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Sample records for huntington beach ca

  1. 75 FR 11939 - Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation

    Science.gov (United States)

    2010-03-12

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF LABOR Employment and Training Administration Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation Pursuant to Section 221 of the Trade Act of 1974, as amended, an...

  2. Temporal and spatial variability of fecal indicator bacteria in the surf zone off Huntington Beach, CA

    Science.gov (United States)

    Rosenfeld, L.K.; McGee, C.D.; Robertson, G.L.; Noble, M.A.; Jones, B.H.

    2006-01-01

    Fecal indicator bacteria concentrations measured in the surf zone off Huntington Beach, CA from July 1998-December 2001 were analyzed with respect to their spatial patterns along 23 km of beach, and temporal variability on time scales from hourly to fortnightly. The majority of samples had bacterial concentrations less than, or equal to, the minimum detection limit, but a small percentage exceeded the California recreational water standards. Areas where coliform bacteria exceeded standards were more prevalent north of the Santa Ana River, whereas enterococci exceedances covered a broad area both north and south of the river. Higher concentrations of bacteria were associated with spring tides. No temporal correspondence was found between these bacterial events and either the timing of cold water pulses near shore due to internal tides, or the presence of southerly swell in the surface wave field. All three fecal indicator bacteria exhibited a diel cycle, but enterococci rebounded to high nighttime values almost as soon as the sun went down, whereas coliform levels were highest near the nighttime low tide, which was also the lower low tide. ?? 2006 Elsevier Ltd. All rights reserved.

  3. Antibody engineering and therapeutics conference. The annual meeting of the antibody society, Huntington Beach, CA, December 7-11, 2014.

    Science.gov (United States)

    Larrick, James W; Parren, Paul W H I; Huston, James S; Plückthun, Andreas; Bradbury, Andrew; Tomlinson, Ian M; Chester, Kerry A; Burton, Dennis R; Adams, Gregory P; Weiner, Louis M; Scott, Jamie K; Alfenito, Mark R; Veldman, Trudi; Reichert, Janice M

    2014-01-01

    The 25th anniversary of the Antibody Engineering & Therapeutics Conference, the Annual Meeting of The Antibody Society, will be held in Huntington Beach, CA, December 7-11, 2014. Organized by IBC Life Sciences, the event will celebrate past successes, educate participants on current activities and offer a vision of future progress in the field. Keynote addresses will be given by academic and industry experts Douglas Lauffenburger (Massachusetts Institute of Technology), Ira Pastan (National Cancer Institute), James Wells (University of California, San Francisco), Ian Tomlinson (GlaxoSmithKline) and Anthony Rees (Rees Consulting AB and Emeritus Professor, University of Bath). These speakers will provide updates of their work, placed in the context of the substantial growth of the industry over the past 25 years.

  4. Neuronal Ca(2+) dyshomeostasis in Huntington disease.

    Science.gov (United States)

    Giacomello, Marta; Oliveros, Juan C; Naranjo, Jose R; Carafoli, Ernesto

    2013-01-01

    The expansion of the N-terminal poly-glutamine tract of the huntingtin (Htt) protein is responsible for Huntington disease (HD). A large number of studies have explored the neuronal phenotype of HD, but the molecular aethiology of the disease is still very poorly understood. This has hampered the development of an appropriate therapeutical strategy to at least alleviate its symptoms. In this short review, we have focused our attention on the alteration of a specific cellular mechanism common to all HD models, either genetic or induced by treatment with 3-NPA, i.e. the cellular dyshomeostasis of Ca(2+). We have highlighted the direct and indirect (i.e. transcriptionally mediated) effects of mutated Htt on the maintenance of the intracellular Ca(2+) balance, the correct modulation of which is fundamental to cell survival and the disturbance of which plays a key role in the death of the cell.

  5. Huntington beach shoreline contamination investigation, phase III: coastal circulation and transport patterns : the likelihood of OCSD's plume impacting Huntington beach shoreline

    Science.gov (United States)

    Noble, Marlene; Xu, Jingping; Rosenfeld, Leslie; Largier, John; Hamilton, Peter; Jones, Burt; Robertson, George

    2003-01-01

    A consortium of agencies have conducted an extensive investigation of the coastal ocean circulation and transport pathways off Huntington Beach, with the aim of identifying any causal links that may exist between the offshore discharge of wastewater by OCSD and the significant bacterial contamination observed along the Huntington Beach shoreline. This is the third study supported by OCSD to determine possible land-based and coa Although the study identifies several possible coastal ocean pathways by which diluted wastewater may be transported to the beach, including internal tide, sea-breeze and subtidal flow features, there were no direct observations of either the high bacteria concentrations seen in the OCSD plume at the shelf break reaching the shoreline in significant levels or of an association between the existence of a coastal ocean process and beach contamination at or above AB411 levels. It is concluded that the OCSD plume is not a major cause of beach contamination; no causal links could be demonstrated. This conclusion is based on the absence of direct observation of plume-beach links, on analysis of the spatial and temporal patterns of shoreline contamination and coastal ocean processes, and on the observation of higher levels of contamination at the beach than in the plume.

  6. A temporal and ecological analysis of the Huntington Beach Wetlands through an unmanned aerial system remote sensing perspective

    Science.gov (United States)

    Rafiq, Talha

    Wetland monitoring and preservation efforts have the potential to be enhanced with advanced remote sensing acquisition and digital image analysis approaches. Progress in the development and utilization of Unmanned Aerial Systems (UAS) and Unmanned Aerial Vehicles (UAV) as remote sensing platforms has offered significant spatial and temporal advantages over traditional aerial and orbital remote sensing platforms. Photogrammetric approaches to generate high spatial resolution orthophotos of UAV acquired imagery along with the UAV's low-cost and temporally flexible characteristics are explored. A comparative analysis of different spectral based land cover maps derived from imagery captured using UAV, satellite, and airplane platforms provide an assessment of the Huntington Beach Wetlands. This research presents a UAS remote sensing methodology encompassing data collection, image processing, and analysis in constructing spectral based land cover maps to augment the efforts of the Huntington Beach Wetlands Conservancy by assessing ecological and temporal changes at the Huntington Beach Wetlands.

  7. Effect of metallic additives on in situ combustion of Huntington Beach crude experiments

    Energy Technology Data Exchange (ETDEWEB)

    Baena, C.J.; Castanier, L.M.; Brigham, W.E.

    1990-08-01

    The economics and applicability of an in-situ combustion process for the recovery of crude oil are dictated to a large extent by the nature and the amount of fuel formed during the process. The aim of this work is to use combustion tube studies to determine on a quantitative basis, how the nature and the amount of fuel formed could be changed by the presence of metallic additives. These experiments follow from the qualitative observations on the effect of metallic additives on the in-situ combustion of Huntington Beach crude oil made by De los Rios (1987) at SUPRI. He performed kinetic studies on the oxidation of Huntington Beach crude in porous media and showed that the nature of the fuel formed changed when metallic additives were present. Combustion tube runs were performed using the metallic additives: ferrous chloride (FeCl{sub 2{center dot}}4H{sub 2}O), zinc chloride (ZnCl{sub 2}) and stannic chloride (SnCl{sub 4{center dot}}5H{sub 2}O). Unconsolidated cores were prepared by mixing predetermined amounts of an aqueous solution of the metal salt, Huntington Beach crude oil, Ottawa sand and clay in order to achieve the desired fluid saturations. The mixture was then tamped into the combustion tube. Dry air combustion tube runs were performed keeping the conditions of saturation, air flux and injection pressure approximately the same during each run. The nature of the fuel formed and its impact on the combustion parameters were determined and compared with a control run -- an experiment performed with no metallic additive. 30 refs., 33 figs., 6 tabs.

  8. High resolution renderings and interactive visualization of the 2006 Huntington Beach experiment

    Science.gov (United States)

    Im, T.; Nayak, A.; Keen, C.; Samilo, D.; Matthews, J.

    2006-12-01

    The Visualization Center at the Scripps Institution of Oceanography investigates innovative ways to represent graphically interactive 3D virtual landscapes and to produce high resolution, high quality renderings of Earth sciences data and the sensors and instruments used to collect the data . Among the Visualization Center's most recent work is the visualization of the Huntington Beach experiment, a study launched in July 2006 by the Southern California Ocean Observing System (http://www.sccoos.org/) to record and synthesize data of the Huntington Beach coastal region. Researchers and students at the Visualization Center created visual presentations that combine bathymetric data provided by SCCOOS with USGS aerial photography and with 3D polygonal models of sensors created in Maya into an interactive 3D scene using the Fledermaus suite of visualization tools (http://www.ivs3d.com). In addition, the Visualization Center has produced high definition (HD) animations of SCCOOS sensor instruments (e.g. REMUS, drifters, spray glider, nearshore mooring, OCSD/USGS mooring and CDIP mooring) using the Maya modeling and animation software and rendered over multiple nodes of the OptIPuter Visualization Cluster at Scripps. These visualizations are aimed at providing researchers with a broader context of sensor locations relative to geologic characteristics, to promote their use as an educational resource for informal education settings and increasing public awareness, and also as an aid for researchers' proposals and presentations. These visualizations are available for download on the Visualization Center website at http://siovizcenter.ucsd.edu/sccoos/hb2006.php.

  9. Internal waves and surf zone water quality at Huntington Beach, California

    Science.gov (United States)

    Wong, H.; Santoro, A.; Nidzieko, N. J.; Hench, J. L.; Boehm, A. B.

    2011-12-01

    This study characterized diurnal, semi-diurnal, and high-frequency internal wave field at Huntington Beach, California, USA and the connection between internal waves and surf zone water quality. An array of oceanographic moorings was deployed in the summer of 2005 and 2006 at 10-20 meter depths offshore of the beach to observe internal waves and cross-shore exchange. Concurrently, surf zone water quality was assessed twice daily at an adjacent station (Huntington State Beach) with measurements of phosphate, dissolved inorganic nitrogen, silicate, chlorophyll a, fecal indicator bacteria, and the human-specific fecal DNA marker in Bacteroidales. Spectral analysis of water temperature shows well-defined spectral peaks at diurnal and semi-diurnal frequencies. Complex Empirical Orthogonal Function analysis of observed currents reveals that the baroclinic component (summation of second to fifth principal components) accounted for 30% of the total variance in the currents in both years, indicating the importance of density-driven flow during the summer when the water column was stratified. The major axis of the first principal component was oriented alongshore, whereas that of the second and third principal components made an angle of 25 to 55 degree with the cross-shore direction. Arrival of cold subthermocline water in the very near shore (within 1 km of the surf zone) was characterized by strong onshore flow near the bottom of the water column. The near bottom, baroclinic, cross-shore current was significantly lag-correlated with the near bottom temperature data along a cross-shore transect towards shore, indicative of shoreward transport of cold subthermocline water. Wavelet analysis of temperature data showed that non-stationary temperature fluctuations were correlated with buoyancy frequency and the near bottom cross-shore baroclinic current. During periods of large temperature fluctuations, the majority of the variance was within the semi-diurnal band; however, the

  10. Exploring rippled scour depressions offshore Huntington Beach, CA

    Science.gov (United States)

    Phillips, Eleyne L.; Storlazzi, Curt D.; Dartnell, Peter; Edwards, Brian D.

    2007-01-01

    U.S. Geological Survey (USGS) scientists used 1999 multibeam data, and 2002 lidar data collected on the inner shelf off southern California to investigate a field of (<1 m) features, termed "Rippled Scour Depressions" (RSDs). RSDs are elongate, shore-normal, and bathymetrically depressed features; their morphology was determined from multibeam and lidar bathymetry. Wavelengths of ripples seen within RSDs and on the surrounding seafloor were calculated from photography and video collected in 2004 and related to sediment samples collected in the same year. The RSDs were divided into two areas: Region I RSDs contained large (∼80 cm wavelength), straight-crested ripples with coarse-grained lag, and decreased in area between 1999 and 2002; Region II RSDs were smaller, in shallower water, closer to shore, and contained shorter (∼30 cm wavelength) ripples, and increased in area from 1999–2002. The RSDs did not display marked alongshore asymmetry.

  11. 78 FR 39599 - Safety Zone; Independence Day Fireworks, Kings Beach, CA

    Science.gov (United States)

    2013-07-02

    ... SECURITY Coast Guard 33 CFR Part 165 Safety Zone; Independence Day Fireworks, Kings Beach, CA AGENCY: Coast... safety zone for the Independence Day Fireworks, Kings Beach, CA in the Captain of the Port, San Francisco... Marina to the launch site off of Kings Beach, CA in approximate position 39 13'55'' N, 120 01'42'' W...

  12. 77 FR 38005 - Safety Zone; Independence Day Fireworks, Kings Beach, CA

    Science.gov (United States)

    2012-06-26

    ... SECURITY Coast Guard 33 CFR Part 165 Safety Zone; Independence Day Fireworks, Kings Beach, CA AGENCY: Coast... safety zone for the Kings Beach Independence Day Fireworks display from 7 a.m. until 10 p.m. on July 3... from Tahoe Keys Marina to the launch site off of Kings Beach, CA at position 39 13'55'' N, 120...

  13. Distribution and sources of surfzone bacteria at Huntington Beach before and after disinfection on an ocean outfall - A frequency-domain analysis

    Science.gov (United States)

    Noble, M.A.; Xu, J. P.; Robertson, G.L.; Rosenfeld, L.K.

    2006-01-01

    Fecal indicator bacteria (FIB) were measured approximately 5 days a week in ankle-depth water at 19 surfzone stations along Huntington Beach and Newport Beach, California, from 1998 to the end of 2003. These sampling periods span the time before and after treated sewage effluent, discharged into the coastal ocean from the local outfall, was disinfected. Bacterial samples were also taken in the vicinity of the outfall during the pre- and post-disinfection periods. Our analysis of the results from both data sets suggest that land-based sources, rather than the local outfall, were the source of the FIB responsible for the frequent closures and postings of local beaches in the summers of 2001 and 2002. Because the annual cycle is the dominant frequency in the fecal and total coliform data sets at most sampling stations, we infer that sources associated with local runoff were responsible for the majority of coliform contamination along wide stretches of the beach. The dominant fortnightly cycle in enterococci at many surfzone sampling stations suggests that the source for these relatively frequent bacteria contamination events in summer is related to the wetting and draining of the land due to the large tidal excursions found during spring tides. Along the most frequently closed section of the beach at stations 3N-15N, the fortnightly cycle is dominant in all FIBs. The strikingly different spatial and spectral patterns found in coliform and in enterococci suggest the presence of different sources, at least for large sections of beach. The presence of a relatively large enterococci fortnightly cycle along the beaches near Newport Harbor indicates that contamination sources similar to those found off Huntington Beach are present, though not at high enough levels to close the Newport beaches. ?? 2006 Elsevier Ltd. All rights reserved.

  14. Microstructural Observations of the San Gregorio Fault, Moss Beach, CA.

    Science.gov (United States)

    Baer, S. H.; Tobin, H. J.; Gettemy, G. L.

    2001-12-01

    The Seal Cove Strand of the San Gregorio Fault at Moss Beach, Ca. is an active, large-offset, dominantly strike-slip fault which is exceptionally well exposed. It cuts the Miocene Purisima Formation at the surface, juxtaposing moderately lithified sandstone and conglomerate interbeds in the hanging wall with mudstones in the footwall. Previous and ongoing work shows that styles of deformation and seismic velocities are dissimilar across the fault zone, and within individual lithologic units. Architectural elements of the fault zone include a 12-30 m wide, variably-foliated central clay-rich core zone, an apparent mixed zone (as described recently for faults in unlithified clastic sediments in other tectonic settings), and a surrounding damage zone. In tandem with an ongoing seismic velocity study, we have characterized microstructural textures present across the fault exposure, applying petrographic study, backscatter electron (BSE) and SEM imaging, and electron microprobe analysis. The resulting characterization elucidates both mineralogic and lithification-state controls on deformation mechanisms. Detailed analysis of microstructural fabrics documents a diversity of deformation mechanisms, including cataclasis, particulate flow, and fracturing, consistent with an interpreted stress path based on deposition, progressive lithification, and finally uplift unloading of the fault rocks, all during ongoing fault displacement. Documentation of characteristics of fabrics in each structural element, especially micro-fracture density, has important implications for interpretation of the fault zone seismic velocity structure.

  15. 76 FR 16634 - Seal Beach National Wildlife Refuge, Orange County, CA; Draft Comprehensive Conservation Plan...

    Science.gov (United States)

    2011-03-24

    ... Fish and Wildlife Service Seal Beach National Wildlife Refuge, Orange County, CA; Draft Comprehensive Conservation Plan/Environmental Assessment AGENCY: Fish and Wildlife Service, Interior. ACTION: Notice of... fish and wildlife management, conservation, legal mandates, and our policies. In addition to...

  16. 75 FR 12731 - Foreign-Trade Zone 50-Long Beach, CA; Site Renumbering Notice

    Science.gov (United States)

    2010-03-17

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF COMMERCE Foreign-Trade Zones Board Foreign-Trade Zone 50--Long Beach, CA; Site Renumbering Notice Foreign-Trade... this revision, the site list for FTZ 50 will be as follows: Site 1 (8 acres)--909 East Colon...

  17. Achieving Energy Savings in Municipal Construction in Long Beach, CA

    Energy Technology Data Exchange (ETDEWEB)

    Parrish, Kristen [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Regnier, Cindy [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

    2012-01-01

    Long Beach Gas and Oil (LBGO), the public gas utility in Long Beach, California, partnered with the U.S. Department of Energy (DOE) to develop and implement solutions to build a new, low-energy modular office building that is at least 50% below requirements set by Energy Standard 90.1-2007 of the American Society of Heating, Refrigerating, and Air-conditioning Engineers (ASHRAE), the American National Standards Institute (ANSI), and the Illuminating Engineering Society of America (IESNA) as part of DOE’s Commercial Building Partnerships (CBP) program.3 The LBGO building, which demonstrates that modular construction can be very energy efficient, is expected to exceed the ASHRAE baseline by about 45%. The new 15,000-square foot (ft2) LBGO office building has two stories and houses private offices, open-plan cubicle offices, and a conference room and call center on the second floor. The building’s modular nature allowed LBGO to realize the cost benefits of fasttracked construction while saving substantial energy and reducing operational costs. The project was funded by the utility’s ratepayer revenue, which imposed a tight budget limit. The design process was a collaborative effort involving LBGO and its design-build team, Lawrence Berkeley National Laboratory (Berkeley Lab), and subcontractors Stantec (formerly Burt Hill) and LHB Inc. The team proposed efficiency measures based on computer modeling of the building in full compliance with ASHRAE 90.1-2007; in the modeled building, the lighting and cooling systems were the largest energy users, so increasing the efficiency of these systems was a top priority. Promising measures were modeled to estimate their energy performance, and each measure was evaluated for its feasibility within the budget.

  18. Currents, temperature, conductivity, attenuation, and sigma-theta data from moorings deployed off the coast of Orange County, CA from platforms ROBERT GORDON SPROUL and YELLOWFIN from June 13, 2001 to January 22, 2003 (NODC Accession 0067572)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — A large number of moorings were deployed in the summer of 2001 off Huntington Beach CA to monitor coastal ocean process that transport suspended material across the...

  19. 75 FR 69621 - Foreign-Trade Zone 50-Long Beach, CA; Application for Reorganization/Expansion Under Alternative...

    Science.gov (United States)

    2010-11-15

    ...-Trade Zone 50--Long Beach, CA; Application for Reorganization/Expansion Under Alternative Site Framework...)--909 East Colon Street, Wilmington; Site 2 (1,844 acres)-- California Commerce Center, Ontario; Site...

  20. 75 FR 17202 - Proposed Establishment of Long Beach, CA, Class C Airspace Area and Revision of Santa Ana (John...

    Science.gov (United States)

    2010-04-05

    ... Revision of Santa Ana (John Wayne), CA, Class C Airspace Area; Public Meetings AGENCY: Federal Aviation... establish Class C airspace at Long Beach, CA, and revise the Santa Ana (John Wayne) Class C airspace area... Santa Ana (John Wayne), CA, Class C airspace area will be accepted. (b) The meetings will be open to...

  1. Marine debris in central California: quantifying type and abundance of beach litter in Monterey Bay, CA.

    Science.gov (United States)

    Rosevelt, C; Los Huertos, M; Garza, C; Nevins, H M

    2013-06-15

    Monitoring beach litter is essential for reducing ecological threats towards humans and wildlife. In Monterey Bay, CA information on seasonal and spatial patterns is understudied. Central California's coastal managers require reliable information on debris abundance, distribution, and type, to support policy aimed at reducing litter. We developed a survey method that allowed for trained citizen scientists to quantify the types and abundance of beach litter. Sampling occurred from July 2009-June 2010. Litter abundance ranged from 0.03 to 17.1 items m(-2). Using a mixed model approach, we found season and location have the greatest effect on litter abundance. Styrofoam, the most numerically abundant item, made up 41% of the total amount of litter. Unexpected items included fertilizer pellets. The results of this study provide a baseline on the types and abundance of litter on the central coast and have directly supported policy banning Styrofoam take out containers from local municipalities.

  2. Ca(2+) handling in isolated brain mitochondria and cultured neurons derived from the YAC128 mouse model of Huntington's disease.

    Science.gov (United States)

    Pellman, Jessica J; Hamilton, James; Brustovetsky, Tatiana; Brustovetsky, Nickolay

    2015-08-01

    We investigated Ca(2+) handling in isolated brain synaptic and non-synaptic mitochondria and in cultured striatal neurons from the YAC128 mouse model of Huntington's disease. Both synaptic and non-synaptic mitochondria from 2- and 12-month-old YAC128 mice had larger Ca(2+) uptake capacity than mitochondria from YAC18 and wild-type FVB/NJ mice. Synaptic mitochondria from 12-month-old YAC128 mice had further augmented Ca(2+) capacity compared with mitochondria from 2-month-old YAC128 mice and age-matched YAC18 and FVB/NJ mice. This increase in Ca(2+) uptake capacity correlated with an increase in the amount of mutant huntingtin protein (mHtt) associated with mitochondria from 12-month-old YAC128 mice. We speculate that this may happen because of mHtt-mediated sequestration of free fatty acids thereby increasing resistance of mitochondria to Ca(2+)-induced damage. In experiments with striatal neurons from YAC128 and FVB/NJ mice, brief exposure to 25 or 100 μM glutamate produced transient elevations in cytosolic Ca(2+) followed by recovery to near resting levels. Following recovery of cytosolic Ca(2+), mitochondrial depolarization with FCCP produced comparable elevations in cytosolic Ca(2+), suggesting similar Ca(2+) release and, consequently, Ca(2+) loads in neuronal mitochondria from YAC128 and FVB/NJ mice. Together, our data argue against a detrimental effect of mHtt on Ca(2+) handling in brain mitochondria of YAC128 mice. We demonstrate that mutant huntingtin (mHtt) binds to brain synaptic and nonsynaptic mitochondria and the amount of mitochondria-bound mHtt correlates with increased mitochondrial Ca(2+) uptake capacity. We propose that this may happen due to mHtt-mediated sequestration of free fatty acids thereby increasing resistance of mitochondria to Ca(2+)-induced damage.

  3. Coupling alongshore variations in wave energy to beach morphologic change using the SWAN wave model at Ocean Beach, San Francisco, CA

    Science.gov (United States)

    Eshleman, Jodi L.; Barnard, Patrick L.; Erikson, Li H.; Hanes, Daniel M.

    2007-01-01

    Coastal managers have faced increasing pressure to manage their resources wisely over the last century as a result of heightened development and changing environmental forcing. It is crucial to understand seasonal changes in beach volume and shape in order to identify areas vulnerable to accelerated erosion. Shepard (1950) was among the first to quantify seasonal beach cycles. Sonu and Van Beek (1971) and Wright et al. (1985) described commonly occurring beach states. Most studies utilize widest spaced 2-D cross shore profiles or shorelines extracted from aerial photographs (e.g. Winant et al. 1975; Aubrey, 1979, Aubrey and Ross, 1985; Larson and Kraus, 1994; Jimenez et al., 1977; Lacey and Peck, 1998; Guillen et al., 1999; Norcorss et al., 2002) to analyzed systematic changes in beach evolution. But with the exception of established field stations, such as Duck, NC (Birkemeier and Mason, 1984), ans Hazaki Oceanographical Research Station (HORS) in Japan (Katoh, 1997), there are very few beach change data sets with high temporal and spatial resolutions (e.g. Dail et al., 2000; Ruggiero et al., 2005; Yates et al., in press). Comprehensive sets of nearshore morphological data and local in situ measurements outside of these field stations are very rare and virtually non-existent high-energy coasts. Studied that have attempted to relate wave statistics to beach morphology change require some knowledge of the nearshore wave climate, and have had limited success using offshore measurement (Sonu and Van Beek, 1971; Dail et al., 2000). The primary objective of this study is to qualitatively compare spatially variable nearshore wave predictions to beach change measurements in order to understand the processes responsible for a persistent erosion 'hotspot' at Ocean Beach, San Francisco, CA. Local wave measurements are used to calibrate and validate a wave model that provides nearshore wave prediction along the beach. The model is run for thousands of binned offshore wave

  4. "EPA'S NATIONAL BEACHES STUDY: HUNTINGTON BEACH, 2003"

    Science.gov (United States)

    The original U. S. Environmental Protection Agency (EPA) recreational water health studies, initiated in 1972 and completed in 1982, were designed to determine the relationship between swimming-associated gastroenteritis and the quality of the bathing water. However, these healt...

  5. 78 FR 68858 - Seal Beach National Wildlife Refuge, Orange County, CA; Final Comprehensive Conservation Plan and...

    Science.gov (United States)

    2013-11-15

    ....fws.gov/refuge/Seal_Beach/what_we_do/planning.html . Email: Victoria_Touchstone@fws.gov . Include ``Seal Beach CCP'' in the subject line of the message. Fax: Attn: Victoria Touchstone, (619) 476-9150, extension 103. Mail: Victoria Touchstone, U.S. Fish and Wildlife Service, San Diego NWR Complex, P.O....

  6. Huntington's Disease

    Science.gov (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  7. Antibody engineering and therapeutics, The Annual Meeting of the Antibody Society: December 8-12, 2013, Huntington Beach, CA.

    Science.gov (United States)

    Almagro, Juan Carlos; Gilliland, Gary L; Breden, Felix; Scott, Jamie K; Sok, Devin; Pauthner, Matthias; Reichert, Janice M; Helguera, Gustavo; Andrabi, Raiees; Mabry, Robert; Bléry, Mathieu; Voss, James E; Laurén, Juha; Abuqayyas, Lubna; Barghorn, Stefan; Ben-Jacob, Eshel; Crowe, James E; Huston, James S; Johnston, Stephen Albert; Krauland, Eric; Lund-Johansen, Fridtjof; Marasco, Wayne A; Parren, Paul W H I; Xu, Kai Y

    2014-01-01

    The 24th Antibody Engineering & Therapeutics meeting brought together a broad range of participants who were updated on the latest advances in antibody research and development. Organized by IBC Life Sciences, the gathering is the annual meeting of The Antibody Society, which serves as the scientific sponsor. Preconference workshops on 3D modeling and delineation of clonal lineages were featured, and the conference included sessions on a wide variety of topics relevant to researchers, including systems biology; antibody deep sequencing and repertoires; the effects of antibody gene variation and usage on antibody response; directed evolution; knowledge-based design; antibodies in a complex environment; polyreactive antibodies and polyspecificity; the interface between antibody therapy and cellular immunity in cancer; antibodies in cardiometabolic medicine; antibody pharmacokinetics, distribution and off-target toxicity; optimizing antibody formats for immunotherapy; polyclonals, oligoclonals and bispecifics; antibody discovery platforms; and antibody-drug conjugates.

  8. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  9. Huntington disease

    Science.gov (United States)

    ... President of the Florida Society of Neurology (FSN). Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Huntington's Disease Read more Latest Health News Read more Health ...

  10. Learning about Huntington's Disease

    Science.gov (United States)

    ... Mouse Models Of Huntington's Disease 1998 News Release Learning About Huntington's Disease What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Huntington's Outreach ...

  11. Effect of Submarine Groundwater Discharge on Bacterial Indicators and Swimmer Health at Avalon Beach,CA,USA

    Science.gov (United States)

    Use of fecal indicator bacteria (FIB) for monitoring beach water quality is based on their co-occurrence with human pathogens, a relationship which can be dramatically altered by fate and transport processes after leaving the human intestine. We conducted a prospective cohort st...

  12. Psychopathology in Huntington's disease

    NARCIS (Netherlands)

    Duijn, Erik van

    2010-01-01

    Dit proefschrift begint met een overzichtsartikel van oorspronkelijke onderzoek naar psychopathologie bij mutatiedragers voor de ziekte van Huntington. Aansluitend worden de resultaten van een cohortstudie naar de aanwezigheid en ernst van psychopathologie bij mensen met de ziekte van Huntington in

  13. Psychopathology in Huntington's disease

    NARCIS (Netherlands)

    Duijn, Erik van

    2010-01-01

    Dit proefschrift begint met een overzichtsartikel van oorspronkelijke onderzoek naar psychopathologie bij mutatiedragers voor de ziekte van Huntington. Aansluitend worden de resultaten van een cohortstudie naar de aanwezigheid en ernst van psychopathologie bij mensen met de ziekte van Huntington in

  14. Correlations Between Emerita analoga and Profilicollis spp. as Influenced by Environmetal Factors at Ocean Beach, San Francisco CA

    Science.gov (United States)

    Wright, S.; Garza, F.; Zhang, P.

    2015-12-01

    Since 2002 the Careers in Science (CiS) intern program has monitored Ocean Beach in San Francisco, California for the population of Emerita analoga (Pacific Mole Crab) as part of a partnership program with the Long-term Monitoring Program and Experiential Training for Students (LiMPETS). LiMPETS is an organization that conducts citizen science with Bay Area youth such as the CiS interns. We specifically assist in the collection of Pacific Mole Crab population statistics at Ocean Beach during the summer from June through August. The purpose of collecting Pacific Mole Crabs is to monitor Acanthocephalan parasites (Profilicollis spp.) - to which Pacific Mole Crabs serve as intermediate hosts - and to learn more about our environment as Pacific Mole Crabs are indicator species. During our collections at Ocean Beach we record size, sex, and number of individuals at specific transects. We then take a random sample from the day, return to the lab, and record their sizes, sexes, and Acanthocephalan parasite load. The results of the collection and dissections are then entered into the LiMPETS online database for scientist and researchers to use. Our project will focus on correlations relating to the data collected (Pacific Mole Crab population, parasite load, abiotic and biotic factors, et cetera).

  15. Huntington's disease phenocopy syndromes.

    Science.gov (United States)

    Wild, Edward J; Tabrizi, Sarah J

    2007-12-01

    Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. Cohort studies have established the relative frequencies of known Huntington's disease phenocopy syndromes, whereas newly described ones have been characterized genetically, clinically, radiologically and pathologically. About 1% of suspected Huntington's disease cases emerge as phenocopy syndromes. Such syndromes are clinically important in their own right but may also shed light on the pathogenesis of Huntington's disease. Huntington's disease produces a range of clinical phenotypes, and the range of syndromes that may be responsible for Huntington's disease phenocopies is correspondingly wide. Cohort studies have established that, while the majority of phenocopy patients remain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SCA17, Huntington's disease-like syndrome 2 (HDL2), familial prion disease and Friedreich's ataxia. We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation disorders. We present an evidence-based framework for the genetic testing of Huntington's disease phenocopy cases.

  16. Huntington's Disease and Mitochondria.

    Science.gov (United States)

    Jodeiri Farshbaf, Mohammad; Ghaedi, Kamran

    2017-06-21

    Huntington's disease (HD) as an inherited neurodegenerative disorder leads to neuronal loss in striatum. Progressive motor dysfunction, cognitive decline, and psychiatric disturbance are the main clinical symptoms of the HD. This disease is caused by expansion of the CAG repeats in exon 1 of the huntingtin which encodes Huntingtin protein (Htt). Various cellular and molecular events play role in the pathology of HD. Mitochondria as important organelles play crucial roles in the most of neurodegenerative disorders like HD. Critical roles of the mitochondria in neurons are ATP generation, Ca(2+) buffering, ROS generation, and antioxidant activity. Neurons as high-demand energy cells closely related to function, maintenance, and dynamic of mitochondria. In the most neurological disorders, mitochondrial activities and dynamic are disrupted which associate with high ROS level, low ATP generation, and apoptosis. Accumulation of mutant huntingtin (mHtt) during this disease may evoke mitochondrial dysfunction. Here, we review recent findings to support this hypothesis that mHtt could cause mitochondrial defects. In addition, by focusing normal huntingtin functions in neurons, we purpose mitochondria and Huntingtin association in normal condition. Moreover, mHtt affects various cellular signaling which ends up to mitochondrial biogenesis. So, it could be a potential candidate to decline ATP level in HD. We conclude how mitochondrial biogenesis plays a central role in the neuronal survival and activity and how mHtt affects mitochondrial trafficking, maintenance, integrity, function, dynamics, and hemostasis and makes neurons vulnerable to degeneration in HD.

  17. [The Henry E. Huntington Library.

    Science.gov (United States)

    Abraham, Terry

    The biographical sketch of Henry E. Huntington includes a description of the establishment of the Huntington Library and the purpose and scope of its collection. Although this is a free and public library, its use is restricted to qualified scholars having legitimate research needs. Photographic techniques were developed at the Huntington Library…

  18. Biblioteca Publica en Huntington Beach (EE.UU.

    Directory of Open Access Journals (Sweden)

    Historico, Dion

    1977-07-01

    Full Text Available The first stage, which is the only one completed up to the present time, consists of a more extensive architectural complex conceived for housing different cultural functions besides the library: plastic arts, cinematography, scientific and informative activities, etc. The building is organized in two main floors in a rectangular shape, and in several mezzanines, reading rooms, book deposits, projection areas, music and painting departments and technical administration and maintenance offices, occupying a total of approximately 4,400 m2. The architectural design denotes the intention of integration in the treatment of the inside spaces, by the suppression of separate compartments, organizing the necessary distinction of functions in the reading rooms, by means of differences of floor levels and with the use of adequate decorative elements. In the same manner, the outside walls have been substituted by complete glass surfaces which allow full incorporation of the natural surroundings in the architecture.Constituye la primera fase, única realizada hasta el presente, de un complejo arquitectónico más amplio concebido para albergar distintas funciones culturales además de biblioteca: artes plásticas, cinematografía, actividades científicas e informativas, etc. El edificio se organiza en dos plantas principales, de forma rectangular, y en diversas entreplantas, salas de lectura, depósitos de libros, locales de proyección, departamentos de música y pintura, y oficinas técnicas de administración y mantenimiento, ocupando un total aproximado de 4.400 m2. El planteamiento arquitectónico denota un propósito integrador en el tratamiento de los espacios interiores, por la supresión de las compartimentaciones de fábrica, organizándose la necesaria distinción de ambientes en las salas de lectura, mediante diferencias de nivel del suelo y con el empleo de adecuados elementos decorativos. Del mismo modo, los muros de fachada se han sustituido por paramentos íntegramente acristalados, que permiten una plena incorporación del entorno natural en la arquitectura.

  19. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies.

  20. Beach Profile Locations

    Data.gov (United States)

    California Department of Resources — Beaches are commonly characterized by cross-shore surveys. The resulting profiles represent the elevation of the beach surface and nearshore seabed from the back of...

  1. Beach Profile Locations

    Data.gov (United States)

    California Department of Resources — Beaches are commonly characterized by cross-shore surveys. The resulting profiles represent the elevation of the beach surface and nearshore seabed from the back of...

  2. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  3. What is HD - Huntington's Disease?

    Science.gov (United States)

    ... the person less able to work at their customary level and less functional in their regular activities ... not is intensely personal and there is no "right" answer. The Huntington's Disease Society of America recommends ...

  4. Stages of Huntington's Disease (HD)

    Science.gov (United States)

    ... the person less able to work at their customary level and less functional in their regular activities ... not is intensely personal and there is no "right" answer. The Huntington's Disease Society of America recommends ...

  5. Natural history of Huntington disease.

    Science.gov (United States)

    Dorsey, E Ray; Beck, Christopher A; Darwin, Kristin; Nichols, Paige; Brocht, Alicia F D; Biglan, Kevin M; Shoulson, Ira

    2013-12-01

    Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials. To determine the longitudinal change in clinical features among individuals with Huntington disease compared with controls. Prospective, longitudinal cohort study at 44 research sites in Australia (n = 2), Canada (n =4), and the United States (n = 38). Three hundred thirty-four individuals with clinically manifest Huntington disease who had at least 3 years of annually accrued longitudinal data and 142 controls consisting of caregivers and spouses who had no genetic risk of Huntington disease. Change in movement, cognition, behavior, and function as measured by the Unified Huntington's Disease Rating Scale, the Mini-Mental State Examination, and vital signs. Total motor score worsened by 3.0 points (95% CI, 2.5-3.4) per year and chorea worsened by 0.3 point per year (95% CI, 0.1-0.5). Cognition declined by 0.7 point (95% CI, 0.6-0.8) per year on the Mini-Mental State Examination. Behavior, as measured by the product of frequency and severity score on the Unified Huntington's Disease Rating Scale, worsened by 0.6 point per year (95% CI, 0.0-1.2). Total functional capacity declined by 0.6 point per year (95% CI, 0.5-0.7). Compared with controls, baseline body mass index was lower in those with Huntington disease (25.8 vs 28.8; P Huntington disease all declined in a monotonic manner. These data quantify the natural history of the disease and may inform the design of trials aimed at reducing its burden. clinicaltrials.gov Identifier: NCT00313495.

  6. Huntington's disease in children.

    Science.gov (United States)

    Letort, Derek; Gonzalez-Alegre, Pedro

    2013-01-01

    Huntington's disease (HD) is a dominantly inherited, fatal neurodegenerative disease. This incurable illness is characterized by a triad of a movement disorder, cognitive decline and psychiatric manifestations. Although most patients with HD have disease onset in the adult years, a small but significant proportion present with pediatric HD. It has been long known that patients with early-onset HD commonly exhibit prominent parkinsonism, known as the Westphal variant of HD. However, even among patients with pediatric HD there are differential clinical features depending on the age of onset, with younger patients frequently presenting diagnostic challenges. In his chapter, the characteristics of patients with childhood- and adolescence-onset HD are discussed, focusing on the differential clinical features that can aid the clinical reach a correct diagnosis, the indications and rational use of genetic testing and the currently available options for symptomatic treatment.

  7. Depth-Dependent Earthquake Properties Beneath Long-Beach, CA: Implications for the Rheology at the Brittle-Ductile Transition Zone

    Science.gov (United States)

    Inbal, A.; Clayton, R. W.; Ampuero, J. P.

    2015-12-01

    Except for a few localities, seismicity along faults in southern California is generally confined to depths shallower than 15 km. Among faults hosting deep seismicity, the Newport-Inglewood Fault (NIF), which traverses the Los-Angeles basin, has an exceptionally mild surface expression and low deformation rates. Moreover, the NIF structure is not as well resolved as other, less well instrumented faults because of poor signal-to-noise ratio. Here we use data from three temporary dense seismic arrays, which were deployed for exploration purposes and contain up to several thousands of vertical geophones, to investigate the properties of deep seismicity beneath Long-Beach (LB), Compton and Santa-Fe Springs (SFS). The latter is located 15 km northeast of the NIF, presumably above a major detachment fault underthrusting the basin.Event detection is carried out using a new approach for microseismic multi-channel picking, in which downward-continued data are back-projected onto the volume beneath the arrays, and locations are derived from statistical analysis of back-projection images. Our technique reveals numerous, previously undetected events along the NIF, and confirms the presence of an active shallow structure gently dipping to the north beneath SFS. Seismicity characteristics vary along the NIF strike and dip. While LB seismicity is uncorrelated with the mapped trace of the NIF, Compton seismicity illuminates a sub-vertical fault that extends down to about 20 km. This result, along with the reported high flux of mantle Helium along the NIF (Boles et al., 2015), suggests that the NIF is deeply rooted and acts as a major conduit for mantle fluids. We find that the LB size distribution obeys the typical power-law at shallow depths, but falls off exponentially for events occurring below 20 km. Because deep seismicity occurs uniformly beneath LB, this transition is attributed to a reduction in seismic asperity density with increasing depth, consistent with a transition

  8. Nutrientes (K, P, Ca, Na, Mg e Fe em sedimentos (solos aluviais e cultivares (feijão e milho de praias e barrancos de rios de água branca: a bacia do purus no estado do Acre, Brasil Nutrients in sediment (alluvial soils and cultivates (bean and corn developed in beaches and cliffs found along loam water: the purus basin in state Acre, Brazil

    Directory of Open Access Journals (Sweden)

    Milta Mariane da Mata Martins

    2009-01-01

    Full Text Available The present research highlights the macronutrient abundance in the sediments of beaches and cliffs and cultivates in the river Purus and flowing, southwest of Amazon. The concentrations found in leaves and bean seeds and corn leaves reflect the mineralogical and chemical nature of those rich sediments in K2O and Na2O, which are formed by smectite, illite and K-feldspar. The factors of transfer of the elements in the corn leaves and bean (Ca>K>Na and bean seeds (Na>K>Ca demonstrate that the nutrient needs of the cultivate were found appropriately in the sediments (soils of the beaches and cliffs.

  9. Treatment of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel

    2014-01-01

    Huntington's disease (HD) is a dominantly inherited progressive neurological disease characterized by chorea, an involuntary brief movement that tends to flow between body regions. HD is typically diagnosed based on clinical findings in the setting of a family history and may be confirmed with genetic testing. Predictive testing is available to family members at risk, but only experienced clinicians should perform the counseling and testing. Multiple areas of the brain degenerate, mainly involving the neurotransmitters dopamine, glutamate, and γ-aminobutyric acid. Although pharmacotherapies theoretically target these neurotransmitters, few well-conducted trials for symptomatic interventions have yielded positive results and current treatments have focused on the motor aspects of HD. Tetrabenazine is a dopamine-depleting agent that may be one of the more effective agents for reducing chorea, although it has a risk of potentially serious adverse effects. Some newer neuroleptic agents, such as olanzapine and aripiprazole, may have adequate efficacy with a more favorable adverse effect profile than older neuroleptic agents for treating chorea and psychosis. There are no current treatments to change the course of HD, but education and symptomatic therapies can be effective tools for clinicians to use with patients and families affected by HD.

  10. Dopamine and Huntington's disease.

    Science.gov (United States)

    Schwab, Laetitia C; Garas, Shady N; Garas, Shaady N; Drouin-Ouellet, Janelle; Mason, Sarah L; Stott, Simon R; Barker, Roger A

    2015-04-01

    Huntington's disease (HD) is an incurable, inherited, progressive neurodegenerative disorder that is defined by a combination of motor, cognitive and psychiatric features. Pre-clinical and clinical studies have demonstrated an important role for the dopamine (DA) system in HD with dopaminergic dysfunction at the level of both DA release and DA receptors. It is, therefore, not surprising that the drug treatments most commonly used in HD are anti-dopaminergic agents. Their use is based primarily on the belief that the characteristic motor impairments are a result of overactivation of the central dopaminergic pathways. While this is a useful starting place, it is clear that the behavior of the central dopaminergic pathways is not fully understood in this condition and may change as a function of disease stage. In addition, how abnormalities in dopaminergic systems may underlie some of the non-motor features of HD has also been poorly investigated and this is especially important given the greater burden these place on the patients' and families' quality of life. In this review, we discuss what is known about central dopaminergic pathways in HD and how this informs us about the mechanisms of action of the dopaminergic therapies used to treat it. By doing so, we will highlight some of the paradoxes that exist and how solving them may reveal new insights for improved treatment of this currently incurable condition, including the possibility that such drugs may even have effects on disease progression and pathogenesis.

  11. Neuroimaging in Huntington's disease.

    Science.gov (United States)

    Niccolini, Flavia; Politis, Marios

    2014-06-28

    Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded trinucleotide CAG sequence in huntingtin gene (HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the disease and have also proved to be powerful in assessing disease progression. However, no single technique has been validated as an optimal biomarker. An integrative multimodal imaging approach, which combines different MRI and PET techniques, could be recommended for monitoring potential neuroprotective and preventive therapies in HD. In this article we review the current neuroimaging literature in HD.

  12. Erosion Negril Beach

    NARCIS (Netherlands)

    Ten Ham, D.; Henrotte, J.; Kraaijeveld, R.; Milosevic, M.; Smit, P.

    2006-01-01

    The ongoing erosion of the Negril Beach has become worse the past decade. In most places along the coast line, the beach will be gone in approximately 10 years. This will result in a major decrease of incomes that are made by the local tourist sector. To prevent the erosion this study has been perfo

  13. Huntington Disease in Asia

    Institute of Scientific and Technical Information of China (English)

    Miao Xu; Zhi-Ying Wu

    2015-01-01

    Objective:The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population.Data Sources:Data cited in this review were obtained from PubMed database and China National Knowledge Infrastructure (CNKI) from 1994 to 2014.All the papers were written in English or Chinese languages,with the terms of Asia/Asian,HD,genotype,epidemiology,phenotype,and treatment used for the literature search.Study Selection:From the PubMed database,we included the articles and reviews which contained the HD patients' data from Asian countries.From the CNKI,we excluded the papers which were not original research.Due to the language's restrictions,those data published in other languages were not included.Results:In total,50 papers were cited in this review,authors of which were from the mainland of China,Japan,India,Thailand,Taiwan (China),Korea,and western countries.Conclusions:The lower epidemiology in Asians can be partly explained by the less cytosine-adenine-guanine repeats,different haplotypes,and CCG polymorphisms.For the physicians,atypical clinical profiles such as the initial symptom of ataxia,movement abnormalities of Parkinsonism,dystonia,or tics need to be paid more attention to and suggest gene testing if necessary.Moreover,some pathogenesis studies may help progress some new advanced treatments.The clinicians in Asian especially in China should promote the usage of genetic testing and put more effects in rehabilitation,palliative care,and offer comfort of patients and their families.The unified HD rating scale also needs to be popularized in Asia to assist in evaluating the progression of HD.

  14. Louisiana's statewide beach cleanup

    Science.gov (United States)

    Lindstedt, Dianne M.; Holmes, Joseph C.

    1989-01-01

    Litter along Lousiana's beaches has become a well-recognized problem. In September 1987, Louisiana's first statewide beach cleanup attracted about 3300 volunteers who filled 16,000 bags with trash collected along 15 beaches. An estimated 800,173 items were gathered. Forty percent of the items were made of plastic and 11% were of polystyrene. Of all the litter collected, 37% was beverage-related. Litter from the oil and gas, commercial fishing, and maritime shipping industries was found, as well as that left by recreational users. Although beach cleanups temporarily rid Louisiana beaches of litter, the real value of the effort is in public participation and education. Civic groups, school children, and individuals have benefited by increasing their awareness of the problems of trash disposal.

  15. Mitochondrial dysfunction and Huntington disease

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Huntington disease (HD) is a chronic autosomal-dominant neurodegenerative disease. The gene coding Huntingtin has been identified, but the pathogenic mechanisms of the disease are still not fully understood. This paper reviews the involvement of mitochondrial dysfunction in pathogenesis of HD.

  16. Is Huntington's disease a tauopathy?

    Science.gov (United States)

    Gratuze, Maud; Cisbani, Giulia; Cicchetti, Francesca; Planel, Emmanuel

    2016-04-01

    Tauopathies are a subclass of neurodegenerative diseases typified by the deposition of abnormal microtubule-associated tau protein within the cerebral tissue. Alzheimer's disease, progressive supranuclear palsy, chronic traumatic encephalopathy and some fronto-temporal dementias are examples of the extended family of tauopathies. In the last decades, intermittent reports of cerebral tau pathology in individuals afflicted with Huntington's disease-an autosomal dominant neurodegenerative disorder that manifests by severe motor, cognitive and psychiatric problems in adulthood-have also begun to surface. These observations remained anecdotal until recently when a series of publications brought forward compelling evidence that this monogenic disorder may, too, be a tauopathy. Collectively, these studies reported that: (i) patients with Huntington's disease present aggregated tau inclusions within various structures of the brain; (ii) tau haplotype influences the cognitive function of Huntington's disease patients; and (iii) that the genetic product of the disease, the mutant huntingtin protein, could alter tau splicing, phosphorylation, oligomerization and subcellular localization. Here, we review the past and current evidence in favour of the postulate that Huntington's disease is a new member of the family of tauopathies. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Neurodegenerative disorders: Parkinson's disease and Huntington's disease

    Science.gov (United States)

    Hague, S; Klaffke, S; Bandmann, O

    2005-01-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease. PMID:16024878

  18. Neurodegenerative disorders: Parkinson's disease and Huntington's disease.

    Science.gov (United States)

    Hague, S M; Klaffke, S; Bandmann, O

    2005-08-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease.

  19. Huntington's disease presenting as amyotrophic lateral sclerosis.

    Science.gov (United States)

    Phukan, Julie; Ali, Elfatih; Pender, Niall P; Molloy, Fiona; Hennessy, Michael; Walsh, Ronan J; Hardiman, Orla

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington's disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington's disease. This case confirms the rare coexistence of Huntington's disease and motor neuron degeneration.

  20. National List of Beaches

    Data.gov (United States)

    U.S. Environmental Protection Agency — EPA has published a list of coastal recreation waters adjacent to beaches (or similar points of access) used by the public in the U.S. The list, required by the...

  1. Beach Ball Coronagraph Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The “Beach Ball” Coronagraph will be the first steps to simplify and revolutionize the next generation solar coronagraph design.  The solar corona...

  2. Huntington Disease: Molecular Diagnostics Approach.

    Science.gov (United States)

    Bastepe, Murat; Xin, Winnie

    2015-10-06

    Huntington disease (HD) is caused by expansion of a CAG trinucleotide repeat in the first exon of the Huntingtin (HTT) gene. Molecular testing of Huntington disease for diagnostic confirmation and disease prediction requires detection of the CAG repeat expansion. There are three main types of HD genetic testing: (1) diagnostic testing to confirm or rule out disease, (2) presymptomatic testing to determine whether an at-risk individual inherited the expanded allele, and (3) prenatal testing to determine whether the fetus has inherited the expanded allele. This unit includes protocols that describe the complementary use of polymerase chain reactions (PCR) and Southern blot hybridization to accurately measure the CAG trinucleotide repeat size and interpret the test results. In addition, an indirect linkage analysis that does not reveal the unwanted parental HD status in a prenatal testing will also be discussed.

  3. Cortical myoclonus in Huntington's disease.

    Science.gov (United States)

    Thompson, P D; Bhatia, K P; Brown, P; Davis, M B; Pires, M; Quinn, N P; Luthert, P; Honovar, M; O'Brien, M D; Marsden, C D

    1994-11-01

    We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.

  4. Molecular Imaging of Huntington's Disease.

    Science.gov (United States)

    Ciarmiello, Andrea; Giovacchini, Giampiero; Giovannini, Elisabetta; Lazzeri, Patrizia; Borsò, Elisa; Mannironi, Antonio; Mansi, Luigi

    2017-08-01

    The onset and the clinical progression of Huntington Disease (HD) is influenced by several events prompted by a genetic mutation that affects several organs tissues including different regions of the brain. In the last decades years, Positron Emission Tomography (PET) and Magnetic Resonance Imaging (MRI) helped to deepen the knowledge of neurodegenerative mechanisms that guide to clinical symptoms. Brain imaging with PET represents a tool to investigate the physiopathology occurring in the brain and it has been used to predict the age of onset of the disease and to evaluate the therapeutic efficacy of new drugs. This article reviews the contribution of PET and MRI in the research field on Huntington's disease, focusing in particular on some most relevant achievements that have helped recognize the molecular changes, the clinical symptoms and evolution of the disease. J. Cell. Physiol. 232: 1988-1993, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Antipsychotic drugs in Huntington's disease.

    Science.gov (United States)

    Unti, E; Mazzucchi, S; Palermo, G; Bonuccelli, U; Ceravolo, R

    2017-03-01

    The aim of this review is to overview the pharmacological features of neuroleptics experienced in the treatment of Huntington's disease (HD) symptoms. Despite a large number of case reports, randomized controlled trials (RCT) and drug comparison studies are lacking. Areas covered: After evaluating current guidelines and clinical unmet needs we searched PubMed for the term 'Huntington's disease' cross referenced with the terms 'Antipsychotic drugs' 'Neuroleptic drugs' and single drug specific names. Expert commentary: In clinical practice antipsychotics represent the first choice in the management of chorea in the presence of psychiatric symptoms, when poor compliance is suspected or when there is an increased risk of adverse events due to tetrabenazine. Antipsychotics are considered valid strategies, with the second generation preferred to reduce extrapyramidal adverse events, however they may cause more metabolic side effects. In the future 'dopamine stabilizers', such as pridopidine, could replace antipsychotics modulating dopamine transmission.

  6. Morphodynamic characterization of the Spanish beaches of the Gulf of Cadiz

    Energy Technology Data Exchange (ETDEWEB)

    Benavente, J.; Gracia, F. J.; Rio, L. del; Anfuso, G.; Rodriguez-Ramirez, A.

    2015-07-01

    During the1980s several attempts were made to classify beaches according to their morphodynamic behav- iour. Published papers proposed classifications based mainly on wave incident energy and beach character- istics, such as foreshore slopes and sediment settling velocities. In the 1990s more complex classifications appeared, where the effect of tides on wave action was included, highlighting their relevance to the determi- nation of the morphodynamic state of the beach. In this paper we present a beach monitoring programme, in which more than 30 beaches located along the Spanish shores of the Gulf of Cadiz and the Strait of Gibraltar were surveyed for four years (2000-2004). The long study period allowed the monitoring of beach morphologies related both to fair weather (summer) and storm (winter) conditions. The coastal setting in the study area provided the opportunity for covering a wide range of tidal conditions, from high mesotidal (MSTR ca. 4 m) to microtidal (MSTR around 1 m). Furthermore, the dimensions of the study area permitted the mon- itoring of beaches linked to different boundary conditions, thus including both attached and detached beach- es located at varying distances from main sediment sources, and influenced by different wave regimes. The analysis of the beach morphologies related to such contrasting conditions allowed the identification of the real significance of the tidal effect on beach profile morphology and hence on beach morphodynamics. Finally, we conclude that the effect of tides on wave action is the main factor determining beach morphody- namic behaviour. (Author)

  7. Neuropsychiatric Burden in Huntington's Disease.

    Science.gov (United States)

    Paoli, Ricardo Augusto; Botturi, Andrea; Ciammola, Andrea; Silani, Vincenzo; Prunas, Cecilia; Lucchiari, Claudio; Zugno, Elisa; Caletti, Elisabetta

    2017-06-16

    Huntington's disease is a disorder that results in motor, cognitive, and psychiatric problems. The symptoms often take different forms and the presence of disturbances of the psychic sphere reduces patients' autonomy and quality of life, also impacting patients' social life. It is estimated that a prevalence between 33% and 76% of the main psychiatric syndromes may arise in different phases of the disease, often in atypical form, even 20 years before the onset of chorea and dementia. We present a narrative review of the literature describing the main psychopathological patterns that may be found in Huntington's disease, searching for a related article in the main database sources (Medline, ISI Web of Knowledge, Scopus, and Medscape). Psychiatric conditions were classified into two main categories: affective and nonaffective disorders/symptoms; and anxiety and neuropsychiatric features such as apathy and irritability. Though the literature is extensive, it is not always convergent, probably due to the high heterogeneity of methods used. We summarize main papers for pathology and sample size, in order to present a synoptic vision of the argument. Since the association between Huntington's disease and psychiatric symptoms was demonstrated, we argue that the prevalent and more invalidating psychiatric components should be recognized as early as possible during the disease course in order to best address psychopharmacological therapy, improve quality of life, and also reduce burden on caregivers.

  8. Huntington's disease: review and anesthetic case management.

    OpenAIRE

    Cangemi, C. F.; Miller, R. J.

    1998-01-01

    Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depress...

  9. Drug-induced hyperthermia in Huntington's disease

    NARCIS (Netherlands)

    Gaasbeek, D; Naarding, Paul; Stor, T; Kremer, H P H

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic

  10. Drug-induced hyperthermia in Huntington's disease.

    NARCIS (Netherlands)

    Gaasbeek, D.; Naarding, P.; Stor, T.; Kremer, H.P.H.

    2004-01-01

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic

  11. Drug-induced hyperthermia in Huntington's disease.

    NARCIS (Netherlands)

    Gaasbeek, D.; Naarding, P.; Stor, T.; Kremer, H.P.H.

    2004-01-01

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic m

  12. Apathy is not depression in Huntington's disease

    NARCIS (Netherlands)

    Naarding, Paul; Janzing, Joost G E; Eling, Paul; van der Werf, Sieberen; Kremer, Berry

    2009-01-01

    Apathy and depression are common neuropsychiatric features of Huntington's disease. The authors studied a group of 34 Huntington's disease patients. In addition to the conventional classification according to DSM-IV criteria of depression, emphasis was put on a dimensional approach using scores on

  13. Hawaii Beach Monitoring Program: Beach Profile Data

    Science.gov (United States)

    Gibbs, Ann E.; Richmond, Bruce M.; Fletcher, Charles H.; Hillman, Kindra P.

    2001-01-01

    Coastal erosion is widespread and locally severe in Hawaii and other low-latitude areas. Typical erosion rates in Hawaii are in the range of 15 to 30 cm/yr (0.5 to 1 ft/yr; Hwang, 1981; Sea Engineering, Inc., 1988; Makai Ocean Engineering, Inc. and Sea Engineering, Inc.,1991). Recent studies on Oahu (Fletcher et al., 1997; Coyne et al., 1996) have shown that nearly 24%, or 27.5 km (17.1 mi) of an original 115 km (71.6 mi) of sandy shoreline (1940's) has been either significantly narrowed (17.2 km; 10.7 mi) or lost (10.3 km; 6.4 mi). Nearly one-quarter of the islands' beaches have been significantly degraded over the last half-century and all shorelines have been affected to some degree. Oahu shorelines are by far the most studied, however, beach loss has been identified on the other islands as well, with nearly 13 km (8 mi) of beach likely lost due to shoreline hardening on Maui (Makai Engineering, Inc. and Sea Engineering, Inc., 1991). Causes of coastal erosion and beach loss in Hawaii are numerous but, unfortunately, poorly understood and rarely quantified. Construction of shoreline protection structures limits coastal land loss, but does not alleviate beach loss and may actually accelerate the problem by prohibiting sediment deposition in front of the structures. Other factors contributing to beach loss include: a) reduced sediment supply; b) large storms; and, c) sea-level rise. Reduction in sand supply, either from landward or seaward (primarily reef) sources, can have a myriad of causes. Obvious causes such as beach sand mining and emplacement of structures that interrupt natural sediment transport pathways or prevent access to backbeach sand deposits, remove sediment from the active littoral system. More complex issues of sediment supply can be related to reef health and carbonate production which, in turn, may be linked to changes in water quality. Second, the accumulated effect of large storms is to transport sediment beyond the littoral system. Third

  14. Huntington's disease: clinical characteristics, pathogenesis and therapies.

    Science.gov (United States)

    Nakamura, Ken; Aminoff, Michael J

    2007-02-01

    Huntington's disease is a devastating disorder with no known cure. The disease results from an expanded sequence of CAG repeats in the huntingtin gene and leads to a movement disorder with associated cognitive and systemic deficits. Huntington's disease is diagnosed by genetic testing and disease progression can be followed with a variety of imaging modalities. The accumulation of aggregated huntingtin with associated striatal degeneration is evident at autopsy. The pathophysiology of Huntington's disease remains unknown, although protein aggregation, excitotoxicity, deficits in energy metabolism, transcriptional dysregulation and apoptosis may all be involved. Current pharmacologic therapy for Huntington's disease is limited and exclusively symptomatic. However, the disease is being heavily researched, and a wide range of disease-modifying therapies is currently under development. The efficacy of these therapies is being evaluated in transgenic models of Huntington's disease and in preliminary clinical trials.

  15. Sand supply to beaches

    Science.gov (United States)

    Aagaard, Troels

    2017-04-01

    In most cases, beaches and dunes are built by sand that has been transported onshore from the shoreface. While this has been known for a long time, we are still not able to quantitatively predict onshore sediment transport and sand supply to beaches. Sediment transport processes operating during brief, high-energy stormy conditions - when beaches erode and sand moves offshore - are fairly well known and they can be modelled with a reasonable degree of confidence. However, the slower onshore sand transport leading to beach recovery under low-to-moderate energy conditions - and the reason why beaches and dunes exist in the first place - is not yet well understood. This severely limits our capability to understand and predict coastal behaviour on long time scales, for example in response to changing sea level or wave conditions. This paper will discuss issues and recent developments in sediment transport measurement and prediction on the lower and upper shoreface and into the swash zone. The focus will be on the integration and upscaling of small-scale deterministic process measurements into parametric models that may increase modelling capabilities of coastal behaviour on larger temporal and spatial scales.

  16. Beach rock from Goa Coast

    Digital Repository Service at National Institute of Oceanography (India)

    Setty, M.G.A.P.; Wagle, B.G.

    temperature under the beach and inland. However, the thickness depends upon variabilities of precipitation, hinterland, water table fluctuations, temperature changes, composition and changes in sea level. Since the beach rock is formed in the tidal or spray...

  17. Summary of Annual Beach Notifications

    Data.gov (United States)

    U.S. Environmental Protection Agency — To help beachgoers make informed decisions about swimming at U.S. beaches, EPA gathers state-by-state data about beach closings and advisories. Between 1999 and...

  18. Virtual Beach 3: User's Guide

    Science.gov (United States)

    Virtual Beach version 3 (VB3) is a decision support tool that constructs site-specific statistical models to predict fecal indicator bacteria (FIB) concentrations at recreational beaches. VB3 is primarily designed for beach managers responsible for making decisions regarding beac...

  19. Huntington's Disease: An Immune Perspective

    Directory of Open Access Journals (Sweden)

    Annapurna Nayak

    2011-01-01

    Full Text Available Huntington's disease (HD is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide repeats. Neuroinflammation is a typical feature of most neurodegenerative diseases that leads to an array of pathological changes within the affected areas in the brain. The neurodegeneration in HD is also caused by aberrant immune response in the presence of aggregated mutant huntingtin protein. The effects of immune activation in HD nervous system are a relatively unexplored area of research. This paper summarises immunological features associated with development and progression of HD.

  20. Huntington disease: pathogenesis and treatment.

    Science.gov (United States)

    Dayalu, Praveen; Albin, Roger L

    2015-02-01

    Huntington disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, culminating in death. It is caused by an expanded CAG repeat in the huntingtin gene. Even years before symptoms become overt, mutation carriers show subtle but progressive striatal and cerebral white matter atrophy by volumetric MRI. Although there is currently no direct treatment of HD, management options are available for several symptoms. A better understanding of HD pathogenesis, and more sophisticated clinical trials using newer biomarkers, may lead to meaningful treatments. This article reviews the current knowledge of HD pathogenesis and treatment.

  1. Psychiatric symptoms and CAG expansion in Huntington`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Weber, M.W.; Schmid, W.; Spiegel, R. [Univ. of Zuerich (Switzerland)

    1996-02-16

    The mutation responsible for Huntington`s disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inverse correlation between CAG copy number and age at disease onset has been found in a large number of affected individuals. The influence of the CAG repeat expansion on other phenotypic manifestations, especially specific psychiatric symptoms has not been studied intensively. In order to elucidate this situation we investigated the relation between CAG copy number and distinct psychiatric phenotypes found in 79 HD-patients. None of the four differentiated categories (personality change, psychosis, depression, and nonspecific alterations) showed significant differences in respect to size of the CAG expansion. In addition, no influence of individual sex on psychiatric presentation could be found. On the other hand in patients with personality changes maternal transmission was significantly more frequent compared with all other groups. Therefore we suggest that clinical severity of psychiatric features in HD is not directly dependent on the size of the dynamic mutation involved. The complex pathogenetic mechanisms leading to psychiatric alterations are still unknown and thus genotyping does not provide information about expected psychiatric symptoms in HD gene carriers. 40 refs., 1 fig., 2 tabs.

  2. [Molecular therapeutic strategies for Huntington's disease].

    Science.gov (United States)

    Milewski, Michał; Hoffman-Zacharska, Dorota; Ball, Jerzy

    2015-01-01

    Huntington's disease is a progressive neurodegenerative disorder of genetic origin that still lacks an effective treatment. Recently, a number of new attempts have been undertaken to develop a successful molecular therapy for this incurable condition. The novel approaches employ, among others, some new methods to selectively silence the mutated gene or to neutralize its toxic protein product. This paper reviews all major strategies that are currently considered for molecular therapy of Huntington's disease while discussing their potential effectiveness regarding the treatment of both the Huntington's disease and a large group of related neurodegenerative disorders associated with abnormal protein aggregation.

  3. Coastal Land Air Sea Interaction: "the" beach towers

    Science.gov (United States)

    MacMahan, J. H.; Koscinski, J. S.; Ortiz-Suslow, D. G.; Haus, B. K.; Thornton, E. B.

    2016-12-01

    As part of the Coastal Land Air Sea Interaction (CLASI) experiment, an alongshore array of 6-m high towers instrumented with ultrasonic 3D anemometers and temperature-relative humidity sensors were deployed at five sandy beaches near the high-tide line in Monterey Bay, CA, in May-June 2016. A cross-shore array of towers was also deployed from within the active surfzone to the toe of the dune at one beach. In addition, waves and ocean temperature were obtained along the 10m isobath for each beach. The dissipative surfzone was O(80m) wide. The wave energy varies among the beaches owing to sheltering and refraction by the Monterey Canyon and headlands. The tides are semi-diurnal mixed, meso-tidal with a maximum tidal range of 2m. This results in a variable beach width from the tower to the tidal line. Footprint analysis for estimating the source region for the turbulent momentum fluxes, suggests that the observations represent three scenarios described as primarily ocean, mixed beach and ocean, and primarily beach. The direct-estimate of the atmospheric stability by the sonic anemometer suggest that all of the beaches are mostly unstable except for a few occurrences in the evening during low wind conditions. The onshore neutral drag coefficient (Cd) estimated at 10m heights is 3-5 times larger than open ocean estimates. Minimal variability was found in Cd based on the footprint analysis. Beach-specific spatial variability in Cd was found related to atmospheric stability and wave energy.

  4. Genetic modifiers of Huntington's disease.

    Science.gov (United States)

    Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

    2014-09-15

    Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.

  5. Huntington's disease: review and anesthetic case management.

    Science.gov (United States)

    Cangemi, C F; Miller, R J

    1998-01-01

    Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depression, and apathy leads to cachexia. Factors of considerable concern to the anesthesiologist who treats patients with Huntington's disease may include how to treat frail elderly people incapable of cooperation, how to treat patients suffering from malnourishment, and how to treat patients with an increased risk for aspiration or exaggerated responses to sodium thiopental and succinylcholine. The successful anesthetic management of a 65-yr-old woman with Huntington's disease who presented for full-mouth extractions is described.

  6. Huntington's Disease: Speech, Language and Swallowing

    Science.gov (United States)

    ... Disease Society of America Huntington's Disease Youth Organization Movement Disorder Society National Institute of Neurological Disorders and Stroke Typical Speech and Language Development Learning More Than One Language Adult Speech and Language Child Speech and Language Swallowing ...

  7. Impaired mitochondrial trafficking in Huntington's disease

    OpenAIRE

    Li, Xiao-Jiang; Orr, Adam L.; Li, Shihua

    2009-01-01

    Abstract Impaired mitochondrial function has been well documented in Huntington?s disease. Mutant huntingtin is found to affect mitochondria via various mechanisms including the dysregulation of gene transcription and impairment of mitochondrial function or trafficking. The lengthy and highly branched neuronal processes constitute complex neural networks in which there is a large demand for mitochondria-generated energy. Thus, the impaired mitochondria trafficking in neuronal cells...

  8. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  9. Ethical issues and Huntington's disease.

    Science.gov (United States)

    Kromberg, Jennifer G R; Wessels, Tina-Marié

    2013-10-11

    The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one twin sought predictive testing for this dominantly inherited disease, created several ethical dilemmas. Another case where predictive testing was carried out on two young children, at high risk, by a laboratory at the request of an adoption agency and a doctor, with a view to giving information to the foster parents, also posed many ethical conundrums for the counsellor. The ethical issues that arose in these cases are discussed in this paper. 

  10. Cholesterol metabolism in Huntington disease.

    Science.gov (United States)

    Karasinska, Joanna M; Hayden, Michael R

    2011-09-06

    The CNS is rich in cholesterol, which is essential for neuronal development and survival, synapse maturation, and optimal synaptic activity. Alterations in brain cholesterol homeostasis are linked to neurodegeneration. Studies have demonstrated that Huntington disease (HD), a progressive and fatal neurodegenerative disorder resulting from polyglutamine expansion in the huntingtin protein, is associated with changes in cellular cholesterol metabolism. Emerging evidence from human and animal studies indicates that attenuated brain sterol synthesis and accumulation of cholesterol in neuronal membranes represent two distinct mechanisms occurring in the presence of mutant huntingtin that influence neuronal survival. Increased knowledge of how changes in intraneuronal cholesterol metabolism influence the pathogenesis of HD will provide insights into the potential application of brain cholesterol regulation as a therapeutic strategy for this devastating disease.

  11. Juvenile Huntington disease in Argentina.

    Science.gov (United States)

    Gatto, Emilia Mabel; Parisi, Virginia; Etcheverry, José Luis; Sanguinetti, Ana; Cordi, Lorena; Binelli, Adrian; Persi, Gabriel; Squitieri, Ferdinando

    2016-01-01

    We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

  12. Language impairment in Huntington's disease.

    Science.gov (United States)

    Azambuja, Mariana Jardim; Radanovic, Marcia; Haddad, Mônica Santoro; Adda, Carla Cristina; Barbosa, Egberto Reis; Mansur, Letícia Lessa

    2012-06-01

    Language alterations in Huntington's disease (HD) are reported, but their nature and correlation with other cognitive impairments are still under investigation. This study aimed to characterize the language disturbances in HD and to correlate them to motor and cognitive aspects of the disease. We studied 23 HD patients and 23 controls, matched for age and schooling, using the Boston Diagnostic Aphasia Examination, Boston Naming Test, the Token Test, Animal fluency, Action fluency, FAS-COWA, the Symbol Digit Modalities Test, the Stroop Test and the Hooper Visual Organization Test (HVOT). HD patients performed poorer in verbal fluency (poral comprehension (preading comprehension (p=0.034) and narrative writing (p<0.0001). There was a moderate correlation between the Expressive Component and Language Competency Indexes and the HVOT (r=0.519, p=0.011 and r=0.450, p=0.031, respectively). Language alterations in HD seem to reflect a derangement in both frontostriatal and frontotemporal regions.

  13. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  14. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    DEFF Research Database (Denmark)

    Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty

    2011-01-01

    Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original...

  15. Sand hazards on tourist beaches.

    Science.gov (United States)

    Heggie, Travis W

    2013-01-01

    Visiting the beach is a popular tourist activity worldwide. Unfortunately, the beach environment is abundant with hazards and potential danger to the unsuspecting tourist. While the traditional focus of beach safety has been water safety oriented, there is growing concern about the risks posed by the sand environment on beaches. This study reports on the death and near death experience of eight tourists in the collapse of sand holes, sand dunes, and sand tunnels. Each incident occurred suddenly and the complete burial in sand directly contributed to the victims injury or death in each case report.

  16. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    OpenAIRE

    Metz, Gerlinde A.; Whishaw, Ian Q.; Afra Foroud; Nafisa M Jadavji

    2006-01-01

    In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt). Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They inc...

  17. Exercise effects in Huntington disease.

    Science.gov (United States)

    Frese, Sebastian; Petersen, Jens A; Ligon-Auer, Maria; Mueller, Sandro Manuel; Mihaylova, Violeta; Gehrig, Saskia M; Kana, Veronika; Rushing, Elisabeth J; Unterburger, Evelyn; Kägi, Georg; Burgunder, Jean-Marc; Toigo, Marco; Jung, Hans H

    2017-01-01

    Huntington disease (HD) is a relentlessly progressive neurodegenerative disorder with symptoms across a wide range of neurological domains, including cognitive and motor dysfunction. There is still no causative treatment for HD but environmental factors such as passive lifestyle may modulate disease onset and progression. In humans, multidisciplinary rehabilitation has a positive impact on cognitive functions. However, a specific role for exercise as a component of an environmental enrichment effect has been difficult to demonstrate. We aimed at investigating whether endurance training (ET) stabilizes the progression of motor and cognitive dysfunction and ameliorates cardiovascular function in HD patients. Twelve male HD patients (mean ± SD, 54.8 ± 7.1 years) and twelve male controls (49.1 ± 6.8 years) completed 26 weeks of endurance training. Before and after the training intervention, clinical assessments, exercise physiological tests, and a body composition measurement were conducted and a muscle biopsy was taken from M. vastus lateralis. To examine the natural course of the disease, HD patients were additionally assessed 6 months prior to ET. During the ET period, there was a motor deficit stabilization as indicated by the Unified Huntington's Disease Rating Scale motor section score in HD patients (baseline: 18.6 ± 9.2, pre-training: 26.0 ± 13.7, post-training: 26.8 ± 16.4). Peak oxygen uptake ([Formula: see text]) significantly increased in HD patients (∆[Formula: see text] = +0.33 ± 0.28 l) and controls (∆[Formula: see text] = +0.29 ± 0.41 l). No adverse effects of the training intervention were reported. Our results confirm that HD patients are amenable to a specific exercise-induced therapeutic strategy indicated by an increased cardiovascular function and a stabilization of motor function.

  18. Pleistocene and holocene beaches and estuaries along the Southern Barrier of Buenos Aires, Argentina

    Science.gov (United States)

    Isla, Federico I.; Cortizo, Luis C.; Schnack, Enrique J.

    The Buenos Aires aggradation plain has a good record of Quaternary sea-level fluctuations. To the east of the Tandilia Range, the elevations of the Pleistocene beaches respond to the tectonic behaviour of the Salado Basin. Holocene beaches indicate a maximum transgression higher than 2 m. The low relief permitted an extended horizontal record of beach/chenier plains interfingered with estuarine environments (coastal lagoons, marshes) covered by a sandy (Eastern) barrier. Between the Tandilia and Ventania ranges, the location of Pleistocene and Holocene beaches are related to a former higher relief; i.e. they are attached to low-altitude cliffs and underneath cliff-top dunes composing the Southern Barrier. At Claromecó, Pleistocene gravel beaches, mostly composed of caliche pebbles, occur at heights between 4 and 7 m, and are overlying estuarine Pleistocene environments. Beaches of the same age are at a level of 10 m at Mar del Plata Harbour and Arroyo Sotelo (west of Mar Chiquita Lagoon). Holocene beaches found at Punta Mogotes and Costa Bonita are at higher altitudes than on the Eastern Barrier (ca. 2-4 m). The Holocene estuarine sequences are related laterally to present operating inlets (Las Brusquitas, La Ballenera, Quequén Grande, Claromecó, Quequén Salado). They are seldon thicker than 2.4 m, and comprise basal layers of black muds; towards the top, the layers are thinner, of coarser grain size and white colours. Grain-size analyses were performed comparatively on Pleistocene, mid-Holocene and present beaches. Sangamonian beaches aregravelly or coarser than medium sand (mean). Holocene beaches are usually coarser than medium sand, but dominantly shelly to the north of Mar del Plata, and composed of volcanic clasts to the south of this city. Modern beaches are dominated by fine sand, except at some erosive beaches between the Mar del Plata capes. They have a lesser content of shells than those of mid-Holocene.

  19. Biochemical aspects of Huntington's chorea.

    Science.gov (United States)

    Caraceni, T; Calderini, G; Consolazione, A; Riva, E; Algeri, S; Girotti, F; Spreafico, R; Branciforti, A; Dall'olio, A; Morselli, P L

    1977-01-01

    Fifteen patients affected by Huntington's chorea were divided into two groups, 'slow' and 'fast', according to IQ scores on the Wechsler-Bellevue scale, and scores on some motor performance tests. A possible correlation was looked for between some biochemical data (cerebrospinal fluid (CSF), homovanillic acid (HVA), and 5-hydroxyindolacetic acid (5HIAA) levels, plasma dopamine-beta-hydroxylase (DBH), dopamine (DA) uptake by platelets), and clinical data (duration of illness, severity of symptoms, age of patients, IQ scores, 'slow' and 'fast' groups). The CSF, HVA, and 5HIAA levels were found to be significantly lowered in comparison with normal controls. DBH activity and DA uptake by platelets did not differ significantly from normal subjects. Treatment with haloperidol in all patients and with dipropylacetic acid in three patients did not appear to modify the CSF, HVA, and 5HIAA concentrations, the plasma DBH activity, or the DA uptake. There were no significant differences in the CSF, HVA, and 5HIAA contents between the two groups of patients, and there was no correlation between biochemical data and clinical features. PMID:143508

  20. Protein oxidation in Huntington disease.

    Science.gov (United States)

    Sorolla, M Alba; Rodríguez-Colman, María José; Vall-llaura, Núria; Tamarit, Jordi; Ros, Joaquim; Cabiscol, Elisa

    2012-01-01

    Huntington disease (HD) is an inherited neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene, affecting initially the striatum and progressively the cortex. Oxidative stress, and consequent protein oxidation, has been described as important to disease progression. This review focuses on recent advances in the field, with a particular emphasis on the identified target proteins and the role that their oxidation has or might have in the pathophysiology of HD. Oxidation and the resulting inactivation and/or degradation of important proteins can explain the impairment of several metabolic pathways in HD. Oxidation of enzymes involved in ATP synthesis can account for the energy deficiency observed. Impairment of protein folding and degradation can be due to oxidation of several heat shock proteins and Valosin-containing protein. Oxidation of two enzymes involved in the vitamin B6 metabolism could result in decreased availability of pyridoxal phosphate, which is a necessary cofactor in transaminations, the kynurenine pathway and the synthesis of glutathione, GABA, dopamine and serotonin, all of which have a key role in HD pathology. In addition, protein oxidation often contributes to oxidative stress, aggravating the molecular damage inside the cell. Copyright © 2012 International Union of Biochemistry and Molecular Biology, Inc.

  1. Error processing in Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Christian Beste

    Full Text Available BACKGROUND: Huntington's disease (HD is a genetic disorder expressed by a degeneration of the basal ganglia inter alia accompanied with dopaminergic alterations. These dopaminergic alterations are related to genetic factors i.e., CAG-repeat expansion. The error (related negativity (Ne/ERN, a cognitive event-related potential related to performance monitoring, is generated in the anterior cingulate cortex (ACC and supposed to depend on the dopaminergic system. The Ne is reduced in Parkinson's Disease (PD. Due to a dopaminergic deficit in HD, a reduction of the Ne is also likely. Furthermore it is assumed that movement dysfunction emerges as a consequence of dysfunctional error-feedback processing. Since dopaminergic alterations are related to the CAG-repeat, a Ne reduction may furthermore also be related to the genetic disease load. METHODOLOGY/PRINCIPLE FINDINGS: We assessed the error negativity (Ne in a speeded reaction task under consideration of the underlying genetic abnormalities. HD patients showed a specific reduction in the Ne, which suggests impaired error processing in these patients. Furthermore, the Ne was closely related to CAG-repeat expansion. CONCLUSIONS/SIGNIFICANCE: The reduction of the Ne is likely to be an effect of the dopaminergic pathology. The result resembles findings in Parkinson's Disease. As such the Ne might be a measure for the integrity of striatal dopaminergic output function. The relation to the CAG-repeat expansion indicates that the Ne could serve as a gene-associated "cognitive" biomarker in HD.

  2. Predictive testing for Huntington's disease.

    Science.gov (United States)

    Tibben, Aad

    2007-04-30

    Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.

  3. Huntington's Disease and Striatal Signaling.

    Science.gov (United States)

    Roze, Emmanuel; Cahill, Emma; Martin, Elodie; Bonnet, Cecilia; Vanhoutte, Peter; Betuing, Sandrine; Caboche, Jocelyne

    2011-01-01

    Huntington's Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment, and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT), impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction, and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.

  4. Therapeutic advances in Huntington's Disease.

    Science.gov (United States)

    Shannon, Kathleen M; Fraint, Avram

    2015-09-15

    Huntington's disease is a rare hereditary degenerative disease with a wide variety of symptoms that encompass movement, cognition, and behavior. The genetic mutation that causes the disease has been known for more than 20 y, and animal models have illuminated a host of intracellular derangements that occur downstream of protein translation. A number of clinical trials targeting these metabolic consequences have failed to produce a single effective therapy, although clinical trials continue. New strategies targeting the protein at the level of transcription, translation, and posttranslational modification and aggregation engender new hope that a successful strategy will emerge, but there is much work ahead. Some of the clinical manifestations of the illness, particularly chorea, affective symptoms, and irritability, are amenable to palliative strategies, but physicians have a poor evidence base on which to select the best agents. Clinical trials since 2013 have dashed hopes that coenzyme Q10 or creatine might have disease-modifying properties but suggested other agents were safe or hinted at efficacy (cysteamine, selisistat, hydroxyquinoline) and could proceed into later-stage disease modification trials. The hunt for effective symptom relief suggested that pridopidine might be shown effective given the right outcome measure. This review summarizes recent progress in HD and highlights promising new strategies for slowing disease progression and relieving suffering in HD. © 2015 International Parkinson and Movement Disorder Society.

  5. Huntington's disease: a clinical review.

    Science.gov (United States)

    McColgan, Peter; Tabrizi, Sarah J

    2017-08-17

    Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100,000. It is characterised by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein. Early macroscopic changes are seen in the striatum with involvement of the cortex as the disease progresses. There are currently no disease modifying treatments therefore supportive and symptomatic management is the mainstay of treatment. In recent years there have been significant advances in understanding both the cellular pathology and the macroscopic structural brain changes that occur as the disease progresses. In the last decade there has been a large growth in potential therapeutic targets and clinical trials. Perhaps the most promising of these are the emerging therapies aimed at lowering levels of mutant huntingtin. Antisense oligonucleotide therapy is one such approach with clinical trials currently underway. This may bring us one step closer to treating and potentially preventing this devastating condition. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  6. Movement sequencing in Huntington disease.

    Science.gov (United States)

    Georgiou-Karistianis, Nellie; Long, Jeffrey D; Lourens, Spencer G; Stout, Julie C; Mills, James A; Paulsen, Jane S

    2014-08-01

    To examine longitudinal changes in movement sequencing in prodromal Huntington's disease (HD) participants (795 prodromal HD; 225 controls) from the PREDICT-HD study. Prodromal HD participants were tested over seven annual visits and were stratified into three groups (low, medium, high) based on their CAG-Age Product (CAP) score, which indicates likely increasing proximity to diagnosis. A cued movement sequence task assessed the impact of advance cueing on response initiation and execution via three levels of advance information. Compared to controls, all CAP groups showed longer initiation and movement times across all conditions at baseline, demonstrating a disease gradient for the majority of outcomes. Across all conditions, the high CAP group had the highest mean for baseline testing, but also demonstrated an increase in movement time across the study. For initiation time, the high CAP group showed the highest mean baseline time across all conditions, but also faster decreasing rates of change over time. With progress to diagnosis, participants may increasingly use compensatory strategies, as evidenced by faster initiation. However, this occurred in conjunction with slowed execution times, suggesting a decline in effectively accessing control processes required to translate movement into effective execution.

  7. Language impairment in Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Jardim Azambuja

    2012-06-01

    Full Text Available Language alterations in Huntington's disease (HD are reported, but their nature and correlation with other cognitive impairments are still under investigation. This study aimed to characterize the language disturbances in HD and to correlate them to motor and cognitive aspects of the disease. We studied 23 HD patients and 23 controls, matched for age and schooling, using the Boston Diagnostic Aphasia Examination, Boston Naming Test, the Token Test, Animal fluency, Action fluency, FAS-COWA, the Symbol Digit Modalities Test, the Stroop Test and the Hooper Visual Organization Test (HVOT. HD patients performed poorer in verbal fluency (p<0.0001, oral comprehension (p<0.0001, repetition (p<0.0001, oral agility (p<0.0001, reading comprehension (p=0.034 and narrative writing (p<0.0001. There was a moderate correlation between the Expressive Component and Language Competency Indexes and the HVOT (r=0.519, p=0.011 and r=0.450, p=0.031, respectively. Language alterations in HD seem to reflect a derangement in both frontostriatal and frontotemporal regions.

  8. Mapping energy poverty in Huntington, West Virginia

    Science.gov (United States)

    Callicoat, Elizabeth Anne

    Energy poverty is a growing phenomenon culminating from the combination of low to mid household income, deteriorating housing structures and rising household energy costs. Energy prices are increasing for all households, but the burden is proportionally larger for those with low to mid income. These groups must sacrifice to afford energy, and are often unable or do not have the autonomy to make structural improvements, especially if they rent their home. Data on residential dwellings from the Cabell County Tax Assessor's Office was used within a geographic information system to map where energy poverty likely exists within the city limits of Huntington, WV. It was found that one fifth of Huntington households are at a high risk of energy poverty, primarily located across the northern section of the city and in the center, surrounding Marshall University, Downtown and Cabell Huntington Hospital.

  9. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  10. Development of biomarkers for Huntington's disease.

    Science.gov (United States)

    Weir, David W; Sturrock, Aaron; Leavitt, Blair R

    2011-06-01

    Huntington's disease is an autosomal dominant, progressive neurodegenerative disorder, for which there is no disease-modifying treatment. By use of predictive genetic testing, it is possible to identify individuals who carry the gene defect before the onset of symptoms, providing a window of opportunity for intervention aimed at preventing or delaying disease onset. However, without robust and practical measures of disease progression (ie, biomarkers), the efficacy of therapeutic interventions in this premanifest Huntington's disease population cannot be readily assessed. Current progress in the development of biomarkers might enable evaluation of disease progression in individuals at the premanifest stage of the disease; these biomarkers could be useful in defining endpoints in clinical trials in this population. Clinical, cognitive, neuroimaging, and biochemical biomarkers are being investigated for their potential in clinical use and their value in the development of future treatments for patients with Huntington's disease.

  11. Monkey hybrid stem cells develop cellular features of Huntington's disease

    Directory of Open Access Journals (Sweden)

    Lorthongpanich Chanchao

    2010-02-01

    Full Text Available Abstract Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as Huntington's disease. Additionally, a Huntington's cell model that develops robust pathological features of Huntington's disease would be valuable for drug discovery research. Results To test this hypothesis, a pluripotent Huntington's disease monkey hybrid cell line (TrES1 was established from a tetraploid Huntington's disease monkey blastocyst generated by the fusion of transgenic Huntington's monkey skin fibroblast and a wild-type non-transgenic monkey oocyte. The TrES1 developed key Huntington's disease cellular pathological features that paralleled neural development. It expressed mutant huntingtin and stem cell markers, was capable of differentiating to neural cells, and developed teratoma in severely compromised immune deficient (SCID mice. Interestingly, the expression of mutant htt, the accumulation of oligomeric mutant htt and the formation of intranuclear inclusions paralleled neural development in vitro , and even mutant htt was ubiquitously expressed. This suggests the development of Huntington's disease cellular features is influenced by neural developmental events. Conclusions Huntington's disease cellular features is influenced by neural developmental events. These results are the first to demonstrate that a pluripotent stem cell line is able to mimic Huntington's disease progression that parallels neural development, which could be a useful cell model for investigating the developmental impact on Huntington's disease pathogenesis.

  12. Maternal transmission in sporadic Huntington's disease.

    OpenAIRE

    Sánchez, A; Milà, M.; Castellví-Bel, S; Rosich, M; Jiménez, D; Badenas, C.; ESTIVILL, X.

    1997-01-01

    Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted expanded to the proband (43 CAG repeats). Molecular analysis of the IT15 gene is extrem...

  13. Governance in a beach seine fishery

    NARCIS (Netherlands)

    Medard, Modesta; Dijk, Van Han; Hebinck, Paul; Geheb, Kim

    2016-01-01

    Beach seine gear is one of the prominent fishing gears in Nile Perch fishery. Before Nile Perch was introduced to the lake, beach seines the species targeted with beach seine were Tilapia, Bagrus, Haplochromis, Protopterus and Labeo. In 1994, beach seines were banned in Tanzania and by 2004, this

  14. Pathogenic insights from Huntington's disease-like 2 and other Huntington's disease genocopies.

    Science.gov (United States)

    Margolis, Russell L; Rudnicki, Dobrila D

    2016-12-01

    Huntington's disease-like 2 (HDL2) is a rare, progressive, autosomal dominant neurodegenerative disorder that genetically, clinically, and pathologically closely resembles Huntington's disease. We review HDL2 pathogenic mechanisms and examine the implications of these mechanisms for Huntington's disease and related diseases. HDL2 is caused by a CTG/CAG repeat expansion in junctophilin-3. Available data from cell and animal models and human brain suggest that HDL2 is a complex disease in which transcripts and proteins expressed bidirectionally from the junctophilin-3 locus contribute to pathogenesis through both gain-and loss-of-function mechanisms. Recent advances indicate that the pathogenesis of Huntington's disease is equally complex, despite the emphasis on toxic gain-of-function properties of the mutant huntingtin protein. Studies examining in parallel the genetic, clinical, neuropathological, and mechanistic similarities between Huntington's disease and HDL2 have begun to identify points of convergence between the pathogenic pathways of the two diseases. Comparisons to other diseases that are phenotypically or genetically related to Huntington's disease and HDL2 will likely reveal additional common pathways. The ultimate goal is to identify shared therapeutic targets and eventually develop therapies that may, at least in part, be effective across multiple similar rare diseases, an essential approach given the scarcity of resources for basic and translational research.

  15. Beach ridges and prograded beach deposits as palaeoenvironment records

    Science.gov (United States)

    Tamura, Toru

    2012-09-01

    Beach ridges are landforms commonly developed on prograded coasts with beach shorelines. A sequence of beach ridges, coupled with their subsurface deposits, can be regarded as a time series of coastal evolution. Methodological advances in field surveying and chronology applicable to beach ridges have led to detailed palaeoenvironmental reconstructions to be derived from such sequences. This paper reconsiders the basic aspects of beach ridges and deposits, which need to be properly understood for their comprehensive interpretation in a palaeo-environmental context. It also reviews case studies in which beach-ridge sequences have been used to unveil past sea-level history, catastrophic events, and climate changes. Proposed formative processes of beach ridges include: 1) progradation of sandy beach and berm formations in relation to fairweather waves, coupled with aeolian foredune accumulation; 2) building of gravel ridges by storm waves; 3) welding of longshore bars. Beach-ridge formation through sea-level oscillation is thought to be questionable and caution is suggested for this process when undertaking palaeoenvironmental reconstruction. Beach deposit stratification is known to dip either landwards or seawards, but landward dips are uncommon. Seaward dipping stratification is formed in relation to beachface progradation, and is usually dissected in places by erosion surfaces resulting from episodic beach retreat. The boundary between the foreshore and the underlying shoreface is well defined only in the case that longshore bars lead to complex bedding structure relative to that of the foreshore. Reliable chronology of beach ridges can be determined by radiocarbon and optically-stimulated luminescence (OSL) dating. Radiocarbon dating of articulated shells, which are considered not to be extensively reworked, provides robust results, but OSL dating is more useful as it enables direct dating of sediment grains. It is noted that there are restrictions in chronological

  16. Beach Volume Change Using Uav Photogrammetry Songjung Beach, Korea

    Science.gov (United States)

    Yoo, C. I.; Oh, T. S.

    2016-06-01

    Natural beach is controlled by many factors related to wave and tidal forces, wind, sediment, and initial topography. For this reason, if numerous topographic data of beach is accurately collected, coastal erosion/acceleration is able to be assessed and clarified. Generally, however, many studies on coastal erosion have limitation to analyse the whole beach, carried out of partial area as like shoreline (horizontal 2D) and beach profile (vertical 2D) on account of limitation of numerical simulation. This is an important application for prevention of coastal erosion, and UAV photogrammetry is also used to 3D topographic data. This paper analyses the use of unmanned aerial vehicles (UAV) to 3D map and beach volume change. UAV (Quadcopter) equipped with a non-metric camera was used to acquire images in Songjung beach which is located south-east Korea peninsula. The dynamics of beach topography, its geometric properties and estimates of eroded and deposited sand volumes were determined by combining elevation data with quarterly RTK-VRS measurements. To explore the new possibilities for assessment of coastal change we have developed a methodology for 3D analysis of coastal topography evolution based on existing high resolution elevation data combined with low coast, UAV and on-ground RTK-VRS surveys. DSMs were obtained by stereo-matching using Agisoft Photoscan. Using GCPs the vertical accuracy of the DSMs was found to be 10 cm or better. The resulting datasets were integrated in a local coordinates and the method proved to be a very useful fool for the detection of areas where coastal erosion occurs and for the quantification of beach change. The value of such analysis is illustrated by applications to coastal of South Korea sites that face significant management challenges.

  17. BEACH VOLUME CHANGE USING UAV PHOTOGRAMMETRY SONGJUNG BEACH, KOREA

    Directory of Open Access Journals (Sweden)

    C. I. Yoo

    2016-06-01

    Full Text Available Natural beach is controlled by many factors related to wave and tidal forces, wind, sediment, and initial topography. For this reason, if numerous topographic data of beach is accurately collected, coastal erosion/acceleration is able to be assessed and clarified. Generally, however, many studies on coastal erosion have limitation to analyse the whole beach, carried out of partial area as like shoreline (horizontal 2D and beach profile (vertical 2D on account of limitation of numerical simulation. This is an important application for prevention of coastal erosion, and UAV photogrammetry is also used to 3D topographic data. This paper analyses the use of unmanned aerial vehicles (UAV to 3D map and beach volume change. UAV (Quadcopter equipped with a non-metric camera was used to acquire images in Songjung beach which is located south-east Korea peninsula. The dynamics of beach topography, its geometric properties and estimates of eroded and deposited sand volumes were determined by combining elevation data with quarterly RTK-VRS measurements. To explore the new possibilities for assessment of coastal change we have developed a methodology for 3D analysis of coastal topography evolution based on existing high resolution elevation data combined with low coast, UAV and on-ground RTK-VRS surveys. DSMs were obtained by stereo-matching using Agisoft Photoscan. Using GCPs the vertical accuracy of the DSMs was found to be 10 cm or better. The resulting datasets were integrated in a local coordinates and the method proved to be a very useful fool for the detection of areas where coastal erosion occurs and for the quantification of beach change. The value of such analysis is illustrated by applications to coastal of South Korea sites that face significant management challenges.

  18. Basic Remote Sensing Investigations for Beach Reconnaissance.

    Science.gov (United States)

    Progress is reported on three tasks designed to develop remote sensing beach reconnaissance techniques applicable to the benthic, beach intertidal...and beach upland zones. Task 1 is designed to develop remote sensing indicators of important beach composition and physical parameters which will...ultimately prove useful in models to predict beach conditions. Task 2 is designed to develop remote sensing techniques for survey of bottom features in

  19. Impaired motor speech performance in Huntington's disease.

    Science.gov (United States)

    Skodda, Sabine; Schlegel, Uwe; Hoffmann, Rainer; Saft, Carsten

    2014-04-01

    Dysarthria is a common symptom of Huntington's disease and has been reported, besides other features, to be characterized by alterations of speech rate and regularity. However, data on the specific pattern of motor speech impairment and their relationship to other motor and neuropsychological symptoms are sparse. Therefore, the aim of the present study was to describe and objectively analyse different speech parameters with special emphasis on the aspect of speech timing of connected speech and non-speech verbal utterances. 21 patients with manifest Huntington's disease and 21 age- and gender-matched healthy controls had to perform a reading task and several syllable repetition tasks. Computerized acoustic analysis of different variables for the measurement of speech rate and regularity generated a typical pattern of impaired motor speech performance with a reduction of speech rate, an increase of pauses and a marked disability to steadily repeat single syllables. Abnormalities of speech parameters were more pronounced in the subgroup of patients with Huntington's disease receiving antidopaminergic medication, but were also present in the drug-naïve patients. Speech rate related to connected speech and parameters of syllable repetition showed correlations to overall motor impairment, capacity of tapping in a quantitative motor assessment and some score of cognitive function. After these preliminary data, further investigations on patients in different stages of disease are warranted to survey if the analysis of speech and non-speech verbal utterances might be a helpful additional tool for the monitoring of functional disability in Huntington's disease.

  20. Destination and source memory in Huntington's disease

    NARCIS (Netherlands)

    El Haj, M.; Caillaud, M.; Verny, C.; Fasotti, L.; Allain, P.

    2016-01-01

    Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults

  1. Kas Huntington oli prohvet? / Priit Simson

    Index Scriptorium Estoniae

    Simson Priit, 1977-

    2008-01-01

    Autor käsitleb Samuel Huntingtoni teese ning leiab, et tegelikult Huntington ei pakkunud õigustust islamiriikide ründamisele, vaid pigem hoiatas tsivilisatsioonide siseasjusse sekkumise, tekkida võiva ahelreaktsiooni eest, kus üks tsivilisatsiooni liige tõmbab sõtta ka teise

  2. Wearable Sensors in Huntington Disease: A Pilot Study.

    Science.gov (United States)

    Andrzejewski, Kelly L; Dowling, Ariel V; Stamler, David; Felong, Timothy J; Harris, Denzil A; Wong, Cynthia; Cai, Hang; Reilmann, Ralf; Little, Max A; Gwin, Joseph T; Biglan, Kevin M; Dorsey, E Ray

    2016-06-18

    The Unified Huntington's Disease Rating Scale (UHDRS) is the principal means of assessing motor impairment in Huntington disease but is subjective and generally limited to in-clinic assessments. To evaluate the feasibility and ability of wearable sensors to measure motor impairment in individuals with Huntington disease in the clinic and at home. Participants with Huntington disease and controls were asked to wear five accelerometer-based sensors attached to the chest and each limb for standardized, in-clinic assessments and for one day at home. A second chest sensor was worn for six additional days at home. Gait measures were compared between controls, participants with Huntington disease, and participants with Huntington disease grouped by UHDRS total motor score using Cohen's d values. Fifteen individuals with Huntington disease and five controls completed the study. Sensor data were successfully captured from 18 of the 20 participants at home. In the clinic, the standard deviation of step time (time between consecutive steps) was increased in Huntington disease (p Huntington disease, and participants with Huntington disease grouped by motor impairment.

  3. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    Directory of Open Access Journals (Sweden)

    Gerlinde A. Metz

    2006-01-01

    Full Text Available In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt. Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They include targeting the symptoms of the disease, the progression of the disease and the cause of the disease. By using RNA interference (RNAi, the cause of the disease can be targeted. RNAi is a method that could potentially silence the formation of abnormal htt. This paper will discuss how RNAi could potentially cure Huntington's disease, by describing the genetic and proteinomic basis of Huntington's disease, the function of RNAi in Huntington's disease and the problems of benefits of RNAi. Preliminary work using RNAi in transgenic mice has shown a decrease in the behavioural expression of the mutant Huntington gene. There are several limitations associated with using RNAi as a gene therapy. For example, the effects of RNAi are short lived. A transposition system such as Sleeping Beauty can be used to increase the integration of the gene, however, for patients who currently have Huntington's disease, RNAi may potentially be used in combination with drugs or other treatments to target both symptoms and the underlying cause of Huntington's disease. This combination could eventually alleviate many painful symptoms associated with Huntington's disease and could even stop the progressive neurodegeneration of Huntington's disease. This review concludes that a substantial amount of new research is still necessary before RNAi is directly applicable to human patients with Huntington's disease.

  4. 1933 Long Beach, USA Images

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — 5 kilometers southwest of Newport Beach. Seriously affected area: 1,200 square kilometers. Damage: $40 million. Schools were among the buildings most severely...

  5. Human Health at the Beach

    Science.gov (United States)

    ... day at the beach are from swimming. Food poisoning from improperly refrigerated picnic lunches may also have ... simple steps to protect against overexposure to UV radiation as well as how to check the UV ...

  6. Horry County Beach Management Plan

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Horry County has coordinated with DHEC OCRM to fully inventory, analyze, and documenteach of the ten required elements for an approvable local comprehensive beach...

  7. A Metabolic Study of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Rajasree Nambron

    Full Text Available Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III and controls.Control (n = 15, premanifest (n = 14 and stage II/III (n = 13 participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a, fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine there is a suggestion (p values between 0.02 and 0.05 that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that

  8. Landing Techniques in Beach Volleyball

    Science.gov (United States)

    Tilp, Markus; Rindler, Michael

    2013-01-01

    The aims of the present study were to establish a detailed and representative record of landing techniques (two-, left-, and right-footed landings) in professional beach volleyball and compare the data with those of indoor volleyball. Beach volleyball data was retrieved from videos taken at FIVB World Tour tournaments. Landing techniques were compared in the different beach and indoor volleyball skills serve, set, attack, and block with regard to sex, playing technique, and court position. Significant differences were observed between men and women in landings following block actions (χ2(2) = 18.19, p volleyball revealed overall differences both in men (χ2(2) = 161.4, p volleyball players land more often on both feet than indoor volleyball players. Besides the softer surface in beach volleyball, and therefore resulting lower loads, these results might be another reason for fewer injuries and overuse conditions compared to indoor volleyball. Key Points About 1/3 of all jumping actions in beach volleyball result in a landing on one foot. Especially following block situations men land on one foot more often than women. Landing techniques are related to different techniques and positions. Landings on one foot are less common in beach volleyball than indoor volleyball. This could be a reason for fewer injuries and overuse conditions. PMID:24149150

  9. Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

    OpenAIRE

    MacMillan, J C; Davies, P.; Harper, P S

    1995-01-01

    The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric sympt...

  10. Normal CAG and CCG repeats in the Huntington`s disease genes of Parkinson`s disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Rubinsztein, D.C.; Leggo, J.; Barton, D.E. [Cambridge Univ. (United Kingdom)] [and others

    1995-04-24

    The clinical features of Parkinson`s disease, particularly rigidity and bradykinesia and occasionally tremor, are seen in juvenile-onset Huntington`s disease. Therefore, the CAG and CCG repeats in the Huntington`s disease gene were investigated in 45 Parkinson`s disease patients and compared to 40 control individuals. All of the Parkinson`s disease chromosomes fell within the normal size ranges. In addition, the distributions of the two repeats in the Parkinson`s disease patients did not differ significantly from those of the control population. Therefore, abnormalities of these trinucleotide repeats in the Huntington`s disease gene are not likely to contribute to the pathogenesis of Parkinson`s disease. 12 refs., 2 figs.

  11. Aeolian transport of seagrass (Posidonia oceanica) beach-cast to terrestrial systems

    Science.gov (United States)

    Jiménez, Maria A.; Beltran, Rafel; Traveset, Anna; Calleja, Maria Ll; Delgado-Huertas, Antonio; Marbà, Núria

    2017-09-01

    The annual export of the Mediterranean seagrass (Posidonia oceanica) litter to adjacent beaches and coastal dunes was quantified by examining the fortnight evolution of seagrass beach-cast volume on two beaches in the NW Mediterranean (Son Real and Es Trenc, Mallorca Island, Spain) for two years and analyzing the wind speed and direction obtained from the closest Meteorological Spanish Agency surface weather stations. The decomposition stage of the deposits was examined by analyzing the total hydrolysable amino acids, its percentage distribution and derived degradation indexes. Prevalent winds exceeding 6 m s-1, the coastline morphology and type of terrestrial vegetation determine the annual dynamics of the seagrass beach-cast. In the most protected beach (Son Real) the seagrass beach-cast remained nearly stationary during the two studied years while it exhibited wide annual fluctuations in the less protected one (Es Trenc). The amounts of P. oceanica wrack washed on Son Real and Es Trenc beaches, respectively, were estimated at 309 kg DW m coastline-1 yr-1 and 1359 kg DW m coastline-1 yr-1. They supplied between 20 kg CaCO3 m coastline-1 yr-1 and 47 kg CaCO3 m coastline-1 yr-1. Between 54% (Son Real) and 70% (Es Trenc) of seagrass beach-cast, respectively accounting for 1.5 kg N m coastline-1 yr-1 and 8.6 kg N m coastline-1 yr-1, were annually exported from the beaches to adjacent dune systems. Our results reveal that Mediterranean seagrass meadows might be an important source of materials, including sand and nutrients, for adjacent terrestrial systems, able to support their functioning.

  12. Aeolian transport of seagrass ( Posidonia oceanica ) beach-cast to terrestrial systems

    KAUST Repository

    Jiménez, Maria A.

    2017-06-29

    The annual export of the Mediterranean seagrass (Posidonia oceanica) litter to adjacent beaches and coastal dunes was quantified by examining the fortnight evolution of seagrass beach-cast volume on two beaches in the NW Mediterranean (Son Real and Es Trenc, Mallorca Island, Spain) for two years and analyzing the wind speed and direction obtained from the closest Meteorological Spanish Agency surface weather stations. The decomposition stage of the deposits was examined by analyzing the total hydrolysable amino acids, its percentage distribution and derived degradation indexes. Prevalent winds exceeding 6 m s−1, the coastline morphology and type of terrestrial vegetation determine the annual dynamics of the seagrass beach-cast. In the most protected beach (Son Real) the seagrass beach-cast remained nearly stationary during the two studied years while it exhibited wide annual fluctuations in the less protected one (Es Trenc). The amounts of P. oceanica wrack washed on Son Real and Es Trenc beaches, respectively, were estimated at 309 kg DW m coastline−1 yr−1 and 1359 kg DW m coastline−1 yr−1. They supplied between 20 kg CaCO3 m coastline−1 yr−1 and 47 kg CaCO3 m coastline−1 yr−1. Between 54% (Son Real) and 70% (Es Trenc) of seagrass beach-cast, respectively accounting for 1.5 kg N m coastline−1 yr−1 and 8.6 kg N m coastline−1 yr−1, were annually exported from the beaches to adjacent dune systems. Our results reveal that Mediterranean seagrass meadows might be an important source of materials, including sand and nutrients, for adjacent terrestrial systems, able to support their functioning.

  13. Activating transcription factor 6 derepression mediates neuroprotection in Huntington disease.

    Science.gov (United States)

    Naranjo, José R; Zhang, Hongyu; Villar, Diego; González, Paz; Dopazo, Xose M; Morón-Oset, Javier; Higueras, Elena; Oliveros, Juan C; Arrabal, María D; Prieto, Angela; Cercós, Pilar; González, Teresa; De la Cruz, Alicia; Casado-Vela, Juan; Rábano, Alberto; Valenzuela, Carmen; Gutierrez-Rodriguez, Marta; Li, Jia-Yi; Mellström, Britt

    2016-02-01

    Deregulated protein and Ca2+ homeostasis underlie synaptic dysfunction and neurodegeneration in Huntington disease (HD); however, the factors that disrupt homeostasis are not fully understood. Here, we determined that expression of downstream regulatory element antagonist modulator (DREAM), a multifunctional Ca2+-binding protein, is reduced in murine in vivo and in vitro HD models and in HD patients. DREAM downregulation was observed early after birth and was associated with endogenous neuroprotection. In the R6/2 mouse HD model, induced DREAM haplodeficiency or blockade of DREAM activity by chronic administration of the drug repaglinide delayed onset of motor dysfunction, reduced striatal atrophy, and prolonged life span. DREAM-related neuroprotection was linked to an interaction between DREAM and the unfolded protein response (UPR) sensor activating transcription factor 6 (ATF6). Repaglinide blocked this interaction and enhanced ATF6 processing and nuclear accumulation of transcriptionally active ATF6, improving prosurvival UPR function in striatal neurons. Together, our results identify a role for DREAM silencing in the activation of ATF6 signaling, which promotes early neuroprotection in HD.

  14. LANDING TECHNIQUES IN BEACH VOLLEYBALL

    Directory of Open Access Journals (Sweden)

    Markus Tilp

    2013-09-01

    Full Text Available The aims of the present study were to establish a detailed and representative record of landing techniques (two-, left-, and right-footed landings in professional beach volleyball and compare the data with those of indoor volleyball. Beach volleyball data was retrieved from videos taken at FIVB World Tour tournaments. Landing techniques were compared in the different beach and indoor volleyball skills serve, set, attack, and block with regard to sex, playing technique, and court position. Significant differences were observed between men and women in landings following block actions (χ²(2 = 18.19, p < 0.01 but not following serve, set, and attack actions. Following blocking, men landed more often on one foot than women. Further differences in landings following serve and attack with regard to playing technique and position were mainly observed in men. The comparison with landing techniques in indoor volleyball revealed overall differences both in men (χ²(2 = 161.4, p < 0.01 and women (χ²(2 = 84.91, p < 0.01. Beach volleyball players land more often on both feet than indoor volleyball players. Besides the softer surface in beach volleyball, and therefore resulting lower loads, these results might be another reason for fewer injuries and overuse conditions compared to indoor volleyball

  15. Large genetic animal models of Huntington's Disease.

    Science.gov (United States)

    Morton, A Jennifer; Howland, David S

    2013-01-01

    The dominant nature of the Huntington's disease gene mutation has allowed genetic models to be developed in multiple species, with the mutation causing an abnormal neurological phenotype in all animals in which it is expressed. Many different rodent models have been generated. The most widely used of these, the transgenic R6/2 mouse, carries the mutation in a fragment of the human huntingtin gene and has a rapidly progressive and fatal neurological phenotype with many relevant pathological changes. Nevertheless, their rapid decline has been frequently questioned in the context of a disease that takes years to manifest in humans, and strenuous efforts have been made to make rodent models that are genetically more 'relevant' to the human condition, including full length huntingtin gene transgenic and knock-in mice. While there is no doubt that we have learned, and continue to learn much from rodent models, their usefulness is limited by two species constraints. First, the brains of rodents differ significantly from humans in both their small size and their neuroanatomical organization. Second, rodents have much shorter lifespans than humans. Here, we review new approaches taken to these challenges in the development of models of Huntington's disease in large brained, long-lived animals. We discuss the need for such models, and how they might be used to fill specific niches in preclinical Huntington's disease research, particularly in testing gene-based therapeutics. We discuss the advantages and disadvantages of animals in which the prodromal period of disease extends over a long time span. We suggest that there is considerable 'value added' for large animal models in preclinical Huntington's disease research.

  16. Revisiting the neuropsychiatry of Huntington's disease

    Directory of Open Access Journals (Sweden)

    Antonio Lucio Teixeira

    Full Text Available ABSTRACT Huntington's disease (HD is an autosomal dominant neurodegenerative disease classified under the choreas. Besides motor symptoms, HD is marked by cognitive and behavioral symptoms, impacting patients' functional capacity. The progression of cognitive impairment and neuropsychiatric symptoms occur in parallel with neurodegeneration. The nature of these symptoms is very dynamic, and the major clinical challenges include executive dysfunction, apathy, depression and irritability. Herein, we provide a focused updated review on the cognitive and psychiatric features of HD.

  17. [Sporadic juvenile forms of Huntington's chorea].

    Science.gov (United States)

    Zinchenko, A P; Goncharov, V D; Burtianskii, D L; Zakhar'ev, Iu M

    1980-01-01

    Six patients with Huntington's chorea in the age of 15-24 years old, suffered from diffusive choreic hyperkynesis with slowly progressive dementia. The development of this disease in childhood and adolescence was atypical, as nobody in the family and in kin sufferred from it and it was difficult to diagnose the disease. Recognition of the disease was promoted by pneumoencephalography, electromyography and memory investigation.

  18. 78 FR 35596 - Special Local Regulation; Long Beach Regatta, Powerboat Race, Atlantic Ocean, Long Beach, NY

    Science.gov (United States)

    2013-06-13

    ... SECURITY Coast Guard 33 CFR Part 100 RIN 1625-AA08 Special Local Regulation; Long Beach Regatta, Powerboat Race, Atlantic Ocean, Long Beach, NY AGENCY: Coast Guard, DHS. ACTION: Notice of Proposed Rulemaking... Atlantic Ocean off Long Beach, NY during the Long Beach Regatta Powerboat Race scheduled for August...

  19. 33 CFR 100.736 - Annual Fort Myers Beach air show; Fort Myers Beach, FL.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Annual Fort Myers Beach air show; Fort Myers Beach, FL. 100.736 Section 100.736 Navigation and Navigable Waters COAST GUARD, DEPARTMENT... Fort Myers Beach air show; Fort Myers Beach, FL. (a)(1) Regulated Area. The regulated area is formed...

  20. 77 FR 50019 - Safety Zone; Cocoa Beach Air Show, Atlantic Ocean, Cocoa Beach, FL

    Science.gov (United States)

    2012-08-20

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Cocoa Beach Air Show, Atlantic Ocean, Cocoa... establishing a temporary safety zone on the waters of the Atlantic Ocean located east of Cocoa Beach, Florida during the Cocoa Beach Air Show. The Cocoa Beach Air Show will include aircraft engaging in...

  1. Improving Oasis Beach: Creating a sustainable and attractive beach around hotel Oasis in Varadero Cuba

    NARCIS (Netherlands)

    Vrolijk, E.F.; Poelhekke, L.; Schlepers, M.H.; De Boer, G.G.

    2014-01-01

    In the North of Cuba, the Oasis beach area is situated. The beach suffers from structural erosion and earlier measures to deal with this have not succeeded. In this project, a solution is offered to reach two goals: foremost, a beach improvement to the Oasis beach sector and second, a halt to the s

  2. 76 FR 54703 - Safety Zone; Myrtle Beach Triathlon, Atlantic Intracoastal Waterway, Myrtle Beach, SC

    Science.gov (United States)

    2011-09-02

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Myrtle Beach Triathlon, Atlantic... Beach, South Carolina during the Myrtle Beach Triathlon. The Myrtle Beach Triathlon, which is comprised of a series of triathlon races, is scheduled to take place on Saturday, October 8, 2011 and...

  3. 76 FR 37700 - Safety Zone; Myrtle Beach Triathlon, Atlantic Intracoastal Waterway, Myrtle Beach, SC

    Science.gov (United States)

    2011-06-28

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Myrtle Beach Triathlon, Atlantic... Waterway in Myrtle Beach, South Carolina during the Myrtle Beach Triathlon. The Myrtle Beach Triathlon, which is comprised of a series of triathlon races, is scheduled to take place on Saturday, October...

  4. 77 FR 14321 - Safety Zone; Myrtle Beach Triathlon, Atlantic Intracoastal Waterway, Myrtle Beach, SC

    Science.gov (United States)

    2012-03-09

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Myrtle Beach Triathlon, Atlantic... Waterway in Myrtle Beach, South Carolina during the Myrtle Beach Triathlon. The Myrtle Beach Triathlon, which is comprised of a series of triathlon races, is scheduled to take place on Saturday, October...

  5. Lake Beach Monitoring Locations in Iowa

    Data.gov (United States)

    Iowa State University GIS Support and Research Facility — Monitored state lake beach locations in Iowa. The Watershed Monitoring & Assessment Section of the Iowa DNR takes regular water samples at these listed beaches...

  6. Santa Barbara Littoral Cell CRSMP Beaches 2009

    Data.gov (United States)

    California Department of Resources — Several criteria were used for beach selection. BEACON 's Coastal Regional Sediment Management Plan included all of the most popular beaches in the two counties...

  7. Amchitka beach surveys, 1978-1980

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Surveys of 16 beaches on Amchitka Island began 28 October 1978 as part of Alaska Beached Bird Survey. The purpose of the surveys is to provide baseline data on...

  8. Santa Barbara Littoral Cell CRSMP Beaches 2009

    Data.gov (United States)

    California Department of Resources — Several criteria were used for beach selection. BEACON 's Coastal Regional Sediment Management Plan included all of the most popular beaches in the two counties...

  9. Heterotrophic bacterial populations in tropical sandy beaches

    Digital Repository Service at National Institute of Oceanography (India)

    Nair, S.; LokaBharathi, P.A.

    Distribution pattern of heterotrophic bacterial flora of three sandy beaches of the west coast of India was studied. The population in these beaches was microbiologically different. Population peaks of halotolerant and limnotolerant forms were...

  10. Inventory and Evaluation of Cultural Resources, Bolsa Chica Mesa and Huntington Beach Mesa, Orange County, California

    Science.gov (United States)

    1989-09-30

    1615 Relacl6n de la Jornada que Hizo el General Sevastian Vizcayno al Descubrimiento de las Californias el Aho de 1602 por Mandado del Segor...California Press, Berkeley. Prosch, R. R. 1978 Catalog of Fossil Hominids of North America . Fischer. New York and Stu’tf-ar t.7 Ricketts, E. F., J

  11. H10331: NOS Hydrographic Survey , Vicinity of Huntington Beach, Calfornia, 1990-02-26

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The National Oceanic and Atmospheric Administration (NOAA) has the statutory mandate to collect hydrographic data in support of nautical chart compilation for safe...

  12. Dantrolene is neuroprotective in Huntington's disease transgenic mouse model

    Directory of Open Access Journals (Sweden)

    Chen Xi

    2011-11-01

    Full Text Available Abstract Background Huntington's disease (HD is a progressive neurodegenerative disorder caused by a polyglutamine expansion in the Huntingtin protein which results in the selective degeneration of striatal medium spiny neurons (MSNs. Our group has previously demonstrated that calcium (Ca2+ signaling is abnormal in MSNs from the yeast artificial chromosome transgenic mouse model of HD (YAC128. Moreover, we demonstrated that deranged intracellular Ca2+ signaling sensitizes YAC128 MSNs to glutamate-induced excitotoxicity when compared to wild type (WT MSNs. In previous studies we also observed abnormal neuronal Ca2+ signaling in neurons from spinocerebellar ataxia 2 (SCA2 and spinocerebellar ataxia 3 (SCA3 mouse models and demonstrated that treatment with dantrolene, a ryanodine receptor antagonist and clinically relevant Ca2+ signaling stabilizer, was neuroprotective in experiments with these mouse models. The aim of the current study was to evaluate potential beneficial effects of dantrolene in experiments with YAC128 HD mouse model. Results The application of caffeine and glutamate resulted in increased Ca2+ release from intracellular stores in YAC128 MSN cultures when compared to WT MSN cultures. Pre-treatment with dantrolene protected YAC128 MSNs from glutamate excitotoxicty, with an effective concentration of 100 nM and above. Feeding dantrolene (5 mg/kg twice a week to YAC128 mice between 2 months and 11.5 months of age resulted in significantly improved performance in the beam-walking and gait-walking assays. Neuropathological analysis revealed that long-term dantrolene feeding to YAC128 mice significantly reduced the loss of NeuN-positive striatal neurons and reduced formation of Httexp nuclear aggregates. Conclusions Our results support the hypothesis that deranged Ca2+ signaling plays an important role in HD pathology. Our data also implicate the RyanRs as a potential therapeutic target for the treatment of HD and demonstrate that Ryan

  13. Differentiating Experts' Anticipatory Skills in Beach Volleyball

    Science.gov (United States)

    Canal-Bruland, Rouwen; Mooren, Merel; Savelsbergh, Geert J. P.

    2011-01-01

    In this study, we examined how perceptual-motor expertise and watching experience contribute to anticipating the outcome of opponents' attacking actions in beach volleyball. To this end, we invited 8 expert beach volleyball players, 8 expert coaches, 8 expert referees, and 8 control participants with no beach volleyball experience to watch videos…

  14. Differentiating Experts' Anticipatory Skills in Beach Volleyball

    Science.gov (United States)

    Canal-Bruland, Rouwen; Mooren, Merel; Savelsbergh, Geert J. P.

    2011-01-01

    In this study, we examined how perceptual-motor expertise and watching experience contribute to anticipating the outcome of opponents' attacking actions in beach volleyball. To this end, we invited 8 expert beach volleyball players, 8 expert coaches, 8 expert referees, and 8 control participants with no beach volleyball experience to watch videos…

  15. Altered cholesterol and fatty acid metabolism in Huntington disease.

    Science.gov (United States)

    Block, Robert C; Dorsey, E Ray; Beck, Christopher A; Brenna, J Thomas; Shoulson, Ira

    2010-01-01

    Huntington disease is an autosomal dominant neurodegenerative disorder characterized by behavioral abnormalities, cognitive decline, and involuntary movements that lead to a progressive decline in functional capacity, independence, and ultimately death. The pathophysiology of Huntington disease is linked to an expanded trinucleotide repeat of cytosine-adenine-guanine (CAG) in the IT-15 gene on chromosome 4. There is no disease-modifying treatment for Huntington disease, and novel pathophysiological insights and therapeutic strategies are needed. Lipids are vital to the health of the central nervous system, and research in animals and humans has revealed that cholesterol metabolism is disrupted in Huntington disease. This lipid dysregulation has been linked to specific actions of the mutant huntingtin on sterol regulatory element binding proteins. This results in lower cholesterol levels in affected areas of the brain with evidence that this depletion is pathologic. Huntington disease is also associated with a pattern of insulin resistance characterized by a catabolic state resulting in weight loss and a lower body mass index than individuals without Huntington disease. Insulin resistance appears to act as a metabolic stressor attending disease progression. The fish-derived omega-3 fatty acids, eicosapentaenoic acid and docosahexaenoic acid, have been examined in clinical trials of Huntington disease patients. Drugs that combat the dysregulated lipid milieu in Huntington disease may help treat this perplexing and catastrophic genetic disease.

  16. Arithmetic Word-Problem-Solving in Huntington's Disease

    Science.gov (United States)

    Allain, P.; Verny, C.; Aubin, G.; Pinon, K.; Bonneau, D.; Dubas, F.; Gall, D.L.

    2005-01-01

    The purpose of this study was to examine executive functioning in patients with Huntington's disease using an arithmetic word-problem-solving task including eight solvable problems of increasing complexity and four aberrant problems. Ten patients with Huntington's disease and 12 normal control subjects matched by age and education were tested.…

  17. Comprehension of Complex Discourse in Different Stages of Huntington's Disease

    Science.gov (United States)

    Saldert, Charlotta; Fors, Angelika; Stroberg, Sofia; Hartelius, Lena

    2010-01-01

    Background: Huntington's disease not only affects motor speech control, but also may have an impact on the ability to produce and understand language in communication. Aims: The ability to comprehend basic and complex discourse was investigated in three different stages of Huntington's disease. Methods & Procedures: In this experimental group…

  18. Testing and Refining the Ohio Nowcast at Two Lake Erie Beaches-2008

    Science.gov (United States)

    Francy, Donna S.; Bertke, Erin E.; Darner, Robert A.

    2009-01-01

    The Ohio Nowcast has been providing real-time beach advisories to the public on the basis of predictive models since 2006. In support of the nowcast, data were collected during the recreational season of 2008 to validate and refine predictive models at two Lake Erie beaches. Predictive models yield data on the probability that the single-sample bathing-water standard for E. coli will be exceeded. Field personnel collected or compiled data on Escherichia coli (E. coli) concentrations as well as variables expected to affect these concentrations, including manual and automated measurements of turbidity, wave height, and water temperature; lake level; and radar and airport rainfall amounts. Two new variables were measured during 2008 - photosynthetically-active radiation at Huntington (Bay Village) and foreshore head at Edgewater (Cleveland). (The foreshore is a strip of land along a body of water between low and high water marks.) The performance of the nowcast was monitored during 2008. The Huntington nowcast yielded a greater percentage of correct responses (84.9 percent) than did the previous day's E. coli concentration (75.2 percent). In contrast, at Edgewater, the nowcast yielded a slightly higher percentage of correct responses (61.0 percent) as compared to the previous day's E. coli concentration (56.5 percent), but both percentages were relatively low. Lake levels in 2008 were significantly higher than levels in the data used to develop the Edgewater models (2004-7), confounding their abilities to provide correct responses. At Edgewater during 2008, the strongest relation (as measured by Pearson's correlation) was between E. coli concentrations and the difference in foreshore head over the past 24 hours (r=0.48), a variable not included in the models. At Huntington, photosynthetically-active radiation on the previous day showed a significant negative relation to E. coli concentrations (r=-0.33) during 2008. Refined models were developed for Huntington and

  19. Examination of Huntington's disease in a Chinese family.

    Science.gov (United States)

    Yu, Mingxia; Li, Xiaogai; Wu, Sanyun; Shen, Ji; Tu, Jiancheng

    2014-02-15

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  20. Communication and Huntington's Disease: Qualitative Interviews and Focus Groups with Persons with Huntington's Disease, Family Members, and Carers

    Science.gov (United States)

    Hartelius, Lena; Jonsson, Maria; Rickeberg, Anneli; Laakso, Katja

    2010-01-01

    Background: As an effect of the cognitive, emotional and motor symptoms associated with Huntington's disease, communicative interaction is often dramatically changed. No study has previously included the subjective reports on this subject from individuals with Huntington's disease. Aims: To explore the qualitative aspects of how communication is…

  1. 3-NP-induced neurodegeneration studies in experimental models of Huntington's disease : apoptosis in Huntington's disease

    NARCIS (Netherlands)

    Vis, Johanna Catharina

    2005-01-01

    This thesis investigates the possible role of apoptosis, or programmed cell death, in Huntington's disease (HD). HD is caused by an expanded CAG repeat in the N-terminal region of the huntingtin protein leading to specific neostriatal neurodegeneration. The sequence of events that leads to this sele

  2. Can beaches survive climate change?

    Science.gov (United States)

    Vitousek, Sean; Barnard, Patrick L.; Limber, Patrick

    2017-04-01

    Anthropogenic climate change is driving sea level rise, leading to numerous impacts on the coastal zone, such as increased coastal flooding, beach erosion, cliff failure, saltwater intrusion in aquifers, and groundwater inundation. Many beaches around the world are currently experiencing chronic erosion as a result of gradual, present-day rates of sea level rise (about 3 mm/year) and human-driven restrictions in sand supply (e.g., harbor dredging and river damming). Accelerated sea level rise threatens to worsen coastal erosion and challenge the very existence of natural beaches throughout the world. Understanding and predicting the rates of sea level rise and coastal erosion depends on integrating data on natural systems with computer simulations. Although many computer modeling approaches are available to simulate shoreline change, few are capable of making reliable long-term predictions needed for full adaption or to enhance resilience. Recent advancements have allowed convincing decadal to centennial-scale predictions of shoreline evolution. For example, along 500 km of the Southern California coast, a new model featuring data assimilation predicts that up to 67% of beaches may completely erode by 2100 without large-scale human interventions. In spite of recent advancements, coastal evolution models must continue to improve in their theoretical framework, quantification of accuracy and uncertainty, computational efficiency, predictive capability, and integration with observed data, in order to meet the scientific and engineering challenges produced by a changing climate.

  3. Can beaches survive climate change?

    Science.gov (United States)

    Vitousek, Sean; Barnard, Patrick L.; Limber, Patrick W.

    2017-01-01

    Anthropogenic climate change is driving sea level rise, leading to numerous impacts on the coastal zone, such as increased coastal flooding, beach erosion, cliff failure, saltwater intrusion in aquifers, and groundwater inundation. Many beaches around the world are currently experiencing chronic erosion as a result of gradual, present-day rates of sea level rise (about 3 mm/year) and human-driven restrictions in sand supply (e.g., harbor dredging and river damming). Accelerated sea level rise threatens to worsen coastal erosion and challenge the very existence of natural beaches throughout the world. Understanding and predicting the rates of sea level rise and coastal erosion depends on integrating data on natural systems with computer simulations. Although many computer modeling approaches are available to simulate shoreline change, few are capable of making reliable long-term predictions needed for full adaption or to enhance resilience. Recent advancements have allowed convincing decadal to centennial-scale predictions of shoreline evolution. For example, along 500 km of the Southern California coast, a new model featuring data assimilation predicts that up to 67% of beaches may completely erode by 2100 without large-scale human interventions. In spite of recent advancements, coastal evolution models must continue to improve in their theoretical framework, quantification of accuracy and uncertainty, computational efficiency, predictive capability, and integration with observed data, in order to meet the scientific and engineering challenges produced by a changing climate.

  4. Characterization of conservative somatic instability of the CAG repeat region in Huntington`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, F.V.; Calikoglu, A.S.; Whetsell, L.H. [H.A. Chapman Research Institute of Medical Genetics, Tulsa, OK (United States)

    1994-09-01

    Instability and enlargement of a CAG repeat region at the beginning of the huntingtin gene (IT-15) has been linked with Huntington`s disease. The CAG repeat size shows a highly significant correlation with age-of-onset of clinicial features in individuals with 40 or more repeats who have Huntington disease. The clinical status of nonsymptomatic individuals with 30 to 39 CAG repeats is considered ambiguous. In order to define more carefully the nature of the HD expansion instability, we examined patients in our HD population using a discriminating fluorescence-based PCR approach. The degree of somatic mutation increases with both earlier age of onset and the size of the inherited allele. A single prominent band one repeat larger than the index peak was typical in individuals with 40-41 CAG repeats. Three to four larger bands are typically discerned in individuals with 50 or more repeats. In an extreme example, an individual with approximately 95 repeats had at least 8 prominent bands. Plotting the degree of somatic mutation relative to the size of the HD allele shows somatic mutation activity increases with size. By this approach 40-60% of the alleles in a 40-41 CAG repeat HD loci is represented in the primary allele. In contrast, the primary allele represents a relatively minor proportion of the total alleles for expansions greater than 50 CAG repeats (10-20%). The limited range of somatic mutation suggest that the instability is restricted to very early stages of embryogenesis before tissue development diverges or that persistent somatic instability occurs at a slow rate. Therefore, the properties of somatic instability in Huntington`s disease have aspects that are both in common but also different from that found in other trinucleotide repeat expanding diseases such as myotonic muscular dystrophy and fragile X syndrome.

  5. Virtual Beach 3: user's guide

    Science.gov (United States)

    Cyterski, Mike; Brooks, Wesley; Galvin, Mike; Wolfe, Kurt; Carvin, Rebecca; Roddick, Tonia; Fienen, Mike; Corsi, Steve

    2014-01-01

    Virtual Beach version 3 (VB3) is a decision support tool that constructs site-specific statistical models to predict fecal indicator bacteria (FIB) concentrations at recreational beaches. VB3 is primarily designed for beach managers responsible for making decisions regarding beach closures or the issuance of swimming advisories due to pathogen contamination. However, researchers, scientists, engineers, and students interested in studying relationships between water quality indicators and ambient environmental conditions will find VB3 useful. VB3 reads input data from a text file or Excel document, assists the user in preparing the data for analysis, enables automated model selection using a wide array of possible model evaluation criteria, and provides predictions using a chosen model parameterized with new data. With an integrated mapping component to determine the geographic orientation of the beach, the software can automatically decompose wind/current/wave speed and magnitude information into along-shore and onshore/offshore components for use in subsequent analyses. Data can be examined using simple scatter plots to evaluate relationships between the response and independent variables (IVs). VB3 can produce interaction terms between the primary IVs, and it can also test an array of transformations to maximize the linearity of the relationship The software includes search routines for finding the "best" models from an array of possible choices. Automated censoring of statistical models with highly correlated IVs occurs during the selection process. Models can be constructed either using previously collected data or forecasted environmental information. VB3 has residual diagnostics for regression models, including automated outlier identification and removal using DFFITs or Cook's Distances.

  6. Altered Fractional Anisotropy in Early Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Silky Singh

    2013-02-01

    Full Text Available Huntington's disease (HD is a dominantly inherited neurodegenerative disease best known for chorea. The disorder includes numerous other clinical features including mood disorder, eye movement abnormalities, cognitive disturbance, pendular knee reflexes, motor impersistence, and postural instability. We describe a mild case of HD early in the disease course with depression and subtle neurological manifestations. In addition, we review MRI and diffusion tensor imaging features in this patient. The bicaudate ratio, a measure of caudate atrophy, was increased. Fractional anisotropy values of the bilateral caudate and putamen were increased, signifying neurodegeneration of these structures in HD.

  7. Huntingtin processing in pathogenesis of Huntington disease

    Institute of Scientific and Technical Information of China (English)

    Zhenghong QIN; Zhenlun GU

    2004-01-01

    Huntington's disease (HD) is caused by an expansion of the polyglutamine tract in the protein named huntingtin.The expansion of polyglutamine tract induces selective degeneration of striatal projection neurons and cortical pyramidal neurons. The bio-hallmark of HD is the formation of intranuclear inclusions and cytoplasmic aggregates in association with other cellular proteins in vulnerable neurons. Accumulation of N-terminal mutant huntingtin in HD brains is prominent. These pathological features are related to protein misfolding and impairments in protein processing and degradation in neurons. This review focused on the role of proteases in huntingtin cleavage and degradation and the contribution of altered processing of mutant huntingtin to HD pathogenesis.

  8. Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease.

    Science.gov (United States)

    Paul, Bindu D; Sbodio, Juan I; Xu, Risheng; Vandiver, M Scott; Cha, Jiyoung Y; Snowman, Adele M; Snyder, Solomon H

    2014-05-01

    Huntington's disease is an autosomal dominant disease associated with a mutation in the gene encoding huntingtin (Htt) leading to expanded polyglutamine repeats of mutant Htt (mHtt) that elicit oxidative stress, neurotoxicity, and motor and behavioural changes. Huntington's disease is characterized by highly selective and profound damage to the corpus striatum, which regulates motor function. Striatal selectivity of Huntington's disease may reflect the striatally selective small G protein Rhes binding to mHtt and enhancing its neurotoxicity. Specific molecular mechanisms by which mHtt elicits neurodegeneration have been hard to determine. Here we show a major depletion of cystathionine γ-lyase (CSE), the biosynthetic enzyme for cysteine, in Huntington's disease tissues, which may mediate Huntington's disease pathophysiology. The defect occurs at the transcriptional level and seems to reflect influences of mHtt on specificity protein 1, a transcriptional activator for CSE. Consistent with the notion of loss of CSE as a pathogenic mechanism, supplementation with cysteine reverses abnormalities in cultures of Huntington's disease tissues and in intact mouse models of Huntington's disease, suggesting therapeutic potential.

  9. Time-frequency analysis of beach bacteria variations and its implication for recreational water quality modeling.

    Science.gov (United States)

    Ge, Zhongfu; Frick, Walter E

    2009-02-15

    This paper exploited the potential of the wavelet analysis in resolving beach bacteria concentration and candidate explanatory variables across multiple time scales with temporal information preserved. The wavelet transform of E. coli concentration and its explanatory variables observed at Huntington Beach, Ohio in 2006 exhibited well-defined patterns of different time scales, phases, and durations, which cannot be clearly shown in conventional time-domain analyses. If linear regression modeling is to be used for the ease of implementation and interpretation,the wavelet-transformed regression model reveals that low model residual can be realized through matching major patterns and their phase angles between E. coli concentration and its explanatory variables. The property of pattern matching for linear regression models can be adopted as a criterion for choosing useful predictors, while phase matching further explains why intuitively good variables such as wave height and onshore wind speed were excluded from the optimal models by model selection processes in Frick et al. (Environ. Sci. Technol. 2008, 42,4818-4824). The phase angles defined by the wavelet analysis in the time-frequency domain can help identify the physical processes and interactions occurring between bacteria concentration and its explanatory variables. It was deduced, for this particular case, that wind events resulted in elevated E. coli concentration, wave height, and turbidity at the beach with a periodicity of 7-8 days. Wind events also brought about increased beach bacteria concentrations through large-scale current circulations in the lake with a period of 21 days. The time length for linear regression models with statistical robustness can also be deduced from the periods of the major patterns in bacteria concentration and explanatory variables, which explains and supplements the modeling efforts performed in (1).

  10. Unawareness of motor phenoconversion in Huntington disease.

    Science.gov (United States)

    McCusker, Elizabeth A; Gunn, David G; Epping, Eric A; Loy, Clement T; Radford, Kylie; Griffith, Jane; Mills, James A; Long, Jeffrey D; Paulsen, Jane S

    2013-09-24

    To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs. We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, self-report of progression, and cognitive, behavioral, and imaging measures. Unawareness was identified when no motor symptoms were self-reported but when definite motor HD was diagnosed. Of 38 (6.91%) with onset of motor HD, almost half (18/38 = 47.36%) had no motor symptoms despite signs of disease on the UHDRS motor rating and consistent with unawareness. A group with motor symptoms and signs was similar on a range of measures to the unaware group. Those with unawareness of HD signs reported less depression. Patients with symptoms had more striatal atrophy on imaging measures. Only half of the patients with newly diagnosed motor HD had motor symptoms. Unaware patients were less likely to be depressed. Self-report of symptoms may be inaccurate in HD at the earliest stage.

  11. High Protein Diet and Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Chiung-Mei Chen

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder caused by the huntingtin (HTT gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT exists in the liver and causes urea cycle deficiency. A low protein diet (17% restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories than in mice (~22%. We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein for 5 days, followed by a high protein diet (HPD, 26.3% protein for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington's Disease Rating Scale (UHDRS. The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378 in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression.

  12. 78 FR 9667 - Foreign-Trade Zone 50-Long Beach, California; Notification of Proposed Production Activity...

    Science.gov (United States)

    2013-02-11

    ... Foreign-Trade Zones Board Foreign-Trade Zone 50--Long Beach, California; Notification of Proposed Production Activity; Panasonic Corporation of North America (Kitting of Consumer Electronics); Anaheim, CA... FTZ 50. The facility is used for the kitting of consumer electronics parts into retail...

  13. Vibration Damping Workshop Proceedings Held at Long Beach, California on 27-29 February 1984.

    Science.gov (United States)

    1984-11-11

    1976). 21. Rimkunas, D. A. and H. M. Frye : Investigation of Fan Blade Shroud Mechanical Damping. Wright-Patterson Air Force Base, Aero Propulsion Lab...AFB, OH 45433 Newport Beach, CA 92660 Roy Ikegami Allen Kandelman Boeing Aerospace Company Northrop Corporation Structural Development Flight Controls...Mail Stop 8C-43, P.O. Box 3999 One Northrop Avenue, Dept. 3320/AL Seattle, WA 98124 Hawthorne, CA 90250 Norman L. Ingold Abner Kaplan U.S. Air Force

  14. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

    OpenAIRE

    Guimarães João; Xavier Miguel; Corrêa Bernardo

    2006-01-01

    Abstract Background Huntington's disease (HD) is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-lik...

  15. O desenvolvimento político em Huntington e Fukuyama Huntington and Fukuyama on political development

    Directory of Open Access Journals (Sweden)

    Natália Nóbrega de Mello

    2010-01-01

    Full Text Available O artigo contrasta as teses de Huntington e Fukuyama sobre desenvolvimento político. As obras analisadas, Ordem política nas sociedades em mudança e O fim da história, inscrevem-se entre duas conjunturas decisivas - 1968 e 1989. Huntington desmontou a equivalência entre desenvolvimento político e modernização e Fukuyama reafirmou a democracia como o destino de todos os países e, desse modo, como o fim da história. Nesta comparação, dois eixos se sobressaem: o contexto de produção das obras e a alternância entre os polos teóricos da democracia e da estabilidade. Procura-se demonstrar como, apesar de reinserir a democracia no desenvolvimento político, a instabilidade continua a ser um foco privilegiado de análise no pensamento de Fukuyama.The article contrasts the theories of Huntington and Fukuyama on political development. The analyzed works, Political order in changing societies and The end of history, fall between two decisive historical moments - in 1968 and 1989. Huntington disassembled the equivalence between political development and modernization; Fukuyama reaffirmed democracy as the destiny of all countries and, as such, it is the end of history. In this comparison, two axes call our attention: the production context of these works and the alternation between the theoreticals poles of democracy and stability. The article shows how, although reenters democracy in the political development theory, instablility remains a prime focus of analysis in Fukuyama's thought.

  16. Américo Negrette and Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Moscovich

    2011-08-01

    Full Text Available The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

  17. 1H magnetic resonance spectroscopy in preclinical Huntington disease

    NARCIS (Netherlands)

    van Oostrom, Joost C. H.; Sijens, Paul E.; Roos, Raymund A. C.; Leenders, Klaus L.

    2007-01-01

    Huntington disease (HD) is a hereditary brain disease, causing progressive deterioration after a preclinical phase. The pathophysiology of early brain abnormalities around disease onset is largely unknown. Some preclinical mutation carriers (PMC) show structural or metabolic changes on brain imaging

  18. Juvenile Huntington's disease: a case report and literature review.

    Science.gov (United States)

    Reyes Molón, L; Yáñez Sáez, R M; López-Ibor Alcocer, M I

    2010-01-01

    Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.

  19. Genetics Home Reference: Huntington disease-like syndrome

    Science.gov (United States)

    ... 21915. Citation on PubMed Wild EJ, Tabrizi SJ. Huntington's disease phenocopy syndromes. Curr Opin Neurol. 2007 Dec;20(6):681-7. Review. Citation on PubMed Reviewed : August 2008 Published : August ...

  20. Episodic Memory Decline in Huntington's Disease, A Binding Deficit?

    NARCIS (Netherlands)

    El Haj, M.; Caillaud, M.; Fasotti, L.; Verny, C.; Allain, P.

    2013-01-01

    Background: Huntington's disease (HD) is characterized by episodic memory deterioration. Objective: Our paper investigates the cognitive mechanisms that might underlie this decline. To this aim, we tested two executive hypotheses, the binding and the inhibition hypotheses. Methods: Fifteen HD patien

  1. Parcels and Land Ownership, Published in 2011, Huntington County Government.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Parcels and Land Ownership dataset as of 2011. The extent of these data is generally Huntington County, IN. This metadata was auto-generated through the Ramona...

  2. O paradigma de Huntington e o realismo político Huntington's paradigm and political realism

    Directory of Open Access Journals (Sweden)

    José R. Novaes Chiappin

    1994-12-01

    Full Text Available Examina-se a proposta de Huntington de um novo paradigma da política internacional (centrado na idéia de "civilizações" em substituição ao paradigma do realismo. Demonstra-se que se trata, na realidade, de um subparadigma do realismo e, portanto, a ele subordinado. Aplica-se isso à mudança da concepção estratégica de "contenção", que passa a aplicar-se às civilizações não-ocidentais e não mais ao expansionismo soviético.Huntington's proposal of a new paradigm for international politics (focused on the idea of "civilizations", meant to replace the paradigm of realism, is examined. It is shown that the proposed new paradigm should in fact be viewed as as sub-paradigm of the realist one. In particular, it is pointed out that Huntington's proposal, in a realist vein, draws on the idea of "containment", which is now directed (instead of its former target, the soviet expansionism to non-Western civilizations.

  3. Olivine sand from Kawashiri Beach in Kagoshima, Japan

    OpenAIRE

    MATSUI, Tomoaki; マツイ, トモアキ; 松井, 智彰

    2001-01-01

    The olivine sand from Kawashiri Beach was studied by chemical and X-ray analyses. At least six groups of olivine are mixed in the olivine sand in this region, and they are classified according to the composition of the silicate-melt inclusions in them. The composition of the olivine sand ranges from Fo_70 to Fo_75, and the sum of the Mn_2SiO_4 and Ca_2SiO_4 content is less than 1 (mol %). These crystal chemical data for the olivine sand not only provide basic mineralogical info...

  4. Case study Piçarras Beach: Erosion and nourishment of a headland bay beach

    NARCIS (Netherlands)

    Van den Heuvel, S.; Hoekstra, R.; De Zeeuw, R.; Zoon, A.

    2008-01-01

    Master project report. Piçarras is one of the touristic beaches of Santa Catarina state in Brazil. Piçarras beach is a headland bay beach. In the bay irregular features like an island, rocky outcrops and shoals are present influencing wave propagation. In the south Piçarras is bounded by Piçarras ri

  5. 77 FR 27120 - Safety Zone; Virginia Beach Oceanfront Air Show, Atlantic Ocean, Virginia Beach, VA

    Science.gov (United States)

    2012-05-09

    ..., Virginia Beach, VA in the Federal Register (76 FR 13519). We received one comment on the proposed rule. No... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Virginia Beach Oceanfront Air Show, Atlantic Ocean, Virginia Beach, VA AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY:...

  6. Beach Nourishment Techniques. Report 3. Typical U.S. Beach Nourishment Projects Using Offshore Sand Deposits.

    Science.gov (United States)

    1981-05-01

    Cooperative Beach Erosion Control Project at Presque Isle Peninsula, Erie , Pennsylvania ," Buffalo, N. Y. U. S. Army Engineer District, Charleston. 1963 (Mar...104 Presque Isle , Pa .. .. ..................... 109 REFERENCES .. ............................ 115 2A BEACH NOURISHMENT...RIVER COUNTY, FL T PRESQUE ISLE . PA Figure 1. Beach fill projects location map ...../ ...... studies have been authorized, or which are publicly owned

  7. Studies on Thiobacilli spp. isolated from sandy beaches of Kerala

    Digital Repository Service at National Institute of Oceanography (India)

    Gore, P.S.; Raveendran, O.; Unnithan, R.V.

    Occurrence, isolation and oxidative activity of Thiobacilli spp. from some sandy beaches of Kerala are reported. These organisms were encountered in polluted beaches and were dominant during monsoon in all the beaches...

  8. Subtle changes among presymptomatic carriers of the Huntington's disease gene

    OpenAIRE

    S. Kirkwood; Siemers, E.; Hodes, M; Conneally, P; Christian, J.; Foroud, T

    2000-01-01

    OBJECTIVES—To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characterise early signs of disease and to identify markers of neurological function that could be used to assess the impact of experimental therapies on the progression of disease, even among those who are clinically presymptomatic.
METHODS—A sample of people at risk for Huntington's dis...

  9. Samuel Huntington, Clash of Civilizations: A Book Review

    OpenAIRE

    Yrd. Doç. Dr. Cengiz Kartýn

    2015-01-01

    Samuel Huntington's The Clash of Civilizations was written in 1993 by him. Study is a work containing the article and the responses to this article. Work is composed of two main parts. Makes the important point of this study is the process that began with the September 11 attacks by some strategists that is exactly the way towards a world where it is hidden in Huntington's fictionalized articulate.

  10. Linking SNPs to CAG repeat length in Huntington's disease patients.

    Science.gov (United States)

    Liu, Wanzhao; Kennington, Lori A; Rosas, H Diana; Hersch, Steven; Cha, Jang-Ho; Zamore, Phillip D; Aronin, Neil

    2008-11-01

    Allele-specific silencing using small interfering RNAs targeting heterozygous single-nucleotide polymorphisms (SNPs) is a promising therapy for human trinucleotide repeat diseases such as Huntington's disease. Linking SNP identities to the two HTT alleles, normal and disease-causing, is a prerequisite for allele-specific RNA interference. Here we describe a method, SNP linkage by circularization (SLiC), to identify linkage between CAG repeat length and nucleotide identity of heterozygous SNPs using Huntington's disease patient peripheral blood samples.

  11. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.

    OpenAIRE

    Xuereb, J H; MacMillan, J C; Snell, R; Davies, P.; Harper, P S

    1996-01-01

    OBJECTIVE--To correlate the degree of CAG repeat expansion with neuropathological findings in Huntington's disease. METHODS--The CAG repeat polymorphism was analysed in a large series of brain samples from 268 patients with a clinical diagnosis of Huntington's disease in which full neuropathological data was available. RESULTS--Analysis by polymerase chain reaction was successful in 63% of samples (169 of 268). Repeat expansions were detected in 152 of 153 (99%) samples with a neuropathologic...

  12. Levodopa responsive parkinsonism in an adult with Huntington's disease

    OpenAIRE

    Racette, B.; Perlmutter, J

    1998-01-01

    A patient is reported on with Huntington's disease who, as an adult, first developed severe parkinsonism with bradykinesia, rigidity, postural instability and festinating gait. His clinical signs were similar to those of the Westphal variant of Huntington's disease except that he also had resting tremor and a supranuclear gaze palsy. Magnetic resonance imaging showed caudate and putamen atrophy. Genetic analysis disclosed 49 triple CAG repeats in allele 1 and 17 in allele 2 ...

  13. Striatal grafts in a rat model of Huntington's disease

    DEFF Research Database (Denmark)

    Guzman, R; Meyer, M; Lövblad, K O;

    1999-01-01

    Survival and integration into the host brain of grafted tissue are crucial factors in neurotransplantation approaches. The present study explored the feasibility of using a clinical MR scanner to study striatal graft development in a rat model of Huntington's disease. Rat fetal lateral ganglionic...... eminences grown as free-floating roller-tube cultures can be successfully grafted in a rat Huntington model and that a clinical MR scanner offers a useful noninvasive tool for studying striatal graft development....

  14. [Olanzapine improves chorea in patients with Huntington's disease].

    Science.gov (United States)

    Jiménez-Jiménez, F J; de Toledo, M; Puertas, I; Barón, M; Zurdo, M; Barcenilla, B

    The main treatment for choreatic movements associated to Huntington s disease are the neuroleptic drugs, however, its use causes long term troubles. We describe two patients with a predominantly choreic Huntington s disease, who experience improvement of choreatic movements after introduction of olanzapine to their treatment, being this drug well tolerated. The improvement of chorea suggests that olanzapine has a dopaminergic D2 receptors blocking action.

  15. A case report of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Anita Choudhary

    2017-09-01

    Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.

  16. Plants and phytochemicals for Huntington's disease.

    Science.gov (United States)

    Choudhary, Sunayna; Kumar, Puneet; Malik, Jai

    2013-07-01

    Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no treatment is available to fully stop the progression of the disease, there are treatments available to help control the chorea. The present review deals with brief pathophysiology of the disease, plants and phytochemicals that have shown beneficial effects against HD like symptoms. The literature for the current review was collected using various databases such as Science direct, Pubmed, Scopus, Sci-finder, Google Scholar, and Cochrane database with a defined search strategy.

  17. The choreography of neuroinflammation in Huntington's disease.

    Science.gov (United States)

    Crotti, Andrea; Glass, Christopher K

    2015-06-01

    Currently, the concept of 'neuroinflammation' includes inflammation associated with neurodegenerative diseases, in which there is little or no infiltration of blood-derived immune cells into the brain. The roles of brain-resident and peripheral immune cells in these inflammatory settings are poorly understood, and it is unclear whether neuroinflammation results from immune reaction to neuronal dysfunction/degeneration, and/or represents cell-autonomous phenotypes of dysfunctional immune cells. Here, we review recent studies examining these questions in the context of Huntington's disease (HD), where mutant Huntingtin (HTT) is expressed in both neurons and glia. Insights into the cellular and molecular mechanisms underlying neuroinflammation in HD may provide a better understanding of inflammation in more complex neurodegenerative disorders, and of the contribution of the neuroinflammatory component to neurodegenerative disease pathogenesis.

  18. Huntington disease: DNA analysis in brazilian population

    Directory of Open Access Journals (Sweden)

    RASKIN SALMO

    2000-01-01

    Full Text Available Huntington disease (HD is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.

  19. Huntington's Disease: Pathogenic Mechanisms and Therapeutic Targets.

    Science.gov (United States)

    Wright, Dean J; Renoir, Thibault; Gray, Laura J; Hannan, Anthony J

    2017-01-01

    Huntington's disease (HD) is a tandem repeat disorder involving neurodegeneration and a complex combination of symptoms. These include psychiatric symptoms, cognitive deficits culminating in dementia, and the movement disorder epitomised by motor signs such as chorea. HD is caused by a CAG repeat expansion encoding an extended tract of the amino acid glutamine in the huntingtin protein. This polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis. In the current review, we will briefly describe these broader aspects of HD pathogenesis, but will then focus on specific aspects where there are substantial bodies of experimental evidence, including oxidative stress, mitochondrial dysfunction, glutamatergic dysfunction and neuroinflammation. Furthermore, we will review recent preclinical therapeutic approaches targeting some of these pathogenic pathways, their clinical implications and future directions.

  20. Huntington's Disease: Relationship Between Phenotype and Genotype.

    Science.gov (United States)

    Sun, Yi-Min; Zhang, Yan-Bin; Wu, Zhi-Ying

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG triplet repeat and the modified factors. Here, we reviewed the recent advancement on the genotype-phenotype relationship of HD, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3' end of CAG triplet repeat and their effects on the phenotype. We also reviewed the special forms of HD (juvenile HD, atypical onset HD, and homozygous HD) and their phenotype-genotype correlations. The review will aid clinicians to predict the onset age and disease course of HD, give the genetic counseling, and accelerate research into the HD mechanism.

  1. Huntington's Disease: Calcium Dyshomeostasis and Pathology Models.

    Science.gov (United States)

    Kolobkova, Y A; Vigont, V A; Shalygin, A V; Kaznacheyeva, E V

    2017-01-01

    Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology. Recent studies have focused on the development of animal and insect HD models, as well as patient-specific induced pluripotent stem cells (HD-iPSCs), to simulate the disease's progression. Despite a sesquicentennial history of HD studies, the issues of diagnosis and manifestation of the disease have remained topical. The present review addresses these issues.

  2. Cerebrospinal Fluid Biomarkers for Huntington's Disease.

    Science.gov (United States)

    Byrne, Lauren M; Wild, Edward J

    2016-01-01

    Cerebrospinal fluid (CSF) is enriched in brain-derived components and represents an accessible and appealing means of interrogating the CNS milieu to study neurodegenerative diseases and identify biomarkers to facilitate the development of novel therapeutics. Many such CSF biomarkers have been proposed for Huntington's disease (HD) but none has been validated for clinical trial use. Across many studies proposing dozens of biomarker candidates, there is a notable lack of statistical power, consistency, rigor and validation. Here we review proposed CSF biomarkers including neurotransmitters, transglutaminase activity, kynurenine pathway metabolites, oxidative stress markers, inflammatory markers, neuroendocrine markers, protein markers of neuronal death, proteomic approaches and mutant huntingtin protein itself. We reflect on the need for large-scale, standardized CSF collections with detailed phenotypic data to validate and qualify much-needed CSF biomarkers for clinical trial use in HD.

  3. Contribution of Neuroepigenetics to Huntington's Disease.

    Science.gov (United States)

    Francelle, Laetitia; Lotz, Caroline; Outeiro, Tiago; Brouillet, Emmanuel; Merienne, Karine

    2017-01-01

    Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington's disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the relationship between epigenetic regulations, gene expression and neuronal activity in normal and diseased neurons, including HD neurons. We propose that cell-type specific techniques and 3D-based methods will advance knowledge of epigenome in the context of brain region vulnerability in neurodegenerative diseases. A better understanding of the mechanisms underlying epigenetic changes and of their consequences in neurodegenerative diseases is required to design therapeutic strategies more effective than current strategies based on histone deacetylase (HDAC) inhibitors. Researches in HD may play a driving role in this process.

  4. Five years of beach drainage survey on a macrotidal beach (Quend-Plage, northern France)

    Science.gov (United States)

    Bain, Olivier; Toulec, Renaud; Combaud, Anne; Villemagne, Guillaume; Barrier, Pascal

    2016-07-01

    A drainage system was installed in 2008 on the macrotidal beach of Quend-Plage, close to Abbeville (Somme, northern France), following a period of significant erosion of recreational areas. The "Direction départementale des territoires et de la mer" (French Coastal Department Authority) has requested a biannual survey in order to validate the beach drainage setup and its efficiency. This paper presents the methodology used for this survey, and the response of the coastal system to this soft engineering method for preventing erosion. These five years of drainage operation have strongly modified the morphology of the beach. Three main modifications occurred: (i) accretion of the upper beach and foredune, (ii) erosion of the lower and middle beach and (iii) a slight shift in directions of the beach bars and troughs. These morphological changes finally led to the stabilization of the beach.

  5. Beach Nourishment and Artificial Surf Reef

    NARCIS (Netherlands)

    Klein, A.H.; De Menezes, J.T.; Sperb, R.S.; Siegle, E.; Fontura, R.; Van de Graaff, J.; Stive, M.J.F.; Van der Schrieck, G.L.M.; Verhagen, H.J.

    2004-01-01

    Balneário Camboriú is a very touristy city in southern Brazil, situated in the five kilometer wide Camboriú Bay. Its main tourist attraction is the beach, which is 5800 m long and rather narrow with a dry width of 10 to 20 m. The city is facing several problems regarding the beach that have a

  6. Beach Nourishment and Artificial Surf Reef

    NARCIS (Netherlands)

    Klein, A.H.; De Menezes, J.T.; Sperb, R.S.; Siegle, E.; Fontura, R.; Van de Graaff, J.; Stive, M.J.F.; Van der Schrieck, G.L.M.; Verhagen, H.J.

    2004-01-01

    Balneário Camboriú is a very touristy city in southern Brazil, situated in the five kilometer wide Camboriú Bay. Its main tourist attraction is the beach, which is 5800 m long and rather narrow with a dry width of 10 to 20 m. The city is facing several problems regarding the beach that have a negati

  7. Beach Nourishment and Artificial Surf Reef

    NARCIS (Netherlands)

    Klein, A.H.; De Menezes, J.T.; Sperb, R.S.; Siegle, E.; Fontura, R.; Van de Graaff, J.; Stive, M.J.F.; Van der Schrieck, G.L.M.; Verhagen, H.J.

    2004-01-01

    Balneário Camboriú is a very touristy city in southern Brazil, situated in the five kilometer wide Camboriú Bay. Its main tourist attraction is the beach, which is 5800 m long and rather narrow with a dry width of 10 to 20 m. The city is facing several problems regarding the beach that have a negati

  8. Stability and safety of Anjuna beach, Goa

    Digital Repository Service at National Institute of Oceanography (India)

    Swamy, G.N.; Varadachari, V.V.R.

    Studies on the Anjuna Beach, Goa, India, from March to December, 1975, show that it is fairly stable though it undergoes seasonal changes and a series of short-term cuts and fills. The beach appears to be quite safe as the longshore currents...

  9. Long Beach's Pivotal Turn around RTI

    Science.gov (United States)

    Elliott, Judy

    2008-01-01

    This article briefly describes the tiered approach to intervention adopted by the Long Beach Unified School District. Long Beach Unified School District is the state's third largest urban school district with more than 90,000 students, 84 percent of whom are minority and 68 percent of whom qualify for free and reduced price lunch, and where over…

  10. Monitoring beach changes using GPS surveying techniques

    Science.gov (United States)

    Morton, Robert; Leach, Mark P.; Paine, Jeffrey G.; Cardoza, Michael A.

    1993-01-01

    A need exists for frequent and prompt updating of shoreline positions, rates of shoreline movement, and volumetric nearshore changes. To effectively monitor and predict these beach changes, accurate measurements of beach morphology incorporating both shore-parallel and shore-normal transects are required. Although it is possible to monitor beach dynamics using land-based surveying methods, it is generally not practical to collect data of sufficient density and resolution to satisfy a three-dimensional beach-change model of long segments of the coast. The challenge to coastal scientists is to devise new beach monitoring methods that address these needs and are rapid, reliable, relatively inexpensive, and maintain or improve measurement accuracy.

  11. Quantitative 7T phase imaging in premanifest Huntington disease.

    Science.gov (United States)

    Apple, A C; Possin, K L; Satris, G; Johnson, E; Lupo, J M; Jakary, A; Wong, K; Kelley, D A C; Kang, G A; Sha, S J; Kramer, J H; Geschwind, M D; Nelson, S J; Hess, C P

    2014-09-01

    In vivo MR imaging and postmortem neuropathologic studies have demonstrated elevated iron concentration and atrophy within the striatum of patients with Huntington disease, implicating neuronal loss and iron accumulation in the pathogenesis of this neurodegenerative disorder. We used 7T MR imaging to determine whether quantitative phase, a measurement that reflects both iron content and tissue microstructure, is altered in subjects with premanifest Huntington disease. Local field shift, calculated from 7T MR phase images, was quantified in 13 subjects with premanifest Huntington disease and 13 age- and sex-matched controls. All participants underwent 3T and 7T MR imaging, including volumetric T1 and 7T gradient recalled-echo sequences. Local field shift maps were created from 7T phase data and registered to caudate ROIs automatically parcellated from the 3T T1 images. Huntington disease-specific disease burden and neurocognitive and motor evaluations were also performed and compared with local field shift. Subjects with premanifest Huntington disease had smaller caudate volume and higher local field shift than controls. A significant correlation between these measurements was not detected, and prediction accuracy for disease state improved with inclusion of both variables. A positive correlation between local field shift and genetic disease burden was also found, and there was a trend toward significant correlations between local field shift and neurocognitive tests of working memory and executive function. Subjects with premanifest Huntington disease exhibit differences in 7T MR imaging phase within the caudate nuclei that correlate with genetic disease burden and trend with neurocognitive assessments. Ultra-high-field MR imaging of quantitative phase may be a useful approach for monitoring neurodegeneration in premanifest Huntington disease. © 2014 by American Journal of Neuroradiology.

  12. Dynamics of Shengjini beach (Albania)

    Science.gov (United States)

    Gashi, Ferim; Nikolli, Pal

    2015-04-01

    Dynamics of Shengjini beach (Albania) Pal Nikolli , Ferim GASHI Through archaeological and historical data, presentations of ancient topographic, cartographic materials (topographic maps obtained at different periods from 1870 to 1990), aerial photographs (2007), satellite images (2014) and direct measurements, paper defines and analyzes the position of the coastline of Shengjini beach (Lezha) from century XVI until today. The coastline of the Shengjini city (port) to Drin River estuary is oriented north-south direction and is approximately 10.5 km long. This part of the coast is sandy and sediment comes mainly from the River Drin and distributed by currents along the coast. In this paper are make provision for the position of the coastline in the future and analyzed the possibilities of human intervention in the coastal environment , etc. This work forms the basis for the issuance of necessary data required for various projections at the coastal environment Shëngjini. Results of this study will have a significant impact on state policies for integrated management of the coastal zone in the study and development of tourism. Key words: GIS, Remonte Sennsing, cartography, management of coastal zone, tourism, environment.

  13. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.

    NARCIS (Netherlands)

    Cubo, E.; Gonzalez, M.; Puerto, I. del; Yebenes, J.G. de; Arconada, O.F.; Gabriel y Galan, J.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de

    2012-01-01

    BACKGROUND: Classically, clinical trials are based on the placebo-control design. Our aim was to analyze the placebo effect in Huntington's disease. METHODS: Placebo data were obtained from an international, longitudinal, placebo-controlled trial for Huntington's disease (European Huntington's Disea

  14. 75 FR 33617 - Notice of Proposed Settlement Agreement and Opportunity for Public Comment: West Huntington Spill...

    Science.gov (United States)

    2010-06-14

    ... AGENCY Notice of Proposed Settlement Agreement and Opportunity for Public Comment: West Huntington Spill... United States Department of Justice on behalf of EPA, in connection with the West Huntington Spill Site, Huntington, West Virginia (``Site''). DATES: Written comments on the proposed settlement agreement must...

  15. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.

    NARCIS (Netherlands)

    Cubo, E.; Gonzalez, M.; Puerto, I. del; Yebenes, J.G. de; Arconada, O.F.; Gabriel y Galan, J.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de

    2012-01-01

    BACKGROUND: Classically, clinical trials are based on the placebo-control design. Our aim was to analyze the placebo effect in Huntington's disease. METHODS: Placebo data were obtained from an international, longitudinal, placebo-controlled trial for Huntington's disease (European Huntington's

  16. Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

    DEFF Research Database (Denmark)

    Dale, Maria; Maltby, John; Shimozaki, Steve

    2016-01-01

    OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington...

  17. Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia

    Science.gov (United States)

    Akbarian, S.; Smith, M. A.; Jones, E. G.; Bloom, F. E. (Principal Investigator)

    1995-01-01

    Animal studies and cell culture experiments demonstrated that posttranscriptional editing of the transcript of the GluR-2 gene, resulting in substitution of an arginine for glutamine in the second transmembrane region (TM II) of the expressed protein, is associated with a reduction in Ca2+ permeability of the receptor channel. Thus, disturbances in GluR-2 RNA editing with alteration of intracellular Ca2+ homeostasis could lead to neuronal dysfunction and even neuronal degeneration. The present study determined the proportions of edited and unedited GluR-2 RNA in the prefrontal cortex of brains from patients with Alzheimer's disease, in the striatum of brains from patients with Huntington's disease, and in the same areas of brains from age-matched schizophrenics and controls, by using reverse transcriptase-polymerase chain reaction, restriction endonuclease digestion, gel electrophoresis and scintillation radiometry. In the prefrontal cortex of controls, 99.9% were edited; in the prefrontal cortex both of schizophrenics and of Alzheimer's patients approximately 1.0% of all GluR-2 RNA molecules were unedited and 99% were edited. In the striatum of controls and of schizophrenics, approximately 0.5% of GluR-2 RNA molecules were unedited and 99.5% were edited; in the striatum of Huntington's patients nearly 5.0% of GluR-2 RNA was unedited. In the prefrontal white matter of controls, approximately 7.0% of GluR-2 RNA was unedited. In the normal human prefrontal cortex and striatum, the large majority of GluR-2 RNA molecules contains a CGG codon for arginine in the TMII coding region; this implies that the corresponding AMPA receptors have a low Ca2+ permeability, as previously demonstrated for the rat brain. The process of GluR-2 RNA editing is compromised in a region-specific manner in schizophrenia, in Alzheimer's disease and Huntington's Chorea although in each of these disorders there is still a large excess of edited GluR-2 RNA molecules. Disturbances of GluR-2 RNA

  18. 77 FR 276 - Combined Notice of Filings #1

    Science.gov (United States)

    2012-01-04

    ..., LLC, AES Redondo Beach, L.L.C., Condon Wind Power, LLC, AES Huntington Beach LLC, AES Armenia Mountain... Applicants: AES Huntington Beach, L.L.C. Description: AES Huntington Beach Tariff Filing to be effective...

  19. Were the 1952 Kern County and 1933 Long Beach, California, Earthquakes Induced?

    Science.gov (United States)

    Hough, S. E.; Tsai, V. C.; Walker, R. L., II; Page, M. T.; Aminzadeh, F.

    2016-12-01

    Several recent studies have presented evidence that significant induced earthquakes occurred in a number of regions during the 20th century related to either production or early wastewater injection. We consider whether the Mw6.4 Long Beach and Mw7.3 1952 Kern County earthquakes might have been induced by production in the Huntington Beach and Wheeler Ridge oil fields, respectively. The Long Beach earthquake occurred within 9 months of the start of directional drilling that first exploited offshore tideland reserves at depths of ≈1200 m; the well location was within ≈3 km of the event epicenter. The Kern County earthquake occurred 111 days following the first exploitation of deep Eocene production horizons within the Wheeler Ridge field at depths reaching 3 km, within ≈1 km of the White Wolf fault (WWF); the epicenter of this earthquake is poorly constrained but the preferred epicenter is within ≈7 km of the well. While production in the Wheeler Ridge field would have reduced pore pressure, likely inhibiting failure on the WWF assuming a Coulomb failure criteria, we present a model based on analytical solutions with model parameters constrained from detailed industry data, whereby direct pore pressure effects were blocked by a normal fault that created an impermeable barrier close to the WWF, allowing the normal stress change associated with production to dominate, thereby promoting failure by unclamping the fault. Our proposed triggering mechanism is consistent with the observation that significant earthquakes are only rarely induced by production in proximity to major faults. Our results also suggest that significant induced earthquakes in southern California during the early 20th century might have been associated with industry practices that are no longer employed (i.e., production without water re-injection). The occurrence of significant earthquakes during the earthquake 20th century therefore does not necessarily imply a high likely of induced

  20. Huntington's disease: from molecular pathogenesis to clinical treatment.

    Science.gov (United States)

    Ross, Christopher A; Tabrizi, Sarah J

    2011-01-01

    Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein. Huntington's disease has served as a model for the study of other more common neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. These disorders all share features including: delayed onset; selective neuronal vulnerability, despite widespread expression of disease-related proteins during the whole lifetime; abnormal protein processing and aggregation; and cellular toxic effects involving both cell autonomous and cell-cell interaction mechanisms. Pathogenic pathways of Huntington's disease are beginning to be unravelled, offering targets for treatments. Additionally, predictive genetic testing and findings of neuroimaging studies show that, as in some other neurodegenerative disorders, neurodegeneration in affected individuals begins many years before onset of diagnosable signs and symptoms of Huntington's disease, and it is accompanied by subtle cognitive, motor, and psychiatric changes (so-called prodromal disease). Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset.

  1. Investigational agents for the management of Huntington's disease.

    Science.gov (United States)

    Müller, Thomas

    2017-02-01

    An inherited, chronic progressive, neurodegenerative disorder is Huntington's disease, characterized by motor, cognitive, and psychiatric symptoms. Predictive genetic testing allows earlier diagnosis and identification of gene carriers for Huntington's disease. These individuals are ideal candidates for testing of therapeutic interventions for disease modification. Areas covered: According to queries in Pubmed, Embase and clinical register databases, research and clinical studies emerge on symptomatic and neuroprotective therapies in Huntington's disease. This review discusses novel agents for symptomatic therapy and disease modification. They are currently in phase I and II of drug development Expert opinion: There are promising, safe and well tolerated compounds for amelioration of motor and neuropsychiatric symptoms, but their efficacy still needs to be proven in clinical trials. Deterioration of mutant huntingtin expression, antiapoptotic or cell death inhibition as disease modifying concepts was efficacious in models of Huntington's disease. However, the risk for clinical trial failures is high not only due to ineffectiveness of the tested agent. Negative study outcomes may also result from design misconceptions, underestimation of the heterogeneity of Huntington's disease, too short study durations and too small study cohorts.

  2. Beach Advisory and Closing Online Notification (BEACON) system

    Science.gov (United States)

    Beach Advisory and Closing Online Notification system (BEACON) is a colletion of state and local data reported to EPA about beach closings and advisories. BEACON is the public-facing query of the Program tracking, Beach Advisories, Water quality standards, and Nutrients database (PRAWN) which tracks beach closing and advisory information.

  3. Single sperm analysis of the trinucleotide repeat in the Huntington`s disease gene

    Energy Technology Data Exchange (ETDEWEB)

    Leeflang, E.P.; Zhang, L.; Hubert, R. [Univ. of Southern California, Los Angeles, CA (United States)] [and others

    1994-09-01

    Huntington`s disease (HD) is one of several genetic diseases caused by trinucleotide repeat expansion. The CAG repeat is very unstable, with size changes occurring in more than 80% of transmissions. The degree of instability of this repeat in the male germline can be determined by analysis of individual sperm cells. An easy and sensitive PCR assay has been developed to amplify this trinucleotide repeat region from single sperm using two rounds of PCR. As many as 90% of the single sperm show amplification for the HD repeat. The PCR product can be easily detected on an ethidium bromide-stained agarose gel. Single sperm samples from an HD patient with 18 and 49 repeats were studied. We observed size variations for the expanded alleles while the size of the normal allele in sperm is very consistent. We did not detect any significant bias in the amplification of normal alleles over the larger HD alleles. Our preliminary study supports the observation made by PCR of total sperm that instability of the HD trinucleotide repeat occurs in the germline. HD preimplantation diagnosis on single embryo blastomeres may also possible.

  4. 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

    Science.gov (United States)

    Baig, Sheharyar S; Strong, Mark; Rosser, Elisabeth; Taverner, Nicola V; Glew, Ruth; Miedzybrodzka, Zosia; Clarke, Angus; Craufurd, David; Quarrell, Oliver W

    2016-10-01

    Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since 1993. The UK Huntington's Prediction Consortium has collected anonymised data on UK predictive tests, annually, from 1993 to 2014: 9407 predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for predictive testing was to reduce uncertainty (70.5%). Of the 8441 predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10(-5), the cumulative uptake of predictive testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9-18.0%). We present the largest study conducted on predictive testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone predictive testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.

  5. A study on the trinucleotide repeat associated with Huntington`s disease in the Chinese

    Energy Technology Data Exchange (ETDEWEB)

    Bing-wen Soong; Jih-tsuu Wang [Neurological Institute, Taipei (Taiwan, Province of China)

    1994-09-01

    Analysis of the polymorphic (CAG)n repeat in the hungingtin gene in the chinese confirmed the presence of an expanded repeat on all Huntington`s disease chromosomes. Measurement of the specific CAG repeat sequence in 34 HD chromosomes from 15 unrelated families and 190 control chromosomes from the Chinese population showed a range from 9 to 29 repeats in normal subjects and 40 to 58 in affected subjects. The size distributions of normal and affected alleles did not overlap. A clear correlation bewteen early onset of symptoms and very high repeat number was seen, but the spread of the age-at-onset in the major repeat range producing characteristic HD it too wide to be of diagnostic value. There was also variability in the transmitted repeat size for both sexes in the HD size range. Maternal HD alleles showed a moderate instability with a preponderance of size decrease, while paternal HD alleles had a tendency to increase in repeat size on transmission, the degree of which appeared proportional to the initial size.

  6. The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population.

    Science.gov (United States)

    Baine, Fiona K; Krause, Amanda; Greenberg, L Jacquie

    2016-01-01

    Huntington disease (HD) has most recently been estimated to affect between 10.6 and 13.7 per 100,000 individuals in European populations. However, prevalence is known to differ geographically. In South Africa, the only published estimates are from a survey performed in the 1970s, an era when the disease was believed to be rare or absent in black individuals and molecular confirmation was absent. The disease phenotype in South Africa is currently attributable to mutations in both the huntington and junctophilin-3 genes, which underlie the well-known HD and the rarer HD-like 2 (HDL2) respectively. This study aimed at providing improved minimum estimates of disease frequency in South Africa, based on molecular genetic testing data. A review of all testing records for HD and HDL2 over a 20-year period was undertaken. HDL2 is virtually indistinguishable on clinical features, thus necessitating its inclusion. Based on molecular diagnostic records, minimum estimates of disease frequency are: 5.1, 2.1 and 0.25 (per 100,000 individuals) for the white, mixed ancestry and black population groups respectively. Although ascertainment remains incomplete, these minimum estimates suggest that disease frequencies are significantly higher than those previously reported in South Africa. © 2016 S. Karger AG, Basel.

  7. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

    Directory of Open Access Journals (Sweden)

    Guimarães João

    2006-02-01

    Full Text Available Abstract Background Huntington's disease (HD is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleotide repeats. A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease.

  8. 78 FR 33969 - Special Local Regulations; Daytona Beach Grand Prix of the Sea, Atlantic Ocean; Daytona Beach, FL

    Science.gov (United States)

    2013-06-06

    ... SECURITY Coast Guard 33 CFR Part 100 RIN 1625-AA08 Special Local Regulations; Daytona Beach Grand Prix of the Sea, Atlantic Ocean; Daytona Beach, FL AGENCY: Coast Guard, DHS. ACTION: Temporary final rule... east of Daytona Beach, Florida, during the Daytona Beach Grand Prix of the Sea, a series of...

  9. 75 FR 24997 - FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Environmental Assessment...

    Science.gov (United States)

    2010-05-06

    ... From the Federal Register Online via the Government Publishing Office NUCLEAR REGULATORY COMMISSION FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Environmental Assessment... Energy Point Beach, LLC (the licensee), for operation of the Point Beach Nuclear Plant, Units 1 and 2...

  10. Morphology and composition of beach-cast Posidonia oceanica litter on beaches with different exposures

    Science.gov (United States)

    Simeone, Simone; De Falco, Giovanni

    2012-05-01

    Posidonia oceanica seagrass litter is commonly found along sandy shores in the Mediterranean region, forming structures called banquettes, which are often removed in order to allow the beach to be used for tourism. This paper evaluates the relationship between the morphology and composition of banquettes and beach exposure to dominant waves. A Real Time Kinematic Differential Global Positioning System was used to evaluate the variability of banquettes and beach morphology over a period of 1 year. Banquette samples, collected at two different levels of the beach profile (i.e. foreshore and backshore), were used to evaluate the contribution of leaves, rhizomes and sediments to the total weight. Banquettes showed a higher volume, thickness and cross-shore length on exposed beaches, whereas narrower litter deposits were found on the sheltered beach. On exposed beaches, banquettes were deposited in beach zones characterized by changes in elevation. These changes in elevation were mainly due to the deposition and erosion of sediments and secondly to the deposition and or erosion of leaf litter. On sheltered beaches, the variability in beach morphology was low and was restricted to areas where the banquettes were located. The leaf/sediment ratio changed along the cross-shore profile. On the backshore, banquettes were a mixture of sediments and leaves, whereas leaves were the main component on the foreshore, independently of the beach exposure. The processes which control the morphodynamics in the swash zone could explain the variability of banquette composition along the cross-shore profile. Finally, this study highlighted that Posidonia oceanica seagrass litter plays an important role in the geomorphology of the beachface and its removal can have a harmful impact on the beaches.

  11. Morphodynamics of a mesotidal rocky beach: Palmeras beach, Gorgona Island National Natural Park, Colombia

    Science.gov (United States)

    Gómez-García, A. M.; Bernal, G. R.; Osorio, A. F.; Botero, V.

    2014-10-01

    The response of a rocky beach to different possible combinations of hydrodynamic conditions (tides, waves, oceanic currents) has been little studied. In this work, the morphodynamic response to different hydrodynamic forcing is evaluated from sedimentological and geomorphological analysis in seasonal and medium term (19 years) scale in Palmeras beach, located in the southwest of Gorgona Island National Natural Park (NNP), a mesotidal rocky island on the Colombian Pacific continental shelf. Palmeras is an important nesting area of two types of marine turtles, with no anthropogenic stress. In the last years, coastal erosion has reduced the beach width, restricting the safe areas for nesting and conservation of these species. Until now, the sinks, sources, reservoirs, rates, and paths of sediments were unknown, as well as their hydrodynamic forcing. The beach seasonal variability, from October 2010 to August 2012, was analyzed based on biweekly or monthly measurements of five beach profiles distributed every 200 m along the 1.2 km of beach length. The main paths for sediment transport were defined from the modeling of wave currents with the SMC model (Coastal Modeling System), as well as the oceanic currents, simulated for the dry and wet seasons of 2011 using the ELCOM model (Estuary and Lake COmputer Model). Extreme morphologic variations over a time span of 19 years were analyzed with the Hsu and Evans beach static equilibrium parabolic model, from one wave diffraction point which dominates the general beach plan shape. The beach lost 672 m3/m during the measuring period, and erosional processes were intensified during the wet season. The beach trends responded directly to a wave mean energy flux change, resulting in an increase of up to 14 m in the width northward and loss of sediments in the beach southward. This study showed that to obtain the integral morphodynamic behavior of a rocky beach it is necessary to combine information of hydrodynamic, sedimentology

  12. Exclusion testing in pregnancy for Huntington's disease.

    Science.gov (United States)

    Tyler, A; Quarrell, O W; Lazarou, L P; Meredith, A L; Harper, P S

    1990-01-01

    The results of DNA analysis are presented for a series of 90 couples, with one partner at 50% risk for Huntington's disease (HD), who were referred for exclusion testing in pregnancy over a three year period. Thirty-seven couples were studied in detail. The aims of the study were to evaluate attitudes towards prenatal testing, before pregnancy and afterwards, and the effectiveness of our counseling and methods of organising the service. Problems which could arise in relation to presymptomatic testing are documented. It is concluded that exclusion testing is a valuable form of prediction for some couples, particularly where family structure does not permit prediction for the person at risk. The need for intensive counselling was highlighted by the difficulties experienced by many couples in understanding how the test worked. Particular ethical and organisational problems may arise which require careful consideration beforehand and some recommendations are made. The proportion of couples who will continue to request exclusion testing as pre-symptomatic testing becomes more widely applicable remains unknown. PMID:2145437

  13. Cell-based technologies for Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mônica Santoro Haddad

    Full Text Available ABSTRACT Huntington's disease (HD is a fatal genetic disorder, which causes the progressive breakdown of neurons in the human brain. HD deteriorates human physical and mental abilities over time and has no cure. Stem cell-based technologies are promising novel treatments, and in HD, they aim to replace lost neurons and/or to prevent neural cell death. Herein we discuss the use of human fetal tissue (hFT, neural stem cells (NSCs of hFT origin or embryonic stem cells (ESCs and induced pluripotent stem cells (IPSCs, in clinical and pre-clinical studies. The in vivo use of mesenchymal stem cells (MSCs, which are derived from non-neural tissues, will also be discussed. All these studies prove the potential of stem cells for transplantation therapy in HD, demonstrating cell grafting and the ability to differentiate into mature neurons, resulting in behavioral improvements. We claim that there are still many problems to overcome before these technologies become available for HD patient treatment, such as: a safety regarding the use of NSCs and pluripotent stem cells, which are potentially teratogenic; b safety regarding the transplantation procedure itself, which represents a risk and needs to be better studied; and finally c technical and ethical issues regarding cells of fetal and embryonic origin.

  14. Comprehension of prosody in Huntington's disease.

    Science.gov (United States)

    Speedie, L J; Brake, N; Folstein, S E; Bowers, D; Heilman, K M

    1990-07-01

    Patients with Huntington's Disease (HD) who were without dementia were compared to unilateral stroke patients and controls as previously reported in 1983, to discover if they had a prosodic defect. Subjects were presented tape-recorded speech filtered sentences and asked to indicate the tone of voice as happy, sad or angry (affective prosody), or as a question, command or statement (propositional prosody). HD patients were impaired in comprehension of both types of prosody compared to controls but were not different from stroke patients. A second study compared early HD patients with at-risk siblings and spouse controls on comprehension of affective and propositional prosody, discrimination of both types of prosody, rhythm discrimination and tonal memory (Seashore tests). HD patients were impaired in both comprehension and discrimination of all types of prosody. HD patients were less accurate than at-risk patients on the tonal memory task but not on the rhythm discrimination task. These findings suggest compromise in ability to understand the more subtle prosodic aspects of communication which may contribute to social impairment of HD patients very early in the course of the disease.

  15. Hypothalamic-endocrine aspects in Huntington's disease.

    Science.gov (United States)

    Petersén, Asa; Björkqvist, Maria

    2006-08-01

    Huntington's disease (HD) is a hereditary and fatal disorder caused by an expanded CAG triplet repeat in the HD gene, resulting in a mutant form of the protein huntingtin. Wild-type and mutant huntingtin are expressed in most tissues of the body but the normal function of huntingtin is not fully known. In HD, the neuropathology is characterized by intranuclear and cytoplasmic inclusions of huntingtin aggregates, and cell death primarily in striatum and cerebral cortex. However, hypothalamic atrophy occurs at early stages of HD with loss of orexin- and somatostatin-containing cell populations. Several symptoms of HD such as sleep disturbances, alterations in circadian rhythm, and weight loss may be due to hypothalamic dysfunction. Endocrine changes including increased cortisol levels, reduced testosterone levels and increased prevalence of diabetes are found in HD patients. In HD mice, alterations in the hypothalamic-pituitary-adrenal axis occurs as well as pancreatic beta-cell and adipocyte dysfunction. Increasing evidence points towards important pathology of the hypothalamus and the endocrine system in HD. As many neuroendocrine factors are secreted into the cerebrospinal fluid, blood and urine, it is possible that their levels may reflect the disease state in the central nervous system. Investigating neuroendocrine changes in HD opens up the possibility of finding biomarkers to evaluate future therapies for HD, as well as of identifying novel targets for therapeutic interventions.

  16. DNA instability in replicating Huntington's disease lymphoblasts

    Directory of Open Access Journals (Sweden)

    Frati Luigi

    2009-02-01

    Full Text Available Abstract Background The expanded CAG repeat in the Huntington's disease (HD gene may display tissue-specific variability (e.g. triplet mosaicism in repeat length, the longest mutations involving mitotic (germ and glial cells and postmitotic (neurons cells. What contributes to the triplet mutability underlying the development of HD nevertheless remains unknown. We investigated whether, besides the increased DNA instability documented in postmitotic neurons, possible environmental and genetic mechanisms, related to cell replication, may concur to determine CAG repeat mutability. To test this hypothesis we used, as a model, cultured HD patients' lymphoblasts with various CAG repeat lengths. Results Although most lymphoblastoid cell lines (88% showed little or no repeat instability even after six or more months culture, in lymphoblasts with large expansion repeats beyond 60 CAG repeats the mutation size and triplet mosaicism always increased during replication, implying that the repeat mutability for highly expanded mutations may quantitatively depend on the triplet expansion size. None of the investigated genetic factors, potentially acting in cis to the mutation, significantly influence the repeat changes. Finally, in our experiments certain drugs controlled triplet expansion in two prone-to-expand HD cell lines carrying large CAG mutations. Conclusion Our data support quantitative evidence that the inherited CAG length of expanded alleles has a major influence on somatic repeat variation. The longest triplet expansions show wide somatic variations and may offer a mechanistic model to study triplet drug-controlled instability and genetic factors influencing it.

  17. Genetic diagnosis of Huntington's disease: cases report

    Institute of Scientific and Technical Information of China (English)

    Liao Ting-ting; Wu Wei; Wan Qi; Cui Yu-gui; Liu Jia-yin

    2011-01-01

    Objective:To assess the efficiency of the PCR combined DNA sequencing to ascertain CAG repeat size of Huntington's disease(HD)gene as for gene diagnosis of HD.Method:Three patients with HD were diagnosed genetically with the technology of polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis by assessing the CAG repeat size of HD gene.DNA sequencing then was used as verification test for HD gene.Results:Nine members of three nuclear families were included in this study,three patients were HD proband.In those families,CAG repeats of all spouse of propositus were in normal range.CAG repeats of all propositus and their descendants with the normal allele were in normal range,while CAG copy number of the other mobigenous allele was obviously abnormal.Conclusion:PCR combined DNA sequencing can be used to effectively ascertain CAG repeat of HD gene.CAG-repeat expansion mutations were accounted for 99% of HD cases,so HD can be accurately diagnosed by this method.

  18. Genetic Testing for Huntington's Disease in Parkinsonism.

    Science.gov (United States)

    Rahman, M S; Nagai, Y; Popiel, H A; Fujikake, N; Okamoto, Y; Ahmed, M U; Islam, M A; Islam, M T; Ahmed, S; Rahman, K M; Uddin, M J; Dey, S K; Ahmed, Q; Hossain, M A; Jahan, N; Toda, T

    2010-10-01

    The study was conducted to find out Huntington's disease (HD) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College & Hospital. A sample of about 5ml blood was collected by veni puncture in EDTA tube with informed consent from 9 patients & 7 healthy individuals after approval of the institutional ethics committee for genetic study. The neurological disorder along with a complete history and physical findings were recorded in a prescribed questionnaire by the neurologists of Mymensingh Medical College & Hospital. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat in the 1T15 gene was performed with primers HD1 and HD3. HD PCR products revealed the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and suspected PD patient DNA.

  19. Pridopidine for the treatment of Huntington's disease.

    Science.gov (United States)

    Shannon, Kathleen M

    2016-01-01

    Huntington's disease is a rare dominantly-inherited neurodegenerative disease with motor, cognitive and behavioral manifestations. It results from an expanded unstable trinucleotide repeat in the coding region of the huntingtin gene. Treatment is symptomatic, but a poor evidence baseguides selection of therapeutic agents. Non-choreic derangements in voluntary movement contribute to overall motor disability and are poorly addressed by current therapies. Pridopidine is a novel agent in the dopidine class believed to have 'state dependent' effects at dopamine receptors, thus show promise in the treatment of these disorders of voluntary movement. This review discusses the pharmacokinetics and pharmacodynamics of pridopidine and reviews clinical trials supporting development of the drug for HD. This information was culled from literature searches for dopidines, pridopidine, and HD experimental therapeutics in PubMed and at http://www.clinicaltrials.org . There is a compelling need to discover new treatments for motor disability in HD, particularly for non-choreic motor symptoms. While pridopidine failed to achieve its primary efficacy outcomes in 2 large trials, reproducible effects on secondary motor outcomes have fueled an ongoing trial studying higher doses and more focused clinical endpoints. This and phase III trials will define define the utility of pridopidine for HD.

  20. Lessons Learned from the Transgenic Huntington's Disease Rats

    Directory of Open Access Journals (Sweden)

    Rinske Vlamings

    2012-01-01

    Full Text Available Huntington's disease (HD is a fatal inherited disorder leading to selective neurodegeneration and neuropsychiatric symptoms. Currently, there is no treatment to slow down or to stop the disease. There is also no therapy to effectively reduce the symptoms. In the investigation of novel therapies, different animal models of Huntington's disease, varying from insects to nonhuman primates, have been created and used. Few years ago, the first transgenic rat model of HD, carrying a truncated huntingtin cDNA fragment with 51 CAG repeats under control of the native rat huntingtin promoter, was introduced. We have been using this animal model in our research and review here our experience with the behavioural, neurophysiological, and histopathological phenotype of the transgenic Huntington's disease rats with relevant literature.

  1. Variation within the Huntington's disease gene influences normal brain structure.

    Directory of Open Access Journals (Sweden)

    Mark Mühlau

    Full Text Available Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human brain structure. In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based morphometry. We found an increase of GM with increasing long CAG repeat and its interaction with age within the pallidum, which is involved in Huntington's disease. Our study demonstrates that a certain trinucleotide repeat influences normal brain structure in humans. This result may have important implications for the understanding of both the healthy and diseased brain.

  2. Long-term effects of beach nourishment on intertidal invertebrates

    OpenAIRE

    Wooldridge, Tyler Brock

    2015-01-01

    Although beach nourishment is an increasingly popular means to remediate coastal erosion, no consensus exists regarding how long nourishment affects sandy beach intertidal invertebrates, key components of sandy beach ecosystems. We monitored the intertidal invertebrate community for fifteen months following a nourishment project at eight beaches across San Diego County. Each beach was split into nourished and control sections. Nearly all taxa showed major declines in abundance immediately fol...

  3. Effects of beach replenishment on intertidal invertebrates: A 15-month, eight beach study.

    Science.gov (United States)

    Wooldridge, Tyler; Henter, Heather J.; Kohn, Joshua R.

    2016-06-01

    Beach replenishment is an increasingly popular means to remediate coastal erosion, but no consensus exists regarding how long replenishment affects sandy beach intertidal invertebrates, key components of beach ecosystems. We monitored the intertidal invertebrate community for fifteen months following a replenishment project at eight beaches, each with replenished and control sections, across San Diego County. Nearly all taxa showed major declines in abundance immediately following replenishment. Populations of talitrid amphipods and the bean clam Donax gouldii recovered within one year, sooner than in previous studies. On some beaches, populations of the mole crab Emerita analoga bloomed four months after replenishment and were more numerous on replenished portions of beaches at that time. Mole crab populations subsequently declined and no longer differed by treatment. The polychaete community, composed of Scolelepis sp. and several other numerically important taxa, showed a strong replenishment-induced reduction in abundance that persisted through the end of the study. The large negative effect of replenishment on polychaetes, coupled with their overall importance to the invertebrate community, resulted in a more than twofold reduction in overall invertebrate abundance on replenished beaches at 15 months. Such reductions may have far reaching consequences for sandy beach ecosystems, as community declines can reduce prey availability for shorebirds and fish. As this and other recent studies have revealed longer times for the recovery of intertidal invertebrates than previously observed, longer study periods and more cautious estimates regarding the magnitude, variability, and duration of impacts of beach replenishment for management decision-making are warranted.

  4. Beach Nourishment History (1920s to 2000)

    Data.gov (United States)

    California Department of Resources — This is a dataset of beach nourishment history for the California Coastline from the 1920s to 2000. The original data was in tabular form (an Excel spreadsheet) and...

  5. Habitat--Offshore of Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents the habitat map of the seafloor (see sheet 7) offshore of Refugio Beach, California (vector data file is included in...

  6. Studies on beach changes at Visakhapatnam

    Digital Repository Service at National Institute of Oceanography (India)

    Chandramohan, P.; Rao, T.V.N.; Rao, D.P.

    experiences erosion during southwest monsoon and deposition during northeast monsoon and calm weather period. The annual sediment loss of about 75,000 cubic metres during the study period indicates the net erosional trend of the Visakhapatnam Beach and also...

  7. Folds--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents folds for the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is...

  8. Contours--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents bathymetric contours for several seafloor maps of Offshore Refugio Beach, California (vector data file is included in...

  9. Faults--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents folds for the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is...

  10. Beach Nourishment History (1920s to 2000)

    Data.gov (United States)

    California Department of Resources — This is a dataset of beach nourishment history for the California Coastline from the 1920s to 2000. The original data was in tabular form (an Excel spreadsheet) and...

  11. Folds--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents folds for the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is...

  12. Faults--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents folds for the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is...

  13. Tetrabenazine is neuroprotective in Huntington's disease mice

    Directory of Open Access Journals (Sweden)

    Tang Tie-Shan

    2010-04-01

    Full Text Available Abstract Background Huntington's disease (HD is a neurodegenerative disorder caused by a polyglutamine (polyQ expansion in Huntingtin protein (Htt. PolyQ expansion in Httexp causes selective degeneration of striatal medium spiny neurons (MSN in HD patients. A number of previous studies suggested that dopamine signaling plays an important role in HD pathogenesis. A specific inhibitor of vesicular monoamine transporter (VMAT2 tetrabenazine (TBZ has been recently approved by Food and Drug Administration for treatment of HD patients in the USA. TBZ acts by reducing dopaminergic input to the striatum. Results In previous studies we demonstrated that long-term feeding with TBZ (combined with L-Dopa alleviated the motor deficits and reduced the striatal neuronal loss in the yeast artificial chromosome transgenic mouse model of HD (YAC128 mice. To further investigate a potential beneficial effects of TBZ for HD treatment, we here repeated TBZ evaluation in YAC128 mice starting TBZ treatment at 2 months of age ("early" TBZ group and at 6 months of age ("late" TBZ group. In agreement with our previous studies, we found that both "early" and "late" TBZ treatments alleviated motor deficits and reduced striatal cell loss in YAC128 mice. In addition, we have been able to recapitulate and quantify depression-like symptoms in TBZ-treated mice, reminiscent of common side effects observed in HD patients taking TBZ. Conclusions Our results further support therapeutic value of TBZ for treatment of HD but also highlight the need to develop more specific dopamine antagonists which are less prone to side-effects.

  14. Everyday cognition in prodromal Huntington disease.

    Science.gov (United States)

    Williams, Janet K; Kim, Ji-In; Downing, Nancy; Farias, Sarah; Harrington, Deborah L; Long, Jeffrey D; Mills, James A; Paulsen, Jane S

    2015-03-01

    Assessment of daily functions affected by cognitive loss in prodromal Huntington's disease (HD) is necessary in practice and clinical trials. We evaluated baseline and longitudinal sensitivity of the Everyday Cognition (ECog) scales in prodromal HD and compared self- and companion-ratings. Everyday cognition was self-assessed by 850 participants with prodromal HD and 768 companions. We examined internal structure using confirmatory factor analysis (CFA) on baseline data. For longitudinal analysis, we stratified participants into Low, Medium, and High disease progression groups. We examined ECog scores for group differences and participant-and-companion differences using linear mixed effects regression (LMER). Comparison with the Total Functional Capacity (TFC) scale was made. CFA revealed good fit of a 5-factor model having a global factor (total score), and subfactors (subscales) of memory, language, visuospatial perception, and executive function. At study entry, participants and companions in the Medium and High groups reported significantly worsened everyday cognition as well as significant functional decline over time. Losses became more pronounced and participant and companion ratings diverged as individuals progressed. TFC showed significant functional loss over time in the High group but not in the Medium group. Disease progression is associated with reduced self- and companion-reported everyday cognition in prodromal HD participants who are less than 13 years to estimated motor onset. Our findings suggest companion ratings are more sensitive than participants' for detecting longitudinal change in daily cognitive function. ECog appears more sensitive to specific functional changes in the prodrome of HD than the TFC. PsycINFO Database Record (c) 2015 APA, all rights reserved.

  15. An holistic approach to beach erosion vulnerability assessment.

    Science.gov (United States)

    Alexandrakis, George; Poulos, Serafim Ε

    2014-08-15

    Erosion is a major threat for coasts worldwide, beaches in particular, which constitute one of the most valuable coastal landforms. Vulnerability assessments related to beach erosion may contribute to planning measures to counteract erosion by identifying, quantifying and ranking vulnerability. Herein, we present a new index, the Beach Vulnerability Index (BVI), which combines simplicity in calculations, easily obtainable data and low processing capacity. This approach provides results not only for different beaches, but also for different sectors of the same beach and enables the identification of the relative significance of the processes involved. It functions through the numerical approximation of indicators that correspond to the mechanisms related to the processes that control beach evolution, such as sediment availability, wave climate, beach morhodynamics and sea level change. The BVI is also intended to be used as a managerial tool for beach sustainability, including resilience to climate change impact on beach erosion.

  16. Ventura County, California. Survey Report for Beach Erosion Control. Main Report.

    Science.gov (United States)

    1980-05-01

    documxent hasbe IPTV foxpubicxelease CrInd soae ita on ic~f is unhfl1ited. CA-. US. Army Corps of Engineers Los Angeles Dis t ic -8 9- 23... system for Ventura Harbor to be applied to small-craft harbors where shoaling is a constantly recurring problem and a hazard to small craft. During...that shore protective structures and improved beaches may be installed without adequate public access, public transportation systems , or parking

  17. Moving sands along a headland-embayed beach system (Algarve, Southern Portugal)

    Science.gov (United States)

    Oliveira, Sónia; Horta, João; Nascimento, Ana; Gomes, Ana; Veiga-Pires, Cristina; Moura, Delminda

    2015-04-01

    Resilience of embayed and pocket beaches located at the southernmost coast of Portugal is currently a major question to coastal management of this region. In fact, several among those beaches have been artificially fed aiming to increase the width of the beach allowing people to maintain a safe distance to the unstable rocky cliffs. The sand is dredged from the offshore (ca. 2 miles from the shoreline) representing high costs for the Portuguese government. For how long will the artificial feeding solve the problem? Which beaches are worth being nourished taking into account the morphosedimentary processes? The present work is the result of a field experiment aiming to study the efficiency of the alongshore sedimentary transport between successive embayed beaches. The experiment was performed in the very indented rocky coast of the Algarve region (Southern Portugal) and comprised two field campaigns, both in 2014, during spring tides in March and November. The Algarve coast experiences a semi-diurnal meso-tidal regime ranging from 1.3 m during neap tides to 3.5 m at spring tides and the waves approach from WSW (232°) during 72% of observations along the year, almost normal to the study area shoreline. The wave and current characteristics (significant height-Hs and Period-T for waves, velocity and direction for currents) were measured during three and six tidal cycles respectively for the first and second campaign, using two pressure transducers and one electromagnetic current meter. We used sand painted with orange fluorescent dye (100 kg in March and 200 kg in November) as tracer to track the movement of the sand along the coast. The marked sand was placed on the beach face of the westernmost beach of the study area during the first low tide of each campaign. Following, hundreds of sediment samples were collected during low tide, through the monitored period, in the nodes of a georeferenced square mesh of 10 x 20 m covering three embayed beaches. Later in the

  18. Evaluating Recall and Recognition Memory Using the Montreal Cognitive Assessment: Applicability for Alzheimer's and Huntington's Diseases.

    Science.gov (United States)

    Van Liew, Charles; Santoro, Maya S; Goldstein, Jody; Gluhm, Shea; Gilbert, Paul E; Corey-Bloom, Jody

    2016-12-01

    We sought to investigate whether the Montreal Cognitive Assessment (MoCA) could provide a brief assessment of recall and recognition using Huntington disease (HD) and Alzheimer disease (AD) as disorders characterized by different memory deficits. This study included 80 participants with HD, 64 participants with AD, and 183 community-dwelling control participants. Random-effects hierarchical logistic regressions were performed to assess the relative performance of the normal control (NC), participants with HD, and participants with AD on verbal free recall, cued recall, and multiple-choice recognition on the MoCA. The NC participants performed significantly better than participants with AD at all the 3 levels of assessment. No difference existed between participants with HD and NC for cued recall, but NC participants performed significantly better than participants with HD on free recall and recognition. The participants with HD performed significantly better than participants with AD at all the 3 levels of assessment. The MoCA appears to be a valuable, brief cognitive assessment capable of identifying specific memory deficits consistent with known differences in memory profiles. © The Author(s) 2016.

  19. An improved assay for the determination of Huntington`s disease allele size

    Energy Technology Data Exchange (ETDEWEB)

    Reeves, C.; Klinger, K.; Miller, G. [Intergrated Genetics, Framingham, MA (United States)

    1994-09-01

    The hallmark of Huntington`s disease (HD) is the expansion of a polymorphic (CAG)n repeat. Several methods have been published describing PCR amplification of this region. Most of these assays require a complex PCR reaction mixture to amplify this GC-rich region. A consistent problem with trinucleotide repeat PCR amplification is the presence of a number of {open_quotes}stutter bands{close_quotes} which may be caused by primer or amplicon slippage during amplification or insufficient polymerase processivity. Most assays for HD arbitrarily select a particular band for diagnostic purposes. Without a clear choice for band selection such an arbitrary selection may result in inconsistent intra- or inter-laboratory findings. We present an improved protocol for the amplification of the HD trinucleotide repeat region. This method simplifies the PCR reaction buffer and results in a set of easily identifiable bands from which to determine allele size. HD alleles were identified by selecting bands of clearly greater signal intensity. Stutter banding was much reduced thus permitting easy identification of the most relevant PCR product. A second set of primers internal to the CCG polymorphism was used in selected samples to confirm allele size. The mechanism of action of N,N,N trimethylglycine in the PCR reaction is not clear. It may be possible that the minimal isostabilizing effect of N,N,N trimethylglycine at 2.5 M is significant enough to affect primer specificity. The use of N,N,N trimethylglycine in the PCR reaction facilitated identification of HD alleles and may be appropriate for use in other assays of this type.

  20. The Counselor and Genetic Disease: Huntington's Disease as a Model.

    Science.gov (United States)

    Wexler, Nancy S.

    This speech offers a brief description of Huntington's Disease (HD): its causes, symptoms, and incidence. It then concentrates on the psychological problems of persons one of whose parents had the disease, and the role of the counselor in helping these humans cope with their fears about contacting it themselves. A relatively detailed case study is…

  1. Age, CAG repeat length, and clinical progression in Huntington's disease.

    Science.gov (United States)

    Rosenblatt, Adam; Kumar, Brahma V; Mo, Alisa; Welsh, Claire S; Margolis, Russell L; Ross, Christopher A

    2012-02-01

    The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment.

  2. Biological Markers of Cognition in Prodromal Huntington's Disease: A Review

    Science.gov (United States)

    Papp, Kathryn V.; Kaplan, Richard F.; Snyder, Peter J.

    2011-01-01

    Huntington's disease (HD), an autosomal-dominant genetic disorder, has historically been viewed as a degenerative movement disorder but it also includes psychiatric symptoms and progressive cognitive decline. There has been a lack of consensus in the literature about whether or not cognitive signs can be detected in carriers before clinical…

  3. Huntington II Simulation Program-POLUT. Teacher's Guide.

    Science.gov (United States)

    Braun, L.; And Others

    This teacher's guide is written to accompany the Huntington II Simulation Program - POLUT. POLUT is a program written in BASIC which provides simulation of the interaction between water and waste. It creates a context within which the user can control specific variables which effect the quality of a water resource. The teacher's guide provides…

  4. Exploring Genetic Factors Involved in Huntington Disease Age of Onset

    DEFF Research Database (Denmark)

    Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel;

    2015-01-01

    Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of ...

  5. Clinical and genetic features of Huntington disease in Sri Lanka.

    Science.gov (United States)

    Sumathipala, Dulika S; Jayasekara, Rohan W; Dissanayake, Vajira H W

    2013-12-05

    Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.

  6. PSYCHIATRIC ASPECTS OF HUNTINGTON DISEASE – CASE REPORTS

    Directory of Open Access Journals (Sweden)

    Mirela Batta

    2004-04-01

    Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.

  7. Expression pattern of apoptosis-related markers in Huntington's disease

    NARCIS (Netherlands)

    Vis, José C; Schipper, Ellis; de Boer-van Huizen, Roelie T; Verbeek, Marcel M; de Waal, Rob M W; Wesseling, Pieter; ten Donkelaar, Hans J; Kremer, Berry

    2005-01-01

    Inappropriate apoptosis has been implicated in the mechanism of neuronal death in Huntington's disease (HD). In this study, we report the expression of apoptotic markers in HD caudate nucleus (grades 1-4) and compare this with controls without neurological disease. Terminal transferase-mediated biot

  8. Shoreface storm morphodynamics and mega-rip evolution at an embayed beach: Bondi Beach, NSW, Australia

    Science.gov (United States)

    McCarroll, R. Jak; Brander, Robert W.; Turner, Ian L.; Leeuwen, Ben Van

    2016-03-01

    Embayed beach dynamics differ from open beaches due to the nature of headland control. Their resultant morphologies and morphodynamic behaviour are poorly understood due in part to a critical lack of surfzone and nearshore bathymetry observations. This study describes the morphodynamic storm response of a high-energy intermediate, 850 m long embayed beach over a three week period spanning a cluster of storms. A headland and subaqueous ridge protects the northern end of the beach, resulting in an alongshore wave height gradient. Contrary to existing beach state conceptual models, under energetic forcing the beach did not 'reset' or enter a 'cellular mega-rip' beach state. The protected northern end persisted in a low energy state, while the wave exposed southern section transitioned from transverse-bar-and-rip to a complex double-bar system, a process previously undescribed in the literature. Bar-rip morphology at the exposed end of the beach migrated offshore to greater depths, leaving an inner-reflective beach and longshore trough, while a mega-rip channel with 3 m relief developed at the exposed headland. The number of rip channels remained near constant over multiple storm events. Offshore sediment flux was 350 m3/m at the exposed headland and 20 m3/m at the protected end. Alongshore bathymetric non-uniformity decreased over the sub-aerial beach and inner surfzone, but increased in the outer surfzone and beyond. Suggested mechanisms for the persistence of 3D morphology during the cluster of storms include: (i) wave refraction to shore normal within the embayment; (ii) alongshore energy gradients; and (iii) pre-existing bar-rip morphology. Formation of the complex multi-bar state may be related to antecedent morphology, headland geometry, substrate gradient and localised hydrodynamic interactions near the headland. A new conceptual embayed beach state model is proposed for asymmetric, transitional embayed beaches. The model describes a pre-storm embayment where

  9. Haeundae beach in Korea: Seasonal-to-decadal wave statistics and impulsive beach responses to typhoons

    Science.gov (United States)

    Lee, Hee Jun; Do, Jong-Dae; Kim, Sun Sin; Park, Won-Kyung; Jun, Kicheon

    2016-12-01

    Haeundae Beach represents Korean pocket beaches that are currently erosional and dominated by summertime typhoons. The decadal wave characteristics 9 km offshore of Haeundae Beach were analyzed using the WAM model that was validated through the 2007 wave observations. The wave statistics modelled for 1979-2007 indicates that the seasonal mean significant wave height (H s) is highest (0.6-0.7 m) in summer due to typhoons, in contrast to the lowest (around 0.5 m) autumn analog. The wave direction is also pronouncedly seasonal with the principal bearings of SSW and NE in the summer and winter seasons, respectively. The WAM results additionally show that the H s has gradually increased over the region of Haeundae Beach since 1993. Beach profiling during June-November 2014 shows the opposite processes of the typhoon and fair-weather on beach sands. During a typhoon, foreshore sands were eroded and then accumulated as sand bars on the surf zone. In the subsequent fair-weather, the sand bars moved back to the beach resulting in the surf-zone erosion and foreshore accretion. A total of 5 cycles of these beach-wide sand movements yielded a net retreat (up to 20 m) of the shoreline associated with large foreshore erosion. However, the surf zone only slightly accumulated as a result of the sand cycles. This was attributed to the sand escape offshore from the westernmost tip of the beach. The present study may provide an important clue to understanding the erosional processes in Haeundae Beach.

  10. Employing Real Time PCR for the Diagnosis of Huntington Disease

    Directory of Open Access Journals (Sweden)

    Frouzandeh Mahjoubi

    2013-07-01

    Full Text Available Background: Huntington disease (HD is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia. The onset age of this disease is varied but usually is between the ages 40-50. Huntington's disease is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD which is located on chromosome 4p3.1. Since many clinical picture of HD are indistinguishable from other distinct genetic disorders molecular test such as PCR is the only way to confirm the disease. The aim of this study was to introduce a new and fast technique for the diagnosis of Huntington disease.Materials and Methods: Blood specimens were collected from individuals suspected for Huntington disease and also people with no symptoms and family history of this disease. DNAs were extracted according to standard protocol. Using conventional PCR, patient positive for Huntington disease were diagnosed. Then employing real time PCR on the basis of difference between melting temperature (Tm a new and fast diagnostic method was introduced.Results: Among 29 patients suspected to be HD only 8 HD patients were confirmed using PCR and real time PCR. The numbers of CAG repeat were between 42-50 and melting temperatures were between 89-92.Conclusion: The concept of using melting temperature in real time PCR protocol presented in here could be employed for the rapid diagnosis of the diseases caused by the increased in triple repeat sequences. It is fast, robust and has the potential use for the prenatal diagnosis.

  11. Major Superficial White Matter Abnormalities in Huntington's Disease

    Science.gov (United States)

    Phillips, Owen R.; Joshi, Shantanu H.; Squitieri, Ferdinando; Sanchez-Castaneda, Cristina; Narr, Katherine; Shattuck, David W.; Caltagirone, Carlo; Sabatini, Umberto; Di Paola, Margherita

    2016-01-01

    Background: The late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington's disease. It is an area of the brain that is late myelinating and is sensitive to both normal aging and neurodegenerative disease effects. Therefore, it may be sensitive to Huntington's disease processes. Methods: Structural MRI data from 25 Pre-symptomatic subjects, 24 Huntington's disease patients and 49 healthy controls was run through a cortical pattern-matching program. The surface corresponding to the white matter directly below the cortical gray matter was then extracted. Individual subject's Diffusion Tensor Imaging (DTI) data was aligned to their structural MRI data. Diffusivity values along the white matter surface were then sampled at each vertex point. DTI measures with high spatial resolution across the superficial white matter surface were then analyzed with the General Linear Model to test for the effects of disease. Results: There was an overall increase in the axial and radial diffusivity across much of the superficial white matter (p < 0.001) in Pre-symptomatic subjects compared to controls. In Huntington's disease patients increased diffusivity covered essentially the whole brain (p < 0.001). Changes are correlated with genotype (CAG repeat number) and disease burden (p < 0.001). Conclusions: This study showed broad abnormalities in superficial white matter even before symptoms are present in Huntington's disease. Since, the superficial white matter has a unique microstructure and function these abnormalities suggest it plays an important role in the disease. PMID:27242403

  12. Threats to sandy beach ecosystems: A review

    Science.gov (United States)

    Defeo, Omar; McLachlan, Anton; Schoeman, David S.; Schlacher, Thomas A.; Dugan, Jenifer; Jones, Alan; Lastra, Mariano; Scapini, Felicita

    2009-01-01

    We provide a brief synopsis of the unique physical and ecological attributes of sandy beach ecosystems and review the main anthropogenic pressures acting on the world's single largest type of open shoreline. Threats to beaches arise from a range of stressors which span a spectrum of impact scales from localised effects (e.g. trampling) to a truly global reach (e.g. sea-level rise). These pressures act at multiple temporal and spatial scales, translating into ecological impacts that are manifested across several dimensions in time and space so that today almost every beach on every coastline is threatened by human activities. Press disturbances (whatever the impact source involved) are becoming increasingly common, operating on time scales of years to decades. However, long-term data sets that describe either the natural dynamics of beach systems or the human impacts on beaches are scarce and fragmentary. A top priority is to implement long-term field experiments and monitoring programmes that quantify the dynamics of key ecological attributes on sandy beaches. Because of the inertia associated with global climate change and human population growth, no realistic management scenario will alleviate these threats in the short term. The immediate priority is to avoid further development of coastal areas likely to be directly impacted by retreating shorelines. There is also scope for improvement in experimental design to better distinguish natural variability from anthropogenic impacts. Sea-level rise and other effects of global warming are expected to intensify other anthropogenic pressures, and could cause unprecedented ecological impacts. The definition of the relevant scales of analysis, which will vary according to the magnitude of the impact and the organisational level under analysis, and the recognition of a physical-biological coupling at different scales, should be included in approaches to quantify impacts. Zoning strategies and marine reserves, which have not

  13. The role of beach morphodynamic state on infragravity swash on beaches: field observations.

    Science.gov (United States)

    Gomes da Silva, Paula; González, Mauricio; Medina, Raul

    2017-04-01

    The runup generated by waves can be defined as the maximum height above sea water level on the coastline and is an important criterion for costal structures/nourishment design and erosion/flooding risk analysis. Given the complexity of nonlinear processes involved in the runup generation, its prediction is commonly made by means of empirical formulations that relate wave and beach parameters. The most accepted parametrization presented till the moment was proposed by Stockdon et al. (2006), in which the runup exceeded by 2 percent of the waves (R2) is described in terms of setup (η - the steady superelevation of the mean water level caused by breaking waves) and incident and infragravity swash (Sinc and Sig- time-varying fluctuations around the setup caused by non-breaking waves). Such formulation has been widely accepted and its efficiency was appraised in many works. Nevertheless, although empirical parametrization of infragravity swash using incident wave's parameters shows reasonable skill, the correlation can still present considerable scatter. The amount of infragravity energy on swash is directly related to the morphodynamic beach state, in a way that beach profiles classified as reflective (low wave energy, coarse sediment and higher beach slope) tend to show lower Sig values than dissipative ones (high wave energy, fine sediment and lower beach slope). However, since Stockdon's formula for predicting infragravity swash consider only wave parameters, its use implies that beaches receiving the same wave energy but with different grain size and beach slope would present the same Sig values. This work assumed the hypothesis that the scatter verified on the predictions of the infragravity swash is mainly related to the lack of information about the beach state in Stockdon formula. Based on that, a field campaign was designed and carried out in Somo-El Puntal beach, north Spain, with the aim of generating data to be analyzed in terms of infragravity swash. An

  14. Beach science in the Great Lakes

    Science.gov (United States)

    Nevers, Meredith B.; Byappanahalli, Murulee N.; Edge, Thomas A.; Whitman, Richard L.

    2014-01-01

    Monitoring beach waters for human health has led to an increase and evolution of science in the Great Lakes, which includes microbiology, limnology, hydrology, meteorology, epidemiology, and metagenomics, among others. In recent years, concerns over the accuracy of water quality standards at protecting human health have led to a significant interest in understanding the risk associated with water contact in both freshwater and marine environments. Historically, surface waters have been monitored for fecal indicator bacteria (fecal coliforms, Escherichia coli, enterococci), but shortcomings of the analytical test (lengthy assay) have resulted in a re-focusing of scientific efforts to improve public health protection. Research has led to the discovery of widespread populations of fecal indicator bacteria present in natural habitats such as soils, beach sand, and stranded algae. Microbial source tracking has been used to identify the source of these bacteria and subsequently assess their impact on human health. As a result of many findings, attempts have been made to improve monitoring efficiency and efficacy with the use of empirical predictive models and molecular rapid tests. All along, beach managers have actively incorporated new findings into their monitoring programs. With the abundance of research conducted and information gained over the last 25 years, “Beach Science” has emerged, and the Great Lakes have been a focal point for much of the ground-breaking work. Here, we review the accumulated research on microbiological water quality of Great Lakes beaches and provide a historic context to the collaborative efforts that have advanced this emerging science.

  15. Beach Management & Analysis of the Visitors’ Remarks

    Directory of Open Access Journals (Sweden)

    Perihan Paksoy

    2014-07-01

    Full Text Available User perceptions can become vital especially at beach preferences as cleanliness, safety and amenities are some of the apparent factors that will affect. With the awareness of probable adaptation of beach users’ demands into policy recommendations, a case study has been carried out at Black Sea Coast of İstanbul at Şile beaches. Şile has been chosen in this study purposefully as it is a touristic district of İstanbul which has aimed to earn Blue Flag award previously. Secondly, it receives high amount of visitors especially during the peak periods in weekends; as it has a very close location to the city, people are choosing here most of the time just for the day. In this research with factors about human use of beach and impacts like cleanliness and sufficiency of amenities (showers, toilets, changing cubicles, parks etc. and the number of lifeguards are studied. Regarding the findings, the researchers consequently highlight recommendations for Şile beach management which could enhance the visitor experience.

  16. Beach Management & Analysis of Visitors’ Remarks

    Directory of Open Access Journals (Sweden)

    Perihan Paksoy

    2016-01-01

    Full Text Available User perceptions can become vital especially at beach preferences as cleanliness, safety and amenities are some of the apparent factors that will affect. With the awareness of probable adaptation of beach users’ demands into policy recommendations, a case study has been carried out at Black Sea Coast of İstanbul at Şile beaches. Şile has been chosen in this study purposefully as it is a touristic district of İstanbul which has aimed to earn Blue Flag award previously. Secondly, it receives high amount of visitors especially during the peak periods in weekends; as it has a very close location to the city, people are choosing here most of the time just for the day. In this research with factors about human use of beach and impacts like cleanliness and sufficiency of amenities (showers, toilets, changing cubicles, parks etc. and the number of lifeguards are studied. Regarding the findings, the researchers consequently highlight recommendations for Şile beach management which could enhance the visitor experience.

  17. A systematic review and meta-analysis of clinical variables used in Huntington disease research.

    Science.gov (United States)

    Franciosi, Sonia; Shim, Yaein; Lau, Margaret; Hayden, Michael R; Leavitt, Blair R

    2013-12-01

    Treatment effect in Huntington disease (HD) clinical trials has relied on primary outcome measures such as total motor score or functional rating scales. However, these measures have limited sensitivity, particularly in pre- to early stages of the disease. We performed a systematic review of HD clinical studies to identify endpoints that correlate with disease severity. Using standard HD keywords and terms, we identified 749 published studies from 1993 to 2011 based on the availability of demographic, biochemical, and clinical measures. The average and variability of each measure was abstracted and stratified according to pre-far, pre-close, early, mild, moderate, and severe HD stages. A fixed-effect meta-analysis on selected variables was conducted at various disease stages. A total of 1,801 different clinical variables and treatment outcomes were identified. Unified Huntington Disease Rating Scale (UHDRS) Motor, UHDRS Independence, and Trail B showed a trend toward separation between HD stages. Other measures, such as UHDRS Apathy, Verbal Fluency, and Symbol Digit, could only distinguish between pre- and early stages of disease and later stages, whereas other measures showed little correlation with increasing HD stages. Using cross-sectional data from published HD clinical trials, we have identified potential endpoints that could be used to track HD disease progression and treatment effect. Longitudinal studies, such as TRACK-HD, are critical for assessing the value of potential markers of disease progression for use in future HD therapeutic trials. A list of variables, references used in this meta-analysis, and database is available at http://www.cmmt.ubc.ca/research/investigators/leavitt/publications.

  18. EPA Office of Water (OW): Beaches NHDPlus Indexed Dataset

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Beaches Environmental Assessment and Coastal Health (BEACH) Program focuses on the following five areas to meet the goals of improving public health and...

  19. Evaluation of Subterranean Subsidence at Seal Beach National Wildlife Refuge

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The purpose of this study was to determine the amount of subsurface subsidence at Naval Weapons Station Seal Beach (NWSSB) areas which include Seal Beach National...

  20. EPA Office of Water (OW): Beaches PRAWN Attribute Data

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Beaches Environmental Assessment and Coastal Health (BEACH) Program focuses on the following five areas to meet the goals of improving public health and...

  1. Beach processes between Mulgund and Shiroda, west coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Chandramohan, P.; Nayak, B.U.; Sanilkumar, V.; Pathak, K.C.

    Study on beach processes for an year shows seasonal changes without annual net erosion. The beaches are stable and regain the maximum profiles during February to April. Distribution of longshore current direction is not uniform along the study...

  2. Climate induced changes in beach morphology and sediment dynamics, Machilipatnam

    Digital Repository Service at National Institute of Oceanography (India)

    Chauhan, O.S.

    The wave climate, littoral current patterns, monthly and seasonal longshore drift rates, beach profile changes, and sediment budget of the beach sediments were determined along Machilipatnam, Andhra Pradesh (India) for the NE, SW monsoons...

  3. Beach Advisory and Closing Online Notification (BEACON) system

    Data.gov (United States)

    U.S. Environmental Protection Agency — Beach Advisory and Closing Online Notification system (BEACON) is a colletion of state and local data reported to EPA about beach closings and advisories. BEACON is...

  4. A simplified model of pathogenic pollution for managing beaches ...

    African Journals Online (AJOL)

    A simplified model of pathogenic pollution for managing beaches. ... key physical processes involved in mixing and dispersion of pathogenic pollution at ... Key words: beach-water quality model, pathogenic pollution, storm-water runoff, E. coli

  5. Targeting the Cholinergic System to Develop a Novel Therapy for Huntington's Disease.

    Science.gov (United States)

    D'Souza, Gary X; Waldvogel, Henry J

    2016-12-15

    In this review, we outline the role of the cholinergic system in Huntington's disease, and briefly describe the dysfunction of cholinergic transmission, cholinergic neurons, cholinergic receptors and cholinergic survival factors observed in post-mortem human brains and animal models of Huntington's disease. We postulate how the dysfunctional cholinergic system can be targeted to develop novel therapies for Huntington's disease, and discuss the beneficial effects of cholinergic therapies in pre-clinical and clinical studies.

  6. Crime in Huntington's disease: a study of registered offences among patients, relatives, and controls

    OpenAIRE

    Jensen, P; Fenger, K; Bolwig, T; Sorensen, S. A.

    1998-01-01

    OBJECTIVES—Criminal behaviour has been described as a problem in Huntington's disease, but systematic studies including control groups have been missing. Based on information from Danish registries, rates and types of crime committed by patients with Huntington's disease, non-affected relatives, and controls were studied.
METHODS—99 males and 151 females with Huntington's disease were compared with 334 non-affected first degree relatives (134 men and 200 women) and to matche...

  7. Through the sands of time: Beach litter trends from nine cleaned north cornish beaches.

    Science.gov (United States)

    Watts, Andrew J R; Porter, Adam; Hembrow, Neil; Sharpe, Jolyon; Galloway, Tamara S; Lewis, Ceri

    2017-09-01

    Marine litter and its accumulation on beaches is an issue of major current concern due to its significant environmental and economic impacts. Yet our understanding of spatio-temporal trends in beach litter and the drivers of these trends are currently limited by the availability of robust long term data sets. Here we present a unique data set collected systematically once a month, every month over a six year period for nine beaches along the North Coast of Cornwall, U.K. to investigate the key drivers of beach litter in the Bude, Padstow and Porthcothan areas. Overall, an average of 0.02 litter items m(-2) per month were collected during the six year study, with Bude beaches (Summerleaze, Crooklets and Widemouth) the most impacted (0.03 ± 0.004 litter items m(-2) per month). The amount of litter collected each month decreased by 18% and 71% respectively for Padstow (Polzeath, Trevone and Harlyn) and Bude areas over the 6 years, possibly related to the regular cleaning, however litter increased by 120% despite this monthly cleaning effort on the Padstow area beaches. Importantly, at all nine beaches the litter was dominated by small, fragmented plastic pieces and rope fibres, which account for 32% and 17% of all litter items collected, respectively. The weathered nature of these plastics indicates they have been in the marine environment for an extended period of time. So, whilst classifying the original source of these plastics is not possible, it can be concluded they are not the result of recent public littering. This data highlights both the extent of the marine litter problem and that current efforts to reduce littering by beach users will only tackle a fraction of this litter. Such information is vital for developing effective management strategies for beach and marine litter at both regional and global levels. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Temporal trend of litter contamination at Cassino beach, Southern Brazil

    OpenAIRE

    Tourinho, Paula da Silva; Fillmann,Gilberto

    2011-01-01

    This study was undertaken to evaluate temporal trends of litter contamination at Cassino beach, Southern Brazil. Surveys were conducted between 1994 and 1995, and then resumed from 2003 to 2006. Litter composition was related to both land- anmarinebased origins. However, seasonal and spatial variations showed that in situ deposition by beach users is still a major source of litter at Cassino beach. The results indicated a significant increase in litter amount at Cassino beach over the survey ...

  9. Tidal flow separation at protruding beach nourishments

    OpenAIRE

    Rademacher, Max; de Schipper, Matthieu A.; Swinkels, Cilia; MacMahan, Jamie H.; Reniers, Ad J.H.M.

    2017-01-01

    The article of record as published may be found at http://dx.doi.org/10.1002/2016JC011942 In recent years, the application of large-scale beach nourishments has been discussed, with the Sand Motor in the Netherlands as the first real-world example. Such protruding beach nourishments have an impact on tidal currents, potentially leading to tidal flow separation and the generation of tidal eddies of length scales larger than the nourishment itself. The present study examines the cha...

  10. Landscape Visual Quality and Meiofauna Biodiversity on Sandy Beaches

    Science.gov (United States)

    Felix, Gabriela; Marenzi, Rosemeri C.; Polette, Marcos; Netto, Sérgio A.

    2016-10-01

    Sandy beaches are central economic assets, attracting more recreational users than other coastal ecosystems. However, urbanization and landscape modification can compromise both the functional integrity and the attractiveness of beach ecosystems. Our study aimed at investigating the relationship between sandy beach artificialization and the landscape perception by the users, and between sandy beach visual attractiveness and biodiversity. We conducted visual and biodiversity assessments of urbanized and semiurbanized sandy beaches in Brazil and Uruguay. We specifically examined meiofauna as an indicator of biodiversity. We hypothesized that urbanization of sandy beaches results in a higher number of landscape detractors that negatively affect user evaluation, and that lower-rated beach units support lower levels of biodiversity. We found that urbanized beach units were rated lower than semiurbanized units, indicating that visual quality was sensitive to human interventions. Our expectations regarding the relationship between landscape perception and biodiversity were only partially met; only few structural and functional descriptors of meiofauna assemblages differed among classes of visual quality. However, lower-rated beach units exhibited signs of lower environmental quality, indicated by higher oligochaete densities and significant differences in meiofauna structure. We conclude that managing sandy beaches needs to advance beyond assessment of aesthetic parameters to also include the structure and function of beach ecosystems. Use of such supporting tools for managing sandy beaches is particularly important in view of sea level rise and increasing coastal development.

  11. Intertidal beach slope predictions compared to field data

    NARCIS (Netherlands)

    Madsen, A.J.; Plant, N.G.

    2001-01-01

    This paper presents a test of a very simple model for predicting beach slope changes. The model assumes that these changes are a function of both the incident wave conditions and the beach slope itself. Following other studies, we hypothesized that the beach slope evolves towards an equilibrium

  12. Tracer Studies In A Laboratory Beach Subjected To Waves

    Science.gov (United States)

    This work investigated the washout of dissolved nutrients from beaches due to waves by conducting tracer studies in a laboratory beach facility. The effects of waves were studied in the case where the beach was subjected to the tide, and that in which no tidal action was present...

  13. Tracer Studies In A Laboratory Beach Subjected To Waves

    Science.gov (United States)

    This work investigated the washout of dissolved nutrients from beaches due to waves by conducting tracer studies in a laboratory beach facility. The effects of waves were studied in the case where the beach was subjected to the tide, and that in which no tidal action was present...

  14. Beachwatch : The effect of daily morphodynamics on seasonal beach evolution

    NARCIS (Netherlands)

    Quartel, S.

    2007-01-01

    Not only the storm intensity, but also the capacity of the beach to recover during fair weather conditions, influences the erosion trends of beaches. Susanne Quartel concludes this in her thesis in which the daily changes of the intertidal beach of Noordwijk aan Zee, the Netherlands, are described.

  15. Macrofauna and meiofauna of two sandy beaches at Mombasa, Kenya

    Digital Repository Service at National Institute of Oceanography (India)

    Ansari, Z.A.; Ingole, B.S.; Parulekar, A.H.

    density was maximum around high water mark at the English point, a more sheltered beach On the more exposed Nyali Beach the meiofauna was aggregated downshore and highest numbers were recorded between mid and low water mark On both the beaches...

  16. Fine particle deposition at Vainguinim tourist beach, Goa, India

    Digital Repository Service at National Institute of Oceanography (India)

    Chandramohan, P.; Jayakumar, S.; SanilKumar, V.; Ilangovan, D.

    . The beach sediments consist primarily shell fragments and quartz, with heavy mineral composed of ilmenits, magnetite and manganese. The black stain of the fine-grained heavy minerals deposited on the beach face reduces the aesthetics of the beach. This paper...

  17. Intertidal beach slope predictions compared to field data

    NARCIS (Netherlands)

    Madsen, A.J.; Plant, N.G.

    2001-01-01

    This paper presents a test of a very simple model for predicting beach slope changes. The model assumes that these changes are a function of both the incident wave conditions and the beach slope itself. Following other studies, we hypothesized that the beach slope evolves towards an equilibrium valu

  18. Bibliography of sandy beaches and sandy beach organisms on the African continent

    CSIR Research Space (South Africa)

    Bally, R

    1986-01-01

    Full Text Available This bibliography covers the literature relating to sandy beaches on the African continent and outlying islands. The bibliography lists biological, chemical, geographical and geological references and covers shallow marine sediments, surf zones off...

  19. Family caregivers' views on coordination of care in Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2015-01-01

    BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient......'s illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS......: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross...

  20. Psychodynamic theory and counseling in predictive testing for Huntington's disease.

    Science.gov (United States)

    Tassicker, Roslyn J

    2005-04-01

    This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client's experience of growing up with a parent affected by Huntington's Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.

  1. Abnormalities in the tricarboxylic Acid cycle in Huntington disease and in a Huntington disease mouse model.

    Science.gov (United States)

    Naseri, Nima N; Xu, Hui; Bonica, Joseph; Vonsattel, Jean Paul G; Cortes, Etty P; Park, Larry C; Arjomand, Jamshid; Gibson, Gary E

    2015-06-01

    Glucose metabolism is reduced in the brains of patients with Huntington disease (HD). The mechanisms underlying this deficit, its link to the pathology of the disease, and the vulnerability of the striatum in HD remain unknown. Abnormalities in some of the key mitochondrial enzymes involved in glucose metabolism, including the pyruvate dehydrogenase complex (PDHC) and the tricarboxylic acid (TCA) cycle, may contribute to these deficits. Here, activities for these enzymes and select protein levels were measured in human postmortem cortex and in striatum and cortex of an HD mouse model (Q175); mRNA levels encoding for these enzymes were also measured in the Q175 mouse cortex. The activities of PDHC and nearly all of the TCA cycle enzymes were dramatically lower (-50% to 90%) in humans than in mice. The activity of succinate dehydrogenase increased with HD in human (35%) and mouse (23%) cortex. No other changes were detected in the human HD cortex or mouse striatum. In Q175 cortex, there were increased activities of PDHC (+12%) and aconitase (+32%). Increased mRNA levels for succinyl thiokinase (+88%) and isocitrate dehydrogenase (+64%) suggested an upregulation of the TCA cycle. These patterns of change differ from those reported in other diseases, which may offer unique metabolic therapeutic opportunities for HD patients.

  2. Pluripotent hybrid stem cells from transgenic Huntington's disease monkey.

    Science.gov (United States)

    Laowtammathron, Chuti; Chan, Anthony W S

    2013-01-01

    Huntington's disease (HD) is a devastating disease that currently has no cure. Transgenic HD monkeys have developed key neuropathological and cognitive behavioral impairments similar to HD patients. Thus, pluripotent stem cells derived from transgenic HD monkeys could be a useful comparative model for clarifying HD pathogenesis and developing novel therapeutic approaches, which could be validated in HD monkeys. In order to create personal pluripotent stem cells from HD monkeys, here we present a tetraploid technique for deriving pluripotent hybrid HD monkey stem cells.

  3. Striatal degeneration impairs language learning: evidence from Huntington's disease.

    Science.gov (United States)

    De Diego-Balaguer, R; Couette, M; Dolbeau, G; Dürr, A; Youssov, K; Bachoud-Lévi, A-C

    2008-11-01

    Although the role of the striatum in language processing is still largely unclear, a number of recent proposals have outlined its specific contribution. Different studies report evidence converging to a picture where the striatum may be involved in those aspects of rule-application requiring non-automatized behaviour. This is the main characteristic of the earliest phases of language acquisition that require the online detection of distant dependencies and the creation of syntactic categories by means of rule learning. Learning of sequences and categorization processes in non-language domains has been known to require striatal recruitment. Thus, we hypothesized that the striatum should play a prominent role in the extraction of rules in learning a language. We studied 13 pre-symptomatic gene-carriers and 22 early stage patients of Huntington's disease (pre-HD), both characterized by a progressive degeneration of the striatum and 21 late stage patients Huntington's disease (18 stage II, two stage III and one stage IV) where cortical degeneration accompanies striatal degeneration. When presented with a simplified artificial language where words and rules could be extracted, early stage Huntington's disease patients (stage I) were impaired in the learning test, demonstrating a greater impairment in rule than word learning compared to the 20 age- and education-matched controls. Huntington's disease patients at later stages were impaired both on word and rule learning. While spared in their overall performance, gene-carriers having learned a set of abstract artificial language rules were then impaired in the transfer of those rules to similar artificial language structures. The correlation analyses among several neuropsychological tests assessing executive function showed that rule learning correlated with tests requiring working memory and attentional control, while word learning correlated with a test involving episodic memory. These learning impairments significantly

  4. Long-term outcome of presymptomatic testing in Huntington disease

    OpenAIRE

    Gargiulo, Marcela; Lejeune, Séverine; Tanguy, Marie-Laure; Lahlou-Laforêt, Khadija; Faudet, Anne; Cohen, David; Feingold, Josué; Durr, Alexandra

    2008-01-01

    Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological determinants to improve care/support of testees. We performed a cross-sectional study of 351 persons who underwent presymptomatic testing. Those who had motor signs were excluded from the comparison of asymptomatic carrier and non-carriers. A struc...

  5. A Study of Variations in Atmospheric Turbulence Kinetic Energy on a Sandy Beach

    Science.gov (United States)

    Koscinski, J. S.; MacMahan, J. H.; Wang, Q.; Thornton, E. B.

    2016-12-01

    A 6-m high, meteorological tower consisting six evenly spaced ultrasonic anemometers and temperature-relative humidity sensors was deployed at the high tide line on sandy, wave-dissipative, meso-tidal beach in southern Monterey Bay, CA in October 2015. The micro-meteorology study focus is to explore the momentum fluxes and turbulent kinetic energy influenced by the interaction between an intensive wave-breaking surf zone and a sandy beach associated with onshore & cross-shore winds, diurnal heating, and differences in ocean-air temperatures. The tower was deployed for approximately 1-month and experienced diurnal wind variations and synoptic storm events with winds measuring up to 10 m/s and an air temperature range of 5-28 oC. This beach environment was found to be primarily unstable in thermal stratification indicating that the air temperature is colder than underlying surface, either the ocean or the sandy beach. The drag coefficient was found to be dependent upon the atmospheric stability. Direct-estimates of atmospheric stability were obtained with the sonic anemometer. The direct estimates are a ratio of w*/u*, where the w*, vertically scaled buoyancy velocity, is greater than u*, horizontally scaled friction velocity. Hypotheses for the enhanced buoyancy are 1) diurnal heating of the sandy beach, 2) warmer ocean temperatures relative to air temperatures, and 3) the wave breaking within the surf zone. Further exploration into these hypotheses is conducted by using vertical tower sensor pairs for estimating the temporal variability of the mechanical shear production and buoyancy production terms in turbulent kinetic energy budget. These results are part of the Coastal Land Air Sea Interaction (CLASI) experiment.

  6. Morphological changes of the beaches of Goa

    Digital Repository Service at National Institute of Oceanography (India)

    Murty, C.S.; Veerayya, M.; Varadachari, V.V.R.

    with the onset of the southwest monsoon wind and wave conditions followed by slower rates during the subsequent period of the monsoon. This continues till August when the beaches have minimum sediment storage. The wave climates during the postmonsoon and winter...

  7. Coastal erosion project, Diani beach, Kenya

    NARCIS (Netherlands)

    Ballot, J.; Hoyng, C.; Kateman, I.; Smits, M.; De Winter, R.

    2006-01-01

    Master project report. Since the seventies, the establishment of hotels and other facilities has increased the pressure on the Kenyan coast. During the last decade, hotel managers and residents in Diani Beach have been experiencing problems with erosion. The only measures taken to address the

  8. The ecology of sandy beaches in Natal

    African Journals Online (AJOL)

    estuary(32°25' 45"E128° 15'35"S),Blythdale (31 ° 16'20"EI. 29° 16'25"S) ... Bentho-planktonic mysids were collected with a sledge which skims off ... Along each transect a series of .... times more carbonate than the southern beaches. At So-.

  9. Coastal erosion project, Diani beach, Kenya

    NARCIS (Netherlands)

    Ballot, J.; Hoyng, C.; Kateman, I.; Smits, M.; De Winter, R.

    2006-01-01

    Master project report. Since the seventies, the establishment of hotels and other facilities has increased the pressure on the Kenyan coast. During the last decade, hotel managers and residents in Diani Beach have been experiencing problems with erosion. The only measures taken to address the proble

  10. Alongshore variability of nourished and natural beaches

    NARCIS (Netherlands)

    De Schipper, M.A.

    2014-01-01

    Alongshore variability in topography (i.e. height differences in bed level along the coast) can exist on both natural and nourished beaches. An important question prior to implementation of a nourishment project is how alongshore variability is going to evolve and, related to this variability, the e

  11. Interstitial meiofauna of Namib sandy beaches

    African Journals Online (AJOL)

    1988-03-16

    Mar 16, 1988 ... sandy beaches on the Namibian coast, Langstrand and Cape Cross. A transverse ... prominent in the mid-shore at Cape Cross but occurred in low numbers at Langstrand , where archiannelids ... Koop (1983) recorded the faunal composition of local .... four replicate sediment cores were taken at 15 cm.

  12. Cross-Shore Exchange on Natural Beaches

    Science.gov (United States)

    2014-09-01

    public health cost estimates of contaminated coastal waters: A case study of gastroenteritis at Southern California beaches. Environ. Sci. Technol., 40...Jones, J. Svejkovsky, G. V. Leipzig, and A. Brown, 2001: Generation of enterococci bacteria in a coastal saltwater marsh and its impact on surf zone

  13. The structural involvement of the cingulate cortex in premanifest and early Huntington's disease.

    Science.gov (United States)

    Hobbs, Nicola Z; Pedrick, Amy V; Say, Miranda J; Frost, Chris; Dar Santos, Rachelle; Coleman, Allison; Sturrock, Aaron; Craufurd, David; Stout, Julie C; Leavitt, Blair R; Barnes, Josephine; Tabrizi, Sarah J; Scahill, Rachael I

    2011-08-01

    The impact of Huntington's disease neuropathology on the structure of the cingulate is uncertain, with evidence of both cortical enlargement and atrophy in this structure in early clinical disease. We sought to determine differences in cingulate volume between premanifest Huntington's disease and early Huntington's disease groups compared with controls using detailed manual measurements. Thirty controls, 30 subjects with premanifest Huntington's disease, and 30 subjects with early Huntington's disease were selected from the Vancouver site of the TRACK-HD study. Subjects underwent 3 Tesla magnetic resonance imaging and motor, cognitive, and neuropsychiatric assessment. The cingulate was manually delineated and subdivided into rostral, caudal, and posterior segments. Group differences in volume and associations with performance on 4 tasks thought to utilize cingulate function were examined, with adjustment for appropriate covariates. Cingulate volumes were, on average, 1.7 mL smaller in early Huntington's disease (P=.001) and 0.9 mL smaller in premanifest Huntington's disease (P=.1) compared with controls. Smaller volumes in subsections of the cingulate were associated with impaired recognition of negative emotions (P=.04), heightened depression (P=.009), and worse visual working memory performance (P=.01). There was no evidence of associations between volume and ability on a performance-monitoring task. This study disputes previous findings of enlargement of the cingulate cortex in Huntington's disease and instead suggests that the cingulate undergoes structural degeneration during early Huntington's disease with directionally consistent, nonsignificant differences seen in premanifest Huntington's disease. Cingulate atrophy may contribute to deficits in mood, emotional processing, and visual working memory in Huntington's disease.

  14. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

    Science.gov (United States)

    Sermon, Karen; De Rijcke, Martine; Lissens, Willy; De Vos, Anick; Platteau, Peter; Bonduelle, Maryse; Devroey, Paul; Van Steirteghem, André; Liebaers, Inge

    2002-10-01

    Huntington's disease is an autosomal dominant, late-onset disorder, for which the gene and the causative mutation have been known since 1993. Some at-risk patients choose for presymptomatic testing and can make reproductive choices accordingly. Others however, prefer not to know their carrier status, but may still wish to prevent the birth of a carrier child. For these patients, exclusion testing after prenatal sampling has been an option for many years. A disadvantage of this test is that unaffected pregnancies may be terminated if the parent at risk (50%) has not inherited the grandparental Huntington gene, leading to serious moral and ethical objections. As an alternative, preimplantation genetic diagnosis (PGD) on embryos obtained in vitro may be proposed, after which only embryos free of risk are replaced. Embryos can then be selected, either by the amplification of the CAG repeat in the embryos without communicating results to the patients (ie non-disclosure testing), which brings its own practical and moral problems, or exclusion testing. We describe here the first PGD cycles for exclusion testing for Huntington's disease in five couples. Three couples have had at least one PGD cycle so far. One pregnancy ensued and a healthy female baby was delivered.

  15. iPSC-based drug screening for Huntington's disease.

    Science.gov (United States)

    Zhang, Ningzhe; Bailus, Barbara J; Ring, Karen L; Ellerby, Lisa M

    2016-05-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by an expansion of the CAG repeat in exon 1 of the huntingtin gene. The disease generally manifests in middle age with both physical and mental symptoms. There are no effective treatments or cures and death usually occurs 10-20 years after initial symptoms. Since the original identification of the Huntington disease associated gene, in 1993, a variety of models have been created and used to advance our understanding of HD. The most recent advances have utilized stem cell models derived from HD-patient induced pluripotent stem cells (iPSCs) offering a variety of screening and model options that were not previously available. The discovery and advancement of technology to make human iPSCs has allowed for a more thorough characterization of human HD on a cellular and developmental level. The interaction between the genome editing and the stem cell fields promises to further expand the variety of HD cellular models available for researchers. In this review, we will discuss the history of Huntington's disease models, common screening assays, currently available models and future directions for modeling HD using iPSCs-derived from HD patients. This article is part of a Special Issue entitled SI: PSC and the brain. Copyright © 2015 Elsevier B.V. All rights reserved.

  16. Informativeness of Early Huntington Disease Signs about Gene Status.

    Science.gov (United States)

    Oster, Emily; Eberly, Shirley W; Dorsey, E Ray; Kayson-Rubin, Elise; Oakes, David; Shoulson, Ira

    2015-01-01

    The cohort-level risk of Huntington disease (HD) is related to the age and symptom level of the cohort, but this relationship has not been made precise. To predict the evolving likelihood of carrying the Huntington disease (HD) gene for at-risk adults using age and sign level. Using data from adults with early signs and symptoms of HD linked to information on genetic status, we use Bayes' theorem to calculate the probability that an undiagnosed individual of a certain age and sign level has an expanded CAG repeat. Both age and sign levels have substantial influence on the likelihood of HD onset, and the probability of eventual diagnosis changes as those at risk age and exhibit (or fail to exhibit) symptoms. For example, our data suggest that in a cohort of individuals age 26 with a Unified Huntington's Disease Rating Scale (UHDRS) motor score of 7-10 70% of them will carry the HD mutation. For individuals age 56, the same motor score suggests only a 40% chance of carrying the mutation. Early motor signs of HD, overall and the chorea subscore, were highly predictive of disease onset at any age. However, body mass index (BMI) and cognitive performance scores were not as highly predictive. These results suggest that if researchers or clinicians are looking for early clues of HD, it may be more foretelling to look at motor rather than cognitive signs. Application of similar approaches could be used with other adult-onset genetic conditions.

  17. Contribution of imaging studies and neuro physiologic investigations to the diagnosis of Huntington`s chorea; L`imagerie medicale et les explorations neuro-physiologiques dans le diagnostic de la choree de Huntington

    Energy Technology Data Exchange (ETDEWEB)

    Paquet, J.M.; Turpin, J.CI. [Centre Hospitalier Universitaire, 51 - Reims (France)

    1997-05-01

    Although Huntington`s disease was described in 1872, its diagnosis continues to rest on clinical grounds. Recently developed techniques for imaging the brain (computed tomography and magnetic resonance imaging) or studying its function (single photon emission computed tomography and positron emission tomography) have demonstrated only non specific abnormalities at the early stages of the disease, thus failing to improve the pre-symptomatic diagnosis. Neuro-physiologic investigations (evoked potentials, electromyogram, electroencephalogram) have been similarly unrewarding. Investigations are useful only as an laid to the differential diagnosis. Molecular biology technology is the only available tool for identifying high-risk individuals and establishing a definitive diagnosis of Huntington`s disease. (authors). 10 refs.

  18. Trophic niche shifts driven by phytoplankton in sandy beach ecosystems

    Science.gov (United States)

    Bergamino, Leandro; Martínez, Ana; Han, Eunah; Lercari, Diego; Defeo, Omar

    2016-10-01

    Stable isotopes (δ13C and δ15N) together with chlorophyll a and densities of surf diatoms were used to analyze changes in trophic niches of species in two sandy beaches of Uruguay with contrasting morphodynamics (i.e. dissipative vs. reflective). Consumers and food sources were collected over four seasons, including sediment organic matter (SOM), suspended particulate organic matter (POM) and the surf zone diatom Asterionellopsis guyunusae. Circular statistics and a Bayesian isotope mixing model were used to quantify food web differences between beaches. Consumers changed their trophic niche between beaches in the same direction of the food web space towards higher reliance on surf diatoms in the dissipative beach. Mixing models indicated that A. guyunusae was the primary nutrition source for suspension feeders in the dissipative beach, explaining their change in dietary niche compared to the reflective beach where the proportional contribution of surf diatoms was low. The high C/N ratios in A. guyunusae indicated its high nutritional value and N content, and may help to explain the high assimilation by suspension feeders at the dissipative beach. Furthermore, density of A. guyunusae was higher in the dissipative than in the reflective beach, and cell density was positively correlated with chlorophyll a only in the dissipative beach. Therefore, surf diatoms are important drivers in the dynamics of sandy beach food webs, determining the trophic niche space and productivity. Our study provides valuable insights on shifting foraging behavior by beach fauna in response to changes in resource availability.

  19. The effect of beach slope on tidal influenced saltwater intrusion

    Science.gov (United States)

    Zhao, Z.; Shen, C.; Jin, G.; Xin, P.; Hua, G.; Tao, X.; Zhao, J.

    2015-12-01

    Beach slope changes the tidal induced saltwater-freshwater circulations in coastal aquifers. However, the effect of beach slope on tidal influenced saltwater-freshwater mixing process is far from understood. Based on sand flume experiments and numerical simulations, we investigated the intrusion process of saltwater into freshwater under tidal forcing and variable beach slopes. The sand flume experiment results show that milder slope induces larger upper saline plume (USP) and seaward salt wedge interface (SWI) under tidal forcing. While, the steady state SWI keeps stagnant with different beach slopes. Consistent with the previous research, our numerical simulations also show a lager flux exchange across the milder beach induced by the tidal fluctuations. The groundwater table fluctuates more intensify with deeper beach slope. The next step of our study will pay attention to the effect of beach slope on the instability of USP which induces the salt-fingering flow.

  20. Mexican Americans and the American Nation: A Response to Professor Huntington

    Science.gov (United States)

    Telles, Edward

    2006-01-01

    This essay is based on a talk I delivered at Texas A&M University on December 10, 2005, in response to an earlier lecture at the university by Professor Samuel P. Huntington. It relies on social science evidence to first address Huntington's contention that Mexicans are overwhelming American borders. It then turns to evidence that Mexican…

  1. PROBLEMS OF MODERNIZATION IN THE WORKS OF S. HUNTINGTON: THEORY AND PRACTICE

    Directory of Open Access Journals (Sweden)

    Britikova E. A.

    2016-06-01

    Full Text Available The article discusses the interpretation of the mechanisms of modernization of the American scientist - Samuel Huntington, which sees modernization as a complex process with a very uncertain result. As a representative of the multilinear approach, Samuel Huntington proves the uniqueness of the modernization paths of each individual national system

  2. Huntington Disease: A Case Study of Early Onset Presenting as Depression

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-01-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and…

  3. Huntington disease and Huntington disease-like in a case series from Brazil.

    Science.gov (United States)

    Castilhos, R M; Souza, A F D; Furtado, G V; Gheno, T C; Silva, A L; Vargas, F R; Lima, M-A F D; Barsottini, O; Pedroso, J L; Godeiro, C; Salarini, D; Pereira, E T; Lin, K; Toralles, M-B; Saute, J A M; Rieder, C R; Quintas, M; Sequeiros, J; Alonso, I; Saraiva-Pereira, M L; Jardim, L B

    2014-10-01

    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

  4. Mesoscale Morphological Change, Beach Rotation and Storm Climate Influences along a Macrotidal Embayed Beach

    Directory of Open Access Journals (Sweden)

    Tony Thomas

    2015-09-01

    Full Text Available Cross-shore profiles and environmental forcing were used to analyse morphological change of a headland bay beach: Tenby, West Wales (51.66 N; −4.71 W over a mesoscale timeframe (1996–2013. Beach profile variations were attuned with longer term shoreline change identified by previous research showing southern erosion and northern accretion within the subaerial zone and were statistically significant in both sectors although centrally there was little or no significance. Conversely a statistically significant volume loss was shown at all profile locations within the intertidal zone. There were negative phase relationships between volume changes at the beach extremities, indicative of beach rotation and results were statistically significant (p < 0.01 within both subaerial (R2 = 0.59 and intertidal (R2 = 0.70 zones. This was confirmed qualitatively by time-series analysis and further cross correlation analysis showed trend reversal time-lagged associations between sediment exchanges at either end of the beach. Wave height and storm events displayed summer/winter trends which explained longer term one directional rotation at this location. In line with previous regional research, environmental forcing suggests that imposed changes are influenced by variations in southwesterly wind regimes. Winter storms are generated by Atlantic southwesterly winds and cause a south toward north sediment exchange, while southeasterly conditions that cause a trend reversal are generally limited to the summer period when waves are less energetic. Natural and man-made embayed beaches are a common coastal feature and many experience shoreline changes, jeopardising protective and recreational beach functions. In order to facilitate effective and sustainable coastal zone management strategies, an understanding of the morphological variability of these systems is needed. Therefore, this macrotidal research dealing with rotational processes across the entire intertidal

  5. Measurement of caudate nucleus area - a more accurate measurement for Huntington's disease

    Energy Technology Data Exchange (ETDEWEB)

    Wardlaw, J.M.; Abernethy, L.J. (Royal Infirmary, London (United Kingdom). Dept. of Radiology); Sellar, R.J. (Western General Hospital, Edinburgh (United Kingdom). Dept. of Neuroradiology)

    1991-08-01

    Caudate nucleus atrophy occurs in Huntington's disease and methods of measuring this have been described using axial CT, but these are indirect and lack sensitivity. We measured caudate nucleus area (blind to the subjects' clinical state) in 30 subjects with or at risk of Huntington's disease, and in 100 normal age matched controls. Fifteen subjects with established symptomatic Huntington's disease, 3 with early symptoms, and 3 presymptomatic subjects (2 showing a high probability for the Huntington's disease gene on genetic testing, and one who has since developed symptoms) were correctly identified. Three normal (gene negative) family members were also correctly identified. Outcome is awaited in 6. CT caudate area measurement is simple and reproducible and we have found it to be a useful confirmatory test for Huntington's disease. (orig.).

  6. Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK.

    Science.gov (United States)

    Lashwood, A; Flinter, F

    2001-01-01

    Huntington's disease is an autosomal dominant neurodegenerative disorder that usually occurs in adult life. Individuals at risk can have a gene test before the onset of symptoms, and prenatal diagnosis is available. Preimplantation genetic diagnosis (PGD) for Huntington's disease is now available for couples in whom one partner has the gene for Huntington's disease. A licence to practise PGD is required from the Human Fertilisation and Embryology Authority, and there are several complex issues relating to PGD for Huntington's disease that require consideration. The partner of the Huntington's disease gene carrier should have a presymptomatic test to ensure accuracy in a PGD cycle. There should be a delay between blood sampling and testing for Huntington's disease to allow time for reflection and withdrawal from testing. All PGD treatment has an associated risk of misdiagnosis. If confirmatory prenatal testing is not undertaken after a successful PGD cycle, no confirmation of diagnosis will be obtained at birth. Guidelines indicate that individuals who are at risk cannot be tested before 18 years. There is concern over the ability of a child or adolescent to make an informed choice about testing before this age. Confirmatory testing at birth after PGD would be in direct contravention of these guidelines. In the UK, the law requires consideration of the welfare of children born after assisted conception treatment. Presenting symptoms of Huntington's disease may affect the parenting abilities of an affected individual. There is a need for an assessment of a patient's current Huntington's disease status and their planned provision of care of children if Huntington's disease affects parenting. It has been necessary to create a detailed working protocol for the management of PGD for Huntington's disease to address these issues.

  7. Integrated protecting plan for beach erosion. A case study in Plaka beach, E. Crete, Greece

    Science.gov (United States)

    Petrakis, Stelios; Alexandrakis, George; Kozyrakis, George; Hatziyanni, Eleni; Kampanis, Nikolaos

    2015-04-01

    Coastal zones are among the most active areas on Earth, being subjected to extreme wind / wave conditions, thus vulnerable to erosion. In Greece and Crete in particular, beach zones are extremely important for the welfare of the inhabitants, since, apart for the important biological and archaeological value of the beach zones, the socio-economic value is critical since a great number of human activities are concentrated in such areas (touristic facilities, fishing harbors etc.). The present study investigates the erosional procedures observed in Plaka beach, E. Crete, Greece, a highly touristic developed area with great archaeological interest and proposes a cost-effective solution. The factors taken into consideration for the proposed solution in reducing the erosion of the beach were the study of the climatological, geological and geomorphological regime of the area, the recent (~70 years) shifting of the coastline through the study of topographic maps, aerial photographs and satellite images, the creation of detailed bathymetric and seabed classification maps of the area and finally, a risk analysis in terms of erosional phenomena. On the basis of the above, it is concluded that the area under investigation is subjected to an erosional rate of about 1 m/10 years and the total land-loss for the past 70 years is about 4600 m2. Through the simulation of the wave regime we studied 3 possible scenarios, the "do-nothing" scenario, the construction of a detached submerged breakwater at the depth of 3 meters and, finally, the armoring of the existing beach-wall through the placement of appropriate size and material boulders, forming an artificial slope for the reducing of the wave breaking energy and a small scale nourishment plan. As a result, through the modeling of the above, the most appropriate and cost-effective solution was found to be the third, armoring of the existing coastal wall and nourishment of the beach periodically, thus the further undermining of the

  8. A Different Shade Of Blue: An Evaluation Of The Civilian Detective Concept And Its Impact On Police Capabilities

    Science.gov (United States)

    2016-03-01

    DC: Government Accountability Office, 2014), 1–2, http://www.gao.gov/products/GAO-15-224SP. 13 Costa Mesa, Huntington Beach, Placentia, Santa Ana ...law enforcement departments were selected for evaluation: Costa Mesa, California; Huntington Beach, California; Placentia, California; Santa Ana ...Petersilia, The Criminal Investigation Process (P-5628-1) (Santa Monica, CA: RAND, 1976), http://www.rand.org/pubs/papers/P5628-1.html. 54 Frank

  9. Mauritius: A journey from beach to laboratory

    Digital Repository Service at National Institute of Oceanography (India)

    Mukhopadhyay, R.

    and fun-filled sunny golden beach-centered tourism. However, despite having an Exclusive Economic Zone (EEZ) thousand times its landmass, the ocean based economic activities contributing to the Gross National Product of Mauritius have been... unfortunately insignificant. Considering the facts that Mauritius is one of the most densely populated countries in the world and does not have any known land-based mineral resources, exploitation of oceanic resources will probably follow as the next phase...

  10. Beach and Morphology Change Using Lidar

    Science.gov (United States)

    2016-11-01

    were imported as (x, y, z) scatter points into the Scatter Module of the SMS (Figure 3) decimated by 5 meters (m) in the cross- shore and 50 m in...morphodynamics of sandy and mixed sand and gravel beaches. Graduate thesis and dissertation. Tampa, FL: University of South Florida. http...Engineers (USACE), Jacksonville District (SAJ). 2010. Pinellas County, Florida, shore protection project: Long Key & Treasure Island segments, 2006

  11. Tidal flow separation at protruding beach nourishments

    Science.gov (United States)

    Radermacher, Max; de Schipper, Matthieu A.; Swinkels, Cilia; MacMahan, Jamie H.; Reniers, Ad J. H. M.

    2017-01-01

    In recent years, the application of large-scale beach nourishments has been discussed, with the Sand Motor in the Netherlands as the first real-world example. Such protruding beach nourishments have an impact on tidal currents, potentially leading to tidal flow separation and the generation of tidal eddies of length scales larger than the nourishment itself. The present study examines the characteristics of the tidal flow field around protruding beach nourishments under varying nourishment geometry and tidal conditions, based on extensive field observations and numerical flow simulations. Observations of the flow field around the Sand Motor, obtained with a ship-mounted current profiler and a set of fixed current profilers, show that a tidal eddy develops along the northern edge of the mega-nourishment every flood period. The eddy is generated around peak tidal flow and gradually gains size and strength, growing much larger than the cross-shore dimension of the coastline perturbation. Based on a 3 week measurement period, it is shown that the intensity of the eddy modulates with the spring-neap tidal cycle. Depth-averaged tidal currents around coastline perturbations are simulated and compared to the field observations. The occurrence and behavior of tidal eddies is derived for a large set of simulations with varying nourishment size and shape. Results show that several different types of behavior exist, characterized by different combinations of the nourishment aspect ratio, the size of the nourishment relative to the tidal excursion length, and the influence of bed friction.

  12. Spectral signatures for swash on reflective, intermediate and dissipative beaches

    DEFF Research Database (Denmark)

    Hughes, Michael G; Aagaard, Troels; Baldock, Tom E

    2014-01-01

    In this paper we synthesise a large data set gathered from a wide variety of field deployments and integrate it with previously published results to identify the spectral signatures of swash from contrasting beach types. The field data set includes the full range of micro-tidal beach types...... the three beach types. Swash energy at short-wave frequencies is dominant on reflective and intermediate beaches and swash at long-wave frequencies is dominant on dissipative beaches; consistent with previously reported spectral signatures for the surf zone on these beach types. The available swash spectra...... were classified using an automated algorithm (CLARA) into five different classes. The ordered classes represent an evolution in the spectrum shape, described by a frequency downshifting of the energy peak from the short-wave into the long-wave frequency band and an increase in the long-wave swash...

  13. Current status of PET imaging in Huntington's disease.

    Science.gov (United States)

    Pagano, Gennaro; Niccolini, Flavia; Politis, Marios

    2016-06-01

    To review the developments of recent decades and the current status of PET molecular imaging in Huntington's disease (HD). A systematic review of PET studies in HD was performed. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 19 August 2015 using the major medical subject heading "Huntington Disease" combined with text and key words "Huntington Disease", "Neuroimaging" and "PET". Only peer-reviewed, primary research studies in HD patients and premanifest HD carriers, and studies in which clinical features were described in association with PET neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded. A total of 54 PET studies were identified and analysed in this review. Brain metabolism ([(18)F]FDG and [(15)O]H2O), presynaptic ([(18)F]fluorodopa, [(11)C]β-CIT and [(11)C]DTBZ) and postsynaptic ([(11)C]SCH22390, [(11)C]FLB457 and [(11)C]raclopride) dopaminergic function, phosphodiesterases ([(18)F]JNJ42259152, [(18)F]MNI-659 and [(11)C]IMA107), and adenosine ([(18)F]CPFPX), cannabinoid ([(18)F]MK-9470), opioid ([(11)C]diprenorphine) and GABA ([(11)C]flumazenil) receptors were evaluated as potential biomarkers for monitoring disease progression and for assessing the development and efficacy of novel disease-modifying drugs in premanifest HD carriers and HD patients. PET studies evaluating brain restoration and neuroprotection were also identified and described in detail. Brain metabolism, postsynaptic dopaminergic function and phosphodiesterase 10A levels were proven to be powerful in assessing disease progression. However, no single technique may be currently considered an optimal biomarker and an integrative multimodal imaging approach combining different techniques should be developed for monitoring potential neuroprotective and preventive treatment in HD.

  14. The Usumacinta-Grijalva beach-ridge plain in southern Mexico: a high-resolution archive of river discharge and precipitation

    Science.gov (United States)

    Nooren, Kees; Hoek, Wim Z.; Winkels, Tim; Huizinga, Annika; Van der Plicht, Hans; Van Dam, Remke L.; Van Heteren, Sytze; Van Bergen, Manfred J.; Prins, Maarten A.; Reimann, Tony; Wallinga, Jakob; Cohen, Kim M.; Minderhoud, Philip; Middelkoop, Hans

    2017-09-01

    The beach-ridge sequence of the Usumacinta-Grijalva delta borders a 300 km long section of the southern Gulf of Mexico coast. With around 500 beach ridges formed in the last 6500 years, the sequence is unsurpassed in the world in terms of numbers of individual ridges preserved, continuity of the record, and temporal resolution. We mapped and dated the most extensively accreted part of the sequence, linking six phases of accretion to river mouth reconfigurations and constraining their ages with 14C and OSL dating. The geomorphological and sedimentological reconstruction relied on lidar data, coring transects, GPR measurements, grain-size analyses, and chemical fingerprinting of volcanic glass and pumice encountered within the beach and dune deposits. We demonstrate that the beach-ridge complex was formed under ample long-term fluvial sediment supply and shorter-term wave- and aeolian-modulated sediment reworking. The abundance of fluvially supplied sand is explained by the presence of easily weatherable Los Chocoyos ignimbrites from the ca. 84 ka eruption of the Atitlán volcano (Guatemala) in the catchment of the Usumacinta River. Autocyclic processes seem responsible for the formation of ridge-swale couplets. Fluctuations in their periodicity (ranging from 6-19 years) are governed by progradation rate, and are therefore not indicative of sea level fluctuations or variability in storm activity. The fine sandy beach ridges are mainly swash built. Ridge elevation, however, is strongly influenced by aeolian accretion during the time the ridge is located next to the beach. Beach-ridge elevation is negatively correlated with progradation rate, which we relate to the variability in sediment supply to the coastal zone, reflecting decadal-scale precipitation changes within the river catchment. In the southern Mexican delta plain, the coastal beach ridges therefore appear to be excellent recorders of hinterland precipitation.

  15. The Usumacinta–Grijalva beach-ridge plain in southern Mexico: a high-resolution archive of river discharge and precipitation

    Directory of Open Access Journals (Sweden)

    K. Nooren

    2017-09-01

    Full Text Available The beach-ridge sequence of the Usumacinta–Grijalva delta borders a 300 km long section of the southern Gulf of Mexico coast. With around 500 beach ridges formed in the last 6500 years, the sequence is unsurpassed in the world in terms of numbers of individual ridges preserved, continuity of the record, and temporal resolution. We mapped and dated the most extensively accreted part of the sequence, linking six phases of accretion to river mouth reconfigurations and constraining their ages with 14C and OSL dating. The geomorphological and sedimentological reconstruction relied on lidar data, coring transects, GPR measurements, grain-size analyses, and chemical fingerprinting of volcanic glass and pumice encountered within the beach and dune deposits. We demonstrate that the beach-ridge complex was formed under ample long-term fluvial sediment supply and shorter-term wave- and aeolian-modulated sediment reworking. The abundance of fluvially supplied sand is explained by the presence of easily weatherable Los Chocoyos ignimbrites from the ca. 84 ka eruption of the Atitlán volcano (Guatemala in the catchment of the Usumacinta River. Autocyclic processes seem responsible for the formation of ridge–swale couplets. Fluctuations in their periodicity (ranging from 6–19 years are governed by progradation rate, and are therefore not indicative of sea level fluctuations or variability in storm activity. The fine sandy beach ridges are mainly swash built. Ridge elevation, however, is strongly influenced by aeolian accretion during the time the ridge is located next to the beach. Beach-ridge elevation is negatively correlated with progradation rate, which we relate to the variability in sediment supply to the coastal zone, reflecting decadal-scale precipitation changes within the river catchment. In the southern Mexican delta plain, the coastal beach ridges therefore appear to be excellent recorders of hinterland precipitation.

  16. Shifts in the microbial community composition of Gulf Coast beaches following beach oiling.

    Directory of Open Access Journals (Sweden)

    Ryan J Newton

    Full Text Available Microorganisms associated with coastal sands serve as a natural biofilter, providing essential nutrient recycling in nearshore environments and acting to maintain coastal ecosystem health. Anthropogenic stressors often impact these ecosystems, but little is known about whether these disturbances can be identified through microbial community change. The blowout of the Macondo Prospect reservoir on April 20, 2010, which released oil hydrocarbons into the Gulf of Mexico, presented an opportunity to examine whether microbial community composition might provide a sensitive measure of ecosystem disturbance. Samples were collected on four occasions, beginning in mid-June, during initial beach oiling, until mid-November from surface sand and surf zone waters at seven beaches stretching from Bay St. Louis, MS to St. George Island, FL USA. Oil hydrocarbon measurements and NOAA shoreline assessments indicated little to no impact on the two most eastern beaches (controls. Sequence comparisons of bacterial ribosomal RNA gene hypervariable regions isolated from beach sands located to the east and west of Mobile Bay in Alabama demonstrated that regional drivers account for markedly different bacterial communities. Individual beaches had unique community signatures that persisted over time and exhibited spatial relationships, where community similarity decreased as horizontal distance between samples increased from one to hundreds of meters. In contrast, sequence analyses detected larger temporal and less spatial variation among the water samples. Superimposed upon these beach community distance and time relationships, was increased variability in bacterial community composition from oil hydrocarbon contaminated sands. The increased variability was observed among the core, resident, and transient community members, indicating the occurrence of community-wide impacts rather than solely an overprinting of oil hydrocarbon-degrading bacteria onto otherwise

  17. El trabajo interdisciplinar en la enfermedad de Huntington

    OpenAIRE

    Fernández Hawrylak, María; Grau Rubio, Claudia; Hernández Lozano, David; Fernández Sastre, Beatriz

    2014-01-01

    Se argumenta la importancia del trabajo en equipo en la atención de las personas afectadas por la Enfermedad de Huntington y de sus familias, y se describen las principales funciones de los distintos profesionales que han de cubrir sus necesidades en cada una de las etapas de la enfermedad en función de las alteraciones y secuelas. Siguiendo esta premisa, se presenta el trabajo de intervención basado en la complementariedad de distintos profesionales que atienden y cuidan a las personas afect...

  18. ENFERMEDAD DE HUNTINGTON: MODELOS EXPERIMENTALES Y PERSPECTIVAS TERAPÉUTICAS

    OpenAIRE

    TERESA SERRANO SÁNCHEZ; LISETTE BLANCO LEZCANO; ROCÍO GARCÍA MINET; ESTEBAN ALBERTI AMADOR; IVÁN DÍAZ ARMESTO; NANCY PAVÓN FUENTE; LOURDES LORIGADOS PEDRE; MARÍA ELENA GONZÁLEZ FRAGUELA; JORGE FELIPE MONTERO LEÓN; LISIS MARTÍNEZ MARTÍ; MARÍA DE LOS ANGELES ROBINSON AGRAMONTE; LILIANA FRANCIS TURNER

    2011-01-01

    La enfermedad de Huntington (EH) es un trastorno degenerativo de Weiss de origen hereditario. Hasta el momento no existe un tratamiento efectivo para la enfermedad que inexorablemente después de transcurridos 15 a 20 años, evoluciona hacia incapa- cidad total o muerte. En este trabajo se revisan las características clínicas y morfológicas de la EH y los modelos experimentales más utilizados para su estudio tomando como fuente, artículos indexados en la base de datos Medline publicados en los ...

  19. Huntington's disease as caused by 34 CAG repeats.

    Science.gov (United States)

    Andrich, Jürgen; Arning, Larissa; Wieczorek, Stefan; Kraus, Peter H; Gold, Ralf; Saft, Carsten

    2008-04-30

    Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.

  20. Polyglutamine Aggregation in Huntington Disease: Does Structure Determine Toxicity?

    Science.gov (United States)

    Hoffner, Guylaine; Djian, Philippe

    2015-12-01

    Huntington disease is a dominantly inherited disease of the central nervous system. The mutational expansion of polyglutamine beyond a critical length produces a toxic gain of function in huntingtin and results in neuronal death. In the course of the disease, expanded huntingtin is proteolyzed, becomes abnormally folded, and accumulates in oligomers, fibrils, and microscopic inclusions. The aggregated forms of the expanded protein are structurally diverse. Structural heterogeneity may explain why polyglutamine-containing aggregates could paradoxically be either toxic or neuroprotective. When defined, the toxic structures could then specifically be targeted by prophylactic or therapeutic drugs aimed at inhibiting polyglutamine aggregation.

  1. Reduced gluconeogenesis and lactate clearance in Huntington's disease

    DEFF Research Database (Denmark)

    Josefsen, Knud; Nielsen, Signe M B; Campos, André

    2010-01-01

    We studied systemic and brain glucose and lactate metabolism in Huntington's disease (HD) patients in response to ergometer cycling. Following termination of exercise, blood glucose increased abruptly in control subjects, but no peak was seen in any of the HD patients (2.0 ± 0.5 vs. 0.0 ± 0.2mM, P...... for gluconeogenesis in HD, possibly contributing to the clinical symptoms of HD. We propose that blood glucose concentration in the recovery from exercise can be applied as a liver function test in HD patients....

  2. The Cambridge MRI database for animal models of Huntington disease.

    Science.gov (United States)

    Sawiak, Stephen J; Morton, A Jennifer

    2016-01-01

    We describe the Cambridge animal brain magnetic resonance imaging repository comprising 400 datasets to date from mouse models of Huntington disease. The data include raw images as well as segmented grey and white matter images with maps of cortical thickness. All images and phenotypic data for each subject are freely-available without restriction from (http://www.dspace.cam.ac.uk/handle/1810/243361/). Software and anatomical population templates optimised for animal brain analysis with MRI are also available from this site.

  3. Impacts of Hurricane Ike on the beaches of the Bolivar Peninsula, TX, USA

    Science.gov (United States)

    Sherman, Douglas J.; Hales, Billy U.; Potts, Michael K.; Ellis, Jean T.; Liu, Hongxing; Houser, Chris

    2013-10-01

    Hurricane Ike caused substantial beach erosion along the coast of the Bolivar Peninsula, TX. Much of the erosion was caused by the offshore (ebb) flow of the ca. 5 m storm surge that formed spatially discrete scour features. Using aerial photography and repeat LiDAR data, we identify five types of scour features and describe the alongshore distribution in four flow environments. Type 1 scours are relatively small and compact features associated mainly with flow off a wide, vegetated (grasses, shrubs, trees) surface across a wide beach. Type 2 scours are large and branching forms associated mainly with flow that was channeled by streets or gaps between structures. Type 3 scours are large and blocky features associated with flow off a marsh surface, across a highway, which removed almost all beach sands from the surface. Type 4 scours are elongated, shore perpendicular channels associated with the same flow characteristics as Type 3 scours. Type 5 scours are elongated, shore-perpendicular features, sometimes branching, associated with flow through gaps in a destroyed shore protection structure. Repeat imagery indicates that many of the features persisted for at least seven months. Recent aerial photography indicates that aspects of some features remained evident more than three years after Ike's landfall.

  4. Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

    Science.gov (United States)

    Miller, James R C; Träger, Ulrike; Andre, Ralph; Tabrizi, Sarah J

    2015-01-01

    Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis. However, it is not clear whether or to what extent the adaptive immune system is also involved. Here, we carry out the first comprehensive investigation of human ex vivo T lymphocytes in Huntington's disease, focusing on the frequency of a range of T lymphocyte subsets, as well as analysis of proliferation, cytokine production and gene transcription. In contrast to the innate immune system, the intrinsic phenotype of T lymphocytes does not appear to be affected by the presence of mutant huntingtin, with Huntington's disease T lymphocytes exhibiting no significant functional differences compared to control cells. The transcriptional profile of T lymphocytes also does not appear to be significantly affected, suggesting that peripheral immune dysfunction in Huntington's disease is likely to be mediated primarily by the innate rather than the adaptive immune system. This study increases our understanding of the effects of Huntington's disease on peripheral tissues, while further demonstrating the differential effects of the mutant protein on different but related cell types. Finally, this study suggests that the potential use of novel therapeutics aimed at modulating the Huntington's disease innate immune system should not be extended to include the adaptive immune system.

  5. Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

    Directory of Open Access Journals (Sweden)

    James R C Miller

    Full Text Available Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis. However, it is not clear whether or to what extent the adaptive immune system is also involved. Here, we carry out the first comprehensive investigation of human ex vivo T lymphocytes in Huntington's disease, focusing on the frequency of a range of T lymphocyte subsets, as well as analysis of proliferation, cytokine production and gene transcription. In contrast to the innate immune system, the intrinsic phenotype of T lymphocytes does not appear to be affected by the presence of mutant huntingtin, with Huntington's disease T lymphocytes exhibiting no significant functional differences compared to control cells. The transcriptional profile of T lymphocytes also does not appear to be significantly affected, suggesting that peripheral immune dysfunction in Huntington's disease is likely to be mediated primarily by the innate rather than the adaptive immune system. This study increases our understanding of the effects of Huntington's disease on peripheral tissues, while further demonstrating the differential effects of the mutant protein on different but related cell types. Finally, this study suggests that the potential use of novel therapeutics aimed at modulating the Huntington's disease innate immune system should not be extended to include the adaptive immune system.

  6. Chenang Beach and its Crowding Capacity: A Malaysian Perspective

    Directory of Open Access Journals (Sweden)

    Mohamad Diana

    2014-01-01

    Full Text Available This working paper focuses in enjoyment factors, specifically: number of beach users, perceived maximum number of beach users accepted, perceived maximum number of beach users that affects the tourism experience and perceived maximum number of beach users that affects the beach quality. At a deeper extent, the evaluation is categorized by number of visitation, visitation motivations, and Chenang Island’s push and pull factors. Relationships between variables were assessed using a two-phase evaluation framework where interestingly, only one demographic factor works with all the studied independent variables. It is also learned that the density of an area number of people seen is considered as a n accepted crowding factor, as opposed to this working paper scope experienced crowding . A unique relationship was observed for crowding level, and visitation satisfaction level and overall evaluation of Chenang beach quality. This working paper further supports the previous literature on the significance of beach carrying capacity management and it is learned that the idea of crowding standard is interlinks with ‘gender, ‘time spend’ and ‘number of boaters’. From findings, this working paper envisages the preferences polar exchange where this should be of interest to tourism-related personnel. It is within this working paper interest to highlight the pressing need in brandishing the image of Chenang Beach. This is to ensure that Chenang Beach, as a field, is maintaining its importance and popularity.

  7. Moving towards an ecological management of the beaches

    OpenAIRE

    Vanhooren, S.; Maelfait, H.; Belpaeme, K.

    2011-01-01

    The Belgian coast has an enormous touristic potential with over 16 million people visiting the coast for a day-trip and a turnover of more than 2500 Million. The ecological value of the beaches is at risk, caused by an extensive use of mechanical beach cleaners. Mechanical beach cleaners not only remove most of the man-produced waste, but unfortunately also take away organic material. Management for more sustainable beaches is necessary, because coastal communities spend yearly over 10.000 pe...

  8. Shore litter along sandy beaches of the Gulf of Oman.

    Science.gov (United States)

    Claereboudt, Michel R

    2004-11-01

    Beach debris abundance and weight were estimated from surveys on 11 beaches of the Gulf of Oman along the Omani coast. Debris were collected on two occasions from 100 m transects, sorted and categorized by origin and type. Overall contaminations ranged from 0.43 to 6.01 items m(-1) of beach front on different beaches with a mean value of 1.79+/-1.04 gm(-1) (95% C.I). In terms of weight, contamination levels ranged from 7.8 to 75.44 gm(-1) of beach front with a mean contamination of 27.02+/-14.48 gm(-1) (95% C.I). In terms of numbers of items, plastic debris ranked first on all beaches followed by either wood items or other organic materials such as cigarette butts. Industrial debris remained few on all beaches (<10%). Most debris had a local origin and, in terms of numbers, were associated with beach recreational activities whereas fishing debris represented the largest proportion of the debris in terms of weight. There were notable differences between beaches in the relative abundance of recreation-related and fishing-related debris.

  9. Predicting Fecal Indicator Bacteria Concentrations in the South Fork Broad River Watershed Using Virtual Beach

    Science.gov (United States)

    Virtual Beach (VB) is a decision support tool that constructs site-specific statistical models to predict fecal indicator bacteria (FIB) at recreational beaches. Although primarily designed for making decisions regarding beach closures or issuance of swimming advisories based on...

  10. Predicting Fecal Indicator Bacteria Concentrations in the South Fork Broad River Watershed Using Virtual Beach

    Science.gov (United States)

    Virtual Beach (VB) is a decision support tool that constructs site-specific statistical models to predict fecal indicator bacteria (FIB) at recreational beaches. Although primarily designed for making decisions regarding beach closures or issuance of swimming advisories based on...

  11. Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.

    OpenAIRE

    1993-01-01

    World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. Only 5% of those at risk have been tested in six countries with the longest established programmes. Continued monitoring of international data will be of value in assessing the s...

  12. Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing.

    Science.gov (United States)

    Yu, S; Fimmel, A; Fung, D; Trent, R J

    2000-12-01

    Five of 400 patients (1.3%), referred for Huntington disease DNA testing, demonstrated a single allele on CAG alone, but two alleles when the CAG + CCG repeats were measured. The PCR assay failed to detect one allele in the CAG alone assay because of single-base silent polymorphisms in the penultimate or the last CAG repeat. The region around and within the CAG repeat sequence in the Huntington disease gene is a hot-spot for DNA polymorphisms, which can occur in up to 1% of subjects tested for Huntington disease. These polymorphisms may interfere with amplification by PCR, and so have the potential to produce a diagnostic error.

  13. The influence of anthropic actions on the evolution of an urban beach: Case study of Marineta Cassiana beach, Spain.

    Science.gov (United States)

    Pagán, J I; Aragonés, L; Tenza-Abril, A J; Pallarés, P

    2016-07-15

    Coastal areas have been historically characterized as being a source of wealth. Nowadays, beaches have become more relevant as a place for rest and leisure. This had led to a very high population pressure due to rapid urbanisation processes. The impacts associated with coastal tourism, demand the development of anthropic actions to protect the shoreline. This paper has studied the impacts of these actions on the Marineta Cassiana beach, in Denia, Spain. This particular Mediterranean beach has traditionally suffered a major shoreline regression, and the beach nourishments carried out in the 1980s would not have achieved the reliability desired. This research has analysed the historic evolution of the beach and its environment for a period of 65years (1950-2015). A Geographic Information System (GIS) has been used to integrate and perform a spatial analysis of urban development, soil erosion, stream flow, swell, longshore transport, submerged vegetation species and shoreline evolution. The results show how the anthropic actions have affected the shoreline. After the excessive urban development of the catchments, there is no natural sediment supply to the beach. The change in the typology of the sediment, from pebbles to sand, during the beach nourishments has led to a crucial imbalance in the studied area. Moreover, the beach area gained has disappeared, affecting the Posidonia oceanica meadow, and incrementing the erosion rates. The findings obtained are relevant, not only in the management and maintenance of the beaches, but also, in the decision-making for future nourishments.

  14. Presymptomatic diagnosis in Huntington's disease: the Mexican experience.

    Science.gov (United States)

    Alonso, Maria Elisa; Ochoa, Adriana; Sosa, Ana Luisa; Rodríguez, Yaneth; Chávez, Mireya; Boll, Catherine; Yescas, Petra; Macías, Rosario; Rasmussen, Astrid

    2009-12-01

    Huntington's disease (HD) is an autosomal dominant progressive, disabling neurodegenerative disorder, for which there is no effective treatment. Predictive testing (PT) for this illness began in 1986 and by 1993 it became more precise after cloning of the gene and the discovery of a CAG repeat expansion as the underlying cause. The objective of this paper is to illustrate the implementation and results of a PT program in a group of at-risk Mexican individuals with 12 years of follow-up. Our PT program conforms to the guidelines proposed by the International Huntington Association and the HD Working group of the World Federation of Neurology. Seventy-five individuals requested the testing, four of them did not fulfill the inclusion criteria, and five abandoned the program voluntarily before receiving the test results. Therefore, 66 results were delivered to 41 noncarriers and 25 mutation carriers. We did not have any catastrophic event, but 4 individuals with normal results and 11 mutation carriers were depressed. Even if this is a small sample, it is the first report of PT in a Latin-American population in which we have been faced with the same problems referred to in larger series.

  15. Pluripotent Stem Cells Models for Huntington's Disease: Prospects and Challenges

    Institute of Scientific and Technical Information of China (English)

    Richard L. Carter; Anthony W.S. Chan

    2012-01-01

    Pluripotent cellular models have shown great promise in the study of a number of neurological disorders.Several advantages of using a stem cell model include the potential for cells to derive disease relevant neuronal cell types,providing a system for researchers to monitor disease progression during neurogenesis,along with serving as a platform for drug discovery.A number of stem cell derived models have been employed to establish in vitro research models of Huntington's disease that can be used to investigate cellular pathology and screen for drug and cell-based therapies.Although some progress has been made,there are a number of challenges and limitations that must be overcome before the true potential of this research strategy is achieved,In this article we review current stem cell models that have been reported,as well as discuss the issues that impair these studies.We also highlight the prospective application of Huntington's disease stem cell models in the development of novel therapeutic strategies and advancement of personalized medicine.

  16. Progress in studies of gene therapy for Huntington's disease

    Directory of Open Access Journals (Sweden)

    JIN Fan-ying

    2012-06-01

    Full Text Available Huntington's disease (HD is a kind of inherited neurodegenerative disorder characterized by movement problems, cognitive decline and psychiatry disturbance. HD is caused by mutation in gene IT -15 involving the expansion of a trinucleotide (CAG repeat encoding glutamine, which leads to abnormal conformation of huntingtin (Htt protein and finally emerge cytotoxic functions. Currently, HD remains a fatal untreatable disease. Gene therapy for HD discussed in this review is under preclinical studies. Silencing of mutant IT-15 via RNA interference (RNAi or antisense oligonucleotide (ASO has shown some effectiveness in mouse model studies. Increasing the clearance of mutant Htt protein could be achieved by viral-mediated delivery of anti-Htt intrabodies (iAbs or induction of autophagy, and beneficial results have been observed. Ectopic expression of neurotrophic factors, such as nerve growth factor (NGF and brain-derived neurotrophic factor (BDNF, mediated either by viral vectors or transplantation of genetically modified cells, has also been proved to be effective. Other gene-modifying methods aiming at correction of transcriptional dysregulation by histone modification, activation of endogenous neural stem cells, and normalization of calcium signaling and mitochondrial function, are also under intensive research. Gene therapy for Huntington's disease is promising, yet a long way remains from preclinical studies to clinical trials.

  17. Clinical diagnosis and management in early Huntington's disease: a review

    Directory of Open Access Journals (Sweden)

    Schiefer J

    2015-03-01

    Full Text Available Johannes Schiefer,1,* Cornelius J Werner,1,* Kathrin Reetz1,2 1Euregional Huntington Center, 2Jülich Aachen Research Alliance (JARA – Translational Brain Medicine, Department of Neurology, RWTH Aachen University, Aachen, Germany *These authors contributed equally to this work Abstract: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far. Keywords: Neurodegeneration, clinical picture, early symptoms, therapy, treatment

  18. Ethical considerations of genetic presymptomatic testing for Huntington's disease.

    Science.gov (United States)

    Coustasse, Alberto; Pekar, Alicia; Sikula, Andrew; Lurie, Sue

    2009-01-01

    The aim of this literature review was to determine if there is adequate ethical justification for presymptomatic genetic testing on potential Huntington's disease patients. Huntington's disease is a neurological genetic disorder characterized by midlife onset which consists of cognitive, physical, and emotional deterioration. Although genetic testing has traditionally been guided by the principle of autonomy, severe psychological consequences such as depression, anxiety, survival guilt, and suicide have complicated the ethical issue of providing a presymptomatic yet definitive diagnosis for an incurable disease. An analysis of available articles yielded inconclusive findings, namely due to insufficient evidence, self-selection bias of test participants, or lack of a longitudinal design. Additional results indicated psychological distress is not solely associated with test result, but rather with individual characteristics including, but not limited to, psychological history, test motivation, level of preparation, social support, and age. In the interest of upholding the principles of autonomy, beneficence, nonmaleficence, and justice, it is recommended that medical professionals follow strict protocol, provide extensive counseling, and employ vigilance when assessing at-risk individuals for HD presymptomatic test eligibility to ensure psychological well-being.

  19. Comprehensive care in Huntington's disease: a physician's perspective.

    Science.gov (United States)

    Nance, Martha A

    2007-04-30

    Huntington's disease is a slowly progressive neurodegenerative disorder with wide-ranging effects on affected individuals and their families. Until a cure is found for the disease, patients and their families will continue to need care over years, even generations. The ideal care for HD is provided by a team, led by a physician, with input from rehabilitation therapists, nurses, psychologists, genetic counselors, social workers, and other health care providers. The goals of care are to maximize the quality of life at all points through the course of the disease, in part by anticipating problems that are likely to arise at the next stage of the illness. We describe below an approach to comprehensive care, and introduce the concept of the "Huntington disease molecule", in which the patient, in the center, is surrounded by a shell of immediate and extended family members, with bonds extended in multiple directions to provider who can give appropriate medical care, education, crisis management, research opportunities, address family issues, maximize function, and prepare for the future.

  20. Deep brain stimulation in Huntington's disease: assessment of potential targets.

    Science.gov (United States)

    Sharma, Mayur; Deogaonkar, Milind

    2015-05-01

    Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder that has very few effective therapeutic interventions. Since the disease has a defined neural circuitry abnormality, neuromodulation could be an option. Case reports, original research, and animal model studies were selected from the databases of Medline and PubMed. All related studies published up to July 2014 were included in this review. The following search terms were used: "Deep brain stimulation," "DBS," "thalamotomy," "pallidal stimulation," and "Huntington's Disease," "HD," "chorea," or "hyperkinetic movement disorders." This review examines potential nodes in the HD circuitry that could be modulated using deep brain stimulation (DBS) therapy. With rapid evolution of imaging and ability to reach difficult targets in the brain with refined DBS technology, some phenotypes of HD could potentially be treated with DBS in the near future. Further clinical studies are warranted to validate the efficacy of neuromodulation and to determine the most optimal target for HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Functional impairment of precerebral arteries in Huntington disease.

    Science.gov (United States)

    Kobal, Jan; Cankar, Ksenija; Pretnar, Janja; Zaletel, Marjan; Kobal, Lucijan; Teran, Natasa; Melik, Ziva

    2017-01-15

    Cardiovascular pathology of Huntington disease (HD) appears to be complex; while microvascular dysfunction seems to appear early, deaths from cardiomyopathy and stroke might occur in the late phase of HD. Our study evaluated global risk factors for coronary heart disease (CHD), structure and function of precerebral arteries in 41 HD subjects and 41 matched controls. HD subjects were divided into groups by the United Huntington disease rating scale (presymptomatic-PHD, early-EHD, midstage-MHD and late-LHD). CHD risk factors assessment and Doppler examination of precerebral arteries were performed, including measurements of the carotid artery intima-media thickness (IMT), and parameters indicating local carotid artery distensibility (stiffness index β, pulse wave velocity, pressure strain elasticity module and carotid artery compliance). In the HD and controls we identified a comparable number of non-obstructive plaques (50% lumen narrowing) were found. There was significantly increased IMT in MHD. In PHD and EHD the parameters of arterial stiffness were significantly higher and the carotid artery compliance was significantly lower. Our results reveal functional vascular pathology in PHD, EHD, and MHD. Precerebral arteries dysfunction in HD therefore appears to be mostly functional and in agreement with recently described autonomic nervous system changes in HD. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Clinical and genetic data of Huntington disease in Moroccan patients.

    Science.gov (United States)

    Bouhouche, Ahmed; Regragui, Wafaa; Lamghari, Hind; Khaldi, Khadija; Birouk, Nazha; Lytim, Safaa; Bellamine, Soufiane; Kriouile, Yamna; Bouslam, Naima; Haddou, El Hachmia Ait Ben; Faris, Mustapha Alaoui; Benomar, Ali; Yahyaoui, Mohamed

    2015-12-01

    Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics. Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754). Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

  3. HARDNESS PHENOMENON IN BEACH PEA (Lethyrus maritimus L.

    Directory of Open Access Journals (Sweden)

    U.D. Chavan

    2013-04-01

    Full Text Available Beach pea is mostly grown on seashores and it contains higher amount of protein than other legumes. However, the pea has several undesirable  attributes, such as long cooking time and hard to germinate (imbibitions that limited its use as food. The present investigation aimed to study the physico-chemical properties, cooking characteristics and hull crude fibre structure of beach pea as compare to other similar legumes. Standard methods of processing pulses were used for present study. Beach pea seeds contained very low grain weight, density, hydration capacity,  hydration index, swelling capacity and swelling index than the green pea and field pea. Beach pea had higher amount of crude protein, ash, crude fibre and polyphenols, but lower in starch content than the green pea and field pea. Without any treatment to beach pea seeds the water uptake capacity was very low. Mechanical treatment to beach pea seeds increasedthe water uptake percentage. The recovery of hull was 3 to 6 times higher in beach pea than that of green pea and field pea. The crude protein  content in beach pea hull was 2-5% higher than others. The beach pea hull, dhal and whole seeds were good source of macro- and micro- minerals than that of the other two peas. The electron microscopic  structure of beach pea hull crude fibre showed a very close and compact structure than green pea and field pea hull crude fibre structure. Lowering the hardness of beach pea seeds with mechanical or chemical treatments will give more scope for their utilization in the human nutrition.

  4. Laminae and grain-size measures in beach sediments, east coast beaches, India

    Digital Repository Service at National Institute of Oceanography (India)

    Chauhan, O.S.

    in micro-layer structure of beach sediments at berm/backshore, foreshore and offshore regions. The sediments from the 0.5, 1.0, 1.5 and 2.0-cm layers as well as from the full core show effects of mixing of the individual micro-layers. The degree...

  5. Beach profiling studies at Yarada beach, Visakhapatnam, east coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Ganesan, P.; Raju, N.S.N.

    keeping the May 2009 profile as the base reference, over which the values of other seasons are compared and is presented in Table 9(iii). �A program to compute the volume of sand along beach Profiles� (Ganesan, P., 2006) was used for computation of volumes...

  6. 77 FR 13519 - Safety Zone; Virginia Beach Oceanfront Air Show, Atlantic Ocean, Virginia Beach, VA

    Science.gov (United States)

    2012-03-07

    ..., Atlantic Ocean, Virginia Beach, VA AGENCY: Coast Guard, DHS. ACTION: Notice of proposed rulemaking. SUMMARY: The Coast Guard proposes establishing a safety zone on the navigable waters of the Atlantic Ocean in..., which will then become highlighted in blue. In the ``Document Type'' drop down menu select...

  7. 75 FR 41926 - Noise Exposure Map Notice New Smyrna Beach Municipal Airport, New Smyrna Beach, FL

    Science.gov (United States)

    2010-07-19

    ... Federal Aviation Administration Noise Exposure Map Notice New Smyrna Beach Municipal Airport, New Smyrna... Administration (FAA) announces its determination that the Noise Exposure Maps submitted by the City of New Smyrna... Safety and Noise Abatement Act) and 14 CFR Part 150 are in compliance with applicable requirements....

  8. Holocene cemented beach deposits in Belize

    Science.gov (United States)

    Gischler, Eberhard; Lomando, Anthony J.

    1997-06-01

    Two types of cemented beach deposits occur on reef islands off the coast of Belize. These are (1) intertidal beachrock that is dominantly cemented by marine aragonite and high-magnesium-calcite cements, and (2) supratidal cayrock that is cemented mainly by vadose low-magnesium-calcite cements. Besides differences in position relative to present sea level and resulting early diagenesic features, beachrock and cayrock can be distinguished on the basis of differences in composition, texture, geographical position, and age. Whereas the composition of beachrock is similar to that of the adjacent marginal reef sediments, cayrock is enriched in benthic foraminifera. Intertidal beachrock is moderately to well sorted and well cemented, while supratidal cayrock is very well sorted, poorly cemented and friable. Beachrock occurs preferentially on windward beaches of sand-shingle Gays on the middle and southern barrier reefs and on the isolated platforms Glovers and Lighthouse Reefs. Cayrock only occurs on larger mangrove-sand Gays of the isolated platforms Turneffe Islands, Lighthouse Reef, and the northern barrier reef. 14C-dating of ten whole-rock and mollusk shell samples produced calibrated dates between AD 345 and AD 1435 for beachrock and between BC 1085 and AD 1190 for cayrock. The large-scale distribution of beachrock in Belize supports the contention that physical processes such as water agitation rather than biological processes control beachrock formation and distribution. Only on windward sides of cays that are close to the reef crest, where large amounts of seawater flush the beaches, considerable amounts of cements can be precipitated to produce beachrock. Cayrock forms due to cementation in the vadose zone and is only preserved on larger, stable mangrove-sand cays.

  9. Dinosaurs nesting on a red beach?

    Science.gov (United States)

    Sander, P. Martin; Peitz, Christian; Gallemi, Jaume; Cousin, Rémi

    1998-07-01

    The Upper Cretaceous Basturs locality (Tremp Basin, northern Spain) preserves numerous dinosaur eggs ( Megaloolithus cf. M. mammilare Vianey-Liaud, 1994). The locality was recently studied by Sanz et al. (1995) as well as by us. However, we have to disagree with several conclusions by Sanz et al. and suggest alternative interpretations incorporating data from other localities (Coll de Nargó). The dinosaurs at Basturs did not nest at the beach, nor is there evidence for colonial nesting and territorial behaviour. However, the locality superbly documents nesting site fidelity with an estimated occupation time of over 10 000 years.

  10. Bores and Swash on Natural Beaches.

    Science.gov (United States)

    1982-07-01

    MODERATE ENERGY -Im Punk ~ -- -- -- ... .. !60~~ 50 o f5 TsCS) --- -midsurf zone -----U - midsurf zone -U - swosh FIGURE 5 .2 burf zone and awash spectra from...pp 401-410. 2Bascom, N.., 1951, 8Th* relationship between sand size and beach face slope, Trans. Am. GOophys. Union, Vol 32 () pp 866-874. Bradshaw...dry bed*, ASCS. Jour. Hyd. Div., HY2, pp 187-216. 100 Friedman, G.F., 1967, nDynamic processes and statistical measures compared for size frequency

  11. Wave Reflection on a Two-Slope Steep Beach

    Science.gov (United States)

    2012-03-01

    surveys taken during cross-shore transport study experiment. .....................................12  Figure 7.  Sea kayak with echo sounder and...Suhayda, 1974) Natural beaches are composed of complicated slopes and encounter a wide spectrum of wave frequencies, amplitudes, and directions. Suhayda...1974) conducted a field experiment investigating standing waves on a natural beach. He expanded on the theoretical results of Lamb (1932

  12. Waihi Beach to the future: An objective review

    NARCIS (Netherlands)

    Brugmans, J.; Van Dijk, R.; Van der Lans, J.; Loeffen, R.; Wagner, J.

    2003-01-01

    Waihi Beach is a village consisting out of 2300 inhabitants, located in the Bay of Plenty on the North Island of New Zealand. It can be seen as a 9 km long tombolo beach. Dunes used to protect most of the land, but have decreased in size through natural erosive processes and through urban developmen

  13. A study on the reconstruction of Los Acantilados Beach, Argentina

    NARCIS (Netherlands)

    Algera, A.; Burger, B.; Hartog, W.M.; De Rijke, Q.C.

    2004-01-01

    The city of Mar del Plata is situated some 400 km South of Buenos Aires, the capital of Argentina. The city has two main incomes, namely industry and tourism. In summer, beaches of this Atlantic Ocean faced destination are packed with typical Argentine beach tents, which can be rented, and people fr

  14. Revisiting Hele-Shaw dynamics to better understand beach evolution

    NARCIS (Netherlands)

    Bokhove, Onno; van der Horn, Avraham/Bram; van der Horn, A.J.; van der Meer, Roger M.; Gagarina, Elena; Zweers, W.; Thornton, Anthony Richard

    2013-01-01

    Wave action, particularly during storms, drives the evo lution of beaches. Beach evolution by non-linear break ing waves is poorly understood due to its three-dimensional character, the range of scales involved, and our limited understanding of particle-wave interactions. We show how a novel, three-

  15. Waihi Beach to the future: An objective review

    NARCIS (Netherlands)

    Brugmans, J.; Van Dijk, R.; Van der Lans, J.; Loeffen, R.; Wagner, J.

    2003-01-01

    Waihi Beach is a village consisting out of 2300 inhabitants, located in the Bay of Plenty on the North Island of New Zealand. It can be seen as a 9 km long tombolo beach. Dunes used to protect most of the land, but have decreased in size through natural erosive processes and through urban

  16. Bodies that Matter: Performing White Possession on the Beach

    Science.gov (United States)

    Moreton-Robinson, Aileen

    2011-01-01

    Beaches remain important places within indigenous coastal peoples' territories, although the silence about our ownership is deafening. Many authors have argued that within Australian popular culture the beach is a key site where racialized and gendered transgressions, fantasies, and desires are played out, but none have elucidated how these…

  17. At Long Beach, Success Is Measured by Degrees

    Science.gov (United States)

    Fain, Paul

    2009-01-01

    The California State University campus at Long Beach graduated 8,720 students last month. Each one got the opportunity to walk the stage, and F. King Alexander, the university's president, shook every hand. California State at Long Beach has made graduating a greater number of its 38,000 students its top priority. The slogan "Graduation Begins…

  18. 33 CFR 110.74b - Apollo Beach, Fla.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Apollo Beach, Fla. 110.74b Section 110.74b Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Special Anchorage Areas § 110.74b Apollo Beach, Fla. Beginning at a...

  19. 1981 beached animal and plastic litter surveys report

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — A total of 119.63 km of beach were walked in 41 surveys (Appendix 1.). Birds and mammals were found on 16 of these surveys. There were 0.03 birds/km beach walked,...

  20. Observations of shoreline-sandbar coupling on an embayed beach

    NARCIS (Netherlands)

    van de Lageweg, W.I.; Bryan, K.R.; Coco, G.; Ruessink, B.G.

    2013-01-01

    We analyse a seven-year dataset (1999–2005) of shoreline and sandbar variations derived from video observations at the embayed Tairua Beach, New Zealand, to explore sandbar–shoreline coupling and to determine how this coupling is related to alongshore-averaged sandbar–shoreline separation and beach

  1. Geographic setting influences Great Lakes beach microbiological water quality

    Science.gov (United States)

    Haack, Sheridan K.; Fogarty, Lisa R.; Stelzer, Erin A.; Fuller, Lori M.; Brennan, Angela K.; Isaacs, Natasha M.; Johnson, Heather E.

    2013-01-01

    Understanding of factors that influence Escherichia coli (EC) and enterococci (ENT) concentrations, pathogen occurrence, and microbial sources at Great Lakes beaches comes largely from individual beach studies. Using 12 representative beaches, we tested enrichment cultures from 273 beach water and 22 tributary samples for EC, ENT, and genes indicating the bacterial pathogens Shiga-toxin producing E. coli (STEC), Shigella spp., Salmonella spp, Campylobacter jejuni/coli, and methicillin-resistant Staphylococcus aureus, and 108–145 samples for Bacteroides human, ruminant, and gull source-marker genes. EC/ENT temporal patterns, general Bacteroides concentration, and pathogen types and occurrence were regionally consistent (up to 40 km), but beach catchment variables (drains/creeks, impervious surface, urban land cover) influenced exceedances of EC/ENT standards and detections of Salmonella and STEC. Pathogen detections were more numerous when the EC/ENT Beach Action Value (but not when the Geometric Mean and Statistical Threshold Value) was exceeded. EC, ENT, and pathogens were not necessarily influenced by the same variables. Multiple Bacteroides sources, varying by date, occurred at every beach. Study of multiple beaches in different geographic settings provided new insights on the contrasting influences of regional and local variables, and a broader-scale perspective, on significance of EC/ENT exceedances, bacterial sources, and pathogen occurrence.

  2. Microfungi diversity isolation from sandy soil of Acapulco touristic beaches

    Science.gov (United States)

    Microscopic fungi diversity in marine sandy soil habitats is associated with key functions of beach ecosystems. There are few reports on their presence in Mexican beaches. Although standard methods to obtain the fungi from soil samples are established, the aim of this pilot study was to test the pla...

  3. Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-9A Thompson, PJ�and Thompson, TB, 1995, Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles,...

  4. Recent Trends in Detection of Huntingtin and Preclinical Models of Huntington's Disease.

    Science.gov (United States)

    Mantha, Neelima; Das, Nandita G; Das, Sudip K

    2014-01-01

    Huntington's disease is a genetically inherited neurodegenerative disease that is characterized by neuronal cell death in the brain. Molecular biology techniques to detect and quantify huntingtin protein in biological samples involve fluorescence imaging, western blotting, and PCR. Modified cell lines are widely used as models for Huntington's disease for preclinical screening of drugs to study their ability to suppress the expression of huntingtin. Although worm and fly species have been experimented on as models for Huntington's disease, the most successful animal models have been reported to be primates. This review critically analyses the molecular biology techniques for detection and quantitation of huntingtin and evaluates the various animal species for use as models for Huntington's disease.

  5. The Current Status of Neural Grafting in the Treatment of Huntington's Disease. A Review

    National Research Council Canada - National Science Library

    Wijeyekoon, Ruwani; Barker, Roger A

    2011-01-01

    Huntington's disease (HD) is a devastating, fatal, autosomal dominant condition in which the abnormal gene codes for a mutant form of huntingtin that causes widespread neuronal dysfunction and death...

  6. Hypothalamic Alterations in Huntington's Disease Patients : Comparison with Genetic Rodent Models

    NARCIS (Netherlands)

    Van Wamelen, D.J.; Aziz, N A; Roos, R A C; Swaab, D F

    2014-01-01

    Unintended weight loss, sleep and circadian disturbances and autonomic dysfunction are prevalent features of Huntington's disease (HD), an autosomal dominantly inherited neurodegenerative disorder caused by an expanded CAG repeat sequence in the HTT gene. These features form a substantial contributi

  7. 77 FR 51064 - Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application...

    Science.gov (United States)

    2012-08-23

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF LABOR Employment and Training Administration Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application for Reconsideration By application dated May 21, 2012, the State...

  8. The role of tau in the pathological process and clinical expression of Huntington's disease

    DEFF Research Database (Denmark)

    Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan

    2015-01-01

    -mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report...... not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some...... instances with mutant HTT. We confirmed this related to the disease process rather than age, by showing it is also present in two patients with young-onset Huntington's disease (26 and 40 years old at death). In addition we demonstrate that tau oligomers (suggested to be the most likely neurotoxic tau...

  9. Dynamics of the connectome in Huntington's disease : A longitudinal diffusion MRI study

    NARCIS (Netherlands)

    Odish, Omar F F; Caeyenberghs, Karen; Hosseini, Hadi; Van Den Bogaard, Simon J A; Roos, Raymund A C; Leemans, A

    2015-01-01

    Abstract Objectives To longitudinally investigate the connectome in different stages of Huntington's disease (HD) by applying graph theoretical analysis to diffusion MRI data. Experimental design We constructed weighted structural networks and calculated their topological properties. Twenty-two prem

  10. Evaluation of tetrathiomolybdate in the R6/2 model of Huntington disease.

    Science.gov (United States)

    Tallaksen-Greene, Sara J; Janiszewska, Anita; Benton, Kasha; Hou, Guoqing; Dick, Robert; Brewer, George J; Albin, Roger L

    2009-03-06

    Huntington disease is an uncommon autosomal dominant neurodegenerative disorder caused by expanded polyglutamine repeats in the huntingtin protein. The proximate mechanisms responsible for neurodegeneration are unknown. Copper ions may play a role in Huntington disease by promoting oligomerization of expanded polyglutamine repeat protein fragments. Ammonium tetrathiomolybdate is a copper complexing agent with demonstrated tolerability and efficacy in another neurodegenerative disorder, Wilson disease. We evaluated ammonium tetrathiomolybdate in the R6/2 transgenic mouse model of Huntington disease. Ammonium tetrathiomolybdate treatment delayed the onset of motor dysfunction in R6/2 mice. There was a trend towards reduced striatal degeneration, suggesting a neuroprotective effect of ammonium tetrathiomolybdate in this model. Given its known tolerability in humans with neurodegeneration, ammonium tetrathiomolybdate could be considered as a candidate for clinical trials in Huntington disease.

  11. Beach morphology and coastline evolution in the southern Bohai Strait

    Science.gov (United States)

    Zhang, Wei; Wu, Jianzheng; Li, Weiran; Zhu, Longhai; Hu, Rijun; Jiang, shenghui; Sun, Yonggen; Wang, Huijuan

    2015-10-01

    The beach studied in this paper spans a length of 51 km and is one of several long sandy beaches in the southern Bohai Strait. Due to the obstruction of islands in the northeast and the influence of the underwater topography, the wave environment in the offshore area is complex; beach types and sediment transport characteristics vary along different coasts. The coastlines extracted from six aerial photographs in different years were compared to demonstrate the evolving features. Seven typical beach profiles were selected to study the lateral beach variation characteristics. Continuous wind and wave observation data from Beihuangcheng ocean station during 2009 were employed for the hindcast of the local wave environment using a regional spectral wave model. Then the results of the wave hindcast were incorporated into the LITDRIFT model to compute the sediment transport rates and directions along the coasts and analyze the longshore sand movement. The results show that the coastline evolution of sand beaches in the southern Bohai Strait has spatial and temporal variations and the coast can be divided into four typical regions. Region (I), the north coast of Qimudao, is a slightly eroded and dissipative beach with a large sediment transport rate; Region (II), the southwest coast of Gangluan Port, is a slightly deposited and dissipative beach with moderate sediment transport rate; Region (III), in the central area, is a beach that is gradually transformed from a slightly eroded dissipative beach to a moderately or slightly strong eroded bar-trough beach from west to east with a relatively moderate sediment transport rate. Region (IV), on the east coast, is a strongly eroded and reflective beach with a weak sediment transport rate. The wave conditions exhibit an increasing trend from west to east in the offshore area. The distribution of the wave-induced current inside the wave breaking region and the littoral sediment transport in the nearshore region exhibit a gradual

  12. Evaluation of beach cleanup effects using linear system analysis.

    Science.gov (United States)

    Kataoka, Tomoya; Hinata, Hirofumi

    2015-02-15

    We established a method for evaluating beach cleanup effects (BCEs) based on a linear system analysis, and investigated factors determining BCEs. Here we focus on two BCEs: decreasing the total mass of toxic metals that could leach into a beach from marine plastics and preventing the fragmentation of marine plastics on the beach. Both BCEs depend strongly on the average residence time of marine plastics on the beach (τ(r)) and the period of temporal variability of the input flux of marine plastics (T). Cleanups on the beach where τ(r) is longer than T are more effective than those where τ(r) is shorter than T. In addition, both BCEs are the highest near the time when the remnants of plastics reach the local maximum (peak time). Therefore, it is crucial to understand the following three factors for effective cleanups: the average residence time, the plastic input period and the peak time.

  13. Deepwater Horizon oil spill impacts on Alabama beaches

    Directory of Open Access Journals (Sweden)

    J. S. Hayworth

    2011-12-01

    Full Text Available From mid June 2010 to early August 2010, the white sandy beaches along Alabama's Gulf coast were inundated with crude oil discharged from the Deepwater Horizon well. The long-term consequences of this environmental catastrophe are still unfolding. Although BP has attempted to clean up some of these beaches, there still exist many unanswered questions regarding the physical, chemical, and ecological state of the oil contaminated beach system. In this paper, we present our understanding of what is known and known to be unknown with regard to the current state of Alabama's beaches in the aftermath of the Deepwater Horizon disaster. Motivated by our observations of the evolving distribution of oil in Alabama's beaches and BP's clean-up activities, we offer our thoughts on the lessons learned from this oil spill disaster.

  14. Deepwater Horizon oil spill impacts on Alabama beaches

    Directory of Open Access Journals (Sweden)

    J. S. Hayworth

    2011-07-01

    Full Text Available From mid June 2010 to early August 2010, the white sandy beaches along Alabama's Gulf coast were inundated with crude oil discharged from the Deepwater Horizon well. The long-term consequences of this environmental catastrophe are still unfolding. Although BP has attempted to clean up some of these beaches, there still exist many unanswered questions regarding the physical, chemical, and ecological state of the oil contaminated beach system. In this paper, we present our understanding of what is known and known to be unknown with regard to the current state of Alabama's beaches in the aftermath of the Deepwater Horizon disaster. Motivated by our observations of the evolving distribution of oil in Alabama's beaches and BP's clean-up activities, we offer our thoughts on the lessons learned from this oil spill disaster.

  15. The role of tau in the pathological process and clinical expression of Huntington's disease.

    Science.gov (United States)

    Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan; Cisbani, Giulia; Drouin-Ouellet, Janelle; Spillantini, Maria G; Cicchetti, Francesca; Barker, Roger A

    2015-07-01

    Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated in Huntington's disease. We explored this association in more detail at the neuropathological, genetic and clinical level. We first investigated tau pathology by looking for the presence of hyperphosphorylated tau aggregates, co-localization of tau with mutant HTT and its oligomeric intermediates in post-mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some instances with mutant HTT. We confirmed this related to the disease process rather than age, by showing it is also present in two patients with young-onset Huntington's disease (26 and 40 years old at death). In addition we demonstrate that tau oligomers (suggested to be the most likely neurotoxic tau entity) are present in the Huntington's disease brains. Finally we highlight the clinical significance of this pathology by demonstrating that the MAPT haplotypes affect the rate

  16. Increased brain tissue sodium concentration in Huntington's Disease - a sodium imaging study at 4 T.

    Science.gov (United States)

    Reetz, Kathrin; Romanzetti, Sandro; Dogan, Imis; Saß, Christian; Werner, Cornelius J; Schiefer, Johannes; Schulz, Jörg B; Shah, N Jon

    2012-10-15

    The neuropathological hallmark of the autosomal dominantly inherited, neurodegenerative disorder Huntington's disease is progressive striatal loss starting several years prior to symptom manifestation. Magnetic resonance (MR) imaging has been widely used to detect altered structure in premanifest and early Huntington's disease. Given that neurodegeneration is likely preceded by substantial neuronal dysfunction, we used in vivo sodium MR imaging, which has been shown to be sensitive to cell death and viability, to investigate cellular and metabolic integrity of Huntington's disease brain tissue. We studied a total of thirteen healthy controls and thirteen Huntington's disease gene carriers (11 manifest and 2 premanifest). The manifest Huntington's disease group was subdivided into stages 1 and 2 according to their Total Functional Capacity scores. Clinical total motor and cognitive scores, as well as calibrated sodium and T1-weighted MR images were obtained with a 4 T Siemens MR scanner. Sodium images were acquired by means of a constant time imaging technique with an ultra-short "echo time". T1-weighted MR images were further analysed with voxel-based morphometry. The absolute total sodium concentration and grey matter values were measured in several Huntington's disease-specific and also non-specific areas. Statistical analysis of variance and Pearson correlation were applied. In Huntington's disease subjects, we found an increase of total sodium concentration of the entire brain compared to controls. Increased total sodium concentration values were found in structurally affected, but also in some non-affected, regions. The highest total sodium concentration values were found in the bilateral caudate, which was associated with caudate grey matter atrophy and CAG repeat length. In all Huntington's disease subjects we further found a profound increase of total sodium concentration in the putamen, pallidum, thalamus, hippocampus, insula, precuneus and occipital

  17. 76 FR 37641 - Safety Zone; Independence Day Fireworks Celebration for the City of Half Moon Bay, Half Moon Bay, CA

    Science.gov (United States)

    2011-06-28

    ... the City of Half Moon Bay, Half Moon Bay, CA AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY: The Coast Guard is establishing a temporary safety zone in the navigable waters of Half Moon Bay, off of Pillar Point Harbor beach, Half Moon Bay, CA in support of the Independence Day...

  18. [The life as a caregiver of a person affected by Chorea Huntington: multiple case study].

    Science.gov (United States)

    Winkler, Evi; Ausserhofer, Dietmar; Mantovan, Franco

    2012-10-01

    Chorea Huntington is an autosomal dominantly inherited, neurodegenerative brain disorder that leads to involuntary hyperkinesia, psychotic symptoms and dementia. The illness not only changes the life of the person itself but also the world of the caregivers. The challenges in the care of a person which is affected by Chorea Huntington have an effect on the daily living as an assemblage of natural and social conditions. a multiple case study was conducted. It included semi-structured interviews with three caregivers of people with Chorea Huntington in South Tyrol. The qualitative data was analyzed using the qualitative structured analysis of Mayring (2007). The objective of this study was to describe the phenomenon of change of life from family members that care people affected by Chorea Huntington in a specific cultural setting (South Tyrol, Italy). The caregivers reported that the diagnosis of Chorea Huntington leads to negative changes in "relationship and family". Particularly, frustration, aggression, impatience and apathy were perceived as stressful. At the same time they highlight the positive changes through home care. They report that the relationship became more intimate and integral and it was characterized by more cohesion. Family caregivers get valuable support from the home care service, however, they complain that there is no facility in South Tyrol, which is specialized to care people with Chorea Huntington. Therefore, the caregivers have to "give up a lot" and don't have any personal desires, dreams and expectations for the future. The caregivers have learned independently to deal with their changed life step by step, and to see also the positive effects of the caring role. The life of family caregivers of a person which is affected by Chorea Huntington is characterized by abandonment. A continuous and professional care would be important for the affected and his caregiver. A continuous and professional care is important for both, addressing the

  19. A double blind trial of sulpiride in Huntington's disease and tardive dyskinesia.

    OpenAIRE

    Quinn, N.; Marsden, C. D.

    1984-01-01

    Eleven patients with Huntington's disease and nine patients with tardive dyskinesia participated in a randomised double-blind crossover trial of sulpiride (as sole antidopaminergic therapy) versus placebo. Although functional improvement was not seen in Huntington's disease patients, sulpiride reduced movement count and total dyskinesia score in both conditions. Sulpiride differs pharmacologically in several respects from conventional neuroleptics, and has not been convincingly shown to cause...

  20. National Assessment of Hurricane-Induced Coastal Erosion Hazards: Gulf of Mexico Bradenton Beach to Clearwater Beach, Florida Raw (non-interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and...

  1. National Assessment of Hurricane-Induced Coastal Erosion Hazards: Gulf of Mexico Bradenton Beach to Clearwater Beach, Florida Mean (interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and...

  2. National Assessment of Hurricane-Induced Coastal Erosion Hazards: Gulf of Mexico Bradenton Beach to Clearwater Beach, Florida Raw (non-interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and predicting...

  3. 75 FR 14206 - FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Environmental Assessment...

    Science.gov (United States)

    2010-03-24

    ... From the Federal Register Online via the Government Publishing Office NUCLEAR REGULATORY COMMISSION [Docket Nos. 50-266 And 50-301; NRC-2010-0123 FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Environmental Assessment and Finding of No Significant Impact The U.S. Nuclear...

  4. 75 FR 16201 - FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Exemption

    Science.gov (United States)

    2010-03-31

    ... From the Federal Register Online via the Government Publishing Office ] NUCLEAR REGULATORY COMMISSION FPL Energy Point Beach, LLC; Point Beach Nuclear Plant, Units 1 and 2; Exemption 1.0 Background... letter from R. W. Borchardt (NRC) to M. S. Fertel (Nuclear Energy Institute) dated June 4, 2009. The...

  5. Beach monitoring project Sand Key Phase II Beach nourishment program (North Redington Beach and Redington Shores) Post-Nourishment Report Part II Offshore Profiles and Wave Data

    OpenAIRE

    1989-01-01

    This study presents the third post-nourishment survey (January 1989) results for the Sand Key Phase II beach nourishment project carried out in June, 1988. The monitoring program to this beach nourishment project is a joint effort between the University of South Florida and University of Florida. The field surveys include a total of 26 profiles, encompassing approximately 3 miles of shoreline extending from DNR R-96 to R-1ll. The total calculated volume loss of sand in the n...

  6. It wasn't Witchcraft--It was Huntington Disease!

    Science.gov (United States)

    Penaranda, Eribeth; Garcia, Angel; Montgomery, Lisa

    2011-01-01

    Huntington disease (HD) is an autosomal-dominant, incurable, progressive disorder that manifests with chorea and behavioral and cognitive impairment. The disease usually occurs during the fourth or fifth decade of life; however, it may present at any age. Clinical suspicion is confirmed by genetic testing. Death occurs, on average, 15 to 20 years after the onset of symptoms. Here we report about a Hispanic woman and her family who were affected by the disease; this case illustrates the role of cultural values and beliefs in the decision-making process, as well as the importance of the physician's cultural competency in fostering a trusting relationship that may lessen the burden of catastrophic diseases on individuals, families, and society at-large.

  7. Huntington's disease impairs recognition of angry and instrumental body language.

    Science.gov (United States)

    de Gelder, Beatrice; Van den Stock, Jan; Balaguer, Ruth de Diego; Bachoud-Lévi, Anne-Catherine

    2008-01-15

    Patients with Huntington's disease (HD) exhibit motor impairments as well as cognitive and emotional deficits. So far impairments in the ability to recognize emotional stimuli have mostly been investigated by using facial expressions and emotional voices. Other important emotional signals are provided by the whole body. To investigate the impact of motor deficits on body recognition and the relation between motor disorders and emotion perception deficits, we tested recognition of emotional body language (instrumental, angry, fearful and sad) in 19 HD patients and their matched controls with a nonverbal whole body expression matching task. Results indicate that HD patients are impaired in recognizing both instrumental and angry whole body postures. Furthermore, the body language perception deficits are correlated with measures of motor deficit. Taken together the results suggest a close relationship between emotion recognition (specifically anger) and motor abilities.

  8. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

    Arnulf, I.; Nielsen, J.; Lohmann, E.

    2008-01-01

    with very mild HD and worsened with disease severity. In contrast to narcoleptic patients, HD patients had no cataplexy, hypnagogic hallucinations, or sleep paralysis. Four HD patients had abnormally low (sleep latencies, but none had multiple sleep-onset REM periods. Conclusions......Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages...... interview, nighttime video and sleep monitoring, and daytime multiple sleep latency tests. Their results were compared with those of patients with narcolepsy and control patients. Results: The HD patients had frequent insomnia, earlier sleep onset, lower sleep efficiency, increased stage I sleep, delayed...

  9. Nucleic Acid-Based Therapy Approaches for Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Tatyana Vagner

    2012-01-01

    Full Text Available Huntington's disease (HD is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. These approaches include increasing expression of growth factors, decreasing levels of mutant huntingtin, and restoring cell metabolism and transcriptional balance. The aim of this paper is to outline the nucleic acid-based therapeutic strategies that have been tested to date.

  10. Unravelling and Exploiting Astrocyte Dysfunction in Huntington's Disease.

    Science.gov (United States)

    Khakh, Baljit S; Beaumont, Vahri; Cachope, Roger; Munoz-Sanjuan, Ignacio; Goldman, Steven A; Grantyn, Rosemarie

    2017-07-01

    Astrocytes are abundant within mature neural circuits and are involved in brain disorders. Here, we summarize our current understanding of astrocytes and Huntington's disease (HD), with a focus on correlative and causative dysfunctions of ion homeostasis, calcium signaling, and neurotransmitter clearance, as well as on the use of transplanted astrocytes to produce therapeutic benefit in mouse models of HD. Overall, the data suggest that astrocyte dysfunction is an important contributor to the onset and progression of some HD symptoms in mice. Additional exploration of astrocytes in HD mouse models and humans is needed and may provide new therapeutic opportunities to explore in conjunction with neuronal rescue and repair strategies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Genetic counseling and testing for Huntington's disease: A historical review.

    Science.gov (United States)

    Nance, Martha A

    2017-01-01

    This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care. © 2016 Wiley Periodicals, Inc.

  12. Modern Genome Editing Technologies in Huntington's Disease Research.

    Science.gov (United States)

    Malankhanova, Tuyana B; Malakhova, Anastasia A; Medvedev, Sergey P; Zakian, Suren M

    2017-01-01

    The development of new revolutionary technologies for directed gene editing has made it possible to thoroughly model and study NgAgo human diseases at the cellular and molecular levels. Gene editing tools like ZFN, TALEN, CRISPR-based systems, NgAgo and SGN can introduce different modifications. In gene sequences and regulate gene expression in different types of cells including induced pluripotent stem cells (iPSCs). These tools can be successfully used for Huntington's disease (HD) modeling, for example, to generate isogenic cell lines bearing different numbers of CAG repeats or to correct the mutation causing the disease. This review presents common genome editing technologies and summarizes the progress made in using them in HD and other hereditary diseases. Furthermore, we will discuss prospects and limitations of genome editing in understanding HD pathology.

  13. Striatal Vulnerability in Huntington's Disease: Neuroprotection Versus Neurotoxicity.

    Science.gov (United States)

    Morigaki, Ryoma; Goto, Satoshi

    2017-06-07

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat encoding an abnormally long polyglutamine tract (PolyQ) in the huntingtin (Htt) protein. In HD, striking neuropathological changes occur in the striatum, including loss of medium spiny neurons and parvalbumin-expressing interneurons accompanied by neurodegeneration of the striosome and matrix compartments, leading to progressive impairment of reasoning, walking and speaking abilities. The precise cause of striatal pathology in HD is still unknown; however, accumulating clinical and experimental evidence suggests multiple plausible pathophysiological mechanisms underlying striatal neurodegeneration in HD. Here, we review and discuss the characteristic neurodegenerative patterns observed in the striatum of HD patients and consider the role of various huntingtin-related and striatum-enriched proteins in neurotoxicity and neuroprotection.

  14. Genetic Mouse Models of Huntington's Disease: Focus on Electrophysiological Mechanisms

    Directory of Open Access Journals (Sweden)

    Carlos Cepeda

    2010-03-01

    Full Text Available The discovery of the HD (Huntington's disease gene in 1993 led to the creation of genetic mouse models of the disease and opened the doors for mechanistic studies. In particular, the early changes and progression of the disease could be followed and examined systematically. The present review focuses on the contribution of these genetic mouse models to the understanding of functional changes in neurons as the HD phenotype progresses, and concentrates on two brain areas: the striatum, the site of most conspicuous pathology in HD, and the cortex, a site that is becoming increasingly important in understanding the widespread behavioural abnormalities. Mounting evidence points to synaptic abnormalities in communication between the cortex and striatum and cell-cell interactions as major determinants of HD symptoms, even in the absence of severe neuronal degeneration and death.

  15. High resolution impedance manometric findings in dysphagia of Huntington's disease

    Institute of Scientific and Technical Information of China (English)

    Tae Hee Lee; Joon Seong Lee; Wan Jung Kim

    2012-01-01

    Conventional manometry presents significant challenges,espedally in assessment of pharyngeal swallowing,because of the asymmetry and deglutitive movements of oropharyngeal structures.It only provides information about intraluminal pressure and thus it is difficult to study functional details of esophageal motility disorders.New technology of solid high resolution impedance manometry (HRIM),with 32 pressure sensors and 6 impedance sensors,is likely to provide better assessment of pharyngeal swallowing as well as more information about esophageal motility disorders.However,the clinical usefulness of application of HRIM in patients with oropharyngeal dysphagia or esophageal dysphagia is not known.We experienced a case of Huntington's disease presenting with both oropharyngeal and esophageal dysphagia,in which HRIM revealed the mechanism of oropharyngeal dysphagia and provided comprehensive information about esophageal dysphagia.

  16. Observation of the Wigner-Huntington transition to metallic hydrogen

    Science.gov (United States)

    Dias, Ranga P.; Silvera, Isaac F.

    2017-02-01

    Producing metallic hydrogen has been a great challenge in condensed matter physics. Metallic hydrogen may be a room-temperature superconductor and metastable when the pressure is released and could have an important impact on energy and rocketry. We have studied solid molecular hydrogen under pressure at low temperatures. At a pressure of 495 gigapascals, hydrogen becomes metallic, with reflectivity as high as 0.91. We fit the reflectance using a Drude free-electron model to determine the plasma frequency of 32.5 ± 2.1 electron volts at a temperature of 5.5 kelvin, with a corresponding electron carrier density of 7.7 ± 1.1 × 1023 particles per cubic centimeter, which is consistent with theoretical estimates of the atomic density. The properties are those of an atomic metal. We have produced the Wigner-Huntington dissociative transition to atomic metallic hydrogen in the laboratory.

  17. Westphal variant Huntington disease and refractory catatonia: a case report.

    Science.gov (United States)

    Merida-Puga, Jorge; Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis Carlos; Fricchione, Gregory L; Espinola-Nadurille, Mariana

    2011-12-01

    A young woman with Westphal variant (juvenile) Huntington disease (HD) also developed catatonia. Catatonia is an underdiagnosed psychomotor syndrome often associated with neurological and psychiatric disorders, but it has rarely been documented in patients with HD. Catatonia usually responds to standard treatment with benzodiazepines and electroconvulsive therapy; however, this patient's catatonic syndrome did not improve until we augmented the standard treatment with amantadine and levodopa. The underlying pathophysiology and a neurochemical hypothesis of HD and catatonia can explain their comorbidity and the refractoriness of catatonia to treatment. Both conditions are linked to dysregulation of neurotransmitters in the striatocortical and corticocortical pathways. This understanding may serve as a guide for the use of nonstandard treatments. Our evidence also suggests that electroconvulsive therapy can be useful and safe in the treatment of HD.

  18. Autophagy in Huntington disease and huntingtin in autophagy.

    Science.gov (United States)

    Martin, Dale D O; Ladha, Safia; Ehrnhoefer, Dagmar E; Hayden, Michael R

    2015-01-01

    Autophagy is an important biological process that is essential for the removal of damaged organelles and toxic or aggregated proteins by delivering them to the lysosome for degradation. Consequently, autophagy has become a primary target for the treatment of neurodegenerative diseases that involve aggregating proteins. In Huntington disease (HD), an expansion of the polyglutamine (polyQ) tract in the N-terminus of the huntingtin (HTT) protein leads to protein aggregation. However, HD is unique among the neurodegenerative proteinopathies in that autophagy is not only dysfunctional but wild type (wt) HTT also appears to play several roles in regulating the dynamics of autophagy. Herein, we attempt to integrate the recently described novel roles of wtHTT and altered autophagy in HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Diagnóstico molecular de la enfermedad de Huntington en Costa Rica Molecular diagnosis of Huntington´s disease in Costa Rica

    OpenAIRE

    Melissa Vásquez-Cerdas; Fernando Morales-Montero; Húbert Fernández-Morales; Gerardo el Valle-Carazo; Jaime Fornaguera-Trías; Patricia Cuenca-Berger

    2008-01-01

    Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2008 Justificación y objetivo. Este estudio representa un esfuerzo para establecer por primera vez en Costa Rica el diagnóstico molecular de la enfermedad de Huntington; esto favorecerá un mejor manejo clínico de los pacientes y podrá ser traducido en un incremento de la calidad de vida de las familias. Se pretende determinar el número de repeticiones CAG en personas con la enfermedad de Huntington y f...

  20. Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

    Science.gov (United States)

    Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard

    2012-01-01

    Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.

  1. Orphan drugs in development for Huntington's disease: challenges and progress

    Directory of Open Access Journals (Sweden)

    Burgunder JM

    2015-02-01

    advanced strategies to develop novel treatments in Huntington's disease are examined. Keywords: Huntington's disease, symptomatic treatment, disease-modifying therapy

  2. Environmental contaminants in the food chain, NWS Seal Beach and Seal Beach NWR

    Energy Technology Data Exchange (ETDEWEB)

    Ohlendorf, H.M.; Byron, E.R. [CH2M Hill, Sacramento, CA (United States); Freas, K.E. [CH2M Hill, San Jose, CA (United States); Casados, E.M.; Kidwell, J.J. [Naval Facilities Engineering Command, San Diego, CA (United States). SW Division

    1994-12-31

    The authors conducted a study to determine whether environmental contaminants occurred in fish and invertebrates at concentrations that could be harmful to birds feeding in the estuarine salt marsh at Seal Beach National Wildlife Refuge (NWR), which is part of Naval Weapons Station (NWS) Seal Beach. Management of the refuge is focused primarily on endangered species, especially the light-footed clapper rail and the California least tern. Important food-chain organisms taken by rails (e.g., crabs and snails) and least terns (small fish) were sampled and analyzed for inorganic and organic contaminants that might be related to Navy activities at the Station. Results indicated that those contaminants are not likely to have lethal effects on rails or terns, although some chemicals (including cadmium, chromium, copper, lead, zinc and DDE) occurred at elevated concentrations in portions of the marsh. Possible sublethal effects also were evaluated and will be discussed.

  3. 33 CFR 110.214 - Los Angeles and Long Beach harbors, California.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Los Angeles and Long Beach... HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Anchorage Grounds § 110.214 Los Angeles and Long Beach... the Captain of the Port Los Angeles-Long Beach, the pilot stations for the Port of Long Beach and...

  4. 78 FR 25383 - Amendment of Class E Airspace; West Palm Beach, FL

    Science.gov (United States)

    2013-05-01

    ... Beach County Park Airport, West Palm Beach, FL (78 FR 6258). Interested parties were invited to... Federal Aviation Administration 14 CFR Part 71 Amendment of Class E Airspace; West Palm Beach, FL AGENCY... Airspace in the West Palm Beach, FL area, as new Standard Instrument Approach Procedures (SIAPs) have...

  5. Governance in a beach seine fishery : a case study from Lake Victoria, Tanzania

    NARCIS (Netherlands)

    Medard, M.; Dijk, van J.W.M.; Hebinck, P.; Geheb, K.

    2016-01-01

    Beach seine gear is one of the prominent fishing gears in Nile Perch fishery. Before Nile Perch was introduced to the lake, beach seines the species targeted with beach seine were Tilapia, Bagrus, Haplochromis, Protopterus and Labeo. In 1994, beach seines were banned in Tanzania and by 2004, this

  6. Brazilian sandy beaches: characteristics, ecosystem services, impacts, knowledge and priorities

    Directory of Open Access Journals (Sweden)

    Antonia Cecília Zacagnini Amaral

    Full Text Available ABSTRACT Sandy beaches constitute a key ecosystem and provide socioeconomic goods and services, thereby playing an important role in the maintenance of human populations and in biodiversity conservation. Despite the ecological and social importance of these ecosytems, Brazilian sandy beaches are significantly impacted by human interference, chemical and organic pollution and tourism, as well as global climate change. These factors drive the need to better understand the environmental change and its consequences for biota. To promote the implementation of integrated studies to detect the effects of regional and global environmental change on beaches and on other benthic habitats of the Brazilian coast, Brazilian marine researchers have established The Coastal Benthic Habitats Monitoring Network (ReBentos. In order to provide input for sample planning by ReBentos, we have conducted an intensive review of the studies conducted on Brazilian beaches and summarized the current knowledge about this environment. In this paper, we present the results of this review and describe the physical, biological and socioeconomics features of Brazilian beaches. We have used these results, our personal experience and worldwide literature to identify research projects that should be prioritized in the assessment of regional and global change on Brazilian sandy beaches. We trust that this paper will provide insights for future studies and represent a significant step towards the conservation of Brazilian beaches and their biodiversity.

  7. Wave-Induced Groundwater Flows in a Freshwater Beach Aquifer

    Science.gov (United States)

    Malott, S. S.; Robinson, C. E.; O'Carroll, D. M.

    2014-12-01

    Wave-induced recirculation across the sediment-water interface can impact the transport of pollutants through a beach aquifer and their ultimate flux into coastal waters. The fate of nutrients (e.g. from septic and agricultural sources) and fecal indicator bacteria (e.g. E. coil) near the sediment-water interface are of particular concern as these pollutants often lead to degradation of recreational water quality and nearshore ecosystems. This paper presents detailed field measurements of groundwater flows in a freshwater beach aquifer on Lake Huron over periods of intensified wave conditions. Quantifying wave-driven processes in a freshwater beach aquifer enables wave effects to be studied in isolation from density and tidal effects that complicate groundwater flows in marine beaches. Water exchange across the sediment-water interface and groundwater flow patterns were measured using groundwater wells, arrays of vertically nested pressure transducers and manometers. Results show that wave action induces rapid infiltration/exfiltration across the sediment-water interface and a larger recirculation cell through the beach aquifer. Field data is used to validate a numerical groundwater model of wave-induced groundwater flows. While prior studies have simulated the effects of waves on beach groundwater flows, this study is the first attempt to validate these sophisticated modeling approaches. Finally, field data illustrating the impact of wave-induced groundwater flows on nutrient and bacteria fate and transport in beach aquifers will also be presented.

  8. Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

    Science.gov (United States)

    Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

    2012-04-01

    Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena

  9. New methodology for describing the equilibrium beach profile applied to the Valencia's beaches

    Science.gov (United States)

    Aragonés, L.; Serra, J. C.; Villacampa, Y.; Saval, J. M.; Tinoco, H.

    2016-04-01

    Mathematical models used for the understanding of coastal seabed morphology play a key role in beach nourishment projects. These projects have become the fundamental strategy for coastal maintenance during the last few years. Accordingly, the accuracy of these models is vital to optimize the costs of coastal regeneration projects. Planning of such interventions requires methodologies that do not generate uncertainties in their interpretation. A study and comparison of mathematical simulation models of the coastline is carried out in this paper, as well as elements that are part of the model that are a source of uncertainty. The equilibrium profile (EP) and the offshore limit corresponding to the depth of closure (DoC) have been analyzed taking into account different timescale ranges. The results have thus been compared using data sets from three different periods which are identified as present, past and future. Accuracy in data collection for the beach profiles and the definition of the median grain size calculation using collected samples are the two main factors that have been taken into account in this paper. These data can generate high uncertainties and can produce a lack of accuracy in nourishment projects. Together they can generate excessive costs due to possible excess or shortage of sand used for the nourishment. The main goal of this paper is the development of a new methodology to increase the accuracy of the existing equilibrium beach profile models, providing an improvement to the inputs used in such models and in the fitting of the formulae used to obtain seabed shape. This new methodology has been applied and tested on Valencia's beaches.

  10. Nourishment practices on Australian sandy beaches: a review.

    Science.gov (United States)

    Cooke, Belinda C; Jones, Alan R; Goodwin, Ian D; Bishop, Melanie J

    2012-12-30

    It is predicted that the coastal zone will be among the environments worst affected by projected climate change. Projected losses in beach area will negatively impact on coastal infrastructure and continued recreational use of beaches. Beach nourishment practices such as artificial nourishment, replenishment and scraping are increasingly used to combat beach erosion but the extent and scale of projects is poorly documented in large areas of the world. Through a survey of beach managers of Local Government Areas and a comprehensive search of peer reviewed and grey literature, we assessed the extent of nourishment practices in Australia. The study identified 130 beaches in Australia that were subject to nourishment practices between 2001 and 2011. Compared to projects elsewhere, most Australian projects were small in scale but frequent. Exceptions were nine bypass projects which utilised large volumes of sediment. Most artificial nourishment, replenishment and beach scraping occurred in highly urbanised areas and were most frequently initiated in spring during periods favourable to accretion and outside of the summer season of peak beach use. Projects were generally a response to extreme weather events, and utilised sand from the same coastal compartment as the site of erosion. Management was planned on a regional scale by Local Government Authorities, with little monitoring of efficacy or biological impact. As rising sea levels and growing coastal populations continue to put pressure on beaches a more integrated approach to management is required, that documents the extent of projects in a central repository, and mandates physical and biological monitoring to help ensure the engineering is sustainable and effective at meeting goals.

  11. Solid Waste Transportation through Ocean Currents: Marine Debris Sightings and their Waste Quantification at Port Dickson Beaches, Peninsular Malaysia

    OpenAIRE

    Chong Jing Yi; Narayanan Kannan

    2016-01-01

    Four beaches at Port Dickson, Peninsular Malaysia, namely Saujana Beach, Nelayan Beach, Bagan Pinang Beach and Cermin beach have been sampled for marine debris from 7th June 2014 until 26th July 2014, on every Saturday. These beaches face the Strait of Malacca with a coastline stretching 18 km each. Our observations revealed a total debris items of 13193 in those beaches. The top three items of highest frequency were cigarette butts, foamed fragments and food wrappers. Plastic debris scaled h...

  12. Hope in Huntington's disease A survey in counseling patients with Huntington's disease,as well as the caregivers

    Institute of Scientific and Technical Information of China (English)

    Jerzy T Marcinkowski; Daniel Zielonka

    2009-01-01

    BACKGROUND: It is difficult to attract interest in non-compulsory, preventive, medical care, and persons diagnosed with certain diseases often ignore the existence of these diseases. However, Huntington's disease (HD) is an exception. OBJECTIVE: To qualitatively analyze factors motivating HD patients to participate in a study, namely the European Huntington's Disease Network (EHDN) REGISTRY. DESIGN, TIME AND SETTING: An observational survey was conducted in the EHDN Study Site in Pozna(n), Poland between 2007 and 2008.PARTICIPANTS: The study involved 22 persons affected with HD and 3 pre-symptomatic individuals, totaling 9 males and 16 females. The 24 participants in this study had 24 different caregivers. A total of 25 symptomatic or pre-symptomatic subjects participated in the initial REGISTRY visit, as well as 6 in the second, and 1 in the third. All subjects did not know each other prior to the visit. METHODS: A mutation in the IT15 gene was confirmed in each patient or pre-symptomatic mutation carrier. An in-depth interview produced detailed information on the HD patients, as well as the caregivers, for the REGISTRY study. MAIN OUTCOME MEASURES: A qualitative analysis of the factors motivating HD patients and the pre-symptomatic mutation carriers to participate in the REGISTRY longitudinal, observational, research project was performed. RESULTS: The primary motivating factor for involvement of HD patients and the caregivers in the REGISTRY study was the hope that an effective HD therapy would soon be discovered. In HD patients and the pre-symptomatic group, the response to participate in the REGISTRY project reached 100%, despite the fact that they knew the project was only an observational study. CONCLUSION: Patient hope is thought to be a factor for engaging in preventive, therapeutic activities. However, this is rarely mentioned in medical papers and clinical textbooks, and is usually overlooked in medical teaching. Clearly, efforts should be made to

  13. A holistic evaluation of a typical beach nourishment

    DEFF Research Database (Denmark)

    Margheritini, Lucia; Frigaard, Peter; Wahl, Niels Arne

    2007-01-01

    and more attention is being paid to the recreational values of the beaches, i.e. tourism so that an additional purpose of Beach Nourishment is to increase the recreational space along the shore. Families using the beaches prefer small grain sizes and gentle slopes. Seen from a coastal protection point...... of view it is on the other hand wiser to use coarser materials, and place these materials as close to the dunes as possible. Such a procedure will ultimately lead to the generation of somewhat steep, unattractive and sometimes dangerous local sandy cliffs. The aim of the present paper is to give...

  14. Cadmium, lead and bromine in beached microplastics.

    Science.gov (United States)

    Massos, Angelo; Turner, Andrew

    2017-08-01

    Samples of microplastic (n = 924) from two beaches in south west England have been analysed by field-portable-x-ray fluorescence (FP-XRF) spectrometry, configured in a low-density mode and with a small-spot facility, for the heavy metals, Cd and Pb, and the halogen, Br. Primary plastics in the form of pre-production pellets were the principal type of microplastic (>70%) on both beaches, with secondary, irregularly-shaped fragments representing the remainder of samples. Cadmium and Pb were detected in 6.9% and 7.5% of all microplastics, respectively, with concentrations of either metal that exceeded 10(3) μg g(-1) usually encountered in red and yellow pellets or fragments. Respective correlations of Cd and Pb with Se and Cr were attributed to the presence of the coloured, inorganic pigments, cadmium sulphoselenide and lead chromate. Bromine, detected in 10.4% of microplastics and up to concentrations of about 13,000 μg g(-1), was mainly encountered in neutrally-coloured pellets. Its strong correlation with Sb, whose oxides are effective fire suppressant synergists, suggests the presence of a variety of brominated flame retardants arising from the recycling of plastics originally used in casings for heat-generating electrical equipment. The maximum bioaccessible concentrations of Cd and Pb, evaluated using a physiological extraction based on the chemical characteristics of the proventriculus-gizzard of the northern fulmar, were about 50 μg g(-1) and 8 μg g(-1), respectively. These concentrations exceed those estimated for the diet of local seabirds by factors of about 50 and 4, respectively. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Renewable Energy Development in Hermosa Beach, California

    Science.gov (United States)

    Morris, K.

    2016-12-01

    The City of Hermosa Beach, California, with the support of the AGU's TEX program, is exploring the potential for renewable energy generation inside the City, as part of the implementation of the City's 2015 Municipal Carbon Neutral Plan. Task 1: Estimate the technical potential of existing and future technologies Given the City's characteristics, this task will identify feasible technologies: wind, solar, tidal/wave, wastewater biogas, landfill biogas, microscale anaerobic digestion (AD), and complementary energy storage. Some options may be open to the City acting alone, but others will require working with municipal partners and private entities that provide services to Hermosa Beach (e.g., wastewater treatment). Energy storage is a means to integrate intermittent renewable energy output. Task 2: Review transaction types and pathways In this task, feasible technologies will be further examined in terms of municipal ordinances and contractual paths: (a) power purchase agreements (PPAs) with developers, under which the City would purchase energy or storage services directly; (b) leases with developers, under which the City would rent sites (e.g., municipal rooftops) to developers; (c) ordinances related to permitting, under which the City would reduce regulatory barriers to entry for developers; (d) pilot projects, under which the City would engage with developers to test new technologies such as wind/wave/microscale AD (pursuant to PPAs and/or leases); and (e) existing projects, under which the City would work with current wastewater and landfill contractors to understand (i) current plans to develop renewable energy, and (ii) opportunities for the City to work with such contractors to promote renewable energy. Task 3: Estimate costs by technology Finally, the last task will gather existing information about the costs, both current and projected, of the feasible technologies, including (i) overnight construction cost (capital); (ii) integration costs (e

  16. Morphological changes, beach inundation and overwash caused by an extreme storm on a low-lying embayed beach bounded by a dune system (NW Mediterranean)

    Science.gov (United States)

    Durán, Ruth; Guillén, Jorge; Ruiz, Antonio; Jiménez, José A.; Sagristà, Enric

    2016-12-01

    The geomorphological evolution of a low-lying, micro-tidal sandy beach in the western Mediterranean, Pals beach, was characterized using airborne Light Detection and Ranging (LiDAR) data. Data were collected in prior to and six months after the impact of an extreme storm with a return period of approx. 50 years, with the aim of characterizing the beach's response to the storm. The use of repeated high-resolution topographic data to quantify beach geomorphic changes has allowed assessment of the accuracy of different proxies for estimating beach volume changes. Results revealed that changes in the shoreline position cannot accurately reproduce beach volume changes on low-lying beaches where overwash processes are significant. Observations also suggested that volume estimations from beach profiles do not accurately represent subaerial volume changes at large profile distances on beaches with significant alongshore geomorphological variability. Accordingly, the segmentation of the beach into regularly spaced bins is proposed to assess alongshore variations in the beach volume with the accuracy of the topographic data. The morphological evolution of Pals beach during the study period showed a net shoreline retreat (- 4 m) and a significant sediment gain on the subaerial beach (+ 7.5 m3/m). The net gain of sediment is mostly due to the impact of the extreme storm, driving significant overwash processes that transport sediment landwards, increasing volume on the backshore and dunes. The increase of volume on the foreshore and the presence of cuspate morphologies along the shoreline also evidence post-storm beach recovery. Observed morphological changes exhibit a high variability along the beach related to variations in beach morphology. Changes in the morphology and migration of megacusps result in a high variability in the shoreline position and foreshore volume changes. On the other hand, larger morphological changes on the backshore and larger inundation distances

  17. Brazilian sandy beach macrofauna production: a review

    Directory of Open Access Journals (Sweden)

    Marcelo Petracco

    2012-12-01

    Full Text Available The state of the art of the studies on the production of Brazilian sandy beach macrofauna was analyzed on the basis of the data available in the literature. For this purpose, the representativeness of the production dataset was examined by latitudinal distribution, degree of exposure and morphodynamic state of beaches, taxonomic groups, and methods employed. A descriptive analysis was, further, made to investigate the trends in production of the more representative taxonomic groups and species of sandy beach macrofauna. A total of 69 macrofauna annual production estimates were obtained for 38 populations from 25 studies carried out between 22º56'S and 32º20'S. Production estimates were restricted to populations on beaches located on the southern and southeastern Brazilian coast. Most of the populations in the dataset inhabit exposed dissipative sandy beaches and are mainly represented by mollusks and crustaceans, with a smaller number of polychaetes. The trends in production among taxonomic groups follow a similar pattern to that observed on beaches throughout the world, with high values for bivalves and decapods. The high turnover rate (P/B ratio of the latter was due to the presence of several populations of the mole crab Emerita brasiliensis, which can attain high values of productivity, in the dataset. Most of the studies focus on the comparison of production and, especially, of P/B ratio according to life history traits in populations of the same species/taxonomic group. Despite the importance of life history-production studies, other approaches, such as the effect of man-induce disturbances on the macrofauna, should be undertaken in these threatened environments.O estado da arte dos estudos de produção da macrofauna de praias arenosas brasileiras foi analisado a partir de informações disponíveis na literatura. Para essa finalidade, a representatividade dos dados de produção foi examinada de acordo com a distribuição latitudinal

  18. Effects of Rainfall on E. coli Concentrations at Door County, Wisconsin Beaches

    OpenAIRE

    Gregory T. Kleinheinz; McDermott, Colleen M.; Sarah Hughes; Amanda Brown

    2009-01-01

    Rainfall and its associated storm water runoff have been associated with transport of many pollutants into beach water. Fecal material, from a variety of animals (humans, pets, livestock, and wildlife), can wash into beach water following rainfall and result in microbial contamination of the beach. Many locales around the world issue pre-emptive beach closures associated with rainfall. This study looked at eight beaches located in Door County, Wisconsin, on Lake Michigan to determine the impa...

  19. Wave-dominated, mesotidal headland-bay beach morphody-namic classsfications of the Shuidong Bay in South China

    Institute of Scientific and Technical Information of China (English)

    YU Jitao; DING Yuanting; CHENG Huangxin; CAI Lailiang; CHEN Zishen

    2016-01-01

    Beach morphodynamic classifications have achieved extensive acceptance in foreign coastal geomorphological studies. Three beaches located in different zones of a headland-bay coast are classified according to a dimensionless fall parameter, a relative tide range parameter and a dimensionless embayment scaling parameter. Synchronous data, including wave, tide, sediment and beach morphology, are respectively collected from the tangential beach, the transitional beach and the shadow beach of the Shuidong Bay during each spring tide for 16 successive months. The research results indicate that (1) the beach in the tangential zone falls between two major categories which are low tide terrace beaches with rips and barred beaches; the beach in the transitional zone exhibits two main types which are low tide bar/rip beaches and barred dissipative beaches; and the beach in the shadow zone mainly mirrors dissipative states with presence or absence of bars; and (2) the sequential changes and differences of beach states in different coastal zones reflect spatial and temporal variabilities of the headland-bay coast, totally meeting the actual measured beach morphology changes, showing that studies on wave-dominated, meso-macrotidal beaches need to consider the influences of the tides. Meanwhile, the research mainly provides a framework about beach state studies, due to different beach states with different erosion patterns, which requires the need to strengthen the researches in this respect, in order to further enrich theoretical basis for a beach topography evolution, beach morphodynamic processes and beach erosion prevention in China.

  20. Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations.

    Science.gov (United States)

    Mestre, Tiago A; van Duijn, Erik; Davis, Aileen M; Bachoud-Lévi, Anne-Catherine; Busse, Monica; Anderson, Karen E; Ferreira, Joaquim J; Mahlknecht, Philipp; Tumas, Vitor; Sampaio, Cristina; Goetz, Chris G; Cubo, Esther; Stebbins, Glenn T; Martinez-Martin, Pablo

    2016-10-01

    Behavioral symptoms are an important feature of Huntington's disease and contribute to impairment in quality of life. The Movement Disorder Society commissioned the assessment of the clinimetric properties of rating scales in Huntington's disease to make recommendations regarding their use, following previously used standardized criteria. A systematic literature search was conducted to identify the scales used to assess behavioral symptoms in Huntington's disease. For the purpose of this review, 7 behavioral domains were deemed significant in Huntington's disease: irritability, anxiety, depression, apathy, obsessive-compulsive behaviors, psychosis, and suicidal ideation. We included a total of 27 behavioral rating scales, 19 of which were of a single behavioral domain and the remaining 8 scales included multiple behavioral domains. Three rating scales were classified as "recommended" exclusively for screening purposes: the Irritability Scale for irritability, the Beck Depression Inventory-II, and the Hospital Anxiety and Depression Scale for depression. There were no "recommended" scales for other purposes such as diagnosis, severity, or change in time or to treatment. The main challenges identified for assessment of behavioral symptoms in Huntington's disease are the co-occurrence of multiple behavioral symptoms, the particular features of a behavioral symptom in Huntington's disease, and the need to address stage- and disease-specific features, including cognitive impairment and lack of insight. The committee concluded that there is a need to further validate currently available behavioral rating scales in Huntington's disease to address gaps in scale validation for specific behavioral domains and purpose of use. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  1. A study of the CCG polymorphism in the IT15 cDNA in the Scottish Huntington`s disease and normal populations

    Energy Technology Data Exchange (ETDEWEB)

    Barron, L.H.; Rae, A.; Brock, D.J.H. [Univ. of Edinburgh (United Kingdom)] [and others

    1994-09-01

    The CCG rich sequence immediately 3{prime} to the CAG repeat that is expanded in Huntington`s disease (HD) has recently been shown to be polymorphic with at least 5 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 200 Scottish HD families and have found very strong evidence for almost complete disequilibrium in this population. For all the families phase was unambiguously determined and 196 were shown to have a CCG repeat allele of 176 bp cosegregating with the HD chromosome. This observation is significantly different to the normal population distribution where 31% of people have an allele of 185 bp. This overrepresentation of the 176 bp allele is also seen in the normal population on chromosomes with greater than 26 CAG repeats. The DNA sequence across the CAG and CCG repeats has been obtained for the four HD patients that do not have a 176 bp CCG repeat size and will be presented. We present strong evidence of genetic heterogeneity in the Scottish HD population making it very unlikely that there is a founder effect in the Scottish HD population. These data suggest that we may have identified a region of the IT15 gene that is critical in the mechanism of Huntington`s disease CAG expansion.

  2. Palm Beach, Florida Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Palm Beach, Florida Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  3. Plastic pellets on the Caranzalem beach sands, Goa, India

    Digital Repository Service at National Institute of Oceanography (India)

    Nigam, R.

    Postmonsoonal survey of Caranzalem beach, Goa, India indicated the presence of plastic pellets. These pellets varied in shape, size and number, and are considered to be contaminants of marine environment...

  4. The Trail Inventory of Seal Beach NWR [Cycle 2

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The purpose of this report is to create a baseline inventory of all non-motorized trails on Seal Beach National Wildlife Refuge. Trails in this inventory are...

  5. Source identification of a tar residue from Mumbai Beach

    Digital Repository Service at National Institute of Oceanography (India)

    Kadam, A; Rokade, M.A

    A tar residue from Mumbai Beach, Maharashtra, India was matched with the suspected source sample from a tanker using UV, IR and GLC techniques. Negligible differences in several ratios of UV absorbances and ratios of infrared transmittances...

  6. Pollution of some recreation beaches of Mumbai, Maharashtra

    Digital Repository Service at National Institute of Oceanography (India)

    Ingole, S.A.; Kadam, A.N.

    of Mumbai (Figure 1). It was therefore feared that they might have polluted the recreation beaches causing deleterious effects to the human health. Some such effects are known to be skin irritations, gastrointestinal diseases, transmission of typhoid...

  7. Geology and geomorphology--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is included in...

  8. Massachusetts raw (non-interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and predicting...

  9. Seal Beach National Wildlife Refuge: Final Comprehensive Conservation Plan

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This Comprehensive Conservation Plan (CCP) was written to guide management on Seal Beach NWR for the next 15 years. This plan outlines the Refuge vision and purpose...

  10. Geology and geomorphology--Offshore Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents the geologic and geomorphic map (see sheets 10, SIM 3319) of Offshore Refugio Beach, California. The vector data file is included in...

  11. Wave refraction and littoral currents off Colva Beach, Goa

    Digital Repository Service at National Institute of Oceanography (India)

    Veerayya, M.; Murty, C.S.; Varadachari, V.V.R.

    Wave refraction studies have been carried out for waves of different periods approaching the coast at Colva, with directions of approach lying between180 degrees and 340 degrees, to obtain a qualitative picture of littoral flows along the beach...

  12. Type and Quantity of Shipborne Garbage at Selected Tropical Beaches

    Directory of Open Access Journals (Sweden)

    Julyus-Melvin Mobilik

    2016-01-01

    Full Text Available Marine debris is widely distributed at the coastal area of the global oceans; however, shipborne garbage source studies are still lacking to document the pollution in Malaysia Territorial Water. Thus, this study has adopted a standard method of beach marine debris survey at five beaches and inspected 115 vessels to assess the type and amount of debris from shipping source stranded on the beach. This study found that vessel visiting Malaysian ports observed the MARPOL 73/78 Annex V requirements; however, identified objects from shipping activity (1.3%; 2 items/km found on the beaches indicate that there are vessels disposing of garbage illegally at sea. Therefore, there is a need to promote the use of biodegradable material and introduce environmental education to increase awareness on the vessel.

  13. Virginia Beach Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Virginia Beach, Virginia Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST)...

  14. A holistic evaluation of a typical beach nourishment

    DEFF Research Database (Denmark)

    Margheritini, Lucia; Frigaard, Peter; Wahl, Niels Arne

    2007-01-01

    is the primary method used by the Danish Coastal Authority for coastal protection and represents a management tool which serves a dual purpose. Beach Nourishment is protecting coastal lands as well as backshore properties (infrastructures, buildings etc.) and preserving natural heritages. Nevertheless, more......The coastal landscape in Denmark is characterized by multiple areas of geologic, biologic and recreational interests both at a national and international level. In the later years several guidelines have been set up in the coastal protection area. Recognizing the value of the healthy natural...... environment, the aims for the future are to ensure the presence of naturally shaped beaches and at the same time to reduce the risk of erosion. For this reason beach nourishment is used widely along the Danish North Sea coast and this method is preferred to solid constructions. Beach Nourishment...

  15. Study of longshore current equations for currents in Visakhapatnam beach

    Digital Repository Service at National Institute of Oceanography (India)

    Chandramohan, P.; Rao, T.V.N.

    Longshore currents were measured along the Visakhapatnam Beach, Andhra Pradesh, India at weekly intervals from March 1978 to March 1979. Visual observations on breaker characteristics were also made during this period. Using modified Longuet...

  16. Backscatter--Offshore of Refugio Beach Area, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents data for part of the acoustic-backscatter map (see sheet 3, SIM 3319) of Offshore Refugio Beach map area, California. The raster data...

  17. Modes of embayed beach dynamics: analysis reveals emergent timescales

    Science.gov (United States)

    Murray, K. T.; Murray, A.; Limber, P. W.; Ells, K. D.

    2013-12-01

    Embayed beaches, or beaches positioned between rocky headlands, exhibit morphologic changes over many length and time scales. Beach sediment is transported as a result of the day-to-day wave forcing, causing patterns of erosion and accretion. We use the Rocky Coastline Evolution Model (RCEM) to investigate how patterns of shoreline change depend on wave climate (the distribution of wave-approach angles) and beach characteristics. Measuring changes in beach width through time allows us to track the evolution of the shape of the beach and the movement of sand within it. By using Principle Component Analysis (PCA), these changes can be categorized into modes, where the first few modes explain the majority of the variation in the time series. We analyze these modes and how they vary as a function of wave climate and headland/bay aspect ratio. In the purposefully simple RCEM, sediment transport is wave-driven and affected by wave shadowing behind the headlands. The rock elements in our model experiments (including the headlands) are fixed and unerodable so that this analysis can focus purely on sand dynamics between the headlands, without a sand contribution from the headlands or cliffs behind the beach. The wave climate is characterized by dictating the percentage of offshore waves arriving from the left and the percentage of waves arriving from high angles (very oblique to the coastline orientation). A high-angle dominated wave climate tends to amplify coastline perturbations, whereas a lower-angle wave climate is diffusive. By changing the headland/bay aspect ratio and wave climate, we can perform PCA analysis of generalized embayed beaches with differing anatomy and wave climate forcings. Previous work using PCA analysis of embayed beaches focused on specific locations and shorter timescales (beach dynamics over longer timescales. The first two PCA modes, which explain a majority of the beach width time series variation (typically >70%), are a 'breathing' mode and a

  18. The durban beach monitoring program: simple surveys speak volumes

    CSIR Research Space (South Africa)

    de Wet, p

    2010-10-01

    Full Text Available This presentation provides a short background and history of the Durban Bay monitoring area, and then progresses to providing maps of the areas monitored. Beach survey data is discussed, and the effects of sandmining touched on....

  19. New Jersey raw (non-interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and predicting...

  20. New Jersey Mean (interpolated) Beach Slope Point Data

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The National Assessment of Coastal Change Hazards project derives beach morphology features from lidar elevation data for the purpose of understanding and predicting...

  1. Daytona Beach, Florida Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Daytona Beach, Florida Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  2. Myrtle Beach, South Carolina Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Myrtle Beach, South Carolina Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST)...

  3. Artificial Beach Lighting Survey of St. George Island

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — St. George Island SGI is a significant sea turtle nesting beach for loggerhead and occasionally leatherback sea turtles in the Florida panhandle Lewis et al 1996 ....

  4. Beach Sand Supply and Transport at Kunduchi in Tanzania and ...

    African Journals Online (AJOL)

    OCEAN. Mombasa. Dar es. Salaam. KUNDUCHI. KENYA. TANZANIA ... Figure 2. a) Reef-platform transects at Bamburi. b) Beach plain sand ..... comprised coral debris covered by turf algae .... and ocean acidification should not be ruled.

  5. Transport and distribution of bottom sediments at Pirita Beach

    Directory of Open Access Journals (Sweden)

    Soomere, Tarmo

    2007-12-01

    Full Text Available The basic factors affecting sediment supply for and transport processes at Pirita Beach, a sandy section of the south­eastern coast of Tallinn Bay, are analysed. Observations of bathymetry, sediment properties and sources, sediment transport processes and their changes arising from coastal engineering activities are reported. The mean grain size is about 0.12 mm, with the fine sand fraction (0.063–0.125 mm accounting for about 77% of the sediments. Coarse sand dominates only along the waterline. The content of coarser sediments is greater in the northern part of the beach. A number of coastal engineering structures have blocked natural sediment supplies. The beach suffers from sediment deficit now and has lost about 400 m3 of sand annually from the dry beach between 1997 and 2005.

  6. Short Communication Energy and ash contents of sandy beach ...

    African Journals Online (AJOL)

    macrofauna found on three exposed sandy beaches on the west coast ... that they often form the predominant shore type (Bally,. McQuaid ... their sediments are given in Table I. Animals ..... The biochemical composition of the tropical intertida1 ...

  7. Lido Beach National Wildlife Refuge [Land Status Map

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This map was produced by the Division of Realty to depict landownership at Lido Beach Wildlife Management Area. It was generated from rectified aerial photography,...

  8. Seafloor character--Offshore of Refugio Beach, California

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This part of SIM 3319 presents the seafloor-character map (see sheet 7) offshore of Refugio Beach, California (raster data file is included in...

  9. Impacts of Lake Level Regulation on Beaches and Boating Facilities--Lakes Erie and Ontario and Connecting Waterways. Recreation Beaches Inventory.

    Science.gov (United States)

    1979-12-18

    feet, the crews were in- structed to take additional measurements. At very long beaches, such as at Presque Isle State Park, in Pennsylvania , the...REGULATION ON BEACHES AND BOATING FACILITIES- LAKES ERIE AND) ONTARIO AND CONNECTING WATERWAYS -I RECREATION BEACHES INVENTORY 3 December 18, 1979 Contract...CATALOG NUMBER 4. TITLE (and Subtitle) S. TYPE OF REPORT & PERIOD COVERED Impacts of Lake Level Regulation on Beaches and Boating Facilities--Lake Erie and

  10. Integrated Co-management of Lakes through Beach Management Units

    OpenAIRE

    Goverment of Uganda; Department for International Development (DFID) of the UK Government

    2007-01-01

    Metadata only record In 1999, the Integrated Co-management of Lakes through Beach Management Units project was started in an effort to implement a new approach to the management of lake resources in Uganda. The main components of this plan involved decentralization, local community management, and improving the livelihood of the poor. In order to finance the management of these areas, the Beach Management Units (BMU's) are charging user fees to those individuals who obtain benefit from the...

  11. Longshore currents of regular waves on different beaches

    Institute of Scientific and Technical Information of China (English)

    邹志利; 王淑平; 邱大洪; 王艳; 王风龙; 董国海

    2003-01-01

    The experiment and numerical computations of longshore currents produced by regularwaves on the two beaches with the slopes of 1:100 and 1: 40 are made. The cross-shore distributions oflongshore current velocities and wave heights are given and the influences of wave heights, wave periodsand beach slopes on the longshore currents are discussed. The discussion is also made for the influencesof different eddy viscosity coefficients on the numerical results of longshore current velocities.

  12. Microbes in Beach Sands: Integrating Environment, Ecology and Public Health.

    Science.gov (United States)

    Whitman, Richard; Harwood, Valerie J; Edge, Thomas A; Nevers, Meredith; Byappanahalli, Muruleedhara; Vijayavel, Kannappan; Brandão, João; Sadowsky, Michael J; Alm, Elizabeth Wheeler; Crowe, Allan; Ferguson, Donna; Ge, Zhongfu; Halliday, Elizabeth; Kinzelman, Julie; Kleinheinz, Greg; Przybyla-Kelly, Kasia; Staley, Christopher; Staley, Zachery; Solo-Gabriele, Helena M

    2014-09-01

    Beach sand is a habitat that supports many microbes, including viruses, bacteria, fungi and protozoa (micropsammon). The apparently inhospitable conditions of beach sand environments belie the thriving communities found there. Physical factors, such as water availability and protection from insolation; biological factors, such as competition, predation, and biofilm formation; and nutrient availability all contribute to the characteristics of the micropsammon. Sand microbial communities include autochthonous species/phylotypes indigenous to the environment. Allochthonous microbes, including fecal indicator bacteria (FIB) and waterborne pathogens, are deposited via waves, runoff, air, or animals. The fate of these microbes ranges from death, to transient persistence and/or replication, to establishment of thriving populations (naturalization) and integration in the autochthonous community. Transport of the micropsammon within the habitat occurs both horizontally across the beach, and vertically from the sand surface and ground water table, as well as at various scales including interstitial flow within sand pores, sediment transport for particle-associated microbes, and the large-scale processes of wave action and terrestrial runoff. The concept of beach sand as a microbial habitat and reservoir of FIB and pathogens has begun to influence our thinking about human health effects associated with sand exposure and recreational water use. A variety of pathogens have been reported from beach sands, and recent epidemiology studies have found some evidence of health risks associated with sand exposure. Persistent or replicating populations of FIB and enteric pathogens have consequences for watershed/beach management strategies and regulatory standards for safe beaches. This review summarizes our understanding of the community structure, ecology, fate, transport, and public health implications of microbes in beach sand. It concludes with recommendations for future work in

  13. Medium-term dynamics of a middle Adriatic barred beach

    Directory of Open Access Journals (Sweden)

    M. Postacchini

    2017-09-01

    Full Text Available In recent years, attention has been paid to beach protection by means of soft and hard defenses. Along the Italian coast of the Adriatic Sea, sandy beaches are the most common landscape feature and around 70 % of the Marche region's coast (central Adriatic is protected by defense structures. The longest free-from-obstacle nearshore area in the region includes the beach of Senigallia, frequently monitored in the last decades and characterized by a multiple bar system, which represents a natural beach defense. The bathymetries surveyed in 2006, 2010, 2011, 2012 and 2013 show long-term stability, confirmed by a good adaptation of an analyzed stretch of the beach to the Dean-type equilibrium profile, though a strong short- to medium-term variability of the wave climate has been observed during the monitored periods. The medium-term dynamics of the beach, which deal with the evolution of submerged bars and are of the order of years or seasons, have been related to the wave climate collected, during the analyzed temporal windows, by a wave buoy located about 40 km off Senigallia. An overall interpretation of the hydrodynamics, sediment characteristics and seabed morphology suggests that the wave climate is fundamental for the morphodynamic changes of the beach in the medium term. These medium-term time ranges during which waves mainly come from NNE/ESE are characterized by a larger/smaller steepness and by a larger/smaller relative wave height, and seem to induce seaward/shoreward bar migration as well as bar smoothing/steepening. Moving southeastward, the bar dimension increases, while the equilibrium profile shape suggests the adaptation to a decreasing sediment size in the submerged beach. This is probably due to the presence of both the harbor jetty and river mouth north of the investigated area.

  14. Longshore Currents of Random Waves on Different Plane Beaches

    Institute of Scientific and Technical Information of China (English)

    邹志利; 王淑平; 邱大洪; 王艳; 王风龙; 董国海

    2003-01-01

    Model tests and numerical calculation of longshore currents and wave heights produced by irregular waves on two beaches with slopes of 1:100 and 1:40 are studied. The cross-shore distributions of longshore current velocities and wave heights are given and the influences of wave heights, wave periods, and beach slopes on longshore currents are discussed. The discussion is also made on the influences of different eddy viscosity coefficients on the numerical results of longshore current velocities.

  15. 76 FR 60492 - Adequacy Status of the Ohio Portion of the Huntington/Ashland Submitted Annual Fine Particulate...

    Science.gov (United States)

    2011-09-29

    ..., starting at 69 FR 40038, and we used the information in these resources in making our adequacy... AGENCY Adequacy Status of the Ohio Portion of the Huntington/Ashland Submitted Annual Fine Particulate... Ohio portion of the Huntington/Ashland WV-KY-OH area. Ohio submitted the insignificance findings...

  16. HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.

    Science.gov (United States)

    Träger, Ulrike; Andre, Ralph; Lahiri, Nayana; Magnusson-Lind, Anna; Weiss, Andreas; Grueninger, Stephan; McKinnon, Chris; Sirinathsinghji, Eva; Kahlon, Shira; Pfister, Edith L; Moser, Roger; Hummerich, Holger; Antoniou, Michael; Bates, Gillian P; Luthi-Carter, Ruth; Lowdell, Mark W; Björkqvist, Maria; Ostroff, Gary R; Aronin, Neil; Tabrizi, Sarah J

    2014-03-01

    Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system contributes to Huntington's disease pathogenesis and has been targeted successfully to modulate disease progression, but mechanistic understanding relating this to mutant huntingtin expression in immune cells has been lacking. Here we demonstrate that human Huntington's disease myeloid cells produce excessive inflammatory cytokines as a result of the cell-intrinsic effects of mutant huntingtin expression. A direct effect of mutant huntingtin on the NFκB pathway, whereby it interacts with IKKγ, leads to increased degradation of IκB and subsequent nuclear translocation of RelA. Transcriptional alterations in intracellular immune signalling pathways are also observed. Using a novel method of small interfering RNA delivery to lower huntingtin expression, we show reversal of disease-associated alterations in cellular function-the first time this has been demonstrated in primary human cells. Glucan-encapsulated small interfering RNA particles were used to lower huntingtin levels in human Huntington's disease monocytes/macrophages, resulting in a reversal of huntingtin-induced elevated cytokine production and transcriptional changes. These findings improve our understanding of the role of innate immunity in neurodegeneration, introduce glucan-encapsulated small interfering RNA particles as tool for studying cellular pathogenesis ex vivo in human cells and raise the prospect of immune cell-directed HTT-lowering as a therapeutic in Huntington's disease.

  17. Striatal and white matter predictors of estimated diagnosis for Huntington disease

    Science.gov (United States)

    Paulsen, Jane S.; Nopoulos, Peggy C.; Aylward, Elizabeth; Ross, Christopher A.; Johnson, Hans; Magnotta, Vincent A.; Juhl, Andrew; Pierson, Ronald K.; Mills, James; Langbehn, Douglas; Nance, Martha

    2010-01-01

    Previous MRI studies with participants prior to manifest Huntington disease have been conducted in small single-site samples. The current study reports data from a systematic multi-national study during the prodromal period of Huntington disease and examines whether various brain structures make unique predictions about the proximity to manifest disease. MRI scans were acquired from 657 participants enrolled at one of 32 PREDICT-HD research sites. Only prodromal Huntington disease participants (those not meeting motor criteria for diagnosis) were included and subgrouped by estimated diagnosis proximity (Near, Mid, and Far) based upon a formula incorporating age and CAG repeat length. Results show volumes of all three subgroups differed significantly from Controls for total brain tissue, cerebral spinal fluid, white matter, cortical gray matter, thalamus, caudate, and putamen. Total striatal volume demonstrated the largest differences between Controls and all three prodromal subgroups. Cerebral white matter offered additional independent power in the prediction of estimated proximity to diagnosis. In conclusion, this large cross-sectional study shows that changes in brain volume are detectable years to decades prior to estimated motor diagnosis of Huntington disease. This suggests that a clinical trial of a putative neuroprotective agent could begin as much as 15 years prior to estimated motor diagnosis in a cohort of persons at risk for but not meeting clinical motor diagnostic criteria for Huntington disease, and that neuroimaging (striatal and white matter volumes) may be among the best predictors of diagnosis proximity. PMID:20385209

  18. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.

    Science.gov (United States)

    Waters, Christopher W; Varuzhanyan, Grigor; Talmadge, Robert J; Voss, Andrew A

    2013-05-28

    Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show primary defects in ex vivo adult skeletal muscle from the R6/2 transgenic mouse model of Huntington disease. Action potentials in diseased fibers are more easily triggered and prolonged than in fibers from WT littermates. Furthermore, some action potentials in the diseased fibers self-trigger. These defects occur because of decreases in the resting chloride and potassium conductances. Consistent with this, the expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in disease muscle. The resulting muscle hyperexcitability causes involuntary and prolonged contractions that may contribute to the chorea, rigidity, and dystonia that characterize Huntington disease.

  19. Striatal and white matter predictors of estimated diagnosis for Huntington disease.

    Science.gov (United States)

    Paulsen, Jane S; Nopoulos, Peggy C; Aylward, Elizabeth; Ross, Christopher A; Johnson, Hans; Magnotta, Vincent A; Juhl, Andrew; Pierson, Ronald K; Mills, James; Langbehn, Douglas; Nance, Martha

    2010-05-31

    Previous MRI studies with participants prior to manifest Huntington disease have been conducted in small single-site samples. The current study reports data from a systematic multi-national study during the prodromal period of Huntington disease and examines whether various brain structures make unique predictions about the proximity to manifest disease. MRI scans were acquired from 657 participants enrolled at 1 of 32 PREDICT-HD research sites. Only prodromal Huntington disease participants (those not meeting motor criteria for diagnosis) were included and subgrouped by estimated diagnosis proximity (Near, Mid, and Far) based upon a formula incorporating age and CAG-repeat length. Results show volumes of all three subgroups differed significantly from Controls for total brain tissue, cerebral spinal fluid, white matter, cortical gray matter, thalamus, caudate, and putamen. Total striatal volume demonstrated the largest differences between Controls and all three prodromal subgroups. Cerebral white matter offered additional independent power in the prediction of estimated proximity to diagnosis. In conclusion, this large cross-sectional study shows that changes in brain volume are detectable years to decades prior to estimated motor diagnosis of Huntington disease. This suggests that a clinical trial of a putative neuroprotective agent could begin as much as 15 years prior to estimated motor diagnosis in a cohort of persons at risk for but not meeting clinical motor diagnostic criteria for Huntington disease, and that neuroimaging (striatal and white matter volumes) may be among the best predictors of diagnosis proximity.

  20. Large scale analysis of virulence genes in Escherichia coli strains isolated from Avalon Bay, CA.

    Science.gov (United States)

    Hamilton, Matthew J; Hadi, Asbah Z; Griffith, John F; Ishii, Satoshi; Sadowsky, Michael J

    2010-10-01

    Contamination of recreational waters with Escherichia coli and Enterococcus sp. is a widespread problem resulting in beach closures and loss of recreational activity. While E. coli is frequently used as an indicator of fecal contamination, and has been extensively measured in waterways, few studies have examined the presence of potentially pathogenic E. coli strains in beach waters. In this study, a combination of high-throughput, robot-assisted colony hybridization and PCR-based analyses were used to determine the genomic composition and frequency of virulence genes present in E. coli isolated from beach water in Avalon Bay, Santa Catalina Island, CA. A total of 24,493 E. coli isolates were collected from two sites at a popular swimming beach between August through September 2007 and from July through August 2008. All isolates were examined for the presence of shiga-like toxins (stx1/stx2), intimin (eaeA), and enterotoxins (ST/LT). Of the 24,493 isolates examined, 3.6% contained the eaeA gene, indicating that these isolates were potential EPEC strains. On five dates, however, greater than 10% of the strains were potential EPEC, suggesting that incidence of virulence genes at this beach has a strong temporal component. No STEC or ETEC isolates were detected, and only eight (water and their presence needs to be considered as one of the factors used in decisions concerning beach closures.

  1. Coastal processes influencing water quality at Great Lakes beaches

    Science.gov (United States)

    ,

    2013-01-01

    In a series of studies along the Great Lakes, U.S. Geological Survey scientists are examining the physical processes that influence concentrations of fecal indicator bacteria and related pathogens at recreational beaches. These studies aim to estimate human health risk, improve management strategies, and understand the fate and transport of microbes in the nearshore area. It was determined that embayed beaches act as traps, accumulating Escherichia coli (E. coli) and other bacteria in the basin and even in beach sand. Further, shear stress and wave run-up could resuspend accumulated bacteria, leading to water-contamination events. These findings are being used to target beach design and circulation projects. In previous research, it was determined that E. coli followed a diurnal pattern, with concentrations decreasing throughout the day, largely owing to solar inactivation, but rebounding overnight. Studies at a Chicago beach identified the impact of wave-induced mass transport on this phenomenon, a finding that will extend our understanding of bacterial fate in the natural environment. In another series of studies, scientists examined the impact of river outfalls on bacteria concentrations, using mechanistic and empirical modeling. Through these studies, the models can indicate range and extent of impact, given E. coli concentration in the source water. These findings have been extended to extended lengths of coastlines and have been applied in beach management using empirical predictive modeling. Together, these studies are helping scientists identify and eliminate threats to human and coastal health.

  2. Factors associated with Mediterranean diet adherence in Huntington's disease.

    Science.gov (United States)

    Rivadeneyra, Jéssica; Cubo, Esther; Gil, Cecilia; Calvo, Sara; Mariscal, Natividad; Martínez, Asunción

    2016-04-01

    Little is known about the importance of the Mediterranean Diet (MeDi) and dietary intake as environmental neuroprotective factors in Huntington's disease (HD); so, we evaluated and analyzed the prevalence and factors associated with MeDi adherence, and dietary intake in HD. Spanish participants of the European Huntington Disease Network (EHDN) Registry study diagnosed with HD or premanifest HD gene carriers were included from June 2012 to August 2013. Self-reported dietary intake was collected by 3-day dietary record, MeDi adherence was assessed by 0-9 range (proposed by Trichopoulou et al.) and, other contributing factors related to nutrition were collected by telephone. Demographics and clinical variables were obtained from the EHDN Registry study database. Association of HD with MeDi adherence and nutritional characteristics were performed using logistic regression models. Ninety eight participants were included in the study, median age of 48 years (38-60 range), and median total functional capacity (TFC) 9 (5-13 range). HD severity was similar between participants with low vs moderate/high MeDi; however, quality of life (P = 0.009) was significantly higher among participants with moderate/high MeDi adherence. In terms of nutrients, higher MUFA/SFA intake was moderately correlated with better TFC and Unified HD Rating Scale (UHDRS) cognitive. Better TFC was associated with having a caregiver (OR = 11.86, P adherence to MeDi, was associated with older participants (OR = 1.19, P = 0.031), lower comorbidity (OR = 0.18, P = 0.018), lower UHDRS motor (OR = 0.90, P = 0.041), and lower risk for abdominal obesity (OR = 0.02, P = 0.011). In HD the moderate MeDi adherence is associated with better quality of life, lower comorbidity, lower motor impairment and lower risk for abdominal obesity compared to those participants with low MeDi adherence. Copyright © 2016 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All

  3. Weather and environmental factors associated with F+ coliphages and fecal indicator bacteria in beach sand at two recreational marine beaches

    Science.gov (United States)

    Studies have demonstrated that fecal indicator bacteria (FIB) and pathogens may be present in beach sand and suggest an increased risk of enteric illness among beachgoers contacting sand. During the 2007 National Epidemiological and Environmental Assessment of Recreational (NEEAR...

  4. Post-monsoon equilibrium beach profiles and longshore sediment transport rates at Candolim, Miramar and Keri beaches of Goa, India.

    Digital Repository Service at National Institute of Oceanography (India)

    Jayakumar, S.; Yadhunath, E.M.; Jishad, M.; Gowthaman, R.; Rajasekaran, C.; Pednekar, P.S.

    Equilibrium profile is one of the concepts in coastal geomorphology which is a result of the balance of destructive versus constructive forces. Two equilibrium beach profile models, viz . Bruun/Dean’s two thirds power model and modified Bodge...

  5. Daily beach profiles and littoral environmental observations off Baga, Calangute and Miramar beaches during November-December 1999

    Digital Repository Service at National Institute of Oceanography (India)

    Jayakumar, S.; Raju, N.S.N.; Gowthaman, R.; AshokKumar, K.; Anand, N.M.

    This report presents the results of the field observations and theoretical studies on the coastal processes at Baga, Calangute and Miramar beaches along the North Goa coast, India. The field observations undertaken for a period of one month during...

  6. Striatal synaptic dysfunction and hippocampal plasticity deficits in the Hu97/18 mouse model of Huntington disease.

    Directory of Open Access Journals (Sweden)

    Karolina Kolodziejczyk

    Full Text Available Huntington disease (HD is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene (HTT encoding the huntingtin protein (HTT. This mutation leads to multiple cellular and synaptic alterations that are mimicked in many current HD animal models. However, the most commonly used, well-characterized HD models do not accurately reproduce the genetics of human disease. Recently, a new 'humanized' mouse model, termed Hu97/18, has been developed that genetically recapitulates human HD, including two human HTT alleles, no mouse Hdh alleles and heterozygosity of the HD mutation. Previously, behavioral and neuropathological testing in Hu97/18 mice revealed many features of HD, yet no electrophysiological measures were employed to investigate possible synaptic alterations. Here, we describe electrophysiological changes in the striatum and hippocampus of the Hu97/18 mice. At 9 months of age, a stage when cognitive deficits are fully developed and motor dysfunction is also evident, Hu97/18 striatal spiny projection neurons (SPNs exhibited small changes in membrane properties and lower amplitude and frequency of spontaneous excitatory postsynaptic currents (sEPSCs; however, release probability from presynaptic terminals was unaltered. Strikingly, these mice also exhibited a profound deficiency in long-term potentiation (LTP at CA3-to-CA1 synapses. In contrast, at 6 months of age we found only subtle alterations in SPN synaptic transmission, while 3-month old animals did not display any electrophysiologically detectable changes in the striatum and CA1 LTP was intact. Together, these data reveal robust, progressive deficits in synaptic function and plasticity in Hu97/18 mice, consistent with previously reported behavioral abnormalities, and suggest an optimal age (9 months for future electrophysiological assessment in preclinical studies of HD.

  7. The Impacts of Back-Beach Barriers on Sandy Beach Morphology Along the California Coast and Implications for Coastal Change with Future Sea-Level Rise

    Science.gov (United States)

    Harden, E. L.

    2010-12-01

    Coastal squeeze, or foreshore narrowing, is a result of marine encroachment, such as sea-level rise in the presence of a back-beach barrier, terrestrial encroachment, such as coastal development, or both. In California, the permanent coastal population increased by almost 10 million people between 1980 and 2003, and an additional 130 million beachgoers visit Southern California beaches each year. Beaches in California are an important component of the state and federal economy and provide hundreds of thousands of jobs. Approximately 14% of the California coast from Marin County to the Mexican border is artificially armored with seawalls, rip rap, or revetment, more than half of which protects back-beach developments or lower-lying dynamic regions like harbors and dunes. Many sandy beaches that do not have back-beach armoring are still restricted by commercial and residential infrastructure, parking lots, and roadways. Although these types of coastal infrastructure are not back-beach barriers by intentional design like seawalls and rip rap, they still restrict beaches from landward migration and can cause significant placement loss of the beach. Nearly 67 km, or 44% of the total length of sandy coastline from Long Beach to the U.S.-Mexico border is backed by such infrastructure. This study is part of a broader effort to catalog the extent to which California’s beaches are restricted in the back beach, to describe the effects of back-beach barriers on sandy beach morphology, and to predict how these different beaches might behave with future sea-level rise. Beach morphology, shoreface characteristics, and historical rates of shoreline change were compared between select beaches with back-beach barriers and unrestricted beaches using 1997 LiDAR data and shoreline rates of change published in the U.S. Geological Survey’s National Assessment of Shoreline Change report. Although preliminary results of the morphological analysis show that there is no statistically

  8. ENFERMEDAD DE HUNTINGTON: MODELOS EXPERIMENTALES Y PERSPECTIVAS TERAPÉUTICAS Huntington'disease: Experimentals Models and Therapeutic Perspectives

    Directory of Open Access Journals (Sweden)

    TERESA SERRANO SÁNCHEZ

    Full Text Available La enfermedad de Huntington (EH es un trastorno degenerativo de Weiss de origen hereditario. Hasta el momento no existe un tratamiento efectivo para la enfermedad que inexorablemente después de transcurridos 15 a 20 años, evoluciona hacia incapacidad total o muerte. En este trabajo se revisan las características clínicas y morfológicas de la EH y los modelos experimentales más utilizados para su estudio tomando como fuente, artículos indexados en la base de datos Medline publicados en los últimos 20 años. Se valoran las ventajas y desventajas de estos modelos y su perspectiva para el desarrollo de ensayos clínicos. El consenso de lo reportado plantea que de los modelos tóxicos, los inducidos por neurotoxinas tales como ácido quinolínico parecen ser los más adecuados para reproducir las características neuropatológicas, y por otro lado los modelos genéticos contribuyen con más evidencias al conocimiento del origen etiológico de la enfermedad. Numerosos tratamientos han sido aplicados en el manejo de las manifestaciones clínicas que aparecen en EH, sin poder detener o disminuir las afectaciones que derivan de la pérdida neuronal. La sintomatología clínica ha sido posible reproducirla, al menos en parte, en animales de experimentación lo que ha permitido realizar ensayos terapéuticos. Desde el punto de vista de tratamiento, lo que más promisorio parece ser, la terapia celular con células provenientes de diferentes fuentes y dentro de ellas las no neurales, que implican menor censura ética y mayor factibilidad de obtención para la aplicación en los enfermos. Por otro lado el desarrollo de la tecnología del ARN de interferencia, emerge como una herramienta terapéutica potencial para el tratamiento de EH, así como para responder interrogantes básicas relacionadas con el desarrollo de la enfermedad.Huntington'disease (HD is a degenerative dysfunction of hereditary origin. Up to date there is not, an effective treatment

  9. Understanding beach health throughout the Great Lakes-Entering a new era of investigations

    Science.gov (United States)

    ,

    2010-01-01

    For over a decade, the U.S. Geological Survey (USGS) has been a leader in the science of beach health. The overall mission of this work is to provide science-based information and methods that will allow beach managers to more accurately make beach closure and advisory decisions, understand the sources and physical processes affecting beach contaminants, and understand how science-based information can be used to mitigate and restore beaches and protect the public. The work consists of four science elements-real-time assessments; pathogens and microbial source tracking; coastal processes; and data analysis, interpretation, and communication - which are described in this fact sheet. Some of the key questions for USGS beach research are the following: Are there better ways to inform the public whether they can use a beach without risking their health? How do new rapid analytical methods compare to traditional methods for determining concentrations of fecal-indicator bacteria at beaches? Are pathogens present at beaches and, if so, how do they get to the beach, and what is their source? How do sand movement and wave action on the beach affect fecal-indicator-bacteria and pathogen concentrations in the lake water? What are the best indicators of pathogenic microorganisms? With so many potential sources of fecal contamination at a beach, what methods can be used to distinguish the contributions from humans? What characteristics of beaches contribute most to influencing bacterial indicator and pathogen concentrations in beach sands and groundwater?

  10. [IT15 gene analysis in two pedigrees of Huntington's disease].

    Science.gov (United States)

    Zhang, Bao-Rong; Song, Fei; Yin, Xin-Zhen; Xia, Kun; Tian, Jun; Huang, Jian-Zheng; Xia, Jia-Hui

    2006-11-01

    To investigate the relationship between the clinical features and (CAG)n trinucleotide repeats in two pedigrees of Chinese Huntington's disease (HD). Clinical and neuroimaging features, the age of disease onset and pattern of transmission of the patients were studied in the two pedigrees of HD. Genomic DNA of 42 family members was used for amplification of the (CAG)n repeats of IT15 gene by PCR. The numbers of (CAG)n were determined by electrophoresis through a 6% polyacrylamide gel and direct sequence analysis. Results showed that patients in pedigree 1 were absent of the typical triad of HD symptoms or caudate atrophy. A total of 9 (5 patients and 4 asymptomatic) out of 18 family members had 40-50 (CAG)n repeats in the IT15 gene. In pedigree 2, all the patients were characterized by a triad of symptoms, including motor disturbance, cognitive impairment and psychiatric features. Three patients and two asymptomatic relatives had more than 50 (CAG)n repeats in the IT15 gene. In conclusion, the clinical symptoms are partly determined by (CAG)n repeats in the IT15 gene. The age of onset was correlated with (CAG)n repeats over 50, and the phenomenon called "anticipation" was found to have played a role.

  11. Familial aggregation of schizophrenia-like symptoms in Huntington's disease.

    Science.gov (United States)

    Tsuang, D; DiGiacomo, L; Lipe, H; Bird, T D

    1998-07-10

    An increased incidence of schizophrenia-like symptoms in Huntington's disease (HD) has been well-documented in the past. The reasons for this association, however, have never been explained. At the University of Washington Medical Genetics Clinic, we had the opportunity to evaluate a unique juvenile-onset HD proband who had schizophrenia-like symptoms. This patient was referred to our clinic because of new onset of somatic delusions and command auditory hallucinations early in the course of her illness. Since we had already evaluated other affected individuals in her family, we selected another family with a nonpsychotic juvenile-onset proband for comparison. Using these two families in a small case-control study, we investigated the following hypotheses which could explain the association between schizophrenia-like symptoms and HD: first, schizophrenia-like symptoms may be related to the number of CAG repeats in the HD gene; second, schizophrenia-like symptoms may segregate in certain HD families, for unknown reasons; and third, there may coincidentally be an unrelated gene for schizophrenia in certain HD families. Comparisons of clinical characteristics and the HD genotype showed that family history of schizophrenia-like symptoms segregated with the HD gene; however, age of onset of HD, size of CAG repeat, and sex of the transmitting parent were not associated with psychotic symptoms. Further genetic and neurobiological studies are necessary to investigate the potential mechanism underlying this association.

  12. The Role of Dopamine and Glutamate Modulation in Huntington Disease

    Science.gov (United States)

    Mittal, Sumeer K.; Eddy, Clare

    2013-01-01

    Background: Huntington disease (HD) is an inherited neuropsychiatric condition with progressive neurodegenerative changes, mainly affecting the striatum. Pathological processes within the striatum are likely to lead to alterations in dopamine and glutamate activity in frontostriatal circuitry, resulting in characteristic motor, behavioural and cognitive symptoms. Methods: We conducted a systematic literature search in order to identify and review randomised, double-blinded, placebo-controlled trials of anti-dopaminergic and anti-glutamatergic therapy in HD. Results: Ten studies satisfied our selection criteria. These studies investigated a range of agents which act to antagonise dopamine (tetrabenazine, typical and atypical antipsychotics) or glutamate (amantadine, riluzole) transmission. Discussion: Although most agents showed efficacy in terms of amelioration of chorea, the available evidence did not allow us to identify a universally effective treatment. One difficulty associated with analysing the available evidence was a high prevalence of side effects, which prevented the full therapeutic potential of the medications from being adequately investigated. A further limitation is that many studies evaluated treatment effectiveness only in relation to patients' motor symptoms, even though behavioural and cognitive changes may negatively impact patients' quality of life. There is a clear need for further higher-level evidence addressing the effects of dopaminergic and glutamatergic agents on global functioning in HD. PMID:22713410

  13. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  14. Cardiac Dysfunction in the BACHD Mouse Model of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Analyne M Schroeder

    Full Text Available While Huntington's disease (HD is classified as a neurological disorder, HD patients exhibit a high incidence of cardiovascular events leading to heart failure and death. In this study, we sought to better understand the cardiovascular phenotype of HD using the BACHD mouse model. The age-related decline in cardiovascular function was assessed by echocardiograms, electrocardiograms, histological and microarray analysis. We found that structural and functional differences between WT and BACHD hearts start at 3 months of age and continue throughout life. The aged BACHD mice develop cardiac fibrosis and ultimately apoptosis. The BACHD mice exhibited adaptive physiological changes to chronic isoproterenol treatment; however, the medication exacerbated fibrotic lesions in the heart. Gene expression analysis indicated a strong tilt toward apoptosis in the young mutant heart as well as changes in genes involved in cellular metabolism and proliferation. With age, the number of genes with altered expression increased with the large changes occurring in the cardiovascular disease, cellular metabolism, and cellular transport clusters. The BACHD model of HD exhibits a number of changes in cardiovascular function that start early in the disease progress and may provide an explanation for the higher cardiovascular risk in HD.

  15. Tractography of the corpus callosum in Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Owen Phillips

    Full Text Available White matter abnormalities have been shown in presymptomatic and symptomatic Huntington's disease (HD subjects using Magnetic Resonance Imaging (MRI and Diffusion Tensor Imaging (DTI methods. The largest white matter tract, the corpus callosum (CC, has been shown to be particularly vulnerable; however, little work has been done to investigate the regional specificity of tract abnormalities in the CC. Thus, this study examined the major callosal tracts by applying DTI-based tractography. Using TrackVis, a previously defined region of interest tractography method parcellating CC into seven major tracts based on target region was applied to 30 direction DTI data collected from 100 subjects: presymptomatic HD (Pre-HD subjects (n=25, HD patients (n=25 and healthy control subjects (n=50. Tractography results showed decreased fractional anisotropy (FA and increased radial diffusivity (RD across broad regions of the CC in Pre-HD subjects. Similar though more severe deficits were seen in HD patients. In Pre-HD and HD, callosal FA and RD were correlated with Disease Burden/CAG repeat length as well as motor (UHDRSI and cognitive (URDRS2 assessments. These results add evidence that CC pathways are compromised prior to disease onset with possible demyelination occurring early in the disease and suggest that CAG repeat length is a contributing factor to connectivity deficits. Furthermore, disruption of these callosal pathways potentially contributes to the disturbances of motor and cognitive processing that characterize HD.

  16. The story of George Huntington and his disease

    Directory of Open Access Journals (Sweden)

    Kalyan B Bhattacharyya

    2016-01-01

    Full Text Available George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington′s disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder.

  17. Therapeutic Effect of Berberine on Huntington's Disease Transgenic Mouse Model.

    Directory of Open Access Journals (Sweden)

    Wenxiao Jiang

    Full Text Available Huntington disease (HD represents a family of neurodegenerative diseases that are caused by misfolded proteins. The misfolded proteins accumulate in the affected brain regions in an age-dependent manner to cause late-onset neurodegeneration. Transgenic mouse models expressing the HD protein, huntingtin, have been widely used to identify therapeutics that may retard disease progression. Here we report that Berberine (BBR, an organic small molecule isolated from plants, has protective effects on transgenic HD (N171-82Q mice. We found that BBR can reduce the accumulation of mutant huntingtin in cultured cells. More importantly, when given orally, BBR could effectively alleviate motor dysfunction and prolong the survival of transgenic N171-82Q HD mice. We found that BBR could promote the degradation of mutant huntingtin by enhancing autophagic function. Since BBR is an orally-taken drug that has been safely used to treat a number of diseases, our findings suggest that BBR can be tested on different HD animal models and HD patients to further evaluate its therapeutic effects.

  18. Triplet repeat primed PCR simplifies testing for Huntington disease.

    Science.gov (United States)

    Jama, Mohamed; Millson, Alison; Miller, Christine E; Lyon, Elaine

    2013-03-01

    Diagnostic and predictive testing for Huntington disease (HD) requires an accurate determination of the number of CAG repeats in the Huntingtin (HHT) gene. Currently, when a sample appears to be homozygous for a normal allele, additional testing is required to confirm amplification from both alleles. If the sample still appears homozygous, Southern blot analysis is performed to rule out an undetected expanded HTT allele. Southern blot analysis is expensive, time-consuming, and labor intensive and requires high concentrations of DNA. We have developed a chimeric PCR process to help streamline workflow; true homozygous alleles are easily distinguished by this simplified method, and only very large expanded alleles still require Southern blot analysis. Two hundred forty-six HD samples, previously run with a different fragment analysis method, were analyzed with our new method. All samples were correctly genotyped, resulting in 100% concordance between the methods. The chimeric PCR assay was able to identify expanded alleles up to >150 CAG repeats. This method offers a simple strategy to differentiate normal from expanded CAG alleles, thereby reducing the number of samples reflexed to Southern blot analysis. It also provides assurance that expanded alleles are not routinely missed because of allele dropout.

  19. Advances in the pharmacological management of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel; Jankovic, Joseph

    2010-03-26

    There is inevitable physical, cognitive and behavioural decline in Huntington's disease (HD), a dominantly inherited progressive neurological disorder. The hallmark of the disease is chorea, an involuntary brief movement that tends to flow between body regions. HD is diagnosed clinically with genetic confirmation. Predictive testing is available; however, it should be undertaken with caution in patients at risk for the disease but without clinical disease expression. Ongoing observational trials have identified not only early subtle motor signs, but also striatal volume, verbal memory and olfaction as possible early manifestations of clinical disease. Multiple areas of the brain degenerate, with dopamine, glutamate and GABA being the predominant neurotransmitters affected in HD. Although many pharmacotherapies have been evaluated targeting these neurotransmitters, few well conducted trials for symptomatic or neuroprotective interventions have yielded positive results. Tetrabenazine is one of the better studied and more effective agents for reducing chorea, although with a risk of potentially serious adverse effects. Newer antipsychotic agents such as olanzapine and aripiprazole may have adequate efficacy with a more favourable adverse-effect profile than older antipsychotics for treating chorea and psychosis. In this review, the pathogenesis, epidemiology and diagnosis of HD are discussed as background for understanding potential pharmacological treatment options. Potential strategies to delay the progression of HD that have been studied and are planned for the future are summarized. Although there is no current method to change the course of this devastating disease, education and symptomatic therapies are effective tools available to clinicians and the families affected by HD.

  20. Genetic Testing for Huntington's Disease: How Is the Decision Taken?

    Science.gov (United States)

    Etchegary, Holly

    2006-01-01

    Research on genetic decision-making normally constructs the decision as an opportunity for choice. However, minimal research investigates how these decisions are taken and whether those who live with genetic risk perceive the test as an opportunity for choice. Employing semistructured interviews with at-risk persons, this study explored decisions about genetic testing for Huntington's disease (HD)--a fatal genetic disorder. A primary aim was to understand how test decisions were perceived. Qualitative data analysis revealed four decision pathways: (1) no decision to be made, (2) constrained decisions, (3) reevaluating the decision, and (4) indicators of HD. Contrary to the rational, "information-processor" approach to decision making, some test decisions were immediate and automatic. These stories challenged the conventional construction of a genetic-test decision as an opportunity for choice. Participant narratives suggested that this construction may be inadequate, at least for some people who live with genetic risk. Test decisions were sometimes constrained by perceived responsibility to other family members, notably offspring. For others at risk, the test decision was a dynamic process of critical thought and evaluation. Finally, behaviors that could be symptoms of HD were the catalyst for testing.