pocchiari (Maurizio); M. Popovic; M. Ruiz-Tovar; A. Taratuto; C. van Duin; M. Yamada; R.G. Will (Robert); I. Zerr (Inga); J. de Pedro-Cuesta (Jesús)

    2012-01-01

    textabstractIn 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network

  15. Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Douet, Jean Yves; Zafar, Saima; Perret-Liaudet, Armand; Lacroux, Caroline; Lugan, Séverine; Aron, Naima; Cassard, Herve; Ponto, Claudia; Corbière, Fabien; Torres, Juan Maria; Zerr, Inga; Andreoletti, Olivier

    2014-01-01

    We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease. The measured infectivity levels were comparable to those reported in various animals with transmissible spongiform encephalopathies.

  16. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

    Energy Technology Data Exchange (ETDEWEB)

    Garcia Santos, J.M. [Servicio de Radiodiagnostico, HU Dr. Morales Meseguer, Murcia (Spain)]|[Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Lopez Corbalan, J.A. [Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Martinez-Lage, J.F. [Service of Neurosurgery, HU Virgen de la Arrixaca, Murcia (Spain); Sicilis Guillen, J. [Service of Neurology, HU Virgen de la Arrixaca, Murcia (Spain)

    1996-04-01

    Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

  17. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

    International Nuclear Information System (INIS)

    Garcia Santos, J.M.; Lopez Corbalan, J.A.; Martinez-Lage, J.F.; Sicilis Guillen, J.

    1996-01-01

    Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

  18. The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Blasco, Hélène; Corcia, Philippe; Veyrat-Durebex, Charlotte; Coutadeur, Cathleen; Fournier, Clémentine; Camu, William; Gordon, Paul; Praline, Julien; Andres, Christian R; Vourc'h, Patrick

    2011-05-01

    Chromogranins interact with mutant forms of superoxide dismutase 1 (SOD1) responsible for a portion of familial amyotrophic lateral sclerosis (ALS). A particular variation (P413L) in the chromogranin B gene, CHGB, has been recently associated with an earlier age at onset in both familial and sporadic ALS. The aim of our study was to evaluate the P413L chromogranin variation in French patients with sporadic amyotrophic lateral sclerosis. We developed a High Resolution DNA Melting (HRM) protocol to analyse the P413L variation in the CHGB gene in 540 French patients with sporadic ALS and 504 controls. The clinical characteristics of patients were analysed in relation to their genotype. Results showed that our study on a large cohort of French-Caucasian patients with SALS and controls failed to confirm an increased frequency of the 413L variant in SALS patients. This frequency was 5.3% in the SALS population and 5.5% in the control group. Moreover, we did not observe a previous observation of a difference of age at onset between T-allele carriers and non-carriers (median age of onset 60.4 vs. 62.0 years of age, respectively). Thus, our findings do not support the 413L variant of rs742710 as a risk factor for sporadic ALS in the French population.

  19. S182 and STM2 gene missense mutations in sporadic alzheimer disease

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Susumu; Matsushita, Sachio; Hasegawa, Yoshio; Muramatsu, Taro [Kurihama National Hospital, Yokosuka (Japan)] [and others

    1996-07-26

    The linkage of genes S182 and STM2 to early-onset or late-onset sporadic Alzheimer disease (AD) was not found in a group of 97 clinically-diagnosed AD patients and 46 autopsy-confirmed AD cases, using PCR-RFLP methods. 7 refs.

  20. COL11A1 in FAP polyps and in sporadic colorectal tumors

    International Nuclear Information System (INIS)

    Fischer, Heléne; Salahshor, Sima; Stenling, Roger; Björk, Jan; Lindmark, Gudrun; Iselius, Lennart; Rubio, Carlos; Lindblom, Annika

    2001-01-01

    We previously reported that the α-1 chain of type 11 collagen (COL11A1), not normally expressed in the colon, was up-regulated in stromal fibroblasts in most sporadic colorectal carcinomas. Patients with germline mutations in the APC gene show, besides colonic polyposis, symptoms of stromal fibroblast involvement, which could be related to COL11A1 expression. Most colorectal carcinomas are suggested to be a result of an activated Wnt- pathway, most often involving an inactivation of the APC gene or activation of β-catenin. We used normal and polyp tissue samples from one FAP patient and a set of 37 sporadic colorectal carcinomas to find out if the up-regulation of COL11A1 was associated with an active APC/β-catenin pathway. In this study we found a statistically significant difference in COL11A1 expression between normal tissue and adenomas from one FAP patient, and all adenomas gave evidence for an active APC/β-catenin pathway. An active Wnt pathway has been suggested to involve stromal expression of WISP-1. We found a strong correlation between WISP-1 and COL11A1 expression in sporadic carcinomas. Our results suggest that expression of COL11A1 in colorectal tumors could be associated with the APC/β-catenin pathway in FAP and sporadic colorectal cancer

  1. The clinical phenotype of hereditary versus sporadic prostate cancer: HPC definition revisited

    NARCIS (Netherlands)

    Cremers, R.G.H.M.; Aben, K.K.H.; Oort, I.M. van; Sedelaar, J.P.M.; Vasen, H.F.A.; Vermeulen, S.H.; Kiemeney, L.A.L.M.

    2016-01-01

    BACKGROUND: The definition of hereditary prostate cancer (HPC) is based on family history and age at onset. Intuitively, HPC is a serious subtype of prostate cancer but there are only limited data on the clinical phenotype of HPC. Here, we aimed to compare the prognosis of HPC to the sporadic form

  2. TDP-43 in Familial and Sporadic Frontotemporal Lobar Degeneration with Ubiquitin Inclusions

    NARCIS (Netherlands)

    Cairns, Nigel J.; Neumann, Manuela; Bigio, Eileen H.; Holm, Ida E.; Troost, Dirk; Hatanpaa, Kimmo J.; Foong, Chan; White, Charles L.; Schneider, Julie A.; Kretzschmar, Hans A.; Carter, Deborah; Taylor-Reinwald, Lisa; Paulsmeyer, Katherine; Strider, Jeffrey; Gitcho, Michael; Goate, Alison M.; Morris, John C.; Mishrall, Manjari; Kwong, Linda K.; Stieber, Anna; Xu, Yan; Forman, Mark S.; Trojanowski, John Q.; Lee, Virginia M.-Y.; Mackenzie, Ian R. A.

    2007-01-01

    TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) with or without motor neuron disease (MND). Thus, TDP-43 defines a novel class of neurodegenerative diseases called

  3. Neutral particle dynamics in the Alcator C-Mod tokamak

    International Nuclear Information System (INIS)

    Niemczewski, A.P.

    1995-08-01

    This thesis presents an experimental study of neutral particle dynamics in the Alcator C-Mod tokamak. The primary diagnostic used is a set of six neutral pressure gauges, including special-purpose gauges built for in situ tokamak operation. While a low main chamber neutral pressure coincides with high plasma confinement regimes, high divertor pressure is required for heat and particle flux dispersion in future devices such as ITER. Thus we examine conditions that optimize divertor compression, defined here as a divertor-to-midplane pressure ratio. We find both pressures depend primarily on the edge plasma regimes defined by the scrape-off-layer heat transport. While the maximum divertor pressure is achieved at high core plasma densities corresponding to the detached divertor state, the maximum compression is achieved in the high-recycling regime. Variations in the divertor geometry have a weaker effect on the neutral pressures. For otherwise similar plasmas the divertor pressure and compression are maximum when the strike point is at the bottom of the vertical target plate. We introduce a simple flux balance model, which allows us to explain the divertor neutral pressure across a wide range of plasma densities. In particular, high pressure sustained in the detached divertor (despite a considerable drop in the recycling source) can be explained by scattering of neutrals off the cold plasma plugging the divertor throat. Because neutrals are confined in the divertor through scattering and ionization processes (provided the mean-free-paths are much shorter than a typical escape distance) tight mechanical baffling is unnecessary. The analysis suggests that two simple structural modifications may increase the divertor compression in Alcator C-Mod by a factor of about 5. Widening the divertor throat would increase the divertor recycling source, while closing leaks in the divertor structure would eliminate a significant neutral loss mechanism. 146 refs., 82 figs., 14 tabs

  4. Neutral particle dynamics in the Alcator C-Mod tokamak

    Energy Technology Data Exchange (ETDEWEB)

    Niemczewski, Artur P. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States)

    1995-08-01

    This thesis presents an experimental study of neutral particle dynamics in the Alcator C-Mod tokamak. The primary diagnostic used is a set of six neutral pressure gauges, including special-purpose gauges built for in situ tokamak operation. While a low main chamber neutral pressure coincides with high plasma confinement regimes, high divertor pressure is required for heat and particle flux dispersion in future devices such as ITER. Thus we examine conditions that optimize divertor compression, defined here as a divertor-to-midplane pressure ratio. We find both pressures depend primarily on the edge plasma regimes defined by the scrape-off-layer heat transport. While the maximum divertor pressure is achieved at high core plasma densities corresponding to the detached divertor state, the maximum compression is achieved in the high-recycling regime. Variations in the divertor geometry have a weaker effect on the neutral pressures. For otherwise similar plasmas the divertor pressure and compression are maximum when the strike point is at the bottom of the vertical target plate. We introduce a simple flux balance model, which allows us to explain the divertor neutral pressure across a wide range of plasma densities. In particular, high pressure sustained in the detached divertor (despite a considerable drop in the recycling source) can be explained by scattering of neutrals off the cold plasma plugging the divertor throat. Because neutrals are confined in the divertor through scattering and ionization processes (provided the mean-free-paths are much shorter than a typical escape distance) tight mechanical baffling is unnecessary. The analysis suggests that two simple structural modifications may increase the divertor compression in Alcator C-Mod by a factor of about 5. Widening the divertor throat would increase the divertor recycling source, while closing leaks in the divertor structure would eliminate a significant neutral loss mechanism.

  5. Five second helium neutral beam injection using argon-frost cryopumping techniques

    International Nuclear Information System (INIS)

    Phillips, J.C.; Kellman, D.H.; Hong, R.; Kim, J.; Laughon, G.M.

    1995-10-01

    High power helium neutral beams for the heating of tokamak discharges can now be provided for 5 s by using argon cryopumping (of the helium gas) in the beamlines. A system has now been installed to deposit a layer of argon frost on the DIII-D neutral beam cryopanels, between tokamak injection pulses. The layer serves to trap helium on the cryopanels providing sufficient pumping speed for 5 s helium beam extraction. The argon frosting hardware is now present on two of four DIII-D neutral beamlines, allowing injection of up to 6 MW of helium neutral beams per discharge, with pulse lengths of up to 5 s. The argon frosting system is described, along with experimental results demonstrating its effectiveness as a method of economically extending the capabilities of cryogenic pumping panels to allow multi-second helium neutral beam injection

  6. Controlled multiple neutral planes by low elastic modulus adhesive for flexible organic photovoltaics.

    Science.gov (United States)

    Kim, Wansun; Lee, Inhwa; Yoon Kim, Dong; Yu, Youn-Yeol; Jung, Hae-Yoon; Kwon, Seyeoul; Seo Park, Weon; Kim, Taek-Soo

    2017-05-12

    To protect brittle layers in organic photovoltaic devices, the mechanical neutral plane strategy can be adopted through placing the brittle functional materials close to the neutral plane where stress and strain are zero during bending. However, previous research has been significantly limited in the location and number of materials to protect through using a single neutral plane. In this study, multiple neutral planes are generated using low elastic modulus adhesives and are controlled through quantitative analyses in order to protect the multiple brittle materials at various locations. Moreover, the protection of multiple brittle layers at various locations under both concave and convex bending directions is demonstrated. Multilayer structures that have soft adhesives are further analyzed using the finite element method analysis in order to propose guidelines for structural design when employing multiple neutral planes.

  7. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  8. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    Science.gov (United States)

    Kimmich, Okka; Bradley, David; Whelan, Robert; Mulrooney, Nicola; Reilly, Richard B; Hutchinson, Siobhan; O'Riordan, Sean; Hutchinson, Michael

    2011-09-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects 50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige's syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1/61 (2%) control subjects, 27/32 (84%) patients with adult-onset primary torsion dystonia and 32/73 (44%) unaffected relatives [siblings (20/36; 56%), offspring (11/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  9. Transmission of sporadic Creutzfeldt-Jakob disease by blood transfusion: risk factor or possible biases.

    Science.gov (United States)

    Puopolo, Maria; Ladogana, Anna; Vetrugno, Vito; Pocchiari, Maurizio

    2011-07-01

    The occurrence of transfusion transmissions of variant Creutzfeldt-Jakob disease (CJD) cases has reawakened attention to the possible similar risk posed by other forms of CJD. CJD with a definite or probable diagnosis (sporadic CJD, n = 741; genetic CJD, n = 175) and no-CJD patients with definite alternative diagnosis (n = 482) with available blood transfusion history were included in the study. The risk of exposure to blood transfusion occurring more than 10 years before disease onset and for some possible confounding factors was evaluated by calculating crude odds ratios (ORs). Variables with significant ORs in univariate analyses were included in multivariate logistic regression analyses. In the univariate model, blood transfusion occurring more than 10 years before clinical onset is 4.1-fold more frequent in sporadic CJD than in other neurologic disorders. This significance is lost when the 10-year lag time was not considered. Multivariate analyses show that the risk of developing sporadic CJD after transfusion increases (OR, 5.05) after adjusting for possible confounding factors. Analysis conducted on patients with genetic CJD did not reveal any significant risk factor associated with transfusion. This is the first case-control study showing a significant risk of transfusion occurring more than 10 years before clinical onset in sporadic CJD patients. It remains questionable whether the significance of these data is biologically plausible or the consequence of biases in the design of the study, but they counterbalance previous epidemiologic negative reports that might have overestimated the assessment of blood safety in sporadic CJD. © 2010 American Association of Blood Banks.

  10. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

    Directory of Open Access Journals (Sweden)

    Nasrine Bendjilali

    Full Text Available Brain arteriovenous malformations (BAVM are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ signaling pathway.To investigate whether copy number variations (CNVs contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 563 healthy controls, all Caucasian. Cases and controls were genotyped using the Affymetrix 6.0 array. CNVs were called using the PennCNV and Birdsuite algorithms and analyzed via segment-based and gene-based approaches. Common and rare CNVs were evaluated for association with BAVM.A CNV region on 1p36.13, containing the neuroblastoma breakpoint family, member 1 gene (NBPF1, was significantly enriched with duplications in BAVM cases compared to controls (P = 2.2×10(-9; NBPF1 was also significantly associated with BAVM in gene-based analysis using both PennCNV and Birdsuite. We experimentally validated the 1p36.13 duplication; however, the association did not replicate in an independent cohort of 184 sporadic BAVM cases and 182 controls (OR = 0.81, P = 0.8. Rare CNV analysis did not identify genes significantly associated with BAVM.We did not identify common CNVs associated with sporadic BAVM that replicated in an independent cohort. Replication in larger cohorts is required to elucidate the possible role of common or rare CNVs in BAVM pathogenesis.

  11. CpG methylation of APC promoter 1A in sporadic and familial breast cancer patients.

    Science.gov (United States)

    Debouki-Joudi, Saoussen; Trifa, Fatma; Khabir, Abdelmajid; Sellami-Boudawara, Tahia; Frikha, Mounir; Daoud, Jamel; Mokdad-Gargouri, Raja

    2017-01-01

    Tumour suppressor gene (TSG) silencing through promoter hypermethylation plays an important role in cancer initiation. The aim of this study was to assess the extent of methylation of APC gene promoter in 91 sporadic and 44 familial cases of Tunisian patients with breast cancer (BC) in. The frequency of APC promoter methylation is somewhat similar for sporadic and familial breast cancer cases, (52.1%, and 54.5% respectively). For sporadic breast cancer patients, there was a significant correlation of APC promoter hypermethylation with TNM stage (p = 0.024) and 3-year survival (p = 0.025). Regarding the hormonal status (HR), we found significant association between negativity to PR and unmethylated APC (p= 0.005) while ER and Her2/neu are not correlated. Moreover, unmethylated APC promoter is more frequent in tumours expressing at least one out the 3 proteins compared to triple negative cases (p= 0.053). On the other hand, aberrant methylation of APC was associated with tumour size (p = 0.036), lymph node (p = 0.028), distant metastasis (p = 0.031), and 3-year survival (p = 0.046) in the group of patients with familial breast cancer. Moreover, patients with sporadic breast cancer displaying the unmethylated profile have a significant prolonged overall survival compared to those with the methylated pattern of APC promoter (p log rank = 0.008). Epigenetic change at the CpG islands in the APC promoter was associated with the silence of its transcript and the loss of protein expression suggesting that this event is the main mechanism regulating the APC expression in breast cancer. In conclusion, our data showed that the loss of APC through aberrant methylation is associated with the aggressive behavior of both sporadic and familial breast cancer in Tunisian patients.

  12. Gas cell neutralizers (Fundamental principles)

    International Nuclear Information System (INIS)

    Fuehrer, B.

    1985-06-01

    Neutralizing an ion-beam of the size and energy levels involved in the neutral-particle-beam program represents a considerable extension of the state-of-the-art of neutralizer technology. Many different mediums (e.g., solid, liquid, gas, plasma, photons) can be used to strip the hydrogen ion of its extra electron. A large, multidisciplinary R and D effort will no doubt be required to sort out all of the ''pros and cons'' of these various techniques. The purpose of this particular presentation is to discuss some basic configurations and fundamental principles of the gas type of neutralizer cell. Particular emphasis is placed on the ''Gasdynamic Free-Jet'' neutralizer since this configuration has the potential of being much shorter than other type of gas cells (in the beam direction) and it could operate in nearly a continuous mode (CW) if necessary. These were important considerations in the ATSU design which is discussed in some detail in the second presentation entitled ''ATSU Point Design''

  13. Electromagnetic trapping of neutral atoms

    International Nuclear Information System (INIS)

    Metcalf, H.J.

    1986-01-01

    Cooling and trapping of neutral atoms is a new branch of applied physics that has potential for application in many areas. The authors present an introduction to laser cooling and magnetic trapping. Some basic ideas and fundamental limitations are discussed, and the first successful experiments are reviewed. Trapping a neutral object depends on the interaction between an inhomogeneous electromagnetic field and a multiple moment that results in the exchange of kinetic for potential energy. In neutral atom traps, the potential energy must be stored as internal atomic energy, resulting in two immediate and extremely important consequences. First, the atomic energy levels will necessarily shift as the atoms move in the trap, and, second, practical traps for ground state neutral atoms atr necessarily very shallow compared to thermal energy. This small depth also dictates stringent vacuum requirements because a trapped atom cannot survive a single collision with a thermal energy background gas molecule. Neutral trapping, therefore, depends on substantial cooling of a thermal atomic sample and is inextricably connected with the cooling process

  14. Measurement of plasma production and neutralization in gas neutralizers

    International Nuclear Information System (INIS)

    Maor, D.; Meron, M.; Johnson, B.; Jones, K.; Agagu, A.; Hu, B.

    1986-01-01

    In order to satisfy the need of experimental data for the designing of gas neutralizers we have started a project aimed at measuring all relevant cross sections for the charge exchange of H - , H 0 and H + projectiles, as well as the cross sections for the production of ions in the target. The expected results of these latter measurements are shown schematically

  15. Neutral currents in semileptonic reactions

    International Nuclear Information System (INIS)

    Paschos, E.A.

    1975-05-01

    The evidence for weak neutral currents is analyzed in semileptonic reactions with special emphasis on their Lorentz and internal symmetry structure. It is found that present observations are consistent with the expectations of gauge theories, but other possibilities can not be ruled out. Of particular interest in this respect is the presence of a large isoscalar component. The excitation of the Δ-resonance by neutral currents is analyzed, and pion-nucleon mass distributions are presented. Charge asymmetries sensitive to isoscalar-isovector interferences are discussed. (U.S.)

  16. Proton electroinsertion in self-assembled materials for neutralization pseudocapacitors.

    Science.gov (United States)

    Facci, Tiago; Gomes, Wellington J A S; Bravin, Bruno; Araújo, Diógenes M; Huguenin, Fritz

    2014-01-14

    We propose novel pseudocapacitors that can store energy related to the partial entropy change associated with proton concentration variations following neutralization reactions. In this situation, it is possible to obtain electrochemical energy after the complete charge/discharge cycle conducted in electrolytic solutions with different proton concentrations. To this end, we prepared modified electrodes from phosphomolybdic acid (PMA), poly(3,4-ethylenedioxythiophene/poly(styrenesulfonate) (PEDOT-PSS), and polyallylamine (PAH) by the layer-by-layer (LbL) method and investigated their electrochemical behavior, aiming to use them in these neutralization pseudocapacitors. We analyzed the potentiodynamic profile of the current density at several scan rates, to evaluate the reversibility of the proton electroinsertion process, which is crucial to maximum energy storage efficiency. On the basis of the proposed reaction mechanism and by using frequency-domain measurements and models, we determined rate constants at different potentials. Our results demonstrated that the conducting polymer affects the self-assembled matrixes, ensuring that energy storage is high (22.5 kJ mol(-1)). The process involved neutralization of a hydrochloric acid solution from pH = 1 to pH = 6, which corresponds to 40% of the neutralization enthalpy.

  17. A multi-platform investigation of midlatitude sporadic E and its ties to E–F coupling and meteor activity

    Directory of Open Access Journals (Sweden)

    J. Helmboldt

    2016-05-01

    Full Text Available This paper describes the results of a multi-platform observing campaign aimed at studying midlatitude sporadic E (Es and associated ionospheric phenomena. The assets used were the digisonde in Boulder, Colorado; the first station of the Long Wavelength Array, LWA1, in New Mexico; the transmitters of the radio station WWV in Colorado; and 61 continuously operating GPS receivers between LWA1 and WWV. The results show that southwestward-directed medium-scale traveling ionospheric disturbances (MSTIDs were substantially more prevalent when Es was detected. The amplitudes of these correlate with a plasma frequency up to about 4.5 MHz. For fp ≳ 5 MHz, the MSTIDs become significantly weaker and basically vanish above  ∼ 6.5 MHz. The prevalence of meteor trail reflections observed with LWA1 also correlates with fp up to about 4.5 MHz; above this limit, the relationship exhibits a significant turnover. The observed intensity of coherent backscatter from Es field-aligned irregularities (FAIs also correlates with inferred plasma frequency. However, this trend continues to higher frequencies with a peak near 6 MHz, followed by a much more subtle turnover. The reflected power from Es structures observed with LWA1 is significantly more correlated on spatial scales between 10 and 40 km. The magnitude of this correlation increases with fp up to  ∼  6 MHz, above which it drops. These results are consistent with the following: (1 southwestward-directed MSTIDs are produced via E–F coupling; (2 this coupling is stronger when the Es layer, seeded by meteor ablation, is more dense; (3 the coupling is substantially diminished for Es layers harboring extremely dense structures (fp ≳ 5 MHz.

  18. Can the TLR-4-Mediated Signaling Pathway Be “A Key Inflammatory Promoter for Sporadic TAA”?

    Directory of Open Access Journals (Sweden)

    Giovanni Ruvolo

    2014-01-01

    Full Text Available Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR and medial degeneration (MD occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR- 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR=14.4, P=0.0008 and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor. In consistency with these data, a significant association was observed between their combined risk genotype and sporadic TAA. Cases bearing this risk genotype showed higher systemic inflammatory mediator levels, significant inflammatory/immune infiltrate, a typical MD phenotype, lower telomere length, and positive correlations with histopatological abnormalities, hypertension, smoking, and ageing. Thus, TLR4 pathway should seem to have a key role in sporadic TAA. It might represent a potential useful tool for preventing and monitoring sporadic TAA and developing personalized treatments.

  19. Kelvin-Helmholtz instability in a weakly ionized layer

    OpenAIRE

    Shadmehri, Mohsen; Downes, Turlough P.

    2007-01-01

    We study the linear theory of Kelvin-Helmholtz instability in a layer of ions and neutrals with finite thickness. In the short wavelength limit the thickness of the layer has a negligible effect on the growing modes. However, perturbations with wavelength comparable to layer's thickness are significantly affected by the thickness of the layer. We show that the thickness of the layer has a stabilizing effect on the two dominant growing modes. Transition between the modes not only depends on th...

  20. ITER Neutral Beam Injection System

    International Nuclear Information System (INIS)

    Ohara, Yoshihiro; Tanaka, Shigeru; Akiba, Masato

    1991-03-01

    A Japanese design proposal of the ITER Neutral Beam Injection System (NBS) which is consistent with the ITER common design requirements is described. The injection system is required to deliver a neutral deuterium beam of 75MW at 1.3MeV to the reactor plasma and utilized not only for plasma heating but also for current drive and current profile control. The injection system is composed of 9 modules, each of which is designed so as to inject a 1.3MeV, 10MW neutral beam. The most important point in the design is that the injection system is based on the utilization of a cesium-seeded volume negative ion source which can produce an intense negative ion beam with high current density at a low source operating pressure. The design value of the source is based on the experimental values achieved at JAERI. The utilization of the cesium-seeded volume source is essential to the design of an efficient and compact neutral beam injection system which satisfies the ITER common design requirements. The critical components to realize this design are the 1.3MeV, 17A electrostatic accelerator and the high voltage DC acceleration power supply, whose performances must be demonstrated prior to the construction of ITER NBI system. (author)

  1. Laser cooling of neutral atoms

    International Nuclear Information System (INIS)

    1993-01-01

    A qualitative description of laser cooling of neutral atoms is given. Two of the most important mechanisms utilized in laser cooling, the so-called Doppler Cooling and Sisyphus Cooling, are reviewed. The minimum temperature reached by the atoms is derived using simple arguments. (Author) 7 refs

  2. Climate Neutral Research Campuses | NREL

    Science.gov (United States)

    the background. Set an example for climate neutrality. Use NREL's climate action planning process and more. Climate Action Planning Process Identify the best technology options for a climate action plan . Climate Action Planning Tool Identify the best technology options for a climate action plan. Technology

  3. PLT neutral beam injection systems

    International Nuclear Information System (INIS)

    Menon, M.M.; Barber, G.C.; Blue, C.W.

    1979-01-01

    A brief description of the Princeton Large Torus (PLT) neutral beam injection system is given and its performance characteristics are outlined. A detailed operational procedure is included, as are some tips on troubleshooting. Proper operation of the source is shown to be a crucial factor in system performance

  4. Neutral Models with Generalised Speciation

    NARCIS (Netherlands)

    Haegeman, Bart; Etienne, Rampal S.

    Hubbell's neutral theory claims that ecological patterns such as species abundance distributions can be explained by a stochastic model based on simple assumptions. One of these assumptions, the point mutation assumption, states that every individual has the same probability to speciate. Etienne et

  5. Multimegawatt neutral beams for tokamaks

    International Nuclear Information System (INIS)

    Kunkel, W.B.

    1979-03-01

    Most of the large magnetic confinement experiments today and in the near future use high-power neutral-beam injectors to heat the plasma. This review briefly describes this remarkable technique and summarizes recent results as well as near term expectations. Progress has been so encouraging that it seems probable that tokamaks will achieve scientific breakeven before 1990

  6. Heavy neutral leptons at FASER

    Science.gov (United States)

    Kling, Felix; Trojanowski, Sebastian

    2018-05-01

    We study the prospects for discovering heavy neutral leptons at Forward Search Experiment (FASER), the newly proposed detector at the LHC. Previous studies showed that a relatively small detector with ˜10 m length and ≲1 m2 cross sectional area can probe large unconstrained parts of parameter space for dark photons and dark Higgs bosons. In this work, we show that FASER will also be sensitive to heavy neutral leptons that have mixing angles with the active neutrinos that are up to an order of magnitude lower than current bounds. In particular, this is true for heavy neutral leptons produced dominantly in B -meson decays, in which case FASER's discovery potential is comparable to the proposed SHiP detector. We also illustrate how the search for heavy neutral leptons at FASER will be complementary to ongoing searches in high-pT experiments at the LHC and can shed light on the nature of dark matter and the process of baryogenesis in the early Universe.

  7. Money neutrality: Rethinking the myth

    Directory of Open Access Journals (Sweden)

    Issaoui Fakhri

    2015-01-01

    Full Text Available Considered as an axiomatic basis of classical, neoclassical, and monetarist theories, the long-run money neutrality assumption does not always seem to be verified. Indeed, in our view, the money, in the sense of M2, can constitute a long-run channel of growth transmission. Thus, this paper examines the long-term relationship among money supply (M2, income (GDP, and prices (CPI. The subprime crisis in 2007 has shown that the demand for money does not only meet motives of transaction, precaution, and speculation but also of fictional or quasi-fictional future demands due to the fact that they are created without real counterparts. The capacity of production systems in developed countries to respond to increases in money supply by creating more wealth, involves the assumption of money neutrality in the long-run. However, in developing countries, the excess of money supply may lead to inflation trends. The present study has confirmed the long-term non-neutrality of money supply in the USA, and its neutrality in Gabon and Morocco.

  8. The manipulation of neutral particles

    International Nuclear Information System (INIS)

    Chu, S.

    1998-01-01

    The article is a translation of the lecture delivered on the occasion of the 1997 Nobel Prize awarding ceremony. The author's personal contribution to the discovery of laser cooling and trapping of neutral atoms is described, and applications of this phenomenon in atomic physics are highlighted. The article is completed by Mr. Steven Chu's autobiography

  9. Net Neutrality in the Netherlands

    NARCIS (Netherlands)

    van Eijk, N.

    2014-01-01

    The Netherlands is among the first countries that have put specific net neutrality standards in place. The decision to implement specific regulation was influenced by at least three factors. The first was the prevailing social and academic debate, partly due to developments in the United States. The

  10. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

    Energy Technology Data Exchange (ETDEWEB)

    Urbach, H.; Solymosi, L. [Department of Neuroradiology, University of Wuerzburg (Germany); Klisch, J.; Brechtelsbauer, D. [Department of Neuroradiology, University of Bonn, Bonn (Germany); Wolf, H.K. [Department of Neuropathology, University of Bonn, Bonn (Germany); Gass, S. [Department of Neurology, University of Bonn, Bonn (Germany)

    1998-02-01

    To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.) With 5 figs., 2 tabs., 23 refs.

  11. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

    International Nuclear Information System (INIS)

    Urbach, H.; Solymosi, L.; Klisch, J.; Brechtelsbauer, D.; Wolf, H.K.; Gass, S.

    1998-01-01

    To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.)

  12. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

    Directory of Open Access Journals (Sweden)

    Hanae Takatsuki, PhD

    2016-10-01

    Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

  13. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

    Science.gov (United States)

    Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

    2016-10-01

    Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  14. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

    Science.gov (United States)

    Kabashi, Edor; Valdmanis, Paul N; Dion, Patrick; Spiegelman, Dan; McConkey, Brendan J; Vande Velde, Christine; Bouchard, Jean-Pierre; Lacomblez, Lucette; Pochigaeva, Ksenia; Salachas, Francois; Pradat, Pierre-Francois; Camu, William; Meininger, Vincent; Dupre, Nicolas; Rouleau, Guy A

    2008-05-01

    Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

  15. BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

    Directory of Open Access Journals (Sweden)

    Ainur R. Akilzhanova

    2013-05-01

    Full Text Available Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05; higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. Conclusions: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 

  16. Earth's influx of different populations of sporadic meteoroids from photographic and television data

    International Nuclear Information System (INIS)

    Ceplecha, Z.

    1988-01-01

    Precise photographic and television double- and multi-station data on 3624 sporadic meteors in the mass range from 2 x 10 -5 grams to 2 x 10 7 grams form the basis of this paper. The applied classification criteria and procedures are defined and described. A survey of 7 different populations of sporadic meteoroids known so far is presented. The total numbers and masses of meteoroids as a function of mass are given for individual groups and for all sporadic meteors. The absolute calibration of the influx to the Earth was carried out by comparison with the results of Halliday et al. (1984). The comparison with the visual and cratering data revealed good agreement in the narrow ''visual'' interval of masses, and disagreement in the extrapolated parts of the visual and cratering flux curves. The slope of the cumulative number curve for the meteorite-dropping fireballs (type I) with masses larger than 1 kg was found as -0.69 in perfect agreement with the results of Halliday et al. (1984). The final mass scale derived in this paper is situated between the scale of McCrosky and the scale of Halliday. The relative significance of the different groups of meteoroids changes with the mass quite dramatically. The total influx of sporadic meteoroids in the mass interval of 12 orders from 2 x 10 7 to 2 x 10 -5 grams resulted in 5 x 10 9 grams per year for the entire Earth's surface. Most of this mass comes in the form of larger meteoroids. Bulk densities and ablation coefficient are presented for the individual meteor groups depending on different ablation models of several authors and some extreme concepts of this problem are discussed. (author). 3 figs., 6 tabs., 38 refs

  17. Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan

    Directory of Open Access Journals (Sweden)

    Li Ling-Hui

    2011-06-01

    Full Text Available Abstract Background Colorectal cancer (CRC is a major health concern worldwide, and recently becomes the most common cancer in Asia. The case collection of this study is one of the largest sets of CRC in Asia, and serves as representative data for investigating genomic differences between ethnic populations. We took comprehensive and high-resolution approaches to compare the clinicopathologic and genomic profiles of microsatellite instability (MSI vs. microsatellite stability (MSS in Taiwanese sporadic CRCs. Methods 1,173 CRC tumors were collected from the Taiwan population, and sequencing-based microsatellite typing assay was used to determine MSI and MSS. Genome-wide SNP array was used to detect CN alterations in 16 MSI-H and 13 MSS CRCs and CN variations in 424 general controls. Gene expression array was used to evaluate the effects of CN alterations, and quantitative PCR methods were used to replicate the findings in independent clinical samples. Results These 1,173 CRC tumors can be classified into 75 high-frequency MSI (MSI-H (6.4%, 96 low-frequency MSI (8.2% and 1,002 MSS (85.4%. Of the 75 MSI-H tumors, 22 had a BRAF mutation and 51 showed MLH1 promoter hypermethylation. There were distinctive differences in the extent of CN alterations between CRC MSS and MSI-H subtypes (300 Mb vs. 42 Mb per genome, p-value Conclusions Sporadic CRCs with MSI-H displayed distinguishable clinicopathologic features, which differ from those of MSS. Genomic profiling of the two types of sporadic CRCs revealed significant differences in the extent and distribution of CN alterations in the cancer genome. More than half of expressed genes showing CN differences can directly contribute to their expressional diversities, and the biological functions of the genes associated with CN changes in sporadic CRCs warrant further investigation to establish their possible clinical implications.

  18. Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    S Birla

    2016-01-01

    Full Text Available Background and Objectives: Primary hyperparathyroidism (PHPT can occur either as a sporadic case or in association with syndromes such as multiple endocrine neoplasia. Multiple endocrine neoplasia type 1 (MEN1 is a rare autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 amino acid long tumor suppressor protein “menin.” We report here the results of MEN1 screening in 31 patients diagnosed with sporadic PHPT. Materials and Methods: Diagnosis of sporadic PHPT was made when blood urea and serum creatinine were normal, serum parathyroid hormone was high, and parathyroid enlargement could be localized on ultrasound and/or parathyroid scan. A total of 31 patients and 50 healthy volunteers were recruited for molecular analysis after taking informed consent. Results: Major symptoms at presentation were bone pain, fatigue, muscle weakness, and renal stones. Molecular genetic analysis revealed the presence of two novel intronic variations, c. 913-79T>A and c. 784-129T>A which by human splicing finder are predicted to cause potential alteration of splicing by either activating an intronic cryptic acceptor site or converting a conserved exonic splicing silencer sequence to an exonic splicing enhancer site. Apart from these, two reported polymorphisms rs144677807 and rs669976 were seen only in patients and none of the controls. Other reported polymorphisms rs2071313 and rs654440 were identified both in controls and patients. Conclusions: This is the first study of MEN1 gene screening in sporadic PHPT in India reporting on the clinical and genetic findings, wherein two novel intronic variations c. 913-79T>A and c. 784-129T>A were identified showing their possible role in disease causation.

  19. Association of apolipoprotein E allele {epsilon}4 with late-onset sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lucotte, G.; David, F.; Berriche, S. [Regional Center of Neurogenetics, Reims (France)] [and others

    1994-09-15

    Apolipoprotein E, type {epsilon}4 allele (ApoE {epsilon}4), is associated with late-onset sporadic Alzheimer`s disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for {epsilon}4 allele frequencies). These data support the involvement of ApoE {epsilon}4 allele as a very important risk factor for the clinical expression of AD. 22 refs., 1 fig., 3 tabs.

  20. Five second helium neutral beam injection using argon-frost cryopumping techniques

    International Nuclear Information System (INIS)

    Phillips, J.C.; Kellman, D.H.; Hong, R.; Kim, J.; Laughon, G.M.

    1995-01-01

    High power helium neutral beams for the heating of tokamak discharges can now be provided for 5 s by using argon cryopumping (of the helium gas) in the beamlines. The DIII-D neutral beam system has routinely provided up to 20 MW of deuterium neutral beam heating in support of experiments on the DIII-D tokamak. Operation of neutral beams with helium has historically presented a problem in that pulse lengths have been limited to 500 ms due to reliance solely on volume pumping of the helium gas. Helium is not condensed on the cryopanels. A system has now been installed to deposit a layer of argon frost on the DIII-D neutral beam cryopanels, between tokamak injection pulses. The layer serves to trap helium on the cryopanels providing sufficient pumping speed for 5 s helium beam extraction. The argon frosting hardware is now present on two of four DIII-D neutral beamlines, allowing injection of up to 6 MW of helium neutral beams per discharge, with pulse lengths of up to 5 s. The argon frosting system is described, along with experimental results demonstrating its effectiveness as a method of economically extending the capabilities of cryogenic pumping panels to allow multi-second helium neutral beam injection

  1. The localization of facial motor impairment in sporadic Möbius syndrome.

    Science.gov (United States)

    Cattaneo, L; Chierici, E; Bianchi, B; Sesenna, E; Pavesi, G

    2006-06-27

    To investigate the neurophysiologic aspects of facial motor control in patients with sporadic Möbius syndrome defined as nonprogressive congenital facial and abducens palsy. The authors assessed 24 patients with sporadic Möbius syndrome by performing a complete clinical examination and neurophysiologic tests including facial nerve conduction studies, needle electromyography examination of facial muscles, and recording of the blink reflex and of the trigeminofacial inhibitory reflex. Two distinct groups of patients were identified according to neurophysiologic testing. The first group was characterized by increased facial distal motor latencies (DMLs) and poor recruitment of small and polyphasic motor unit action potentials (MUAPs). The second group was characterized by normal facial DMLs and neuropathic MUAPs. It is hypothesized that in the first group, the disorder is due to a rhombencephalic maldevelopment with selective sparing of small-size MUs, and in the second group, the disorder is related to an acquired nervous injury during intrauterine life, with subsequent neurogenic remodeling of MUs. The trigeminofacial reflexes showed that in most subjects of both groups, the functional impairment of facial movements was caused by a nuclear or peripheral site of lesion, with little evidence of brainstem interneuronal involvement. Two different neurophysiologically defined phenotypes can be distinguished in sporadic Möbius syndrome, with different pathogenetic implications.

  2. Measuring sporadic gastrointestinal illness associated with drinking water - an overview of methodologies.

    Science.gov (United States)

    Bylund, John; Toljander, Jonas; Lysén, Maria; Rasti, Niloofar; Engqvist, Jannes; Simonsson, Magnus

    2017-06-01

    There is an increasing awareness that drinking water contributes to sporadic gastrointestinal illness (GI) in high income countries of the northern hemisphere. A literature search was conducted in order to review: (1) methods used for investigating the effects of public drinking water on GI; (2) evidence of possible dose-response relationship between sporadic GI and drinking water consumption; and (3) association between sporadic GI and factors affecting drinking water quality. Seventy-four articles were selected, key findings and information gaps were identified. In-home intervention studies have only been conducted in areas using surface water sources and intervention studies in communities supplied by ground water are therefore needed. Community-wide intervention studies may constitute a cost-effective alternative to in-home intervention studies. Proxy data that correlate with GI in the community can be used for detecting changes in the incidence of GI. Proxy data can, however, not be used for measuring the prevalence of illness. Local conditions affecting water safety may vary greatly, making direct comparisons between studies difficult unless sufficient knowledge about these conditions is acquired. Drinking water in high-income countries contributes to endemic levels of GI and there are public health benefits for further improvements of drinking water safety.

  3. Multiple imputation by chained equations for systematically and sporadically missing multilevel data.

    Science.gov (United States)

    Resche-Rigon, Matthieu; White, Ian R

    2018-06-01

    In multilevel settings such as individual participant data meta-analysis, a variable is 'systematically missing' if it is wholly missing in some clusters and 'sporadically missing' if it is partly missing in some clusters. Previously proposed methods to impute incomplete multilevel data handle either systematically or sporadically missing data, but frequently both patterns are observed. We describe a new multiple imputation by chained equations (MICE) algorithm for multilevel data with arbitrary patterns of systematically and sporadically missing variables. The algorithm is described for multilevel normal data but can easily be extended for other variable types. We first propose two methods for imputing a single incomplete variable: an extension of an existing method and a new two-stage method which conveniently allows for heteroscedastic data. We then discuss the difficulties of imputing missing values in several variables in multilevel data using MICE, and show that even the simplest joint multilevel model implies conditional models which involve cluster means and heteroscedasticity. However, a simulation study finds that the proposed methods can be successfully combined in a multilevel MICE procedure, even when cluster means are not included in the imputation models.

  4. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lannfelt, L; Lilius, L; Viitanen, M; Winblad, B; Basun, H [Huddinge Hospital, Karolinska Institute, Dept. of Geriatric Medicine, (Sweden); Houlden, H; Rossor, M [St. Mary` s Hospital, Dept. of Neurology, Medical School, London (United Kingdom); Hardy, J [University of South Florida, Suncoast Alzheimer` s Disease Research Labs, Department of Psychiatry, Tampa (United States)

    1995-02-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer`s disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer`s disease families, as it is closely linked to the gene. Most cases of Alzheimer`s disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer`s disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.).

  5. Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.

    Science.gov (United States)

    Tischkowitz, M D; Morgan, N V; Grimwade, D; Eddy, C; Ball, S; Vorechovsky, I; Langabeer, S; Stöger, R; Hodgson, S V; Mathew, C G

    2004-03-01

    Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA,C,D2,E,F,G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (PFANCA in the AML samples with FANCA deletions did not detect mutations in the second allele and there was no evidence of epigenetic silencing by hypermethylation. However, real-time quantitative PCR analysis in these samples showed reduced expression of FANCA compared to nondeleted AML samples and to controls. These findings suggest that gene deletions and reduced expression of FANCA may be involved in the promotion of genetic instability in a subset of cases of sporadic AML.

  6. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

    Science.gov (United States)

    Moura, M M; Cavaco, B M; Pinto, A E; Domingues, R; Santos, J R; Cid, M O; Bugalho, M J; Leite, V

    2009-01-01

    Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10–16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. PMID:19401695

  7. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

    Directory of Open Access Journals (Sweden)

    Mafalda Costa Neves

    2015-01-01

    Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

  8. Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer

    DEFF Research Database (Denmark)

    Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei

    2017-01-01

    BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas...... was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p expression in polyps (p ..., no differences were observed when sporadic colorectal carcinomas were compared to normal mucosa tissues. These findings suggest an association of the ERβ isoform variants in individuals affected by germline mutations of the APC gene. Progressively decreased expression of ERβ was found in polyps at early stages...

  9. Neutral atom traps of radioactives

    International Nuclear Information System (INIS)

    Behr, J.A.

    2003-01-01

    Neutral atoms trapped with modern laser cooling techniques offer the promise of improving several broad classes of experiments with radioactive isotopes. In nuclear β decay, neutrino spectroscopy from beta-recoil coincidences, along with highly polarized samples, enable experiments to search for non-Standard Model interactions, test whether parity symmetry is maximally violated, and search for new sources of time reversal violation. Ongoing efforts at TRIUMF, Los Alamos and Berkeley will be highlighted. The traps also offer bright sources for Doppler-free spectroscopy, particularly in high-Z atoms where precision measurements could measure the strength of weak neutral nucleon-nucleon and electron-nucleon interactions. Physics with francium atoms has been vigorously pursued at Stony Brook. Several facilities plan work with radioactive atom traps; concrete plans and efforts at KVI Groningen and Legnaro will be among those summarized. Contributions to the multidisciplinary field of trace analysis will be left up to other presenters

  10. Neutral atom traps of radioactives

    CERN Document Server

    Behr, J A

    2003-01-01

    Neutral atoms trapped with modern laser cooling techniques offer the promise of improving several broad classes of experiments with radioactive isotopes. In nuclear beta decay, neutrino spectroscopy from beta-recoil coincidences, along with highly polarized samples, enable experiments to search for non-Standard Model interactions, test whether parity symmetry is maximally violated, and search for new sources of time reversal violation. Ongoing efforts at TRIUMF, Los Alamos and Berkeley will be highlighted. The traps also offer bright sources for Doppler-free spectroscopy, particularly in high-Z atoms where precision measurements could measure the strength of weak neutral nucleon-nucleon and electron-nucleon interactions. Physics with francium atoms has been vigorously pursued at Stony Brook. Several facilities plan work with radioactive atom traps; concrete plans and efforts at KVI Groningen and Legnaro will be among those summarized. Contributions to the multidisciplinary field of trace analysis will be left...

  11. Neutral particles identification at LHCb

    CERN Multimedia

    Quintana, Boris Julien

    2018-01-01

    Important analyses of the core LHCb physics program rely on calorimetry to identify photons, high-energy neutral pions and electrons. For this purpose, the LHCb calorimeter system is composed of a scintillating pad plane, a preshower detector, an electromagnetic and a hadronic sampling calorimeters. The interaction of a given particle in these detectors leaves a specific signature. This is exploited for particle identification (PID) by combining calorimeters and tracking information into multi-variate classifiers. In this contribution, we focus on the identification of photons against high-energy neutral pion and hadronic backgrounds. Performance on Run 1 data will be shown. Small discrepancies with simulation predictions are then discussed, with special emphasis on the methods to correctly estimate PID cut efficiencies by means of large calibration samples of abundant beauty and charm decays to final states with photons. Finally, the technical aspects of the collection of these samples in Run 2 are presented...

  12. Electromagnetic disturbance neutralizing radiation detector

    International Nuclear Information System (INIS)

    Gripentog, W.G.

    1975-01-01

    A radiation detector of the Neher-White type is described which automatically neutralizes induced negative charges on the electrometer tube control grid which shut off the electrometer tube. The detector includes means for establishing a voltage of one polarity in response to plate current and voltage of opposite polarity in response to an absence of plate current and means for connecting the control grid to a reference potential for draining the negative charge in response to the voltage of opposite polarity. (author)

  13. Allele doses of apolipoprotein E type {epsilon}4 in sporadic late-onset Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lucotte, G.; Aouizerate, A.; Gerard, N. [Regional Center of Neurogenetics, Paris (France)] [and others

    1995-12-18

    Apoliprotein E, type {epsilon}4 allele (ApoE-{epsilon}4) is associated with late-onset sporadic Alzheimer`s disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-{epsilon}4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. 26 refs., 2 figs., 1 tab.

  14. Steady state neutral beam injector

    International Nuclear Information System (INIS)

    Mattoo, S.K.; Bandyopadhyay, M.; Baruah, U.K.; Bisai, N.; Chakbraborty, A.K.; Chakrapani, Ch.; Jana, M.R.; Bajpai, M.; Jaykumar, P.K.; Patel, D.; Patel, G.; Patel, P.J.; Prahlad, V.; Rao, N.V.M.; Rotti, C.; Singh, N.P.; Sridhar, B.

    2000-01-01

    Learning from operational reliability of neutral beam injectors in particular and various heating schemes including RF in general on TFTR, JET, JT-60, it has become clear that neutral beam injectors may find a greater role assigned to them for maintaining the plasma in steady state devices under construction. Many technological solutions, integrated in the present day generation of injectors have given rise to capability of producing multimegawatt power at many tens of kV. They have already operated for integrated time >10 5 S without deterioration in the performance. However, a new generation of injectors for steady state devices have to address to some basic issues. They stem from material erosion under particle bombardment, heat transfer > 10 MW/m 2 , frequent regeneration of cryopanels, inertial power supplies, data acquisition and control of large volume of data. Some of these engineering issues have been addressed to in the proposed neutral beam injector for SST-1 at our institute; the remaining shall have to wait for the inputs of the database generated from the actual experience with steady state injectors. (author)

  15. Neutral beams for magnetic fusion

    International Nuclear Information System (INIS)

    Hooper, B.

    1977-01-01

    Significant advances in forming energetic beams of neutral hydrogen and deuterium atoms have led to a breakthrough in magnetic fusion: neutral beams are now heating plasmas to thermonuclear temperatures, here at LLL and at other laboratories. For example, in our 2XIIB experiment we have injected a 500-A-equivalent current of neutral deuterium atoms at an average energy of 18 keV, producing a dense plasma (10 14 particles/cm 3 ) at thermonuclear energy (14 keV or 160 million kelvins). Currently, LLL and LBL are developing beam energies in the 80- to 120-keV range for our upcoming MFTF experiment, for the TFTR tokamak experiment at Princeton, and for the Doublet III tokamak experiment at General Atomic. These results increase our long-range prospects of producing high-intensity beams of energies in the hundreds or even thousands of kilo-electron-volts, providing us with optimistic extrapolations for realizing power-producing fusion reactors

  16. Case-Control Studies of Sporadic Enteric Infections: A Review and Discussion of Studies Conducted Internationally from 1990 to 2009

    Science.gov (United States)

    Fullerton, Kathleen E.; Scallan, Elaine; Kirk, Martyn D.; Mahon, Barbara E.; Angulo, Frederick J.; de Valk, Henriette; van Pelt, Wilfrid; Gauci, Charmaine; Hauri, Anja M.; Majowicz, Shannon; O’Brien, Sarah J.

    2015-01-01

    Epidemiologists have used case-control studies to investigate enteric disease outbreaks for many decades. Increasingly, case-control studies are also used to investigate risk factors for sporadic (not outbreak-associated) disease. While the same basic approach is used, there are important differences between outbreak and sporadic disease settings that need to be considered in the design and implementation of the case-control study for sporadic disease. Through the International Collaboration on Enteric Disease “Burden of Illness” Studies (the International Collaboration), we reviewed 79 case-control studies of sporadic enteric infections caused by nine pathogens that were conducted in 22 countries and published from 1990 through to 2009. We highlight important methodological and study design issues (including case definition, control selection, and exposure assessment) and discuss how approaches to the study of sporadic enteric disease have changed over the last 20 years (e.g., making use of more sensitive case definitions, databases of controls, and computer-assisted interviewing). As our understanding of sporadic enteric infections grows, methods and topics for case-control studies are expected to continue to evolve; for example, advances in understanding of the role of immunity can be used to improve control selection, the apparent protective effects of certain foods can be further explored, and case-control studies can be used to provide population-based measures of the burden of disease. PMID:22443481

  17. High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

    Science.gov (United States)

    Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

    2012-12-01

    Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

  18. Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

    Science.gov (United States)

    Liu, Yong; Cao, Yu; Li, Yaxiong; Lei, Dongyun; Li, Lin; Hou, Zong Liu; Han, Shen; Meng, Mingyao; Shi, Jianlin; Zhang, Yayong; Wang, Yi; Niu, Zhaoyi; Xie, Yanhua; Xiao, Benshan; Wang, Yuanfei; Li, Xiao; Yang, Lirong; Wang, Wenju; Jiang, Lihong

    2018-03-05

    BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (PASD (PASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

  19. Plasma/Neutral-Beam Etching Apparatus

    Science.gov (United States)

    Langer, William; Cohen, Samuel; Cuthbertson, John; Manos, Dennis; Motley, Robert

    1989-01-01

    Energies of neutral particles controllable. Apparatus developed to produce intense beams of reactant atoms for simulating low-Earth-orbit oxygen erosion, for studying beam-gas collisions, and for etching semiconductor substrates. Neutral beam formed by neutralization and reflection of accelerated plasma on metal plate. Plasma ejected from coaxial plasma gun toward neutralizing plate, where turned into beam of atoms or molecules and aimed at substrate to be etched.

  20. The Neutral Interest Rate: Estimates for Chile

    OpenAIRE

    Rodrigo Fuentes S; Fabián Gredig U.

    2008-01-01

    To estimate the neutral real interest rate for Chile, we use a variety of methods that can be classified into three categories: those derived from economic theory, the neutral rate implicit in financial assets, and statistical procedures using macroeconomic data. We conclude that the neutral rate is not constant over time, but it is closely related with—though not equivalent to—the potential GDP growth rate. The application of the different methods yields fairly similar results. The neutral r...

  1. Modeling neutralization kinetics of HIV by broadly neutralizing monoclonal antibodies in genital secretions coating the cervicovaginal mucosa.

    Directory of Open Access Journals (Sweden)

    Scott A McKinley

    Full Text Available Eliciting broadly neutralizing antibodies (bnAb in cervicovaginal mucus (CVM represents a promising "first line of defense" strategy to reduce vaginal HIV transmission. However, it remains unclear what levels of bnAb must be present in CVM to effectively reduce infection. We approached this complex question by modeling the dynamic tally of bnAb coverage on HIV. This analysis introduces a critical, timescale-dependent competition: to protect, bnAb must accumulate at sufficient stoichiometry to neutralize HIV faster than virions penetrate CVM and reach target cells. We developed a model that incorporates concentrations and diffusivities of HIV and bnAb in semen and CVM, kinetic rates for binding (kon and unbinding (koff of select bnAb, and physiologically relevant thicknesses of CVM and semen layers. Comprehensive model simulations lead to robust conclusions about neutralization kinetics in CVM. First, due to the limited time virions in semen need to penetrate CVM, substantially greater bnAb concentrations than in vitro estimates must be present in CVM to neutralize HIV. Second, the model predicts that bnAb with more rapid kon, almost independent of koff, should offer greater neutralization potency in vivo. These findings suggest the fastest arriving virions at target cells present the greatest likelihood of infection. It also implies the marked improvements in in vitro neutralization potency of many recently discovered bnAb may not translate to comparable reduction in the bnAb dose needed to confer protection against initial vaginal infections. Our modeling framework offers a valuable tool to gaining quantitative insights into the dynamics of mucosal immunity against HIV and other infectious diseases.

  2. Modeling neutralization kinetics of HIV by broadly neutralizing monoclonal antibodies in genital secretions coating the cervicovaginal mucosa.

    Science.gov (United States)

    McKinley, Scott A; Chen, Alex; Shi, Feng; Wang, Simi; Mucha, Peter J; Forest, M Gregory; Lai, Samuel K

    2014-01-01

    Eliciting broadly neutralizing antibodies (bnAb) in cervicovaginal mucus (CVM) represents a promising "first line of defense" strategy to reduce vaginal HIV transmission. However, it remains unclear what levels of bnAb must be present in CVM to effectively reduce infection. We approached this complex question by modeling the dynamic tally of bnAb coverage on HIV. This analysis introduces a critical, timescale-dependent competition: to protect, bnAb must accumulate at sufficient stoichiometry to neutralize HIV faster than virions penetrate CVM and reach target cells. We developed a model that incorporates concentrations and diffusivities of HIV and bnAb in semen and CVM, kinetic rates for binding (kon) and unbinding (koff) of select bnAb, and physiologically relevant thicknesses of CVM and semen layers. Comprehensive model simulations lead to robust conclusions about neutralization kinetics in CVM. First, due to the limited time virions in semen need to penetrate CVM, substantially greater bnAb concentrations than in vitro estimates must be present in CVM to neutralize HIV. Second, the model predicts that bnAb with more rapid kon, almost independent of koff, should offer greater neutralization potency in vivo. These findings suggest the fastest arriving virions at target cells present the greatest likelihood of infection. It also implies the marked improvements in in vitro neutralization potency of many recently discovered bnAb may not translate to comparable reduction in the bnAb dose needed to confer protection against initial vaginal infections. Our modeling framework offers a valuable tool to gaining quantitative insights into the dynamics of mucosal immunity against HIV and other infectious diseases.

  3. Neutrality in mediation: an ambiguous ethical value

    OpenAIRE

    Bailey, Paul

    2014-01-01

    Mediator neutrality would appear, by definition, to be a necessary and required ethical principle for all mediators to practice. But what is meant by neutrality in mediation? Is it practically possible to be completely neutral between parties in mediation while at the same time being fair to both of them? This paper attempts to answer these two questions.

  4. Ion-beam Plasma Neutralization Interaction Images

    International Nuclear Information System (INIS)

    Igor D. Kaganovich; Edward Startsev; S. Klasky; Ronald C. Davidson

    2002-04-01

    Neutralization of the ion beam charge and current is an important scientific issue for many practical applications. The process of ion beam charge and current neutralization is complex because the excitation of nonlinear plasma waves may occur. Computer simulation images of plasma neutralization of the ion beam pulse are presented

  5. Ion-beam Plasma Neutralization Interaction Images

    Energy Technology Data Exchange (ETDEWEB)

    Igor D. Kaganovich; Edward Startsev; S. Klasky; Ronald C. Davidson

    2002-04-09

    Neutralization of the ion beam charge and current is an important scientific issue for many practical applications. The process of ion beam charge and current neutralization is complex because the excitation of nonlinear plasma waves may occur. Computer simulation images of plasma neutralization of the ion beam pulse are presented.

  6. The Net Neutrality Debate: The Basics

    Science.gov (United States)

    Greenfield, Rich

    2006-01-01

    Rich Greenfield examines the basics of today's net neutrality debate that is likely to be an ongoing issue for society. Greenfield states the problems inherent in the definition of "net neutrality" used by Common Cause: "Network neutrality is the principle that Internet users should be able to access any web content they choose and…

  7. Influence of Poly(ethylene glycol) Degradation on Voiding Sporadically Occurring in Solder Joints with Electroplated Cu

    Science.gov (United States)

    Wafula, F.; Yin, L.; Borgesen, P.; Andala, D.; Dimitrov, N.

    2012-07-01

    This paper presents a comprehensive study of the effect of poly(ethylene glycol) (PEG) degradation on the void formation known to take place sporadically at the interface between electroplated Cu and Pb-free solder. Thorough chemical analysis of our plating solution, carried out at different times of the deposition process by matrix-assisted laser desorption ionization time-of-flight mass spectroscopy, reveals a dramatic shift in the peaks to lower mass range with time. Scanning electron microscopy cross-sectional images of solder joints with Cu samples that have been plated at different times in the course of solution aging show a decrease in void formation. A decreasing magnitude of the deposition overpotential also seen during aging suggests that, breaking down to lower-molecular-weight fragments, PEG loses its suppression effect and likely has lower impact on the voiding propensity. This indirect correlation is confirmed further by the use of plating solutions containing PEG with preselected molecular weight. We also report on the effect of the surface area-to-solution volume ratio on PEG degradation studied by comparative experiments performed in a 50-mL bath with a rotating disc electrode and in a larger cell (Hull cell) with volume of 267 mL. The results show that, at fixed charge per unit volume, PEG degrades at a greatly accelerated rate in the Hull cell featuring higher electrode surface-to-solution volume ratio. Analysis of solder joints with accordingly grown Cu layers suggests that the voiding decreases faster with the accelerated rate of PEG degradation.

  8. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Ulrike Esslinger

    Full Text Available Dilated cardiomyopathy (DCM is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS to assess the contribution of missense variants to sporadic DCM.116,855 single nucleotide variants (SNVs were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01. The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01 demonstrated significant association for TTN variants only (P = 0.0085. All candidate genes but one (SLC39A8 exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033 or common (n = 36, P = 0.019 variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.

  9. Relationship between blood harmane and harmine concentrations in familial essential tremor, sporadic essential tremor and controls.

    Science.gov (United States)

    Louis, Elan D; Jiang, Wendy; Gerbin, Marina; Mullaney, Mary M; Zheng, Wei

    2010-12-01

    Harmane, a potent tremor-producing β-carboline alkaloid, may play a role in the etiology of essential tremor (ET). Blood harmane concentrations are elevated in ET cases compared with controls yet the basis for this elevation remains unknown. Decreased metabolic conversion (harmane to harmine) is one possible explanation. Using a sample of >500 individuals, we hypothesized that defective metabolic conversion of harmane to harmine might underlie the observed elevated harmane concentration in ET, and therefore expected to find a higher harmane to harmine ratio in familial ET than in sporadic ET or controls. Blood harmane and harmine concentrations were quantified by high performance liquid chromatography. There were 78 familial ET cases, 187 sporadic ET cases, and 276 controls. Blood harmane and harmine concentrations were correlated with one another (Spearman's r=0.24, p<0.001). The mean (±SD) harmane/harmine ratio=23.4±90.9 (range=0.1-987.5). The harmane/harmine ratio was highest in familial ET (46.7±140.4), intermediate in sporadic ET (28.3±108.1), and lowest in controls (13.5±50.3) (p=0.03). In familial ET cases, there was no association between this ratio and tremor severity (Spearman's r=0.08, p=0.48) or tremor duration (Spearman's r=0.14, p=0.24). The basis for the elevated blood harmane concentration, particularly in familial ET, is not known, although the current findings (highest harmane/harmine ratio in familial ET cases) lends support to the possibility that it could be the result of a genetically-driven reduction in harmane metabolism. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. Transarterial ethanol ablation for sporadic and non-hemorrhaging angiomyolipoma in the kidney

    International Nuclear Information System (INIS)

    Takebayashi, Shigeo; Horikawa, Ayumi; Arai, Mito; Iso, Shinichiroh; Noguchi, Kazumi

    2009-01-01

    Purpose: We evaluated the efficacy and side effects of transarterial ethanol ablation in sporadic and non-hemorrhaging angiomyolipomas (AMLs) in the kidney. Material and Methods: A total of 10 patients with solitary and sporadic AMLs underwent selective transarterial absolute ethanol ablation for prophylaxis against hemorrhage. We confirmed the ratio areas of tumor vessel on angiogram, those of infraction on post-ablation computed tomography (CT) and those of tumor reduction in a 3-, 6- and 12-month follow-up CT. Results: Once or twice a single infusion of 1 or 2 ml absolute ethanol achieved in a total occlusion of 22 feeding arteries which consisted of 7 proximal interlobar arteries, 12 distal interlobar arteries and 3 renal capsular arteries. Nontarget occlusion did not occur by ethanol reflux in any cases but occurred causing spasms provoked by repeated inflation and deflation of the balloon in one case. Total occlusion of tumor vessels was observed in 7 patients and 92-95% occlusion in 3. Ethanol ablation produced 1.8-22.5% (mean 8.4 ± 6.8%) areas of infarctions but the outcome was not serious in all cases. Mean percentage areas of tumor reduction were 29.4 ± 10.6% in a 3-month follow-up, 45.7 ± 11.9% in a 6-month and 59.3 ± 11.5% in a 12-month follow-up. Conclusions: Absolute ethanol ablation for sporadic and non-hemorrhaging AML is safe and effective in reducing majority of tumor area in a 1-year follow-up.

  11. Advanced neutral-beam technology

    International Nuclear Information System (INIS)

    Berkner, K.H.

    1980-09-01

    Extensive development will be required to achieve the 50- to 75-MW, 175- to 200-keV, 5- to 10-sec pulses of deuterium atoms envisioned for ETF and INTOR. Multi-megawatt injector systems are large (and expansive); they consist of large vacuum tanks with many square meters of cryogenic pumping panels, beam dumps capable of dissipating several megawatts of un-neutralized beam, bending magnets, electrical power systems capable of fast turnoff with low (capacity) stored energy, and, of course, the injector modules (ion sources and accelerators). The technology requirements associated with these components are described

  12. Applied model for the growth of the daytime mixed layer

    DEFF Research Database (Denmark)

    Batchvarova, E.; Gryning, Sven-Erik

    1991-01-01

    numerically. When the mixed layer is shallow or the atmosphere nearly neutrally stratified, the growth is controlled mainly by mechanical turbulence. When the layer is deep, its growth is controlled mainly by convective turbulence. The model is applied on a data set of the evolution of the height of the mixed...... layer in the morning hours, when both mechanical and convective turbulence contribute to the growth process. Realistic mixed-layer developments are obtained....

  13. Plasma neutralizers for H- or D- beams

    International Nuclear Information System (INIS)

    Berkner, K.H.; Pyle, R.V.; Savas, S.E.; Stalder, K.R.

    1980-10-01

    Plasma neutralizers can produce higher conversion efficiencies than are obtainable with gas neutralizers for the production of high-energy neutral beams from negative hydrogen ions. Little attention has been paid to experimental neutralizer studies because of the more critical problems connected with the development of negative-ion sources. With the prospect of accelerating ampere dc beams from extrapolatable ion sources some time next year, we are re-examining plasma neutralizers. Some basic considerations, two introductory experiments, and a next-step experiment are described

  14. ORNL positive ion neutral beam program

    International Nuclear Information System (INIS)

    Whealton, J.H.; Haselton, H.H.; Barber, G.C.

    1978-01-01

    The neutral beam group at Oak Ridge National Laboratory has constructed neutral beam generators for the ORMAK and PLT devices, is presently constructing neutral beam devices for the ISX and PDX devices, and is contemplating the construction of neutral beam systems for the advanced TNS device. These neutral beam devices stem from the pioneering work on ion sources of G. G. Kelley and O. B. Morgan. We describe the ion sources under development at this Laboratory, the beam optics exhibited by these sources, as well as some theoretical considerations, and finally the remainder of the beamline design

  15. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

    Directory of Open Access Journals (Sweden)

    Marocchi Alessandro

    2008-05-01

    Full Text Available Abstract Background Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis Results Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31% and from 69.1 to 86.2% (average 76.6% respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%. This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg

  16. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

    Science.gov (United States)

    Penco, Silvana; Buscema, Massimo; Patrosso, Maria Cristina; Marocchi, Alessandro; Grossi, Enzo

    2008-05-30

    Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS) have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31%) and from 69.1 to 86.2% (average 76.6%) respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%). This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg158cys; hepatic lipase -480 C/T; endothelial

  17. Blood-flow restricted resistance training in patients with sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, A.; Aagaard, P.; Frandsen, U.

    2018-01-01

    Objectives: To investigate the effect of 12 weeks of low-load blood-flow restricted resistance (BFR) training on self-reported and objective physical function, and maximal muscle strength in patients with sporadic inclusion body myositis (sIBM). Method: Twenty-two patients with sIBM were randomized......), which was used to measure self-reported physical function. All patients performed physical function tests (2-Minute Walk Test, Timed Up and Go, and 30-Second Chair Stand), completed the Inclusion Body Myositis Functional Rating Scale (IBMFRS), and were tested for isolated knee extensor muscle strength...

  18. Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

    Science.gov (United States)

    Malik, Sajid; Afzal, Muhammad

    2013-03-01

    Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

  19. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning

    International Nuclear Information System (INIS)

    Takahashi, Hirohide; Snow, B.J.; Bhatt, M.H.; Peppard, R.; Eisen, A.; Calne, D.B.

    1993-01-01

    Although rare, the chronic neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and idiopathic parkinsonism coexist to a greater degree than expected by chance. This suggests that patients with ALS may have subclinical lesions of the nigrostriatal dopaminergic pathway. To study this hypothesis, the authors did positron emission tomography with 6-fluorodopa on 16 patients with sporadic ALS and without extrapyramidal disease, and compared the results with age-matched controls. They found a significant progressive fall in 6-fluorodopa uptake with time since diagnosis, and reduced dopaminergic function in 3 patients with ALS of long duration. This supports the hypothesis that ALS and IP may share pathogenesis, and, perhaps, etiology

  20. Epidemiological evaluation of sporadic cases of Norovirus infection in comunitary and hospitalized patients

    Directory of Open Access Journals (Sweden)

    Sara Giordana Rimoldi

    2009-03-01

    Full Text Available Surveillace of viral gastoenteritis infections is very poor in Italy, even if starting from 2004 Norovirus became one of the most causative agent of infections in all the seasons. The aim of our study was to evaluate the isolation of Norovirus both in hospitalizes patients and communitary patients. From October 2006 to March 2008 we examined 400 samples. Our results showed only 15 sporadic cases in pediatric, HIV comunitary patients. These cases were analyzed by using an ELISA screening (Biopharm and the results were confirmed with real time PCT (Argene.

  1. Sporadic case of listeriosis associated with the consumption of a Listeria monocytogenes-contaminated 'Camembert' cheese.

    Science.gov (United States)

    Gilot, P; Hermans, C; Yde, M; Gigi, J; Janssens, M; Genicot, A; André, P; Wauters, G

    1997-09-01

    Listeria monocytogenes is an intracellular gram-positive organism responsible for severe infections in both humans and animals. Whereas the food-borne transmission of listeriosis was demonstrated in several outbreaks, most cases of listeriosis occur sporadically and are rarely linked with consumption of contaminated foods. In this paper a case of septicaemia with L. monocytogenes in a 73-year-old immunocompromised man is described. Evidence for the association of this case of listeriosis with the consumption of a contaminated 'Camembert' cheese is provided by serotyping, esterase typing, DNA macrorestriction patterns analysis and level of virulence of the isolated strains for mice.

  2. RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.

    Science.gov (United States)

    Fennell, Lochlan J; Clendenning, Mark; McKeone, Diane M; Jamieson, Saara H; Balachandran, Samanthy; Borowsky, Jennifer; Liu, John; Kawamata, Futoshi; Bond, Catherine E; Rosty, Christophe; Burge, Matthew E; Buchanan, Daniel D; Leggett, Barbara A; Whitehall, Vicki L J

    2018-01-01

    The WNT signaling pathway is commonly altered during colorectal cancer development. The E3 ubiquitin ligase, RNF43, negatively regulates the WNT signal through increased ubiquitination and subsequent degradation of the Frizzled receptor. RNF43 has recently been reported to harbor frequent truncating frameshift mutations in sporadic microsatellite unstable (MSI) colorectal cancers. This study assesses the relative frequency of RNF43 mutations in hereditary colorectal cancers arising in the setting of Lynch syndrome. The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60 years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA. A validation cohort of 44 colorectal cancers from mismatch repair germline mutation carriers from the Australasian Colorectal Cancer Family Registry (ACCFR) were sequenced for the most common truncating mutation hotspots (X117 and X659). RNF43 mutations were found in 9 of 24 (37.5%) Lynch syndrome colorectal cancers. The majority of mutations were frameshift deletions in the G659 G7 repeat tract (29%); 2 cancers (2/24, 8%) from the one patient harbored frameshift mutations at codon R117 (C6 repeat tract) within exon 3. In the ACCFR validation cohort, RNF43 hotspot mutations were identified in 19/44 (43.2%) of samples, which was not significantly different to the initial series. The proportion of mutant RNF43 in Lynch syndrome related colorectal cancers is significantly lower than the previously reported mutation rate found in sporadic MSI colorectal cancers. These findings identify further genetic differences between sporadic and hereditary colorectal cancers. This may be because Lynch Syndrome cancers

  3. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

    DEFF Research Database (Denmark)

    Bahl, Justyna Maria Czarna; Heegaard, Niels Henrik Helweg; Falkenhorst, Gerhard

    2009-01-01

    ) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE......Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF...

  4. Internal equilibrium layer growth over forest

    DEFF Research Database (Denmark)

    Dellwik, E.; Jensen, N.O.

    2000-01-01

    the magnitude of the scatter. Different theoretical friction velocity profiles for the Internal Boundary Layer (IBL) are tested against the forest data. The results yield information on the Internal Equilibrium Layer (IEL) growth and an equation for the IEL height fur neutral conditions is derived. For stable...... conditions the results indicate that very long fetches are required in order to measure parameters in equilibrium with the actual surface....

  5. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature

    Directory of Open Access Journals (Sweden)

    Nozières Cécile

    2011-10-01

    Full Text Available Abstract Background Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH, is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1; Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP. We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms. Methods Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1 levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume. Results Patients were aged 5-17 years and the majority (n = 6 were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2; the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3. Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1, whereas two of the three patients with sporadic somatotropinoma required only one type of therapy. Conclusions This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore

  6. Shielding calculations for the TFTR neutral beam injectors

    International Nuclear Information System (INIS)

    Santoro, R.T.; Lillie, R.A.; Alsmiller, R.G. Jr.; Barnes, J.M.

    1979-07-01

    Two-dimensional discrete ordinates calculations have been performed to determine the location and thickness of concrete shielding around the Tokamak Fusion Test Reactor (TFTR) neutral beam injectors. Two sets of calculations were performed: one to determine the dose equivalent rate on the roof and walls of the test cell building when no injectors are present, and one to determine the contribution to the dose equivalent rate at these locations from radiation streaming through the injection duct. Shielding the side and rear of the neutral beam injector with 0.305 and 0.61 m of concrete, respectively, and lining the inside of the test cell wall with an additional layer of concrete having a thickness of 0.305 m and a height above the axis of deuteron injection of 3.10 m are sufficient to maintain the biological dose equivalent rate outside the test cell to approx. 1 mrem/DT pulse

  7. Daytime dependence of disturbances of ionospheric Es-layers connected to earthquakes

    Science.gov (United States)

    Liperovskaya, E. V.; Liperovsky, A. V.; Meister, C.-V.; Silina, A. S.

    2012-04-01

    In the present work variations of the semi-transparency of the sporadic E-layer of the ionosphere due to seismic activities are studied. The semi-transparency Q is determined by the blanketing frequency fbEs and the characteristic frequency foEs, Q = (foEs - fbEs)/fbEs. At low values of the blanketing frequency fbEs, the critical frequency foEs does not describe the maximum ionisation density of the Es-layer, as the critical frequencies of regular ionospheric layers (e.g. foF2) do, but it describes the occurrence of small-scall (tenths of meters) inhomogeneities of the ionisation density along the vertical in the layer. The maximum ionisation density of the sporadic layer is proportional to the square of fbEs. In the case of vertical ionospheric sounding, the sporadic layer becomes transparent for signals with frequencies larger than fbEs. Investigations showed that about three days before an earthquake an increase of the semi-transparency interval is observed during sunset and sunrise. In the present work, analogous results are found for data of the vertical sounding stations "Tokyo" and "Petropavlovsk-Kamchatsky". Using the method of superposition of epoches, more than 50 earthquakes with magnitudes M > 5, depths h < 40 km, and distances between the station and the epicenter R < 300 km are considered in case of the vertical sounding station "Tokyo". More than 20 earthquakes with such parameters were analysed in case of the station "Petropavlovsk-Kamchatsky". Days with strong geomagnetic activity were excluded from the analysis. According to the station "Petropavlovsk-Kamchatsky" about 1-3 days before earthquakes, an increase of Es-spread is observed a few hours before midnight. This increase is a sign of large-scale inhomogeneities in the sporadic layers.

  8. Discrete symmetries with neutral mesons

    Science.gov (United States)

    Bernabéu, José

    2018-01-01

    Symmetries, and Symmetry Breakings, in the Laws of Physics play a crucial role in Fundamental Science. Parity and Charge Conjugation Violations prompted the consideration of Chiral Fields in the construction of the Standard Model, whereas CP-Violation needed at least three families of Quarks leading to Flavour Physics. In this Lecture I discuss the Conceptual Basis and the present experimental results for a Direct Evidence of Separate Reversal-in-Time T, CP and CPT Genuine Asymmetries in Decaying Particles like Neutral Meson Transitions, using Quantum Entanglement and the Decay as a Filtering Measurement. The eight transitions associated to the Flavour-CP eigenstate decay products of entangled neutral mesons have demonstrated with impressive significance a separate evidence of TRV and CPV in Bd-physics, whereas a CPTV asymmetry shows a 2σ effect interpreted as an upper limit. Novel CPTV observables are discussed for K physics at KLOE-2, including the difference between the semileptonic asymmetries from KL and KS, the ratios of double decay rate Intensities to Flavour-CP eigenstate decay products and the ω-effect. Their observation would lead to a change of paradigm beyond Quantum Field Theory, however there is nothing in Quantum Mechanics forbidding CPTV.

  9. The ‘Pokemon’ (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer

    Science.gov (United States)

    Salas, Antonio; Vega, Ana; Milne, Roger L.; García-Magariños, Manuel; Ruibal, Álvaro; Benítez, Javier; Carracedo, Ángel

    2008-01-01

    It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identified as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from North and Central Spanish patients. We genotyped 15 SNPs in ZBTB7, including the flanking regions, with an average coverage of 1 SNP/2.4 Kb, in 360 sporadic breast cancer cases and 402 controls. Comparison of allele, genotype and haplotype frequencies between cases and controls did not reveal associations using Pearson’s chi-square test and a permutation procedure to correct for multiple test. In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association. PMID:21892298

  10. A prospective evaluation of laparoscopic exploration with intraoperative ultrasound as a technique for localizing sporadic insulinomas.

    Science.gov (United States)

    Grover, Amelia C; Skarulis, Monica; Alexander, H Richard; Pingpank, James F; Javor, Edward D; Chang, Richard; Shawker, Thomas; Gorden, Phil; Cochran, Craig; Libutti, Steven K

    2005-12-01

    Preoperative imaging studies localize insulinomas in less than 50% of patients. Arteriography with calcium stimulation and venous sampling (ASVS) regionalizes greater than 90% of insulinomas but requires specialized expertise and an invasive procedure. This prospective study evaluated laparoscopic exploration with IOUS compared with the other localization procedures in patients with a sporadic insulinoma. Between March 2001 and October 2004, 14 patients (7 women and 7 men; mean age, 53) with an insulinoma were enrolled in an IRB-approved protocol. Computed tomography, magnetic resonance imaging, ultrasound scan, and arteriography with calcium stimulation and venous sampling were performed preoperatively. A surgeon, blinded to the results of the localizing studies, performed a laparoscopic exploration with intraoperative ultrasound (IOUS). At the completion of the exploration, the success of laparoscopy for localization was scored, and the tumor was resected. Twelve of 14 tumors were localized successfully before laparoscopy (noninvasive, 7 of 14; invasive, 11 of 14). Laparoscopic IOUS localized successfully 12 of 14 tumors. All lesions were resected, and all patients were cured (median follow-up, 36 months). Laparoscopic IOUS identified 86% of tumors. The authors consider laparoscopic IOUS to be equivalent to ASVS in localizing insulinomas. Further study is therefore warranted to determine the role of laparoscopy with IOUS in the localization and treatment algorithm for patients with sporadic insulinoma.

  11. A Risk Prediction Model for Sporadic CRC Based on Routine Lab Results.

    Science.gov (United States)

    Boursi, Ben; Mamtani, Ronac; Hwang, Wei-Ting; Haynes, Kevin; Yang, Yu-Xiao

    2016-07-01

    Current risk scores for colorectal cancer (CRC) are based on demographic and behavioral factors and have limited predictive values. To develop a novel risk prediction model for sporadic CRC using clinical and laboratory data in electronic medical records. We conducted a nested case-control study in a UK primary care database. Cases included those with a diagnostic code of CRC, aged 50-85. Each case was matched with four controls using incidence density sampling. CRC predictors were examined using univariate conditional logistic regression. Variables with p value CRC prediction models which included age, sex, height, obesity, ever smoking, alcohol dependence, and previous screening colonoscopy had an AUC of 0.58 (0.57-0.59) with poor goodness of fit. A laboratory-based model including hematocrit, MCV, lymphocytes, and neutrophil-lymphocyte ratio (NLR) had an AUC of 0.76 (0.76-0.77) and a McFadden's R2 of 0.21 with a NRI of 47.6 %. A combined model including sex, hemoglobin, MCV, white blood cells, platelets, NLR, and oral hypoglycemic use had an AUC of 0.80 (0.79-0.81) with a McFadden's R2 of 0.27 and a NRI of 60.7 %. Similar results were shown in an internal validation set. A laboratory-based risk model had good predictive power for sporadic CRC risk.

  12. Are there tumor suppressor genes on chromosome 4p in sporadic colorectal carcinoma?

    Science.gov (United States)

    Zheng, Hai-Tao; Jiang, Li-Xin; Lv, Zhong-Chuan; Li, Da-Peng; Zhou, Chong-Zhi; Gao, Jian-Jun; He, Lin; Peng, Zhi-Hai

    2008-01-07

    To study the candidate tumor suppressor genes (TSG) on chromosome 4p by detecting the high frequency of loss of heterozygosity (LOH) in sporadic colorectal carcinoma in Chinese patients. Seven fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by PCR. PCR products were electrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. The same procedure was performed by the other six microsatellite markers spanning D4S3013 locus to make further detailed deletion mapping. Comparison between LOH frequency and clinicopathological factors was performed by c2 test. Data were collected from all informative loci. The average LOH frequency on 4p was 24.25%, and 42.3% and 35.62% on D4S405 and D4S3013 locus, respectively. Adjacent markers of D4S3013 displayed a low LOH frequency (4p15.2) and D4S405 (4p14) locus are detected. Candidate TSG, which is involved in carcinogenesis and progression of sporadic colorectal carcinoma on chromosome 4p, may be located between D4S3017 and D4S2933 (about 1.7 cm).

  13. Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer

    International Nuclear Information System (INIS)

    Cox, David G; Kraft, Peter; Hankinson, Susan E; Hunter, David J

    2005-01-01

    Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear

  14. Magnesium protects cognitive functions and synaptic plasticity in streptozotocin-induced sporadic Alzheimer's model.

    Directory of Open Access Journals (Sweden)

    Zhi-Peng Xu

    Full Text Available Alzheimer's disease (AD is characterized by profound synapse loss and impairments of learning and memory. Magnesium affects many biochemical mechanisms that are vital for neuronal properties and synaptic plasticity. Recent studies have demonstrated that the serum and brain magnesium levels are decreased in AD patients; however, the exact role of magnesium in AD pathogenesis remains unclear. Here, we found that the intraperitoneal administration of magnesium sulfate increased the brain magnesium levels and protected learning and memory capacities in streptozotocin-induced sporadic AD model rats. We also found that magnesium sulfate reversed impairments in long-term potentiation (LTP, dendritic abnormalities, and the impaired recruitment of synaptic proteins. Magnesium sulfate treatment also decreased tau hyperphosphorylation by increasing the inhibitory phosphorylation of GSK-3β at serine 9, thereby increasing the activity of Akt at Ser473 and PI3K at Tyr458/199, and improving insulin sensitivity. We conclude that magnesium treatment protects cognitive function and synaptic plasticity by inhibiting GSK-3β in sporadic AD model rats, which suggests a potential role for magnesium in AD therapy.

  15. Minimally Invasive Treatment of Sporadic Burkitt’s Lymphoma Causing Ileocaecal Invagination

    Directory of Open Access Journals (Sweden)

    Paolo Panaccio

    2018-01-01

    Full Text Available Introduction. Primary NHL (non-Hodgkin lymphoma of the colon represents only 0.2% to 1.2% of all colonic malignancies. Burkitt’s lymphoma (BL is usually a disease reported in children and young people, most of them associated with EBV or HIV infection. We describe a rare case of intestinal obstruction due to sporadic Burkitt’s lymphoma causing ileocaecal invagination explaining our experience Methods. A 31-year-old man presented with diffuse colic pain and weight loss. Clinical examination revealed an abdominal distension with pain in the right iliac fossa. Colonoscopy documented a caecal large lesion with ulcerated mucosa. Computed tomography (CT have shown a 60 × 50 mm right colic parietal lesion with signs of ileocolic intussusception. Results. Laparoscopic right hemicolectomy was performed. Postoperative period was uneventful. CD20+ high-grade B-cell Burkitt’s lymphoma was confirmed by immunohistochemistry (CD20+, CD79+, and CD10+ and FISH test (t (8;14 (q24; q32. The patient was subsequently treated with adjuvant combination chemotherapy (Hyper-CVAD and is alive and disease-free at 8 months follow-up. Discussion. Adult sporadic Burkitt’s lymphoma (BL causing intestinal obstruction due to ileocaecal intussusception is an extremely rare occurrence and a diagnostic dilemma. Despite the surgical approach is selected based on patient’s conditions and surgeon’s expertise, minimally invasive method could be preferred.

  16. Early detection of sporadic pancreatic cancer: strategic map for innovation--a white paper.

    Science.gov (United States)

    Kenner, Barbara J; Chari, Suresh T; Cleeter, Deborah F; Go, Vay Liang W

    2015-07-01

    Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer.

  17. A two-population sporadic meteoroid bulk density distribution and its implications for environment models

    Science.gov (United States)

    Moorhead, Althea V.; Blaauw, Rhiannon C.; Moser, Danielle E.; Campbell-Brown, Margaret D.; Brown, Peter G.; Cooke, William J.

    2017-12-01

    The bulk density of a meteoroid affects its dynamics in space, its ablation in the atmosphere, and the damage it does to spacecraft and lunar or planetary surfaces. Meteoroid bulk densities are also notoriously difficult to measure, and we are typically forced to assume a density or attempt to measure it via a proxy. In this paper, we construct a density distribution for sporadic meteoroids based on existing density measurements. We considered two possible proxies for density: the KB parameter introduced by Ceplecha and Tisserand parameter, TJ. Although KB is frequently cited as a proxy for meteoroid material properties, we find that it is poorly correlated with ablation-model-derived densities. We therefore follow the example of Kikwaya et al. in associating density with the Tisserand parameter. We fit two density distributions to meteoroids originating from Halley-type comets (TJ 2); the resulting two-population density distribution is the most detailed sporadic meteoroid density distribution justified by the available data. Finally, we discuss the implications for meteoroid environment models and spacecraft risk assessments. We find that correcting for density increases the fraction of meteoroid-induced spacecraft damage produced by the helion/antihelion source.

  18. Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer.

    Science.gov (United States)

    Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei; Kuasne, Hellen; Spencer, Ranyell Matheus; Nakagawa, Wilson Toshihiko; Bezerra, Tiago Santoro; Kupper, Bruna Catin; Takahashi, Renata Maymi; Barros Filho, Mateus; Rogatto, Silvia Regina; Lopes, Ademar

    2017-11-13

    Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described. This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas. Decreased expression of ERβ isoforms was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p colorectal carcinomas were compared to normal mucosa tissues. These findings suggest an association of the ERβ isoform variants in individuals affected by germline mutations of the APC gene. Progressively decreased expression of ERβ was found in polyps at early stages of low-grade dysplasia, followed by T1-T2 and T3-T4 tumours (p colorectal cancer, the loss of expression was an independent predictor of recurrence, and ERβ1 and ERβ5 expression levels were associated with better disease-free survival (p = 0.002). These findings may provide a better understanding of oestrogens and their potential preventive and therapeutic effects on sporadic colorectal cancer and cancers associated with FAP syndrome.

  19. Happy birthday, little neutral one

    International Nuclear Information System (INIS)

    Sutton, C.

    1990-01-01

    This article looks at the history of the neutrino particle, a tiny neutral particle which reacts only with the weak force. Its existence was originally postulated by Wolfgang Pauli in 1930, to explain beta decay energy conservation but because of the extreme experimental difficulties involved, neutrinos were not observed experimentally until 1956. Notwithstanding this the neutrino has become a valuable tool in high energy physics. Neutrino beams are used to probe matter and were used to reveal the existence of quarks within the particles once viewed as elementary, the proton and neutron. Cosmic neutrinos may be detected in the Deep Underwater Muon and Neutrino Detector off the coast of Hawaii and the Moon itself is a target for ultra high energy neutrinos in a Russian experiment to detect cascades of charge particles produced by these neutrinos in ice in the Antarctic. (UK)

  20. Gargamelle and the neutral currents

    International Nuclear Information System (INIS)

    Rousset, A.

    1996-06-01

    In order to simplify the description of forces, the physicists want to reduce the number of four interactions to a smaller one. They want to unify them. Einstein tried to unify the electromagnetic interaction and the gravitation interaction but it was probably the most difficult to unify. during the sixties, the American physicists Sheldon Glashow and Steven Weinberg and the Pakistani Abdus Salam ( each rewarded by the Nobel price of 1979) propose to unify the weak and electromagnetic interactions interactions under the form of an only interaction, the electro-weak interaction. To check the validity of this theory exist the demonstration by the weak neutral currents. In 1973, European physicians which analyzed photos taken in the bubble chamber called Gargamelle brought the experimental proof. This book tells the story of this discovery. (N.C.)

  1. $\\tau$ decays with neutral kaons

    CERN Document Server

    Abbiendi, G.; Akesson, P.F.; Alexander, G.; Allison, John; Anderson, K.J.; Arcelli, S.; Asai, S.; Ashby, S.F.; Axen, D.; Azuelos, G.; Bailey, I.; Ball, A.H.; Barberio, E.; Barlow, Roger J.; Batley, J.R.; Baumann, S.; Behnke, T.; Bell, Kenneth Watson; Bella, G.; Bellerive, A.; Bentvelsen, S.; Bethke, S.; Betts, S.; Biebel, O.; Biguzzi, A.; Bloodworth, I.J.; Bock, P.; Bohme, J.; Boeriu, O.; Bonacorsi, D.; Boutemeur, M.; Braibant, S.; Bright-Thomas, P.; Brigliadori, L.; Brown, Robert M.; Burckhart, H.J.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, David G.; Chrisman, D.; Ciocca, C.; Clarke, P.E.L.; Clay, E.; Cohen, I.; Conboy, J.E.; Cooke, O.C.; Couchman, J.; Couyoumtzelis, C.; Coxe, R.L.; Cuffiani, M.; Dado, S.; Dallavalle, G.Marco; Dallison, S.; Davis, R.; de Roeck, A.; Dervan, P.; Desch, K.; Dienes, B.; Dixit, M.S.; Donkers, M.; Dubbert, J.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Estabrooks, P.G.; Etzion, E.; Fabbri, F.; Fanfani, A.; Fanti, M.; Faust, A.A.; Feld, L.; Ferrari, P.; Fiedler, F.; Fierro, M.; Fleck, I.; Frey, A.; Furtjes, A.; Futyan, D.I.; Gagnon, P.; Gary, J.W.; Gaycken, G.; Geich-Gimbel, C.; Giacomelli, G.; Giacomelli, P.; Gingrich, D.M.; Glenzinski, D.; Goldberg, J.; Gorn, W.; Grandi, C.; Graham, K.; Gross, E.; Grunhaus, J.; Gruwe, M.; Hajdu, C.; Hanson, G.G.; Hansroul, M.; Hapke, M.; Harder, K.; Harel, A.; Hargrove, C.K.; Harin-Dirac, M.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Hemingway, R.J.; Herten, G.; Heuer, R.D.; Hildreth, M.D.; Hill, J.C.; Hobson, P.R.; Hocker, James Andrew; Hoffman, Kara Dion; Homer, R.J.; Honma, A.K.; Horvath, D.; Hossain, K.R.; Howard, R.; Huntemeyer, P.; Igo-Kemenes, P.; Imrie, D.C.; Ishii, K.; Jacob, F.R.; Jawahery, A.; Jeremie, H.; Jimack, M.; Jones, C.R.; Jovanovic, P.; Junk, T.R.; Kanaya, N.; Kanzaki, J.; Karapetian, G.; Karlen, D.; Kartvelishvili, V.; Kawagoe, K.; Kawamoto, T.; Kayal, P.I.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kim, D.H.; Klier, A.; Kobayashi, T.; Kobel, M.; Kokott, T.P.; Kolrep, M.; Komamiya, S.; Kowalewski, Robert V.; Kress, T.; Krieger, P.; von Krogh, J.; Kuhl, T.; Kupper, M.; Kyberd, P.; Lafferty, G.D.; Landsman, H.; Lanske, D.; Lauber, J.; Lawson, I.; Layter, J.G.; Lellouch, D.; Letts, J.; Levinson, L.; Liebisch, R.; Lillich, J.; List, B.; Littlewood, C.; Lloyd, A.W.; Lloyd, S.L.; Loebinger, F.K.; Long, G.D.; Losty, M.J.; Lu, J.; Ludwig, J.; Macchiolo, A.; Macpherson, A.; Mader, W.; Mannelli, M.; Marcellini, S.; Marchant, T.E.; 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.; Mendez-Lorenzo, P.; Merritt, F.S.; Mes, H.; Meyer, I.; Michelini, A.; Mihara, S.; Mikenberg, G.; Miller, D.J.; Mohr, W.; Montanari, A.; Mori, T.; Nagai, K.; Nakamura, I.; Neal, H.A.; Nisius, R.; O'Neale, S.W.; Oakham, F.G.; Odorici, F.; Ogren, H.O.; Okpara, A.; Oreglia, M.J.; Orito, S.; Pasztor, G.; Pater, J.R.; Patrick, G.N.; Patt, J.; Perez-Ochoa, R.; Petzold, S.; Pfeifenschneider, P.; Pilcher, J.E.; Pinfold, J.; Plane, David E.; Poli, B.; Polok, J.; Przybycien, M.; Quadt, A.; Rembser, C.; Rick, H.; Robins, S.A.; Rodning, N.; Roney, J.M.; Rosati, S.; Roscoe, K.; Rossi, A.M.; Rozen, Y.; Runge, K.; Runolfsson, O.; Rust, D.R.; Sachs, K.; Saeki, T.; Sahr, O.; Sang, W.M.; Sarkisian, E.K.G.; Sbarra, C.; Schaile, A.D.; Schaile, O.; Scharff-Hansen, P.; Schieck, J.; Schmitt, S.; Schoning, A.; Schroder, Matthias; Schumacher, M.; Schwick, C.; Scott, W.G.; Seuster, R.; Shears, T.G.; Shen, B.C.; Shepherd-Themistocleous, C.H.; Sherwood, P.; Siroli, G.P.; Skuja, A.; Smith, A.M.; Snow, G.A.; Sobie, R.; Soldner-Rembold, S.; Spagnolo, S.; Sproston, M.; Stahl, A.; Stephens, K.; Stoll, K.; Strom, David M.; Strohmer, R.; Surrow, B.; Talbot, S.D.; Taras, P.; Tarem, S.; Teuscher, R.; Thiergen, M.; Thomas, J.; Thomson, M.A.; Torrence, E.; Towers, S.; Trefzger, T.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turner-Watson, M.F.; Ueda, I.; Van Kooten, Rick J.; Vannerem, P.; Verzocchi, M.; Voss, H.; Wackerle, F.; Waller, D.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wengler, T.; Wermes, N.; Wetterling, D.; White, J.S.; Wilson, G.W.; Wilson, J.A.; Wyatt, T.R.; Yamashita, S.; Zacek, V.; Zer-Zion, D.

    2000-01-01

    The branching ratio of the tau lepton to a neutral K meson is measured from a sample of approximately 200,000 tau decays recorded by the OPAL detector at centre-of-mass energies near the Z0 resonance. The measurement is based on two samples which identify one-prong tau decays with KL and KS mesons. The combined branching ratios are measured to be B(tau- -->pi- K0bar nutau) = (9.33+-0.68+-0.49)x10^-3 B(tau- -->pi- K0bar [>=1pi0] nutau) = (3.24+-0.74+-0.66)x10^-3 B(tau- -->K- K0bar [>=0pi0] nutau) = (3.30+-0.55+-0.39)x10^-3 where the first error is statistical and the second systematic.

  2. Laser sputter neutral mass spectrometry

    Energy Technology Data Exchange (ETDEWEB)

    King, B V; Clarke, M; Hu, H; Betz, [Newcastle Univ., NSW (Australia). Dept. of Physics

    1994-12-31

    Laser sputter neutral mass spectrometry (LSNMS) is an emerging technique for highly sensitive surface analysis. In this technique a target is bombarded with a pulsed beam of keV ions. The sputtered particles are intercepted by a high intensity pulsed laser beam above the surface and ionised with almost 100% efficiency. The photions may then be mass analysed using a quadrupole or, more commonly, using time of flight (TOF) techniques. In this method photoions are extracted from the ionisation region, accelerated to a known energy E{sub o} and strike a channelplate detector a distance `d` away. The flight time `t` of the photoions is then related to their mass by `d` {radical}m / {radical} 2E{sub o} so measurement of `t` allows mass spectra to be obtained. It is found that LSNMS is an emerging technique of great sensitivity and flexibility, useful for both applied analysis and to investigate basic sputtering processes. 4 refs., 3 figs.

  3. Laser sputter neutral mass spectrometry

    Energy Technology Data Exchange (ETDEWEB)

    King, B.V.; Clarke, M.; Hu, H.; Betz [Newcastle Univ., NSW (Australia). Dept. of Physics

    1993-12-31

    Laser sputter neutral mass spectrometry (LSNMS) is an emerging technique for highly sensitive surface analysis. In this technique a target is bombarded with a pulsed beam of keV ions. The sputtered particles are intercepted by a high intensity pulsed laser beam above the surface and ionised with almost 100% efficiency. The photions may then be mass analysed using a quadrupole or, more commonly, using time of flight (TOF) techniques. In this method photoions are extracted from the ionisation region, accelerated to a known energy E{sub o} and strike a channelplate detector a distance `d` away. The flight time `t` of the photoions is then related to their mass by `d` {radical}m / {radical} 2E{sub o} so measurement of `t` allows mass spectra to be obtained. It is found that LSNMS is an emerging technique of great sensitivity and flexibility, useful for both applied analysis and to investigate basic sputtering processes. 4 refs., 3 figs.

  4. TFTR neutral beam power system

    International Nuclear Information System (INIS)

    Deitz, A.; Murray, H.; Winje, R.

    1977-01-01

    The TFTR NB System will be composed of four beam lines, each containing three ion sources presently being developed for TFTR by the Lawrence Berkeley Laboratories (LBL). The Neutral Beam Power System (NBPS) will provide the necessary power required to operate these Ion Sources in both an experimental or operational mode as well as test mode. This paper describes the technical as well as the administrative/management aspects involved in the development and building of this system. The NBPS will combine the aspects of HV pulse (120 kV) and long pulse width (0.5 sec) together to produce a high power system that is unique in the Electrical Engineering field

  5. Fractionation of fecal neutral steroids by high performance liquid chromatography

    International Nuclear Information System (INIS)

    Jackson, E.M.; Kloss, C.A.; Weintraub, S.T.; Mott, G.E.

    1985-01-01

    Fecal neutral steroids were fractionated by high performance liquid chromatography (HPLC) into three major fractions: 5 beta-H, 3-keto steroids; 5 beta-H, 3 beta-hydroxy steroids; and 5 alpha-H and delta 5-3 beta-hydroxy steroids. This separation was achieved in about 10 minutes, with greater than 97% recovery of standards in each fraction. Gas-liquid chromatographic quantitation of fecal steroids fractionated by either HPLC or thin-layer chromatography gave nearly identical results. A method using both C18 reverse phase and silica HPLC to purify radiolabeled sterols is also described

  6. Layered materials

    Science.gov (United States)

    Johnson, David; Clarke, Simon; Wiley, John; Koumoto, Kunihito

    2014-06-01

    Layered compounds, materials with a large anisotropy to their bonding, electrical and/or magnetic properties, have been important in the development of solid state chemistry, physics and engineering applications. Layered materials were the initial test bed where chemists developed intercalation chemistry that evolved into the field of topochemical reactions where researchers are able to perform sequential steps to arrive at kinetically stable products that cannot be directly prepared by other approaches. Physicists have used layered compounds to discover and understand novel phenomena made more apparent through reduced dimensionality. The discovery of charge and spin density waves and more recently the remarkable discovery in condensed matter physics of the two-dimensional topological insulating state were discovered in two-dimensional materials. The understanding developed in two-dimensional materials enabled subsequent extension of these and other phenomena into three-dimensional materials. Layered compounds have also been used in many technologies as engineers and scientists used their unique properties to solve challenging technical problems (low temperature ion conduction for batteries, easy shear planes for lubrication in vacuum, edge decorated catalyst sites for catalytic removal of sulfur from oil, etc). The articles that are published in this issue provide an excellent overview of the spectrum of activities that are being pursued, as well as an introduction to some of the most established achievements in the field. Clusters of papers discussing thermoelectric properties, electronic structure and transport properties, growth of single two-dimensional layers, intercalation and more extensive topochemical reactions and the interleaving of two structures to form new materials highlight the breadth of current research in this area. These papers will hopefully serve as a useful guideline for the interested reader to different important aspects in this field and

  7. Modeling Secondary Neutral Helium in the Heliosphere

    International Nuclear Information System (INIS)

    Müller, Hans-Reinhard; Möbius, Eberhard; Wood, Brian E.

    2016-01-01

    An accurate, analytic heliospheric neutral test-particle code for helium atoms from the interstellar medium (ISM) is coupled to global heliospheric models dominated by hydrogen and protons from the solar wind and the ISM. This coupling enables the forward-calculation of secondary helium neutrals from first principles. Secondaries are produced predominantly in the outer heliosheath, upwind of the heliopause, by charge exchange of helium ions with neutral atoms. The forward model integrates the secondary production terms along neutral trajectories and calculates the combined neutral helium phase space density in the innermost heliosphere where it can be related to in-situ observations. The phase space density of the secondary component is lower than that of primary neutral helium, but its presence can change the analysis of primaries and the ISM, and can yield valuable insight into the characteristics of the plasma in the outer heliosheath. (paper)

  8. Molecular clock on a neutral network.

    Science.gov (United States)

    Raval, Alpan

    2007-09-28

    The number of fixed mutations accumulated in an evolving population often displays a variance that is significantly larger than the mean (the overdispersed molecular clock). By examining a generic evolutionary process on a neutral network of high-fitness genotypes, we establish a formalism for computing all cumulants of the full probability distribution of accumulated mutations in terms of graph properties of the neutral network, and use the formalism to prove overdispersion of the molecular clock. We further show that significant overdispersion arises naturally in evolution when the neutral network is highly sparse, exhibits large global fluctuations in neutrality, and small local fluctuations in neutrality. The results are also relevant for elucidating aspects of neutral network topology from empirical measurements of the substitution process.

  9. Neutral particle beam alternative concept for ITER

    International Nuclear Information System (INIS)

    Sedgley, D.; Brook, J.; Luzzi, T.; Deutsch, L.

    1989-01-01

    An analysis of an ITER neutral particle beam system is presented. The analysis covers the neutralizer, ion dumps, pumping, and geometric aspects. The US beam concept for ITER consists of three or four clusters of beamlines delivering approximately 80 MW total of 1.6-MeV deuterium to three or four reactor ports. Each cluster has three self-contained beamlines featuring plasma neutralizers and electrostatic ion dumps. In this study, each of the beamlines has two source assemblies with separate gas neutralizers and magnetic ion dumps. Deuterium is injected into the gas neutralizers by a separate system. Saddle-shaped copper coils augment the tokamak poloidal field to turn the charged particles into the ion dumps. The gas flow from the source, neutralizer, and ion dump is pumped by regenerable cryopanels. The effect of the port between the TF coils and the beam injection angle on the plasma footprint was studied

  10. BEAMS3D Neutral Beam Injection Model

    Energy Technology Data Exchange (ETDEWEB)

    Lazerson, Samuel

    2014-04-14

    With the advent of applied 3D fi elds in Tokamaks and modern high performance stellarators, a need has arisen to address non-axisymmetric effects on neutral beam heating and fueling. We report on the development of a fully 3D neutral beam injection (NBI) model, BEAMS3D, which addresses this need by coupling 3D equilibria to a guiding center code capable of modeling neutral and charged particle trajectories across the separatrix and into the plasma core. Ionization, neutralization, charge-exchange, viscous velocity reduction, and pitch angle scattering are modeled with the ADAS atomic physics database [1]. Benchmark calculations are presented to validate the collisionless particle orbits, neutral beam injection model, frictional drag, and pitch angle scattering effects. A calculation of neutral beam heating in the NCSX device is performed, highlighting the capability of the code to handle 3D magnetic fields.

  11. Neutral-beam current drive in tokamaks

    International Nuclear Information System (INIS)

    Devoto, R.S.

    1986-01-01

    The theory of neutral-beam current drive in tokamaks is reviewed. Experiments are discussed where neutral beams have been used to drive current directly and also indirectly through neoclassical effects. Application of the theory to an experimental test reactor is described. It is shown that neutral beams formed from negative ions accelerated to 500 to 700 keV are needed for this device

  12. Neutral-beam current drive in tokamaks

    International Nuclear Information System (INIS)

    Devoto, R.S.

    1987-01-01

    The theory of neutral-beam current drive in tokamaks is reviewed. Experiments are discussed where neutral beams have been used to drive current directly and also indirectly through neoclassical effects. Application of the theory to an experimental test reactor is described. It is shown that neutral beams formed from negative ions accelerated to 500-700 keV are needed for this device

  13. On implicit abstract neutral nonlinear differential equations

    Energy Technology Data Exchange (ETDEWEB)

    Hernández, Eduardo, E-mail: lalohm@ffclrp.usp.br [Universidade de São Paulo, Departamento de Computação e Matemática, Faculdade de Filosofia Ciências e Letras de Ribeirão Preto (Brazil); O’Regan, Donal, E-mail: donal.oregan@nuigalway.ie [National University of Ireland, School of Mathematics, Statistics and Applied Mathematics (Ireland)

    2016-04-15

    In this paper we continue our developments in Hernández and O’Regan (J Funct Anal 261:3457–3481, 2011) on the existence of solutions for abstract neutral differential equations. In particular we extend the results in Hernández and O’Regan (J Funct Anal 261:3457–3481, 2011) for the case of implicit nonlinear neutral equations and we focus on applications to partial “nonlinear” neutral differential equations. Some applications involving partial neutral differential equations are presented.

  14. Structural Basis for Differential Neutralization of Ebolaviruses

    Directory of Open Access Journals (Sweden)

    John M. Dye

    2012-04-01

    Full Text Available There are five antigenically distinct ebolaviruses that cause hemorrhagic fever in humans or non-human primates (Ebola virus, Sudan virus, Reston virus, Taï Forest virus, and Bundibugyo virus. The small handful of antibodies known to neutralize the ebolaviruses bind to the surface glycoprotein termed GP1,2. Curiously, some antibodies against them are known to neutralize in vitro but not protect in vivo, whereas other antibodies are known to protect animal models in vivo, but not neutralize in vitro. A detailed understanding of what constitutes a neutralizing and/or protective antibody response is critical for development of novel therapeutic strategies. Here, we show that paradoxically, a lower affinity antibody with restricted access to its epitope confers better neutralization than a higher affinity antibody against a similar epitope, suggesting that either subtle differences in epitope, or different characteristics of the GP1,2 molecules themselves, confer differential neutralization susceptibility. Here, we also report the crystal structure of trimeric, prefusion GP1,2 from the original 1976 Boniface variant of Sudan virus complexed with 16F6, the first antibody known to neutralize Sudan virus, and compare the structure to that of Sudan virus, variant Gulu. We discuss new structural details of the GP1-GP2 clamp, thermal motion of various regions in GP1,2 across the two viruses visualized, details of differential interaction of the crystallized neutralizing antibodies, and their relevance for virus neutralization.

  15. PRKAG3 polymorphisms associated with sporadic Wolff-Parkinson-White syndrome among a Taiwanese population.

    Science.gov (United States)

    Weng, Ken-Pen; Yuh, Yeong-Seng; Huang, Shih-Hui; Hsiao, Hsiang-Chiang; Wu, Huang-Wei; Chien, Jen-Hung; Chen, Bo-Hau; Huang, Shih-Ming; Chien, Kuang-Jen; Ger, Luo-Ping

    2016-12-01

    The aim of this study was to investigate whether mutation in AMP-activated protein kinase (AMPK) subunit genes (PRKAG3-230) is associated with sporadic, isolated Wolff-Parkinson-White (WPW) syndrome. This study consisted of 87 patients with symptomatic WPW syndrome and 93 healthy controls. PRKAG3-230 genotypes were determined using real-time polymerase chain reaction assay. Genotype and allele frequencies of PRKAG3-230 between patients with WPW syndrome and healthy controls were ascertained using chi-square test or Fisher exact test when appropriate. PRKAG3-230 were genotyped in 87 patients (53 men and 34 women; age=24.4±18.0 years) with WPW syndrome and 93 healthy controls (57 men and 36 women; age=16.8±4.2 years). There were no significant differences between the two groups in terms of age and sex. The patients with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype [odds ratio (OR)=1.99, 95% confidence interval (CI)=1.01-3.89, p=0.045; OR=1.99, 95% CI=1.04-3.78, p=0.037, respectively]. The allelic types were not associated with the risk of WPW syndrome. The patients with manifest type with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype (OR=2.86, 95% CI=1.16-7.05, p=0.022; OR=2.84, 95% CI=1.19-6.80, p=0.019, respectively). The patients with right-side accessory pathways with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype (OR=3.07, 95% CI=1.25-7.51, p=0.014; OR=2.84, 95% CI=1.19-6.80, p=0.019, respectively). The allelic types were not associated with the risk of WPW types and locations. This study shows that PRKAG3-230 may be associated with sporadic WPW syndrome among a Taiwanese population. Further studies are warranted to elucidate the role of mutations in AMPK subunit genes other than PRKAG3-230 in sporadic WPW syndrome. Copyright © 2016. Published by Elsevier Taiwan LLC.

  16. Liberal Neutrality : Constructivist, not foundationalist

    Directory of Open Access Journals (Sweden)

    Lendell Horne

    2009-06-01

    Full Text Available In defending the principle of neutrality, liberals have often appealed to a more general moral principle that forbids coercing persons in the name of reasons those persons themselves cannot reasonably be expected to share. Yet liberals have struggled to articulate a non-arbitrary, non-dogmatic distinction between the reasons that persons can reasonably be expected to share and those they cannot. The reason for this, I argue, is that what it means to “share a reason” is itself obscure. In this paper I articulate two different conceptions of what it is to share a reason; I call these conceptions “foundationalist” and “constructivist.” On the foundationalist view, two people “share” a reason just in the sense that the same reason applies to each of them independently. On this view, I argue, debates about the reasons we share collapse into debates about the reasons we have, moving us no closer to an adequate defense of neutrality. On the constructivist view, by contrast, “sharing reasons” is understood as a kind of activity, and the reasons we must share are just those reasons that make this activity possible. I argue that the constructivist conception of sharing reasons yields a better defense of the principle of neutrality. À travers leur défense du principe de neutralité, les libéraux ont souvent interpellé un principe moral plus général qui interdit de contraindre des personnes pour des raisons dont on ne peut raisonnablement attendre que ces personnes elles-mêmes les partagent. Les libéraux éprouvent cependant de la difficulté à articuler une distinction non-arbitraire et non-dogmatique entre les raisons dont on peut raisonnablement attendre que les personnes les partagent et celles dont on ne le peut pas. Je soutiens dans cet article que cette difficulté provient du fait que «partager une raison » est une notion obscure. Pour illustrer cela, je me pencherai sur deux conceptions distinctes de ce que veut dire

  17. EPICS - MDSplus integration in the ITER Neutral Beam Test Facility

    International Nuclear Information System (INIS)

    Luchetta, Adriano; Manduchi, Gabriele; Barbalace, Antonio; Soppelsa, Anton; Taliercio, Cesare

    2011-01-01

    SPIDER, the ITER-size ion-source test bed in the ITER Neutral Beam Test Facility, is a fusion device requiring a complex central system to provide control and data acquisition, referred to as CODAS. The CODAS software architecture will rely on EPICS and MDSplus, two open-source, collaborative software frameworks, targeted at control and data acquisition, respectively. EPICS has been selected as ITER CODAC middleware and, as the final deliverable of the Neutral Beam Test Facility is the procurement of the ITER Heating Neutral Beam Injector, we decided to adopt this ITER technology. MDSplus is a software package for data management, supporting advanced concepts, such as platform and underlying hardware independence, self description data, and data driven model. The combined use of EPICS and MDSplus is not new in fusion, but their level of integration will be new in SPIDER, achieved by a more refined data access layer. The paper presents the integration software to use effectively EPICS and MDSplus, including the definition of appropriate EPICS records to interact with MDSplus. The MDSplus and EPICS archive concepts are also compared on the basis of performance tests and data streaming is investigated by ad-hoc measurements.

  18. Field aligned flows driven by neutral puffing at MAST

    Science.gov (United States)

    Waters, I.; Frerichs, H.; Silburn, S.; Feng, Y.; Harrison, J.; Kirk, A.; Schmitz, O.

    2018-06-01

    Neutral deuterium gas puffing at the high field side of the mega ampere spherical tokamak (MAST) is shown to drive carbon impurity flows that are aligned with the trajectory of the magnetic field lines in the plasma scrape-off-layer. These impurity flows were directly imaged with emissions from C2+ ions at MAST by coherence imaging spectroscopy and were qualitatively reproduced in deuterium plasmas by modeling with the EMC3-EIRENE plasma edge fluid and kinetic neutral transport code. A reduced one-dimensional momentum and particle balance shows that a localized increase in the static plasma pressure in front of the neutral gas puff yields an acceleration of the plasma due to local ionization. Perpendicular particle transport yields a decay from which a parallel length scale can be determined. Parameter scans in EMC3-EIRENE were carried out to determine the sensitivity of the deuterium plasma flow phenomena to local fueling and diffusion parameters and it is found that these flows robustly form across a wide variety of plasma conditions. Finally, efforts to couple this behavior in the background plasma directly to the impurity flows observed experimentally in MAST using a trace impurity model are discussed. These results provide insight into the fueling and exhaust features at this pivotal point of the radial and parallel particle flux balance, which is a major part of the plasma fueling and exhaust characteristics in a magnetically confined fusion device.

  19. Plasma/neutral gas transport in divertors and limiters

    International Nuclear Information System (INIS)

    Gierszewski, P.J.

    1983-09-01

    The engineering design of the divertor and first wall region of fusion reactors requires accurate knowledge of the energies and particle fluxes striking these surfaces. Simple calculations indicate that approx. 10 MW/m 2 heat fluxes and approx. 1 cm/yr erosion rates are possible, but there remain fundamental physics questions that bear directly on the engineering design. The purpose of this study was to treat hydrogen plasma and neutral gas transport in divertors and pumped limiters in sufficient detail to answer some of the questions as to the actual conditions that will be expected in fusion reactors. This was accomplished in four parts: (1) a review of relevant atomic processes to establish the dominant interactions and their data base; (2) a steady-state coupled O-D model of the plasma core, scrape-off layer and divertor exhaust to determine gross modes of operation and edge conditions; (3) a 1-D kinetic transport model to investigate the case of collisionless divertor exhaust, including non-Maxwellian ions and neutral atoms, highly collisional electrons, and a self-consistent electric field; and (4) a 3-D Monte Carlo treatment of neutral transport to correctly account for geometric effects

  20. Neutral transport and helium pumping of ITER

    International Nuclear Information System (INIS)

    Ruzic, D.N.

    1990-08-01

    A 2-D Monte-Carlo simulation of the neutral atom densities in the divertor, divertor throat and pump duct of ITER was made using the DEGAS code. Plasma conditions in the scrape-off layer and region near the separatrix were modeled using the B2 plasma transport code. Wall reflection coefficients including the effect of realistic surface roughness were determined by using the fractal TRIM code. The DEGAS and B2 coupling was iterated until a consistent recycling was predicted. Results were obtained for a helium and a deuterium/tritium mixture on 7 different ITER divertor throat geometries for both the physics phase reference base case and a technology phase case. The geometry with a larger structure on the midplane-side of the throat opening closing the divertor throat and a divertor plate which maintains a steep slope well into the throat removed helium 1.5 times better than the reference geometry for the physics phase case and 2.2 times better for the technology phase case. At the same time the helium to hydrogen pumping ratio shows a factor of 2.34 ± .41 enhancement over the ratio of helium to hydrogen incident on the divertor plate in the physics phase and an improvement of 1.61 ± .31 in the technology phase. If the helium flux profile on the divertor plate is moved outward by 20 cm with respect to the D/T flux profile for this particular geometry, the enhancement increases to 4.36 ± .90 in the physics phase and 5.10 ± .92 in the technology phase

  1. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

    DEFF Research Database (Denmark)

    Raitila, A; Georgitsi, M; Karhu, A

    2007-01-01

    . Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X...... as non-secreting pituitary adenomas have been reported, most mutation-positive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1...... (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas...

  2. Observations of peculiar sporadic sodium structures and their relation with wind variations

    Science.gov (United States)

    Sridharan, S.; Prasanth, P. Vishnu; Kumar, Y. Bhavani; Ramkumar, Geetha; Sathishkumar, S.; Raghunath, K.

    2009-04-01

    Resonance lidar observations of sodium density in the upper mesosphere region over Gadanki (13.5°N, 79.2°E) rarely show complex structures with rapid enhancements of sodium density, completely different from normal sporadic sodium structures. The hourly averaged meteor radar zonal winds over Trivandrum (8.5°N, 76.5°E) show an eastward shear with altitude during the nights, when these events are formed. As suggested by Kane et al. [2001. Joint observations of sodium enhancements and field-aligned ionospheric irregularities. Geophysical Research Letters 28, 1375-1378], our observations show that the complex structures may be formed due to Kelvin-Helmholtz instability, which can occur in the region of strong wind shear.

  3. Sporadic Legionnaires' disease: the role of domestic electric hot-water tanks.

    Science.gov (United States)

    Dufresne, S F; Locas, M C; Duchesne, A; Restieri, C; Ismaïl, J; Lefebvre, B; Labbé, A C; Dion, R; Plante, M; Laverdière, M

    2012-01-01

    Sporadic community-acquired legionellosis (SCAL) can be acquired through contaminated aerosols from residential potable water. Electricity-dependent hot-water tanks are widely used in the province of Quebec (Canada) and have been shown to be frequently contaminated with Legionella spp. We prospectively investigated the homes of culture-proven SCAL patients from Quebec in order to establish the proportion of patients whose domestic potable hot-water system was contaminated with the same Legionella isolate that caused their pneumonia. Water samples were collected in each patient's home. Environmental and clinical isolates were compared using pulsed-field gel electrophoresis. Thirty-six patients were enrolled into the study. Legionella was recovered in 12/36 (33%) homes. The residential and clinical isolates were found to be microbiologically related in 5/36 (14%) patients. Contaminated electricity-heated domestic hot-water systems contribute to the acquisition of SCAL. The proportion is similar to previous reports, but may be underestimated.

  4. Screening for sporadic or familial medullary thyroid carcinoma. Scintiscan s and radio-immunotherapy

    International Nuclear Information System (INIS)

    Rhmer, V.; Murat, A.

    2000-01-01

    The screening for sporadic medullary thyroid carcinoma relies upon calcitoninemia level, basal or during pentagastrine stimulation test. MEN2 are associated with nearly the third of medullary thyroid carcinoma. In these cases, prognosis of thyroid carcinoma is mainly driven by the tumor status at the time of surgery. Up to date, diagnosis relies upon the genetic screening. Prophylactic thyroidectomy indication may take account of calcitoninemia. Most of the molecules that have been suggested for scintiscan lack of accuracy and large use cannot be recommended. Promising results have been obtained with monoclonal antibodies anti-CEA, particularly with dual targeting antiCEA antiDTPA. This last technique may also be used for radio-guided surgery. Its use for radio-immunotherapy is under investigation. (authors)

  5. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas

    DEFF Research Database (Denmark)

    Bueno, R C; Canevari, R A; Villacis, R A R

    2014-01-01

    BACKGROUND: Ataxia telangiectasia-mutated (ATM) gene downexpression has been reported in sporadic breast carcinomas (BC); however, the prognostic value and mechanisms of ATM deregulation remain unclear. PATIENTS AND METHODS: ATM and miRNAs (miR-26a, miR-26b, miR-203, miR-421, miR-664, miR-576-5p...... and miR-18a) expression levels were evaluated by quantitative real-time PCR (RT-qPCR) in 52 BC and 3 normal breast samples. ATM protein expression was assessed by immunohistochemistry in 968 BC and 35 adjacent normal breast tissues. ATM copy number alteration was detected by array comparative genomic...... hybridization (aCGH) in 42 tumours. RESULTS: Low ATM levels were associated with tumour grade. Absence of ATM protein expression was associated with distant metastasis (P ATM...

  6. Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Coppedè, Fabio; Migheli, Francesca; Lo Gerfo, Annalisa; Fabbrizi, Maria Rita; Carlesi, Cecilia; Mancuso, Michelangelo; Corti, Stefania; Mezzina, Nicoletta; del Bo, Roberto; Comi, Giacomo P; Siciliano, Gabriele; Migliore, Lucia

    2010-01-01

    The aim of the present study was to investigate the possible contribution of three common functional polymorphisms in the DNA repair protein X-ray repair cross-complementing group 1 (XRCC1), namely Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487), to sporadic amyotrophic lateral sclerosis (SALS). We genotyped 206 Italian SALS patients and 203 matched controls for XRCC1 Arg194Trp, Arg280His and Arg399Gln polymorphisms by means of PCR/RFLP technique, searching for association between any of the studied polymorphisms and disease risk, age and site of onset. We observed a statistically significant difference in XRCC1 Gln399 allele frequencies between SALS cases and controls (0.39/0.28; p=0.001). The present study suggests that the XRCC1 Arg399Gln polymorphism might contribute to SALS risk.

  7. Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Zanusso, Gianluigi; Camporese, Giulia; Ferrari, Sergio; Santelli, Luca; Bongianni, Matilde; Fiorini, Michele; Monaco, Salvatore; Manara, Renzo; Cagnin, Annachiara

    2016-10-01

    An asymptomatic 74-year-old woman, on follow-up for a carotid body tumor, showed magnetic resonance imaging (MRI) focal restricted diffusion confined to the left temporal and occipital cortices. Thirteen months later, diffusion-weighted images revealed a bilateral cortical ribbon sign involving all lobes. After 1 month, the patient developed gait instability and cognitive decline rapidly evolving to severe dementia and death within 3 months. Prion protein gene sequence, molecular, and neuropathological studies confirmed the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 subtype. Here we show the kinetics of MRI changes and prion spreading in preclinical sCJD MM1. Ann Neurol 2016;80:629-632. © 2016 American Neurological Association.

  8. Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Bratosiewicz-Wąsik, Jolanta; Smoleń-Dzirba, Joanna; Rozemuller, Annemieke J.; Jansen, Casper; Spliet, Wim; Jansen, Gerard H.; Wąsik, Tomasz J.; Liberski, Paweł P.

    2012-01-01

    Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. The etiology of sporadic form of CJD remains unsolved. In addition to the codon 129 polymorphism, polymorphisms in the non-coding region of PRNP are considered as important factors in sCJD development. To assess a possible association between PRNP 1368 SNP and sCJD, we compared the genotype, allele and haplotype frequencies of the 1368 SNP among 46 sCJD patients of Dutch origin with the respective frequencies in healthy controls. We detected a significant association between sCJD and 1368T/T genotype. A significant difference was also observed in 1368 alleles’ distribution. In the haplotype analysis, haplotype 1368C-129G was associated with decreased risk of sCJD in Dutch population. Our findings support the hypothesis that genetic variations in the regulatory region of the PRNP gene may influence the pathogenesis of sCJD. PMID:22895088

  9. MRI manifestation for the diagnosis of sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Xue Yonggang; Qi Ji; Xia Shuang

    2007-01-01

    Objective: To study the MRI features of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: Three patients with clinically diagnosed sCJD underwent MR study, including SE T 1 WI, FSE T 2 WI, and DWI sequences. The MR imaging features were analyzed. Results: The lesions were not definite either in SE T 1 WI or in FSE T 2 WI, but were prominent in DWI. Abnormal hyperintensive signal appeared in the cerebral cortex, with the frontal, parietal, and occipital lobes being the mostly involved region. The subcortical white matter was normal. The bilateral caudate nuclei and thalami could also be involved. The abnormal signal could be either symmetrical or asymmetrical. There was diffuse atrophy of the brain parenchyma in the late phase of disease, especially in the cortex. Conclusion: With the application of MR study, especially the DWI, combined with its characteristic clinical manifestation, the diagnosis of sCJD can be made definitely. (authors)

  10. Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Karch, André; Hermann, Peter; Ponto, Claudia; Schmitz, Matthias; Arora, Amandeep; Zafar, Saima; Llorens, Franc; Müller-Heine, Annika; Zerr, Inga

    2015-05-01

    The molecular subtype of sporadic Creutzfeldt-Jakob disease (sCJD) is an important prognostic marker for patient survival. However, subtype determination is not possible during lifetime. Because the rate of disease progression is associated with the molecular subtype, this study aimed at investigating if total tau, a marker of neuronal death, allows premortem diagnosis of molecular subtype when codon 129 genotype is known. Two hundred ninety-six sCJD patients were tested for their cerebrospinal fluid total tau level at the time of diagnosis and were investigated for their sCJD subtype postmortem. There was a significant association between tau levels and the prion protein type in patients with codon 129 MM (p disease. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Bielewicz, Joanna; Szczepańska-Szerej, Anna; Ogórek, Magdalena; Dropko, Piotr; Wojtal, Katarzyna; Rejdak, Konrad

    2018-03-04

    We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14-3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.

  12. Environmental risk factors for sporadic acoustic neuroma (Interphone Study Group, Germany)

    DEFF Research Database (Denmark)

    Schlehofer, B; Schlaefer, K; Blettner, M

    2007-01-01

    The only known risk factor for sporadic acoustic neuroma is high-dose ionising radiation. Environmental exposures, such as radiofrequency electromagnetic fields and noise are under discussion, as well as an association with allergic diseases. We performed a population-based case-control study.......31; 95% CI 1.15-4.66), and for hay fever (OR=2.20; 95% CI 1.09-4.45), but not for ionising radiation (OR=0.91; 95 % CI 0.51-1.61) or regular mobile phone use (OR=0.67; 95% CI 0.38-1.19). The study confirms results of recently published studies, although the pathogenetic mechanisms are still unknown....

  13. Four Sporadic Pediatric Cases of Yersinia enterocolitica O:8 Infection in a Rural Area of Japan.

    Science.gov (United States)

    Minami, Kisei; Yasuda, Ryu; Terakawa, Runa; Koike, Yumi; Takeuchi, Koichi; Higuchi, Tsukasa; Horiuchi, Ayaka; Kubota, Noriko; Hidaka, Eiko; Kawakami, Yoshiyuki

    2017-03-24

    In the spring of 2015, we experienced a cluster of 4 sporadic cases of yersiniosis in children in Nagano prefecture, a rural area of Japan. Two patients developed appendicitis-like episodes; one had acute gastroenteritis, and the other had bacteremia associated with liver abscess. The causative agent of these infections was Yersinia enterocolitica serogroup O:8. None of the patients had an underlying illness, and all have recovered completely. The patients were neither socially nor geographically related to each other. These 4 consecutive cases suggest that Y. enterocolitica O:8 has spread substantially in the middle part of Japan, and that this virulent strain might be more common than previously reported in our country.

  14. Evolution of a neutral-ion 2 fluid system using thermal lattice Boltzmann model

    International Nuclear Information System (INIS)

    Vahala, L.; Vahala, G.; Carter, J.; Pavlo, P.

    2000-01-01

    The 2D evolution of a 2-species system is examined using the thermal lattice Boltzmann model (TLBM). The effects of velocity shear layers on sharp heat fronts are considered for a neutral-ion system in the case where both species are turbulent. The rate at which the species velocities and temperatures equilibrate no longer follow the Morse estimate. (author)

  15. Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

    Directory of Open Access Journals (Sweden)

    Alexandra V Stavropoulou

    Full Text Available Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24. In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6% of familial cancer cases and in 27/592 (4.6% of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%. The majority of BRCA1 carriers (71.2% presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

  16. Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

    Directory of Open Access Journals (Sweden)

    Peter Vasovcak

    Full Text Available The Czech Republic has one of the highest incidences of colorectal cancer (CRC in Europe. To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH at the APC locus, microsatellite instability (MSI, and methylation of the MLH1 promoter in 103 tumours from 102 individuals. The most frequently mutated gene was APC (68.9% of tumours, followed by KRAS (31.1%, TP53 (27.2%, BRAF (8.7% and CTNNB1 (1.9%. Heterozygous germline MUTYH mutations in 2 patients were unlikely to contribute to the development of their CRCs. LOH at the APC locus was found in 34.3% of tumours, MSI in 24.3% and MLH1 methylation in 12.7%. Seven tumours (6.9% were without any changes in the genes tested. The analysis yielded several findings possibly specific for the Czech cohort. Somatic APC mutations did not cluster in the mutation cluster region (MCR. Tumours with MSI but no MLH1 methylation showed earlier onset and more severe mutational profiles compared to MSI tumours with MLH1 methylation. TP53 mutations were predominantly located outside the hot spots, and transitions were underrepresented. Our analysis supports the observation that germline MUTYH mutations are rare in Czech individuals with sporadic CRCs. Our findings suggest the influence of specific ethnic genetic factors and/or lifestyle and dietary habits typical for the Czech population on the development of these cancers.

  17. The subcatchment- and catchment-scale hydrology of a boreal headwater peatland complex with sporadic permafrost.

    Science.gov (United States)

    Sonnentag, O.; Helbig, M.; Connon, R.; Hould Gosselin, G.; Ryu, Y.; Karoline, W.; Hanisch, J.; Moore, T. R.; Quinton, W. L.

    2017-12-01

    The permafrost region of the Northern Hemisphere has been experiencing twice the rate of climate warming compared to the rest of the Earth, resulting in the degradation of the cryosphere. A large portion of the high-latitude boreal forests of northwestern Canada grows on low-lying organic-rich lands with relative warm and thin isolated, sporadic and discontinuous permafrost. Along this southern limit of permafrost, increasingly warmer temperatures have caused widespread permafrost thaw leading to land cover changes at unprecedented rates. A prominent change includes wetland expansion at the expense of Picea mariana (black spruce)-dominated forest due to ground surface subsidence caused by the thawing of ice-rich permafrost leading to collapsing peat plateaus. Recent conceptual advances have provided important new insights into high-latitude boreal forest hydrology. However, refined quantitative understanding of the mechanisms behind water storage and movement at subcatchment and catchment scales is needed from a water resources management perspective. Here we combine multi-year daily runoff measurements with spatially explicit estimates of evapotranspiration, modelled with the Breathing Earth System Simulator, to characterize the monthly growing season catchment scale ( 150 km2) hydrological response of a boreal headwater peatland complex with sporadic permafrost in the southern Northwest Territories. The corresponding water budget components at subcatchment scale ( 0.1 km2) were obtained from concurrent cutthroat flume runoff and eddy covariance evapotranspiration measurements. The highly significant linear relationships for runoff (r2=0.64) and evapotranspiration (r2=0.75) between subcatchment and catchment scales suggest that the mineral upland-dominated downstream portion of the catchment acts hydrologically similar to the headwater portion dominated by boreal peatland complexes. Breakpoint analysis in combination with moving window statistics on multi

  18. Rainfall is a risk factor for sporadic cases of Legionella pneumophila pneumonia.

    Directory of Open Access Journals (Sweden)

    Carolina Garcia-Vidal

    Full Text Available It is not known whether rainfall increases the risk of sporadic cases of Legionella pneumonia. We sought to test this hypothesis in a prospective observational cohort study of non-immunosuppressed adults hospitalized for community-acquired pneumonia (1995-2011. Cases with Legionella pneumonia were compared with those with non-Legionella pneumonia. Using daily rainfall data obtained from the regional meteorological service we examined patterns of rainfall over the days prior to admission in each study group. Of 4168 patients, 231 (5.5% had Legionella pneumonia. The diagnosis was based on one or more of the following: sputum (41 cases, antigenuria (206 and serology (98. Daily rainfall average was 0.556 liters/m(2 in the Legionella pneumonia group vs. 0.328 liters/m(2 for non-Legionella pneumonia cases (p = 0.04. A ROC curve was plotted to compare the incidence of Legionella pneumonia and the weighted median rainfall. The cut-off point was 0.42 (AUC 0.54. Patients who were admitted to hospital with a prior weighted median rainfall higher than 0.42 were more likely to have Legionella pneumonia (OR 1.35; 95% CI 1.02-1.78; p = .03. Spearman Rho correlations revealed a relationship between Legionella pneumonia and rainfall average during each two-week reporting period (0.14; p = 0.003. No relationship was found between rainfall average and non-Legionella pneumonia cases (-0.06; p = 0.24. As a conclusion, rainfall is a significant risk factor for sporadic Legionella pneumonia. Physicians should carefully consider Legionella pneumonia when selecting diagnostic tests and antimicrobial therapy for patients presenting with CAP after periods of rainfall.

  19. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

    Directory of Open Access Journals (Sweden)

    Celeste Sassi

    Full Text Available The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP, is a central event in Alzheimer's disease (AD(Amyloid hypothesis. Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 genes involved in APP processing, Aβ degradation and clearance. We then used exome and genome sequencing to investigate the single independent (single-variant association test and cumulative (gene-based association test effect of coding variants in these genes as potential susceptibility factors for AD, in a cohort composed of 332 sporadic and mainly late-onset AD cases and 676 elderly controls from North America and the UK. Our study shows that common coding variability in these genes does not play a major role for the disease development. In the single-variant association analysis, the main hits, none of which statistically significant after multiple testing correction (1.9e-4sporadic AD.

  20. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Chiò, Adriano; Schymick, Jennifer C; Restagno, Gabriella; Scholz, Sonja W; Lombardo, Federica; Lai, Shiao-Lin; Mora, Gabriele; Fung, Hon-Chung; Britton, Angela; Arepalli, Sampath; Gibbs, J Raphael; Nalls, Michael; Berger, Stephen; Kwee, Lydia Coulter; Oddone, Eugene Z; Ding, Jinhui; Crews, Cynthia; Rafferty, Ian; Washecka, Nicole; Hernandez, Dena; Ferrucci, Luigi; Bandinelli, Stefania; Guralnik, Jack; Macciardi, Fabio; Torri, Federica; Lupoli, Sara; Chanock, Stephen J; Thomas, Gilles; Hunter, David J; Gieger, Christian; Wichmann, H Erich; Calvo, Andrea; Mutani, Roberto; Battistini, Stefania; Giannini, Fabio; Caponnetto, Claudia; Mancardi, Giovanni Luigi; La Bella, Vincenzo; Valentino, Francesca; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Marinou, Kalliopi; Sabatelli, Mario; Conte, Amelia; Mandrioli, Jessica; Sola, Patrizia; Salvi, Fabrizio; Bartolomei, Ilaria; Siciliano, Gabriele; Carlesi, Cecilia; Orrell, Richard W; Talbot, Kevin; Simmons, Zachary; Connor, James; Pioro, Erik P; Dunkley, Travis; Stephan, Dietrich A; Kasperaviciute, Dalia; Fisher, Elizabeth M; Jabonka, Sibylle; Sendtner, Michael; Beck, Marcus; Bruijn, Lucie; Rothstein, Jeffrey; Schmidt, Silke; Singleton, Andrew; Hardy, John; Traynor, Bryan J

    2009-04-15

    The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 [odds ratio (OR) = 1.17 and 1.18, and P-values = 6.98 x 10(-7) and 1.16 x 10(-6)], were located on chromosome 7p13.3 within a 175 kb linkage disequilibrium block containing the SUNC1, HUS1 and C7orf57 genes. These associations did not achieve genome-wide significance in the original cohort and failed to replicate in an additional independent cohort of 989 US cases and 327 controls (OR = 1.18 and 1.19, P-values = 0.08 and 0.06, respectively). Thus, we chose to cautiously interpret our data as hypothesis-generating requiring additional confirmation, especially as all previously reported loci for ALS have failed to replicate successfully. Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study. Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors.

  1. Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Appel, S; Chapman, J; Cohen, O S; Rosenmann, H; Nitsan, Z; Blatt, I

    2015-03-01

    Although seizures (other than myoclonus) are frequently reported in Creutzfeldt-Jakob disease (CJD), their frequency, clinical manifestations, and effect on the disease course is unknown. To characterize the frequency of seizures in E200K familial and sporadic CJD, to describe its semiology, EEG and MRI findings. In this retrospective study, we reviewed all patients with CJD who were seen in the Sheba Medical Center between the years 2003-2012 and underwent clinical evaluation, genetic testing, EEG and MRI studies. The diagnosis of seizures was carried out based on documentation of episodes consistent with seizures or episode of unresponsiveness correlated with ictal activity in EEG. Sixty-four probable patients with CJD were included in the study, 57 (89%) with E200K familial (fCJD) and 7 (11%) with sporadic (sCJD). Seizures occurred in 8 patients: 3 of 7 (43%) in patients with sCJD compared to 5/57 (9%) in patients with E200K fCJD (P = 0.04, chi-square test). Two of E200K fCJD patients with seizures had other non-prion etiologies for seizures (brain metastasis, known history of temporal lobe epilepsy which started 44 years before the diagnosis of CJD). Seizures occurred late in the course of the disease with an average of 12 days between the onset of seizures and death. Seizures in E200K fCJD were infrequent and occurred late in the disease course. This difference suggests that E200K fCJD represents a separate subtype of the disease with distinct clinical characteristics. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

    Science.gov (United States)

    Daly, Adrian F; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W; Naves, Luciana A; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R; Stratakis, Constantine A; Beckers, Albert

    2016-04-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101 We studied XLAG syndrome patients (n= 18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome caused by Xq26.3 duplications were identified using high-definition array comparative genomic hybridization (HD-aCGH). We noted that males with XLAG had a decreased log2ratio (LR) compared with expected values, suggesting potential mosaicism, whereas females showed no such decrease. Compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1 and 53.8%. These characteristics were replicated using a novel, personalized breakpoint junction-specific quantification droplet digital polymerase chain reaction (ddPCR) technique. Using a separate ddPCR technique, we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism, and identified one female gigantism patient who had had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. © 2016 Society for Endocrinology.

  3. Somatic Mosaicism Underlies X-linked Acrogigantism (XLAG) Syndrome in Sporadic Male Subjects

    Science.gov (United States)

    Daly, Adrian F.; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W.; Naves, Luciana A.; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J.; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R.; Stratakis, Constantine A.; Beckers., Albert

    2016-01-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. PMID:26935837

  4. Irrelevance of microsatellite instability in the epidemiology of sporadic pancreatic ductal adenocarcinoma.

    Directory of Open Access Journals (Sweden)

    Luigi Laghi

    Full Text Available Pancreatic cancer risk is increased in Lynch syndrome (LS patients with mismatch repair gene defects predisposing to colonic and extracolonic cancers with microsatellite instability (MSI. However, the frequency of MSI pancreatic cancers has never been ascertained in consecutive, unselected clinical series, and their contribution to the sporadic and inherited burden of pancreatic cancer remains to be established. Aims of the study were to determine the prevalence of MSI in surgically resected pancreatic cancers in a multicentric, retrospective study, and to assess the occurrence of pancreatic cancer in LS.MS-status was screened by a panel of 5 mononucleotide repeats (Bat26, Bat25, NR-21, NR-24 and NR-27 in 338 consecutive pancreatic ductal adenocarcinoma (PDAC, resected at two Italian and one German referral centres. The personal history of pancreatic cancer was assessed in an independent set of 58 probands with LS and in 138 first degree relatives who had cancers.Only one PDAC (0.3% showed MSI. This was a medullary type cancer, with hMLH1-deficiency, and no identified germ-line mutation but methylation of hMLH1. Pancreatic cancer occurred in 5 (2.5% LS patients. Histological sampling was available for 2 cases, revealing PDAC in one case and an ampullary cancer in the other one.MSI prevalence is negligible in sporadic, resected PDAC. Differently, the prevalence of pancreatic cancer is 2.5% in LS patients, and cancers other than PDAC may be encountered in this setting. Surveillance for pancreatic cancer should be advised in LS mutation carriers at referral centers.

  5. A comparison between Lynch syndrome and sporadic colorectal cancer survivors' satisfaction with their healthcare providers.

    Science.gov (United States)

    Burton-Chase, Allison M; Parker, Wendy M; Polivka, Katrina M; Gritz, Ellen R; Amos, Christopher I; Lu, Karen H; Lynch, Patrick M; Rodriguez-Bigas, Miguel A; Nancy You, Y; Peterson, Susan K

    2017-03-01

    This study evaluated provider satisfaction in a sample of colorectal cancer (CRC) survivors with and without Lynch syndrome (LS). Participants were case-case-matched CRC survivors with (n = 75) or without (n = 75) LS (mean age of 55; range: 27-93). Participants completed a mailed questionnaire assessing demographics, clinical characteristics, healthcare utilization, psychosocial variables, and provider satisfaction. LS CRC survivors reported lower provider satisfaction scores on three subscales of the Primary Care Assessment Survey: communication (78.14 vs. 83.96; P < 0.05), interpersonal treatment (78.58 vs. 85.30; P < 0.05), and knowledge of the patient (60.34 vs. 69.86; P < 0.01). Among LS CRC survivors, predictors for mean communication and trust subscale scores were location of treatment and socioeconomic status. Higher mean depression scores also were associated with trust, while social support predicted higher satisfaction with communication. Sporadic CRC survivor satisfaction is driven largely by age (communication, interpersonal treatment) and patient anxiety (communication), while seeing a provider more often was associated with increased satisfaction with knowledge of the patient. LS CRC survivors reported lower levels of provider satisfaction than sporadic CRC survivors. LS survivors who received care at The University of Texas MD Anderson Cancer Center, a comprehensive cancer center (CCC), reported higher satisfaction than those receiving care at other institutions. Depressive symptoms and socioeconomic status may impact provider satisfaction ratings. Exploration of other potential predictors of provider satisfaction should be examined in this population. Additionally, further research is needed to examine the potential impact of provider satisfaction on adherence to medical recommendations in LS CRC survivors, particularly those being treated outside of CCCs. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  6. The status of neutral currents

    International Nuclear Information System (INIS)

    Zwirner, F.

    1987-11-01

    The situation of particle physics today is quite puzzling. On the one hand, the Standard Model (SM) of strong and electroweak interactions is consistent with all confirmed experimental data but theoretically rather unsatisfactory. On the other hand, none of the many theoretical speculations which try to go beyond the SM has (yet) received the slightest experimental support. The solution to this dilemma can only come from new data: either from the detection of a new particle threshold at high energy colliders, or from the appearance of some small discrepancy in high-precision experiments. A crucial sector for testing the SM and its extensions is that of neutral currents (NC), where an impressive amount of data has been collected in recent years. While waiting for the next generation of experiments, it is certainly useful to take stock of our knowledge, determining the NC parameters as precisely as we can and putting limits on possible deviations from the SM. The present talk contains the results of a recent analysis along these lines: the first part illustrates how a set of 'model-independent' parameters can be extracted from the available NC data, the second part particularizes the analysis to the SM and to some superstring-inspired models with an additional Z' in their low-energy spectrum. 27 refs., 3 figs., 1 tab

  7. Auditors' Professional Skepticism: Neutrality versus Presumptive Doubt

    NARCIS (Netherlands)

    Groot, T.L.C.M.; Quadackers, L.M.; Wright, A.

    2014-01-01

    Although skepticism is widely viewed as essential to audit quality, there is a debate about what form is optimal. The two prevailing perspectives that have surfaced are "neutrality" and "presumptive doubt." With neutrality, auditors neither believe nor disbelieve client management. With presumptive

  8. 32 CFR 644.323 - Neutral language.

    Science.gov (United States)

    2010-07-01

    ... 32 National Defense 4 2010-07-01 2010-07-01 true Neutral language. 644.323 Section 644.323 National Defense Department of Defense (Continued) DEPARTMENT OF THE ARMY (CONTINUED) REAL PROPERTY REAL ESTATE HANDBOOK Disposal § 644.323 Neutral language. Wherever the words “man”, “men”, or their related...

  9. 3He neutral current detectors at SNO

    International Nuclear Information System (INIS)

    Elliott, S.R.; Browne, M.C.; Doe, P.J.

    1998-01-01

    The flux of solar neutrinos measured via charged and neutral current interactions can provide a model independent test of neutrino oscillations. Since the Sudbury Neutrino Observatory uses heavy water as a target, it has a large sensitivity to both interactions. A technique for observing the neutral current breakup of the deuteron using 3 He proportional counters is described

  10. Photoproduction of neutral pions off protons

    NARCIS (Netherlands)

    Crede, V.; Sparks, N.; Wilson, A.; Anisovich, A. V.; Bacelar, J. C. S.; Bantes, R.; Bartholomy, O.; Bayadilov, D.; Beck, R.; Beloglazov, Y. A.; Castelijns, R.; Dutz, H.; Elsner, D.; Ewald, R.; Frommberger, F.; Funke, Chr; Gregor, R.; Gridnev, A.; Gutz, E.; Hillert, W.; Hoffmeister, P.; Jaegle, I.; Junkersfeld, J.; Kalinowsky, H.; Kammer, S.; Klein, Frank; Klein, Friedrich; Klempt, E.; Kotulla, M.; Krusche, B.; Löhner, H.; Lopatin, I. V.; Lugert, S.; Menze, D.; Mertens, T.; Messchendorp, J. G.; Metag, V.; Nanova, M.; Nikonov, V. A.; Novinski, D.; Novotny, R.; Ostrick, M.; Pant, L. M.; van Pee, H.; Pfeiffer, M.; Roy, A.; Sarantsev, A. V.; Schadmand, S.; Schmidt, C.; Schmieden, H.; Schoch, B.; Shende, S.; Sokhoyan, V.; Suele, A.; Sumachev, V. V.; Szczepanek, T.; Thoma, U.; Trnka, D.; Varma, R.; Walther, D.; Wendel, Ch

    2011-01-01

    Photoproduction of neutral pions has been studied with the CBELSA/TAPS detector in the reaction gamma p -> p pi(0) for photon energies between 0.85 and 2.50 GeV. The pi(0) mesons are observed in their dominant neutral decay mode: pi(0) -> gamma gamma. For the first time, the differential cross

  11. On the possible eigenoscillations of neutral sheets

    International Nuclear Information System (INIS)

    Almeida, W.A.; Costa, J.M. da; Aruquipa, E.G.; Sudano, J.P.

    1974-12-01

    A neutral sheet model with hyperbolic tangent equilibrium magnetic field and hyperbolic square secant density profiles is considered. It is shown that the equation for small oscillations takes the form of an eigenvalue oscillation problem. Computed eigenfrequencies of the geomagnetic neutral sheet were found to be in the range of the resonant frequencies of the geomagnetic plasma sheet computed by other authors

  12. Gender Neutrality: Women's Friend or Foe?

    Science.gov (United States)

    Steuernagel, Trudy

    Gender neutral public policies are those that are either silent on the question of the existence of significant gender differences or incorporate a perspective which mandates that such differences be ignored. Prominent voices today contend that gender neutrality favors males and have held the male standard as the one for which women should aspire.…

  13. Targets for high power neutral beams

    International Nuclear Information System (INIS)

    Kim, J.

    1980-01-01

    Stopping high-power, long-pulse beams is fast becoming an engineering challenge, particularly in neutral beam injectors for heating magnetically confined plasmas. A brief review of neutral beam target technology is presented along with heat transfer calculations for some selected target designs

  14. Net Neutrality and Inflation of Traffic

    NARCIS (Netherlands)

    Peitz, M.; Schütt, F.

    2015-01-01

    Under strict net neutrality Internet service providers (ISPs) are required to carry data without any differentiation and at no cost to the content provider. We provide a simple framework with a monopoly ISP to evaluate different net neutrality rules. Content differs in its sensitivity to delay.

  15. Net neutrality and inflation of traffic

    NARCIS (Netherlands)

    Peitz, M.; Schütt, Florian

    Under strict net neutrality Internet service providers (ISPs) are required to carry data without any differentiation and at no cost to the content provider. We provide a simple framework with a monopoly ISP to evaluate the short-run effects of different net neutrality rules. Content differs in its

  16. Neutralization of wastewater from nitrite passivation

    International Nuclear Information System (INIS)

    Pawlowski, L.; Mientki, B.; Wasag, H.

    1982-01-01

    A method for neutralization of wastewater formed in nitrite passivation has been presented. The method consists of introducing urea into wastewater and acidifying it with sulphuric acid. Wastewater is neutralized with lime. After clarification, wastewater can be drained outside the plant

  17. A neutral sampling formula for multiple samples and an `exact' test of neutrality

    NARCIS (Netherlands)

    Etienne, R.S.

    2007-01-01

    As the utility of the neutral theory of biodiversity is increasingly being recognized, there is also an increasing need for proper tools to evaluate the relative importance of neutral processes (dispersal limitation and stochasticity). One of the key features of neutral theory is its close link to

  18. A neutral sampling formula for multiple samples and an 'exact' test of neutrality

    NARCIS (Netherlands)

    Etienne, Rampal S.

    As the utility of the neutral theory of biodiversity is increasingly being recognized, there is also an increasing need for proper tools to evaluate the relative importance of neutral processes (dispersal limitation and stochasticity). One of the key features of neutral theory is its close link to

  19. Neutral beam in ALVAND IIC tokamak

    International Nuclear Information System (INIS)

    Ghrannevisse, M.; Moradshahi, M.; Avakian, M.

    1992-01-01

    Neutral beams have a wide application in tokamak experiments. It used to heat; fuel; adjust electric potentials in plasmas and diagnose particles densities and momentum distributions. It may be used to sustain currents in tokamaks to extend the pulse length. A 5 KV; 500 mA ion source has been constructed by plasma physics group, AEOI and it used to produce plasma and study the plasma parameters. Recently this ion source has been neutralized and it adapted to a neutral beam source; and it used to heat a cylindrical DC plasma and the plasma of ALVAND IIC Tokamak which is a small research tokamak with a minor radius of 12.6 cm, and a major radius of 45.5 cm. In this paper we report the neutralization of the ion beam and the results obtained by injection of this neutral beam into plasmas. (author) 2 refs., 4 figs

  20. Tax Neutrality on International Capital Investments

    Directory of Open Access Journals (Sweden)

    Gizem KAPUCU

    2017-07-01

    Full Text Available The tax policies which states follow with regard to developing technology and capital investments with raising mobility due to globalism are need to be discussed in its legal basis. The principle of tax neutrality has the aim of being legal foundation for these policies. According to this, the neutrality principle in taxation of international capital investments is provided with two measures, namely; not effecting the investment decision and not discriminate between investments. In this paper, initially focused on the conceptual framework and the foundations of the tax neutrality principle and later capital export neutrality and capital import neutrality are considered and explained with regard to international capital movements. Moreover, conformity and diversion to the principle of the current situation and regulations in OECD, EU and Turkey are examined.

  1. Sputtering of neutral and ionic indium clusters

    International Nuclear Information System (INIS)

    Ma, Z.; Coon, S.R.; Calaway, W.F.; Pellin, M.J.; Gruen, D.M.; Von Nagy-Felsobuki, E.I.

    1993-01-01

    Secondary neutral and secondary ion cluster yields were measured during the sputtering of a polycrystalline indium surface by normally incident ∼4 keV Ar + ions. In the secondary neutral mass spectra, indium clusters as large as In 32 were observed. In the secondary ion mass spectra, indium clusters up to In 18 + were recorded. Cluster yields obtained from both the neutral and ion channel exhibited a power law dependence on the number of constituent atoms, n, in the cluster, with the exponents measured to be -5.6 and -4. 1, respectively. An abundance drop was observed at n=8, 15, and 16 in both the neutral and ion yield distributions suggesting that the stability of the ion (either secondary ion or photoion) plays a significant role in the observed distributions. In addition, our experiments suggest that unimolecular decomposition of the neutral cluster may also plays an important role in the measured yield distributions

  2. Neutral-beam-heating applications and development

    International Nuclear Information System (INIS)

    Menon, M.M.

    1981-01-01

    The technique of heating the plasma in magnetically confined fusion devices by the injection of intense beams of neutral atoms is described. The basic principles governing the physics of neutral beam heating and considerations involved in determining the injection energy, power, and pulse length required for a fusion reactor are discussed. The pertinent experimental results from various fusion devices are surveyed to illustrate the efficacy of this technique. The second part of the paper is devoted to the technology of producing the neutral beams. A state-of-the-art account o the development of neutral injectors is presented, and the prospects for utilizing neutral injection to heat the plasma in a fusion reactor are examined

  3. ORNL neutral-beam program in 1978

    International Nuclear Information System (INIS)

    Whealton, J.H.

    1982-12-01

    This report was presented at the ion source workshop held at Culham Laboratory, Abingdon, Oxfordshire, in 1978. Because the proceedings of that conference are unavailable, and because the material in this report is still not to be found elsewhere, it is issued as a laboratory report. The neutral beam group at Oak Ridge National Laboratory has constructed neutral beam generators for the ORMAK and PLT devices, is presently constructing neutral beam devices for the ISX and PDX devices, and is contemplating the construction of neutral beam systems for the advanced TNS device. These neutral beam devices stem from the pioneering work on ion sources of G.G. Kelley and O.B. Morgan. We describe the ion sources under development at this laboratory, the beam optics exhibited by these sources, as well as some theoretical considerations, and finally the remainder of the beamline design

  4. The internal boundary layer — A review

    Science.gov (United States)

    Garratt, J. R.

    1990-03-01

    A review is given of relevant work on the internal boundary layer (IBL) associated with: (i) Small-scale flow in neutral conditions across an abrupt change in surface roughness, (ii) Small-scale flow in non-neutral conditions across an abrupt change in surface roughness, temperature or heat/moisture flux, (iii) Mesoscale flow, with emphasis on flow across the coastline for both convective and stably stratified conditions. The major theme in all cases is on the downstream, modified profile form (wind and temperature), and on the growth relations for IBL depth.

  5. Sporadic colorectal cancer and individual susceptibility: A review of the association studies investigating the role of DNA repair genetic polymorphisms

    Czech Academy of Sciences Publication Activity Database

    Naccarati, Alessio; Pardini, B.; Hemminki, K.; Vodička, Pavel

    2007-01-01

    Roč. 635, 2-3(2007), s.118-145 ISSN 1383-5742 R&D Projects: GA MZd NR8563; GA ČR GA310/05/2626 Institutional research plan: CEZ:AV0Z50390512 Keywords : Sporadic colorectal cancer * Individual susceptibility * DNA repair Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.353, year: 2007

  6. Source attribution of human salmonellosis using a meta-analysis of case-control studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hisham Beshara Halasa, Tariq

    2012-01-01

    Salmonella is an important cause of human illness. Disease is frequently associated with foodborne transmission, but other routes of exposure are recognized. Identifying sources of disease is essential for prioritizing public health interventions. Numerous case-control studies of sporadic salmone...

  7. Nosocomial transmission of sporadic Creutzfeldt-Jakob disease: results from a risk-based assessment of surgical interventions

    DEFF Research Database (Denmark)

    de Pedro-Cuesta, Jesús; Mahillo-Fernández, Ignacio; Rábano, Alberto

    2011-01-01

    Evidence of surgical transmission of sporadic Creutzfeldt-Jakob disease (sCJD) remains debatable in part due to misclassification of exposure levels. In a registry-based case-control study, the authors applied a risk-based classification of surgical interventions to determine the association...

  8. Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization

    DEFF Research Database (Denmark)

    Jensen, Thomas Dyrsø; Li, Jian; Wang, Kai

    2011-01-01

    cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material...

  9. When does ALS start? ADAR2-GluA2 hypothesis for the etiology of sporadic ALS

    Directory of Open Access Journals (Sweden)

    Takuto eHideyama

    2011-11-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is the most common adult-onset motor neuron disease. More than 90% of ALS cases are sporadic, and the majority of sporadic ALS patients do not carry mutations in genes causative of familial ALS; therefore, investigation specifically targeting sporadic ALS is needed to discover the pathogenesis. The motor neurons of sporadic ALS patients express unedited GluA2 mRNA at the Q/R site in a disease-specific and motor neuron-selective manner. GluA2 is a subunit of the AMPA receptor, and it has a regulatory role in the Ca2+-permeability of the AMPA receptor after the genomic Q codon is replaced with the R codon in mRNA by adenosine-inosine conversion, which is mediated by adenosine deaminase acting on RNA 2 (ADAR2. Therefore, ADAR2 activity may not be sufficient to edit all GluA2 mRNA expressed in the motor neurons of ALS patients. To investigate whether deficient ADAR2 activity plays pathogenic roles in sporadic ALS, we generated genetically modified mice (AR2 in which the ADAR2 gene was conditionally knocked out in the motor neurons. AR2 mice showed an ALS-like phenotype with the death of ADAR2-lacking motor neurons. Notably, the motor neurons deficient in ADAR2 survived when they expressed only edited GluA2 in AR2/GluR-BR/R (AR2res mice, in which the endogenous GluA2 alleles were replaced by the GluR-BR allele that encoded edited GluA2. In heterozygous AR2 mice with only one ADAR2 allele, approximately 20% of the spinal motor neurons expressed unedited GluA2 and underwent degeneration, indicating that half-normal ADAR2 activity is not sufficient to edit all GluA2 expressed in motor neurons. It is likely therefore that the expression of unedited GluA2 causes the death of motor neurons in sporadic ALS. We hypothesize that a progressive downregulation of ADAR2 activity plays a critical role in the pathogenesis of sporadic ALS and that the pathological process commences when motor neurons express unedited GluA2.

  10. The survival of patients with Stage III Colon Cancer is improved in HNPCC compared with sporadic cases. A Danish registry based study

    DEFF Research Database (Denmark)

    Brixen, Line Merrild; Bernstein, Inge Thomsen; Bülow, Steffen

    2013-01-01

    AIM: Patients with hereditary non-polyposis colorectal cancer (HNPCC) seem to have a better prognosis than those with sporadic colon cancer (CC)s. The aim was to compare survival after stage III CC in patients with HNPCC with those having sporadic CC. METHOD: 230 patients with hereditary cancer...... from The Danish HNPCC-Register and 3557 patients with sporadic CC from The Danish Colorectal Cancer Database, diagnosed during May 2001-December 2008 were included. HNPCC patients were classified according to Mismatch Repair mutation status and family pedigree. Sporadic cases had no known family...... history of cancer. Patient characteristics, geographic differences and survival data were analyzed. RESULTS: The overall survival (OS) was better in HNPCC patients compared to sporadic CC after stratification for sex and age (p=0.02; CI 1.04-1.7). The 5-year survival was 70% in HNPCC patients compared...

  11. Gender- and age-dependent gamma-secretase activity in mouse brain and its implication in sporadic Alzheimer disease.

    Directory of Open Access Journals (Sweden)

    Lisa Placanica

    Full Text Available Alzheimer disease (AD is an age-related disorder. Aging and female gender are two important risk factors associated with sporadic AD. However, the mechanism by which aging and gender contribute to the pathogenesis of sporadic AD is unclear. It is well known that genetic mutations in gamma-secretase result in rare forms of early onset AD due to the aberrant production of Abeta42 peptides, which are the major constituents of senile plaques. However, the effect of age and gender on gamma-secretase has not been fully investigated. Here, using normal wild-type mice, we show mouse brain gamma-secretase exhibits gender- and age-dependent activity. Both male and female mice exhibit increased Abeta42ratioAbeta40 ratios in aged brain, which mimics the effect of familial mutations of Presenilin-1, Presenlin-2, and the amyloid precursor protein on Abeta production. Additionally, female mice exhibit much higher gamma-secretase activity in aged brain compared to male mice. Furthermore, both male and female mice exhibit a steady decline in Notch1 gamma-secretase activity with aging. Using a small molecule affinity probe we demonstrate that male mice have less active gamma-secretase complexes than female mice, which may account for the gender-associated differences in activity in aged brain. These findings demonstrate that aging can affect gamma-secretase activity and specificity, suggesting a role for gamma-secretase in sporadic AD. Furthermore, the increased APP gamma-secretase activity seen in aged females may contribute to the increased incidence of sporadic AD in women and the aggressive Abeta plaque pathology seen in female mouse models of AD. In addition, deceased Notch gamma-secretase activity may also contribute to neurodegeneration. Therefore, this study implicates altered gamma-secretase activity and specificity as a possible mechanism of sporadic AD during aging.

  12. CARINA Satellite Mission to Investigate the Upper Atmosphere below the F-Layer Ionosphere

    Science.gov (United States)

    Siefring, C. L.; Bernhardt, P. A.; Briczinski, S. J., Jr.; Huba, J.; Montgomery, J. A., Jr.

    2017-12-01

    A new satellite design permits broad science measurements from the ocean to the ionosphere by flying below the F-Layer. The satellite called CARINA for Coastal-Ocean, Assimilation, Radio, Ionosphere, Neutral-Drag, and Atmospherics. The unique system capabilities are long duration orbits below the ionosphere and a HF receiver to measure broadband signals. The CARINA science products include recording the ocean surface properties, data for assimilation into global ionosphere models, radio wave propagation measurements, in-situ observations of ionospheric structures, validating neutral drag models and theory, and broadband atmospheric lightning characterization. CARINA will also measure nonlinear wave-generation using ionospheric modification sites in Alaska, Norway, Puerto Rico, and Russia and collaborate with geophysics HF radars (such as Super-DARN) for system calibration. CARINA is a linear 6-U CubeSat with a long antenna extended in the wake direction. The CARINA science mission is supported by three instruments. First, the Electric Field Instrument (EFI) is a radio receiver covering the 2 to 18 MHz range. The receiver can capture both narrow and wide bandwidths for up to 10 minutes. EFI is designed to provide HF signal strength and phase, radar Doppler shift and group delay, and electron plasma density from photoelectron excited plasma waves. Second a Ram Langmuir Probe (RLP) measures high-resolution ion currents at a 10 kHz rate. These measurements yield electron and ion density at the spacecraft. Finally, the Orbiting GPS Receiver (OGR) provides dual frequency GPS position with ionosphere correction. OGR also measures total electron content above the spacecraft and L-Band scintillations. CARINA will be the lowest satellite in orbit at 250 km altitude, <0.01 eccentricity, and up to 4-month lifetime. The design supports unique capabilities with broad applications to the geosciences. Remote sensing of the ocean will sample the HF signals scattered from the rough

  13. Feline Immunodeficiency Virus (FIV Neutralization: A Review

    Directory of Open Access Journals (Sweden)

    Margaret J. Hosie

    2011-10-01

    Full Text Available One of the major obstacles that must be overcome in the design of effective lentiviral vaccines is the ability of lentiviruses to evolve in order to escape from neutralizing antibodies. The primary target for neutralizing antibodies is the highly variable viral envelope glycoprotein (Env, a glycoprotein that is essential for viral entry and comprises both variable and conserved regions. As a result of the complex trimeric nature of Env, there is steric hindrance of conserved epitopes required for receptor binding so that these are not accessible to antibodies. Instead, the humoral response is targeted towards decoy immunodominant epitopes on variable domains such as the third hypervariable loop (V3 of Env. For feline immunodeficiency virus (FIV, as well as the related human immunodeficiency virus-1 (HIV-1, little is known about the factors that lead to the development of broadly neutralizing antibodies. In cats infected with FIV and patients infected with HIV-1, only rarely are plasma samples found that contain antibodies capable of neutralizing isolates from other clades. In this review we examine the neutralizing response to FIV, comparing and contrasting with the response to HIV. We ask whether broadly neutralizing antibodies are induced by FIV infection and discuss the comparative value of studies of neutralizing antibodies in FIV infection for the development of more effective vaccine strategies against lentiviral infections in general, including HIV-1.

  14. Net Neutrality: Media Discourses and Public Perception

    Directory of Open Access Journals (Sweden)

    Christine Quail

    2010-01-01

    Full Text Available This paper analyzes media and public discourses surrounding net neutrality, with particular attention to public utility philosophy, from a critical perspective. The article suggests that further public education about net neutrality would be beneficial. The first portion of this paper provides a survey of the existing literature surrounding net neutrality, highlighting the contentious debate between market-based and public interest perspectives. In order to contextualize the debate, an overview of public utility philosophy is provided, shedding light on how the Internet can be conceptualized as a public good. Following this discussion, an analysis of mainstream media is presented, exploring how the media represents the issue of net neutrality and whether or not the Internet is discussed through the lens of public utility. To further examine how the net neutrality debate is being addressed, and to see the potential impacts of media discourses on the general public, the results of a focus group are reported and analyzed. Finally, a discussion assesses the implications of the net neutrality debate as presented through media discourses, highlighting the future of net neutrality as an important policy issue.

  15. Large eddy simulation of atmospheric boundary layer over wind farms using a prescribed boundary layer approach

    DEFF Research Database (Denmark)

    Chivaee, Hamid Sarlak; Sørensen, Jens Nørkær; Mikkelsen, Robert Flemming

    2012-01-01

    Large eddy simulation (LES) of flow in a wind farm is studied in neutral as well as thermally stratified atmospheric boundary layer (ABL). An approach has been practiced to simulate the flow in a fully developed wind farm boundary layer. The approach is based on the Immersed Boundary Method (IBM......) and involves implementation of an arbitrary prescribed initial boundary layer (See [1]). A prescribed initial boundary layer profile is enforced through the computational domain using body forces to maintain a desired flow field. The body forces are then stored and applied on the domain through the simulation...... and the boundary layer shape will be modified due to the interaction of the turbine wakes and buoyancy contributions. The implemented method is capable of capturing the most important features of wakes of wind farms [1] while having the advantage of resolving the wall layer with a coarser grid than typically...

  16. Neutral Supersymmetric Higgs Boson Searches

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, Stephen Luke [Imperial College, London (United Kingdom)

    2008-07-01

    In some Supersymmetric extensions of the Standard Model, including the Minimal Supersymmetric Standard Model (MSSM), the coupling of Higgs bosons to b-quarks is enhanced. This enhancement makes the associated production of the Higgs with b-quarks an interesting search channel for the Higgs and Supersymmetry at D0. The identification of b-quarks, both online and offline, is essential to this search effort. This thesis describes the author's involvement in the development of both types of b-tagging and in the application of these techniques to the MSSM Higgs search. Work was carried out on the Level-3 trigger b-tagging algorithms. The impact parameter (IP) b-tagger was retuned and the effects of increased instantaneous luminosity on the tagger were studied. An extension of the IP-tagger to use the z-tracking information was developed. A new b-tagger using secondary vertices was developed and commissioned. A tool was developed to allow the use of large multi-run samples for trigger studies involving b-quarks. Offline, a neural network (NN) b-tagger was trained combining the existing offline lifetime based b-tagging tools. The efficiency and fake rate of the NN b-tagger were measured in data and MC. This b-tagger was internally reviewed and certified by the Collaboration and now provides the official b-tagging for all analyses using the Run IIa dataset at D0. A search was performed for neutral MSSM Higgs bosons decaying to a b{bar b} pair and produced in association with one or more b-quarks. Limits are set on the cross-section times the branching ratio for such a process. The limits were interpreted in various MSSM scenarios. This analysis uses the NN b-tagger and was the first to use this tool. The analysis also relies on triggers using the Level-3 IP b-tagging tool described previously. A likelihood discriminant was used to improve the analysis and a neural network was developed to cross-check this technique. The result of the analysis has been submitted to PRL

  17. Evaluation of smallpox vaccines using variola neutralization.

    Science.gov (United States)

    Damon, Inger K; Davidson, Whitni B; Hughes, Christine M; Olson, Victoria A; Smith, Scott K; Holman, Robert C; Frey, Sharon E; Newman, Frances; Belshe, Robert B; Yan, Lihan; Karem, Kevin

    2009-08-01

    The search for a 'third'-generation smallpox vaccine has resulted in the development and characterization of several vaccine candidates. A significant barrier to acceptance is the absence of challenge models showing induction of correlates of protective immunity against variola virus. In this light, virus neutralization provides one of few experimental methods to show specific 'in vitro' activity of vaccines against variola virus. Here, we provide characterization of the ability of a modified vaccinia virus Ankara vaccine to induce variola virus-neutralizing antibodies, and we provide comparison with the neutralization elicited by standard Dryvax vaccination.

  18. Neutral currents, supernovae neutrinos, and nucleosynthesis

    International Nuclear Information System (INIS)

    Haxton, W.C.

    1988-01-01

    The inelastic interactions of neutrinos during stellar collapse and neutron star cooling are discussed. The primary mechanism for dissipative neutrino reactions is nuclear excitation by neutral current scattering, a process not included in standard descriptions of supernovae. Charge-current and neutral current ''preheating'' of iron lying outside the shock front appears to be significant in the few milliseconds near shock breakout. This could help produce a more energetic shock. During the cooling phase, the neutral current interactions of muon and taon neutrinos appear to be responsible for some interesting nucleosynthesis. I discuss two examples the production of fluorine and neutrino-induced r-process nucleosynthesis. 26 refs., 1 fig., 3 tabs

  19. Rare decays of neutral π and eta

    International Nuclear Information System (INIS)

    Poutissou, J.M.

    1983-09-01

    The decays of the pseudoscalar neutral mesons π degree and eta degree have provided a test of fundamental principles. The main branch, π degree → 2γ, was investigated in the late 60's in the context of current algebra and the decay rate calculated from the singular triangle diagram is in excellent agreement with experiment. Rare leptonic decays of the neutral pseudoscalar mesons are of interest because of the information they reveal about neutral currents or other exotic interactions between leptons and quarks. The author discusses recent information on the π degree → e + e - decay

  20. Soviet exoatmospheric neutral particle beam research

    International Nuclear Information System (INIS)

    Leiss, J.E.; Abrams, R.H.; Ehlers, K.W.; Farrell, J.A.; Gillespie, G.H.; Jameson, R.A.; Keefe, D.; Parker, R.K.

    1988-02-01

    This technical assessment was performed by a panel of eight U.S. scientists and engineers who are familiar with Soviet research through their own research experience, their knowledge of the published scientific literature and conference proceedings, and personal contacts with Soviet scientists and other foreign colleagues. Most of the technical components of a neutral particle beam generating system including the ion source, the accelerator, the accelerator radio frequency power supply, the beam conditioning and aiming system, and the beam neutralizer system are addressed. It does not address a number of other areas important to an exoatmospheric neutral beam system

  1. Fast Neutral Pressure Measurements in NSTX

    International Nuclear Information System (INIS)

    R. Raman; H.W. Kugel; T. Provost; R. Gernhardt; T.R. Jarboe; M.G. Bell

    2002-01-01

    Several fast neutral pressure gauges have been installed on NSTX [National Spherical Torus Experiment] to measure the vessel and divertor pressure during inductive and coaxial helicity injected (CHI) plasma operations. Modified, PDX [Poloidal Divertor Experiment]-type Penning gauges have been installed on the upper and lower divertors. Neutral pressure measurements during plasma operations from these and from two shielded fast Micro ion gauges at different toroidal locations on the vessel mid-plane are described. A new unshielded ion gauge, referred to as the In-vessel Neutral Pressure (INP) gauge is under development

  2. Negative ion formation and neutralization processes, (2)

    International Nuclear Information System (INIS)

    Sugiura, Toshio

    1982-09-01

    This review is 2nd part of the report published at January 1982 (JAERI-M-9902). A compilation includes the survey of the data of the cross sections of H - and D - ion formations and the neutralization of these ions. This is also presented new information about the photosensitization by laser beam in dissociative-resonance electron capture of sulfur hexafluoride reported by Chen et al., for reference to enhancement of D - ions in discharge. For neutralization, the data of mutual neutralization and photodetachment are also presented. (author)

  3. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

    Directory of Open Access Journals (Sweden)

    Frank P Diekstra

    Full Text Available Amyotrophic lateral sclerosis (ALS is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls. These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls. Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51 withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible

  4. The influence of sporadic anovulation on hormone levels in ovulatory cycles

    Science.gov (United States)

    Hambridge, H.L.; Mumford, S.L.; Mattison, D.R.; Ye, A.; Pollack, A.Z.; Bloom, M.S.; Mendola, P.; Lynch, K.L.; Wactawski-Wende, J.; Schisterman, E.F.

    2013-01-01

    STUDY QUESTION Do ovulatory hormone profiles among healthy premenopausal women differ between women with and without sporadic anovulation? SUMMARY ANSWER Women with one anovulatory cycle tended to have lower estradiol, progesterone and LH peak levels during their ovulatory cycle. WHAT IS KNOWN ALREADY Anovulation occurs sporadically in healthy premenopausal women, but the influence of hormones in a preceding cycle and the impact on a subsequent cycle's hormone levels is unknown. STUDY DESIGN, SIZE, DURATION The BioCycle Study was a prospective cohort including 250 healthy regularly menstruating women, 18–44 years of age, from Western New York with no history of menstrual or ovulation disorders. The women were followed with up to eight study visits per cycle for two cycles, most of which were consecutive. PARTICIPANTS/MATERIALS, SETTING AND METHODS All study visits were timed to menstrual cycle phase using fertility monitors and located at the University at Buffalo women's health research center from 2005 to 2007. The main outcomes measured were estradiol, progesterone, LH and follicle-stimulating hormone levels in serum at up to 16 visits over two cycles. Anovulation was defined as peak serum progesterone concentrations ≤5 ng/ml and no serum LH peak detected during the mid- or late-luteal phase visit. MAIN RESULTS AND THE ROLE OF CHANCE Reproductive hormone concentrations were lower during anovulatory cycles, but significant reductions were also observed in estradiol (−25%, P = 0.003) and progesterone (−22%, P = 0.001) during the ovulatory cycles of women with one anovulatory cycle compared with women with two ovulatory cycles. LH peak concentrations were decreased in the ovulatory cycle of women with an anovulatory cycle (significant amplitude effect, P = 0.004; geometric mean levels 38% lower, P cycles, and no ultrasound assessment of ovulation was available. Data were missing for a total of 168 of a possible 4072 cycle visits (4.1%), though all women had

  5. Glycoform-Selective Prion Formation in Sporadic and Familial Forms of Prion Disease

    Science.gov (United States)

    Xiao, Xiangzhu; Yuan, Jue; Haïk, Stéphane; Cali, Ignazio; Zhan, Yian; Moudjou, Mohammed; Li, Baiya; Laplanche, Jean-Louis; Laude, Hubert; Langeveld, Jan; Gambetti, Pierluigi; Kitamoto, Tetsuyuki; Kong, Qingzhong; Brandel, Jean-Philippe; Cobb, Brian A.; Petersen, Robert B.; Zou, Wen-Quan

    2013-01-01

    The four glycoforms of the cellular prion protein (PrPC) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrPSc) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrPSc in the recently identified variably protease-sensitive prionopathy (VPSPr) is the absence of a diglycosylated form, also notable in familial Creutzfeldt-Jakob disease (fCJD), which is linked to mutations in PrP either from Val to Ile at residue 180 (fCJDV180I) or from Thr to Ala at residue 183 (fCJDT183A). Here we report that fCJDV180I, but not fCJDT183A, exhibits a proteinase K (PK)-resistant PrP (PrPres) that is markedly similar to that observed in VPSPr, which exhibits a five-step ladder-like electrophoretic profile, a molecular hallmark of VPSPr. Remarkably, the absence of the diglycosylated PrPres species in both fCJDV180I and VPSPr is likewise attributable to the absence of PrPres glycosylated at the first N-linked glycosylation site at residue 181, as in fCJDT183A. In contrast to fCJDT183A, both VPSPr and fCJDV180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181) PrP prior to PK-treatment. Furthermore, PrPV180I with a typical glycoform profile from cultured cells generates detectable PrPres that also contains the diglycosylated PrP in addition to mono- and unglycosylated forms upon PK-treatment. Taken together, our current in vivo and in vitro studies indicate that sporadic VPSPr and familial CJDV180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrPC to PrPSc is inhibited, probably by a dominant-negative effect, or by other co-factors. PMID:23527023

  6. Neutral Color Semitransparent Microstructured Perovskite Solar Cells

    KAUST Repository

    Eperon, Giles E.; Burlakov, Victor M.; Goriely, Alain; Snaith, Henry J.

    2014-01-01

    Neutral-colored semitransparent solar cells are commercially desired to integrate solar cells into the windows and cladding of buildings and automotive applications. Here, we report the use of morphological control of perovskite thin films to form

  7. Charge neutralization of small ion beam clumps

    Energy Technology Data Exchange (ETDEWEB)

    Welch, D R [Mission Research Corp., Albuquerque, NM (United States); Olson, C L; Hanson, D L [Sandia National Labs., Albuquerque, NM (United States)

    1997-12-31

    The mega-ampere currents associated with light ion fusion (LIF) require excellent charge neutralization to prevent divergence growth. As the size and space-charge potential of a beam clump or `beamlet` become small (submillimeter size and kilovolt potentials), the neutralization becomes increasingly difficult. Linear theory predicts that plasma electrons cannot neutralize potentials < {phi}{sub crit} = (1/2)m{sub e}v{sub i}{sup 2}/e, where m{sub e} is the electron mass and v{sub i} is the ion beam velocity. A non-uniform beam would, therefore, have regions with potentials sufficient to add divergence to beam clumps. The neutralization of small beamlets produced on the SABLE accelerator and in numerical simulation has supported the theory, showing a plateau in divergence growths as the potential in the beamlet exceeds {phi}{sub crit}. (author). 1 tab., 2 figs., 4 refs.

  8. UV Ionizer for Neutral Wind Mass Spectrometers

    Data.gov (United States)

    National Aeronautics and Space Administration — Current neutral particle instrumentation relies on hot cathode filaments or an electron gun for ionizing the target medium.  These ionization sources represent a...

  9. Kinetics of neutralization of Po-218

    International Nuclear Information System (INIS)

    Chu, K.D.

    1987-01-01

    In a well-defined experimental system the neutralization of polonium-218 ions was investigated as a function of the physical and chemical properties of the controlled composition atmosphere. The mobilities of Po + and PoO 2 + are determined by combining experimental results with a computer model of the system. Three neutralization mechanisms were individually studied. The small ion recombination rate has been found to be proportional to the square root of radon concentration. The electron scavenging mechanism is responsible for the neutralization of Po + in NO 2 or H 2 O in nitrogen. When PoO 2 + is formed, the electron transfer mechanism dominates the neutralization process. The electron is transferred to PoO 2 + from molecules with lower ionization potentials. The ionization potential of PoO 2 + is also determined to be 10.44 +/- 0.05 eV

  10. An experimenter's history of neutral currents

    International Nuclear Information System (INIS)

    Sciulli, F.

    1979-01-01

    The history of the experimental study of neutral currents, defined as the class of weak interactions engaged in by lepton pairs of net zero charge, is traced under the headings; historical motivations, experimental searches, first positive indications, neutral currents corroborated, neutrino experiments on neutral currents and some general experimental comments. It is concluded that the neutral current does exist and predicted on the basis of gauge theory ideas, and though to connect the weak and electromagnetic interactions, its very general experimental properties are quite consistent with those ideas. Among these are flavor conserving complicated isospin structure, complicated V, A structure and a structure which depends on the type (or quantum numbers) of the target. 50 references. (UK)

  11. An one-dimensional model simulating the energy distribution of neutrals going out of a tokamak plasma

    International Nuclear Information System (INIS)

    Barrado, J.M.; Blazquez, J.B.; Perez-Navarro, A.; Zurro, B.

    1977-01-01

    An one-dimensional model to analyze the neutral atoms penetration into a hot plasma has been introduced in order to get the ionic temperature from the energy distribution of the charge exchange neutrals, which is obtained following a Montecarlo procedure. The model enhances the influence of the non homogeneous charge-exchange and temperature profiles over the energy distribution. It also shows haw the inner neutrals are screened by the plasma external layers and the dependence of the effective temperature on the charge-exchange cross section. Results agree with experimental data and with obtained through some others more elaborated models. (author) [es

  12. ITER neutral beam system US conceptual design

    International Nuclear Information System (INIS)

    Purgalis, P.

    1990-09-01

    In this document we present the US conceptual design of a neutral beam system for International Thermonuclear Experimental Reactor (ITER). The design incorporates a barium surface conversion D - source feeding a linear array of accelerator channels. The system uses a dc accelerator with electrostatic quadrupoles for strong focusing. A high voltage power supply that is integrated with the accelerator is presented as an attractive option. A gas neutralizer is used and residual ions exiting the neutralizer are deflected to water-cooled dumps. Cryopanels are located at the accelerator exit to pump excess gas from the source and the neutralizer, and in the ion dump cavity to pump re-neutralized ions and neutralizer gas. All the above components are packaged in compact identical, independent modules which can be removed for remote maintenance. The neutral beam system delivers 75 MW of DO at 1.3 MeV, into three ports with a total of 9 modules arranged in stacks of three modules per port . To increase reliability each module is designed to deliver up to 10 MW; this allows eight modules operating at partial capacity to deliver the required power in the event one module is out of service, and provides 20% excess capacity to improve availability. Radiation protection is provided by shielding and by locating critical components in the source and accelerator 46.5 m from the torus centerline. Neutron shielding in the drift duct and neutralizer provides the added feature of limiting conductance and thus reducing gas flow to and from the torus

  13. Neutral-particle-beam production and injection

    International Nuclear Information System (INIS)

    Post, D.; Pyle, R.

    1982-07-01

    This paper is divided into two sections: the first is a discussion of the interactions of neutral beams with confined plasmas, the second is concerned with the production and diagnosis of the neutral beams. In general we are dealing with atoms, molecules, and ions of the isotopes of hydrogen, but some heavier elements (for example, oxygen) will be mentioned. The emphasis will be on single-particle collisions; selected atomic processes on surfaces will be included

  14. Neutral signature Walker-VSI metrics

    International Nuclear Information System (INIS)

    Coley, A; McNutt, D; Musoke, N; Brooks, D; Hervik, S

    2014-01-01

    We will construct explicit examples of four-dimensional neutral signature Walker (but not necessarily degenerate Kundt) spaces for which all of the polynomial scalar curvature invariants vanish. We then investigate the properties of some particular subclasses of Ricci flat spaces. We also briefly describe some four-dimensional neutral signature Einstein spaces for which all of the polynomial scalar curvature invariants are constant. (paper)

  15. Nitrogen-neutrality: a step towards sustainability

    Science.gov (United States)

    Leip, Adrian; Leach, Allison; Musinguzi, Patrick; Tumwesigye, Trust; Olupot, Giregon; Tenywa, John Stephen; Mudiope, Joseph; Hutton, Olivia; Cordovil, Claudia M. d. S.; Bekunda, Mateete; Galloway, James

    2014-11-01

    We propose a novel indicator measuring one dimension of the sustainability of an entity in modern societies: Nitrogen-neutrality. N-neutrality strives to offset Nr releases an entity exerts on the environment from the release of reactive nitrogen (Nr) to the environment by reducing it and by offsetting the Nr releases elsewhere. N-neutrality also aims to increase awareness about the consequences of unintentional releases of nitrogen to the environment. N-neutrality is composed of two quantified elements: Nr released by an entity (e.g. on the basis of the N footprint) and Nr reduction from management and offset projects (N offset). It includes management strategies to reduce nitrogen losses before they occur (e.g., through energy conservation). Each of those elements faces specific challenges with regard to data availability and conceptual development. Impacts of Nr releases to the environment are manifold, and the impact profile of one unit of Nr release depends strongly on the compound released and the local susceptibility to Nr. As such, N-neutrality is more difficult to conceptualize and calculate than C-neutrality. We developed a workable conceptual framework for N-neutrality which was adapted for the 6th International Nitrogen Conference (N2013, Kampala, November 2013). Total N footprint of the surveyed meals at N2013 was 66 kg N. A total of US 3050 was collected from the participants and used to offset the conference’s N footprint by supporting the UN Millennium Village cluster Ruhiira in South-Western Uganda. The concept needs further development in particular to better incorporate the spatio-temporal variability of impacts and to standardize the methods to quantify the required N offset to neutralize the Nr releases impact. Criteria for compensation projects need to be sharply defined to allow the development of a market for N offset certificates.

  16. Γ-source Neutral Point Clamped Inverter

    DEFF Research Database (Denmark)

    Mo, Wei; Loh, Poh Chiang; Blaabjerg, Frede

    Transformer based Z-source inverters are recently proposed to achieve promising buck-boost capability. They have improved higher buck-boost capability, smaller size and less components count over Z-source inverters. On the other hand, neutral point clamped inverters have less switching stress...... and better output performance comparing with traditional two-level inverters. Integrating these two types of configurations can help neutral point inverters achieve enhanced votlage buck-boost capability....

  17. TFTR neutral beam injection system conceptual design

    International Nuclear Information System (INIS)

    1975-01-01

    Three subsystems are described in the following chapters: (1) Neutral Beam Injection Line; (2) Power Supplies; and (3) Controls. Each chapter contains two sections: (1) Functions and Design Requirements; this is a brief listing of the requirements of components of the subsystem. (2) Design Description; this section describes the design and cost estimates. The overall performance requirements of the neutral beam injection system are summarized. (MOW)

  18. Neutral currents without gauge theory prejudices

    International Nuclear Information System (INIS)

    Sakurai, J.J.

    1976-01-01

    The measurement of weak neutral current processes allows a determination of the space-time structure and the isospin structure of these currents. The inclusive production data and the elastic neutrino electron scattering rules out a pure V or A structure of the current. A pure isoscalar current is in disagreement with the experimental data for the one pion production off neutrinos. Further aspects of the neutral current can be determined in neutrino-nucleus-scattering experiments. (BJ) [de

  19. Negative ion formation and neutralization processes, (1)

    International Nuclear Information System (INIS)

    Sugiura, Toshio

    1982-01-01

    This review has been made preliminary for the purpose of contribute to the plasma heating by ''negative ion based neutral beam injection'' in the magnetic confinement fusion reactor. A compilation includes the survey of the general processes of negative ion formation, the data of the cross section of H - ion formation and the neutralization of H - ion, and some of new processes of H - ion formation. The data of cross section are mainly experimental, but partly include the results of theoretical calculation. (author)

  20. Nitrogen-neutrality: a step towards sustainability

    International Nuclear Information System (INIS)

    Leip, Adrian; Leach, Allison; Hutton, Olivia; Galloway, James; Musinguzi, Patrick; Tumwesigye, Trust; Olupot, Giregon; Stephen Tenywa, John; Mudiope, Joseph; Cordovil, Claudia M d S; Bekunda, Mateete

    2014-01-01

    We propose a novel indicator measuring one dimension of the sustainability of an entity in modern societies: Nitrogen-neutrality. N-neutrality strives to offset Nr releases an entity exerts on the environment from the release of reactive nitrogen (Nr) to the environment by reducing it and by offsetting the Nr releases elsewhere. N-neutrality also aims to increase awareness about the consequences of unintentional releases of nitrogen to the environment. N-neutrality is composed of two quantified elements: Nr released by an entity (e.g. on the basis of the N footprint) and Nr reduction from management and offset projects (N offset). It includes management strategies to reduce nitrogen losses before they occur (e.g., through energy conservation). Each of those elements faces specific challenges with regard to data availability and conceptual development. Impacts of Nr releases to the environment are manifold, and the impact profile of one unit of Nr release depends strongly on the compound released and the local susceptibility to Nr. As such, N-neutrality is more difficult to conceptualize and calculate than C-neutrality. We developed a workable conceptual framework for N-neutrality which was adapted for the 6th International Nitrogen Conference (N2013, Kampala, November 2013). Total N footprint of the surveyed meals at N2013 was 66 kg N. A total of US$ 3050 was collected from the participants and used to offset the conference’s N footprint by supporting the UN Millennium Village cluster Ruhiira in South-Western Uganda. The concept needs further development in particular to better incorporate the spatio-temporal variability of impacts and to standardize the methods to quantify the required N offset to neutralize the Nr releases impact. Criteria for compensation projects need to be sharply defined to allow the development of a market for N offset certificates. (paper)

  1. Applications of neutral beam and rf technologies

    International Nuclear Information System (INIS)

    Haselton, H.H.

    1987-04-01

    This presentation provides an update on the applications of neutral beams and radiofrequency (rf) power in the fusion program; highlights of the ion cyclotron heating (ICH) experiments now in progress, as well as the neutral beam experiments; and heating requirements of future devices and some of the available options. Some remarks on current drive are presented because this area of technology is one that is being considered for future devices

  2. Apparatus for neutralization of accelerated ions

    International Nuclear Information System (INIS)

    Fink, J.H.; Frank, A.M.

    1979-01-01

    Apparatus is described for neutralization of a beam of accelerated ions, such as hydrogen negative ions (H - ), using relatively efficient strip diode lasers which emit monochromatically at an appropriate wavelength (lambda = 8000 A for H - ions) to strip the excess electrons by photodetachment. A cavity, formed by two or more reflectors spaced apart, causes the laser beams to undergo multiple reflections within the cavity, thus increasing the efficiency and reducing the illumination required to obtain an acceptable percentage (approx. 85%) of neutralization

  3. Negative ion based neutral beams for plasma heating

    International Nuclear Information System (INIS)

    Prelec, K.

    1978-01-01

    Neutral beam systems based on negative ions have been considered because of a high expected power efficiency. Methods for the production, acceleration and neutralization of negative ions will be reviewed and possibilities for an application in neutral beam lines explored

  4. Design of the ITER Neutral Beam injectors

    International Nuclear Information System (INIS)

    Hemsworth, R.S.; Feist, J.; Hanada, M.; Heinemann, B.; Inoue, T.; Kuessel, E.; Kulygin, V.; Krylov, A.; Lotte, P.; Miyamoto, K.; Miyamoto, N.; Murdoch, D.; Nagase, A.; Ohara, Y.; Okumura, Y.; Pamela, J.; Panasenkov, A.; Shibata, K.; Tanii, M.

    1996-01-01

    This paper describes the Neutral Beam Injection system which is presently being designed in Europe, Japan and Russia, with co-ordination by the Joint Central Team of ITER at Naka, Japan. The proposed system consists of three negative ion based neutral injectors, delivering a total of 50 MW of 1 MeV D 0 to the ITER plasma for pulse length of ≥1000 s. The injectors each use a single caesiated volume arc discharge negative ion source, and a multi-grid, multi-aperture accelerator, to produce about 40 A of 1 MeV D - . This will be neutralized in a sub-divided gas neutralizer, which has a conversion efficiency of about 60%. The charged fraction of the beam emerging from the neutralizer is dumped in an electrostatic residual ion dump. A water cooled calorimeter can be moved into the beam path to intercept the neutral beam, allowing commissioning of the injector independent of ITER. copyright 1996 American Institute of Physics

  5. Neutral particle kinetics in fusion devices

    International Nuclear Information System (INIS)

    Tendler, M.; Heifetz, D.

    1986-05-01

    The theory of neutral particle kinetics treats the transport of mass, momentum, and energy in a plasma due to neutral particles which themselves are unaffected by magnetic fields. This transport affects the global power and particle balances in fusion devices, as well as profile control and plasma confinement quality, particle and energy fluxes onto device components, performance of pumping systems, and the design of diagnostics and the interpretation of their measurements. This paper reviews the development of analytic, numerical, and Monte Carlo methods of solving the time-independent Boltzmann equation describing neutral kinetics. These models for neutral particle behavior typically use adaptations of techniques developed originally for computing neutron transport, due to the analogy between the two phenomena, where charge-exchange corresponds to scattering and ionization to absorption. Progress in the field depends on developing multidimensional analytic methods, and obtaining experimental data for the physical processes of wall reflection, the neutral/plasma interaction, and for processes in fusion devices which are directly related to neutral transport, such as H/sub α/ emission rates, plenum pressures, and charge-exchange emission spectra

  6. Neutral particle kinetics in fusion devices

    Energy Technology Data Exchange (ETDEWEB)

    Tendler, M.; Heifetz, D.

    1986-05-01

    The theory of neutral particle kinetics treats the transport of mass, momentum, and energy in a plasma due to neutral particles which themselves are unaffected by magnetic fields. This transport affects the global power and particle balances in fusion devices, as well as profile control and plasma confinement quality, particle and energy fluxes onto device components, performance of pumping systems, and the design of diagnostics and the interpretation of their measurements. This paper reviews the development of analytic, numerical, and Monte Carlo methods of solving the time-independent Boltzmann equation describing neutral kinetics. These models for neutral particle behavior typically use adaptations of techniques developed originally for computing neutron transport, due to the analogy between the two phenomena, where charge-exchange corresponds to scattering and ionization to absorption. Progress in the field depends on developing multidimensional analytic methods, and obtaining experimental data for the physical processes of wall reflection, the neutral/plasma interaction, and for processes in fusion devices which are directly related to neutral transport, such as H/sub ..cap alpha../ emission rates, plenum pressures, and charge-exchange emission spectra.

  7. Insulin-Resistant Brain State: the culprit in sporadic Alzheimer’s Disease?

    Science.gov (United States)

    Correia, Sónia C.; Santos, Renato X.; Perry, George; Zhu, Xiongwei; Moreira, Paula I.; Smith, Mark A.

    2011-01-01

    Severe abnormalities in brain glucose/energy metabolism and insulin signaling have been documented to take a pivotal role in early sporadic Alzheimer’s disease (sAD) pathology. Indeed, the “insulin-resistant brain state” has been hypothesized to form the core of the neurodegenerative events that occur in sAD. In this vein, intracerebroventricular administration of subdiabetogenic doses of streptozotocin (STZ) in rats can induce an insulin-resistant brain state, which is proposed as a suitable experimental model of sAD. This review highlights the involvement of disturbed brain insulin metabolism in sAD etiopathogenesis. Furthermore, current knowledge demonstrates that central STZ administration produces brain pathology and behavioral changes that resemble changes found in sAD patients. The STZ-intracerebroventricularly treated rat represents a promising experimental tool in this field by providing new insights concerning early brain alterations in sAD, which can be translated in novel etiopathogenic and therapeutic approaches in this disease. PMID:21262392

  8. Molecular analysis of MLH1 variants in Chinese sporadic colorectal cancer patients.

    Science.gov (United States)

    Peng, H X; Xu, X; Yang, R; Chu, Y M; Yang, D M; Xu, Y; Zhou, F L; Ma, W Z; Zhang, X J; Guan, M; Yang, Z H; Jin, Z D

    2016-04-26

    Single nucleotide polymorphisms (SNPs) in mismatch repair genes, especially in the MLH1 gene, are closely associated with susceptibility to hereditary nonpolyposis colorectal cancer. However, few relevant findings are available regarding the association between sporadic colorectal cancer (SCRC) and SNPs of MLH1 in Chinese patients. Therefore, the present study aimed to describe the pathogenic association between three important MLH1 polymorphisms and SCRC in the Chinese population. Peripheral blood samples from 156 SCRC patients and 311 healthy controls were collected. DNA was purified from peripheral blood, and the V384D, R217C, and I219V polymorphisms were evaluated using high-resolution melting analysis and direct sequencing. The association between the three important MLH1 polymorphisms and clinical pathological features of the SCRC patients was analyzed. In addition, PMS2-MLH1 protein interactions were determined by co-immunoprecipitation (Co-IP) to determine the protein functional alteration induced by these SNPs. Among the three polymorphisms, V384D was significantly associated with the risk of SCRC (OR = 31.36, P MLH1 R217C, V384D, and I219V variants had relative binding abilities with PMS2 of 0.59, 0.70, and 0.80, respectively, compared with the wild-type. These findings suggest that MLH1 V384D could be a promising genetic marker for susceptibility to SCRC.

  9. Modeling Late-Onset Sporadic Alzheimer’s Disease through BMI1 Deficiency

    Directory of Open Access Journals (Sweden)

    Anthony Flamier

    2018-05-01

    Full Text Available Late-onset sporadic Alzheimer’s disease (AD is the most prevalent form of dementia, but its origin remains poorly understood. The Bmi1/Ring1 protein complex maintains transcriptional repression of developmental genes through histone H2A mono-ubiquitination, and Bmi1 deficiency in mice results in growth retardation, progeria, and neurodegeneration. Here, we demonstrate that BMI1 is silenced in AD brains, but not in those with early-onset familial AD, frontotemporal dementia, or Lewy body dementia. BMI1 expression was also reduced in cortical neurons from AD patient-derived induced pluripotent stem cells but not in neurons overexpressing mutant APP and PSEN1. BMI1 knockout in human post-mitotic neurons resulted in amyloid beta peptide secretion and deposition, p-Tau accumulation, and neurodegeneration. Mechanistically, BMI1 was required to repress microtubule associated protein tau (MAPT transcription and prevent GSK3beta and p53 stabilization, which otherwise resulted in neurodegeneration. Restoration of BMI1 activity through genetic or pharmaceutical approaches could represent a therapeutic strategy against AD.

  10. Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.

    Science.gov (United States)

    Chadi, Gerson; Maximino, Jessica Ruivo; Jorge, Frederico Mennucci de Haidar; Borba, Fabrício Castro de; Gilio, Joyce Meire; Callegaro, Dagoberto; Lopes, Camila Galvão; Santos, Samantha Nakamura Dos; Rebelo, Gabriela Natania Sales

    2017-05-01

    To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n = 39) and SALS (n = 189) subjects from the Research Centre of the University of São Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses. SOD1, FUS and VAPB were also evaluated in FALS subjects. Mutations were identified in FALS (61.3%) and SALS (5.3%) patients. Mutations in C9orf72 (12.8%, >45 GGGGCC hexanucleotide repeats), VAPB (43.6%, P56S) and SOD1 (7.7%, L145S) were identified in FALS subjects. Pathogenic C9orf72 expansions (2.64%) were identified in some SALS patients. Similar changes of TARDBP were found in SALS (2.64%) but not in FALS subjects. No FUS mutations were seen in any FALS subjects. TARDBP and C9orf72 mutations in this cohort were similar to those found in other centres worldwide. VAPB mutation (P56S) was highly prevalent in Brazilian FALS patients.

  11. Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

    International Nuclear Information System (INIS)

    Yu Hui; Higa, Futoshi; Hibiya, Kenji; Furugen, Makoto; Sato, Yoko; Shinzato, Takashi; Haranaga, Shusaku; Yara, Satomi; Tateyama, Masao; Fujita, Jiro; Li, Huiping

    2010-01-01

    Objective: To describe the chest computed tomographic (CT) findings of Legionella pneumophila pneumonia. Methods: CT scans obtained from 23 sporadic cases of L. pneumophila pneumonia were retrospectively reviewed. Chest CT findings were analyzed with regard to the patterns and distributions of pulmonary abnormalities. We also analyzed the histopathology of lungs from guinea pigs with experimentally induced L. pneumophila pneumonia. Results: Consolidation and ground-glass opacity (GGO) were the main findings of CT scans in L. pneumophila pneumonia. The distribution of opacities was categorized as non-segmental (n = 20) and segmental (n = 4). Non-segmental distribution may follow an onset of segmental distribution. Pleural effusion was observed in 14 (58.3%) patients, of which 13 were accompanied with non-segmental distribution. Abscess formation was observed in only one immunocompromised patient. In the animal pneumonia model, the lesions comprised of terminal bronchioles, alveolar spaces, and interstitia. Small bacilli were observed to be contained by many macrophages within the alveoli. Conclusion: Non-segmental distribution was significantly more frequent than segmental distribution in L. pneumophila pneumonia. It is possible that L. pneumophila infection initially results in segmental pneumonia, which progresses to typical non-segmental distribution.

  12. Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

    Energy Technology Data Exchange (ETDEWEB)

    Yu Hui [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China); Higa, Futoshi; Hibiya, Kenji; Furugen, Makoto [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Sato, Yoko [Tomishiro Chuo Hospital, Okinawa (Japan); Shinzato, Takashi [Nakagami General Hospital, Okinawa (Japan); Haranaga, Shusaku; Yara, Satomi; Tateyama, Masao [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Fujita, Jiro, E-mail: fujita@med.u-ryukyu.ac.j [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Li, Huiping [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China)

    2010-06-15

    Objective: To describe the chest computed tomographic (CT) findings of Legionella pneumophila pneumonia. Methods: CT scans obtained from 23 sporadic cases of L. pneumophila pneumonia were retrospectively reviewed. Chest CT findings were analyzed with regard to the patterns and distributions of pulmonary abnormalities. We also analyzed the histopathology of lungs from guinea pigs with experimentally induced L. pneumophila pneumonia. Results: Consolidation and ground-glass opacity (GGO) were the main findings of CT scans in L. pneumophila pneumonia. The distribution of opacities was categorized as non-segmental (n = 20) and segmental (n = 4). Non-segmental distribution may follow an onset of segmental distribution. Pleural effusion was observed in 14 (58.3%) patients, of which 13 were accompanied with non-segmental distribution. Abscess formation was observed in only one immunocompromised patient. In the animal pneumonia model, the lesions comprised of terminal bronchioles, alveolar spaces, and interstitia. Small bacilli were observed to be contained by many macrophages within the alveoli. Conclusion: Non-segmental distribution was significantly more frequent than segmental distribution in L. pneumophila pneumonia. It is possible that L. pneumophila infection initially results in segmental pneumonia, which progresses to typical non-segmental distribution.

  13. Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanoma.

    Science.gov (United States)

    Simpson, R Mark; Bastian, Boris C; Michael, Helen T; Webster, Joshua D; Prasad, Manju L; Conway, Catherine M; Prieto, Victor M; Gary, Joy M; Goldschmidt, Michael H; Esplin, D Glen; Smedley, Rebecca C; Piris, Adriano; Meuten, Donald J; Kiupel, Matti; Lee, Chyi-Chia R; Ward, Jerrold M; Dwyer, Jennifer E; Davis, Barbara J; Anver, Miriam R; Molinolo, Alfredo A; Hoover, Shelley B; Rodriguez-Canales, Jaime; Hewitt, Stephen M

    2014-01-01

    Melanoma represents a significant malignancy in humans and dogs. Different from genetically engineered models, sporadic canine melanocytic neoplasms share several characteristics with human disease that could make dogs a more relevant preclinical model. Canine melanomas rarely arise in sun-exposed sites. Most occur in the oral cavity, with a subset having intra-epithelial malignant melanocytes mimicking the in situ component of human mucosal melanoma. The spectrum of canine melanocytic neoplasia includes benign lesions with some analogy to nevi, as well as invasive primary melanoma, and widespread metastasis. Growing evidence of distinct subtypes in humans, differing in somatic and predisposing germ-line genetic alterations, cell of origin, epidemiology, relationship to ultraviolet radiation and progression from benign to malignant tumors, may also exist in dogs. Canine and human mucosal melanomas appear to harbor BRAF, NRAS, and c-kit mutations uncommonly, compared with human cutaneous melanomas, although both species share AKT and MAPK signaling activation. We conclude that there is significant overlap in the clinical and histopathological features of canine and human mucosal melanomas. This represents opportunity to explore canine oral cavity melanoma as a preclinical model. © 2013 The Authors. Pigment Cell & Melanoma Research published by John Wiley & Sons Ltd.

  14. Clinical and Genetic Aspects of Sporadic Non-Medullar Thyroid Cancer

    Directory of Open Access Journals (Sweden)

    U Rumjanzeva

    2006-03-01

    Full Text Available The role of somatic mutations in sporadic thyroid cancer is unclear today. Probably they coming out as aetiological factors in carcinogenesis as well as, respectfully to many authors, can to participate in TC pathogenesis and to determine the clinical course and prognosis of the disease. For today as main oncogenes taking part in initiation of thyroid malignant tumors are considered: RET/PTC, TRK, PTEN, P53, RAS, MET, PPARγ. By means of genetic investigations scientists are trying to solve problems with thyroid cancer differentiated diagnostics (cytokeratin-19, cytokeratin-20, mesothelial cells antigen (Hector Battifora MEsotelial (cell or HBME-1, loss of heterozigitoty (LOH in short arm of 3 chromosome (gene VHL -von Hippel Lindau, 3р26. Recently in foreign literature appeared reports of activated mutations in gene BRAF which most frequently are occurred in melanoma and papillary TC. Prognosis of thyroid cancer may reflected by the LOH as a biological breakage as well as changes of tumor suppressive gene P53 which fraught with decrease of disease prognosis. Thus, both researchers and clinicians have many questions concerning the role of genome, particularly in order to precise of genetic abnormality influence on tumor growth and therefore for assessment of clinical prognosis and with aim to chose adequate treatment tactic in each case.

  15. Evidence for presumable feline origin of sporadic G6P[9] rotaviruses in humans.

    Science.gov (United States)

    Pietsch, Corinna; Liebert, Uwe G

    2018-05-31

    Species A rotaviruses are highly diverse and impose a substantial burden to human and animal health. Interspecies transmission between livestock, domestic animals and humans is commonly observed, but spread of animal-like rotaviruses within the human population is limited. During the continued monitoring of rotavirus strains in Germany, an unusual G6P[9] rotavirus strain was detected in feces of a child. The complete rotavirus coding sequences revealed a unique G6-P[9]-I2-R2-C2-M2-A3-N2-T3-E2-H3 genotype constellation. The virus was phylogenetically related to feline G3P[9] strains and other human G6P[9] rotaviruses of presumable zoonotic origin. Analysis of primer binding sites of G6 specific genotyping revealed further evidence of a G6P[9] feline reservoir. Moreover, substantial deficits of conventional semi-nested PCR genotyping approaches in detecting contemporary G6P[9] were revealed. Rotavirus strain GER29-14 most likely resulted from a direct or recent interspecies transmission from a cat to human. Further studies could assess nucleic acid sequences and genotype constellations of feline rotavirus to confirm the likely feline origin of sporadic human G6P[9] strains. Copyright © 2018 Elsevier B.V. All rights reserved.

  16. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls

    International Nuclear Information System (INIS)

    Voss, Marise R Heerma van; Groep, Petra van der; Bart, Jos; Wall, Elsken van der; Diest, Paul J van

    2010-01-01

    Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways. Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like) type that is known to have a low rate of lympho-vascular invasion (LVI), we hypothesized that absence of LVI could characterize BRCA1 related breast cancer. A population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type. LVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78). LVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation

  17. C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    He, Ji; Tang, Lu; Benyamin, Beben; Shah, Sonia; Hemani, Gib; Liu, Rong; Ye, Shan; Liu, Xiaolu; Ma, Yan; Zhang, Huagang; Cremin, Katie; Leo, Paul; Wray, Naomi R; Visscher, Peter M; Xu, Huji; Brown, Matthew A; Bartlett, Perry F; Mangelsdorf, Marie; Fan, Dongsheng

    2015-09-01

    A hexanucleotide repeat expansion (HRE) in the C9orf72 gene has been identified as the most common mutation in amyotrophic lateral sclerosis (ALS) among Caucasian populations. We sought to comprehensively evaluate genetic and epigenetic variants of C9orf72 and the contribution of the HRE in Chinese ALS cases. We performed fragment-length and repeat-primed polymerase chain reaction to determine GGGGCC copy number and expansion within the C9orf72 gene in 1092 sporadic ALS (sALS) and 1062 controls from China. We performed haplotype analysis of 23 single-nucleotide polymorphisms within and surrounding C9orf72. The C9orf72 HRE was found in 3 sALS patients (0.3%) but not in control subjects (p = 0.25). For 2 of the cases with the HRE, genotypes of 8 single-nucleotide polymorphisms flanking the HRE were inconsistent with the haplotype reported to be strongly associated with ALS in Caucasian populations. For these 2 individuals, we found hypermethylation of the CpG island upstream of the repeat, an observation not detected in other sALS patients (p HRE were highly associated with repeat lengths >8 repeats implying that both haplotypes may confer instability of repeat length. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Coppedè, Fabio; Lo Gerfo, Annalisa; Carlesi, Cecilia; Piazza, Selina; Mancuso, Michelangelo; Pasquali, Livia; Murri, Luigi; Migliore, Lucia; Siciliano, Gabriele

    2010-02-01

    Impairments in DNA repair enzymes have been observed in amyotrophic lateral sclerosis (ALS) tissues, particularly in the activity of the apurinic/apyrimidinic endonuclease 1 (APEX1). Moreover, it was suggested that the common APEX1 Asp148Glu polymorphism might be associated with ALS risk. To further address this question we performed the present study aimed at evaluating the contribution of the APEX1 Asp148Glu polymorphism in sporadic ALS (sALS) risk and clinical presentation, including age and site of onset and disease progression. We screened 134 sALS Italian patients and 129 matched controls for the presence of the APEX1 Asp148Glu polymorphism. No difference in APEX1 Asp148Glu allele and genotype frequencies was found between the groups, nor was the polymorphism associated with age and site of onset or disease progression. Present results do not support a role for the APEX1 Asp148Glu polymorphism in sALS pathogenesis in the Italian population.

  19. Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Praline, Julien; Blasco, Hélène; Vourc'h, Patrick; Rat, Valérian; Gendrot, Chantal; Camu, William; Andres, Christian R

    2012-06-15

    Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties

    Science.gov (United States)

    Bishop, Matthew T.; Will, Robert G.; Manson, Jean C.

    2010-01-01

    The biological determinants of the phenotypic variation in sporadic Creutzfeldt-Jakob disease (sCJD) are unknown. To categorize sCJD cases, the prion protein (PrP) codon 129 genotype and the biochemical characteristics of the disease-associated form of PrP (PrPSc) can be combined to form six subgroups (MM1, MM2, MV1, MV2, VV1, and VV2). This classification largely correlates with the known variation in the clinical and pathological features of sCJD, with the MM1 and MV1 cases representing the “classic” phenotype of sCJD. To address how this classification relates to different strains of sCJD we have inoculated each subgroup of sCJD to a panel of mice expressing different forms of the human PRNP gene (129MM, 129VV, and 129MV). We have established that all subtypes are transmissible to at least one genotype of mouse, and both agent and host factors determine transmission efficiency and the form of PrPSc deposited in the brain. Moreover, we have identified four distinct strains of sCJD using our in vivo strain typing panel. PMID:20547859

  1. Regulation of human cerebrospinal fluid malate dehydrogenase 1 in sporadic Creutzfeldt-Jakob disease patients.

    Science.gov (United States)

    Schmitz, Matthias; Llorens, Franc; Pracht, Alexander; Thom, Tobias; Correia, Ângela; Zafar, Saima; Ferrer, Isidre; Zerr, Inga

    2016-11-14

    The identification of reliable diagnostic biomarkers in differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous two-dimensional proteomic study on cerebrospinal fluid (CSF) revealed an elevated level of an enzyme, mitochondrial malate dehydrogenase 1 (MDH1), in sporadic Creutzfeldt-Jakob disease (sCJD) patients. Here, we could demonstrate the expression of MDH1 in neurons as well as in the neuropil. Its levels are lower in sCJD brains than in control brains. An examination of CSF-MDH1 in sCJD patients by ELISA revealed a significant elevation of CSF-MDH1 levels in sCJD patients (independently from the PRNP codon 129 MV genotype or the prion protein scrapie (PrP Sc ) type) in comparison to controls. In combination with total tau (tau), CSF-MDH1 detection exhibited a high diagnostic accuracy for sCJD diagnosis with a sensitivity of 97.5% and a specificity of 95.6%. A correlation study of MDH1 level in CSF with other neurodegenerative marker proteins revealed a significant positive correlation between MDH1 concentration with tau, 14-3-3 and neuron specific enolase level. In conclusion, our study indicated the potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly.

  2. Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob disease in Germany.

    Science.gov (United States)

    Krasnianski, Anna; Bohling, Geeske T; Harden, Markus; Zerr, Inga

    2015-09-01

    Psychiatric symptoms in sporadic Creutzfeldt-Jakob disease (sCJD) are still not sufficiently evaluated. To describe psychiatric symptoms in sCJD with respect to molecular subtype. Patients in this retrospective study were classified according to established diagnostic criteria. 248 sCJD patients with known molecular subtype were recruited from January 1993 to December 2004 and investigated. Psychiatric symptoms were defined according to Möller and colleagues and the AMDP system (Study Group for Methods and Documentation in Psychiatry) and were collected by direct examination by study physicians or extracted from medical documentation. Our data were compared with published data on variant CJD (vCJD). Psychiatric symptoms were common in sCJD patients (90%) and mostly found already at the disease onset (agitation in 64% of the patients, hallucinations in 45%, anxiety in 50%, depression in 37%). All psychiatric symptoms but illusions were found early in the disease course. Psychiatric symptoms in sCJD were less frequent than in vCJD. We provide the first detailed analysis of psychiatric symptoms in a large group of patients with sCJD with respect to differences concerning frequency and time point of occurrence of psychiatric symptoms between molecular subtypes. These data suggest that psychiatric symptoms occurring early in the disease course are common not only in vCJD but also in other CJD types. © Copyright 2015 Physicians Postgraduate Press, Inc.

  3. Sporadic Creutzfeldt–Jakob disease with cerebellar ataxia at onset in the UK

    Science.gov (United States)

    Cooper, S A; Murray, K L; Heath, C A; Will, R G; Knight, R S G

    2006-01-01

    Objective To determine the frequency, in the UK, of sporadic Creutzfeldt–Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. Methods A retrospective review of autopsy‐proved cases of sCJD cases in the UK, 1990–2005, identifying those presenting with cerebellar features without early cognitive decline. Results 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)‐129. Only 8 (28%) cases were referred to the surveillance unit after death. Conclusion A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause. PMID:16835290

  4. Towards an age-dependent transmission model of acquired and sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    de Pedro-Cuesta, Jesús; Mahillo-Fernandez, Ignacio; Calero, Miguel; Rábano, Alberto; Cruz, Mabel; Siden, Åke; Martínez-Martín, Pablo; Laursen, Henning; Ruiz-Tovar, María; Mølbak, Kåre

    2014-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) might be transmitted by surgery. The purpose of this study was to investigate potential susceptibility to sCJD from surgery at juvenile age and in early adulthood. From Danish and Swedish national registries we identified 167 definite and probable sCJD cases with onset from 1987 through 2003, and 835 age-, sex- and residence-matched controls along with their surgical histories. Main, anatomically or etiologically classified surgical procedures followed by a ≥20-year lag were analyzed using logistic regression, and stratified by age at first-registered surgical discharge. The risk of having a diagnosis of CJD depended strongly on age at first surgery with odds ratio (OR) of 12.80 (95% CI 2.56-64.0) in patients <30 years, 3.04 (95% 1.26-7.33) in 30-39 years, and 1.75 (95% CI 0.89-3.45) in ≥40 years, for anatomically classified surgical procedures. Similar figures were obtained for etiologically classified surgical procedures. Risk of surgical-acquired sCJD depends on age at exposure; this pattern is similar to age-specific profiles reported for CJD accidentally transmitted by human pituitary-derived growth hormone and susceptibility curves for variant CJD estimated after adjustment for dietary exposure to bovine spongiform encephalopathy. There might be an age-at-exposure-related susceptibility to acquire all CJD forms, including sCJD from routine surgery.

  5. Subtype and regional regulation of prion biomarkers in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Llorens, Franc; Zafar, Saima; Ansoleaga, Belén; Shafiq, Mohsin; Blanco, Rosi; Carmona, Marga; Grau-Rivera, Oriol; Nos, Carlos; Gelpí, Ellen; Del Río, José Antonio; Zerr, Inga; Ferrer, Isidre

    2015-08-01

    Creutzfeldt-Jakob disease (CJD) is a rapid progressive neurological disease leading to dementia and death. Prion biomarkers are altered in the cerebrospinal fluid (CSF) of CJD patients, but the pathogenic mechanisms underlying these alterations are still unknown. The present study examined prion biomarker levels in the brain and CSF of sporadic CJD (sCJD) cases and their correlation with neuropathological lesion profiles. The expression levels of 14-3-3, Tau, phospho-Tau and α-synuclein were measured in the CSF and brain of sCJD cases in a subtype- and region-specific manner. In addition, the activity of prion biomarker kinases, the expression levels of CJD hallmarks and the most frequent neuropathological sCJD findings were analysed. Prion biomarkers levels were increased in the CSF of sCJD patients; however, correlations between mRNA, total protein and their phosphorylated forms in brain were different. The observed downregulation of the main Tau kinase, GSK3, in sCJD brain samples may help to explain the differential phospho-Tau/Tau ratios between sCJD and other dementias in the CSF. Importantly, CSF biomarkers levels do not necessarily correlate with sCJD neuropathological findings. Present findings indicate that prion biomarkers levels in sCJD tissues and their release into the CSF are differentially regulated following specific modulated responses, and suggest a functional role for these proteins in sCJD pathogenesis. © 2014 British Neuropathological Society.

  6. Sporadic Creutzfeldt-Jakob disease in a native Puerto Rican patient.

    Science.gov (United States)

    Del Pilar-Morales, Esteban A; Cali, Ignazio; Chapas, Javier; Bertrán-Pasarell, Jorge; Puoti, Gianfranco; Gambetti, Pierluigi; Nobo, Ulises

    2015-03-01

    The diagnosis of Creutzfeldt-Jakob disease (CJD) is often a challenge for most physicians given its extremely low incidence and different clinico-pathological presentations. We report the case of a 56-year old patient native to Puerto Rico suspected of sporadic Creutzfeldt-Jakob disease (sCD). The symptoms at onset were notorious for bilateral cortical blindness followed by rapidly progressive cognitive decline, visual deficit, increased levels of CSF 14-3-3 and tau along with positive brain MRI and EEG, are highly indicative of CJD. The definite diagnosis was confirmed by the National Prion Disease Pathology Surveillance Center (NPDPSC), in Cleveland, Ohio, USA. Lack of genetic mutations in the prion protein (PrP) gene, widespread histopathological changes and the accumulation of scrapie PrP (PrPSc) in the brain confirmed the diagnosis of sCJD. The patient, admitted to our institution in 2011, represents the first detailed report of sCJD in a native Puerto Rican patient living in Puerto Rico.

  7. Case series of probable sporadic Creutzfeldt-Jakob disease from Eastern India

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    Atanu Biswas

    2013-01-01

    Full Text Available Background: Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by prion protein. It is still considered rare in countries like India. This is probably due to nonavailability of autopsy studies in majority of the center. The recent European diagnostic criterion for sporadic CJD (sCJD is useful for making an early diagnosis. Objective: To report a series of patients of probable sCJD from a neurology institute of eastern India. Materials and Methods: Patients of rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause including electroencephalography (EEG, magnetic resonance imaging (MRI of brain, and cerebrospinal fluid analysis. Results: A total 10 patients of probable sCJD diagnosed using the European diagnostic criterion between December 2011 and January 2013. The clinical features are consistent with other reported series. While 60% of patients had the classical EEG findings, 100% had typical MRI features. Eight patients died within a mean duration of 4.56 months from the disease onset. Conclusions: The clinical features are similar to other reported series. Our observation raises question about the prevalence of this disease in India which needs more elaborate studies.

  8. Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Mikol, Jacqueline; Delisle, Marie-Bernadette; Uro-Coste, Emmanuelle; Zeng, Liang; Abouelsaad, Mai; Gazgalis, Dimitris; Martinez, Manuel Camacho; Wang, Gong-Xian; Brown, Paul; Ironside, James W.; Gambetti, Pierluigi; Kong, Qingzhong; Zou, Wen-Quan

    2014-01-01

    Differentiating iatrogenic Creutzfeldt-Jakob disease (iCJD) from sporadic CJD (sCJD) would be useful for the identification and prevention of human-to-human prion transmission. Currently, the diagnosis of iCJD depends on identification of a recognized source of contamination to which patients have been exposed, in addition to fulfilling basic requirements for the establishment of diagnosis of CJD. Attempts to identify differences in clinical manifestations, neuropathological changes and pathological prion protein (PrPSc) between iCJD and sCJD have been unsuccessful. In the present study, using a variety of more sophisticated methods including sucrose step gradient sedimentation, conformational stability immunoassay, protein misfolding cyclic amplification (PMCA), fragment-mapping, and transmission study, we show no significant differences in gel profiles, oligomeric state, conformational stability and infectivity of PrPSc between iCJD and sCJD. However, using PMCA, we find that convertibility and amplification efficiency of PrPSc is greater in iCJD than in sCJD in a polymorphism-dependent manner. Moreover, two protease-resistant PrP C-terminal fragments (termed PrP-CTF12/13) were detected in all 9 cases of sCJD but not in 6 of 8 cases of iCJD tested in this study. The use of fragment mapping- and PMCA-based assays thus provides a means to distinguish most cases of iCJD from sCJD. PMID:25419482

  9. Medical Procedures and Risk for Sporadic Creutzfeldt-Jakob Disease, Japan, 1999–2008

    Science.gov (United States)

    Hamaguchi, Tsuyoshi; Noguchi-Shinohara, Moeko; Nozaki, Ichiro; Nakamura, Yosikazu; Sato, Takeshi; Kitamoto, Tetsuyuki; Mizusawa, Hidehiro

    2009-01-01

    To elucidate the association between medical procedures and sporadic Creutzfeldt-Jakob disease (sCJD), we analyzed medical procedures (any surgical procedure, neurosurgery, ophthalmic surgery, and blood transfusion) for patients registered by the CJD Surveillance Committee in Japan during 1999–2008. We conducted an age-stratified case–control study with 753 sCJD patients and 210 controls and a study of patients who underwent neurosurgical or ophthalmic surgical procedures at the same hospital. Although the control group was relatively small, no evidence was found that prion disease was transmitted through the investigated medical procedures before onset of sCJD. After onset of sCJD, 4.5% of the sCJD patients underwent operations, including neurosurgical for 0.8% and ophthalmic for 1.9%; no special precautions against transmission of prion diseases were taken. Fortunately, we have not identified patients with prion disease attributed to these operations. Our findings indicate that surgical procedures or blood transfusion had little effect on the incidence of sCJD. PMID:19193271

  10. Cerebrospinal fluid markers in the differentiation of molecular subtypes of sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Gmitterová, K; Heinemann, U; Krasnianski, A; Gawinecka, J; Zerr, I

    2016-06-01

    Cerebrospinal fluid (CSF) analysis supports the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) when applied within an adequate clinical context. A diagnostic potential has been attributed to CSF proteins such as 14-3-3, but also tau protein, phosphorylated tau (181P) (p-tau) protein, amyloid β1-42 , S100B and neuron-specific enolase (NSE). There has been only limited information available about the contribution of CSF analysis in the differentiation of various molecular sCJD subtypes. The CSF levels of the aforementioned proteins from 73 sCJD patients with distinct molecular subtypes were determined. Differences in tau values were significant amongst the homozygous patients (MM and VV genotype) compared to the heterozygous group (P = 0.07 and P = 0.02 respectively). Significantly higher CSF tau levels (P = 0.003) and NSE (P = 0.02) but lower p-tau/tau ratio (P = 0.01) were observed in MM1 compared to MM2 patients. The p-tau/tau ratio enabled the differentiation of MV genotype with higher levels in PrP(sc) type 2 (P = 0.04). Elevation of S100B (P disease duration and clinical stage influenced the test sensitivity in all proteins. Cerebrospinal fluid protein levels might be useful in the pre-mortem differentiation of molecular sCJD subtypes when the codon 129 genotype is known. © 2016 EAN.

  11. Laminar Distribution of the Pathological Changes in Sporadic and Variant Creutzfeldt-Jakob Disease

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    R. A. Armstrong

    2011-01-01

    Full Text Available The laminar distributions of the pathological changes in the cerebral cortex were compared in the prion diseases sporadic Creutzfeldt-Jakob disease (sCJD and variant CJD (vCJD. First, in some cortical regions, the vacuolation (“spongiform change” was more generally distributed across the cortex in sCJD. Second, there was greater neuronal loss in the upper cortex in vCJD and in the lower cortex in sCJD. Third, the “diffuse” and “florid” prion protein (PrPsc deposits were more frequently distributed in the upper cortex in vCJD and the “synaptic” deposits in the lower cortex in sCJD. Fourth, there was a significant gliosis mainly affecting the lower cortex of both disorders. The data suggest that the pattern of cortical degeneration is different in sCJD and vCJD which may reflect differences in aetiology and the subsequent spread of prion pathology within the brain.

  12. Factors influencing the survival period in Japanese patients with sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Iwasaki, Yasushi; Akagi, Akio; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2015-10-15

    Although Japanese cases of sporadic Creutzfeldt-Jakob disease (sCJD) generally involve longer survival periods compared to those from other countries, details regarding the factors influencing survival are unclear. To determine the influence of certain factors on survival, we retrospectively assessed 51 Japanese MM1-type sCJD patients with respect to background, clinical course, and disease management. No significant differences were found between men and women, tracheotomy and nontracheotomy patients, or patients treated in public and other types of hospitals. Although the survival period of tube-fed patients was significantly longer than that of patients who were not tube fed, survival of patients fed via a nasal tube did not differ significantly from that of gastrostomy-fed patients. The proportion of tube-fed patients was 68.6% (35/51). Disease duration was not significantly associated with age or year of onset. However, it was associated with time from onset to first recognition of myoclonus, first recognition of periodic sharp-wave complexes on electroencephalogram, and progression to the akinetic mutism state. Mechanical ventilation was not performed for any patient. Because the total disease duration increased in cases with a slowly progressive clinical course as a natural outcome, we concluded that the most crucial factor contributing to the prolonged survival of Japanese sCJD patients was tube feeding once the akinetic mutism state had been reached. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. LGI1 antibody encephalopathy overlapping with sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kim, Boaz; Yoo, Patrick; Sutherland, Tom; Boyd, Alison; Stehmann, Christiane; McLean, Catriona

    2016-01-01

    Objective: To report a rare case of leucine-rich, glioma inactivated 1 (LGI1) antibody–mediated autoimmune encephalopathy clinically overlapping with pathologically confirmed sporadic Creutzfeldt-Jakob disease (CJD). Methods: The patient was investigated with repeated brain MRI, EEG, CSF examination, whole-body fluorodeoxy-glucose positron emission tomography, genetic analysis of the prion protein gene (PRNP), and extensive serologic screening for paraneoplastic and autoimmune encephalopathy markers. Written informed consent was obtained from the patient's next of kin for access to clinical files for research purposes and for publication. Results: The patient was a 77-year-old man who presented with faciobrachial dystonic seizures (FBDS) secondary to LGI1 antibody–mediated autoimmune encephalopathy, with suggestive MRI findings and a complete response to treatment with combinatorial immunosuppression. Stereotactic biopsy of a nonenhancing T1 hyperintense basal ganglia lesion during the initial FBDS phase, albeit following immunosuppression, did not disclose evidence of lymphocytic inflammation. Following full remission of the FBDS, the patient manifested a rapidly progressive dementia associated with gross motor decline confirmed to be CJD at autopsy (molecular subtype VV3), with no evidence of a pathogenic PRNP mutation. Conclusions: Our patient highlights that these rare diseases are not invariably mutually exclusive and underscores the benefits of comprehensive neuropathologic examination of the brain to achieve an accurate diagnosis, especially in complex cases when the clinical trajectory dramatically deviates and a concomitant disease may need to be conscientiously considered to best explain the new clinical course. PMID:27354985

  14. Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany.

    Science.gov (United States)

    Krasnianski, Anna; Bohling, Geeske T; Heinemann, Uta; Varges, Daniela; Meissner, Bettina; Schulz-Schaeffer, Walter J; Reif, Andreas; Zerr, Inga

    2017-01-01

    The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD. The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype. We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type. Neuropsychological symptoms were very frequent in our patients (96%) and occurred as early as in the first third of the disease course. Besides amnesia and impaired attention (89% each), frontal lobe syndrome (75%), aphasia (63%), and apraxia (57%) were the most common neuropsychological deficits. There was no statistically significant difference with regard to frequency of neuropsychological symptoms between the subtypes. In MV2 and VV2 patients, the onset of neuropsychological symptoms was significantly later than in all other subtypes. We provide the first detailed analysis of neuropsychological symptoms in a large group of sCJD patients with known M129 V genotype and prion protein type. We suggest that the rate of progression of neuropsychological symptoms is subtype-specific. These data may improve the diagnosis in atypical sCJD subtypes.

  15. Peripheral Tissue Involvement in Sporadic, Iatrogenic, and Variant Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Head, Mark W.; Ritchie, Diane; Smith, Nadine; McLoughlin, Victoria; Nailon, William; Samad, Sazia; Masson, Stephen; Bishop, Matthew; McCardle, Linda; Ironside, James W.

    2004-01-01

    Human prion diseases are rare fatal neurodegenerative conditions that occur as acquired, familial, or idiopathic disorders. A key event in their pathogenesis is the accumulation of an altered form of the prion protein, termed PrPSc, in the central nervous system. A novel acquired human prion disease, variant Creutzfeldt-Jakob disease, is thought to result from oral exposure to the bovine spongiform encephalopathy agent. This disease differs from other human prion diseases in its neurological, neuropathological, and biochemical phenotype. We have used immunohistochemistry and Western blot techniques to analyze the tissue distribution and biochemical properties of PrPSc in peripheral tissues in a unique series of nine cases of variant Creutzfeldt-Jakob disease. We have compared this with the distribution and biochemical forms found in all of the major subtypes of sporadic Creutzfeldt-Jakob disease and in a case of iatrogenic Creutzfeldt-Jakob disease associated with growth hormone therapy. The results show that involvement of the lymphoreticular system is a defining feature of variant Creutzfeldt-Jakob disease, but that the biochemical isoform of PrPSc found is influenced by the cell type in which it accumulates. PMID:14695328

  16. A field guide to pandemic, epidemic and sporadic clones of methicillin-resistant Staphylococcus aureus.

    LENUS (Irish Health Repository)

    Monecke, Stefan

    2011-04-01

    In recent years, methicillin-resistant Staphylococcus aureus (MRSA) have become a truly global challenge. In addition to the long-known healthcare-associated clones, novel strains have also emerged outside of the hospital settings, in the community as well as in livestock. The emergence and spread of virulent clones expressing Panton-Valentine leukocidin (PVL) is an additional cause for concern. In order to provide an overview of pandemic, epidemic and sporadic strains, more than 3,000 clinical and veterinary isolates of MRSA mainly from Germany, the United Kingdom, Ireland, France, Malta, Abu Dhabi, Hong Kong, Australia, Trinidad & Tobago as well as some reference strains from the United States have been genotyped by DNA microarray analysis. This technique allowed the assignment of the MRSA isolates to 34 distinct lineages which can be clearly defined based on non-mobile genes. The results were in accordance with data from multilocus sequence typing. More than 100 different strains were distinguished based on affiliation to these lineages, SCCmec type and the presence or absence of PVL. These strains are described here mainly with regard to clinically relevant antimicrobial resistance- and virulence-associated markers, but also in relation to epidemiology and geographic distribution. The findings of the study show a high level of biodiversity among MRSA, especially among strains harbouring SCCmec IV and V elements. The data also indicate a high rate of genetic recombination in MRSA involving SCC elements, bacteriophages or other mobile genetic elements and large-scale chromosomal replacements.

  17. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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    Bourdon Violaine

    2011-01-01

    Full Text Available Abstract Background Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1 tumor suppressor gene were described in familial and sporadic schwannomatosis patients. Methods To delineate the SMARCB1 gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas. Results Nine variants scattered along the sequence of SMARCB1 were identified. Five of them were classified as deleterious. All five patients carrying a SMARCB1 mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age. Conclusions These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene.

  18. Chaperone-mediated autophagy components are upregulated in sporadic inclusion-body myositis muscle fibres.

    Science.gov (United States)

    Cacciottolo, M; Nogalska, A; D'Agostino, C; Engel, W K; Askanas, V

    2013-12-01

    Sporadic inclusion-body myositis (s-IBM) is an age-associated degenerative muscle disease. Characteristic features are muscle-fibre vacuolization and intramuscle-fibre accumulations of multiprotein aggregates, which may result from the demonstrated impairments of the 26S proteasome and autophagy. Chaperone-mediated autophagy (CMA) is a selective form of lysosomal degradation targeting proteins carrying the KFERQ motif. Lysosome-associated membrane protein type 2A (LAMP2A) and the heat-shock cognate protein 70 (Hsc70) constitute specific CMA components. Neither CMA components nor CMA activity has been studied in normal or disease human muscle, to our knowledge. We studied CMA components by immunocytochemistry, immunoblots, real-time PCR and immunoprecipitation in: (a) 16 s-IBM, nine aged-matched normal and nine disease control muscle biopsies; and (b) cultured human muscle fibres (CHMFs) with experimentally inhibited activities of either the 26S proteasome or autophagy. Compared with age-matched controls, in s-IBM muscle, LAMP2A and Hsc70 were on a given transverse section accumulated as aggregates in approximately 5% of muscle fibres, where they (a) colocalized with each other and α-synuclein (α-syn), a CMA-targeted protein; and (b) were bound to each other and to α-syn by immunoprecipitation. By immunoblots, LAMP2A was increased sevenfold P pathogenic aspect in s-IBM. © 2013 British Neuropathological Society.

  19. Blood trace metals in a sporadic amyotrophic lateral sclerosis geographical cluster.

    Science.gov (United States)

    De Benedetti, Stefano; Lucchini, Giorgio; Del Bò, Cristian; Deon, Valeria; Marocchi, Alessandro; Penco, Silvana; Lunetta, Christian; Gianazza, Elisabetta; Bonomi, Francesco; Iametti, Stefania

    2017-06-01

    Amyotrophic lateral sclerosis (ALS) is a fatal disorder with unknown etiology, in which genetic and environmental factors interplay to determine the onset and the course of the disease. Exposure to toxic metals has been proposed to be involved in the etiology of the disease either through a direct damage or by promoting oxidative stress. In this study we evaluated the concentration of a panel of metals in serum and whole blood of a small group of sporadic patients, all living in a defined geographical area, for which acid mine drainage has been reported. ALS prevalence in this area is higher than in the rest of Italy. Results were analyzed with software based on artificial neural networks. High concentrations of metals (in particular Se, Mn and Al) were associated with the disease group. Arsenic serum concentration resulted lower in ALS patients, but it positively correlated with disease duration. Comet assay was performed to evaluate endogenous DNA damage that resulted not different between patients and controls. Up to now only few studies considered geographically well-defined clusters of ALS patients. Common geographical origin among patients and controls gave us the chance to perform metallomic investigations under comparable conditions of environmental exposure. Elaboration of these data with software based on machine learning processes has the potential to be extremely useful to gain a comprehensive view of the complex interactions eventually leading to disease, even in a small number of subjects.

  20. Seasonal correlation of sporadic schizophrenia to Ixodes ticks and Lyme borreliosis

    Directory of Open Access Journals (Sweden)

    Fritzsche Markus

    2002-11-01

    Full Text Available Abstract Background Being born in winter and spring is considered one of the most robust epidemiological risk factors for schizophrenia. The aetiology and exact timing of this birth excess, however, has remained elusive so far. Since during phylogeny, Borrelia DNA has led to multiple germ-line mutations within the CB1 candidate gene for schizophrenia, a meta analysis has been performed of all papers on schizophrenic birth excesses with no less than 3000 cases each. All published numerical data were then plotted against the seasonal distributions of Ixodes ticks worldwide. Results In the United States, Europe and Japan the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodes ticks nine months earlier at the time of conception. South of the Wallace Line, which limits the spread of Ixodes ticks and Borrelia burgdorferi into Australia, seasonal trends are less significant, and in Singapore, being non-endemic for Ixodes ticks and Lyme disease, schizophrenic birth excesses are absent. Conclusion At present, it cannot be excluded that prenatal infection by B. burgdorferi is harmful to the implanting human blastocyst. The epidemiological clustering of sporadic schizophrenia by season and locality rather emphasises the risk to the unborn of developing a congenital, yet preventable brain disorder later in life.