WorldWideScience

Sample records for spokane nl 11-2

  1. Managing the Development of the Public Telecommunications Center, Spokane, Washington.

    Science.gov (United States)

    Schaar, Walter

    When the city council of Spokane (Washington) decided in 1971 to establish a cable franchise, it created a citizens' committee to set cable specifications. Representing Spokane School District 81 and KSPS-TV (a public television station licensed to the public schools of Spokane), the author of this document served on the committee that set five…

  2. Human coronavirus NL63, France

    NARCIS (Netherlands)

    Vabret, Astrid; Mourez, Thomas; Dina, Julia; van der Hoek, Lia; Gouarin, Stéphanie; Petitjean, Joëlle; Brouard, Jacques; Freymuth, François

    2005-01-01

    The human coronavirus NL63 (HCoV-NL63) was first identified in The Netherlands, and its circulation in France has not been investigated. We studied HCoV-NL63 infection in hospitalized children diagnosed with respiratory tract infections. From November 2002 to April 2003, we evaluated 300 respiratory

  3. Bayesian NL interpretation and learning

    NARCIS (Netherlands)

    Zeevat, H.

    2011-01-01

    Everyday natural language communication is normally successful, even though contemporary computational linguistics has shown that NL is characterised by very high degree of ambiguity and the results of stochastic methods are not good enough to explain the high success rate. Bayesian natural language

  4. Spokane Tribal Hatchery, 2003 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Peone, Tim L. (Spokane Tribe of Indians, Wellpinit, WA)

    2004-05-01

    Due to the construction and operation of Grand Coulee Dam (1939), anadromous salmon have been eradicated and resident fish populations permanently altered in the upper Columbia River region. Federal and private hydropower dam operations throughout the Columbia River system severely limits indigenous fish populations in the upper Columbia. Artificial production has been determined appropriate for supporting a harvestable fishery for kokanee salmon (Oncorhynchus nerka) and rainbow trout (Oncorhynchus mykiss) in Lake Roosevelt and Banks Lake (Grand Coulee Dam impoundments). A collaborative multi-agency artificial production program for the Lake Roosevelt and Banks Lake fisheries exists consisting of the Spokane Tribal Hatchery, Sherman Creek Hatchery, Ford Trout Hatchery and the Lake Roosevelt Kokanee and Rainbow Trout Net Pen Rearing Projects. These projects operate complementary of one another to target an annual release of 1 million yearling kokanee and 500,000 yearling rainbow trout for Lake Roosevelt and 1.4 million kokanee fry/fingerlings for Banks Lake. Combined fish stocking by the hatcheries and net pen rearing projects in 2003 included: 899,168 kokanee yearlings released into Lake Roosevelt; 1,087,331 kokanee fry/fingerlings released into Banks Lake, 44,000 rainbow trout fingerlings and; 580,880 rainbow trout yearlings released into Lake Roosevelt. Stock composition of 2003 releases consisted of Lake Whatcom kokanee, 50:50 diploid-triploid Spokane Trout Hatchery (McCloud River) rainbow trout and Phalon Lake red-band rainbow trout. All kokanee were marked with either thermal, oxytetracyline or fin clips prior to release. Preliminary 2003 Lake Roosevelt fisheries investigations indicate hatchery/net pen stocking significantly contributed to harvestable rainbow trout and kokanee salmon fisheries. An increase in kokanee harvest was primarily owing to new release strategies. Walleye predation, early maturity and entrainment through Grand Coulee Dam continues to

  5. Spokane Tribal Hatchery, 2005 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Peone, Tim L. (Spokane Tribe of Indians, Wellpinit, WA)

    2006-03-01

    Due to the construction and operation of Grand Coulee Dam (1939), anadromous salmon have been eradicated and resident fish populations permanently altered in the upper Columbia River region. Federal and private hydropower dam operations throughout the Columbia River system severely limits indigenous fish populations in the upper Columbia. Artificial production has been determined appropriate for supporting harvestable fisheries for kokanee salmon (Oncorhynchus nerka) and rainbow trout (Oncorhynchus mykiss) in Lake Roosevelt and Banks Lake (Grand Coulee Dam impoundments). The Spokane Tribe, Washington Department of Fish and Wildlife, Colville Confederated Tribes and Lake Roosevelt Development Association/Lake Roosevelt Volunteer Net Pen Project are cooperating in a comprehensive artificial production program to produce kokanee salmon (Oncorhynchus nerka) and rainbow trout (Oncorhynchus mykiss) for annual releases into the project area. The program consists of the Spokane Tribal Hatchery, Sherman Creek Hatchery, Ford Trout Hatchery and Lake Roosevelt Rainbow Trout Net Pen Rearing Projects. The Lake Roosevelt and Banks Lake Fisheries Evaluation Program monitor and evaluates release strategies and production methods for the aforementioned projects. Between 1985 and 2005 the projects have collectively produced up to 800,000 rainbow trout and 4 million kokanee salmon for release into Lake Roosevelt and 1.4 million kokanee fry for Banks Lake annually. In 2005, the annual release goal included 3.3 million kokanee fry, 475,000 kokanee yearlings and 500,000 rainbow trout yearlings. Fish produced by this project in 2005 to meet collective fish production and release goals included: 3,446,438 kokanee fingerlings, 347,730 rainbow trout fingerlings and 525,721 kokanee yearlings. Kokanee yearlings were adipose fin clipped before release. Stock composition consisted of Meadow Creek and Lake Whatcom kokanee, diploid-triploid Spokane Trout Hatchery (McCloud River) rainbow trout and

  6. Spokane Tribal Hatchery, 2004 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Peone, Tim L. (Spokane Tribe of Indians, Wellpinit, WA)

    2005-03-01

    Due to the construction and operation of Grand Coulee Dam (1939), anadromous salmon have been eradicated and resident fish populations permanently altered in the upper Columbia River region. Federal and private hydropower dam operations throughout the Columbia River system severely limits indigenous fish populations in the upper Columbia. Artificial production has been determined appropriate for supporting a harvestable fishery for kokanee salmon (Oncorhynchus nerka) and rainbow trout (Oncorhynchus mykiss) in Lake Roosevelt and Banks Lake (Grand Coulee Dam impoundments). A collaborative multi-agency artificial production program for the Lake Roosevelt and Banks Lake fisheries exists consisting of the Spokane Tribal Hatchery, Sherman Creek Hatchery, Ford Trout Hatchery and the Lake Roosevelt Kokanee and Rainbow Trout Net Pen Rearing Projects. These projects operate complementary of one another to target an annual release of 1 million yearling kokanee and 500,000 yearling rainbow trout for Lake Roosevelt and 1.4 million kokanee fry/fingerlings for Banks Lake. Fish produced by this project in 2004 to meet collective fish production and release goals included: 1,655,722 kokanee fingerlings, 537,783 rainbow trout fingerlings and 507,660 kokanee yearlings. Kokanee yearlings were adipose fin clipped before release. Stock composition consisted of Lake Whatcom kokanee, 50:50 diploid-triploid Spokane Trout Hatchery (McCloud River) rainbow trout and Phalon Lake red-band rainbow trout. All kokanee were marked with either thermal, oxytetracyline or fin clips prior to release. Preliminary 2004 Lake Roosevelt fisheries investigations indicate hatchery/net pen stocking significantly contributed to harvestable rainbow trout and kokanee salmon fisheries. An increase in kokanee harvest was primarily owing to new release strategies. Walleye predation, early maturity and entrainment through Grand Coulee Dam continues to have a negative impact on adult kokanee returns and limits the

  7. Compilation of geologic, hydrologic, and ground-water flow modeling information for the Spokane Valley-Rathdrum Prairie aquifer, Spokane County, Washington, and Bonner and Kootenai Counties, Idaho

    Science.gov (United States)

    Kahle, Sue C.; Caldwell, Rodney R.; Bartolino, James R.

    2005-01-01

    The U.S. Geological Survey, in cooperation with the Idaho Department of Water Resources and Washington Department of Ecology compiled and described geologic, hydrologic, and ground-water flow modeling information about the Spokane Valley-Rathdrum Prairie (SVRP) aquifer in northern Idaho and northeastern Washington. Descriptions of the hydrogeologic framework, water-budget components, ground- and surface-water interactions, computer flow models, and further data needs are provided. The SVRP aquifer, which covers about 370 square miles including the Rathdrum Prairie, Idaho and the Spokane valley and Hillyard Trough, Washington, was designated a Sole Source Aquifer by the U.S. Environmental Protection Agency in 1978. Continued growth, water management issues, and potential effects on water availability and water quality in the aquifer and in the Spokane and Little Spokane Rivers have illustrated the need to better understand and manage the region's water resources. The SVRP aquifer is composed of sand, gravel, cobbles, and boulders primarily deposited by a series of catastrophic glacial outburst floods from ancient Glacial Lake Missoula. The material deposited in this high-energy environment is coarser-grained than is typical for most basin-fill deposits, resulting in an unusually productive aquifer with well yields as high as 40,000 gallons per minute. In most places, the aquifer is bounded laterally by bedrock composed of granite, metasedimentary rocks, or basalt. The lower boundary of the aquifer is largely unknown except along the margins or in shallower parts of the aquifer where wells have penetrated its entire thickness and reached bedrock or silt and clay deposits. Based on surface geophysics, the thickness of the aquifer is about 500 ft near the Washington-Idaho state line, but more than 600 feet within the Rathdrum Prairie and more than 700 feet in the Hillyard trough based on drilling records. Depth to water in the aquifer is greatest in the northern

  8. 78 FR 7448 - Final Environmental Impact Statement for the Proposed Spokane Tribe of Indians West Plains Casino...

    Science.gov (United States)

    2013-02-01

    ... Proposed Spokane Tribe of Indians West Plains Casino and Mixed Use Project, City of Airway Heights, Spokane...) for the Spokane Tribe of Indians West Plains Casino and Mixed Use Project, City of Airway Heights... casino-resort facility, parking structure, site retail, commercial building, tribal cultural center, and...

  9. 77 FR 12873 - Draft Environmental Impact Statement for the Proposed Spokane Tribe of Indians West Plains Casino...

    Science.gov (United States)

    2012-03-02

    ... Proposed Spokane Tribe of Indians West Plains Casino and Mixed Use Project, City of Airway Heights, Spokane... statement with the U.S. Environmental Protection Agency for the Spokane Tribe of Indians West Plains casino... determination by the Secretary of the Interior; and (2) development of a casino-resort facility, parking...

  10. 77 FR 24976 - Draft Environmental Impact Statement for the Proposed Spokane Tribe of Indians West Plains Casino...

    Science.gov (United States)

    2012-04-26

    ... DEPARTMENT OF THE INTERIOR Bureau of Indian Affairs Draft Environmental Impact Statement for the Proposed Spokane Tribe of Indians West Plains Casino and Mixed Use Project, City of Airway Heights, Spokane... Impact Statement (DEIS) for the Spokane Tribe of Indians West Plains casino and mixed use project, City...

  11. Final Environmental Assessment (EA) for Headquarters Building Construction and Main Gate Reconfiguration White Bluff, Spokane, Washington

    Science.gov (United States)

    2012-12-01

    in 1954 and operated as Army Nike Missile Control Site until 1963. It was then converted to a USAF satellite operations center operated by USAF...Source Study: Spokane Satellite Tracking Office. Prepared for US Army Corps of Engineers by Adams and Clark, Inc ., Spokane, WA. Archaeological and

  12. Ontwerprapport 2005 kiesBeter.nl

    NARCIS (Netherlands)

    Loon AJM van; PCAl Droomers; E Keesman; H Janssen; JAM Lijdsman; HB Mulder; Veen AA van der; Vrijsen WJJ; VTV

    2005-01-01

    Since September 2004 RIVM's Centre for Public Health Forecasting (VTV) in the Netherlands has been working on the development of an Internet portal for the general public called kiesBeter.nl ('Make a better choice'). Via this portal, consumers will have access to integrated information on health,

  13. Seroconversion to HCoV-NL63 in Rhesus Macaques

    Directory of Open Access Journals (Sweden)

    Lia van der Hoek

    2009-10-01

    Full Text Available HCoV-NL63 is a recently identified respiratory virus. Its pathogenesis has not been fully unraveled because an animal model is currently lacking. Here we examined whether rhesus macaques encounter HCoV-NL63 infections during life, by examining the levels of antibodies to HCoV-NL63 in time. The animals were followed for 7 up till 19 years, and in three animals we observed a steep rise in antibodies during follow up, indicative of a natural infection with HCoV-NL63.

  14. Ground-Water Flow Model for the Spokane Valley-Rathdrum Prairie Aquifer, Spokane County, Washington, and Bonner and Kootenai Counties, Idaho

    Science.gov (United States)

    Hsieh, Paul A.; Barber, Michael E.; Contor, Bryce A.; Hossain, Md. Akram; Johnson, Gary S.; Jones, Joseph L.; Wylie, Allan H.

    2007-01-01

    This report presents a computer model of ground-water flow in the Spokane Valley-Rathdrum Prairie (SVRP) aquifer in Spokane County, Washington, and Bonner and Kootenai Counties, Idaho. The aquifer is the sole source of drinking water for more than 500,000 residents in the area. In response to the concerns about the impacts of increased ground-water withdrawals resulting from recent and projected urban growth, a comprehensive study was initiated by the Idaho Department of Water Resources, the Washington Department of Ecology, and the U.S. Geological Survey to improve the understanding of ground-water flow in the aquifer and of the interaction between ground water and surface water. The ground-water flow model presented in this report is one component of this comprehensive study. The primary purpose of the model is to serve as a tool for analyzing aquifer inflows and outflows, simulating the effects of future changes in ground-water withdrawals from the aquifer, and evaluating aquifer management strategies. The scale of the model and the level of detail are intended for analysis of aquifer-wide water-supply issues. The SVRP aquifer model was developed by the Modeling Team formed within the comprehensive study. The Modeling Team consisted of staff and personnel working under contract with the Idaho Department of Water Resources, personnel working under contract with the Washington Department of Ecology, and staff of the U.S. Geological Survey. To arrive at a final model that has the endorsement of all team members, decisions on modeling approach, methodology, assumptions, and interpretations were reached by consensus. The ground-water flow model MODFLOW-2000 was used to simulate ground-water flow in the SVPR aquifer. The finite-difference model grid consists of 172 rows, 256 columns, and 3 layers. Ground-water flow was simulated from September 1990 through September 2005 using 181 stress periods of 1 month each. The areal extent of the model encompasses an area of

  15. 19 CFR 11.2 - Manufactured tobacco.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Manufactured tobacco. 11.2 Section 11.2 Customs... PACKING AND STAMPING; MARKING Packing and Stamping § 11.2 Manufactured tobacco. (a) If the invoice and entry presented for manufactured tobacco specify all the information necessary for prompt determination...

  16. Metropolitan Spokane Region Water Resources Study. Appendix E. Environment and Recreation

    Science.gov (United States)

    1976-01-01

    at Porcupine Bay, maintains a small but productive fishery for walleye pike and large mouth bass. The principal fishery is for walleye pike which takes...elevations. The whitetail deer of the Spokane area are part of the Coeur d’Alene herd . They favor the lower elevations and adapt very well to the river

  17. 28 CFR 11.2 - Pilot program.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 1 2010-07-01 2010-07-01 false Pilot program. 11.2 Section 11.2 Judicial... Pilot program. The Assistant Attorney General for Administration, in consultation with the Executive Office for United States Attorneys, shall designate the districts that will participate in the pilot...

  18. Notification: EPA Region 10 Management Controls Over Allowing Substantial Public Funds to Construct the Spokane County Wastewater Treatment Facility

    Science.gov (United States)

    January 20, 2012. This EPA's OIG is initiating a review from an OIG hotline complaint regarding whether federal funds were properly used to construct the new Spokane County wastewater treatment facility in accordance with 40 CFR 35, Subpart K.

  19. Evolution of fNL to the adiabatic limit

    International Nuclear Information System (INIS)

    Elliston, Joseph; Mulryne, David J.; Tavakol, Reza; Seery, David

    2011-01-01

    We study inflationary perturbations in multiple-field models, for which ζ typically evolves until all isocurvature modes decay — the a diabatic limit . We use numerical methods to explore the sensitivity of the local-shape bispectrum to the process by which this limit is achieved, finding an appreciable dependence on model-specific data such as the time at which slow-roll breaks down or the timescale of reheating. In models with a sum-separable potential where the isocurvature modes decay before the end of the slow-roll phase we give an analytic criterion for the asymptotic value of f NL to be large. Other examples can be constructed using a waterfall field to terminate inflation while f NL is transiently large, caused by descent from a ridge or convergence into a valley. We show that these two types of evolution are distinguished by the sign of the bispectrum, and give approximate expressions for the peak f NL

  20. Stofmisbrugsbehandling blandt grønlændere i Danmark

    DEFF Research Database (Denmark)

    Baviskar, Siddhartha

    2016-01-01

    undersøgelsen af en forløbsanalyse af en udvalgt gruppe på 221 grønlændere over en 5-årig periode, 2007-2011. Denne gruppe ankom for første gang til Danmark i 2007 og opholdt sig i landet i alle årene til og med 2011. Dermed opnår vi viden om både graden af sårbarhed blandt grønlænderne på stofmisbrugsområdet...... målt i forhold til de øvrige danskere, og hvordan grønlændernes sårbarhed ændrer sig over tid i Danmark. Oplysninger vedrørende stofmisbrugsbehandling stammer fra Register over stofmisbrugere i behandling (SIB), som er et register over borgere, der gennem deres kommune er visiteret til behandling...

  1. Ontwerprapport kiesBeter.nl 2006-2007

    NARCIS (Netherlands)

    Loon AJM van; Tolboom RAL; VTV

    2006-01-01

    KiesBeter.nl (Make better choices) is a Dutch public Internet portal offering viewers answers to all their questions on health and health care. This is an initiative of the Dutch Ministry of Health, Welfare and Sport set up to encourage well-informed citizens to play a greater role in the

  2. 22q11.2 deletion syndrome

    Science.gov (United States)

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2016-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  3. Evolution of f{sub NL} to the adiabatic limit

    Energy Technology Data Exchange (ETDEWEB)

    Elliston, Joseph; Mulryne, David J.; Tavakol, Reza [School of Physics and Astronomy, Queen Mary University of London, Mile End Road, London E1 4NS (United Kingdom); Seery, David, E-mail: J.Elliston@qmul.ac.uk, E-mail: D.Mulryne@qmul.ac.uk, E-mail: D.Seery@sussex.ac.uk, E-mail: R.Tavakol@qmul.ac.uk [Astronomy Centre, University of Sussex, Falmer, Brighton BN1 9QH (United Kingdom)

    2011-11-01

    We study inflationary perturbations in multiple-field models, for which ζ typically evolves until all isocurvature modes decay — the {sup a}diabatic limit{sup .} We use numerical methods to explore the sensitivity of the local-shape bispectrum to the process by which this limit is achieved, finding an appreciable dependence on model-specific data such as the time at which slow-roll breaks down or the timescale of reheating. In models with a sum-separable potential where the isocurvature modes decay before the end of the slow-roll phase we give an analytic criterion for the asymptotic value of f{sub NL} to be large. Other examples can be constructed using a waterfall field to terminate inflation while f{sub NL} is transiently large, caused by descent from a ridge or convergence into a valley. We show that these two types of evolution are distinguished by the sign of the bispectrum, and give approximate expressions for the peak f{sub NL}.

  4. Evolution of fNL to the adiabatic limit

    Science.gov (United States)

    Elliston, Joseph; Mulryne, David J.; Seery, David; Tavakol, Reza

    2011-11-01

    We study inflationary perturbations in multiple-field models, for which ζ typically evolves until all isocurvature modes decay — the "adiabatic limit". We use numerical methods to explore the sensitivity of the local-shape bispectrum to the process by which this limit is achieved, finding an appreciable dependence on model-specific data such as the time at which slow-roll breaks down or the timescale of reheating. In models with a sum-separable potential where the isocurvature modes decay before the end of the slow-roll phase we give an analytic criterion for the asymptotic value of fNL to be large. Other examples can be constructed using a waterfall field to terminate inflation while fNL is transiently large, caused by descent from a ridge or convergence into a valley. We show that these two types of evolution are distinguished by the sign of the bispectrum, and give approximate expressions for the peak fNL.

  5. 78 FR 2428 - Notice of Intent To Repatriate Cultural Items: Northwest Museum of Arts & Culture, Spokane, WA

    Science.gov (United States)

    2013-01-11

    ... & Culture, also the Eastern Washington State Historical Society, Spokane, WA, that meet the definition of... the Eastern Washington State Historical Society, in consultation with the appropriate Indian tribe, has determined that the cultural items meet the definition of unassociated funerary objects and...

  6. 75 FR 58424 - Notice of Intent to Repatriate Cultural Items: Northwest Museum of Arts & Culture, Spokane, WA

    Science.gov (United States)

    2010-09-24

    ... Museum of Arts & Culture, aka Eastern Washington State Historical Society, Spokane, WA, that meet the definition of unassociated funerary objects under 25 U.S.C. 3001. This notice is published as part of the... Eastern Washington State Historical Society (now Northwest Museum of Arts & Culture), University of...

  7. Named Entity Recognition in a Hungarian NL Based QA System

    Science.gov (United States)

    Tikkl, Domonkos; Szidarovszky, P. Ferenc; Kardkovacs, Zsolt T.; Magyar, Gábor

    In WoW project our purpose is to create a complex search interface with the following features: search in the deep web content of contracted partners' databases, processing Hungarian natural language (NL) questions and transforming them to SQL queries for database access, image search supported by a visual thesaurus that describes in a structural form the visual content of images (also in Hungarian). This paper primarily focuses on a particular problem of question processing task: the entity recognition. Before going into details we give a short overview of the project's aims.

  8. Electric dipole f values for Fe II J=9/2->11/2^o transitions

    Science.gov (United States)

    Beck, Donald R.

    2007-06-01

    Relativistic configuration-interaction f values have been obtained for all transitions between the lowest 17 J=9/2 and the lowest 27 J=11/2^o levels. The 35 f values >0.01 have an average gauge agreement of 3.6% and generally agree well with the semi-empirical results of Raassen ootnotetextA. J. J. Raassen, ftp://ftp.wins.uva.nl/pub/orth/iron/FeII.E1 (1999).. The near degeneracy of many of the odd levels requires the introduction of small semi-empirical energy shifts ootnotetextD. R. Beck, Phys. Scr. 71, 447 (2005).. A systematic way of estimating radial convergence is discussed.

  9. A Portal to Dutch Academic Heritage: www.academischecollecties.nl

    Directory of Open Access Journals (Sweden)

    Henriette Reerink

    2013-01-01

    Full Text Available The UNICUM development project, commissioned by the Dutch Academic Heritage Foundation Stichting Academisch Erfgoed (SAE, has been carried out by the five classic Dutch universities in 2010– 2012. UNICUM, short for ‘University Collections and University Museums’, has received a national government grant to create a digital portal to Dutch academic heritage. The portal, which can be reached via www.academischecollecties.nl, presents both academic archives and museum and library collections. Images, collection metadata and items can be found on one site. The UNICUM idea is inspired by the Online Archive of California. The project is important because it crosses the traditional sector boundaries between museums, libraries and archives, it creates awareness of the opportunities which this cross-sectoral approach offers, and it retains the context of – and the relation between – objects within collections as a whole. Moreover, the joint effort brings to light the importance of creating metadata according to international standards to stimulate re-use and exchange of content. In addition, UNICUM intended to be a technical project in which multi-level descriptions are presented and can be browsed in a structured way (collections linked to objects, and archives linked to separate documents. Now the project is finished, the focus will shift to generating content.

  10. Radon and remedial action in Spokane River Valley residences: an interim report

    International Nuclear Information System (INIS)

    Turk, B.H.; Prill, R.J.; Fisk, W.J.; Grimsrud, D.T.; Moed, B.A.; Sextro, R.G.

    1986-03-01

    Fifty-six percent of 46 residences monitored in the Spokane River Valley in eastern Washington/northern Idaho have indoor radon concentrations above the National Council for Radiation Protection (NCRP) guidelines of 8 pCi/1. Indoor levels were over 20 pCi/1 in eight homes, and ranged up to 132 pCi/1 in one house. Radon concentrations declined by factors of 4 to 38 during summer months. Measurements of soil emanation rates, domestic water supply concentrations, and building material flux rates indicate that diffusion of radon does not significantly contribute to the high concentrations observed. Rather, radon entry is dominated by pressure-driven bulk soil gas transport, aggravated by the local subsurface soil composition and structure. A variety of radon control strategies are being evaluated in 14 of these homes. Sub-surface ventilation by depressurization and overpressurization, basement overpressurization, and crawlspace ventilation are capable of successfully reducing radon levels below 5 pCi/1 in these homes. House ventilation is appropriate in buildings with low-moderate concentrations, while sealing of cracks has been relatively ineffective

  11. Small-scale geodiversity and dirt road management, Ede (NL)

    Science.gov (United States)

    van den Ancker, Hanneke; Jungerius, Pieter Dirk

    2016-04-01

    A large part of the countryside roads on the Pleistocene sands of The Netherlands are dirt roads. Most are footpaths, but a small percentage are relatively heavily used by motorized vehicles. These latter roads are a cause subject of debate. Puddles and potholes develop during periods of wet weather, while dust whirls from the roads form during spells of dry weather as do washboard ripples. They cause problems for people living along these roads and tourists (walkers and bikers. The community of Ede (NL), like many other communities on the sand, wants to keep its 80 km of dirt roads because of the natural values they harbour as well as for their characteristic landscape quality and cultural heritage value. A part of the dirt roads in Ede is heavily used. In 2009, the community of Ede developed a decision model to support management of the dirt roads. Ede acknowledges that each dirt road is unique and asks for a tailor-made solution. Road maintenance measures include grading, making a camber, digging pits, applying loam or sandy loam. If problems become too large, one-way traffic can be an option. In more and more cases the dirt roads are barred for motorized through traffic (Gemeente Ede, 2009). As a reconnaissance we have studied the dirt roads of the Horabos/Horalaan over the last year. Incidentally we looked at other parts of the main Horalaan and the footpaths in the adjacent forest of Hoekelum. All dirt roads lie near the top of a Saalian push-moraine in which the upper course of dry valleys are present. Some results of the reconnaissance: - Most dirt roads sections in the Horabos lie lower than the surrounding terrain; - The problems develop in a short period of time during special weather conditions; - Certain dirt road sections e.g. those sections crossing a slight depression are quickly developing potholes; - Even a small slope of the road (differences that have consequences for its maintenance. Knowledge of geodiversity of the terrain and study of small

  12. Epidemiology of human coronavirus NL63 infection among hospitalized patients with pneumonia in Taiwan.

    Science.gov (United States)

    Huang, Su-Hua; Su, Mei-Chi; Tien, Ni; Huang, Chien-Jhen; Lan, Yu-Ching; Lin, Chen-Sheng; Chen, Chao-Hsien; Lin, Cheng-Wen

    2017-12-01

    Human coronavirus (HCoV) NL63 is recognized in association with upper or lower respiratory tract illnesses in children. This study surveyed the prevalence of HCoV-NL63 and influenza viruses in patients with influenza-like illness in Taiwan during 2010-2011. Throat samples from 107 hospitalized patients with pneumonia and 175 outpatients with influenza-like illness were examined using real-time polymerase chain reaction assays with virus-specific primers, and then virus-positive specimens were confirmed by sequencing the polymerase chain reaction products. HCoV-NL63 infection was identified in 8.4% (9/107) of hospitalized patients with pneumonia, but not found in outpatients with influenza-like illness. Age distribution of HCoV-NL63 infection in hospitalized patients with pneumonia indicated that the group aged 16-25 years (20%) had the highest positive rate compared with the other groups, and exhibited a similar age-specific pattern to influenza A/H1N1 infection, but not influenza A/H3N2 and B infections in hospitalized patients. Seasonal prevalence of HCoV-NL63 infection was late winter, overlapping the highest peak of the influenza A/H1N1 epidemic during December 2010 to March 2011 in Taiwan. Co-infection of HCoV-NL63 and influenza A/H1N1 was detected in three hospitalized patients. Clinical manifestation analysis indicated that the main symptoms for HCoV-NL63 infection included fever (88.9%), cough (77.8%), and pneumonia (100%). Co-infection caused significantly higher rates of breathing difficulties, cough, and sore throat than those of single infection with HCoV-NL63 and influenza A/H1N1. Phylogenetic analysis indicated a low level of heterogeneity between Taiwan and global HCoV-NL63 strains. Understanding epidemiology of HCoV-NL63 in Taiwan provides an insight for worldwide surveillance of HCoV-NL63 infection. Copyright © 2015. Published by Elsevier B.V.

  13. HomeNL: Homecare Assistance in Natural Language. An Intelligent Conversational Agent for Hypertensive Patients Management.

    OpenAIRE

    Rojas Barahona , Lina Maria; Quaglini , Silvana; Stefanelli , Mario

    2009-01-01

    International audience; The prospective home-care management will probably of- fer intelligent conversational assistants for supporting patients at home through natural language interfaces. Homecare assistance in natural lan- guage, HomeNL, is a proof-of-concept dialogue system for the manage- ment of patients with hypertension. It follows up a conversation with a patient in which the patient is able to take the initiative. HomeNL pro- cesses natural language, makes an internal representation...

  14. Superfund record of decision (EPA Region 2): NL Industries, Inc. , Pedricktown, NJ, July 1994

    Energy Technology Data Exchange (ETDEWEB)

    1994-07-08

    This Record of Decision documents the U.S. Environmental Protection Agency's (EPA's) selection of the remedial action for the NL Industries, Inc. site. The remedial action described in this document represents the second of two planned phases, or operable units, at the NL Industries site. This action, designated as Operable Unit One, addresses contaminated ground water, surface water, soils and stream sediments at the site.

  15. Response of ponderosa pine stands to pre-commercial thinning on Nez Perce and Spokane Tribal forests in the Inland Northwest, USA

    Science.gov (United States)

    Dennis E. Ferguson; John C. Byrne; William R. Wykoff; Brian Kummet; Ted Hensold

    2011-01-01

    Stands of dense, natural ponderosa pine (Pinus ponderosa var. ponderosa) regeneration were operationally, precommercially thinned at seven sites - four on Nez Perce Tribal lands in northern Idaho and three on Spokane Tribal lands in eastern Washington. Five spacing treatments were studied - control (no thinning), 5x5 ft, 7x7 ft, 10x10 ft, and 14x14 ft. Sample trees...

  16. Stratejik Yönlülüklerin Yenilik ve Performans Üzerindeki Etkisi

    OpenAIRE

    OFLAZOĞLU, Sonyel; KOÇAK, Akın

    2012-01-01

    Bu çalışma; işletmelerin stratejik yönlülüklerinin (pazar yönlülük, girişimci yönlülük ve teknoloji yönlülük) yenilik ve performans üzerindeki etkisini ortaya koymayı amaçlamaktadır. Çalışmada stratejik yönlülüklerin hem finansal başarıda hem de müşteri değeri yaratmada yenilik aracılığıyla olumlu etkilerin olduğu varsayımı altında bir model geliştirilmiştir. Çalışma endüstriyel firmalarla sınırlanmıştır. Türkiye’de sanayisi gelişmiş 12 il’deki 845 işletme üzerinde yapılmıştır. Verilerin anal...

  17. Crystal structure of NL63 respiratory coronavirus receptor-binding domain complexed with its human receptor

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Kailang; Li, Weikai; Peng, Guiqing; Li, Fang; (Harvard-Med); (UMM-MED)

    2010-03-04

    NL63 coronavirus (NL63-CoV), a prevalent human respiratory virus, is the only group I coronavirus known to use angiotensin-converting enzyme 2 (ACE2) as its receptor. Incidentally, ACE2 is also used by group II SARS coronavirus (SARS-CoV). We investigated how different groups of coronaviruses recognize the same receptor, whereas homologous group I coronaviruses recognize different receptors. We determined the crystal structure of NL63-CoV spike protein receptor-binding domain (RBD) complexed with human ACE2. NL63-CoV RBD has a novel {beta}-sandwich core structure consisting of 2 layers of {beta}-sheets, presenting 3 discontinuous receptor-binding motifs (RBMs) to bind ACE2. NL63-CoV and SARS-CoV have no structural homology in RBD cores or RBMs; yet the 2 viruses recognize common ACE2 regions, largely because of a 'virus-binding hotspot' on ACE2. Among group I coronaviruses, RBD cores are conserved but RBMs are variable, explaining how these viruses recognize different receptors. These results provide a structural basis for understanding viral evolution and virus-receptor interactions.

  18. UltiMatch-NL: a Web service matchmaker based on multiple semantic filters.

    Science.gov (United States)

    Mohebbi, Keyvan; Ibrahim, Suhaimi; Zamani, Mazdak; Khezrian, Mojtaba

    2014-01-01

    In this paper, a Semantic Web service matchmaker called UltiMatch-NL is presented. UltiMatch-NL applies two filters namely Signature-based and Description-based on different abstraction levels of a service profile to achieve more accurate results. More specifically, the proposed filters rely on semantic knowledge to extract the similarity between a given pair of service descriptions. Thus it is a further step towards fully automated Web service discovery via making this process more semantic-aware. In addition, a new technique is proposed to weight and combine the results of different filters of UltiMatch-NL, automatically. Moreover, an innovative approach is introduced to predict the relevance of requests and Web services and eliminate the need for setting a threshold value of similarity. In order to evaluate UltiMatch-NL, the repository of OWLS-TC is used. The performance evaluation based on standard measures from the information retrieval field shows that semantic matching of OWL-S services can be significantly improved by incorporating designed matching filters.

  19. NL(q) Theory: A Neural Control Framework with Global Asymptotic Stability Criteria.

    Science.gov (United States)

    Vandewalle, Joos; De Moor, Bart L.R.; Suykens, Johan A.K.

    1997-06-01

    In this paper a framework for model-based neural control design is presented, consisting of nonlinear state space models and controllers, parametrized by multilayer feedforward neural networks. The models and closed-loop systems are transformed into so-called NL(q) system form. NL(q) systems represent a large class of nonlinear dynamical systems consisting of q layers with alternating linear and static nonlinear operators that satisfy a sector condition. For such NL(q)s sufficient conditions for global asymptotic stability, input/output stability (dissipativity with finite L(2)-gain) and robust stability and performance are presented. The stability criteria are expressed as linear matrix inequalities. In the analysis problem it is shown how stability of a given controller can be checked. In the synthesis problem two methods for neural control design are discussed. In the first method Narendra's dynamic backpropagation for tracking on a set of specific reference inputs is modified with an NL(q) stability constraint in order to ensure, e.g., closed-loop stability. In a second method control design is done without tracking on specific reference inputs, but based on the input/output stability criteria itself, within a standard plant framework as this is done, for example, in H( infinity ) control theory and &mgr; theory. Copyright 1997 Elsevier Science Ltd.

  20. MijnOU.nl (proef met een sociale netwerkdienst binnen de Open Universiteit)

    NARCIS (Netherlands)

    Eshuis, Jannes; Hermans, Henry

    2010-01-01

    Doel van het project Mijnou.nl Het ideaal van een volledig gepersonaliseerd startportaal, waarin studenten via een Single Sign On (SSO) toegang vinden tot al het leermateriaal waarop zij rechten hebben verworven, relevante informatie vinden over activiteiten op studiecentra, contacten kunnen

  1. UltiMatch-NL: A Web Service Matchmaker Based on Multiple Semantic Filters

    Science.gov (United States)

    Mohebbi, Keyvan; Ibrahim, Suhaimi; Zamani, Mazdak; Khezrian, Mojtaba

    2014-01-01

    In this paper, a Semantic Web service matchmaker called UltiMatch-NL is presented. UltiMatch-NL applies two filters namely Signature-based and Description-based on different abstraction levels of a service profile to achieve more accurate results. More specifically, the proposed filters rely on semantic knowledge to extract the similarity between a given pair of service descriptions. Thus it is a further step towards fully automated Web service discovery via making this process more semantic-aware. In addition, a new technique is proposed to weight and combine the results of different filters of UltiMatch-NL, automatically. Moreover, an innovative approach is introduced to predict the relevance of requests and Web services and eliminate the need for setting a threshold value of similarity. In order to evaluate UltiMatch-NL, the repository of OWLS-TC is used. The performance evaluation based on standard measures from the information retrieval field shows that semantic matching of OWL-S services can be significantly improved by incorporating designed matching filters. PMID:25157872

  2. Klimaatneutraal in de praktijk : ervaringen en resultaten van de deelnemers van BoerenKlimaat.nl

    NARCIS (Netherlands)

    Dubbeldam, R.; Wijnands, F.G.; Asperen, van P.; Monteny, A.

    2013-01-01

    De huidige landbouw draagt bij aan het broeikaseffect en daarmee aan de klimaatverandering. Tegelijk heeft de landbouw goede mogelijkheden om de broeikasgasemissies te verminderen. Zestien agrariërs laten in het project BoerenKlimaat.nl samen met Wageningen UR en het Louis Bolk Instituut zien hoe

  3. Mediterranean Style Diet and 12-Year Incidence of Cardiovascular Diseases: The Epic-NL Cohort Stusy

    NARCIS (Netherlands)

    Hoevenaar-Blom, M.P.; Nooyens, A.J.C.; Kromhout, D.; Spijkerman, A.M.W.; Beulens, W.J.; Schouw, van der Y.T.; Bueno-de-Mesquita4, B.; Verschuren, W.M.M.

    2012-01-01

    Background: A recent meta-analysis showed that a Mediterranean style diet may protect against cardiovascular diseases (CVD). Studies on disease-specific associations are limited. We evaluated the Mediterranean Diet Score (MDS) in relation to incidence of total and specific CVDs. Methods: The EPIC-NL

  4. Tekenradar.nl: een webplatform voor wetenschappelijk onderzoek naar tekenbeten en de ziekte van Lyme

    NARCIS (Netherlands)

    Wijngaard, van den C.C.; Vliet, van A.J.H.; Vrijmoeth, H.D.; Ursinus, J.; Harms, Margriet

    2016-01-01

    Tekenradar.nl is een webplatform voor onderzoek naar teken en tekenoverdraagbare aandoeningen zoals de ziekte van Lyme. Het RIVM en Wageningen University hebben de website in 2012 gezamenlijk opgericht. De website geeft informatie over tekenbeten en de ziekte van Lyme en een voorspelling van de

  5. Human Coronaviruses 229E and NL63: Close Yet Still So Far

    NARCIS (Netherlands)

    Dijkman, Ronald; van der Hoek, Lia

    2009-01-01

    HCoV-NL63 and HCoV-229E are two of the four human coronaviruses that circulate worldwide. These two viruses are unique in their relationship towards each other. Phylogenetically, the viruses are more closely related to each other than to any other human coronavirus, yet they only share 65% sequence

  6. Plaque assay for human coronavirus NL63 using human colon carcinoma cells

    Directory of Open Access Journals (Sweden)

    Drosten Christian

    2008-11-01

    Full Text Available Abstract Background Coronaviruses cause a broad range of diseases in animals and humans. Human coronavirus (hCoV NL63 is associated with up to 10% of common colds. Viral plaque assays enable the characterization of virus infectivity and allow for purifying virus stock solutions. They are essential for drug screening. Hitherto used cell cultures for hCoV-NL63 show low levels of virus replication and weak and diffuse cytopathogenic effects. It has not yet been possible to establish practicable plaque assays for this important human pathogen. Results 12 different cell cultures were tested for susceptibility to hCoV-NL63 infection. Human colon carcinoma cells (CaCo-2 replicated virus more than 100 fold more efficiently than commonly used African green monkey kidney cells (LLC-MK2. CaCo-2 cells showed cytopathogenic effects 4 days post infection. Avicel, agarose and carboxymethyl-cellulose overlays proved suitable for plaque assays. Best results were achieved with Avicel, which produced large and clear plaques from the 4th day of infection. The utility of plaque assays with agrose overlay was demonstrated for purifying virus, thereby increasing viral infectivity by 1 log 10 PFU/mL. Conclusion CaCo-2 cells support hCoV-NL63 better than LLC-MK2 cells and enable cytopathogenic plaque assays. Avicel overlay is favourable for plaque quantification, and agarose overlay is preferred for plaque purification. HCoV-NL63 virus stock of increased infectivity will be beneficial in antiviral screening, animal modelling of disease, and other experimental tasks.

  7. Correlation and relativistic effects for the 4f-nl and 5p-nl multipole transitions in Er-like tungsten

    International Nuclear Information System (INIS)

    Safronova, U. I.; Safronova, A. S.

    2011-01-01

    Wavelengths, transition rates, and line strengths are calculated for the multipole (E1, M1, E2, M2, E3, and M3) transitions between the excited [Cd]4f 13 5p 6 nl, [Cd]4f 14 5p 5 nl configurations and the ground [Cd]4f 14 5p 6 state in Er-like W 6+ ion ([Cd]=[Kr]4d 10 5s 2 ). In particular, the relativistic many-body perturbation theory (RMBPT), including the Breit interaction, is used to evaluate energies and transition rates for multipole transitions in this hole-particle system. This method is based on the relativistic many-body perturbation theory that agrees with multiconfiguration Dirac-Fock (MCDF) calculations in lowest order, and includes all second-order correlation corrections and corrections from negative-energy states. The calculations start from a [Cd]4f 14 5p 6 Dirac-Fock (DF) potential. First-order perturbation theory is used to obtain intermediate-coupling coefficients, and second-order RMBPT is used to determine the multipole matrix elements needed for calculations of other atomic properties such as line strengths and transition rates. In addition, core multipole polarizability is evaluated in random-phase and DF approximations. The comparison with available data is demonstrated.

  8. High USP6NL levels in breast cancer sustain chronic AKT phosphorylation and GLUT1 stability fueling aerobic glycolysis.

    Science.gov (United States)

    Avanzato, Daniele; Pupo, Emanuela; Ducano, Nadia; Isella, Claudio; Bertalot, Giovanni; Luise, Chiara; Pece, Salvatore; Bruna, Alejandra; Rueda, Oscar M; Caldas, Carlos; Di Fiore, Pier Paolo; Sapino, Anna; Lanzetti, Letizia

    2018-04-24

    USP6NL, also named RN-tre, is a GTPase activating protein (GAP) involved in control of endocytosis and signal transduction. Here we report that USP6NL is overexpressed in breast cancer (BC), mainly of the basal-like/integrative cluster 10 subtype. Increased USP6NL levels were accompanied by gene amplification and were associated with worse prognosis in the METABRIC dataset, retaining prognostic value in multivariable analysis. High levels of USP6NL in BC cells delayed endocytosis and degradation of the epidermal growth factor receptor (EGFR), causing chronic AKT activation. In turn, AKT stabilized the glucose transporter GLUT1 at the plasma membrane, increasing aerobic glycolysis. In agreement, elevated USP6NL sensitized BC cells to glucose deprivation, indicating that their glycolytic capacity relies on this protein. Depletion of USP6NL accelerated EGFR/AKT downregulation and GLUT1 degradation, impairing cell proliferation exclusively in BC cells that harbored increased levels of USP6NL. Overall, these findings argue that USP6NL overexpression generates a metabolic rewiring that is essential to foster the glycolytic demand of BC cells and promote their proliferation. Copyright ©2018, American Association for Cancer Research.

  9. Confirmatory Factor Analysis of the Dutch Version of the Wechsler Memory Scale-Fourth Edition (WMS-IV-NL)

    NARCIS (Netherlands)

    Bouman, Z.; Hendriks, M.P.; Kerkmeer, M.C.; Kessels, R.P.C.; Aldenkamp, A.P.

    2015-01-01

    The latent factor structure of the Dutch version of the Wechsler Memory Scale-Fourth Edition (WMS-IV-NL) was examined with a series of confirmatory factor analyses. As part of the Dutch standardization, 1,188 healthy participants completed the WMS-IV-NL. Four models were tested for the Adult Battery

  10. Hematological abnormalities and 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2011-01-01

    Full Text Available The 22q11.2 deletion syndrome (22q11DS is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.

  11. [Prevalence and clinical characteristics of coronavirus NL63 infection in children hospitalized for acute lower respiratory tract infections in Changsha].

    Science.gov (United States)

    Zhang, Fei; Zhang, Bing; Xie, Zhi-Ping; Gao, Han-Chun; Zhao, Xin; Zhong, Li-Li; Zhou, Qiong-Hua; Hou, Yun-De; Duan, Zhao-Jun

    2012-04-01

    The main objective of this study was to explore the prevalence and clinical characteristics of human coronavirus NL63 infection in hospitalized children with acute lower respiratory tract infection (ALRTI) in Changsha. Nasopharyngeal aspirates (NPA) samples were collected from 1185 hospitalized children with ALRTI at the People's Hospital of Hunan province, between September 2008 and October 2010. Reverse transcriptase polymerase chain reaction (RT-PCR) was employed to screen for coronavirus NL63, which is a 255 bp fragment of a part of N gene. All positive amplification products were confirmed by sequencing and compared with those in GenBank. The overall frequency of coronavirus NL63 infection was 0.8%, 6 (60%) out of the coronavirus NL63 positive patients were detected in summer, 2 in autumn, 1 in spring and winter, respectively. The patients were from 2 months to two and a half years old. The clinical diagnosis was bronchopneumonia (60%), bronchiolitis (30%), and acute laryngotracheal bronchitis (10%). Four of the 10 cases had critical illness, 4 cases had underlying diseases, and 7 cases had mixed infection with other viruses. The homogeneity of coronavirus NL63 with those published in the GenBank at nucleotide levels was 97%-100%. Coronavirus NL63 infection exists in hospitalized children with acute lower respiratory tract infection in Changsha. Coronavirus NL63 infections are common in children under 3 years of age. There is significant difference in the infection rate between the boys and the girls: the boys had higher rate than the girls. The peak of prevalence of the coronavirus NL63 was in summer. A single genetic lineage of coronavirus NL63 was revealed in human subjects in Changsha. Coronavirus NL63 may also be one of the lower respiratory pathogen in China.

  12. Automated Generation of OCL Constraints: NL based Approach vs Pattern Based Approach

    Directory of Open Access Journals (Sweden)

    IMRAN SARWAR BAJWA

    2017-04-01

    Full Text Available This paper presents an approach used for automated generations of software constraints. In this model, the SBVR (Semantics of Business Vocabulary and Rules based semi-formal representation is obtained from the syntactic and semantic analysis of a NL (Natural Language (such as English sentence. A SBVR representation is easy to translate to other formal languages as SBVR is based on higher-order logic like other formal languages such as OCL (Object Constraint Language. The proposed model endows with a systematic and powerful system of incorporating NL knowledge on the formal languages. A prototype is constructed in Java (an Eclipse plug-in as a proof of the concept. The performance was tested for a few sample texts taken from existing research thesis reports and books

  13. Human Coronaviruses 229E and NL63: Close Yet Still So Far

    Directory of Open Access Journals (Sweden)

    Ronald Dijkman

    2009-04-01

    Full Text Available HCoV-NL63 and HCoV-229E are two of the four human coronaviruses that circulate worldwide. These two viruses are unique in their relationship towards each other. Phylogenetically, the viruses are more closely related to each other than to any other human coronavirus, yet they only share 65% sequence identity. Moreover, the viruses use different receptors to enter their target cell. HCoV-NL63 is associated with croup in children, whereas all signs suggest that the virus probably causes the common cold in healthy adults. HCoV-229E is a proven common cold virus in healthy adults, so it is probable that both viruses induce comparable symptoms in adults, even though their mode of infection differs. Here, we present an overview of the current knowledge on both human coronaviruses, focusing on similarities and differences.

  14. How to Assist Formalization of NL Regulations: Lessons from Business Rules Acquisition Experiments

    OpenAIRE

    Nazarenko , Adeline

    2013-01-01

    International audience; Decision systems usually rely on a set of business rules that describe the expected behavior of a system or an organization and that determine the decisions to be taken in different situations. However, rule acquisition is often the bottleneck that hinders the development of decision systems. When these rules are based on regulations written in Natural Language (NL), one solution is to derive formal business rules from the source documents. This approach also allows ch...

  15. Fabrication of a cantilever-based microfluidic flow meter with nL min(-1) resolution

    DEFF Research Database (Denmark)

    Noeth, Nadine-Nicole; Keller, Stephan Sylvest; Boisen, Anja

    2011-01-01

    A microfluidic flow meter based on cantilever deflection is developed, showing a resolution down to 3 nL min(-1) for flows in the microliter range. The cantilevers are fabricated in SU-8 and have integrated holes with dimensions from 5 x 5 to20x 20 mu m(2). The holes make it possible to measure i......, hole-to-hole distance, amount of holes, etc) the sensitivity of the sensor can be changed....

  16. Reduction in open field activity in the absence of memory deficits in the AppNL-G-F knock-in mouse model of Alzheimer's disease.

    Science.gov (United States)

    Whyte, Lauren S; Hemsley, Kim M; Lau, Adeline A; Hassiotis, Sofia; Saito, Takashi; Saido, Takaomi C; Hopwood, John J; Sargeant, Timothy J

    2018-01-15

    The recent development of knock-in mouse models of Alzheimer's disease provides distinct advantages over traditional transgenic mouse models that rely on over-expression of amyloid precursor protein. Two such knock-in models that have recently been widely adopted by Alzheimer's researchers are the App NL-F and App NL-G-F mice. This study aimed to further characterise the behavioural phenotype and amyloid plaque distribution of App NL-G-F/NL-G-F (C57BL/6J background) mice at six-months of age. An attempt to replicate a previous study that observed deficits in working memory in the Y-maze, showed no difference between App NL-G-F/NL-G-F and wild-type mice. Further assessment of these mice using the novel object recognition test and Morris water maze also revealed no differences between App NL-G-F/NL-G-F and wild-type mice. Despite a lack of demonstrated cognitive deficits, we report a reduction in locomotor/exploratory activity in an open field. Histological examination of App NL-G-F/NL-G-F mice showed widespread distribution of amyloid plaques at this age. We conclude that whilst at six-months of age, memory deficits are not sufficiently robust to be replicated in varying environments, amyloid plaque burden is significant in App NL-G-F/NL-G-F knock-in brain. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Evaluating evapotranspiration for six sites in Benton, Spokane, and Yakima counties, Washington, May 1990 to September 1992

    Science.gov (United States)

    Tomlinson, S.A.

    1996-01-01

    This report evaluates evapotranspiration for six sites in Benton, Spokane, and Yakima Counties, Washington. Three sites were located on the Arid Lands Ecology Reserve in Benton County: one at a full-canopy grassland in Snively Basin (Snively Basin site), one at a sparse-canopy grassland adjacent to two weighing lysimeters (grass lysimeter site), and one at a sagebrush grassland adjacent to two weighing lysimeters (sage lysimeter site). Two sites were located on the Turnbull National Wildlife Refuge in Spokane County: one at a full-canopy grassland in a meadow (Turnbull meadow site), the other a full-canopy grassland near a marsh (Turnbull marsh site). The last site was located in a sagebrush grassland in the Black Rock Valley in Yakima County (Black Rock Valley site). The periods of study at the six sites varied, ranging from 5 months at the Black Rock Valley site to more than 2 years at the Snively Basin, grass lysimeter, and sage lysimeter sites. The periods of study were May 1990 to September 1992 for the Snively Basin, grass lysimeter, and sage lysimeter sites; May 1991 to September 1992 for the Turnbull meadow site; May 1991 to April 1992 for the Turnbull marsh site; and March to September 1992 for the Black Rock Valley site. Evapotranspiration and energy-budget fluxes were estimated for the Snively Basin site, the Turnbull meadow site, and the Black Rock Valley site using the Bowen-ratio and Penman-Monteith methods. Daily evapotranspiration for the Snively Basin site was also estimated using a deep-percolation model for the Columbia Basin. The Bowen-ratio method and weighing lysimeters were used at the grass and sage lysimeter sites. The Penman-Monteith method was used at the Turnbull marsh site. Daily evapotranspiration at the sites ranged from under 0.2 millimeter during very dry or cold periods to over 4\\x11millimeters after heavy rainfall or during periods of peak transpiration. At all sites, peak evapotranspiration occurred in spring, coinciding with

  18. Validation of the Dutch language version of the Safety Attitudes Questionnaire (SAQ-NL).

    Science.gov (United States)

    Haerkens, Marck Htm; van Leeuwen, Wouter; Sexton, J Bryan; Pickkers, Peter; van der Hoeven, Johannes G

    2016-08-15

    As the first objective of caring for patients is to do no harm, patient safety is a priority in delivering clinical care. An essential component of safe care in a clinical department is its safety climate. Safety climate correlates with safety-specific behaviour, injury rates, and accidents. Safety climate in healthcare can be assessed by the Safety Attitudes Questionnaire (SAQ), which provides insight by scoring six dimensions: Teamwork Climate, Job Satisfaction, Safety Climate, Stress Recognition, Working Conditions and Perceptions of Management. The objective of this study was to assess the psychometric properties of the Dutch language version of the SAQ in a variety of clinical departments in Dutch hospitals. The Dutch version (SAQ-NL) of the SAQ was back translated, and analyzed for semantic characteristics and content. From October 2010 to November 2015 SAQ-NL surveys were carried out in 17 departments in two university and seven large non-university teaching hospitals in the Netherlands, prior to a Crew Resource Management human factors intervention. Statistical analyses were used to examine response patterns, mean scores, correlations, internal consistency reliability and model fit. Cronbach's α's and inter-item correlations were calculated to examine internal consistency reliability. One thousand three hundred fourteen completed questionnaires were returned from 2113 administered to health care workers, resulting in a response rate of 62 %. Confirmatory Factor Analysis revealed the 6-factor structure fit the data adequately. Response patterns were similar for professional positions, departments, physicians and nurses, and university and non-university teaching hospitals. The SAQ-NL showed strong internal consistency (α = .87). Exploratory analysis revealed differences in scores on the SAQ dimensions when comparing different professional positions, when comparing physicians to nurses and when comparing university to non-university hospitals. The SAQ-NL

  19. CREATE-NL+: A robust control-oriented free boundary dynamic plasma equilibrium solver

    Energy Technology Data Exchange (ETDEWEB)

    Albanese, R. [Ass. EURATOM/ENEA/CREATE, Universita’ di Napoli “Federico II”, Naples (Italy); Ambrosino, R. [Ass. EURATOM/ENEA/CREATE, Universita’ di Napoli “Parthenope”, Naples (Italy); Mattei, M., E-mail: massimiliano.mattei@unina2.it [Ass. EURATOM/ENEA/CREATE, Seconda Universita’ di Napoli, Naples (Italy)

    2015-10-15

    CREATE-NL+ is a FEM (Finite Elements Method) solver of the free boundary dynamic plasma equilibrium problem, i.e. the MHD (Magneto Hydro Dynamics) time evolution of 2D axisymmetric plasmas in toroidal nuclear fusion devices, including eddy currents in the passive structures, and feedback control laws for current, position and shape control. This is an improved version of the CREATE-NL code developed in 2002 which was validated on JET and used for the design of the XSC (eXtreme Shape Controller), and for simulation studies on many existing and future tokamaks. A significant improvement was the use of a robust numerical scheme for the calculation of the Jacobian matrix within the Newton based scheme for the solution of the FEM nonlinear algebraic equations. The improved capability of interfacing with other codes, and a general decrease of the computational burden for the simulation of long pulses with small time steps makes this code a flexible tool for the design and testing of magnetic control in a tokamak.

  20. CREATE-NL+: A robust control-oriented free boundary dynamic plasma equilibrium solver

    International Nuclear Information System (INIS)

    Albanese, R.; Ambrosino, R.; Mattei, M.

    2015-01-01

    CREATE-NL+ is a FEM (Finite Elements Method) solver of the free boundary dynamic plasma equilibrium problem, i.e. the MHD (Magneto Hydro Dynamics) time evolution of 2D axisymmetric plasmas in toroidal nuclear fusion devices, including eddy currents in the passive structures, and feedback control laws for current, position and shape control. This is an improved version of the CREATE-NL code developed in 2002 which was validated on JET and used for the design of the XSC (eXtreme Shape Controller), and for simulation studies on many existing and future tokamaks. A significant improvement was the use of a robust numerical scheme for the calculation of the Jacobian matrix within the Newton based scheme for the solution of the FEM nonlinear algebraic equations. The improved capability of interfacing with other codes, and a general decrease of the computational burden for the simulation of long pulses with small time steps makes this code a flexible tool for the design and testing of magnetic control in a tokamak.

  1. Outcomes of senior reach gatekeeper referrals: comparison of the Spokane gatekeeper program, Colorado Senior Reach, and Mid-Kansas Senior Outreach.

    Science.gov (United States)

    Bartsch, David A; Rodgers, Vicki K; Strong, Don

    2013-01-01

    Outcomes of older adults referred for care management and mental health services through the senior reach gatekeeper model of case finding were examined in this study and compared with the Spokane gatekeeper model Colorado Senior Reach and the Mid-Kansas Senior Outreach (MKSO) programs are the two Senior Reach Gatekeeper programs modeled after the Spokane program, employing the same community education and gatekeeper model and with mental health treatment for elderly adults in need of support. The three mature programs were compared on seniors served isolation, and depression ratings. Nontraditional community gatekeepers were trained and referred seniors in need. Findings indicate that individuals served by the two Senior Reach Gatekeeper programs demonstrated significant improvements. Isolation indicators such as social isolation decreased and depression symptoms and suicide ideation also decreased. These findings for two Senior Reach Gatekeeper programs demonstrate that the gatekeeper approach to training community partners worked in referring at-risk seniors in need in meeting their needs, and in having a positive impact on their lives.

  2. Children with Chromosome 22q11.2 Deletion Syndrome Exhibit Impaired Spatial Working Memory

    Science.gov (United States)

    Wong, Ling M.; Riggins, Tracy; Harvey, Danielle; Cabaral, Margarita; Simon, Tony J.

    2014-01-01

    Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) have been shown to have impairments in processing spatiotemporal information. The authors examined whether children with 22q11.2DS exhibit impairments in spatial working memory performance due to these weaknesses, even when controlling for maintenance of attention. Children with…

  3. Investigations of potential microbial methanogenic and carbon monoxide utilization pathways in ultra-basic reducing springs associated with present-day continental serpentinization: the Tablelands, NL, CAN

    Directory of Open Access Journals (Sweden)

    Penny Lea Morrill

    2014-11-01

    Full Text Available Ultra-basic reducing springs at continental sites of serpentinization act as portals into the biogeochemistry of a subsurface environment with H2 and CH4 present. Very little, however, is known about the carbon substrate utilization, energy sources, and metabolic pathways of the microorganisms that live in this ultra-basic environment. The potential for microbial methanogenesis with bicarbonate, formate, acetate, and propionate precursors and carbon monoxide (CO utilization pathways were tested in laboratory experiments by adding substrates to water and sediment from the Tablelands, NL, CAD, a site of present-day continental serpentinization. Microbial methanogenesis was not observed after bicarbonate, formate, acetate, or propionate addition. CO was consumed in the live experiments but not in the killed controls and the residual CO in the live experiments became enriched in 13 C. The average isotopic enrichment factor resulting from this microbial utilization of CO was estimated to be 11.2 ± 0.2‰. Phospholipid fatty acid concentrations and δ13C values suggest limited incorporation of carbon from CO into microbial lipids. This indicates that in our experiments, CO was used primarily as an energy source, but not for biomass growth. Environmental DNA sequencing of spring fluids collected at the same time as the addition experiments yielded a large proportion of Hydrogenophaga-related sequences, which is consistent with previous metagenomic data indicating the potential for these taxa to utilize CO.

  4. Investigations of potential microbial methanogenic and carbon monoxide utilization pathways in ultra-basic reducing springs associated with present-day continental serpentinization: the Tablelands, NL, CAN.

    Science.gov (United States)

    Morrill, Penny L; Brazelton, William J; Kohl, Lukas; Rietze, Amanda; Miles, Sarah M; Kavanagh, Heidi; Schrenk, Matthew O; Ziegler, Susan E; Lang, Susan Q

    2014-01-01

    Ultra-basic reducing springs at continental sites of serpentinization act as portals into the biogeochemistry of a subsurface environment with H2 and CH4 present. Very little, however, is known about the carbon substrate utilization, energy sources, and metabolic pathways of the microorganisms that live in this ultra-basic environment. The potential for microbial methanogenesis with bicarbonate, formate, acetate, and propionate precursors and carbon monoxide (CO) utilization pathways were tested in laboratory experiments by adding substrates to water and sediment from the Tablelands, NL, CAD, a site of present-day continental serpentinization. Microbial methanogenesis was not observed after bicarbonate, formate, acetate, or propionate addition. CO was consumed in the live experiments but not in the killed controls and the residual CO in the live experiments became enriched in (13)C. The average isotopic enrichment factor resulting from this microbial utilization of CO was estimated to be 11.2 ± 0.2‰. Phospholipid fatty acid concentrations and δ(13)C values suggest limited incorporation of carbon from CO into microbial lipids. This indicates that in our experiments, CO was used primarily as an energy source, but not for biomass growth. Environmental DNA sequencing of spring fluids collected at the same time as the addition experiments yielded a large proportion of Hydrogenophaga-related sequences, which is consistent with previous metagenomic data indicating the potential for these taxa to utilize CO.

  5. Evidence supporting a zoonotic origin of human coronavirus strain NL63.

    Science.gov (United States)

    Huynh, Jeremy; Li, Shimena; Yount, Boyd; Smith, Alexander; Sturges, Leslie; Olsen, John C; Nagel, Juliet; Johnson, Joshua B; Agnihothram, Sudhakar; Gates, J Edward; Frieman, Matthew B; Baric, Ralph S; Donaldson, Eric F

    2012-12-01

    The relationship between bats and coronaviruses (CoVs) has received considerable attention since the severe acute respiratory syndrome (SARS)-like CoV was identified in the Chinese horseshoe bat (Rhinolophidae) in 2005. Since then, several bats throughout the world have been shown to shed CoV sequences, and presumably CoVs, in the feces; however, no bat CoVs have been isolated from nature. Moreover, there are very few bat cell lines or reagents available for investigating CoV replication in bat cells or for isolating bat CoVs adapted to specific bat species. Here, we show by molecular clock analysis that alphacoronavirus (α-CoV) sequences derived from the North American tricolored bat (Perimyotis subflavus) are predicted to share common ancestry with human CoV (HCoV)-NL63, with the most recent common ancestor between these viruses occurring approximately 563 to 822 years ago. Further, we developed immortalized bat cell lines from the lungs of this bat species to determine if these cells were capable of supporting infection with HCoVs. While SARS-CoV, mouse-adapted SARS-CoV (MA15), and chimeric SARS-CoVs bearing the spike genes of early human strains replicated inefficiently, HCoV-NL63 replicated for multiple passages in the immortalized lung cells from this bat species. These observations support the hypothesis that human CoVs are capable of establishing zoonotic-reverse zoonotic transmission cycles that may allow some CoVs to readily circulate and exchange genetic material between strains found in bats and other mammals, including humans.

  6. Childhood cognitive development in 22q11.2 deletion syndrome: case-control study.

    Science.gov (United States)

    Chawner, Samuel J R A; Doherty, Joanne L; Moss, Hayley; Niarchou, Maria; Walters, James T R; Owen, Michael J; van den Bree, Marianne B M

    2017-10-01

    Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( n = 75, mean age time 1 ( T 1 ) 9.9, time 2 ( T 2 ) 12.5) and control siblings ( n = 33, mean age T 1 10.6, T 2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia. © The Royal College of Psychiatrists 2017.

  7. Sources, transport, and trends for selected trace metals and nutrients in the Coeur d'Alene and Spokane River Basins, Idaho, 1990-2013

    Science.gov (United States)

    Clark, Gregory M.; Mebane, Christopher A.

    2014-01-01

    Data collected at 18 streamflow-gaging and water-quality sampling sites in the Coeur d’Alene and Spokane River Basins of northern Idaho were used to estimate mean streamflow‑weighted concentrations and annual loads of total and dissolved cadmium, lead, and zinc, and total phosphorus (TP) and nitrogen (TN) for water years (WYs) 2009–13. Chronic Ambient Water Quality Criteria (AWQC) and AWQC ratios also were calculated to evaluate Idaho aquatic life criteria for chronic exposure to cadmium and zinc in streams. At four sites with a longer period of record, a Seasonal Kendall trend test was used to assess historical trends in the concentrations of total cadmium, lead, and zinc, and chronic AWQC ratios for cadmium and zinc during WYs 1990–2013.

  8. Design of the NL-ENIGMA study: Exploring the effect of Souvenaid on cerebral glucose metabolism in early Alzheimer's disease.

    Science.gov (United States)

    Scheltens, Nienke M E; Kuyper, Ingrid S; Boellaard, Ronald; Barkhof, Frederik; Teunissen, Charlotte E; Broersen, Laus M; Lansbergen, Marieke M; van der Flier, Wiesje M; van Berckel, Bart N M; Scheltens, Philip

    2016-11-01

    Alzheimer's disease is associated with early synaptic loss. Specific nutrients are known to be rate limiting for synapse formation. Studies have shown that administering specific nutrients may improve memory function, possibly by increasing synapse formation. This Dutch study explores the Effect of a specific Nutritional Intervention on cerebral Glucose Metabolism in early Alzheimer's disease (NL-ENIGMA, Dutch Trial Register NTR4718, http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=4718). The NL-ENIGMA study is designed to test whether the specific multinutrient combination Fortasyn Connect present in the medical food Souvenaid influences cerebral glucose metabolism as a marker for improved synapse function. This study is a double-blind, randomized controlled parallel-group single-center trial. Forty drug-naive patients with mild cognitive impairment or mild dementia with evidence of amyloid deposition are 1:1 randomized to receive either the multinutrient combination or placebo once daily. Main exploratory outcome parameters include absolute quantitative positron emission tomography with 18 F-fluorodeoxyglucose (including arterial sampling) and standard uptake value ratios normalized for the cerebellum or pons after 24 weeks. We expect the NL-ENIGMA study to provide further insight in the potential of this multinutrient combination to improve synapse function.

  9. Adaptation of the landscape for biodiversity to climate change : terrestrial case studies Limburg (NL), Kent and Hampshire (UK)

    NARCIS (Netherlands)

    Rooij, van S.A.M.; Baveco, J.M.; Bugter, R.J.F.; Eupen, van M.; Opdam, P.F.M.; Steingröver, E.G.; Taylor, S.; Steenwijk, van H.

    2007-01-01

    This study is part of the BRANCH project, aimed at assessing the impact of climate change on species and habitats and formulating strategies for adaptation. It focuses on the local scale in three terrestrial case studies, Limburg (NL) and in Kent and Hampshire (UK). We developed and tested: (a) a

  10. Temporal stability of the Dutch version of the Wechsler Memory Scale - Fourth Edition (WMS-IV-NL)

    NARCIS (Netherlands)

    Bouman, Z.; Hendriks, M.P.H.; Aldenkamp, A.P.; Kessels, R.P.C.

    2015-01-01

    Objective: The Wechsler Memory Scale - Fourth Edition (WMS-IV) is one of the most widely used memory batteries. We examined the test–retest reliability, practice effects, and standardized regression-based (SRB) change norms for the Dutch version of the WMS-IV (WMS-IV-NL) after both short and long

  11. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

    Science.gov (United States)

    Nakamine, Alisa; Ouchanov, Leonid; Jiménez, Patricia; Manghi, Elina R; Esquivel, Marcela; Monge, Silvia; Fallas, Marietha; Burton, Barbara K; Szomju, Barbara; Elsea, Sarah H; Marshall, Christian R; Scherer, Stephen W; McInnes, L Alison

    2008-03-01

    Duplications of 17(p11.2p11.2) have been associated with various behavioral manifestations including attention deficits, obsessive-compulsive symptoms, autistic traits, and language delay. We are conducting a genetic study of autism and are screening all cases for submicroscopic chromosomal abnormalities, in addition to standard karyotyping, and fragile X testing. Using array-based comparative genomic hybridization analysis of data from the Affymetrix GeneChip(R) Human Mapping Array set, we detected a duplication of approximately 3.3 Mb on chromosome 17p11.2 in a male child with autism and severe expressive language delay. The duplication was confirmed by measuring the copy number of genomic DNA using quantitative polymerase chain reaction. Gene expression analyses revealed increased expression of three candidate genes for the Smith-Magenis neurobehavioral phenotype, RAI1, DRG2, and RASD1, in transformed lymphocytes from Case 81A, suggesting gene dosage effects. Our results add to a growing body of evidence suggesting that duplications of 17(p11.2p11.2) result in language delay as well as autism and related phenotypes. As Smith-Magenis syndrome is also associated with language delay, a gene involved in acquisition of language may lie within this interval. Whether a parent of origin effect, gender of the case, the presence of allelic variation, or changes in expression of genes outside the breakpoints influence the resultant phenotype remains to be determined. (c) 2007 Wiley-Liss, Inc.

  12. Association between lifestyle factors and quality-adjusted life years in the EPIC-NL cohort.

    Science.gov (United States)

    Fransen, Heidi P; May, Anne M; Beulens, Joline W J; Struijk, Ellen A; de Wit, G Ardine; Boer, Jolanda M A; Onland-Moret, N Charlotte; Hoekstra, Jeljer; van der Schouw, Yvonne T; Bueno-de-Mesquita, H Bas; Peeters, Petra H M

    2014-01-01

    The aim of our study was to relate four modifiable lifestyle factors (smoking status, body mass index, physical activity and diet) to health expectancy, using quality-adjusted life years (QALYs) in a prospective cohort study. Data of the prospective EPIC-NL study were used, including 33,066 healthy men and women aged 20-70 years at baseline (1993-7), followed until 31-12-2007 for occurrence of disease and death. Smoking status, body mass index, physical activity and adherence to a Mediterranean-style diet (excluding alcohol) were investigated separately and combined into a healthy lifestyle score, ranging from 0 to 4. QALYs were used as summary measure of healthy life expectancy, combining a person's life expectancy with a weight for quality of life when having a chronic disease. For lifestyle factors analyzed separately the number of years living longer in good health varied from 0.12 year to 0.84 year, after adjusting for covariates. A combination of the four lifestyle factors was positively associated with higher QALYs (P-trend healthy lifestyle score of 4 compared to a score of 0 was associated with almost a 2 years longer life in good health (1.75 QALYs [95% CI 1.37, 2.14]).

  13. Distribution and ecotoxicity of chlorotriazines in the Scheldt Estuary (B-Nl)

    International Nuclear Information System (INIS)

    Noppe, Herlinde; Ghekiere, An; Verslycke, Tim; Wulf, Eric de; Verheyden, Karolien; Monteyne, Els; Polfliet, Karen; Caeter, Peter van; Janssen, Colin R.; Brabander, Hubert F. de

    2007-01-01

    As part of the Endis-Risks project, the current study describes the occurrence of the chlorotriazine pesticides atrazine, simazine and terbutylazine in water, sediment and suspended matter in the Scheldt estuary (B-Nl) from 2002 to 2005 (3 samplings a year, 8 sampling points). Atrazine was found at the highest concentrations, varying from 10 to 736 ng/l in water and from 5 up to 10 ng/g in suspended matter. Simazine and terbutylazine were detected at lower concentrations. Traces of the targeted pesticides were also detected in sediments, but these were below the limit of quantification. As part of an ecotoxicological assessment, we studied the potential effect of atrazine on molting of Neomysis integer (Crustacea:Mysidacea), a resident invertebrate of the Scheldt Estuary and a proposed test organism for the evaluation of endocrine disruption. Following chronic exposure (∼3 weeks), atrazine did not significantly affect mysid molting at environmentally relevant concentrations (up to 1 μg/l). - The water of the Scheldt estuary and its associated suspended solids are contaminated with chlorotriazines at concentrations that do not affect mysid molting

  14. [Delivery after a previous cesarean in the Gyneco-Obsteric Hospital Garza Garcia, N.L].

    Science.gov (United States)

    de la Garza Quintanilla, C; Celaya Juárez, J A; Hernández Escobar, C

    1997-04-01

    One hundred and four patients who delivered after a previous cesarean section, at Hospital de Ginecoobstetricia de Garza García, N.L., from February 1, 1994 to January 31, 1995, were reviewed. The objective for this study was to know materno-fetal morbi-mortality at our hospital. Age, parity weeks of gestation, cause for previous section, delivery culmination, weight and Apgar of products, as well as, materno-fetal morbi-mortality, were analyzed. Average age group was 21 to 30 years with 68.5%. As to parity nulliparae predominated with 48.1%. As to weeks of gestation, the most frequent was 37 to 40 weeks, 85.5%. Previous section indication was: 1. Pelvic presentation, 2. Fetal stress, 3. Cefalo-pelvic disproportion, 4. Premature rupture of membranes, 5. Toxemia. As to deliveries outcome, there was dystocia in 86.5%, by profilactic low forceps application in 81.7%; and mid low in 4.8%. Eutocic delivery, 13.5%. Product weight was 3,000 to 3,500 g, with 51%. Apgar in 94 products was 8 and 9 at one minute. Maternal morbidity was 15.3% being most frequent vaginal tears. There was one case of uterine atonia, and one case of dura mater adverted puncture. There were no uterine dehiscence nor rupture. Perinatal morbidity was 5.6%. There was no perinatal death.

  15. Temporal Stability of the Dutch Version of the Wechsler Memory Scale-Fourth Edition (WMS-IV-NL).

    Science.gov (United States)

    Bouman, Zita; Hendriks, Marc P H; Aldenkamp, Albert P; Kessels, Roy P C

    2015-01-01

    The Wechsler Memory Scale-Fourth Edition (WMS-IV) is one of the most widely used memory batteries. We examined the test-retest reliability, practice effects, and standardized regression-based (SRB) change norms for the Dutch version of the WMS-IV (WMS-IV-NL) after both short and long retest intervals. The WMS-IV-NL was administered twice after either a short (M = 8.48 weeks, SD = 3.40 weeks, range = 3-16) or a long (M = 17.87 months, SD = 3.48, range = 12-24) retest interval in a sample of 234 healthy participants (M = 59.55 years, range = 16-90; 118 completed the Adult Battery; and 116 completed the Older Adult Battery). The test-retest reliability estimates varied across indexes. They were adequate to good after a short retest interval (ranging from .74 to .86), with the exception of the Visual Working Memory Index (r = .59), yet generally lower after a long retest interval (ranging from .56 to .77). Practice effects were only observed after a short retest interval (overall group mean gains up to 11 points), whereas no significant change in performance was found after a long retest interval. Furthermore, practice effect-adjusted SRB change norms were calculated for all WMS-IV-NL index scores. Overall, this study shows that the test-retest reliability of the WMS-IV-NL varied across indexes. Practice effects were observed after a short retest interval, but no evidence was found for practice effects after a long retest interval from one to two years. Finally, the SRB change norms were provided for the WMS-IV-NL.

  16. 37 CFR 11.2 - Director of the Office of Enrollment and Discipline.

    Science.gov (United States)

    2010-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2010-07-01 2010-07-01 false Director of the Office of Enrollment and Discipline. 11.2 Section 11.2 Patents, Trademarks, and Copyrights UNITED STATES PATENT AND TRADEMARK OFFICE, DEPARTMENT OF COMMERCE REPRESENTATION OF OTHERS BEFORE THE UNITED STATES PATENT AND TRADEMARK OFFICE General Provisions General...

  17. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

    NARCIS (Netherlands)

    Demaerel, Wolfram; Hestand, Matthew S.; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A.; McDonald-Mcginn, Donna M.; Zackai, Elaine; Emanuel, Beverly S.; Morrow, Bernice E.; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R.; Antshel, Kevin M.; Arango, Celso; Armando, Marco; Bassett, Anne S.; Bearden, Carrie E.; Boot, Erik; Bravo-Sanchez, Marta; Breetvelt, Elemi; Busa, Tiffany; Butcher, Nancy J.; Campbell, Linda E.; Carmel, Miri; Chow, Eva W C; Crowley, T. Blaine; Cubells, Joseph; Cutler, David; Demaerel, Wolfram; Digilio, Maria Cristina; Duijff, Sasja; Eliez, Stephan; Emanuel, Beverly S.; Epstein, Michael P.; Evers, Rens; Fernandez Garcia-Moya, Luis; Fiksinski, Ania; Fraguas, David; Fremont, Wanda; Fritsch, Rosemarie; Garcia-Minaur, Sixto; Golden, Aaron; Gothelf, Doron; Guo, Tingwei; Gur, Ruben C.; Gur, Raquel E.; Heine-Suner, Damian; Hestand, Matthew; Hooper, Stephen R.; Kates, Wendy R.; Kushan, Leila; Laorden-Nieto, Alejandra; Maeder, Johanna; Marino, Bruno; Marshall, Christian R.; McCabe, Kathryn; McDonald-Mcginn, Donna M.; Michaelovosky, Elena; Morrow, Bernice E.; Moss, Edward; Mulle, Jennifer; Murphy, Declan; Murphy, Kieran C.; Murphy, Clodagh M.; Niarchou, Maria; Ornstein, Claudia; Owen, Michael J; Philip, Nicole; Repetto, Gabriela M.; Schneider, Maude; Shashi, Vandana; Simon, Tony J.; Swillen, Ann; Tassone, Flora; Unolt, Marta; Van Amelsvoort, Therese; van den Bree, Marianne B M; Van Duin, Esther; Vergaelen, Elfi; Vermeesch, Joris R.; Vicari, Stefano; Vingerhoets, Claudia; Vorstman, Jacob; Warren, Steve; Weinberger, Ronnie; Weisman, Omri; Weizman, Abraham; Zackai, Elaine; Zhang, Zhengdong; Zwick, Michael

    2017-01-01

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have

  18. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  19. Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

    Science.gov (United States)

    Angkustsiri, Kathleen; Goodlin-Jones, Beth; Deprey, Lesley; Brahmbhatt, Khyati; Harris, Susan; Simon, Tony J.

    2014-01-01

    High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation…

  20. Implementation of a seawater cooling system in Eemshaven power plant (NL). A challenge of constructional and hydrological engineering; Umsetzung einer Meerwasserkuehlung beim Kraftwerk Eemshaven (NL). Eine bautechnische Herausforderung im Bereich Tief- und Wasserbau

    Energy Technology Data Exchange (ETDEWEB)

    Ulke, Bernd [RWE Technology GmbH, Eemshaven (Netherlands). Bauleitung STKW; Boerg, Bernd [Tiefbau GmbH Unterweser (TAGU), Oldenburg (Germany)

    2011-04-15

    RWE Eemshaven Holding B.V. is currently constructing a coal power plant with seawater cooling at Eemshaven (NL). The main coolant line will go under the dam and necessitates construction of a cooling water outlet structure, which is described in the article. The work done until December 2009, including construction of the first underwater concrete floor, was described in an earlier article (Bautechnik 87 (2010), pp. 294-297). (orig.)

  1. Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

    2017-05-18

    22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

  2. Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Opal Ousley

    2017-05-01

    Full Text Available 22q11.2 deletion syndrome (22q11.2DS is a genomic disorder reported to associate with autism spectrum disorders (ASDs in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA, which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R, the Autism Diagnostic Observational Schedule (ADOS, and a clinician’s best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56 with 22q11.2DS, who were ascertained irrespective of parents’ behavioral or developmental concerns, and found that 17.9% (n = 10 of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

  3. Psychopathology and cognition in children with 22q11.2 deletion syndrome

    Science.gov (United States)

    Niarchou, Maria; Zammit, Stanley; van Goozen, Stephanie H. M.; Thapar, Anita; Tierling, Hayley M.; Owen, Michael J.; van den Bree, Marianne B. M.

    2014-01-01

    Background Children with 22q11.2 deletion syndrome (22q11.2DS) have been reported to have high rates of cognitive and psychiatric problems. Aims To establish the nature and prevalence of psychiatric disorder and neurocognitive impairment in children with 22q11.2DS and test whether risk of psychopathology is mediated by the children’s intellectual impairment. Method Neurocognition and psychopathology were assessed in 80 children with 22q11.2DS (mean age 10.2 years, s.d. = 2.1) and 39 sibling controls (mean age 10.9 years, s.d. = 2.0). Results More than half (54%) of children with 22q11.2DS met diagnostic criteria for one or more DSM-IV-TR psychiatric disorder. These children had lower IQ (mean 76.8, s.d. = 13.0) than controls (mean 108.6, s.d. = 15.2) (Ppsychopathology was not mediated by intellectual impairment. Conclusions 22q11.2DS is not related to a specific psychiatric phenotype in children. Moreover, the deletion has largely independent effects on IQ and risk of psychopathology, indicating that psychopathology in 22q11.2DS is not a non-specific consequence of generalised cognitive impairment. PMID:24115343

  4. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Niarchou, Maria; Moore, Tyler M; Tang, Sunny X; Calkins, Monica E; McDonald-McGuinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

    2017-09-01

    22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings. This is the first study to examine the dimensional structure of a wide spectrum of psychopathology in the context of a homogeneous genetic etiology like 22q11.2DS. We evaluated 331 individuals with 22q11.2DS, mean age (SD) = 16.9(8.7); 51% males, who underwent prospective comprehensive phenotyping. We sought to replicate previous findings by examining a bi-factor model that derives a general factor of psychopathology in addition to more specific dimensions of psychopathology (i.e., internalizing, externalizing and thought disorder). Psychopathology in 22q11.2DS was divided into one 'general psychopathology' factor and four specific dimensions (i.e., 'anxiety', 'mood', 'ADHD' and 'psychosis'). The 'psychosis' symptoms loaded strongly on the 'general psychopathology' factor. The similarity of the symptom structure of psychopathology between 22q11.2DS and community and clinical populations without the deletion indicate that 22q11.2DS can provide a model to explore alternative approaches to our current nosology. Our findings add to a growing literature indicating the need to reorganize current diagnostic classification systems. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Implications for Primordial Non-Gaussianity ($f_{NL}$) from weak lensing masses of high-z galaxy clusters

    CERN Document Server

    Jimenez, Raul

    2009-01-01

    The recent weak lensing measurement of the dark matter mass of the high-redshift galaxy cluster XMMUJ2235.3-2557 of (8.5 +- 1.7) x 10^{14} Msun at z=1.4, indicates that, if the cluster is assumed to be the result of the collapse of dark matter in a primordial gaussian field in the standard LCDM model, then its abundance should be 3-10 if the non-Gaussianity parameter f^local_NL is in the range 150-200. This value is comparable to the limit for f_NL obtained by current constraints from the CMB. We conclude that mass determination of high-redshift, massive clusters can offer a complementary probe of primordial non-gaussianity.

  6. Efficient non-sterilized fermentation of biomass-derived xylose to lactic acid by a thermotolerant Bacillus coagulans NL01.

    Science.gov (United States)

    Ouyang, Jia; Cai, Cong; Chen, Hai; Jiang, Ting; Zheng, Zhaojuan

    2012-12-01

    Xylose is the major pentose and the second most abundant sugar in lignocellulosic feedstock. Its efficient utilization is regarded as a technical barrier to the commercial production of bulk chemicals from lignocellulosic biomass. This work aimed at evaluating the lactic acid production from the biomass-derived xylose using non-sterilized fermentation by Bacillus coagulans NL01. A maximum lactic acid concentration of about 75 g/L was achieved from xylose of 100 g/L after 72 h batch fermentation. Acetic acid and levulinic acid were identified as important inhibitors in xylose fermentation, which markedly reduced lactic acid productivity at 15 and 1.0 g/L, respectively. But low concentrations of formic acid (coagulans NL01, the same preference for glucose, xylose, and arabinose was observed and18.2 g/L lactic acid was obtained after 48 h fermentation. These results proved that B. coagulans NL01 was potentially well-suited for producing lactic acid from underutilized xylose-rich prehydrolysates.

  7. Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Van Eynde, Charlotte; Swillen, Ann; Lambeens, Elien; Verhaert, Nicolas; Desloovere, Christian; Luts, Heleen; Vander Poorten, Vincent; Devriendt, Koenraad; Hens, Greet

    2016-01-01

    Purpose: The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome. Method: Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6-36 years). Besides air and bone conduction thresholds in the frequency range between 0.125…

  8. The Development of Cognitive Control in Children with Chromosome 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Heather M Shapiro

    2014-06-01

    Full Text Available Chromosome 22q11.2 Deletion Syndrome (22q11.2DS is caused by the most common human microdeletion, and it is associated with cognitive impairments across many domains. While impairments in cognitive control have been described in children with 22q11.2DS, the nature and development of these impairments are not clear. Children with 22q11.2DS and typically developing children (TD were tested on four well-validated tasks aimed at measuring specific foundational components of cognitive control: response inhibition, cognitive flexibility, and working memory. Molecular assays were also conducted in order to examine genotype of catechol-O-methyltransferase (COMT, a gene located within the deleted region in 22q11.2DS and hypothesized to play a role in cognitive control. Mixed model regression analyses were used to examine group differences, as well as age-related effects on cognitive control component processes in a cross-sectional analysis. Regression models with COMT genotype were also conducted in order to examine potential effects of the different variants of the gene. Response inhibition, cognitive flexibility, and working memory were impaired in children with 22q11.2DS relative to TD children, even after accounting for global intellectual functioning (as measured by full-scale IQ. When compared with TD individuals, children with 22q11.2DS demonstrated atypical age-related patterns of response inhibition and cognitive flexibility. Both groups demonstrated typical age-related associations with working memory. The results of this cross-sectional analysis suggest a specific aberration in the development of systems mediating response inhibition in a sub-set of children with 22q11.2DS. It will be important to follow up with longitudinal analyses to directly examine these developmental trajectories, and correlate neurocognitive variables with clinical and adaptive outcome measures.

  9. [22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].

    Science.gov (United States)

    Huertas-Rodríguez, Cindy Katherin; Payán-Gómez, César; Forero-Castro, Ruth Maribel

    2015-01-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2DS syndrome and its association with schizophrenia. The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. It is important in clinical practice to remember that people suffering the 22q11.2DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  10. Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Larsen, Kit Melissa; Mørup, Morten; Birknow, Michelle Rosgaard; Fischer, Elvira; Hulme, Oliver; Vangkilde, Anders; Schmock, Henriette; Baaré, William Frans Christiaan; Didriksen, Michael; Olsen, Line; Werge, Thomas; Siebner, Hartwig R; Garrido, Marta I

    2018-01-30

    22q11.2 deletion syndrome (22q11.2DS) is one of the most common copy number variants and confers a markedly increased risk for schizophrenia. As such, 22q11.2DS is a homogeneous genetic liability model which enables studies to delineate functional abnormalities that may precede disease onset. Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that top-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia relative to healthy controls in MMN tasks. In the search for early risk-markers for schizophrenia we investigated the neural basis of change detection in a group with 22q11.2DS. We recorded high-density EEG from 19 young non-psychotic 22q11.2 deletion carriers, as well as from 27 healthy non-carriers with comparable age distribution and sex ratio, while they listened to a sequence of sounds arranged in a roving oddball paradigm. Despite finding no significant reduction in the MMN responses, whole-scalp spatiotemporal analysis of responses to the tones revealed a greater fronto-temporal N1 component in the 22q11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top-down, connection from the right inferior frontal gyrus to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison. We discuss these findings in terms of reduced adaptation and a general increased sensitivity to tones in 22q11.2DS. Copyright © 2018. Published by Elsevier B.V.

  11. A novel pancoronavirus RT-PCR assay: frequent detection of human coronavirus NL63 in children hospitalized with respiratory tract infections in Belgium

    Directory of Open Access Journals (Sweden)

    Berkhout Ben

    2005-02-01

    Full Text Available Abstract Background Four human coronaviruses are currently known to infect the respiratory tract: human coronaviruses OC43 (HCoV-OC43 and 229E (HCoV-229E, SARS associated coronavirus (SARS-CoV and the recently identified human coronavirus NL63 (HCoV-NL63. In this study we explored the incidence of HCoV-NL63 infection in children diagnosed with respiratory tract infections in Belgium. Methods Samples from children hospitalized with respiratory diseases during the winter seasons of 2003 and 2004 were evaluated for the presence of HCoV-NL63 using a optimized pancoronavirus RT-PCR assay. Results Seven HCoV-NL63 positive samples were identified, six were collected during January/February 2003 and one at the end of February 2004. Conclusions Our results support the notation that HCoV-NL63 can cause serious respiratory symptoms in children. Sequence analysis of the S gene showed that our isolates could be classified into two subtypes corresponding to the two prototype HCoV-NL63 sequences isolated in The Netherlands in 1988 and 2003, indicating that these two subtypes may currently be cocirculating.

  12. Referential communication abilities in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Van Den Heuvel, Ellen; ReuterskiöLd, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-10-01

    This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

  13. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

    Science.gov (United States)

    Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

    2017-10-05

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

  14. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

    Directory of Open Access Journals (Sweden)

    Angelika J. Dawson

    2015-01-01

    Full Text Available The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS and Angelman (AS syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allows for diagnosis of PWS or AS based on methylation status using methylation sensitive (MS multiplex ligation dependent probe amplification (MLPA. Maternally derived microduplications at 15q11.2-q13 have been associated with autism and other neuropsychiatric disorders. Multiple methods have been used to determine the parent-of-origin for 15q11.2-q13 microdeletions and microduplications. In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a de novo ~5 Mb duplication within 15q11.2 by oligonucleotide genomic array. In order to determine the significance of this microduplication to the clinical phenotype, the parent-of-origin needed to be identified. The PWS/AS MS-MLPA assay is generally used to distinguish between deletion and uniparental disomy (UPD of 15q11.2-q13, resulting in either PWS or AS. However, our study shows that PWS/AS MS-MLPA can also efficiently distinguish the parental origin of duplications of 15q11.2-q13.

  15. Measuring illness beliefs in patients with lower extremity injuries: reliability and validity of the Dutch version of the Somatic Pre-Occupation and Coping questionnaire (SPOC-NL).

    Science.gov (United States)

    Reininga, Inge H F; Brouwer, Sandra; Dijkstra, Anita; Busse, Jason W; Ebrahim, Shanil; Wendt, Klaus W; El Moumni, Mostafa

    2015-02-01

    Positive coping strategies, illness perceptions and recovery expectations are associated with better clinical outcomes and earlier return to work after injuries. The Somatic Pre-Occupation and Coping (SPOC) questionnaire captures illness beliefs and coping towards recovery of physical function and return to work after surgical treatment of tibial shaft fractures. The aim of this study was to translate and culturally adapt the SPOC into Dutch (SPOC-NL) and evaluate its reliability and validity in patients with lower extremity injuries. The SPOC-NL contains four subscales: Somatic complaints, Coping, Energy, and Optimism. Patients treated for lower extremity injuries (N=106) completed the SPOC-NL, Short Form-36 and Short Musculoskeletal Function Assessment (SMFA-NL) questionnaire, and reported their current work status and self-perceived work ability. To assess test-retest reliability, 56 patients completed the SPOC-NL for a second time two weeks after the first administration of the SPOC-NL. We calculated Cronbach's Alpha, intraclass correlation coefficients (ICCs) and G coefficients to measure internal consistency and overall reliability, and used the Bland and Altman method to assess bias between test and retest SPOC-NL scores. To determine construct validity, we explored 16 a priori hypotheses regarding correlations between SPOC-NL scores and subscale scores and SF-36, SMFA-NL, work status and work ability. Internal consistency was good to excellent, with Cronbach's Alpha values ranging between 0.79 and 0.94 and G coefficients ranging between 0.77 and 0.95. Test-retest reliability was also good, since high ICCs (0.72-0.91) and G coefficients (0.82-0.94) were found. Construct validity of the SPOC-NL was good, as 75% of the predefined hypotheses were confirmed. Compared to participants who were on sick leave or receiving disability benefits, participants with a paid job had significantly higher scores on the total score and the subscales Somatic complaints and

  16. Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Niarchou, Maria; Calkins, Monica E; Moore, Tyler M; Tang, Sunny X; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

    2017-10-10

    22q11.2 Deletion Syndrome (22q11.2DS) is associated with increased risk for schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent diagnosis in childhood. Inattention symptoms are pronounced in 22q11.2DS and given that attentional impairment is a core feature of schizophrenia, inattention symptoms may reflect underlying ADHD, psychosis, or both. We investigate whether inattention is associated with psychosis in 22q11.2DS and in other groups at risk for psychosis but without the deletion (ND) (idiopathic clinical risk and first degree family members of individuals with schizophrenia). One hundred thirty-seven individuals with 22q11.2DS (mean age: 14.0), 84 ND individuals with subthreshold psychosis (mean age: 16.9) and 31 ND individuals with family history of psychosis (mean age: 17.0) were included in the study. Psychopathology was assessed using research diagnostic assessments. ADHD total symptoms were associated with overall levels of subthreshold psychosis symptoms in 22q11.2DS (β = .8, P = .04). Inattention symptoms were specifically associated with positive (β = .5, P = .004), negative (β = .5, P = .03), and disorganized (β = .5, P hyperactivity-impulsivity symptoms were associated with disorganized symptoms (β = .5, P = .01). The prevalence of ADHD inattention symptoms was higher in 22q11.2DS with subthreshold psychosis compared to ND individuals with subthreshold psychosis (P < .001), even when adjusting for cognitive impairment and overall psychopathology. The pattern was similar when comparing individuals with 22q11.2DS and ND individuals with family history of psychosis. This is the first study to examine the associations between ADHD symptoms and psychosis in 22q11.2DS. Our findings support a potentially important role of ADHD inattention symptoms in psychosis in 22q11.2DS. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights

  17. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

    Science.gov (United States)

    Wither, Robert G; Borlot, Felippe; MacDonald, Alex; Butcher, Nancy J; Chow, Eva W C; Bassett, Anne S; Andrade, Danielle M

    2017-06-01

    Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification. Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use. Nine patients (9/32, 28%; 9/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified. Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2DS is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2DS is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  18. Microstructure and permeability of the Whitby Mudstone (UK) as an analogue for the Posidonia shale (NL)

    Science.gov (United States)

    Houben, Maartje; Barnhoorn, Auke; Drury, Martyn; Peach, Colin; Spiers, Christopher

    2015-04-01

    In order to make gas productivity from a shale economically interesting we should find ways to better connect the in-situ pore network to the natural occurring and mechanical induced fractures in the rock. When trying to improve gas productivity a first aim is to understand gas storage and gas flow potential through the rock by investigating the microstructure and measure the matrix porosity and permeability of the unfractured shales. Using a combination of methods we have characterized the porosity and permeability of the Jet Dogger section of the Whitby Mudstone Formation (UK), which we use as an analogue for the Posidonia Shale (NL). The Posidonia shale is a possible unconventional source for gas in Northern Europe. A combination of Precision Ion Polishing (PIPS) and Scanning Electron Microscopy (SEM) has been used to investigate the microstructure and the pores. Microstructurally the circa 8 meter thick Jet section of the Whitby Mudstone Formation can be subdivided into a fossil rich (>15 %) top half with an organic matter content of 7-10% and a sub-mm laminated (alternating clay-rich, carbonate-rich, not necessarily fossils, layers) lower half were the organic matter content varies from 0.3-16%. In addition, any possible flow in the rock has to go through the fine-grained clay matrix (all grains 100 nm) is in the order of 0.5-2.5% and is not connected in 2D. Furthermore, overall more than 40% of the visible porosity is present within the clay matrix (sometimes even up to 80%). Porosity and pore size distributions for pores with smaller diameters (2 < diameter < 100 nm) were determined using Ar and N2 gas adsorption. The adsorption porosity was in the order of 1-5%, were we found 1-2.5% porosity for the top half of the section and 2-5% porosity for the bottom half. Ar gas permeability of the samples was measured on 1-inch diameter cores using Ar-gas-permeametry with a pressure step of 0.2 MPa. The permeability measured was in the order of 2•10-19 - 1•10

  19. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.

    Science.gov (United States)

    Lin, Amy; Ching, Christopher R K; Vajdi, Ariana; Sun, Daqiang; Jonas, Rachel K; Jalbrzikowski, Maria; Kushan-Wells, Leila; Pacheco Hansen, Laura; Krikorian, Emma; Gutman, Boris; Dokoru, Deepika; Helleman, Gerhard; Thompson, Paul M; Bearden, Carrie E

    2017-06-28

    Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11.2 duplications (22q-dup; 14 males), and 56 age- and sex-matched controls (31 males). 22q11.2 gene dosage varied positively with intracranial volume, gray and white matter volume, and cortical surface area (deletion control > duplication). Widespread differences were observed for cortical surface area with more localized effects on cortical thickness. These diametric patterns extended into subcortical regions: 22q-dup carriers had a significantly larger right hippocampus, on average, but lower right caudate and corpus callosum volume, relative to 22q-del carriers. Novel subcortical shape analysis revealed greater radial distance (thickness) of the right amygdala and left thalamus, and localized increases and decreases in subregions of the caudate, putamen, and hippocampus in 22q-dup relative to 22q-del carriers. This study provides the first evidence that 22q11.2 is a genomic region associated with gene-dose-dependent brain phenotypes. Pervasive effects on cortical surface area imply that this copy number variant affects brain structure early in the course of development. SIGNIFICANCE STATEMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understand mechanisms underlying deviations from typical brain and cognitive development. The 22q11.2 genomic region is particularly susceptible to chromosomal rearrangements and contains many genes crucial for neuronal development and migration. Not surprisingly

  20. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

    Science.gov (United States)

    Cheung, Evelyn Ning Man; George, Susan R.; Andrade, Danielle M.; Chow, Eva W. C.; Silversides, Candice K.; Bassett, Anne S.

    2015-01-01

    Purpose Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome. Methods We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability. Results The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate- to-severe intellectual disability with other factors such as major structural brain malformations in this sample. Conclusion The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions. PMID:23765047

  1. Identification and Function Analysis of enolase Gene NlEno1 from Nilaparvata lugens (Stål) (Hemiptera:Delphacidae)

    Science.gov (United States)

    Wang, Wei-Xia; Li, Kai-Long; Chen, Yang; Lai, Feng-Xiang; Fu, Qiang

    2015-01-01

    The enolase [EC 4.2.1.11] is an essential enzyme in the glycolytic pathway catalyzing the conversion of 2-phosphoglycerate (2-PGE) to phosphoenolpyruvate (PEP). In this study, a full-length cDNA encoding α-enolase was cloned from rice brown planthopper (Nilaparvata lugens) and is provisionally designated as NlEno1. The cDNA sequence of NlEno1 was 1,851 bp with an open reading frame (ORF) of 1,305 bp and encoding 434 amino acids. The deduced protein shares high identity of 80–87% with ENO1-like protein from Hemiptera, Diptera, and Lepidoptera speices. The NlEno1 showed the highest mRNA expression level in hemolymph, followed by fat body, salivary gland, ovaries and egg, and showed trace mRNA levels in testis. The mRNA of NlEno1 showed up-regulated level in virulent N. lugens population Mudgo, IR56 and IR42 when compared with TN1 population. Injection of double-stranded RNA (dsRNA) of NlEno1 into the adults significantly down-regulated the NlEno1 mRNA level along with decreased eggs and offspring. Moreover, injection of NlEno1-dsRNA decreased mRNA level of Vitellogenin (Vg) gene. These results showed that the NlEno1, as a key glycolytic enzyme, may play roles in regulation of fecundity and adaptation of N. lugens to resistant rice varieties. PMID:26056319

  2. Validity and reliability of the Dutch version of the Copenhagen Hip And Groin Outcome Score (HAGOS-NL in patients with hip pathology.

    Directory of Open Access Journals (Sweden)

    Hilde Giezen

    Full Text Available The Copenhagen Hip And Groin Outcome Score (HAGOS was developed to assess disease-specific consequences in young to middle-aged, physically active hip and/or groin patients. The study aimed to determine validity and reliability of the Dutch version of the HAGOS (HAGOS-NL for middle-aged patients with hip complaints.To assess validity, 117 participants completed five questionnaires: HAGOS-NL, international Hip Outcome Tool (iHOT-12NL, Hip disability and Osteoarthritis Outcome Score (HOOS, RAND-36 Health Survey and Tegner activity scale. Structural validity was determined by conducting confirmatory factor analysis. Construct validity was analyzed by formulating predefined hypotheses regarding relationships between the HAGOS-NL and subscales of the iHOT-12NL, HOOS, RAND-36 and Tegner activity scale. The HAGOS-NL was filled out again by 67 patients to explore test-retest reliability. Reliability was assessed in terms of Cronbach's alpha, Intraclass Correlation Coefficient (ICC, Standard Error of Measurement (SEM and Minimal Detectable Change (MDC. The Bland and Altman method was used to explore absolute agreement.Factor analysis confirmed that the HAGOS-NL consists of six subscales. All hypotheses were confirmed, indicating good construct validity. Internal consistency was good, with Cronbach's alpha values ranging from 0.89 to 0.98. Test-retest reliability was considered good, with ICC values of 0.80 and higher. The SEM ranged from 6.6 to 12.3, and MDC at individual level from 18.3 to 34.1 and at group level from 2.3 to 4.4. Bland and Altman analyses showed no bias.The HAGOS-NL is a reliable and valid instrument for measuring pain, physical functioning and quality of life in middle-aged patients with hip complaints.

  3. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

    Science.gov (United States)

    Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L; Ledbetter, David H; Spiro, John E; Chung, Wendy K; Hanson, Ellen

    2016-08-01

    The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

  4. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

    Science.gov (United States)

    Karunanithi, Zarmiga; Vestergaard, Else Marie; Lauridsen, Mette H

    2017-12-26

    Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population. Neonatal surgery is proposed as a risk factor, but as yet unidentified genetic abnormalities should also be taken into account. Thus, congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16p11.2. We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.

  5. Construction of radiation-reduced hybrids and their use in mapping of microclones from chromosome 10p11.2-q11.2

    International Nuclear Information System (INIS)

    Fujita, Shoichi; Shin, Eisei; Nakamura, Tsutomu; Kurahashi, Hiroki; Mori, Takesada; Takai, Shin-ichiro; Nishisho, Isamu; Kaneda, Yasufumi; Tanaka, Kiyoji.

    1993-01-01

    Radiation-reduced hybrids for mapping of DNA markers in the pericentromeric region of chromosome 10 were developed. A Chinese hamster/human somatic cell hybrid (762-8A) carrying chromosomes 10 and Y as the only human material were exposed to 40,000 rads of irradiation and then rescued by fusion with non-irradiated recipient Chinese hamster cells (GM459). Southern hybridization analyses revealed that 10 of 128 HAT-resistant clones contained human chromosomal fragments corresponding to at least one marker locus between FNRB (10p11.2) and RBP3 (10q11.2). These hybrids were then used to map microdissection clones previously isolated and roughly mapped to this chromosomal region by fluorescence in situ hybridization (FISH). Two of the six microclones studies could be mapped to the proximity of the D10S102 locus. These radiation hybrids are useful for the construction of refined genetic maps of the pericentromeric region of chromosome 10. (author) 50 refs

  6. Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication

    DEFF Research Database (Denmark)

    Hoeffding, Louise K; Trabjerg, Betina B; Olsen, Line

    2017-01-01

    ) age at diagnosis of any psychiatric disorder was 12.5 (8.3) years for individuals with deletions and 6.1 (0.9) years for duplication carriers. A parental diagnosis of schizophrenia-but not of other psychiatric diagnoses-was associated with a 22q11.2 deletion, and parental psychiatric diagnoses other.......2 deletion or duplicationwas performed. A total of 3 768 943 individuals born in Denmark from 1955 to 2012 were followed up during the study period (total follow-up, 57.1 million person-years). Indicators of 22q11.2 deletion or duplication and cumulative incidenceswere estimated using a nested case...

  7. Visual processing deficits in 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Marjan Biria

    2018-01-01

    The reduced activity of ventral and dorsal visual areas during early stages points to an impairment in visual processing seen both in schizophrenia and 22q11.2DS. During intervals related to perceptual closure, the inverse correlation of high amplitudes with positive symptoms suggests that participants with 22q11.2DS who show an increased brain response to illusory contours during the relevant window for contour processing have less psychotic symptoms and might thus be at a reduced prodromal risk for schizophrenia.

  8. 22q11.2 deletion carriers and schizophrenia-associated novel variants.

    Science.gov (United States)

    Balan, S; Iwayama, Y; Toyota, T; Toyoshima, M; Maekawa, M; Yoshikawa, T

    2014-01-01

    The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.

  9. Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Larsen, Kit Melissa; Mørup, Morten; Birknow, Michelle Rosgaard

    2018-01-01

    . Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that top-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia......11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top-down, connection from the right inferior frontal gyrus to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison...

  10. Differentiated psychopharmacological treatment in three genetic subtypes of 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Leeuw, N. de

    2017-01-01

    Introduction: The 22q11.2 deletion syndrome (22q11DS), mostly caused by the common deletion including the TBX- and COMT-genes (LCR22A-D), is highly associated with somatic anomalies. The distal deletion (distal of LCR22D) comprises the MAPK1-gene and is associated with specific heart defects. The

  11. Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology

    Science.gov (United States)

    Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Kieran C.; Campbell, Linda E.

    2013-01-01

    22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among…

  12. Ocular Findings in Children With 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

    2016-07-01

    To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

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

    Directory of Open Access Journals (Sweden)

    Chia-Chen Hung

    2011-11-01

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

  14. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

    DEFF Research Database (Denmark)

    Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien

    2014-01-01

    Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q1...

  15. The cognitive development of children with the 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Duijff, S.N.

    2012-01-01

    Background: The 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with palatal abnormalities, cardiac defects and characteristic facial features. On a behavioural/ psychiatric level, children with 22q11DS are at an increased risk for various psychiatric problems, including Autism

  16. Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

    NARCIS (Netherlands)

    Hoogendoorn, Mechteld L C; Vorstman, Jacob A S; Jalali, Gholam R; Selten, Jean-Paul; Sinke, Richard J; Emanuel, Beverly S; Kahn, René S

    UNLABELLED: The objectives of this study were 1) to examine whether the prevalence of 22q11.2 deletion syndrome (22q11DS) in schizophrenia patients with the Deficit syndrome is higher than the reported approximately 2% for the population of schizophrenia patients as a whole, and 2) to estimate the

  17. Yadav et al., Afr J Tradit Complement Altern Med. (2014) 11(2):249 ...

    African Journals Online (AJOL)

    cadewumi

    Yadav et al., Afr J Tradit Complement Altern Med. (2014) 11(2):249-256 ..... In recent years the popularity of complementary medicine has increased. Much interest has been focused on exploring ... delayed the induction of glucose intolerance and euglycemia in high fructose diet fed rats. Diabegon treatment inhibits the ...

  18. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Mathematical Learning Disabilities in Children with 22q11.2 Deletion Syndrome: A Review

    Science.gov (United States)

    De Smedt, Bert; Swillen, Ann; Verschaffel, Lieven; Ghesquiere, Pol

    2009-01-01

    Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at…

  20. Mapping Cortical Morphology in Youth with Velocardiofacial (22q11.2 Deletion) Syndrome

    Science.gov (United States)

    Kates, Wendy R.; Bansal, Ravi; Fremont, Wanda; Antshel, Kevin M.; Hao, Xuejun; Higgins, Anne Marie; Liu, Jun; Shprintzen, Robert J.; Peterson, Bradley S.

    2011-01-01

    Objective: Velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to 30% of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia. Method:…

  1. Ngobeni and Samie, Afr., J. Infect. Dis. (2017) 11 (2): 1-9 https://doi ...

    African Journals Online (AJOL)

    Renay Ngobeni

    (2017) 11 (2): 1-9 ... was 1% in the same population (de Quadros et al., 2015). ... be 60% and 64% in females and males respectively (Negash et al., 2008). ..... De Quadros, R.M., da Rocha, G.C., Romagna, G., de Oliveira, J.P., Ribeiro, D.M ...

  2. Clinico-epidemiological characteristics of acute respiratory infections caused by coronavirus OC43, NL63 and 229E.

    Science.gov (United States)

    Reina, J; López-Causapé, C; Rojo-Molinero, E; Rubio, R

    2014-12-01

    Acute respiratory infection is a very common condition in the general population. The majority of these infections are due to viruses. This study attempted to determine the clinical and epidemiological characteristics of adult patients with respiratory infection by the coronavirus OC43, NL63 and 229E. Between January 2013 and February 2014, we prospectively studied all patients with suspected clinical respiratory infection by taking throat swabs and performing a reverse transcription polymerase chain reaction in search of coronavirus. In 48 cases (7.0% of the 686 enrolled patients; 12.6% of the 381 in whom a virus was detected) the presence of a coronavirus demonstrated. In 24 cases, the virus was OC43 (50%); in 14 cases, the virus was NL63 (29%); and in 10 cases, the virus was 229E (21%). The mean age was 54.5 years, with a slight predominance of men. The most common clinical presentations were nonspecific influenza symptoms (43.7%), pneumonia (29.2%) and chronic obstructive pulmonary disease exacerbation (8.3%). Fifty-two percent of the patients required hospitalization, and 2 patients required intensive care. There were no deaths. Acute respiratory infections caused by coronavirus mainly affect middle-aged male smokers, who are often affected by previous diseases. The most common clinical picture has been nonspecific influenza symptoms. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

    Science.gov (United States)

    Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie

    2016-10-01

    Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.

  4. 16p11.2 Deletion Mice Display Cognitive Deficits in Touchscreen Learning and Novelty Recognition Tasks

    Science.gov (United States)

    Yang, Mu; Lewis, Freeman C.; Sarvi, Michael S.; Foley, Gillian M.; Crawley, Jacqueline N.

    2015-01-01

    Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we investigated the Dolmetsch line of 16p11.2 heterozygous (+/-) mice on a range of cognitive tasks with different neuroanatomical substrates. Robust novel object recognition deficits were replicated in two cohorts of 16p11.2

  5. 19 CFR 11.2a - Release from Customs custody without payment of tax on cigars, cigarettes and cigarette papers...

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Release from Customs custody without payment of tax on cigars, cigarettes and cigarette papers and tubes. 11.2a Section 11.2a Customs Duties U.S... STAMPING; MARKING Packing and Stamping § 11.2a Release from Customs custody without payment of tax on...

  6. 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.

    Science.gov (United States)

    Mercer-Rosa, Laura; Pinto, Nelangi; Yang, Wei; Tanel, Ronn; Goldmuntz, Elizabeth

    2013-10-01

    We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot. We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children's Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome. We studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, P = .02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, P = .02) and duration of intensive care (6 vs 4 days, P = .007). Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population. Copyright © 2013 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  7. Fluency aspects of oral narrative task in del22q11.2 syndrome.

    Science.gov (United States)

    Santos, Amanda Oliveira; Rossi, Natalia Freitas; Tandel, Maria da Conceição Faria Freitas; Richieri-Costa, Antonio; Giacheti, Célia Maria

    2016-01-01

    To investigate the fluency aspects of the oral narrative task in individuals with del22q11.2 syndrome and compare them with those of individuals with typical language development. Fifteen individuals diagnosed with del22q11.2 syndrome, both genders, aged 7-17 years participated in this study. They were compared with 15 individuals with typical language development, with similar gender and chronological age profiles. The oral narrative was elicited using the book "Frog, Where Are You?", and the fluency aspects were analyzed according to speech rate and type and frequency of disfluency (typical and stuttering). The number and duration of pauses were also investigated. The data were statistically analyzed. The group with del22q11.2 syndrome showed a higher average when compared with the group without the syndrome for the percentage of typical disfluencies, mainly hesitation and revision. The group presenting the syndrome also showed a higher average for stuttering disfluencies, with pause as the most frequent disfluency. With respect to speech rate, the group with the syndrome presented a lower average for the number of words and syllables per minute. Individuals with del22q11.2 syndrome showed greater difficulties of narration than their peers. The fluency aspects of the oral narrative task in subjects with del22q11.2 syndrome were similar to those of individuals with typical language development regarding the presence of hesitation, revision, and pause, but they were different with respect to frequency of disfluency, which was higher in individuals with the syndrome.

  8. Diversity and Evolutionary Histories of Human Coronaviruses NL63 and 229E Associated with Acute Upper Respiratory Tract Symptoms in Kuala Lumpur, Malaysia.

    Science.gov (United States)

    Al-Khannaq, Maryam Nabiel; Ng, Kim Tien; Oong, Xiang Yong; Pang, Yong Kek; Takebe, Yutaka; Chook, Jack Bee; Hanafi, Nik Sherina; Kamarulzaman, Adeeba; Tee, Kok Keng

    2016-05-04

    The human alphacoronaviruses HCoV-NL63 and HCoV-229E are commonly associated with upper respiratory tract infections (URTI). Information on their molecular epidemiology and evolutionary dynamics in the tropical region of southeast Asia however is limited. Here, we analyzed the phylogenetic, temporal distribution, population history, and clinical manifestations among patients infected with HCoV-NL63 and HCoV-229E. Nasopharyngeal swabs were collected from 2,060 consenting adults presented with acute URTI symptoms in Kuala Lumpur, Malaysia, between 2012 and 2013. The presence of HCoV-NL63 and HCoV-229E was detected using multiplex polymerase chain reaction (PCR). The spike glycoprotein, nucleocapsid, and 1a genes were sequenced for phylogenetic reconstruction and Bayesian coalescent inference. A total of 68/2,060 (3.3%) subjects were positive for human alphacoronavirus; HCoV-NL63 and HCoV-229E were detected in 45 (2.2%) and 23 (1.1%) patients, respectively. A peak in the number of HCoV-NL63 infections was recorded between June and October 2012. Phylogenetic inference revealed that 62.8% of HCoV-NL63 infections belonged to genotype B, 37.2% was genotype C, while all HCoV-229E sequences were clustered within group 4. Molecular dating analysis indicated that the origin of HCoV-NL63 was dated to 1921, before it diverged into genotype A (1975), genotype B (1996), and genotype C (2003). The root of the HCoV-229E tree was dated to 1955, before it diverged into groups 1-4 between the 1970s and 1990s. The study described the seasonality, molecular diversity, and evolutionary dynamics of human alphacoronavirus infections in a tropical region. © The American Society of Tropical Medicine and Hygiene.

  9. Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

    Science.gov (United States)

    Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.

  10. Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

    DEFF Research Database (Denmark)

    Horne, Hisani N; Chung, Charles C; Zhang, Han

    2016-01-01

    rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120......The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking......,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry...

  11. Evaluation of 22q11.2 deletion in Cleft Palate patients

    Science.gov (United States)

    Prabodha, L. B. Lahiru; Dias, Dayanath Kumara; Nanayakkara, B. Ganananda; de Silva, Deepthi C.; Chandrasekharan, N. Vishvanath; Ileyperuma, Isurani

    2012-01-01

    Background: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. Materials and Methods: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. Results and Conclusion: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka. PMID:23483617

  12. Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.

    Science.gov (United States)

    Weisman, Omri; Guri, Yael; Gur, Raquel E; McDonald-McGinn, Donna M; Calkins, Monica E; Tang, Sunny X; Emanuel, Beverly; Zackai, Elaine H; Eliez, Stephan; Schneider, Maude; Schaer, Marie; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Shashi, Vandana; Hooper, Stephen R; Armando, Marco; Vicari, Stefano; Pontillo, Maria; Kushan, Leila; Jalbrzikowski, Maria; Bearden, Carrie E; Cubells, Joseph F; Ousley, Opal Y; Walker, Elaine F; Simon, Tony J; Stoddard, Joel; Niendam, Tara A; van den Bree, Marianne B M; Gothelf, Doron

    2017-09-01

    Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown psychotic episode is usually preceded by subthreshold symptoms. In the current study, 760 participants (aged 6-55 years) with a confirmed hemizygous 22q11.2 microdeletion have been recruited through 10 medical sites worldwide, as part of an international research consortium. Of them, 692 were nonpsychotic and with complete measurement data. Subthreshold psychotic symptoms were assessed using the Structured Interview for Prodromal Syndromes (SIPS). Nearly one-third of participants met criteria for positive subthreshold psychotic symptoms (32.8%), less than 1% qualified for acute positive subthreshold symptoms, and almost a quarter met criteria for negative/disorganized subthreshold symptoms (21.7%). Adolescents and young adults (13-25 years) showed the highest rates of subthreshold psychotic symptoms. Additionally, higher rates of anxiety disorders and attention deficit/hyperactivity disorder (ADHD) were found among the study participants with subthreshold psychotic symptoms compared to those without. Full-scale IQ, verbal IQ, and global functioning (GAF) scores were negatively associated with participants' subthreshold psychotic symptoms. This study represents the most comprehensive analysis reported to date on subthreshold psychosis in 22q11.2DS. Novel findings include age-related changes in subthreshold psychotic symptoms and evidence that cognitive deficits are associated with subthreshold psychosis in this population. Future studies should longitudinally follow these symptoms to detect whether and how early identification and treatment of these manifestations can improve long-term outcomes in those that eventually develop a psychotic disorder. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For

  13. 22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress.

    Science.gov (United States)

    Briegel, W; Schneider, M; Schwab, K Otfried

    2008-11-01

    22q11.2 deletion syndrome can be associated with a variety of somatic symptoms, developmental delays and psychiatric disorders. At present, there is little information on behaviour problems, parental stress and possible relations between these factors. Therefore, this study investigates behaviour problems of children and adolescents with 22q11.2DS, and their primary caregivers' stress. Parents of 4-17 year old subjects known to the German 22q11.2 deletion syndrome foundation were anonymously asked to fill out several questionnaires, e.g. the Child Behavior Checklist 4-18 (CBCL/4-18). The primary caregivers of 77/126 children [43 males, 34 females, mean age: 8;0 (4;0-16;11) years] sent back filled-out questionnaires. Forty-six of 76 subjects were rated as clinical on at least one of the CBCL-scales. Males had significantly higher scores on the total problems scale and the internalizing problems scale than females. The patients' age correlated with several CBCL-scales. Eleven of 49 subjects were suspicious of an autism spectrum disorder. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary caregivers experienced higher levels of stress, but showed normal life satisfaction. In spite of high rates of clinical behaviour problems among children and adolescents with 22q11.2DS and despite increased parental stress, most primary caregivers seem to have effective coping strategies, e.g. partnership support, to sustain normal levels of life satisfaction.

  14. Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Moogeh Baharnoori

    2017-09-01

    Full Text Available 22q11.2 deletion syndrome (22q11DS is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here we present the neuroimaging and neuropathologic features of a 22q11DS patient with bilateral periventricular nodular heterotopias (PNH and intraventricular xanthogranulomas that were identified by post-mortem examination.

  15. 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

    Science.gov (United States)

    Ulfarsson, M O; Walters, G B; Gustafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, D F; Arnarsdottir, S; Jonsdottir, G A; Gisladottir, R S; Bjornsdottir, G; Helgason, H; Ellingsen, L M; Halldorsson, J G; Saemundsen, E; Stefansdottir, B; Jonsson, L; Eiriksdottir, V K; Eiriksdottir, G R; Johannesdottir, G H; Unnsteinsdottir, U; Jonsdottir, B; Magnusdottir, B B; Sulem, P; Thorsteinsdottir, U; Sigurdsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefansson, H; Stefansson, K

    2017-04-25

    Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.

  16. Genomic analysis of a xylose operon and characterization of novel xylose isomerase and xylulokinase from Bacillus coagulans NL01.

    Science.gov (United States)

    Zheng, Zhaojuan; Lin, Xi; Jiang, Ting; Ye, Weihua; Ouyang, Jia

    2016-08-01

    To investigate the xylose operon and properties of xylose isomerase and xylulokinase in Bacillus coagulans that can effectively ferment xylose to lactic acid. The xylose operon is widely present in B. coagulans. It is composed of four putative ORFs. Novel xylA and xylB from B. coagulans NL01 were cloned and expressed in Escherichia coli. Sequence of xylose isomerase was more conserved than that of xylulokinase. Both the enzymes exhibited maximum activities at pH 7-8 but with a high temperature maximum of 80-85 °C, divalent metal ion was prerequisite for their activation. Xylose isomerase and xylulokinase were most effectively activated by Ni(2+) and Co(2+), respectively. Genomic analysis of xylose operon has contributed to understanding xylose metabolism in B. coagulans and the novel xylose isomerase and xylulokinase might provide new alternatives for metabolic engineering of other strains to improve their fermentation performance on xylose.

  17. Superfund Record of Decision (EPA Region 2): NL Industries, Salem County, Pedricktown, NJ. (First remedial action), September 1991

    Energy Technology Data Exchange (ETDEWEB)

    1991-09-27

    The 44-acre NL Industries site is an inactive, secondary lead smelting facility in Pedricktown, Salem County, New Jersey. The site overlies the Cape May aquifer, a potential source of drinking water for local residents. In 1989, EPA began a multi-phased removal action. The Focused Feasibility Study resulted in the issuance of the Early Remedial Action Record of Decision (ROD), designated as Operable Unit (OU2). The nature and extent of remaining contamination on the site and areas adjacent to the site in various environmental media, such as soil, sediment, ground water, surface water, and air, are currently being evaluated and will be addressed as OU1 in a subsequent ROD. The primary contaminants of concern affecting the slag and lead oxide piles, sediment, debris, and standing surface water are metals including arsenic, chromium, and lead. The selected remedial action for the site is included.

  18. Fen Bilgisi Öğretmen Adaylarının Kimya Bilgilerini Günlük Hayatla İlişkilendirebilme Düzeyleri

    OpenAIRE

    Yadigaroğlu, Yrd. Doç. Dr. Mustafa; DEMİRCİOĞLU, Doç. Dr. Gökhan; DEMİRCİOĞLU, Doç. Dr. Hülya

    2017-01-01

    Fen eğitiminin temel amaçlarındanbiri, öğrencilerin fen okur-yazarı olmalarını sağlayarak onları günlükyaşantılarında karşılaştıkları fen olaylarına anlam vermelerine yardımcıolmaktır. Günlük hayatla ya da bağlamı ile ilişkilendirilmeyen bilgi öğrencininzihninde her zaman eksik olacaktır. Bunun gerçekleştirilmesinde fen dersleriiçerisinde yer alan kimya önemli bir yere sahiptir. Bu düşünceden hareketleçalışmada, fen bilgisi öğretmen adaylarının kimya bilgilerini günlük hayatlailişkilendirebil...

  19. Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history.

    Science.gov (United States)

    Toyosima, M; Maekawa, M; Toyota, T; Iwayama, Y; Arai, M; Ichikawa, T; Miyashita, M; Arinami, T; Itokawa, M; Yoshikawa, T

    2011-09-01

    The 22q11.2 deletion is the most prominent known genetic risk factor for schizophrenia, but its penetrance is at most approximately 50% suggesting that additional risk factors are required for disease progression. We examined a woman with schizophrenia with this deletion for such risk factors. She had high plasma pentosidine levels ('carbonyl stress') and a frameshift mutation in the responsible gene, GLO1. She also had a constant exotropia, so we examined the PHOX2B gene associated with both schizophrenia and strabismus, and detected a 5-alanine deletion. We propose that the combination of these genetic defects may have exceeded the threshold for the manifestation of schizophrenia.

  20. Excitation of isomeric states 1h11/2 in (γ, n) reactions

    International Nuclear Information System (INIS)

    Tonchev, A.P.; Gangrskij, Yu.P.; Belov, A.G.

    1995-01-01

    The cross sections of (γ, n) reactions were measured for ground and isomeric states 1h 11/2 in 16 isotopes of Pd, Cd, Sn, Te, Ba, Ce, Nd and Sm. The energy of γ-rays was placed in the region of Giant Dipole Resonance. An activation method of measurements has been used. IR dependence of neutron and proton number in nucleus was detected and of excitation energy of residual nucleus as well. Different factors influencing the values of the isomeric ratios are discussed. 20 refs., 5 figs., 2 tabs

  1. An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

    OpenAIRE

    Yasutaka Tastuzawa; Kanako Sekinaka; Tetsufumi Suda; Hiroshi Matsumoto; Hiroyuki Otabe; Shigeaki Nonoyama; Aihide Yoshino

    2015-01-01

    In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS) exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like ps...

  2. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan [Hospital for Sick Children, Diagnostic Imaging, Toronto (Canada); Clarke, Howard [Hospital for Sick Children, Plastic Surgery, Toronto (Canada); Weksberg, Rosanna [Hospital for Sick Children, Clinical and Metabolic Genetics, Toronto (Canada)

    2008-07-15

    Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

  3. [22q11.2 deletion: handicap-related problems and coping strategies of primary caregivers].

    Science.gov (United States)

    Briegel, Wolfgang; Schneider, Marco; Schwab, K Otfried

    2009-11-01

    To investigate handicap-related problems of children and adolescents with 22q11.2 deletion syndrome and their primary caregivers' coping strategies. Primary caregivers of 153 subjects aged 2-16 years were anonymously asked to fill out questionnaires, e.g., the Handicap Related Problems for Parents Inventory. Primary caregivers of 96 subjects (53 males, 43 females; mean age: 7;0 [2;1-16;11] years) sent back questionnaires. Patient's behaviour and discipline were the most important handicap-related problems. Significant correlations could be found between the patient's age and his/her relationship with the primary caregiver (rho=0.228; p=.029) and other family members (rho=0.293; p=.004). Compared to other parents of physically handicapped children or those with multiple handicaps, these parents did not experience increased stress. The more the coping strategies "self-fulfillment" and "intensification of partnership" were used, the lower parental stress was (p=.012, p=.025, respectively). "Focusing on the handicapped child" was positively correlated with high parental stress (p=.000). With regard to parental stress and coping strategies, primary caregivers of children and adolescents with 22q11.2 deletion do not significantly differ from other parents of physically handicapped children. As handicap-related family problems increase with the patient's age, a growing need for counseling, especially for aspects of parenting and discipline, and for treatment can be presumed.

  4. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

    International Nuclear Information System (INIS)

    Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan; Clarke, Howard; Weksberg, Rosanna

    2008-01-01

    Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

  5. Annual trace-metal load estimates and flow-weighted concentrations of cadmium, lead, and zinc in the Spokane River basin, Idaho and Washington, 1999-2004

    Science.gov (United States)

    Donato, Mary M.

    2006-01-01

    Streamflow and trace-metal concentration data collected at 10 locations in the Spokane River basin of northern Idaho and eastern Washington during 1999-2004 were used as input for the U.S. Geological Survey software, LOADEST, to estimate annual loads and mean flow-weighted concentrations of total and dissolved cadmium, lead, and zinc. Cadmium composed less than 1 percent of the total metal load at all stations; lead constituted from 6 to 42 percent of the total load at stations upstream from Coeur d'Alene Lake and from 2 to 4 percent at stations downstream of the lake. Zinc composed more than 90 percent of the total metal load at 6 of the 10 stations examined in this study. Trace-metal loads were lowest at the station on Pine Creek below Amy Gulch, where the mean annual total cadmium load for 1999-2004 was 39 kilograms per year (kg/yr), the mean estimated total lead load was about 1,700 kg/yr, and the mean annual total zinc load was 14,000 kg/yr. The trace-metal loads at stations on North Fork Coeur d'Alene River at Enaville, Ninemile Creek, and Canyon Creek also were relatively low. Trace-metal loads were highest at the station at Coeur d'Alene River near Harrison. The mean annual total cadmium load was 3,400 kg/yr, the mean total lead load was 240,000 kg/yr, and the mean total zinc load was 510,000 kg/yr for 1999-2004. Trace-metal loads at the station at South Fork Coeur d'Alene River near Pinehurst and the three stations on the Spokane River downstream of Coeur d'Alene Lake also were relatively high. Differences in metal loads, particularly lead, between stations upstream and downstream of Coeur d'Alene Lake likely are due to trapping and retention of metals in lakebed sediments. LOADEST software was used to estimate loads for water years 1999-2001 for many of the same sites discussed in this report. Overall, results from this study and those from a previous study are in good agreement. Observed differences between the two studies are attributable to streamflow

  6. Characterization of an L-arabinose isomerase from Bacillus coagulans NL01 and its application for D-tagatose production.

    Science.gov (United States)

    Mei, Wending; Wang, Lu; Zang, Ying; Zheng, Zhaojuan; Ouyang, Jia

    2016-06-30

    L-arabinose isomerase (AI) is a crucial catalyst for the biotransformation of D-galactose to D-tagatose. In previous reports, AIs from thermophilic bacterial strains had been wildly researched, but the browning reaction and by-products formed at high temperatures restricted their applications. By contrast, AIs from mesophilic Bacillus strains have some different features including lower optimal temperatures and lower requirements of metallic cofactors. These characters will be beneficial to the development of a more energy-efficient and safer production process. However, the relevant data about the kinetics and reaction properties of Bacillus AIs in D-tagatose production are still insufficient. Thus, in order to support further applications of these AIs, a comprehensive characterization of a Bacillus AI is needed. The coding gene (1422 bp) of Bacillus coagulans NL01 AI (BCAI) was cloned and overexpressed in the Escherichia coli BL21 (DE3) strain. The enzymatic property test showed that the optimal temperature and pH of BCAI were 60 °C and 7.5 respectively. The raw purified BCAI originally showed high activity in absence of outsourcing metallic ions and its thermostability did not change in a low concentration (0.5 mM) of Mn(2+) at temperatures from 70 °C to 90 °C. Besides these, the catalytic efficiencies (k cat/K m) for L-arabinose and D-galactose were 8.7 mM(-1) min(-1) and 1.0 mM(-1) min(-1) respectively. Under optimal conditions, the recombinant E. coli cell containing BCAI could convert 150 g L(-1) and 250 g L(-1) D-galactose to D-tagatose with attractive conversion rates of 32 % (32 h) and 27 % (48 h). In this study, a novel AI from B. coagulans NL01was cloned, purified and characterized. Compared with other reported AIs, this AI could retain high proportions of activity at a broader range of temperatures and was less dependent on metallic cofactors such as Mn(2+). Its substrate specificity was understood deeply by carrying out molecular

  7. Reliability of the modified paediatric evaluation of disability inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment

    NARCIS (Netherlands)

    Salavati, Masoud; Waninge, Aly; Rameckers, E.A.A.; de Blécourt, A.C.E.; Krijnen, Wim; Steenbergen, B.; van der Schans, Cees

    Purpose The aims of this study were to adapt the Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral visual impairment (CVI) and cerebral palsy (CP) and determine test–retest and inter-respondent reliability. Method The Delphi method was used to gain

  8. Relatie tussen ITS, weerstand tegen vervorming en de mengsels samenstelling : Gebruik van de MEPDG relaties voor Nederlandse mengsels uit NL-LAB

    NARCIS (Netherlands)

    Erkens, Sandra; Kasbergen, C.; Villani, M.M.; Scarpas, Athanasios; Florio, E.; Berti, C.

    2014-01-01

    Sinds 2008 werken we in Nederland met functionele eigenschappen voor asfalt
    beton. Hierbij wordt niet zo zeer op het “recept” van het asfalt gestuurd, als
    wel op de eigenschappen ervan die van belang zijn voor het gedrag in de weg.
    Binnen het NL-LAB programma wordt de relatie tussen deze

  9. An adenylyl cyclase like-9 gene (NlAC9) influences growth and fecundity in the brown planthopper, Nilaparvata lugens (Stål) (Hemiptera: Delphacidae).

    Science.gov (United States)

    Ge, LinQuan; Gu, HaoTian; Huang, Bo; Song, Qisheng; Stanley, David; Liu, Fang; Yang, Guo-Qing; Wu, Jin-Cai

    2017-01-01

    The cAMP/PKA intracellular signaling pathway is launched by adenylyl cyclase (AC) conversion of adenosine triphosphate (ATP) to 3', 5'-cyclic AMP (cAMP) and cAMP-dependent activation of PKA. Although this pathway is very well known in insect physiology, there is little to no information on it in some very small pest insects, such as the brown planthopper (BPH), Nilaparvata lugens Stål. BPH is a destructive pest responsible for tremendous crop losses in rice cropping systems. We are investigating the potentials of novel pest management technologies from RNA interference perspective. Based on analysis of transcriptomic data, the BPH AC like-9 gene (NlAC9) was up-regulated in post-mating females, which led us to pose the hypothesis that NlAC9 is a target gene that would lead to reduced BPH fitness and populations. Targeting NlAC9 led to substantially decreased soluble ovarian protein content, yeast-like symbiont abundance, and vitellogenin gene expression, accompanied with stunted ovarian development and body size. Eggs laid were decreased and oviposition period shortened. Taken together, our findings indicated that NlAC9 exerted pronounced effects on female fecundity, growth and longevity, which strongly supports our hypothesis.

  10. Biorefinery.nl 2006 : the results of the 1st year of the Dutch Network on Biorefinery, BioRef 0606

    NARCIS (Netherlands)

    Zwart, R.W.R.; Ree, van R.; Annevelink, E.; Jong, de E.

    2006-01-01

    The Dutch Network on Biorefinery (Biorefinery.nl) is a joint initiative of the Energy research Centre of the Netherlands (ECN) and Wageningen University and Research Centre (WUR). It is meant to inform industry, research institutes, universities, NGOs, governments and the general public about

  11. Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment

    NARCIS (Netherlands)

    Salavati, M.; Waninge, A.; Rameckers, E. A. A.; de Blecourt, A. C. E.; Krijnen, W. P.; Steenbergen, B.; van der Schans, C. P.

    Purpose: The aims of this study were to adapt the Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral visual impairment (CVI) and cerebral palsy (CP) and determine test-retest and inter-respondent reliability. Method: The Delphi method was used to gain

  12. Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment.

    Science.gov (United States)

    Salavati, M; Waninge, A; Rameckers, E A A; de Blécourt, A C E; Krijnen, W P; Steenbergen, B; van der Schans, C P

    2015-02-01

    The aims of this study were to adapt the Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral visual impairment (CVI) and cerebral palsy (CP) and determine test-retest and inter-respondent reliability. The Delphi method was used to gain consensus among twenty-one health experts familiar with CVI. Test-retest and inter-respondent reliability were assessed for parents and caregivers of 75 children (aged 50-144 months) with CP and CVI. The percentage identical scores of item scores were computed, as well as the interclass coefficients (ICC) and Cronbach's alphas of scale scores over the domains self-care, mobility, and social function. All experts agreed on the adaptation of the PEDI-NL for children with CVI. On item score, for the Functional Skills scale, mean percentage identical scores variations for test-retest reliability were 73-79 with Caregiver Assistance scale 73-81, and for inter-respondent reliability 21-76 with Caregiver Assistance scale 40-43. For all scales over all domains ICCs exceeded 0.87. For the domains self-care, mobility, and social function, the Functional Skills scale and the Caregiver Assistance scale have Cronbach's alpha above 0.88. The adapted PEDI-NL for children with CP and CVI is reliable and comparable to the original PEDI-NL. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. An adenylyl cyclase like-9 gene (NlAC9 influences growth and fecundity in the brown planthopper, Nilaparvata lugens (Stål (Hemiptera: Delphacidae.

    Directory of Open Access Journals (Sweden)

    LinQuan Ge

    Full Text Available The cAMP/PKA intracellular signaling pathway is launched by adenylyl cyclase (AC conversion of adenosine triphosphate (ATP to 3', 5'-cyclic AMP (cAMP and cAMP-dependent activation of PKA. Although this pathway is very well known in insect physiology, there is little to no information on it in some very small pest insects, such as the brown planthopper (BPH, Nilaparvata lugens Stål. BPH is a destructive pest responsible for tremendous crop losses in rice cropping systems. We are investigating the potentials of novel pest management technologies from RNA interference perspective. Based on analysis of transcriptomic data, the BPH AC like-9 gene (NlAC9 was up-regulated in post-mating females, which led us to pose the hypothesis that NlAC9 is a target gene that would lead to reduced BPH fitness and populations. Targeting NlAC9 led to substantially decreased soluble ovarian protein content, yeast-like symbiont abundance, and vitellogenin gene expression, accompanied with stunted ovarian development and body size. Eggs laid were decreased and oviposition period shortened. Taken together, our findings indicated that NlAC9 exerted pronounced effects on female fecundity, growth and longevity, which strongly supports our hypothesis.

  14. Does Differential Visual Exploration Contribute to Visual Memory Impairments in 22Q11.2 Microdeletion Syndrome?

    Science.gov (United States)

    Bostelmann, M.; Glaser, B.; Zaharia, A.; Eliez, S.; Schneider, M.

    2017-01-01

    Background: Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may…

  15. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

    DEFF Research Database (Denmark)

    Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M

    2013-01-01

    Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplication...

  16. Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Bassett, Anne S.; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; Van Amelsvoort, Therese; McDonald-Mcginn, Donna M.; Gur, Raquel E.; Swillen, Ann; van den Bree, Marianne B M; Murphy, Kieran C.; Gothelf, Doron; Bearden, Carrie E.; Eliez, Stephan; Kates, Wendy R.; Philip, Nicole; Sashi, Vandana; Campbell, Linda E.; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M.; Simon, Tony J.; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; Van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R.; Owen, Michael J; Murphy, Clodagh M.; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen R.; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J.; Scherer, Stephen W.; Emanuel, Beverly S.; Guo, Tingwei; Morrow, Bernice E.; Marshall, Christian R.

    2017-01-01

    Objective: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this studywas to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Method: Through an

  17. Comparing the Broad Socio-Cognitive Profile of Youth with Williams Syndrome and 22Q11.2 Deletion Syndrome

    Science.gov (United States)

    Weisman, O.; Feldman, R.; Burg-Malki, M.; Keren, M.; Geva, R.; Diesendruck, G.; Gothelf, D.

    2017-01-01

    Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…

  18. 22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response

    DEFF Research Database (Denmark)

    Larsen, Kit Melissa; Pellegrino, Giovanni; Birknow, Michelle Rosgaard

    2017-01-01

    The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated with a reduced cortical gamma...

  19. Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology

    Science.gov (United States)

    Sanders, Ashley F.; Hobbs, Diana A.; Stephenson, David D.; Laird, Robert D.; Beaton, Elliott A.

    2017-01-01

    Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). We investigated anxiety and physiological stress reactivity in relation to visuospatial…

  20. An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Yasutaka Tastuzawa

    2015-01-01

    Full Text Available In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like psychosis. From a diagnostic viewpoint, early detection of impaired intellectual functioning and hyperprolinemia in patients with epilepsy with 22q11.2DS may be helpful in predicting the developmental timing of interictal psychosis. From a therapeutic viewpoint, special attention needs to be paid to phenytoin-induced hypocalcemia in this syndrome.

  1. Effects of Inhibitors on the Transcriptional Profiling of Gluconobater oxydans NL71 Genes after Biooxidation of Xylose into Xylonate

    Directory of Open Access Journals (Sweden)

    Yong Xu

    2017-04-01

    Full Text Available D-Xylonic acid belongs to the top 30 biomass-based platform chemicals and represents a promising application of xylose. Until today, Gluconobacter oxydans NL71 is the most efficient microbe capable of fermenting xylose into xylonate. However, its growth is seriously inhibited when concentrated lignocellulosic hydrolysates are used as substrates due to the presence of various degraded compounds formed during biomass pretreatment. Three critical lignocellulosic inhibitors were thereby identified, i.e., formic acid, furfural, and 4-hydroxybenzaldehyde. As microbe fermentation is mostly regulated at the genome level, four groups of cell transcriptomes were obtained for a comparative investigation by RNA sequencing of a control sample with samples treated separately with the above-mentioned inhibitors. The digital gene expression profiles screened 572, 714 genes, and 408 DEGs was obtained by the comparisons among four transcriptomes. A number of genes related to the different functional groups showed characteristic expression patterns induced by three inhibitors, in which 19 genes were further tested and confirmed by qRT-PCR. We extrapolated many differentially expressed genes that could explain the cellular responses to the inhibitory effects. We provide results that enable the scientific community to better define the molecular processes involved in the microbes' responses to lignocellulosic inhibitors during the cellular biooxidation of xylose into xylonic acid.

  2. HowNutsAreTheDutch (HoeGekIsNL): A crowdsourcing study of mental symptoms and strengths.

    Science.gov (United States)

    Krieke, Lian Van Der; Jeronimus, Bertus F; Blaauw, Frank J; Wanders, Rob B K; Emerencia, Ando C; Schenk, Hendrika M; Vos, Stijn De; Snippe, Evelien; Wichers, Marieke; Wigman, Johanna T W; Bos, Elisabeth H; Wardenaar, Klaas J; Jonge, Peter De

    2016-06-01

    HowNutsAreTheDutch (Dutch: HoeGekIsNL) is a national crowdsourcing study designed to investigate multiple continuous mental health dimensions in a sample from the general population (n = 12,503). Its main objective is to create an empirically based representation of mental strengths and vulnerabilities, accounting for (i) dimensionality and heterogeneity, (ii) interactivity between symptoms and strengths, and (iii) intra-individual variability. To do so, HowNutsAreTheDutch (HND) makes use of an internet platform that allows participants to (a) compare themselves to other participants via cross-sectional questionnaires and (b) to monitor themselves three times a day for 30 days with an intensive longitudinal diary study via their smartphone. These data enable for personalized feedback to participants, a study of profiles of mental strengths and weaknesses, and zooming into the fine-grained level of dynamic relationships between variables over time. Measuring both psychiatric symptomatology and mental strengths and resources enables for an investigation of their interactions, which may underlie the wide variety of observed mental states in the population. The present paper describes the applied methods and technology, and presents the sample characteristics. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

  3. Degree of urbanization and mammographic density in Dutch breast cancer screening participants: results from the EPIC-NL cohort.

    Science.gov (United States)

    Emaus, Marleen J; Bakker, Marije F; Beelen, Rob M J; Veldhuis, Wouter B; Peeters, Petra H M; van Gils, Carla H

    2014-12-01

    It has been observed that women living in urban areas have a higher mammographic density (MD) compared to women living in rural areas. This association might be explained by regional differences in reproductive and lifestyle factors or perhaps by variation in exposure to ambient air pollution as air pollution particles have been described to show estrogenic activity. We investigated the association between degree of urbanization and MD, and aimed to unravel the underlying etiology. 2,543 EPIC-NL participants were studied, and general linear models were used. Urbanization was categorized into five categories according to the number of addresses/km(2). Information on reproductive and lifestyle factors was obtained from the recruitment questionnaire. Air pollution exposure was estimated using land-use regression models. MD was expressed as percent density (PD) and dense area (DA), and was quantified using Cumulus. Women living in extremely urbanized areas had a higher PD (21.4%, 95% confidence interval (CI) 20.5-22.3%) compared to women living in not urbanized areas (16.1, 95% CI 14.5-17.8%, P trend air pollution (adjusted PDextremely_urbanized = 22.1%, 95% CI 18.0-26.5% versus adjusted PDnot_urbanized = 16.9%, 95% CI 13.0-21.2, P trend urbanization is associated with MD. The association could not be explained by differences in reproductive and lifestyle factors or by variation in air pollution exposure.

  4. Roles of NlAKTIP in the Growth and Eclosion of the Rice Brown Planthopper, Nilaparvata lugens Stål, as Revealed by RNA Interference

    Science.gov (United States)

    Hao, Peiying; Lu, Chaofeng; Ma, Yan; Xu, Lingbo; Zhu, Jiajun; Yu, Xiaoping

    2015-01-01

    AKT-interacting protein (AKTIP) interacts with serine/threonine protein kinase B (PKB)/AKT. AKTIP modulates AKT’s activity by enhancing the phosphorylation of the regulatory site and plays a crucial role in multiple biological processes. In this study, the full length cDNA of NlAKTIP, a novel AKTIP gene in the brown planthopper (BPH) Nilaparvata lugens, was cloned. The reverse transcription quantitive PCR (RT-qPCR) results showed that the NlAKTIP gene was strongly expressed in gravid female adults, but was relatively weakly expressed in nymphs and male adult BPH. In female BPH, treatment with dsAKTIP resulted in the efficient silencing of NlAKTIP, leading to a significant reduction of mRNA levels, about 50% of those of the untreated control group at day 7 of the study. BPH fed with dsAKTIP had reduced growth with lower body weights and smaller sizes, and the body weight of BPH treated with dsAKTIP at day 7 decreased to about 30% of that of the untreated control. Treatment of dsAKTIP significantly delayed the eclosion for over 7 days relative to the control group and restricted ovarian development to Grade I (transparent stage), whereas the controls developed to Grade IV (matured stage). These results indicated that NlAKTIP is crucial to the growth and development of female BPH. This study provided a valuable clue of a potential target NlAKTIP for inhibiting the BPH, and also provided a new point of view on the interaction between BPH and resistant rice. PMID:26402675

  5. Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.

    Science.gov (United States)

    Peyroux, Elodie; Rigard, Caroline; Saucourt, Guillaume; Poisson, Alice; Plasse, Julien; Franck, Nicolas; Demily, Caroline

    2018-03-25

    Social cognitive impairments are core features in 22q11.2 deletion syndrome (22q11.2DS) and schizophrenia (SCZ). Indeed, adults with 22q.11.2 DS often have poorer social competence as well as poorer performance on measures of social cognitive skills (emotion recognition and theory of mind, ToM) compared with typically developing people. However, studies comparing specific social cognitive components in 22q11.2DS and SCZ have not yet been widely conducted. In this study we compared performances of 22q11.2DS and SCZ on both facial emotion recognition and ToM. Patients with 22q11.2DS (n = 18) and matched SCZ patients were recruited. After neuropsychological testing, the facial emotion recognition test assessed the patients' ability to recognize six basic, universal emotions (joy, anger, sadness, fear, disgust, and contempt). The Versailles-situational intentional reading evaluated ToM with six scenes from movies showing characters in complex interactions (involving hints, lies, and indirect speech). We show that 22q11.2DS exhibited significantly lower performance in emotion recognition than SCZ patients did, especially for disgust, contempt, and fear. This impairment seems to be a core cognitive phenotype in 22q11.2DS, regardless of the presence of SCZ symptoms. Concerning ToM, our results may highlight the same impairment level in 22q11.2DS and SCZ but require to be replicated in a larger cohort. Our results document the existence of threshold social cognitive deficits distinguishing 22q11.2DS from SCZ. © 2018 John Wiley & Sons Australia, Ltd.

  6. Completion Report for Model Evaluation Well ER-11-2: Corrective Action Unit 98: Frenchman Flat

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Underground Test Area and Boreholes Programs and Operations

    2013-01-22

    Model Evaluation Well ER-11-2 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office in support of Nevada Environmental Management Operations at the Nevada National Security Site (formerly known as the Nevada Test Site). The well was drilled in August 2012 as part of a model evaluation program in the Frenchman Flat area of Nye County, Nevada. The primary purpose of the well was to provide detailed geologic, hydrogeologic, chemical, and radionuclide data that can be used to test and build confidence in the applicability of the Frenchman Flat Corrective Action Unit flow and transport models for their intended purpose. In particular, this well was designed to provide data to evaluate the uncertainty in model forecasts of contaminant migration from the upgradient underground nuclear test PIN STRIPE, conducted in borehole U-11b in 1966. Well ER-11-2 will provide information that can be used to refine the Phase II Frenchman Flat hydrostratigraphic framework model if necessary, as well as to support future groundwater flow and transport modeling. The main 31.1-centimeter (cm) hole was drilled to a total depth of 399.6 meters (m). A completion casing string was not set in Well ER-11-2. However, a piezometer string was installed in the 31.1-cm open hole. The piezometer is composed of 7.3-cm stainless-steel tubing hung on 6.0-cm carbon-steel tubing via a crossover sub. The piezometer string was landed at 394.5 m, for monitoring the lower tuff confining unit. Data collected during and shortly after hole construction include composite drill cuttings samples collected every 3.0 m, various geophysical logs, water quality (including tritium and other test-related radionuclides) measurements, and water level measurements. The well penetrated 42.7 m of Quaternary and Tertiary alluvium and 356.9 m of Tertiary volcanic rock. The water-level measured in the piezometer string on September 25, 2012, was 353.8 m below ground surface. No

  7. Failure to thrive as presentation in a patient with 22q11.2 microdeletion.

    Science.gov (United States)

    Bossi, Grazia; Gertosio, Chiara; Meazza, Cristina; Farello, Giovanni; Bozzola, Mauro

    2016-02-11

    Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity. We describe the case of an 8 month-old infant with no dysmorphic signs who showed progressive postnatal growth failure and no chronic systemic diseases. We found a 22q11.2 microdeletion, inherited from the mother, suggesting the diagnosis of DiGeorge syndrome. The patient had an isolated growth hormone (GH) deficiency and a significant increase in linear growth during the first and the second year of GH therapy, and a recovery of weight was shown. Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.

  8. The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

    Directory of Open Access Journals (Sweden)

    Nadia Bayou

    2008-01-01

    We report on the clinical, cytogenetic, and molecular findings in a boy with autism carrying a de novo translocation t(7;16(p22.1;p11.2. The chromosome 16 breakpoint disrupts the paralogous SLC6A8 gene also called SLC6A10 or CT2. Predicted translation of exons and RT-PCR analysis reveal specific expression of the creatine transporter paralogous in testis and brain. Several studies reported on the role of X-linked creatine transporter mutations in individuals with mental retardation, with or without autism. The existence of disruption in SLC6A8 paralogous gene associated with idiopathic autism suggests that this gene may be involved in the autistic phenotype in our patient.

  9. Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

    Directory of Open Access Journals (Sweden)

    Pichet Termsarasab

    2014-11-01

    Full Text Available Background: Four cases of paroxysmal kinesigenic dyskinesia (PKD have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. Case Report: We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray‐based comparative genomic hybridization (aCGH detected a 533.9‐kb deletion on chromosome 16, encompassing over 20 genes and transcripts. Discussion: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.

  10. Detection of the deletion on Yp11.2 in a Chinese population.

    Science.gov (United States)

    Chen, Wenjing; Wu, Weiwei; Cheng, Jianding; Zhang, Yinming; Chen, Yong; Sun, Hongyu

    2014-01-01

    Sex determination tests based on Amelogenin gene as part of commercial PCR multiplex reaction kits have been widely applied in forensic DNA analysis. Mutations that cause dropout of Y chromosomal Amelogenin gene (AMELY) could lead to errors in gender determination and mixture interpretation. To infer the mechanism and estimate the dropout frequency of AMELY and adjacent Y-STRs, we studied 3 samples with AMELY dropout combined with DYS458 and/or DYS456 and 37 samples with DYS456 dropout. DYS456, DYS458 and AMELY are located in the Yp11.2 region. The singleplex amplification system showed the null alleles could be caused by fragment deletion in Yp11.2 rather than a point mutation in the primer binding region. After detection of the 17 Y-STR and 77 STS markers, the deletion map showed different patterns. The DYS456-AMELY-DYS458 deletion pattern was the largest, breaking from 3.60 Mb to 8.29 Mb in the Y chromosome, and the overall frequency was 0.0077%. The AMELY-DYS458 deletion pattern was broke from 6.74 Mb to 9.17 Mb, with a 0.0155% frequency. The DYS456 negative pattern was concentrated in two main deletion regions, with a 0.8220% frequency. The frequency of all negative pattern was 0.0155%. All the AMELY-DYS458 and DYS456-AMELY-DYS458, and 92% of the DYS456 deletion patterns belonged to Hg O3, the rest belonged to Hg Q. The DYS456 deletion pattern was first reported in Chinese population. The current and previous findings suggest additional gender test for ambiguous sex determination may be required. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  11. Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

    Directory of Open Access Journals (Sweden)

    Nicole E Spruijt

    2014-07-01

    Full Text Available Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS. Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4% had hyponasal resonance, 8 (33% had normal resonance, 10 (42% had hypernasal resonance on vowels only, and 5 (21% had hypernasal resonance on both vowels and consonants. The mean cranial base angle was 136.5° (standard deviation, 5.3°; range, 122.3-144.8°. The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242. Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126. The group with hypernasal resonance had a significantly more obtuse mean cranial base angle (138° vs. 134°, P=0.049 but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412. Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

  12. A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

    Science.gov (United States)

    González, Juan R; Cáceres, Alejandro; Esko, Tonu; Cuscó, Ivon; Puig, Marta; Esnaola, Mikel; Reina, Judith; Siroux, Valerie; Bouzigon, Emmanuelle; Nadif, Rachel; Reinmaa, Eva; Milani, Lili; Bustamante, Mariona; Jarvis, Deborah; Antó, Josep M; Sunyer, Jordi; Demenais, Florence; Kogevinas, Manolis; Metspalu, Andres; Cáceres, Mario; Pérez-Jurado, Luis A

    2014-03-06

    The prevalence of asthma and obesity is increasing worldwide, and obesity is a well-documented risk factor for asthma. The mechanisms underlying this association and parallel time trends remain largely unknown but genetic factors may be involved. Here, we report on a common ~0.45 Mb genomic inversion at 16p11.2 that can be accurately genotyped via SNP array data. We show that the inversion allele protects against the joint occurrence of asthma and obesity in five large independent studies (combined sample size of 317 cases and 543 controls drawn from a total of 5,809 samples; combined OR = 0.48, p = 5.5 × 10(-6)). Allele frequencies show remarkable worldwide population stratification, ranging from 10% in East Africa to 49% in Northern Europe, consistent with discordant and extreme genetic drifts or adaptive selections after human migration out of Africa. Inversion alleles strongly correlate with expression levels of neighboring genes, especially TUFM (p = 3.0 × 10(-40)) that encodes a mitochondrial protein regulator of energy balance and inhibitor of type 1 interferon, and other candidates for asthma (IL27) and obesity (APOB48R and SH2B1). Therefore, by affecting gene expression, the ~0.45 Mb 16p11.2 inversion provides a genetic basis for the joint susceptibility to asthma and obesity, with a population attributable risk of 39.7%. Differential mitochondrial function and basal energy balance of inversion alleles might also underlie the potential selection signature that led to their uneven distribution in world populations. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. NL Kids online

    NARCIS (Netherlands)

    Jos de Haan

    2010-01-01

    In Nederland, maar ook elders, verkennen jongeren intensief de mogelijkheden van internet. Deze verkenning begint overal op steeds jongere leeftijd. Jongeren krijgen te maken met zowel de positieve als de negatieve kanten van internet. Dit rapport bestudeert de aangeboden kansen en risico's van

  14. Effects of Long-Term Developmental Patterns of Adiposity on Levels of C-Reactive Protein and Fibrinogen among North-American Men and Women: The Spokane Heart Study

    Directory of Open Access Journals (Sweden)

    Trynke Hoekstra

    2014-06-01

    Full Text Available This study examined the heterogeneity in BMI development by identifying distinct developmental trajectories. These trajectories were further investigated by relating them to markers of low-grade inflammation later in life. Data from approximately 400 healthy volunteers participating in the Spokane Heart Study were collected in 2-year intervals, and four waves of data were available for the current analyses. Body weight was measured by BMI and low-grade inflammation by high-sensitivity C-reactive protein (CRP and fibrinogen. Up to date statistical techniques, i.e. latent class growth models, were used to analyse heterogeneity in body weight, and linear regressions were run to analyse possible associations between trajectories of body weight and CRP/fibrinogen levels. Six trajectories were identified (three stable, two increasing, and one decreasing which differed significantly on CRP/fibrinogen levels, highlighting the importance of weight trajectories. The differences were only partly explained by variations in lifestyle habits.

  15. Selected trace-element and synthetic-organic compound data for streambed sediment from the Clark Fork-Pend Oreille and Spokane River basins, Montana, Idaho, and Washington, 1998

    Science.gov (United States)

    Beckwith, Michael A.

    2002-01-01

    Streambed-sediment samples were collected at 22 sites during the summer of 1998 as part of the U.S. Geological Survey National Water-Quality Assessment Program. Sampling sites in the Clark Fork-Pend Oreille and Spokane River basins represented a wide range of environmental conditions including pristine mountain streams and large rivers affected by mining-related and urban activities. Samples were analyzed for 45 inorganic major and trace elements, 109 syn­thetic organic compounds, and carbon. This report pre­sents the selected results of streambed-sediment sampling from the Clark Fork-Pend Oreille and Spo­kane River basins in Montana, Idaho, and Washington.

  16. Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Rakonjac Marijana

    2016-01-01

    Full Text Available The 22q11.2 Deletion Syndrome (22q11.2DS, which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72 - 94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH and/or multiplex ligation-dependent probe amplification (MLPA. In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.

  17. MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Merico, Daniele; Costain, Gregory; Butcher, Nancy J.; Warnica, William; Ogura, Lucas; Alfred, Simon E.; Brzustowicz, Linda M.; Bassett, Anne S.

    2014-01-01

    The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with schizophrenia. The 22q11.2 deletion region overlaps gene DGCR8, encoding a subunit of the miRNA microprocessor complex. We identified miRNAs overlapped by the 22q11.2 microdeletion and for the first time investigated their predicted target genes, and those implicated by DGCR8, to identify targets that may be involved in the risk for schizophrenia. The 22q11.2 region encompasses seven validated or putative miRNA genes. Employing two standard prediction tools, we generated sets of predicted target genes. Functional enrichment profiles of the 22q11.2 region miRNA target genes suggested a role in neuronal processes and broader developmental pathways. We then constructed a protein interaction network of schizophrenia candidate genes and interaction partners relevant to brain function, independent of the 22q11.2 region miRNA mechanisms. We found that the predicted gene targets of the 22q11.2 deletion miRNAs, and targets of the genome-wide miRNAs predicted to be dysregulated by DGCR8 hemizygosity, were significantly represented in this schizophrenia network. The findings provide new insights into the pathway from 22q11.2 deletion to expression of schizophrenia, and suggest that hemizygosity of the 22q11.2 region may have downstream effects implicating genes elsewhere in the genome that are relevant to the general schizophrenia population. These data also provide further support for the notion that robust genetic findings in schizophrenia may converge on a reasonable number of final pathways. PMID:25484875

  18. Clinicopathologic Characteristics and Prognosis of Xp11.2 Translocation Renal Cell Carcinoma: Multicenter, Propensity Score Matching Analysis.

    Science.gov (United States)

    Choo, Min Soo; Jeong, Chang Wook; Song, Cheryn; Jeon, Hwang Gyun; Seo, Seong Il; Hong, Sung Kyu; Byun, Seok-Soo; Chung, Jin Soo; Hong, Sung-Hoo; Hwang, Eu Chang; Kim, Hyeon Hoe; Kwak, Cheol

    2017-10-01

    We evaluated the clinicopathologic characteristics and prognosis of Xp11.2 translocation (Xp11.2t) renal cell carcinoma (RCC) from a multicenter study and compare them with clear-cell RCC using a propensity score matching analysis. Between 2004 and 2013, 8384 consecutive patients from 7 institutions who were diagnosed with RCC were reviewed, and the pathologically confirmed Xp11.2t cases were enrolled. The oncological outcomes of Xp11.2t were compared with those of clear-cell RCC by selecting matched cases using 1:3 propensity score matching methods in a precollected clear-cell RCC data set from our hospital. The patients were divided into 2 subgroups on the basis of age of onset, either before (early) or after (late) 45 years old. Xp11.2t was found in 61 cases, corresponding to 0.72% of RCC cases for the 10 years. The mean age was 38.2 ± 19.4 years, and the mean tumor size was 6.2 ± 3.9 cm. The Xp11.2t cases were at more advanced stages and showed tendencies to involve lymph nodes at diagnosis. After the matching, there were no significant differences in recurrence-free and overall survival compared with clear-cell RCC. The age of incidence for Xp11.2t had a bimodal distribution, which was most common in the 30s and smaller peak in the 60s. Xp11.2t corresponded to a significantly worse prognosis for overall survival in late onset (after 45 years) subgroup (P = .038; hazard ratio, 3.199; 95% confidence interval, 1.065-9.609). This neoplasm has more aggressive clinicopathologic features at diagnosis. In older patients with onset age > 45 years, Xp11.2t showed a significantly worse prognosis than clear-cell RCC. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... deletion, there remains a large variation in the development and progression of psychiatric disorders, which suggests that alternative factors contribute to the pathogenesis. In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate...

  20. Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

    OpenAIRE

    Van Den Heuvel, E.; Botting, N.; Boudewijns, I.; Manders, E.; Swillen, A.; Zink, I.

    2017-01-01

    This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6–12). We re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. ...

  1. MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

    OpenAIRE

    Merico, Daniele; Costain, Gregory; Butcher, Nancy J.; Warnica, William; Ogura, Lucas; Alfred, Simon E.; Brzustowicz, Linda M.; Bassett, Anne S.

    2014-01-01

    The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with schizophrenia. The 22q11.2 deletion region overlaps gene DGCR8, encoding a subunit of the miRNA microprocessor complex. We identified miRNAs overlapped by the 22q11.2 microdeletion and for the first time investigated their predicted target genes...

  2. 22q11.2 microdeletion syndrome as a multidisciplinary problem

    Directory of Open Access Journals (Sweden)

    Marta Skoczyńska

    2017-12-01

    Full Text Available 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletion in the long arm of chromosome 22, and more rarely by microdeletion of the short arm of this chromosome or by a gene TBX1 point mutation. The consequences of these genotypic disorders are developmental anomalies of the third and fourth pharyngeal arches during the foetal life, which leads to abnormal development of the thymus, parathyroid glands and major cardiac vessels. The characteristic triad of symptoms includes a cardiac defect, hypocalcaemic tetany (hypoparathyroidism and immunodeficiency. The syndrome may also manifest as facial dysmorphia, palate defects, gastrointestinal abnormalities, urogenital malformations, autoimmune diseases and psychiatric disorders. Standard tests to diagnose this syndrome are molecular studies, such as fluorescence in situ hybridization, array comparative genomic hybridization and a type of polymerase chain reaction: multiplex ligationdependent probe amplification. The therapy of DiGeorge syndrome may include: calcium supplementation, surgical correction of cardiac and palate defects, treatment of immunodeficiency by injections of immunoglobulins, stem cell transplantation or, in rare cases, thymus transplantation. The management of DiGeorge syndrome requires a multidisciplinary approach. Early diagnosis and treatment significantly improve patient’s chances for normal functioning in adult life.

  3. Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome:

    OpenAIRE

    Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A.; Utagawa, Claudia Yamada

    2010-01-01

    A síndrome de deleção 22q11.2 (SD22q11.2) está associada à alta variabilidade fenotípica, abrangendo o espectro velocardiofacial/síndrome de DiGeorge. Manifestações autoimunes, endocrinológicas e de imunodeficiência vêm sendo relatadas associadas à síndrome. O objetivo deste estudo foi relatar um caso de SD22q11.2 associado à deficiência de IgA e à doença de Graves e rever a literatura visando verificar a frequência dessas alterações na SD22q11.2. Os distúrbios autoimunes, cada vez mais relac...

  4. Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?

    Science.gov (United States)

    Demily, Caroline; Franck, Nicolas

    2016-11-01

    The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with a widely underestimated prevalence between 1 per 2000 and 1 per 6000. Since childhood, patients with 22q11.2DS are described as having difficulties to initiate and maintain peer relationships. This lack of social skills has been linked to attention deficits/hyperactivity disorder, anxiety and depression. A high incidence of psychosis and positive symptoms is observed in patients with 22q11.2DS and remains correlated with poor social functioning, anxiety and depressive symptoms. Because 22q11.2DS and schizophrenia share several major clinical features, 22q11.2DS is sometimes considered as a genetic model for schizophrenia. Surprisingly, almost no study suggests the use of cognitive and behavioral therapy (CBT) in this indication. We reviewed what should be learned from schizophrenia to develop specific intervention for 22q11.2DS. In our opinion, the first step of CBT approach in 22q11.2DS with psychotic symptoms is to identify precisely which tools can be used among the already available ones. Cognitive behavioral therapy (CBT) targets integrated disorders, i.e. reasoning biases and behavior disorders. In 22q11.2DS, CBT-targeted behavior disorders may take the form of social avoidance and withdrawal or, in the contrary, a more unusual disinhibition and aggressiveness. In our experience, other negative symptoms observed in 22q11.2DS, such as motivation deficit or anhedonia, may also be reduced by CBT. Controlled trials have been studying the benefits of CBT in schizophrenia and several meta-analyses proved its effectiveness. Therefore, it is legitimate to propose this tool in 22q11.2DS, considering symptoms similarities. Overall, CBT is the most effective psychosocial intervention on psychotic symptoms and remains a relevant complement to pharmacological treatments such as antipsychotics. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  5. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

    DEFF Research Database (Denmark)

    D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan

    2016-01-01

    Importance: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). Objectives: To characterize the effects of the 16p11.2 duplication on cognitive...... subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits....

  6. The clinical presentation of attention deficit‐hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome

    Science.gov (United States)

    Martin, Joanna; Thapar, Anita; Owen, Michael J.

    2015-01-01

    Background: Although attention deficit‐hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Methods: Forty‐four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent‐report research diagnostic instruments. Results: There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ2 = 18.2, P ADHD inattentive subtype (χ2 = 114.76, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. Conclusions: The clinical presentation of ADHD and patterns of co‐morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under‐recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:26400629

  7. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

    OpenAIRE

    Dastan, Jila; Chijiwa, Chieko; Tang, Flamingo; Martell, Sally; Qiao, Ying; Rajcan-Separovic, Evica; Lewis, M. E. Suzanne

    2016-01-01

    Background The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. Case presentation In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability...

  8. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.

    Science.gov (United States)

    Wu, Dandan; Chen, Yang; Xu, Chen; Wang, Ke; Wang, Huijun; Zheng, Fengyun; Ma, Duan; Wang, Guomin

    2013-01-01

    Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes. However, the correlations between CNVs and phenotypes remain ambiguous. This study aims to analyze the types and sizes of CNVs in VCFS patients, to define whether correlations exist between CNVs and clinical manifestations in Chinese VCFS patients. In total, 55 clinically suspected Chinese VCFS patients and 100 normal controls were detected by multiplex ligation-dependent probe amplification (MLPA). The data from MLPA and all the detailed clinical features of the objects were documented and analyzed. A total of 44 patients (80.0%) were diagnosed with CNVs on 22q11.2. Among them, 43 (78.2%) presented with 22q11.2 heterozygous deletions, of whom 40 (93.0%) had typical 3-Mb deletion, and 3 (7.0%) exhibited proximal 1.5-Mb deletion; no patient was found with atypical deletion on 22q11.2. One patient (1.8%) presented with a 3-Mb duplication mapping to the typical 3-Mb region on 22q11.2, while none of the chromosomal abnormalities in the MLPA kit were found in the other 11 patients and 100 normal controls. All the 43 patients with 22q11.2 deletions displayed characteristic face and palatal anomalies; 37 of them (86.0%) had cognitive or behavioral disorders, and 23 (53.5%) suffered from immune deficiencies; 10 patients (23.3%) manifested congenital heart diseases. Interestingly, all patients with the characteristic face had 22q11.2 heterozygous deletions, but no difference in phenotypic spectrum was observed between 3-Mb and 1.5-Mb deletions. Our data suggest that the characteristic face can be used as a key indicator for direct diagnosis of 22q11.2 deletions in Chinese VCFS patients.

  9. Developmental Course of Conversational Behaviour of Children with 22q11.2 Deletion Syndrome and Williams Syndrome

    Science.gov (United States)

    Van Den Heuvel, Ellen; Botting, Nicola; Boudewijns, Inge; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-01-01

    This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7-13) and Williams syndrome (WS, n = 8, ages 6-12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid…

  10. Hyperfine structure of the metastable p-barHe+ atom revealed by a laser-induced (n,l) = (37,35) → (38,34) transition

    International Nuclear Information System (INIS)

    Widmann, E.; Eades, J.; Yamazaki, T.

    1996-11-01

    A precise scan of the previously discovered laser-induced transition (n,l) = (37,35) → (38,34) in p-barHe + revealed a doublet structure with a separation of Δν HF = 1.70 ± 0.05 GHz. This new type of 'hyperfine' splitting is ascribed to the interaction of the antiproton orbital angular momentum and the electron spin. (author)

  11. A single low dose of Fe ions can cause long-term biological responses in NL20 human bronchial epithelial cells

    Energy Technology Data Exchange (ETDEWEB)

    Cao, Qianlin; Wang, Jingdong; Cao, Jianping; Yang, Hongying [Medical College of Soochow University/Collaborative Innovation Center of Radiation Medicine of Jiangsu Higher Education Institutions, School of Radiation Medicine and Protection, Suzhou, Jiangsu (China); Liu, Wei [Soochow University, Department of Radiotherapy and Oncology, Second Affiliated Hospital, Suzhou, Jiangsu (China)

    2018-03-15

    Space radiation cancer risk may be a potential obstacle for long-duration spaceflight. Among all types of cancer space radiation may induce, lung cancer has been estimated to be the largest potential risk. Although previous animal study has shown that Fe ions, the most important contributor to the total dose equivalent of space radiation, induced a higher incidence of lung tumorigenesis per dose than X-rays, the underlying mechanisms at cellular level remained unclear. Therefore, in the present study, we investigated long-term biological changes in NL20 human bronchial epithelial cells after exposure to Fe ion or X-ray irradiation. We found that compared with sham control, the progeny of NL20 cells irradiated with 0.1 Gy of Fe ions showed slightly increased micronucleus formation, significantly decreased cell proliferation, disturbed cell cycle distribution, and obviously elevated intracellular ROS levels accompanied by reduced SOD1 and SOD2 expression, but the progeny of NL20 cells irradiated with 0.9 Gy of X-rays did not show any significant changes. More importantly, Fe ion exposure caused much greater soft-agar colony formation than X-rays did in the progeny of irradiated NL20 cells, clearly suggesting higher cell transformation potential of Fe ions compared with X-rays. These data may shed the light on the potential lung tumorigenesis risk from Fe ion exposure. In addition, ATM inhibition by Ku55933 reversed some of the changes in the progeny of Fe ion-irradiated cells but not others such as soft-agar colony formation, suggesting complex processes from DNA damage to carcinogenesis. These data indicate that even a single low dose of Fe ions can induce long-term biological responses such as cell transformation, etc., suggesting unignorable health risk from space radiation to astronauts. (orig.)

  12. Children's grammatical categories of verb and noun: a comparative look at children with specific language impairment (SLI) and normal language (NL).

    Science.gov (United States)

    Skipp, Amy; Windfuhr, Kirsten L; Conti-Ramsden, Gina

    2002-01-01

    The study investigated the development of grammatical categories (noun and verb) in young language learners. Twenty-eight children with specific language impairment (SLI) with a mean language age of 35 months and 28 children with normal language (NL) with a mean language age of 34 months were exposed to four novel verbs and four novel nouns during 10 experimental child-directed play sessions. The lexical items were modelled with four experimentally controlled argument structures. Both groups of children showed little productivity with syntactic marking of arguments in the novel verb conditions. Thus, both groups of children mostly followed the surface structure of the model presented to them, regardless of the argument they were trying to express. Therefore, there was little evidence of verb-general processes. In contrast, both groups used nouns in semantic roles that had not been modelled for them. Importantly, however, children with SLI still appeared to be more input dependent than NL children. This suggests that children with NL were working with a robust noun schema, whereas children with SLI were not. Taken together, the findings suggest that neither group of children had a grammatical category of verb, but demonstrated a general knowledge of the grammatical category of noun. These findings are discussed in relation to current theories of normal and impaired language development.

  13. Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weinberger, Ronnie; Yi, James; Calkins, Monica; Guri, Yael; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Ruparel, Kosha; Carmel, Miri; Michaelovsky, Elena; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

    2016-10-01

    The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS). Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD, n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

  14. Westinghouse-GOTHIC distributed parameter modelling for HDR test E11.2

    International Nuclear Information System (INIS)

    Narula, J.S.; Woodcock, J.

    1994-01-01

    The Westinghouse-GOTHIC (WGOTHIC) code is a sophisticated mathematical computer code designed specifically for the thermal hydraulic analysis of nuclear power plant containment and auxiliary buildings. The code is capable of sophisticated flow analysis via the solution of mass, momentum, and energy conservation equations. Westinghouse has investigated the use of subdivided noding to model the flow patterns of hydrogen following its release into a containment atmosphere. For the investigation, several simple models were constructed to represent a scale similar to the German HDR containment. The calculational models were simplified to test the basic capability of the plume modeling methods to predict stratification while minimizing the number of parameters. A large empty volume was modeled, with the same volume and height as HDR. A scenario was selected that would be expected to stably stratify, and the effects of noding on the prediction of stratification was studied. A single phase hot gas was injected into the volume at a height similar to that of HDR test E11.2, and there were no heat sinks modeled. Helium was released into the calculational models, and the resulting flow patterns were judged relative to the expected results. For each model, only the number of subdivisions within the containment volume was varied. The results of the investigation of noding schemes has provided evidence of the capability of subdivided (distributed parameter) noding. The results also showed that highly inaccurate flow patterns could be obtained by using an insufficient number of subdivided nodes. This presents a significant challenge to the containment analyst, who must weigh the benefits of increased noding with the penalties the noding may incur on computational efficiency. Clearly, however, an incorrect noding choice may yield erroneous results even if great care has been taken in modeling accurately all other characteristics of containments. (author). 9 refs., 9 figs

  15. Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.

    Directory of Open Access Journals (Sweden)

    Jennifer C Fuchs

    Full Text Available 22q11.2 Deletion Syndrome (22q11DS arises from an interstitial chromosomal microdeletion encompassing at least 30 genes. This disorder is one of the most significant known cytogenetic risk factors for schizophrenia, and can also cause heart abnormalities, cognitive deficits, hearing difficulties, and a variety of other medical problems. The Df1/+ hemizygous knockout mouse, a model for human 22q11DS, recapitulates many of the deficits observed in the human syndrome including heart defects, impaired memory, and abnormal auditory sensorimotor gating. Here we show that Df1/+ mice, like human 22q11DS patients, have substantial rates of hearing loss arising from chronic middle ear infection. Auditory brainstem response (ABR measurements revealed significant elevation of click-response thresholds in 48% of Df1/+ mice, often in only one ear. Anatomical and histological analysis of the middle ear demonstrated no gross structural abnormalities, but frequent signs of otitis media (OM, chronic inflammation of the middle ear, including excessive effusion and thickened mucosa. In mice for which both in vivo ABR thresholds and post mortem middle-ear histology were obtained, the severity of signs of OM correlated directly with the level of hearing impairment. These results suggest that abnormal auditory sensorimotor gating previously reported in mouse models of 22q11DS could arise from abnormalities in auditory processing. Furthermore, the findings indicate that Df1/+ mice are an excellent model for increased risk of OM in human 22q11DS patients. Given the frequently monaural nature of OM in Df1/+ mice, these animals could also be a powerful tool for investigating the interplay between genetic and environmental causes of OM.

  16. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.

    Directory of Open Access Journals (Sweden)

    Joel Frohlich

    Full Text Available Duplications of 15q11.2-q13.1 (Dup15q syndrome are highly penetrant for autism spectrum disorder (ASD. A distinct electrophysiological (EEG pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11, age-and-IQ-matched children with ASD (n = 10 and age-matched typically developing (TD children (n = 9 and computed relative power in 6 frequency bands for 9 regions of interest (ROIs. Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27 across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.In the first study, spontaneous beta1 (12-20 Hz and beta2 (20-30 Hz power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1. In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.

  17. Depleted and enriched uranium exposure quantified in former factory workers and local residents of NL Industries, Colonie, NY USA

    International Nuclear Information System (INIS)

    Arnason, John G.; Pellegri, Christine N.; Moore, June L.; Lewis-Michl, Elizabeth L.; Parsons, Patrick J.

    2016-01-01

    Background: Between 1958 and 1982, NL Industries manufactured components of enriched (EU) and depleted uranium (DU) at a factory in Colonie NY, USA. More than 5 metric tons of DU was deposited as microscopic DU oxide particles on the plant site and surrounding residential community. A prior study involving a small number of individuals (n=23) indicated some residents were exposed to DU and former workers to both DU and EU, most probably through inhalation of aerosol particles. Objectives: Our aim was to measure total uranium [U] and the uranium isotope ratios: 234 U/ 238 U; 235 U/ 238 U; and 236 U/ 238 U, in the urine of a cohort of former workers and nearby residents of the NLI factory, to characterize individual exposure to natural uranium (NU), DU, and EU more than 3 decades after production ceased. Methods: We conducted a biomonitoring study in a larger cohort of 32 former workers and 99 residents, who may have been exposed during its period of operation, by measuring Total U, NU, DU, and EU in urine using Sector Field Inductively Coupled Plasma - Mass Spectrometry (SF-ICP-MS). Results: Among workers, 84% were exposed to DU, 9% to EU and DU, and 6% to natural uranium (NU) only. For those exposed to DU, urinary isotopic and [U] compositions result from binary mixing of NU and the DU plant feedstock. Among residents, 8% show evidence of DU exposure, whereas none shows evidence of EU exposure. For residents, the [U] geometric mean is significantly below the value reported for NHANES. There is no significant difference in [U] between exposed and unexposed residents, suggesting that [U] alone is not a reliable indicator of exposure to DU in this group. Conclusions: Ninety four percent of workers tested showed evidence of exposure to DU, EU or both, and were still excreting DU and EU decades after leaving the workforce. The study demonstrates the advantage of measuring multiple isotopic ratios (e.g., 236 U/ 238 U and 235 U/ 238 U) over a single ratio ( 235 U/ 238 U

  18. Depleted and enriched uranium exposure quantified in former factory workers and local residents of NL Industries, Colonie, NY USA

    Energy Technology Data Exchange (ETDEWEB)

    Arnason, John G. [Laboratory of Inorganic and Nuclear Chemistry, Wadsworth Center, New York State Department of Health, P.O. Box 509, Albany, NY 12201-0509 (United States); Department of Environmental Health Sciences, School of Public Health, The University at Albany, P.O. Box 509, Albany, NY 12201-0509 (United States); Pellegri, Christine N. [Laboratory of Inorganic and Nuclear Chemistry, Wadsworth Center, New York State Department of Health, P.O. Box 509, Albany, NY 12201-0509 (United States); Moore, June L.; Lewis-Michl, Elizabeth L. [Bureau of Environmental and Occupational Epidemiology, Center for Environmental Health, New York State Department of Health, Albany, NY (United States); Parsons, Patrick J., E-mail: patrick.parsons@health.ny.gov [Laboratory of Inorganic and Nuclear Chemistry, Wadsworth Center, New York State Department of Health, P.O. Box 509, Albany, NY 12201-0509 (United States); Department of Environmental Health Sciences, School of Public Health, The University at Albany, P.O. Box 509, Albany, NY 12201-0509 (United States)

    2016-10-15

    Background: Between 1958 and 1982, NL Industries manufactured components of enriched (EU) and depleted uranium (DU) at a factory in Colonie NY, USA. More than 5 metric tons of DU was deposited as microscopic DU oxide particles on the plant site and surrounding residential community. A prior study involving a small number of individuals (n=23) indicated some residents were exposed to DU and former workers to both DU and EU, most probably through inhalation of aerosol particles. Objectives: Our aim was to measure total uranium [U] and the uranium isotope ratios: {sup 234}U/{sup 238}U; {sup 235}U/{sup 238}U; and {sup 236}U/{sup 238}U, in the urine of a cohort of former workers and nearby residents of the NLI factory, to characterize individual exposure to natural uranium (NU), DU, and EU more than 3 decades after production ceased. Methods: We conducted a biomonitoring study in a larger cohort of 32 former workers and 99 residents, who may have been exposed during its period of operation, by measuring Total U, NU, DU, and EU in urine using Sector Field Inductively Coupled Plasma - Mass Spectrometry (SF-ICP-MS). Results: Among workers, 84% were exposed to DU, 9% to EU and DU, and 6% to natural uranium (NU) only. For those exposed to DU, urinary isotopic and [U] compositions result from binary mixing of NU and the DU plant feedstock. Among residents, 8% show evidence of DU exposure, whereas none shows evidence of EU exposure. For residents, the [U] geometric mean is significantly below the value reported for NHANES. There is no significant difference in [U] between exposed and unexposed residents, suggesting that [U] alone is not a reliable indicator of exposure to DU in this group. Conclusions: Ninety four percent of workers tested showed evidence of exposure to DU, EU or both, and were still excreting DU and EU decades after leaving the workforce. The study demonstrates the advantage of measuring multiple isotopic ratios (e.g., {sup 236}U/{sup 238}U and {sup 235}U

  19. Osteocalcin Is Not Associated with the Risk of Type 2 Diabetes: Findings from the EPIC-NL Study.

    Directory of Open Access Journals (Sweden)

    Sabine R Zwakenberg

    Full Text Available To investigate whether total osteocalcin (tOC, uncarboxylated osteocalcin (ucOC and percentage of uncarboxylated osteocalcin (%ucOC are associated with the risk of type 2 diabetes.This nested case control study included 1,635 participants, 833 incident diabetes cases and 802 non-diabetic control participants, aged 21-70 years from the EPIC-NL cohort. Baseline concentrations of tOC, ucOC and %ucOC were assessed. During 10 years of follow-up, diabetes cases were self-reported and verified against information from general practitioners or pharmacists. The association between the different forms of osteocalcin and diabetes risk was assessed with logistic regression adjusted for diabetes risk factors (waist circumference, age, sex, cohort, smoking status, family history of diabetes, hypertension, alcohol intake, physical activity and education and dietary factors (total energy intake and energy adjusted intake of fat, fiber, protein and calcium.TOC concentration was not associated with diabetes risk, with an odds ratio (OR of 0.97 (0.91-1.03 for each ng/ml increment after adjustment for diabetes risk factors and dietary factors. No association between ucOC and %ucOC and the risk of diabetes was observed either. In sex stratified analyses (P interaction = 0.07, higher %ucOC tended to be associated with an increased risk of type 2 diabetes in a multivariable model in women (OR 1.05 for each increment of 5% ucOC (1.00-1.11, Ptrend = 0.08, but not in men (OR 0.96 for each increment of 5% ucOC (0.88-1.04. When waist circumference was replaced by body mass index, none of the osteocalcin forms were associated with the risk of type 2 diabetes in the final model among both women and men.Available evidence suggests that tOC, ucOC and %ucOC are each not associated with the risk of type 2 diabetes. However, more large-scale cohort studies are needed to clarify the presence of any association between the different forms of osteocalcin and the risk of type 2

  20. Technical principles underlying limit values for release of substances for the percolation test TS3: comparison DE and NL

    Energy Technology Data Exchange (ETDEWEB)

    Van Zomeren, A.; Dijkstra, J.J. [ECN Environment and Energy Engineering, Petten (Netherlands); Susset, B. [Consulting Office SiWaP (Germany)

    2013-10-15

    Within CEN TC 351 WG 1, standardized, horizontal test methods are developed to assess the release (leaching) of dangerous substances from construction as defined in ER3 of the CPD. For granular materials TS 3, a horizontal up-flow percolation test, was further developed by CEN TC 351 WG1 and will enter the validation phase in 2013. In CEN TC 351 WG1, there are still discussions regarding the sample preparation and some test conditions. Currently, two options for sample preparation and test conditions are specified. Controversy between DE and NL regarding sample preparation and test conditions and the need for two separate options in the TS 3 percolation test are possibly for a part caused by different approaches for risk assessment in the Netherlands and in Germany and the resulting regulatory concepts. One important reason for this is, that in soil and groundwater regulations the test method and the impact assessment method are systematically linked together but the impact assessment methods and lab methods in both countries are different. The discussions in CEN TC 351 WG 1 show that there is a need to have a better mutual understanding of the relation between test method and impact assessment on the one hand and a clear overview of differences in impact assessment approaches of each country on the other hand. The aim of this project is to explain and compare the assumptions, boundary conditions and conventions of the impact assessment approach that are implemented in the upcoming German Recycling Degree and in the Soil Quality Degree of the Netherlands. Ultimately, a better understanding of the impact assessment approaches provides a basis for further discussion in WG1 to agree on only one option for the percolation test conditions. The following report is prepared by the contractors of Germany and Netherlands together to compare the two country-specific concepts. This report summarizes and explains the presentation given on the 25th of April at TC 351 WG1 in

  1. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    International Nuclear Information System (INIS)

    Grassi, Marcília S.; Jacob, Cristina M. A.; Kulikowski, Leslie D.; Pastorino, Antonio C.; Dutra, Roberta L.; Miura, Nana; Jatene, Marcelo B.; Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda

    2014-01-01

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients

  2. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Energy Technology Data Exchange (ETDEWEB)

    Grassi, Marcília S., E-mail: marcilia.grassi@hc.fm.usp.br; Jacob, Cristina M. A. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Kulikowski, Leslie D. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Pastorino, Antonio C. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Dutra, Roberta L. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Miura, Nana; Jatene, Marcelo B. [Instituto do Coração - HC-FMUSP, São Paulo, SP (Brazil); Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil)

    2014-11-15

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  3. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Directory of Open Access Journals (Sweden)

    Marcília S. Grassi

    2014-11-01

    Full Text Available Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS in patients with congenital heart disease (CHD. Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18 and/or MLPA (n = 42, in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%. Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60% and/or elongated nose (53.3%, narrow palpebral fissure (50%, dysplastic, overfolded ears (48.3%, thin lips (41.6%, elongated fingers (38.3% and short stature (36.6%. Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  4. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Bassett, Anne S; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; van Amelsvoort, Therese; McDonald-McGinn, Donna; Gur, Raquel E; Swillen, Ann; Van den Bree, Marianne; Murphy, Kieran; Gothelf, Doron; Bearden, Carrie E; Eliez, Stephan; Kates, Wendy; Philip, Nicole; Sashi, Vandana; Campbell, Linda; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M; Simon, Tony; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R; Owen, Michael; Murphy, Clodagh; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J; Scherer, Stephen W; Emanuel, Beverly S; Guo, Tingwei; Morrow, Bernice E; Marshall, Christian R

    2017-11-01

    Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia. Rare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci. The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.

  5. Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Kelley, L; Sanders, A F P; Beaton, E A

    2016-12-01

    Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25-30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7-16 years with (n=11) and without (n=16) 22q11.2DS in relation to parent reports of children's anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS.

  6. The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Niarchou, Maria; Martin, Joanna; Thapar, Anita; Owen, Michael J; van den Bree, Marianne B M

    2015-12-01

    Although attention deficit-hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Forty-four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent-report research diagnostic instruments. There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ(2)  = 18.2, P ADHD inattentive subtype (χ(2)  = 114.76, P hyperactive-impulsive symptoms compared to the clinical group (z = 8.43, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P disorder (χ(2)  = 4.56, P = 0.03) in relation to the clinical group. Two percent of the 22q11.2 DS ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. The clinical presentation of ADHD and patterns of co-morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under-recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 Wiley Periodicals, Inc.

  7. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

    Science.gov (United States)

    Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Cardinaux, Annie; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Kanwisher, Nancy

    2016-02-01

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

  8. 22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.

    Science.gov (United States)

    Mercer-Rosa, Laura; Paridon, Stephen M; Fogel, Mark A; Rychik, Jack; Tanel, Ronn E; Zhao, Huaqing; Zhang, Xuemei; Yang, Wei; Shults, Justine; Goldmuntz, Elizabeth

    2015-02-01

    Patients with repaired tetralogy of Fallot experience variable outcomes for reasons that are incompletely understood. We hypothesize that genetic variants contribute to this variability. We sought to investigate the association of 22q11.2 deletion status with clinical outcome in patients with repaired tetralogy of Fallot. We performed a cross-sectional study of tetralogy of Fallot subjects who were tested for 22q11.2 deletion, and underwent cardiac magnetic resonance, exercise stress test, and review of medical history. We studied 165 subjects (12.3±3.1 years), of which 30 (18%) had 22q11.2 deletion syndrome (22q11.2DS). Overall, by cardiac magnetic resonance the right ventricular ejection fraction was 60±8%, pulmonary regurgitant fraction was 34±17%, and right ventricular end-diastolic volume was 114±39 cc/m(2). On exercise stress test, maximum oxygen consumption was 76±16% predicted. Despite comparable right ventricular function and pulmonary regurgitant fraction, on exercise stress test the 22q11.2DS had significantly lower percent predicted: forced vital capacity (61.5±16 versus 80.5±14; Ptetralogy of Fallot. These findings may provide avenues for intervention to improve outcomes, and should be re-evaluated longitudinally because these associations may become more pronounced with time. © 2015 American Heart Association, Inc.

  9. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... with mental disorder later in life. DNA methylation was measured genome-wide from neonatal dried blood spots in a cohort of 164 individuals with 22q11.2DS, including 48 individuals diagnosed with a psychiatric disorder. Among several CpG sites with P-value...-98), in NOSIP (P-value=5.12 × 10-8) with disorders of psychological development (F80-89) and in SEMA4B (P-value=4.02 × 10-7) with schizophrenia spectrum disorders (F20-29). In conclusion, our study suggests an association of DNA methylation differences at birth with development of mental disorder later in life...

  10. Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement

    Science.gov (United States)

    Bien-Willner, Gabriel A.; López-Terrada, Dolores; Bhattacharjee, Meena B.; Patel, Kayuri U.; Stankiewicz, Paweł; Lupski, James R.; Pfeifer, John D.; Perry, Arie

    2012-01-01

    Medulloblastoma is diagnosed histologically; treatment depends on staging and age of onset. Whereas clinical factors identify a standard- and a high-risk population, these findings cannot differentiate which standard-risk patients will relapse and die. Outcome is thought to be influenced by tumor subtype and molecular alterations. Poor prognosis has been associated with isochromosome (i)17q in some but not all studies. In most instances, molecular investigations document that i17q is not a true isochromosome but rather an isodicentric chromosome, idic(17)(p11.2), with rearrangement breakpoints mapping within the REPA/REPB region on 17p11.2. This study explores the clinical utility of testing for idic(17)(p11.2) rearrangements using an assay based on fluorescent in situ hybridization (FISH). This test was applied to 58 consecutive standard- and high-risk medulloblastomas with a 5-year minimum of clinical follow-up. The presence of i17q (ie, including cases not involving the common breakpoint), idic(17)(p11.2), and histologic subtype was correlated with clinical outcome. Overall survival (OS) and disease-free survival (DFS) were consistent with literature reports. Fourteen patients (25%) had i17q, with 10 (18%) involving the common isodicentric rearrangement. The presence of i17q was associated with a poor prognosis. OS and DFS were poor in all cases with anaplasia (4), unresectable disease (7), and metastases at presentation (10); however, patients with standard-risk tumors fared better. Of these 44 cases, tumors with idic(17)(p11.2) were associated with significantly worse patient outcomes and shorter mean DFS. FISH detection of idic(17)(p11.2) may be useful for risk stratification in standard-risk patients. The presence of this abnormal chromosome is associated with early recurrence of medulloblastoma. PMID:22573308

  11. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

    Science.gov (United States)

    Glass, I A; Stormer, P; Oei, P T; Hacking, E; Cotter, P D

    1998-01-01

    In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. Images PMID:9598728

  12. Dr. Hans Chang, Director, Physics Research Committee, Stichting voor Fundamenteel Onderzoek der Materie (FOM), Dr. Joris Van Enst, Head of Science Policy Division, Ministry of Education, Culture and S cience, Dr. Jan Bezemer, NL Delegate CERN, Netherlands

    CERN Multimedia

    Patrice Loiez

    1999-01-01

    Dr. Hans Chang, Director, Physics Research Committee, Stichting voor Fundamenteel Onderzoek der Materie (FOM), Dr. Joris Van Enst, Head of Science Policy Division, Ministry of Education, Culture and S cience, Dr. Jan Bezemer, NL Delegate CERN, Netherlands

  13. Neutralization of X4- and R5-tropic HIV-1 NL4-3 variants by HOCl-modified serum albumins

    Directory of Open Access Journals (Sweden)

    Schwalbe Birco

    2010-06-01

    Full Text Available Abstract Background Myeloperoxidase (MPO, an important element of the microbicidal activity of neutrophils, generates hypochlorous acid (HOCl from H2O2 and chloride, which is released into body fluids. Besides its direct microbicidal activity, HOCl can react with amino acid residues and HOCl-modified proteins can be detected in vivo. Findings This report is based on binding studies of HOCl-modified serum albumins to HIV-1 gp120 and three different neutralization assays using infectious virus. The binding studies were carried out by surface plasmon resonance spectroscopy and by standard ELISA techniques. Virus neutralization assays were carried out using HIV-1 NL4-3 virus and recombinant strains with CXCR4 and CCR5 coreceptor usage. Viral infection was monitored by a standard p24 or X-gal staining assay. Our data demonstrate that HOCl-modified mouse-, bovine- and human serum albumins all bind to the HIV-1 NL4-3 gp120 (LAV glycoprotein in contrast to non-modified albumin. Binding of HOCl-modified albumin to gp120 correlated to the blockade of CD4 as well as that of V3 loop specific monoclonal antibody binding. In neutralization experiments, HOCl-modified serum albumins inhibited replication and syncytium formation of the X4- and R5-tropic NL4-3 isolates in a dose dependent manner. Conclusions Our data indicate that HOCl-modified serum albumin veils the binding site for CD4 and the V3 loop on gp120. Such masking of the viral gp120/gp41 envelope complex might be a simple but promising strategy to inactivate HIV-1 and therefore prevent infection when HOCl-modified serum albumin is applied, for example, as a topical microbicide.

  14. Structural genomic abnormalities in autism and schizophrenia. With a focus on the 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Vorstman, J.A.S.

    2008-01-01

    The research presented in this thesis is centered around one question: What can we learn from the study of psychiatric phenotypes related to structural genomic abnormalities? In this thesis this subject is examined, with most studies focused on the clinical and genetic aspects of the 22q11.2

  15. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

    Energy Technology Data Exchange (ETDEWEB)

    Matsuoka, Rumiko; Takao, Atsuyoshi; Kimura, Misa; Kondo, Chisato; Ando, Masahiko; Momma, Kazuo; Imamura, Shin-ichiro [Heart Institute, Tokyo (Japan); Joh-o, Kunitaka [Welfare Pension Hospital, Kyushu (Japan); Ikeda, Kazuo [Sapporo Medical Univ. (Japan); Nishibatake, Makoto [Kagoshima Seikyo Hospital (Japan)

    1994-11-15

    The so-called {open_quotes}conotruncal anomaly face syndrome{close_quotes} (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet ring ventricle (DORV), and truncus arteriosus (TAC). CTAFS and the DiGeorge anomaly (DGA) have many similar phenotypic characteristics, suggesting that they share a common cause. In many cases DGA is known to be associated with monosomy for a region of chromosome 22q11.2. Fifty CTAFS patients and 10 DGA patients, 11 parents couples and 10 mothers of CTAFS patients, and 3 parents couples and 2 mothers of DGA patients were examined by fluorescent in situ hybridization (FISH) using the N25 (D22S75) DGCR probe (Oncor). Monosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mothers, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patients, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients who had CHD without CTAF or other know malformation syndromes were examined and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia (CATCH) resulting from 22q11.2 deletions. 20 refs., 3 figs., 2 tabs.

  16. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Vorstman, Jacob A S; Breetvelt, Elemi J.; Duijff, Sasja N.; Eliez, Stephan; Schneider, Maude; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Shashi, Vandana; Hooper, Stephen R.; Chow, Eva W C; Fung, Wai Lun Alan; Butcher, Nancy J.; Young, Donald A.; McDonald-McGinn, Donna M.; Vogels, Annick; Van Amelsvoort, Therese; Gothelf, Doron; Weinberger, Ronnie; Weizman, Abraham; Klaassen, Petra W J; Koops, Sanne; Kates, Wendy R.; Antshel, Kevin M.; Simon, Tony J.; Ousley, Opal Y.; Swillen, Ann; Gur, Raquel E.; Bearden, Carrie E.; Kahn, René S.; Bassett, Anne S.; Emanuel, Beverly S.; Zackai, Elaine H.; Kushan, Leila; Fremont, Wanda; Schoch, Kelly; Stoddard, Joel; Cubells, Joseph; Fu, Fiona; Campbell, Linda E.; Fritsch, Rosemarie; Vergaelen, Elfi; Neeleman, Marjolein; Boot, Erik; Debbané, Martin; Philip, Nicole; Green, Tamar; Van DenBree, Marianne B M; Murphy, Declan; Canyelles, Jaume Morey; Arango, Celso; Murphy, Kieran C.; Pontillo, Maria

    2015-01-01

    Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether

  17. Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

    Science.gov (United States)

    Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

    2008-01-01

    Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

  18. Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.

    Science.gov (United States)

    Richkind, Kathleen E; Mortimer, Errol; Mowery-Rushton, Patricia; Fraire, Armando

    2002-09-01

    We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.

  19. Eye Gaze During Face Processing in Children and Adolescents with 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Glaser, Bronwyn; Debbane, Martin; Ottet, Marie-Christine; Vuilleumier, Patrik; Zesiger, Pascal; Antonarakis, Stylianos E.; Eliez, Stephan

    2010-01-01

    Objective: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic syndrome with high risk for the development of psychiatric disorder. There is interest in identifying reliable markers for measuring and monitoring socio-emotional impairments in 22q11DS during development. The current study investigated eye gaze as a potential marker during a…

  20. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications m...

  1. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

    DEFF Research Database (Denmark)

    Avila, Magali; Kirchhoff, Eva Maria; Marle, Nathalie

    2013-01-01

    We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridg...

  2. Associations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Thompson, Carlie A; Karelis, Jason; Middleton, Frank A; Gentile, Karen; Coman, Ioana L; Radoeva, Petya D; Mehta, Rashi; Fremont, Wanda P; Antshel, Kevin M; Faraone, Stephen V; Kates, Wendy R

    2017-04-01

    22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer. Participants were genotyped for 10 SNPs in the COMT, DGCR8, GNB1L, PIK4CA, PRODH, RTN4R, and ZDHHC8 genes. All subjects were assessed for ultra high risk symptoms of psychosis. Allelic variation of the rs701428 SNP of RTN4R was significantly associated with volumetric differences in gray matter of the lingual gyrus and cuneus of the occipital lobe. Moreover, occipital gray matter volumes were robustly associated with ultra high risk symptoms of psychosis in the presence of the G allele of rs701428. Our results suggest that RTN4R, a relatively under-studied gene at the 22q11 locus, constitutes a susceptibility gene for psychosis in individuals with this syndrome through its alteration of the architecture of the brain. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  3. Memory in Intellectually Matched Groups of Young Participants with 22q11.2 Deletion Syndrome and Those with Schizophrenia

    Science.gov (United States)

    Kravariti, Eugenia; Jacobson, Clare; Morris, Robin; Frangou, Sophia; Murray, Robin M.; Tsakanikos, Elias; Habel, Alex; Shearer, Jo

    2010-01-01

    The 22q11.2 deletion syndrome (22qDS) and schizophrenia have genetic and neuropsychological similarities, but are likely to differ in memory profile. Confirming differences in memory function between the two disorders, and identifying their genetic determinants, can help to define genetic subtypes in both syndromes, identify genetic risk factors…

  4. Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Midbari Kufert, Yael; Nachmani, Ariela; Nativ, Einat; Weizman, Abraham; Gothelf, Doron

    2016-12-01

    In this study, we report the developmental, physical and psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS) in a large Israeli cohort, and search for a possible association between preterm birth and the risk for psychotic disorders. The study population consisted of 128 individuals with 22q11.2DS (77 male, 51 female), aged 1-55 years (mean ± SD 12.9 ± 11.0). All subjects underwent a comprehensive medical evaluation. All subjects older than 5 years (n = 104) were also evaluated psychiatrically. Overall, we found rates of physical manifestations similar to those previously reported in the literature. Psychiatric disorders were very common among our study population, with psychotic disorders occurring in 16.3 % of the psychiatrically evaluated population. We found an association between the presence of psychotic disorders and preterm birth. Our results replicate and extend the findings of a previous work and suggest that the evolution of psychosis in 22q11.2DS is a neurodevelopmental process with early obstetric and medical precursors.

  5. Kur’an’a Göre Üstünlük Duygusunun Düşünce ve Davranışlara Etkileri

    Directory of Open Access Journals (Sweden)

    Harun Savut

    2015-06-01

    Full Text Available Üstünlük duygusu insanın tüm davranışlarını etkisi altına alan, düşünce ve davranışlarda sapmalara sebep olan bir tavırdır. Doğruyu kendisini merkeze koyarak değerlendiren insanın tüm kutsalı yine kendisi olur. Şayet çevredekiler bu kutsalı onaylarsa kabul edilir ve değer görürler. Aksinin söz konusu olduğu durumlarda ise karşı durulması gereken düşman şeklinde algılanırlar. Bu ise akli melekelerin önünde set oluşturan, doğru düşünmeyi negatif yönde etkileyen, bu sebeple de yanlışları tetikleyen bir durumdur. Bunun neticesinde hakkın kabulü zorlaşır, hatta imkansız bir hal alır. İnsanı kendi algısı ile çelişen gerçekleri, doğruları inkara sürükler. Benlik kaynaklı bu savrulma küfür ve şirkin kapılarını açar. Bu makalede üstünlük hissinin yol açtığı algı ve düşünme hatalarıyla tebarüz eden kişilerin düşüncelerinde ortaya çıkan savrulmalar, yanılsamalar analiz edilmiştir. Üstünlük algısının gerekçelendirilmesinde kişi veya toplumun sahip olduğu imkanların rolü değerlendirilmiştir. Üstünlük hissinin neden olduğu tahammülsüzlük ve algı kapanması üzerinde durulmuştur.

  6. Primary structure of segment 7 of the RNA of the influenza virus A/USSR/90/77 (HlNl)

    International Nuclear Information System (INIS)

    Samokhvalov, E.I.; Karginov, V.A.; Chizhikov, V.E.; Blinov, V.M.; Yuferov, V.P.; Vasilenko, S.K.; Uryvaev, L.V.; Zhdanov, V.M.

    1986-01-01

    The nucleotide sequence of segment 7 of the RNA of the influenza virus A/USSR/90/77 (HlNl) has been determined, and an analysis has been given of the nucleotide substitutions in comparison with known primary structures of segment 7 of other strains of the influenza virus. A hypothetical model of the secondary structure of segment 7 of the RNA of the influenza virus and a direct repeat both at the nucleotide level and at the amino acid level found in the center of the M 1 protein are discussed

  7. Individuals with 22q11.2 Deletion Syndrome Are Impaired at Explicit, but Not Implicit, Discrimination of Local Forms Embedded in Global Structures

    Science.gov (United States)

    Giersch, Anne; Glaser, Bronwyn; Pasca, Catherine; Chabloz, Mélanie; Debbané, Martin; Eliez, Stephan

    2014-01-01

    Individuals with 22q11.2 deletion syndrome (22q11.2DS) are impaired at exploring visual information in space; however, not much is known about visual form discrimination in the syndrome. Thirty-five individuals with 22q11.2DS and 41 controls completed a form discrimination task with global forms made up of local elements. Affected individuals…

  8. Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

    Science.gov (United States)

    Weisman, Omri; Feldman, Ruth; Burg-Malki, Merav; Keren, Miri; Geva, Ronny; Diesendruck, Gil; Gothelf, Doron

    2015-01-01

    Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with…

  9. Characterization of the past and current duplication activities in the human 22q11.2 region

    Directory of Open Access Journals (Sweden)

    Morrow Bernice

    2011-01-01

    Full Text Available Abstract Background Segmental duplications (SDs on 22q11.2 (LCR22, serve as substrates for meiotic non-allelic homologous recombination (NAHR events resulting in several clinically significant genomic disorders. Results To understand the duplication activity leading to the complicated SD structure of this region, we have applied the A-Bruijn graph algorithm to decompose the 22q11.2 SDs to 523 fundamental duplication sequences, termed subunits. Cross-species syntenic analysis of primate genomes demonstrates that many of these LCR22 subunits emerged very recently, especially those implicated in human genomic disorders. Some subunits have expanded more actively than others, and young Alu SINEs, are associated much more frequently with duplicated sequences that have undergone active expansion, confirming their role in mediating recombination events. Many copy number variations (CNVs exist on 22q11.2, some flanked by SDs. Interestingly, two chromosome breakpoints for 13 CNVs (mean length 65 kb are located in paralogous subunits, providing direct evidence that SD subunits could contribute to CNV formation. Sequence analysis of PACs or BACs identified extra CNVs, specifically, 10 insertions and 18 deletions within 22q11.2; four were more than 10 kb in size and most contained young AluYs at their breakpoints. Conclusions Our study indicates that AluYs are implicated in the past and current duplication events, and moreover suggests that DNA rearrangements in 22q11.2 genomic disorders perhaps do not occur randomly but involve both actively expanded duplication subunits and Alu elements.

  10. The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

    Science.gov (United States)

    Hippolyte, Loyse; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurélie; Martin-Brevet, Sandra; Ferrari, Carina; Conus, Philippe; Macé, Aurélien; Hadjikhani, Nouchine; Metspalu, Andres; Reigo, Anu; Kolk, Anneli; Männik, Katrin; Barker, Mandy; Isidor, Bertrand; Le Caignec, Cédric; Mignot, Cyril; Schneider, Laurence; Mottron, Laurent; Keren, Boris; David, Albert; Doco-Fenzy, Martine; Gérard, Marion; Bernier, Raphael; Goin-Kochel, Robin P; Hanson, Ellen; Green Snyder, LeeAnne; Ramus, Franck; Beckmann, Jacques S; Draganski, Bogdan; Reymond, Alexandre; Jacquemont, Sébastien

    2016-07-15

    Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported. This study investigates the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains assessed in 62 deletion carriers, 44 duplication carriers, and 71 intrafamilial control subjects. IQ is decreased in deletion and duplication carriers, but we demonstrate contrasting cognitive profiles in these reciprocal CNVs. Deletion carriers present with severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level. In contrast, for verbal memory and phonology, the data may suggest that duplication carriers outperform intrafamilial control subjects with the same IQ level. This finding is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder. Some domains, such as visuospatial and working memory, are unaffected by the 16p11.2 locus beyond the effect of decreased IQ. Neuroimaging analyses reveal that measures of inhibition covary with neuroanatomic structures previously identified as sensitive to 16p11.2 CNVs. The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies. Further research is warranted to replicate these findings and elucidate the molecular mechanisms modulating these cognitive performances. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  11. Clinical validation of three short forms of the Dutch Wechsler Memory Scale-Fourth Edition (WMS-IV-NL) in a mixed clinical sample.

    Science.gov (United States)

    Bouman, Zita; Hendriks, Marc P H; Van Der Veld, William M; Aldenkamp, Albert P; Kessels, Roy P C

    2016-06-01

    The reliability and validity of three short forms of the Dutch version of the Wechsler Memory Scale-Fourth Edition (WMS-IV-NL) were evaluated in a mixed clinical sample of 235 patients. The short forms were based on the WMS-IV Flexible Approach, that is, a 3-subtest combination (Older Adult Battery for Adults) and two 2-subtest combinations (Logical Memory and Visual Reproduction and Logical Memory and Designs), which can be used to estimate the Immediate, Delayed, Auditory and Visual Memory Indices. All short forms showed good reliability coefficients. As expected, for adults (16-69 years old) the 3-subtest short form was consistently more accurate (predictive accuracy ranged from 73% to 100%) than both 2-subtest short forms (range = 61%-80%). Furthermore, for older adults (65-90 years old), the predictive accuracy of the 2-subtest short form ranged from 75% to 100%. These results suggest that caution is warranted when using the WMS-IV-NL Flexible Approach short forms to estimate all four indices. © The Author(s) 2015.

  12. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    Science.gov (United States)

    Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  13. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

    Directory of Open Access Journals (Sweden)

    Anthony R Isles

    2016-05-01

    Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of

  14. Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 Deleción 22q11.2 en pacientes con defecto cardiaco conotruncal y fenotipo del síndrome de la deleción 22q11.2 22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype

    Directory of Open Access Journals (Sweden)

    Sintia Iole Nogueira Belangero

    2009-04-01

    Full Text Available FUNDAMENTO: A síndrome da deleção 22q11.2 é a mais freqüente síndrome de microdeleção humana. O fenótipo é altamente variável e caracterizado por defeito cardíaco conotruncal, dismorfias faciais, insuficiência velofaríngea, dificuldade de aprendizagem e retardo mental. OBJETIVO: O objetivo deste trabalho foi investigar a freqüência da deleção 22q11.2 em uma amostra brasileira de indivíduos portadores de cardiopatia conontrucal isolada e do fenótipo da síndrome da deleção 22q11.2. MÉTODOS: Vinte e nove pacientes foram estudados por meio de citogenética clássica, por hibridação in situ fluorescente (FISH e por técnicas moleculares. RESULTADOS: A análise citogenética por meio de bandamento G revelou cariótipo normal em todos os pacientes, com exceção de um que apresentou cariótipo 47,XX,+idic(22(q11.2. Com o uso de técnicas moleculares, a deleção foi observada em 25% dos pacientes, todos portadores do fenótipo da síndrome da deleção 22q11.2. Em nenhum dos casos, a deleção foi herdada dos pais. A freqüência da deleção 22q11.2 foi maior no grupo de pacientes portadores do espectro clínico da síndrome da deleção 22q11.2 do que no grupo de pacientes com cardiopatia conotruncal isolada. CONCLUSÃO: A investigação da presença da deleção e sua correlação com os dados clínicos dos pacientes podem auxiliar os pacientes e suas famílias a terem um melhor aconselhamento genético e um seguimento clínico mais adequado.FUNDAMENTO: El síndrome de la deleción 22q11.2 es el más frecuente síndrome de microdeleción humana. El fenotipo, altamente variable, se caracteriza por defecto cardiaco conotruncal, dismorfias faciales, insuficiencia velofaríngea, dificultad de aprendizaje y retardo mental. OBJETIVO: El objetivo de este trabajo fue investigar la frecuencia tanto de la deleción 22q11.2 en una muestra brasileña de individuos portadores de cardiopatía conotrucal aislada, como del fenotipo del s

  15. Systematic of signature inversion in (h11/2)p ⊗ (i13/2)n for odd–odd ...

    Indian Academy of Sciences (India)

    11. /2)p. ⊗. (i13. /2)n. }fo r rare earth s are rep o rted . Each b o x lists th e fo llowin g in fo rmatio n. : T o p row. : K. (observed),. Ic. (inversion),. M iddle row. : K and confi guratio n fro m systematic,. B otto m row. : low est observed spin and its energy in. keV . xxx denotes unknow n energy. C onfi gurations are abbrev iated as:p.

  16. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

    Directory of Open Access Journals (Sweden)

    Thomas Arbogast

    2016-02-01

    Full Text Available The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+ or a duplication (Dup/+ of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

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

    Science.gov (United States)

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

    2014-09-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2017-02-15

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

  19. Cortical Development Requires Mesodermal Expression of Tbx1, a Gene Haploinsufficient in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Flore, Gemma; Cioffi, Sara; Bilio, Marchesa; Illingworth, Elizabeth

    2017-03-01

    In mammals, proper temporal control of neurogenesis and neural migration during embryonic development ensures correct formation of the cerebral cortex. Changes in the distribution of cortical projection neurons and interneurons are associated with behavioral disorders and psychiatric diseases, including schizophrenia and autism, suggesting that disrupted cortical connectivity contributes to the brain pathology. TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS), a chromosomal deletion disorder characterized by a greatly increased risk for schizophrenia. We have previously shown that Tbx1 heterozygous mice have reduced prepulse inhibition, a behavioral abnormality that is associated with 22q11.2DS and nonsyndromic schizophrenia. Here, we show that loss of Tbx1 disrupts corticogenesis in mice by promoting premature neuronal differentiation in the medio-lateral embryonic cortex, which gives rise to the somatosensory cortex (S1). In addition, we found altered polarity in both radially migrating excitatory neurons and tangentially migrating inhibitory interneurons. Together, these abnormalities lead to altered lamination in the S1 at the terminal stages of corticogenesis in Tbx1 null mice and similar anomalies in Tbx1 heterozygous adult mice. Finally, we show that mesoderm-specific inactivation of Tbx1 is sufficient to recapitulate the brain phenotype indicating that Tbx1 exerts a cell nonautonomous role in cortical development from the mesoderm. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  20. INTERPRETING THE SUBTLE SPECTRAL VARIATIONS OF THE 11.2 AND 12.7 μ m POLYCYCLIC AROMATIC HYDROCARBON BANDS

    International Nuclear Information System (INIS)

    Shannon, M. J.; Stock, D. J.; Peeters, E.

    2016-01-01

    We report new properties of the 11 and 12.7 μ m emission complexes of polycyclic aromatic hydrocarbons (PAHs) by applying a Gaussian-based decomposition technique. Using high-resolution Spitzer Space Telescope data, we study in detail the spectral and spatial characteristics of the 11 and 12.7 μ m emission bands in maps of reflection nebulae NGC 7023 and NGC 2023 (north and south) and the star-forming region M17. Profile variations are observed in both the 11 and 12.7 μ m emission bands. We identify a neutral contribution to the traditional 11.0 μ m PAH band and a cationic contribution to the traditional 11.2 μ m band, the latter of which affects the PAH class of the 11.2 μ m emission in our sample. The peak variations of the 12.7 μ m complex are explained by the competition between two underlying blended components. The spatial distributions of these components link them to cations and neutrals. We conclude that the 12.7 μ m emission originates in both neutral and cationic PAHs, lending support to the use of the 12.7/11.2 intensity ratio as a charge proxy.

  1. INTERPRETING THE SUBTLE SPECTRAL VARIATIONS OF THE 11.2 AND 12.7 μ m POLYCYCLIC AROMATIC HYDROCARBON BANDS

    Energy Technology Data Exchange (ETDEWEB)

    Shannon, M. J.; Stock, D. J.; Peeters, E., E-mail: mshann3@uwo.ca [Department of Physics and Astronomy, University of Western Ontario, London, ON, N6A 3K7 (Canada)

    2016-06-20

    We report new properties of the 11 and 12.7 μ m emission complexes of polycyclic aromatic hydrocarbons (PAHs) by applying a Gaussian-based decomposition technique. Using high-resolution Spitzer Space Telescope data, we study in detail the spectral and spatial characteristics of the 11 and 12.7 μ m emission bands in maps of reflection nebulae NGC 7023 and NGC 2023 (north and south) and the star-forming region M17. Profile variations are observed in both the 11 and 12.7 μ m emission bands. We identify a neutral contribution to the traditional 11.0 μ m PAH band and a cationic contribution to the traditional 11.2 μ m band, the latter of which affects the PAH class of the 11.2 μ m emission in our sample. The peak variations of the 12.7 μ m complex are explained by the competition between two underlying blended components. The spatial distributions of these components link them to cations and neutrals. We conclude that the 12.7 μ m emission originates in both neutral and cationic PAHs, lending support to the use of the 12.7/11.2 intensity ratio as a charge proxy.

  2. Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

    Directory of Open Access Journals (Sweden)

    K. M. Usrey

    2014-01-01

    Full Text Available The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.

  3. Analysis of 22q11.2 deletions by FISH in a series of velocardiofacial syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Ravnan, J.B.; Golabi, M.; Lebo, R.V. [Univ. of California, San Francisco, CA (United States)

    1994-09-01

    Deletions in chromosome 22 band q11.2 have been associated with velocardiofacial (VCF or Shprintzen) syndrome and the DiGeorge anomaly. A study of VCF patients evaluated at the UCSF Medical Center was undertaken to correlate disease phenotype with presence or absence of a deletion. Patients referred for this study had at least two of the following: dysmorphic facial features, frequent ear infections or hearing loss, palate abnormalities, thymic hypoplasia, hypocalcemia, congenital heart defect, hypotonia, and growth or language delay. Fluorescence in situ hybridization (FISH) using the DiGeorge critical region probe N25 was used to classify patients according to the presence or absence of a deletion in 22q11.2, and the results were compared to clinical characteristics. We have completed studies on 58 patients with features of VCF. Twenty-one patients (36%) were found to have a deletion in 22q11.2 by FISH. A retrospective study of archived slides from 14 patients originally studied only by prometaphase GTG banding found six patients had a deletion detected by FISH; of these, only two had a microscopically visible chromosome deletion. Our study of 11 sets of parents of children with the deletion found two clinically affected mothers with the deletion, including one with three of three children clinically affected. A few patients who did not fit the classical VCF description had a 22q11.2 deletion detected by FISH. These included one patient with both cleft lip and palate, and another with developmental delay and typical facial features but no cardiac or palate abnormalities. Both patients with the DiGeorge anomaly as part of VCF had the deletion. On the other hand, a number of patients diagnosed clinically with classical VCF did not have a detectable deletion. This raises the question whether they represent a subset of patients with a defect of 22q11.2 not detected by the N25 probe, or whether they represent a phenocopy of VCF.

  4. Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

    2017-12-01

    Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017

  5. Beam-foil lifetime measurements for some 5d10 nl and 5d96s6p levels of Pb IV

    International Nuclear Information System (INIS)

    Pinnington, E.H.; Ansbacher, W.; Tauheed, A.; Kernahan, J.A.

    1991-01-01

    The beam-foil technique was used to measure the lifetimes of the 5d 10 5f, 5g, 6d, 6h, 7p, 7d, 8s and 5d 9 6s6p (2) 0 , (3) 0 , (6) 0 , (14) 0 , (17) 0 levels of Pb IV. Correlated decay-curve analyses were used to correct for the effects of cascading in the case of the 5d 10 5f, 5g, 6d, and 7p levels. The numerical Coulomb approximation was used to calculate comparison values for the 5d 10 nl levels. The need for a more rigorous calculation for specific levels is discussed. (12 refs., fig., tab.)

  6. HIV type-1 genotypic resistance profiles in vertically infected patients from Argentina reveal an association between K103N+L100I and L74V mutations.

    Science.gov (United States)

    Aulicino, Paula C; Rocco, Carlos A; Mecikovsky, Debora; Bologna, Rosa; Mangano, Andrea; Sen, Luisa

    2010-01-01

    Patterns and pathways of HIV type-1 (HIV-1) antiretroviral (ARV) drug resistance-associated mutations in clinical isolates are conditioned by ARV history and factors such as viral subtype and fitness. Our aim was to analyse the frequency and association of ARV drug resistance mutations in a group of long-term vertically infected patients from Argentina. Plasma samples from 71 patients (38 children and 33 adolescents) were collected for genotypic HIV-1 ARV resistance testing during the period between February 2006 and October 2008. Statistically significant pairwise associations between ARV resistance mutations in pol, as well as associations between mutations and drug exposure, were identified using Fisher's exact tests with Bonferroni and false discovery rate corrections. Phylogenetic analyses were performed for subtype assignment. In protease (PR), resistance-associated mutations M46I/L, I54M/L/V/A/S and V82A/F/T/S/M/I were associated with each other and with minor mutations at codons 10, 24 and 71. Mutations V82A/F/T/S/M/I were primarily selected by the administration of ritonavir (RTV) in an historical ARV regimen. In reverse transcriptase, thymidine analogue mutation (TAM)1 profile was more common than TAM2. The non-nucleoside K103N+L100I mutations were observed at high frequency (15.5%) and were significantly associated with the nucleoside mutation L74V in BF recombinants. Associations of mutations at PR sites reflect the frequent use of RTV at an early time in this group of patients and convergent resistance mechanisms driven by the high exposure to protease inhibitors, as well as local HIV-1 diversity. The results provide clinical evidence of a molecular interaction between K103N+L100I and L74V mutations at the reverse transcriptase gene in vivo, limiting the future use of second-generation non-nucleoside reverse transcriptase inhibitors such as etravirine.

  7. Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.

    Directory of Open Access Journals (Sweden)

    Yue Jiang

    Full Text Available BACKGROUND: Genome-wide association studies (GWAS have identified several breast cancer susceptibility loci, and one genetic variant, rs11249433, at 1p11.2 was reported to be associated with breast cancer in European populations. To explore the genetic variants in this region associated with breast cancer in Chinese women, we conducted a two-stage fine-mapping study with a total of 1792 breast cancer cases and 1867 controls. METHODOLOGY/PRINCIPAL FINDINGS: Seven single nucleotide polymorphisms (SNPs including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan® OpenArray™ Genotyping System for stage 1 samples (878 cases and 900 controls. In stage 2 (914 cases and 967 controls, three SNPs (rs2580520, rs4844616 and rs11249433 were further selected and genotyped for validation. The results showed that one SNP (rs2580520 located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model [Odds Ratio (OR  =  1.66, 95% confidence interval (CI  =  1.16-2.36 for stage 2 samples; OR  =  1.51, 95% CI  =  1.16-1.97 for combined samples, respectively]. However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92-1.57. CONCLUSIONS/SIGNIFICANCE: Genotypes of rs2580520 at 1p11.2 suggest that Chinese women may have different breast cancer susceptibility loci, which may contribute to the development of breast cancer in this population.

  8. A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Xiaojing Zheng

    Full Text Available Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer's disease (AD+P share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652 was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46% was similar to that reported previously in schizophrenia (0.46%. This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ, and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis.

  9. Benchmark of the HDR E11.2 containment hydrogen mixing experiment using the MAAP4 code

    International Nuclear Information System (INIS)

    Lee, Sung, Jin; Paik, Chan Y.; Henry, R.E.

    1997-01-01

    The MAAP4 code was benchmarked against the hydrogen mixing experiment in a full-size nuclear reactor containment. This particular experiment, designated as E11.2, simulated a small loss-of-coolant-accident steam blowdown into the containment followed by the release of a hydrogen-helium gas mixture. It also incorporated external spray cooling of the steel dome near the end of the transient. Specifically, the objective of this bench-mark was to demonstrate that MAAP4, using subnodal physics, can predict an observed gas stratification in the containment

  10. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  11. Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

    NARCIS (Netherlands)

    Egger, J.I.; Verhoeven, W.M.A.; Verbeeck, W.J.C.; Leeuw, N. de

    2014-01-01

    The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of

  12. Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

    NARCIS (Netherlands)

    J.I.M. Egger (Jos); W.M.A. Verhoeven (Wim); W. Verbeeck (Wim); N. de Leeuw (Nicole)

    2014-01-01

    textabstractThe 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2

  13. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study

    NARCIS (Netherlands)

    Campbell, Linda E.; Daly, Eileen; Toal, Fiona; Stevens, Angela; Azuma, Rayna; Catani, Marco; Ng, Virginia; van Amelsvoort, Therese; Chitnis, Xavier; Cutter, William; Murphy, Declan G. M.; Murphy, Kieran C.

    2006-01-01

    In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of

  14. A large de novo distal 16p11.2 deletion in a patient with normal intelligence: Evidence for a neuropsychological phenotype

    NARCIS (Netherlands)

    Egger, J.I.M.; Verhoeven, W.M.A.; Verbeeck, W.J.C.; Leeuw, N. de

    2014-01-01

    Objective: The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is often associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies and obesity. Usually, these phenotypes are related to a proximal 16p11.2

  15. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

    NARCIS (Netherlands)

    Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia; O'Reilly, Martin; Betts, Joshua A.; Hillman, Kristine M.; Kaufmann, Susanne; Beesley, Jonathan; Canisius, Sander; Hopper, John L.; Southey, Melissa C.; Tsimiklis, Helen; Apicella, Carmel; Schmidt, Marjanka K.; Broeks, Annegien; Hogervorst, Frans B.; van der Schoot, C. Ellen; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A.; Ruebner, Matthias; Ekici, Arif B.; Beckmann, Matthias W.; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Pharoah, Paul D. P.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Yang, Rongxi; Surowy, Harald; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E.; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; González-Neira, Anna; Benitez, Javier; Zamora, M. Pilar; Arias Perez, Jose Ignacio; Anton-Culver, Hoda; Neuhausen, Susan L.; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Ko, Yon-Dschun; Brüning, Thomas; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Dörk, Thilo; Bogdanova, Natalia V.; Helbig, Sonja; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Wu, Anna H.; Tseng, Chiu-Chen; van den Berg, David; Stram, Daniel O.; Lambrechts, Diether; Zhao, Hui; Weltens, Caroline; van Limbergen, Erik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Radice, Paolo; Peterlongo, Paolo; Barile, Monica; Capra, Fabio; Couch, Fergus J.; Olson, Janet E.; Hallberg, Emily; Vachon, Celine; Giles, Graham G.; Milne, Roger L.; McLean, Catriona; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; teo, Soo Hwang; Yip, Cheng Har; See, Mee-Hoong; Cornes, Belinda; Cheng, Ching-Yu; Ikram, M. Kamran; Kristensen, Vessela; Zheng, Wei; Halverson, Sandra L.; Shrubsole, Martha; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A. E. M.; Seynaeve, Caroline; van Asperen, Christi J.; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J.; Lissowska, Jolanta; Czene, Kamila; Klevebring, Daniel; Darabi, Hatef; Eriksson, Mikael; Hooning, Maartje J.; Hollestelle, Antoinette; Martens, John W. M.; Collée, J. Margriet; Hall, Per; Li, Jingmei; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cox, Angela; Cross, Simon S.; Reed, Malcolm W. R.; Blot, William; Signorello, Lisa B.; Cai, Qiuyin; Shah, Mitul; Ghoussaini, Maya; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K.; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Olswold, Curtis; Slager, Susan; Toland, Amanda E.; Yannoukakos, Drakoulis; Shen, Chen-Yang; Wu, Pei-Ei; Yu, Jyh-Cherng; Hou, Ming-Feng; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Pita, Guillermo; Alonso, M. Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Healey, Catherine S.; Brown, Melissa A.; Ponder, Bruce A. J.; Chenevix-Trench, Georgia; Thompson, Deborah J.; Edwards, Stacey L.; Easton, Douglas F.; Dunning, Alison M.; French, Juliet D.

    2015-01-01

    Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and

  16. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

    NARCIS (Netherlands)

    D.M. Glubb (Dylan); M. Maranian (Melanie); K. Michailidou (Kyriaki); K.A. Pooley (Karen); K.B. Meyer (Kerstin); S. Kar (Siddhartha); A.F.C. Carlebur; M. O'Reilly (Marian); J.A. Betts (Joshua); K.M. Hillman (Kristine); S. Kaufmann (Susanne); J. Beesley (Jonathan); S. Canisius (Sander); J.L. Hopper (John); M.C. Southey (Melissa); H. Tsimiklis (Helen); C. Apicella (Carmel); M.K. Schmidt (Marjanka); A. Broeks (Annegien); F.B.L. Hogervorst (Frans); C.E. van der Schoot (Ellen); K.R. Muir (K.); A. Lophatananon (Artitaya); S. Stewart-Brown (Sarah); P. Siriwanarangsan (Pornthep); P.A. Fasching (Peter); M. Ruebner (Matthias); A.B. Ekici (Arif); M.W. Beckmann (Matthias); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia); N. Johnson (Nichola); P.D.P. Pharoah (Paul D.P.); M.K. Bolla (Manjeet); Q. Wang (Qing); J. Dennis (Joe); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); B. Burwinkel (Barbara); F. Marme (Federick); R. Yang (Rongxi); H. Surowy (Harald); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); M. Sanchez (Marie); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune); H. Flyger (Henrik); A. González-Neira (Anna); J. Benítez (Javier); M.P. Zamora (Pilar); J.I. Arias Pérez (José Ignacio); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); H. Brenner (Hermann); A.K. Dieffenbach (Aida Karina); V. Arndt (Volker); C. Stegmaier (Christa); A. Meindl (Alfons); R.K. Schmutzler (Rita); H. Brauch (Hiltrud); Y.-D. Ko (Yon-Dschun); T. Brüning (Thomas); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); K. Matsuo (Keitaro); H. Ito (Hidemi); H. Iwata (Hisato); H. Tanaka (Hideo); T. Dörk (Thilo); N.V. Bogdanova (Natalia); S. Helbig (Sonja); A. Lindblom (Annika); S. Margolin (Sara); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); A.H. Wu (Anna H.); C.-C. Tseng (Chiu-Chen); D. Van Den Berg (David); D.O. Stram (Daniel O.); D. Lambrechts (Diether); H. Zhao (Hui); C. Weltens (Caroline); E. van Limbergen (Erik); J. Chang-Claude (Jenny); D. Flesch-Janys (Dieter); A. Rudolph (Anja); P. Seibold (Petra); P. Radice (Paolo); P. Peterlongo (Paolo); M. Barile (Monica); F. Capra (Fabio); F.J. Couch (Fergus); J.E. Olson (Janet); B. Hallberg (Boubou); C. Vachon (Celine); G.G. Giles (Graham); R.L. Milne (Roger); C.A. McLean (Catriona Ann); C.A. Haiman (Christopher); B.E. Henderson (Brian); F.R. Schumacher (Fredrick); L. Le Marchand (Loic); J. Simard (Jacques); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); S.-H. Teo (Soo-Hwang); C.H. Yip (Cheng Har); M.-H. See (Mee-Hoong); B.K. Cornes (Belinda); C-Y. Cheng (Ching-Yu); M.K. Ikram (Kamran); V. Kristensen (Vessela); W. Zheng (Wei); S.L. Halverson (Sandra L.); M. Shrubsole (Martha); J. Long (Jirong); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); S. Kauppila (Saila); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); S. Tchatchou (Sandrine); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); K. Czene (Kamila); D. Klevebring (Daniel); H. Darabi (Hatef); M. Eriksson (Mikael); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); J.W.M. Martens (John W. M.); J.M. Collée (Margriet); P. Hall (Per); J. Li (Jingmei); K. Humphreys (Keith); X.-O. Shu (Xiao-Ou); W. Lu (Wei); Y.-T. Gao (Yu-Tang); H. Cai (Hui); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); W.J. Blot (William); L.B. Signorello (Lisa B.); Q. Cai (Qiuyin); M. Shah (Mitul); M. Ghoussaini (Maya); D. Kang (Daehee); J.-Y. Choi (J.); S.K. Park (Sue); D-Y. Noh (Dong-Young); M. Hartman (Mikael); X. Miao; W.-Y. Lim (Wei-Yen); A. Tang (Anthony); U. Hamann (Ute); D. Torres (Diana); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska (Katarzyna); K. Durda (Katarzyna); S. Sangrajrang (Suleeporn); V. Gaborieau (Valerie); P. Brennan (Paul); J.D. McKay (James); C. Olswold (Curtis); S. Slager (Susan); A.E. Toland (Amanda); D. Yannoukakos (Drakoulis); C-Y. Shen (Chen-Yang); P.-E. Wu (Pei-Ei); J-C. Yu (Jyh-Cherng); M.-F. Hou (Ming-Feng); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Jones (Michael); G. Pita (Guillermo); M.R. Alonso (Rosario); N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); C. Baynes (Caroline); S. Ahmed (Shahana); S. Healey (Sue); M. Brown (Melissa); B.A.J. Ponder (Bruce A.J.); G. Chenevix-Trench (Georgia); D. Thompson (Deborah); S.L. Edwards (Stacey); D.F. Easton (Douglas); A.M. Dunning (Alison); J.D. French (Juliet)

    2015-01-01

    textabstractGenome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer

  17. Detection of radiation transitions between 4d9(D5/3,3/2)5s2nl and 4d105p(2P1/2,3/20)nl of self-ionized states of cadmium atom at electron-ion collisions

    International Nuclear Information System (INIS)

    Gomonaj, A.N.; Imre, A.I.

    2005-01-01

    Radiation transitions between 4d 9 ( 2 D 5/2,3/2 )5s 2 nl and 4d 10 5p( 2 P 1/2,3/2 0 )nl self-ionized states of Cd atom being dielectron satellites of λ325.0 nm (4d 9 5s 22 D 3/2 →4d 10 5p 2 P 1/2 0 ) and λ353.6 nm (4d 9 5s 22 D 3/2 → 4d 10 5p 2 P 3/2 0 ) laser lines of Cd + ion were detected for the first time at electron-ion collisions. One studied energy dependences of the effective cross sections of electron excitation of the satellite lines within 7-10 eV energy range. The effective cross sections of excitation of dielectron satellites constitutes ∼ 10 -17 cm 2 that is comparable with the efficiency of excitation of the laser lines [ru

  18. Osmaniye’de Günlük Toplam Güneş Işınım Ölçümleri

    Directory of Open Access Journals (Sweden)

    Muhittin ŞAHAN

    2015-11-01

    Full Text Available Özet: Bu çalışmada, güneşten gelen toplam ışınımı ölçmek amacıyla OKÜMERLAB (Osmaniye Korkut Ata Üniversitesi Merkezi Laboratuvarı, En: 37.04227 N; Boy:36.22134 E, Osmaniye/Türkiye binasının çatı katına yerleştirilen Eppley Black and White Pyranometer(Model 8-48 ölçüm cihazı kullanılmıştır. Bir yıl boyunca (Mayıs 2013 – Nisan 2014 dakikalık olarak milivolt cinsinden alınan veriler kişisel bir bilgisayar yardımıyla saatlik, günlük ve aylık olarak W/m2 cinsinden enerji birimine dönüştürülmüştür. Yatay yüzeye gelen toplam ışınım 1662322.88W/m2 olarak hesaplanmıştır. Günlük toplam global güneş ışınımının aylık ortalama değerleri 4755.43 W/m2 olarak ölçülmüştür. Ayrıca, günlük ortalama global güneş ışınımı 396.29 W/m2 olarak bulunmuştur. En yüksek toplam ışınım değerleri haziran ayında 528.33W/m2ölçülürken en düşük toplam değerleri sırasıyla 201.23 W/m2olarak aralık ayında ölçülmüştür. Anahtar kelimeler: Güneş Işınımı, toplam ışınım, Akdeniz bölgesi Daily Global Solar Radiation Measurements in Osmaniye Abstract: In this study, Eppley Black and White Pyranometer (Model 8-48 instrument located on the roof of OKUMERLAB (Central Laboratory of Osmaniye Korkut Ata University, Lat: 37.04227 N; Long: 36.22134 E, Osmaniye/Turkey was used to measure solar global radiation. The data received in minutes in terms of millivolts during one year period (May 2013 to April 2014 were converted to energy unit as hourly, daily and monthly in terms of W/m2 using a personal computer. Daily total global radiation on a horizontal surface was calculated as1662322.88 W/m2. Values of monthly average of daily global solar was measured as4755.43 W/m2. It was also found that the average daily total radiation wasas396.29 W/m2. While the highest global solar radiation was obtained in June to be 528.33W/m2, the lowest values were obtained in

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-04-15

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

  20. The hippocampi of children with chromosome 22q11.2 deletion syndrome have localized anterior alterations that predict severity of anxiety.

    Science.gov (United States)

    Scott, Julia A; Goodrich-Hunsaker, Naomi; Kalish, Kristopher; Lee, Aaron; Hunsaker, Michael R; Schumann, Cynthia M; Carmichael, Owen T; Simon, Tony J

    2016-04-01

    Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an elevated risk for schizophrenia, which increases with history of childhood anxiety. Altered hippocampal morphology is a common neuroanatomical feature of 22q11.2DS and idiopathic schizophrenia. Relating hippocampal structure in children with 22q11.2DS to anxiety and impaired cognitive ability could lead to hippocampus-based characterization of psychosis-proneness in this at-risk population. We measured hippocampal volume using a semiautomated approach on MRIs collected from typically developing children and children with 22q11.2DS. We then analyzed hippocampal morphology with Localized Components Analysis. We tested the modulating roles of diagnostic group, hippocampal volume, sex and age on local hippocampal shape components. Lastly, volume and shape components were tested as covariates of IQ and anxiety. We included 48 typically developing children and 69 children with 22q11.2DS in our study. Hippocampal volume was reduced bilaterally in children with 22q11.2DS, and these children showed greater variation in the shape of the anterior hippocampus than typically developing children. Children with 22q11.2DS had greater inward deformation of the anterior hippocampus than typically developing children. Greater inward deformation of the anterior hippocampus was associated with greater severity of anxiety, specifically fear of physical injury, within the 22q11.2DS group. Shape alterations are not specific to hippocampal subfields. Alterations in the structure of the anterior hippocampus likely affect function and may impact limbic circuitry. We suggest these alterations potentially contribute to anxiety symptoms in individuals with 22q11.2DS through modulatory pathways. Altered hippocampal morphology may be uniquely linked to anxiety risk factors for schizophrenia, which could be a powerful neuroanatomical marker of schizophrenia risk and hence protection.

  1. Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

    Science.gov (United States)

    Yang, Jianying; Chandrasekharappa, Settara C; Vilboux, Thierry; Smith, Ann C M; Peterson, Erik J

    2014-08-01

    Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including systemic lupus erythematosus, antiphospholipid antibody syndrome, and autoimmune hepatitis. Molecular analysis using single-nucleotide polymorphism array confirmed a de novo 3.8-Mb deletion (breakpoints, chr17: 16,660,721-20,417,975), resulting in haploinsufficiency for TACI (transmembrane activator and CAML interactor). Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena.

  2. Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.

    Directory of Open Access Journals (Sweden)

    Daniela Brunner

    Full Text Available Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development for autism is the lack of robust behavioral signatures predictive of clinical efficacy. To address this issue, we further characterized, in a uniform and rigorous way, mouse models of autism that are of interest because of their construct validity and wide availability to the scientific community. We implemented a broad behavioral battery that included but was not restricted to core autism domains, with the goal of identifying robust, reliable phenotypes amenable for further testing. Here we describe comprehensive findings from two known mouse models of autism, obtained at different developmental stages, using a systematic behavioral test battery combining standard tests as well as novel, quantitative, computer-vision based systems. The first mouse model recapitulates a deletion in human chromosome 16p11.2, found in 1% of individuals with autism. The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. Consistent with previous results, 16p11.2 heterozygous null mice, also known as Del(7Slx1b-Sept14Aam weighed less than wild type littermates displayed hyperactivity and no social deficits. Cntnap2 homozygous null mice were also hyperactive, froze less during testing, showed a mild gait phenotype and deficits in the three-chamber social preference test, although less robust than previously published. In the open field test with exposure to urine of an estrous female, however, the Cntnap2 null mice showed reduced vocalizations. In addition, Cntnap2 null mice performed slightly better in a cognitive procedural learning test. Although finding and replicating robust behavioral phenotypes in animal models is a challenging task, such functional readouts remain important in the development of

  3. Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

    Directory of Open Access Journals (Sweden)

    Chantal Sellier

    Full Text Available Deletion of the 1.5-3 Mb region of chromosome 22 at locus 11.2 gives rise to the chromosome 22q11.2 deletion syndrome (22q11DS, also known as DiGeorge and Velocardiofacial Syndromes. It is the most common micro-deletion disorder in humans and one of the most common multiple malformation syndromes. The syndrome is characterized by a broad phenotype, whose characterization has expanded considerably within the last decade and includes many associated findings such as craniofacial anomalies (40%, conotruncal defects of the heart (CHD; 70-80%, hypocalcemia (20-60%, and a range of neurocognitive anomalies with high risk of schizophrenia, all with a broad phenotypic variability. These phenotypic features are believed to be the result of a change in the copy number or dosage of the genes located in the deleted region. Despite this relatively clear genetic etiology, very little is known about which genes modulate phenotypic variations in humans or if they are due to combinatorial effects of reduced dosage of multiple genes acting in concert. Here, we report on decreased expression levels of genes within the deletion region of chromosome 22, including DGCR8, in peripheral leukocytes derived from individuals with 22q11DS compared to healthy controls. Furthermore, we found dysregulated miRNA expression in individuals with 22q11DS, including miR-150, miR-194 and miR-185. We postulate this to be related to DGCR8 haploinsufficiency as DGCR8 regulates miRNA biogenesis. Importantly we demonstrate that the level of some miRNAs correlates with brain measures, CHD and thyroid abnormalities, suggesting that the dysregulated miRNAs may contribute to these phenotypes and/or represent relevant blood biomarkers of the disease in individuals with 22q11DS.

  4. Correction: Forrester, N.L.; Coffey, L.L.; Weaver, S.C. Arboviral Bottlenecks and Challenges to Maintaining Diversity and Fitness during Mosquito Transmission. Viruses 2014, 6, 3991–4004

    Directory of Open Access Journals (Sweden)

    Naomi L. Forrester

    2014-11-01

    Full Text Available In the original manuscript, Forrester, N.L.; Coffey, L.L.; Weaver, S.C. Arboviral Bottlenecks and Challenges to Maintaining Diversity and Fitness during Mosquito Transmission. Viruses 2014, 6, 3991–4004, Figure 1 contains an error, the third bottle was absent from the figure:[...

  5. Comparison of quality assurance for performance and safety characteristics of the facility for Boron Neutron Capture therapy in Petten/NL with medical electron accelerators

    International Nuclear Information System (INIS)

    Rassow, Juergen; Stecher-Rasmussen, Finn; Voorbraak, Wim; Moss, Ray; Vroegindeweij, Corine; Hideghety, Katalin; Sauerwein, Wolfgang

    2001-01-01

    Background and purpose: The European Council Directive on health protection 97/43/EURATOM requires radiotherapy quality assurance programmes for performance and safety characteristics including acceptance and repeated tests. For Boron Neutron Capture therapy (BNCT) at the High Flux Reactor (HFR) in Petten/NL such a programme has been developed on the basis of IEC publications for medical electron accelerators. Results: The fundamental differences of clinical dosimetry for medical electron accelerators and BNCT are presented and the order of magnitude of dose components and their stability and that of the main other influencing parameter 10 B concentration for BNCT patient treatments. A comparison is given for requirements for accelerators and BNCT units indicating items which are not transferable, equal or additional. Preliminary results of in vivo measurements done with a set of 55 Mn, 63 Cu and 197 Au activation foils for all single fields for the four fractions at all 15 treated patients show with <±4% up to now a worse reproducibility than the used dose monitoring systems (±1.5%) caused by influence of hair position on the foil-skull distance. Conclusions: Despite the more complex clinical dosimetry (because of four relevant dose components, partly of different linear energy transfer (LET)) BNCT can be regulated following the principles of quality assurance procedures for therapy with medical electron accelerators. The reproducibility of applied neutron fluence (proportional to absorbed doses) and the main safety aspects are equal for all teletherapy methods including BNCT

  6. A cross-sectional analysis of the development of response inhibition in children with Chromosome 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Heather M Shapiro

    2013-08-01

    Full Text Available Chromosome 22q11.2 Deletion Syndrome (22q11.2DS is a neurogenetic disorder that is associated with cognitive impairments and significantly elevated risk for developing schizophrenia. While impairments in response inhibition are central to executive dysfunction in schizophrenia, the nature and development of such impairments in children with 22q11.2DS, a group at high risk for the disorder, are not clear. Here we used a classic Go/No-Go paradigm to quantify proactive (anticipatory stopping and reactive (actual stopping response inhibition in 47 children with 22q11.2DS and 36 typically developing (TD children, all ages 7-14. A cross-sectional design was used to examine age-related associations with response inhibition. When compared with TD individuals, children with 22q11.2DS demonstrated typical proactive response inhibition at all ages. By contrast, reactive response inhibition was impaired in children with 22q11.2DS relative to TD children. While older age predicted better reactive response inhibition in TD children, there was no age-related association with reactive response inhibition in children with 22q11.2DS. Closer examination of individual performance data revealed a wide range of performance abilities in older children with 22q11.2DS; some typical and others highly impaired. The results of this cross-sectional analysis suggest an impaired developmental trajectory of reactive response inhibition in some children with 22q11.2DS that might be related to atypical development of neuroanatomical systems underlying this cognitive process. As part of a larger study, this investigation might help identify risk factors for conversion to schizophrenia and lead to early diagnosis and preventive intervention.

  7. Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

    Science.gov (United States)

    Mekori-Domachevsky, Ehud; Guri, Yael; Yi, James; Weisman, Omri; Calkins, Monica E; Tang, Sunny X; Gross, Raz; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Zalsman, Gil; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

    2017-10-01

    About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Fluorescence in situ hybridization (FISH screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

    Directory of Open Access Journals (Sweden)

    Paula Sandrin-Garcia

    2007-01-01

    Full Text Available The velocardiofacial syndrome (VCFS, a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH with the N25 (D22S75; 22q11.2 probe revealed deletions in ten individuals (62%. Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.

  9. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

    Science.gov (United States)

    D’Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M.; Faucett, W. Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J. R. A.; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina; Forzano, Francesca; Gérard, Marion; Goin-Kochel, Robin P.; Grant, Ellen; Hunter, Jill V.; Isidor, Bertrand; Jacquette, Aurélia; Jønch, Aia E.; Keren, Boris; Lacombe, Didier; Caignec, Cédric Le; Martin, Christa Lese; Männik, Katrin; Metspalu, Andres; Mignot, Cyril; Mukherjee, Pratik; Owen, Michael J.; Passeggeri, Marzia; Rooryck-Thambo, Caroline; Rosenfeld, Jill A.; Spence, Sarah J.; Steinman, Kyle J.; Tjernagel, Jennifer; Van Haelst, Mieke; Shen, Yiping; Draganski, Bogdan; Sherr, Elliott H.; Ledbetter, David H.; van den Bree, Marianne B. M.; Beckmann, Jacques S.; Spiro, John E.; Reymond, Alexandre; Jacquemont, Sébastien; Chung, Wendy K.

    2018-01-01

    IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (−22.1 points; P 100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is

  10. Performance analysis of a 11.2 kWp roof top grid-connected PV system in Eastern India

    Directory of Open Access Journals (Sweden)

    Renu Sharma

    2017-11-01

    Full Text Available Barren land and roof tops of buildings are being increasingly used worldwide to install solar panels for generating electricity. One such step has been taken by Siksha ‘O’Anusandhan University, Bhubaneswar (Latitude 20.24° N and Longitude 80.85° E by installing a 11.2 kWp grid connected solar power system during February, 2014. This PV system is tilted at an angle of 21° on the top floor of a 25 metre height building. This system was installed This paper presents the results of this grid connected photovoltaic system which was monitored between September 2014 to August 2015. The entire electricity generated by the system was fed into the state grid. The different parameters of the system studied include PV module efficiency, array yield, final yield, inverter efficiency and performance ratio of the system. The total energy generated during this period was found to be 14.960 MWh and the PV module efficiency, inverter efficiency and performance ratio were found to be 13.42%, 89.83% and 0.78 respectively.

  11. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

    Science.gov (United States)

    Nuttle, Xander; Giannuzzi, Giuliana; Duyzend, Michael H; Schraiber, Joshua G; Narvaiza, Iñigo; Sudmant, Peter H; Penn, Osnat; Chiatante, Giorgia; Malig, Maika; Huddleston, John; Benner, Chris; Camponeschi, Francesca; Ciofi-Baffoni, Simone; Stessman, Holly A F; Marchetto, Maria C N; Denman, Laura; Harshman, Lana; Baker, Carl; Raja, Archana; Penewit, Kelsi; Janke, Nicolette; Tang, W Joyce; Ventura, Mario; Banci, Lucia; Antonacci, Francesca; Akey, Joshua M; Amemiya, Chris T; Gage, Fred H; Reymond, Alexandre; Eichler, Evan E

    2016-08-11

    Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of autism and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution. Here we reconstruct the evolutionary history of the locus and identify bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens. We estimate that a 95-kilobase-pair segment containing BOLA2 duplicated across the critical region approximately 282 thousand years ago (ka), one of the latest among a series of genomic changes that dramatically restructured the locus during hominid evolution. All humans examined carried one or more copies of the duplication, which nearly fixed early in the human lineage--a pattern unlikely to have arisen so rapidly in the absence of selection (P sapiens-specific duplication. In summary, the duplicative transposition of BOLA2 at the root of the H. sapiens lineage about 282 ka simultaneously increased copy number of a gene associated with iron homeostasis and predisposed our species to recurrent rearrangements associated with disease.

  12. Comparing the neural bases of self-referential processing in typically developing and 22q11.2 adolescents.

    Science.gov (United States)

    Schneider, Maude; Debbané, Martin; Lagioia, Annalaura; Salomon, Roy; d'Argembeau, Arnaud; Eliez, Stephan

    2012-04-01

    The investigation of self-reflective processing during adolescence is relevant, as this period is characterized by deep reorganization of the self-concept. It may be the case that an atypical development of brain regions underlying self-reflective processing increases the risk for psychological disorders and impaired social functioning. In this study, we investigated the neural bases of self- and other-related processing in typically developing adolescents and youths with 22q11.2 deletion syndrome (22q11DS), a rare neurogenetic condition associated with difficulties in social interactions and increased risk for schizophrenia. The fMRI paradigm consisted in judging if a series of adjectives applied to the participant himself/herself (self), to his/her best friend or to a fictional character (Harry Potter). In control adolescents, we observed that self- and other-related processing elicited strong activation in cortical midline structures (CMS) when contrasted with a semantic baseline condition. 22q11DS exhibited hypoactivation in the CMS and the striatum during the processing of self-related information when compared to the control group. Finally, the hypoactivation in the anterior cingulate cortex was associated with the severity of prodromal positive symptoms of schizophrenia. The findings are discussed in a developmental framework and in light of their implication for the development of schizophrenia in this at-risk population. Copyright © 2011 Elsevier Ltd. All rights reserved.

  13. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    DEFF Research Database (Denmark)

    de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo

    2010-01-01

    could be examined in 14 families. While 10 microdeletions were inherited (seven maternal and three paternal transmissions), four microdeletions occurred de novo at 15q13.3 (n = 1), 16p13.11 (n = 2) and 22q11.2 (n = 1). Eight of the transmitting parents were clinically unaffected, suggesting...... syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction.......2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with idiopathic generalized epilepsy in this cohort with known 15q13.3 microdeletions (IGE/control: 9/0), parental transmission...

  14. Along the N=126 closed shell: study of $^{205}$Au through its $\\pi h_{11/2}^{-1}$ isomeric decay

    CERN Multimedia

    2002-01-01

    Excited states have been identified in only three of the N=126 closed shell nuclei 'below' $^{208}$Pb, $^{207}$Tl, $^{206}$Hg and very recently $^{204}$Pt. We aim to extend our knowledge of the neutron-rich N=126 nuclei by observing the internal decay of the $\\pi h^{-1}_{11/2}$ excited state in $^{205}$Au, which is expected to be isomeric. In addition, the decay of the analogous states in the N=122 and N=124 $^{201,203}$Au will be studied. The lifetimes of the expected isomeric states are crucial for the success of the experiment, and they are estimated to be in the range of 0.3-20 s. These are long enough to enable the extraction from the source, but shorter than the $\\beta$-decay half-lives. Proton single-particle energies and transition rates will be extracted, providing information about the robustness of the N=126 shell-closure. Three days of beam-time is requested.

  15. Adherence to the Dutch Guidelines for a Healthy Diet and cancer risk in the European Prospective Investigation into Cancer and Nutrition-Netherlands (EPIC-NL) cohort.

    Science.gov (United States)

    Struijk, Ellen A; May, Anne M; Beulens, Joline W J; Fransen, Heidi P; de Wit, G Ardine; Boer, Jolanda M A; Onland-Moret, N Charlotte; Hoekstra, Jeljer; van der Schouw, Yvonne T; Bueno-de-Mesquita, H Bas; Peeters, Petra H M

    2014-11-01

    To examine the association between adherence to the Dutch Guidelines for a Healthy Diet created by the Dutch Health Council in 2006 and overall and smoking-related cancer incidence. Prospective cohort study. Adherence to the guidelines, which includes one recommendation on physical activity and nine on diet, was measured using an adapted version of the Dutch Healthy Diet (DHD) index. The score ranged from 0 to 90 with a higher score indicating greater adherence to the guidelines. We estimated the hazard ratios (HR) and 95 % confidence intervals for the association between the DHD index (in tertiles and per 20-point increment) at baseline and cancer incidence at follow-up. We studied 35 608 men and women aged 20-70 years recruited into the European Prospective Investigation into Cancer and Nutrition-Netherlands (EPIC-NL) study during 1993-1997. After an average follow-up of 12·7 years, 3027 cancer cases were documented. We found no significant association between the DHD index (tertile 3 v. tertile 1) and overall (HR = 0·97; 95 % CI 0·88, 1·07) and smoking-related cancer incidence (HR = 0·89; 95 % CI 0·76, 1·06) after adjustment for relevant confounders. Excluding the components physical activity or alcohol from the score did not change the results. None of the individual components of the DHD index was significantly associated with cancer incidence. In the present study, participants with a high adherence to the Dutch Guidelines for a Healthy Diet were not at lower risk of overall or smoking-related cancer. This does not exclude that other components not included in the DHD index may be associated with overall cancer risk.

  16. Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis.

    Science.gov (United States)

    Padula, Maria Carmela; Schaer, Marie; Armando, Marco; Sandini, Corrado; Zöller, Daniela; Scariati, Elisa; Schneider, Maude; Eliez, Stephan

    2018-01-17

    Patients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile. In this study, we included 22 patients meeting the criteria for an ultra-high-risk (UHR) psychotic state and 22 age-, gender- and IQ-matched non-UHR patients. Measures of cortical morphology, including cortical thickness, volume, surface area and gyrification, were compared between the two groups using mass-univariate and multivariate comparisons. Furthermore, the development of these measures was tested in the two groups using a mixed-model approach. Our results showed differences in cortical volume and surface area in UHR patients compared with non-UHR. In particular, we found a positive association between surface area and the rate of change of global functioning, suggesting that higher surface area is predictive of improved functioning with age. We also observed accelerated cortical thinning during adolescence in UHR patients with 22q11DS. These results, although preliminary, suggest that alterations in cortical volume and surface area as well as altered development of cortical thickness may be associated to a greater probability to develop psychosis in 22q11DS.

  17. Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome

    Directory of Open Access Journals (Sweden)

    Maria eJalbrzikowski

    2014-11-01

    Full Text Available 22q11.2 Microdeletion Syndrome (22q11DS is a highly penetrant genetic mutation associated with a significantly increased risk for psychosis. Aberrant neurodevelopment may lead to inappropriate neural circuit formation and cerebral dysconnectivity in 22q11DS, which may contribute to symptom development. Here we examined: 1 differences between 22q11DS participants and typically developing controls in diffusion tensor imaging (DTI measures within white matter tracts; 2 whether there is an altered age-related trajectory of white matter pathways in 22q11DS; and 3 relationships between DTI measures, social cognition task performance and positive symptoms of psychosis in 22q11DS and typically developing controls. Sixty-four direction diffusion weighted imaging data were acquired on 65 participants (36 22q11DS, 29 controls. We examined differences between 22q11DS vs. controls in measures of fractional anisotropy (FA, axial (AD and radial diffusivity (RD, using both a voxel-based and region of interest approach. Social cognition domains assessed were: Theory of Mind and emotion recognition. Positive symptoms were assessed using the Structured Interview for Prodromal Syndromes. Compared to typically developing controls, 22q11DS participants showed significantly lower AD and RD in multiple white matter tracts, with effects of greatest magnitude for AD in the superior longitudinal fasciculus. Additionally, 22q11DS participants failed to show typical age-associated changes in FA and RD in the left inferior longitudinal fasciculus. Higher AD in the left inferior fronto-occipital fasciculus and left uncinate fasciculus was associated with better social cognition in 22q11DS and controls. In contrast, greater severity of positive symptoms was associated with lower AD in bilateral regions of the inferior fronto-occipital fasciculus in 22q11DS. White matter microstructure in tracts relevant to social cognition is disrupted in 22q11DS, and may contribute to

  18. Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.

    Science.gov (United States)

    Mattiaccio, Leah M; Coman, Ioana L; Thompson, Carlie A; Fremont, Wanda P; Antshel, Kevin M; Kates, Wendy R

    2018-01-20

    22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms. In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17-25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC. We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal-frontal, frontal-parietal, and frontal-occipital ROIs. In contrast, FC between ROIs in the parietal-temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus. Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.

  19. An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    František Váša

    2016-01-01

    Full Text Available Chromosome 22q11.2 deletion syndrome (22q11DS is a genetic disease known to lead to cerebral structural alterations, which we study using the framework of the macroscopic white-matter connectome. We create weighted connectomes of 44 patients with 22q11DS and 44 healthy controls using diffusion tensor magnetic resonance imaging, and perform a weighted graph theoretical analysis. After confirming global network integration deficits in 22q11DS (previously identified using binary connectomes, we identify the spatial distribution of regions responsible for global deficits. Next, we further characterize the dysconnectivity of the deficient regions in terms of sub-network properties, and investigate their relevance with respect to clinical profiles. We define the subset of regions with decreased nodal integration (evaluated using the closeness centrality measure as the affected core (A-core of the 22q11DS structural connectome. A-core regions are broadly bilaterally symmetric and consist of numerous network hubs — chiefly parietal and frontal cortical, as well as subcortical regions. Using a simulated lesion approach, we demonstrate that these core regions and their connections are particularly important to efficient network communication. Moreover, these regions are generally densely connected, but less so in 22q11DS. These specific disturbances are associated to a rerouting of shortest network paths that circumvent the A-core in 22q11DS, “de-centralizing” the network. Finally, the efficiency and mean connectivity strength of an orbito-frontal/cingulate circuit, included in the affected regions, correlate negatively with the extent of negative symptoms in 22q11DS patients, revealing the clinical relevance of present findings. The identified A-core overlaps numerous regions previously identified as affected in 22q11DS as well as in schizophrenia, which approximately 30–40% of 22q11DS patients develop.

  20. Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects.

    Science.gov (United States)

    Carmel, Miri; Zarchi, Omer; Michaelovsky, Elena; Frisch, Amos; Patya, Miriam; Green, Tamar; Gothelf, Doron; Weizman, Abraham

    2014-09-01

    The 22q11.2 deletion syndrome (22q11.2DS) carries the highest genetic risk factor for the development of schizophrenia. We investigated the association of genetic variants in two schizophrenia candidate genes with executive function (EF) and IQ in 22q11.2DS individuals. Ninety two individuals with 22q11.2 deletion were studied for the genetic association between COMT and PRODH variants and EF and IQ. Subjects were divided into children (under 12 years old), adolescents (between 12 and 18 years old) and adults (older than 18 years), and genotyped for the COMT Val158Met (rs4680) and PRODH Arg185Trp (rs4819756) polymorphisms. The participants underwent psychiatric evaluation and EF assessment. Our main finding is a significant influence of the COMT Val158Met polymorphism on both IQ and EF performance. Specifically, 22q11.2DS subjects with Met allele displayed higher IQ scores in all age groups compared to Val carriers, reaching significance in both adolescents and adults. The Met allele carriers performed better than Val carriers in EF tasks, being statistically significant in the adult group. PRODH Arg185Trp variant did not affect IQ or EF in our 22q11.2DS cohort. In conclusion, functional COMT variant, but not PRODH, affects IQ and EF in 22q11.2DS subjects during neurodevelopment with a maximal effect at adulthood. Future studies should monitor the cognitive performance of the same individuals from childhood to old age. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Summary of surface-water-quality data collected for the Northern Rockies Intermontane Basins National Water-Quality Assessment Program in the Clark Fork-Pend Oreille and Spokane River basins, Montana, Idaho, and Washington, water years 1999-2001

    Science.gov (United States)

    Beckwith, Michael A.

    2003-01-01

    Water-quality samples were collected at 10 sites in the Clark Fork-Pend Oreille and Spokane River Basins in water years 1999 – 2001 as part of the Northern Rockies Intermontane Basins (NROK) National Water-Quality Assessment (NAWQA) Program. Sampling sites were located in varied environments ranging from small streams and rivers in forested, mountainous headwater areas to large rivers draining diverse landscapes. Two sampling sites were located immediately downstream from the large lakes; five sites were located downstream from large-scale historical mining and oreprocessing areas, which are now the two largest “Superfund” (environmental remediation) sites in the Nation. Samples were collected during a wide range of streamflow conditions, more frequently during increasing and high streamflow and less frequently during receding and base-flow conditions. Sample analyses emphasized major ions, nutrients, and selected trace elements. Streamflow during the study ranged from more than 130 percent of the long-term average in 1999 at some sites to 40 percent of the long-term average in 2001. River and stream water in the study area exhibited small values for specific conductance, hardness, alkalinity, and dissolved solids. Dissolved oxygen concentrations in almost all samples were near saturation. Median total nitrogen and total phosphorus concentrations in samples from most sites were smaller than median concentrations reported for many national programs and other NAWQA Program study areas. The only exceptions were two sites downstream from large wastewater-treatment facilities, where median concentrations of total nitrogen exceeded the national median. Maximum concentrations of total phosphorus in samples from six sites exceeded the 0.1 milligram per liter threshold recommended for limiting nuisance aquatic growth. Concentrations of arsenic, cadmium, copper, lead, mercury, and zinc were largest in samples from sites downstream from historical mining and ore

  2. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Science.gov (United States)

    Jacquemont, Sébastien; Reymond, Alexandre; Zufferey, Flore; Harewood, Louise; Walters, Robin G.; Kutalik, Zoltán; Martinet, Danielle; Shen, Yiping; Valsesia, Armand; Beckmann, Noam D.; Thorleifsson, Gudmar; Belfiore, Marco; Bouquillon, Sonia; Campion, Dominique; De Leeuw, Nicole; De Vries, Bert B. A.; Esko, Tõnu; Fernandez, Bridget A.; Fernández-Aranda, Fernando; Fernández-Real, José Manuel; Gratacòs, Mònica; Guilmatre, Audrey; Hoyer, Juliane; Jarvelin, Marjo-Riitta; Kooy, Frank R.; Kurg, Ants; Le Caignec, Cédric; Männik, Katrin; Platt, Orah S.; Sanlaville, Damien; Van Haelst, Mieke M.; Villatoro Gomez, Sergi; Walha, Faida; Wu, Bai-Lin; Yu, Yongguo; Aboura, Azzedine; Addor, Marie-Claude; Alembik, Yves; Antonarakis, Stylianos E.; Arveiler, Benoît; Barth, Magalie; Bednarek, Nathalie; Béna, Frédérique; Bergmann, Sven; Beri, Mylène; Bernardini, Laura; Blaumeiser, Bettina; Bonneau, Dominique; Bottani, Armand; Boute, Odile; Brunner, Han G.; Cailley, Dorothée; Callier, Patrick; Chiesa, Jean; Chrast, Jacqueline; Coin, Lachlan; Coutton, Charles; Cuisset, Jean-Marie; Cuvellier, Jean-Christophe; David, Albert; De Freminville, Bénédicte; Delobel, Bruno; Delrue, Marie-Ange; Demeer, Bénédicte; Descamps, Dominique; Didelot, Gérard; Dieterich, Klaus; Disciglio, Vittoria; Doco-Fenzy, Martine; Drunat, Séverine; Duban-Bedu, Bénédicte; Dubourg, Christèle; El-Sayed Moustafa, Julia S.; Elliott, Paul; Faas, Brigitte H. W.; Faivre, Laurence; Faudet, Anne; Fellmann, Florence; Ferrarini, Alessandra; Fisher, Richard; Flori, Elisabeth; Forer, Lukas; Gaillard, Dominique; Gerard, Marion; Gieger, Christian; Gimelli, Stefania; Gimelli, Giorgio; Grabe, Hans J.; Guichet, Agnès; Guillin, Olivier; Hartikainen, Anna-Liisa; Heron, Délphine; Hippolyte, Loyse; Holder, Muriel; Homuth, Georg; Isidor, Bertrand; Jaillard, Sylvie; Jaros, Zdenek; Jiménez-Murcia, Susana; Joly Helas, Géraldine; Jonveaux, Philippe; Kaksonen, Satu; Keren, Boris; Kloss-Brandstätter, Anita; Knoers, Nine V. A. M.; Koolen, David A.; Kroisel, Peter M.; Kronenberg, Florian; Labalme, Audrey; Landais, Emilie; Lapi, Elisabetta; Layet, Valérie; Legallic, Solenn; Leheup, Bruno; Leube, Barbara; Lewis, Suzanne; Lucas, Josette; Macdermot, Kay D.; Magnusson, Pall; Marshall, Christian R.; Mathieu-Dramard, Michèle; Mccarthy, Mark I.; Meitinger, Thomas; Antonietta Mencarelli, Maria; Merla, Giuseppe; Moerman, Alexandre; Mooser, Vincent; Morice-Picard, Fanny; Mucciolo, Mafalda; Nauck, Matthias; Coumba Ndiaye, Ndeye; Nordgren, Ann; Pasquier, Laurent; Petit, Florence; Pfundt, Rolph; Plessis, Ghislaine; Rajcan-Separovic, Evica; Paolo Ramelli, Gian; Rauch, Anita; Ravazzolo, Roberto; Reis, Andre; Renieri, Alessandra; Richart, Cristobal; Ried, Janina S.; Rieubland, Claudine; Roberts, Wendy; Roetzer, Katharina M.; Rooryck, Caroline; Rossi, Massimiliano; Saemundsen, Evald; Satre, Véronique; Schurmann, Claudia; Sigurdsson, Engilbert; Stavropoulos, Dimitri J.; Stefansson, Hreinn; Tengström, Carola; Thorsteinsdóttir, Unnur; Tinahones, Francisco J.; Touraine, Renaud; Vallée, Louis; Van Binsbergen, Ellen; Van Der Aa, Nathalie; Vincent-Delorme, Catherine; Visvikis-Siest, Sophie; Vollenweider, Peter; Völzke, Henry; Vulto-Van Silfhout, Anneke T.; Waeber, Gérard; Wallgren-Pettersson, Carina; Witwicki, Robert M.; Zwolinksi, Simon; Andrieux, Joris; Estivill, Xavier; Gusella, James F.; Gustafsson, Omar; Metspalu, Andres; Scherer, Stephen W.; Stefansson, Kari; Blakemore, Alexandra I. F.; Beckmann, Jacques S.; Froguel, Philippe

    2011-01-01

    regions. The reciprocal impact of these 16p11.2 copy number variants suggests that severe obesity and being underweight can have mirror etiologies, possibly through contrasting effects on eating behaviour. PMID:21881559

  3. Development of Structural Covariance From Childhood to Adolescence: A Longitudinal Study in 22q11.2DS

    Directory of Open Access Journals (Sweden)

    Corrado Sandini

    2018-05-01

    Full Text Available Background: Schizophrenia is currently considered a neurodevelopmental disorder of connectivity. Still few studies have investigated how brain networks develop in children and adolescents who are at risk for developing psychosis. 22q11.2 Deletion Syndrome (22q11DS offers a unique opportunity to investigate the pathogenesis of schizophrenia from a neurodevelopmental perspective. Structural covariance (SC is a powerful approach to explore morphometric relations between brain regions that can furthermore detect biomarkers of psychosis, both in 22q11DS and in the general population.Methods: Here we implement a state-of-the-art sliding-window approach to characterize maturation of SC network architecture in a large longitudinal cohort of patients with 22q11DS (110 with 221 visits and healthy controls (117 with 211 visits. We furthermore propose a new clustering-based approach to group regions according to trajectories of structural connectivity maturation. We correlate measures of SC with development of working memory, a core executive function that is highly affected in both idiopathic psychosis and 22q11DS. Finally, in 22q11DS we explore correlations between SC dysconnectivity and severity of internalizing psychopathology.Results: In HCs network architecture underwent a quadratic developmental trajectory maturing up to mid-adolescence. Late-childhood maturation was particularly evident for fronto-parietal cortices, while Default-Mode-Network-related regions showed a more protracted linear development. Working memory performance was positively correlated with network segregation and fronto-parietal connectivity. In 22q11DS, we demonstrate aberrant maturation of SC with disturbed architecture selectively emerging during adolescence and correlating more severe internalizing psychopathology. Patients also presented a lack of typical network development during late-childhood, that was particularly prominent for frontal connectivity.Conclusions: Our

  4. Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population-A Nationwide Register Study

    DEFF Research Database (Denmark)

    Vangkilde, Anders; Olsen, Line; Hoeffding, Louise K

    2016-01-01

    OBJECTIVE: Cross-sectional studies have shown associations between 22q11.2 deletion syndrome and schizophrenia. However, large-scale prospective studies have been lacking. We, therefore, conducted the first large-scale population based study on the risk of being diagnosed with schizophrenia...... in persons identified with 22q11.2 deletion syndrome. METHODS: Danish nationwide registers were linked to establish a cohort consisting of all Danish citizens born during 1955-2004 and the cohort was followed from January 1, 1994 until December 31, 2013. Data were analyzed using survival analyses...... and adjusted for calendar year, age, sex, and parental mental health history. RESULTS: A total of 156 individuals with 22q11.2 deletion syndrome were identified, out of which 6 individuals were diagnosed with schizophrenia spectrum disorders following identification with 22q11 deletion syndrome. Identified...

  5. Anomalous signature splitting of the πh11/2direct x νi13/2 band in A-160 odd-odd nuclei

    International Nuclear Information System (INIS)

    Yang Chunxiang; Zhou Hongyu

    2003-01-01

    Systematic features of anomalous signature splitting of the πh 11/2 direct x νi 13/2 band in A-160 odd-odd nuclei have been investigated. It is shown that the mechanism of anomalous signature splitting is similar to that of the normal signature splitting which is essentially caused by the Coriolis mixing of Ω=1/2 components into the nuclear wavefunction and the anomalous splitting in signature is mainly caused by the definition. The extensively observed anomalous signature splitting in this band might be an indication that the interaction between the h 11/2 proton and the i 13/2 neutron cannot be neglected. The new observation of high- and low-K bands based on the same πh 11/2 direct x νi 13/2 configuration in 164 Tm is also discussed

  6. Histology of the pharyngeal constrictor muscle in 22q11.2 deletion syndrome and non-syndromic children with velopharyngeal insufficiency.

    Science.gov (United States)

    Widdershoven, Josine C C; Spruijt, Nicole E; Spliet, Wim G M; Breugem, Corstiaan C; Kon, Moshe; Mink van der Molen, Aebele B

    2011-01-01

    Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. Histologic properties were compared between the groups. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed.

  7. Estudio de la psicopatología en una población de pacientes con microdeleción 22q11.2

    OpenAIRE

    Robles Sánchez, Fuensanta

    2016-01-01

    El síndrome de deleción 22q11.2 (22q11.2 DS; OMIM # 188400) es un trastorno genético que puede presentar diversas malformaciones físicas, déficit cognitivo y trastornos psicopatológicos. Los objetivos del estudio han consistido en evaluar el nivel de inteligencia y los trastornos psiquiátricos de los pacientes con este síndrome en la etapa infanto-juvenil y determinar los factores genéticos, clínicos y sociodemográficos asociados. Hemos estudiado el perfil cognitivo y los trastornos psi...

  8. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

    Science.gov (United States)

    Stevens, Servi J C; Blom, Eveline W; Siegelaer, Ingrid T J; Smeets, Eric E J G L

    2015-04-01

    We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in direct orientation, which have >99% sequence identity. Despite the fact that the deletion was almost 10 Mbp in size, the patients showed a relatively mild clinical phenotype, that is, mild-to-moderate intellectual disability, a happy disposition, speech delay and delayed motor development. Their phenotype matches with that of previously described patients. The 2p11.2-2p12 deletion includes the REEP1 gene that is associated with spastic paraplegia and phenotypic features related to this are apparent in most 2p11.2-2p12 deletion patients, but not in all. Other hemizygous genes that may contribute to the clinical phenotype include LRRTM1 and CTNNA2. We propose a recurrent but rare 2p11.2-2p12 deletion syndrome based on (1) the identical, non-random localisation of the de novo deletion breakpoints in two unrelated patients and a patient from literature, (2) the patients' phenotypic similarity and their phenotypic overlap with other 2p deletions and (3) the presence of highly identical LCR blocks flanking both breakpoints, consistent with a non-allelic homologous recombination (NAHR)-mediated rearrangement.

  9. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

    NARCIS (Netherlands)

    Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; Witwicki, Robert; Didelot, Gérard; Van Der Werf, Ilse; Alfaiz, Ali A.; Zazhytska, Marianna; Chrast, Jacqueline; Macé, Aurélien; Bergmann, Sven; Kutalik, Zoltan; Siffredi, Vanessa; Zufferey, Flore; Martinet, Danielle; Bena, Frédérique; Rauch, Anita; Bouquillon, Sonia; Delobel, Bruno; Boute, Odile; Duban-Bedu, Bénédicte; Le Caignec, Cédric; Isidor, Bertrand; Chiesa, Jean; Keren, Boris; Gilbert-Dussardier, Brigitte; Touraine, Renaud; Campion, Dominique; Thambo, Caroline Rooryck; Mathieu-Dramard, Michèle; Plessis, Ghislaine; Kooy, Frank; Peeters, Hilde; Ounap, Katrin; Vulto-Van Silfhout, Anneke T.; De Vries, Bert B.; Van Binsbergen, Ellen; Nordgren, Ann; Mucciolo, Mafalda; Renieri, Alessandra; Rajcan-Separovic, Evica; Philipps, John A.; Ellis, Richard J.; Van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sébastien; Talkowski, Michael E.; Katsanis, Nicholas; Reymond, Alexandre

    2015-01-01

    The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal

  10. Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples

    DEFF Research Database (Denmark)

    Sørensen, Karina M; Agergaard, Peter; Olesen, Charlotte

    2010-01-01

    The 22q11 deletion syndrome, which is caused by a 1.5- to 3.0-megabase hemizygous deletion in chromosome 22q11.2, has a prevalence of 1/2000 to 1/4000. However, the syndrome presents with highly variable phenotypes and thus may be underestimated among Danish newborns. To establish a true incidenc...

  11. Performance on the Modified Card Sorting Test and Its Relation to Psychopathology in Adolescents and Young Adults with 22Q11.2 Deletion Syndrome

    Science.gov (United States)

    Rockers, K.; Ousley, O.; Sutton, T.; Schoenberg, E.; Coleman, K.; Walker, E.; Cubells, J. F.

    2009-01-01

    Background: Approximately one-third of individuals with 22q11.2 deletion syndrome (22q11DS), a common genetic disorder highly associated with intellectual disabilities, may develop schizophrenia, likely preceded by a mild to moderate cognitive decline. Methods: We examined adolescents and young adults with 22q11DS for the presence of executive…

  12. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

    Science.gov (United States)

    Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Wada, Takahito; Kurosawa, Kenji

    2014-11-01

    Angelman syndrome (AS) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness. The underlining molecular deficit is the absence of the maternal copy of the imprinted UBE3A gene due to maternal deletions, which is observed in 70-75% of cases, and can be detected using fluorescent in situ hybridization (FISH) of the UBE3A region. Only a few familial AS cases have been reported with a complete deletion of UBE3A. Here, we report on siblings with AS caused by a microdeletion of 15q11.2-q12 encompassing UBE3A at the breakpoint of an inversion at 15q11.2 and 15q26.1. Karyotyping revealed an inversion of 15q, and FISH revealed the deletion of the UBE3A region. Array comparative genomic hybridization (CGH) demonstrated a 467 kb deletion at 15q11.2-q12, encompassing only UBE3A, SNORD115, and PAR1, and a 53 kb deletion at 15q26.1, encompassing a part of SLCO3A1. Their mother had a normal karyotype and array CGH detected no deletion of 15q11.2-q12, so we assumed gonadal mosaicism. This report describes a rare type of familial AS detected using the D15S10 FISH test. © 2014 Wiley Periodicals, Inc.

  13. Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

    Directory of Open Access Journals (Sweden)

    Grabe Hans

    2010-06-01

    Full Text Available Abstract Background Obsessive-compulsive disorder (OCD is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome, suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. Methods We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA. Results No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. Conclusions Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.

  14. The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Hidding, E.; Swaab, H.; de Sonneville, L. M J; van Engeland, H.; Vorstman, J. A S

    2016-01-01

    This paper examines how COMT158 genotypes and plasma proline levels are associated with variable penetrance of social behavioural and social cognitive problems in 22q11.2 deletion syndrome (22q11DS). Severity of autistic spectrum symptoms of 45 participants with 22q11DS was assessed using the Autism

  15. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

  16. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population

    DEFF Research Database (Denmark)

    Olsen, Line; Sparsø, Thomas; Weinsheimer, Shantel M

    2018-01-01

    BACKGROUND: Although the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates of their population prevalence, mortality, disease risks, and diagnostic trajectories are absent. We aimed to provide the true population prevalence ...

  17. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Leana-Cox, J.; Pangkanon, Suthipong; Eanet, K.R. [Univ. of Maryland School of Medicine, Baltimore, MD (United States)] [and others

    1996-11-11

    The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from apparently similar or identical 22q11.2 deletions, suggesting that they represent phenotypic variability of a single genetic syndrome. We report on 12 individuals in five families with del(22)(q11.2) by fluorescent in situ hybridization, and define the frequency of phenotypic abnormalities in those cases and in 70 individuals from 27 del(22)(q11.2) families from the literature. Common manifestations include mental impairment (97%), abnormal face (93%), cardiac malformations (681%), thymic (64%) and parathyroid (63%) abnormalities, and cleft palate or velopharyngeal insufficiency (48%). Familial DG, VCF, and CTAF syndromes due to del(22)(q11.2) show significant inter- and intrafamilial clinical variability consistent with the hypothesis that a single gene or group of tightly linked genes is the common cause of these syndromes. Up to 25% of 22q deletions are inherited, indicating that parents of affected children warrant molecular cytogenetic evaluation. We propose use of the compound term {open_quotes}DiGeorge/velocardiofacial (DGNCF) syndrome{close_quotes} in referring to this condition, as it calls attention to the phenotypic spectrum using historically familiar names. 41 refs., 2 figs., 2 tabs.

  18. Social Cognition Dysfunction in Adolescents with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome): Relationship with Executive Functioning and Social Competence/Functioning

    Science.gov (United States)

    Campbell, L. E.; McCabe, K. L.; Melville, J. L.; Strutt, P. A.; Schall, U.

    2015-01-01

    Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship…

  19. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  20. Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain.

    Science.gov (United States)

    Harper, Kathryn M; Hiramoto, Takeshi; Tanigaki, Kenji; Kang, Gina; Suzuki, Go; Trimble, William; Hiroi, Noboru

    2012-08-01

    Social behavior dysfunction is a symptomatic element of schizophrenia and autism spectrum disorder (ASD). Although altered activities in numerous brain regions are associated with defective social cognition and perception, the causative relationship between these altered activities and social cognition and perception-and their genetic underpinnings-are not known in humans. To address these issues, we took advantage of the link between hemizygous deletion of human chromosome 22q11.2 and high rates of social behavior dysfunction, schizophrenia and ASD. We genetically manipulated Sept5, a 22q11.2 gene, and evaluated its role in social interaction in mice. Sept5 deficiency, against a high degree of homogeneity in a congenic genetic background, selectively impaired active affiliative social interaction in mice. Conversely, virally guided overexpression of Sept5 in the hippocampus or, to a lesser extent, the amygdala elevated levels of active affiliative social interaction in C57BL/6J mice. Congenic knockout mice and mice overexpressing Sept5 in the hippocampus or amygdala were indistinguishable from control mice in novelty and olfactory responses, anxiety or motor activity. Moreover, post-weaning individual housing, an environmental condition designed to reduce stress in male mice, selectively raised levels of Sept5 protein in the amygdala and increased active affiliative social interaction in C57BL/6J mice. These findings identify this 22q11.2 gene in the hippocampus and amygdala as a determinant of social interaction and suggest that defective social interaction seen in 22q11.2-associated schizophrenia and ASD can be genetically and environmentally modified by altering this 22q11.2 gene.

  1. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

    Directory of Open Access Journals (Sweden)

    Tsutomu Ogata

    Full Text Available BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We studied three subjects with craniofacial features and hypocalcemia (group 1, two subjects with craniofacial features alone (group 2, and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459 specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain. CONCLUSIONS/SIGNIFICANCE: Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.

  2. Identifying patterns of anxiety and depression in children with chromosome 22q11.2 deletion syndrome: comorbidity predicts behavioral difficulties and impaired functional communications.

    Science.gov (United States)

    Stephenson, David D; Beaton, Elliott A; Weems, Carl F; Angkustsiri, Kathleen; Simon, Tony J

    2015-01-01

    Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder with a variable clinical presentation that can include cardiac, neural, immunological, and psychological issues. Previous studies have measured elevated anxiety and depression in children with 22q11.2DS. Comorbity of anxiety and depression is well established in the pediatric literature but the nature of comorbidity patterns has not been empirically established in children with 22q11.2DS. Comorbidity of anxiety and depression has important implications for treatment and prognosis, and may be a marker of risk in this population of children at high-risk for developing schizophrenia. Participants were 131 boys and girls ages 8-14 with (n=76) and without (n=55) 22q11.2DS and their mothers. Children and mothers independently completed self- and parent-report measures of anxiety and depression. Mothers also completed measures of behavioral functioning including the Behavioral Assessment for Children, 2nd ed. (BASC-2). Cluster analyses were conducted to test if theoretically based groupings of anxiety and depression could be identified. We hypothesized four psychological profiles based on child- and mother-reports: low/no anxiety and low/no depression, higher depression and low/no anxiety, higher anxiety and no/low depression, and a comorbid profile of higher anxiety and higher depression. BASC-2 subscale scores were then compared across subgroups of children to determine if a comorbid profile would predict greater behavioral difficulties. In the full sample of children both with and without 22q11.2DS, cluster analyses of self and maternal reported anxiety and depression revealed the expected subgroups: (1) a group of children with higher anxiety/lower depression (anxious); (2) a group with primary depression (lower anxiety/higher depression (depressed)); (3) a comorbid group with higher anxiety/higher depression (comorbid); and, (4) a lowest anxiety/lowest depression group (NP). Mothers

  3. Major Vault Protein, a Candidate Gene in 16p11.2 Microdeletion Syndrome, Is Required for the Homeostatic Regulation of Visual Cortical Plasticity.

    Science.gov (United States)

    Ip, Jacque P K; Nagakura, Ikue; Petravicz, Jeremy; Li, Keji; Wiemer, Erik A C; Sur, Mriganka

    2018-04-18

    Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. Although this region contains exons of 29 genes, disrupting only a small segment of the region, which spans five genes, is sufficient to cause autistic traits. One candidate gene in this critical segment is MVP , which encodes for the major vault protein (MVP) that has been implicated in regulation of cellular transport mechanisms. MVP expression levels in MVP +/- mice closely phenocopy those of 16p11.2 mutant mice, suggesting that MVP +/- mice may serve as a model of MVP function in 16p11.2 microdeletion. Here we show that MVP regulates the homeostatic component of ocular dominance (OD) plasticity in primary visual cortex. MVP +/- mice of both sexes show impairment in strengthening of open-eye responses after several days of monocular deprivation (MD), whereas closed-eye responses are weakened as normal, resulting in reduced overall OD plasticity. The frequency of miniature EPSCs (mEPSCs) in pyramidal neurons is decreased in MVP +/- mice after extended MD, suggesting a reduction of functional synapses. Correspondingly, upregulation of surface GluA1 AMPA receptors is reduced in MVP +/- mice after extended MD, and is accompanied by altered expression of STAT1 and phosphorylated ERK, which have been previously implicated in OD plasticity. Normalization of STAT1 levels by introducing STAT1 shRNA rescues surface GluA1 and open-eye responses, implicating STAT1 as a downstream effector of MVP. These findings demonstrate a specific role for MVP as a key molecule influencing the homeostatic component of activity-dependent synaptic plasticity, and potentially the corresponding phenotypes of 16p11.2 microdeletion syndrome. SIGNIFICANCE STATEMENT Major vault protein (MVP), a candidate gene in 16p11.2 microdeletion syndrome, has been implicated in the regulation of several cellular processes including transport mechanisms and scaffold signaling. However, its role in brain function and

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

    Science.gov (United States)

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

    2015-09-29

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

  5. MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del.

    Directory of Open Access Journals (Sweden)

    Dejian Zhao

    Full Text Available We are using induced pluripotent stem cell (iPSC technology to study neuropsychiatric disorders associated with 22q11.2 microdeletions (del, the most common known schizophrenia (SZ-associated genetic factor. Several genes in the region have been implicated; a promising candidate is DGCR8, which codes for a protein involved in microRNA (miRNA biogenesis. We carried out miRNA expression profiling (miRNA-seq on neurons generated from iPSCs derived from controls and SZ patients with 22q11.2 del. Using thresholds of p<0.01 for nominal significance and 1.5-fold differences in expression, 45 differentially expressed miRNAs were detected (13 lower in SZ and 32 higher. Of these, 6 were significantly down-regulated in patients after correcting for genome wide significance (FDR<0.05, including 4 miRNAs that map to the 22q11.2 del region. In addition, a nominally significant increase in the expression of several miRNAs was found in the 22q11.2 neurons that were previously found to be differentially expressed in autopsy samples and peripheral blood in SZ and autism spectrum disorders (e.g., miR-34, miR-4449, miR-146b-3p, and miR-23a-5p. Pathway and function analysis of predicted mRNA targets of the differentially expressed miRNAs showed enrichment for genes involved in neurological disease and psychological disorders for both up and down regulated miRNAs. Our findings suggest that: i. neurons with 22q11.2 del recapitulate the miRNA expression patterns expected of 22q11.2 haploinsufficiency, ii. differentially expressed miRNAs previously identified using autopsy samples and peripheral cells, both of which have significant methodological problems, are indeed disrupted in neuropsychiatric disorders and likely have an underlying genetic basis.

  6. Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

    Directory of Open Access Journals (Sweden)

    Egger JI

    2014-03-01

    Full Text Available Jos I M Egger,1–3 Willem M A Verhoeven,1,4 Wim Verbeeck,5 Nicole de Leeuw61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands; 2Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands; 3Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, the Netherlands; 4Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, the Netherlands; 5Vincent van Gogh Institute for Psychiatry, Centre for Autism and ADHD, Venray, the Netherlands; 6Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the NetherlandsAbstract: The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4–BP5 that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2–BP3 deletion (approximately 220 kb presenting with developmental delay, behavioral problems and mild facial dysmorphisms. Here, an adult male with a long history of maladaptive behaviors is described who was referred for diagnostic assessment of his amotivational features. Extensive neuropsychological examination demonstrated rigid thinking, anxious beliefs, and ideas of reference in the presence of normal intelligence. Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1–BP4 microdeletion that can be regarded as explanatory for his behavioral profile. It is concluded that microdeletion syndromes are not exclusively related to intellectual disabilities and

  7. Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Vangkilde, A; Jepsen, J M R; Schmock, H

    2016-01-01

    -related symptoms. The aims of this study were to conduct a comprehensive investigation of social impairments at three different levels (function, skill, and cognition) and their interrelationship and to determine to what degree the social impairments correlate to subclinical levels of negative and positive...... symptoms, respectively, in a young cohort of 22q11.2DS not diagnosed with schizophrenia. METHODS: The level of social impairment was addressed using questionnaires and objective measures of social functioning (The Adaptive Behavior Assessment System), skills (Social Responsiveness Scale), and cognition....... Association between social impairment and negative and positive symptoms levels was examined in cases only. RESULTS: Subjects with 22q11.2DS were highly impaired in social function, social skills, and social cognition (p ≤ 6.2 × 10(-9)) relative to control peers and presented with more negative (p = 5.8 × 10...

  8. A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15(p11.2;q22.1

    Directory of Open Access Journals (Sweden)

    Dalvi Rupa

    2016-01-01

    Full Text Available BACKGROUND: Balanced non-robertsonian translocation (RT, involving acrocentric chromosomes, is a rare event and only a few cases are reported. Most of the RTs are balanced involving acrocentric chromosomes with the breakpoints (q10;q10. MATERIALS AND METHODS: Chromosome analysis was performed as per standard procedure – Giemsa-trypsin banding with 500 band resolution was analyzed for chromosome identification. RESULTS: In the present study, we report a rare balanced non-RTs involving chromosomes 13 and 15 with cytogenetic finding of 46, XX, t(13;15(p11.2;q22.1. CONCLUSION: To the best of our knowledge, this is the first such report of an unusual non-RT of t(13:15 with (p11.2;q22.1 break points.

  9. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: Specific deficit in serial order retention capacities?

    OpenAIRE

    Majerus, Steve; Van der Linden, Martial; Braissand, V.; Eliez, S.

    2007-01-01

    Many researchers have recently explored the cognitive profile of velocardiofacial syndrome (VCFS), a neurodevelopmental disorder linked to a 22q11.2 deletion. However, verbal short-term memory has not yet been systematically investigated. We explored verbal short-term memory abilities in a group of 11 children and adults presenting with VCFS and two control groups, matched on either CA or vocabulary knowledge, by distinguishing short-term memory for serial order and item information. The VCFS...

  10. Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

    OpenAIRE

    Tonelli, Adriano R; Kosuri, Kalyan; Wei, Sainan; Chick, Davoren

    2007-01-01

    Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 4...

  11. Improvement of optical quality of semipolar (11 2 ¯ 2 ) GaN on m-plane sapphire by in-situ epitaxial lateral overgrowth

    Science.gov (United States)

    Monavarian, Morteza; Izyumskaya, Natalia; Müller, Marcus; Metzner, Sebastian; Veit, Peter; Can, Nuri; Das, Saikat; Özgür, Ümit; Bertram, Frank; Christen, Jürgen; Morkoç, Hadis; Avrutin, Vitaliy

    2016-04-01

    Among the major obstacles for development of non-polar and semipolar GaN structures on foreign substrates are stacking faults which deteriorate the structural and optical quality of the material. In this work, an in-situ SiNx nano-network has been employed to achieve high quality heteroepitaxial semipolar (11 2 ¯ 2 ) GaN on m-plane sapphire with reduced stacking fault density. This approach involves in-situ deposition of a porous SiNx interlayer on GaN that serves as a nano-mask for the subsequent growth, which starts in the nanometer-sized pores (window regions) and then progresses laterally as well, as in the case of conventional epitaxial lateral overgrowth (ELO). The inserted SiNx nano-mask effectively prevents the propagation of defects, such as dislocations and stacking faults, in the growth direction and thus reduces their density in the overgrown layers. The resulting semipolar (11 2 ¯ 2 ) GaN layers exhibit relatively smooth surface morphology and improved optical properties (PL intensity enhanced by a factor of 5 and carrier lifetimes by 35% to 85% compared to the reference semipolar (11 2 ¯ 2 ) GaN layer) which approach to those of the c-plane in-situ nano-ELO GaN reference and, therefore, holds promise for light emitting and detecting devices.

  12. Histology of the pharyngeal constrictor muscle in 22q11.2 deletion syndrome and non-syndromic children with velopharyngeal insufficiency.

    Directory of Open Access Journals (Sweden)

    Josine C C Widdershoven

    Full Text Available Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. Histologic properties were compared between the groups. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed.

  13. Electronic structure of structural open derivatives of the [Mo6X14]2- cluster: [Mo5Cl13]2- and [Mo4I11]2-

    International Nuclear Information System (INIS)

    Miessner, H.; Korol'kov, D.V.

    1983-01-01

    The electronic structure of structural open derivatives of the [Mo 6 X 14 ] 2 - -cluster [Mo 5 Cl 13 ] 2 - and [Mo 4 I 11 ] 2 - has been studied by the EHMO method. In [Mo 5 Cl 13 ] 2 - 9 occupied MO's with dominant Mo4d character are responsible for the formation of the 8 metal-metal bonds. In [Mo 4 I 11 ] 2 - the stronger covalent character of the Mo-I bonds affects the localization and the energy of molecular orbitals and also the charge distribution. The metal-metal bonds are formed by 8 MO's containing considerable participation of halogen AO's contrary to the chloride cluster. There is no bonding between the Mo atoms at the wing tips of the Mo 4 butterfly and the reason for decreasing the dihedral angle between the Mo 3 planes in [Mo 4 I 11 ] 2 - compared with the octahedral angle is apparently the stabilization of the whole system (Mo-Mo and Mo-I bonds). The unpaired electron occupies in both clusters a slightly antibonding (with regard to the Mo-Mo bonds) orbital. (author)

  14. Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study

    Directory of Open Access Journals (Sweden)

    Nicole E Spruijt

    2014-09-01

    Full Text Available BackgroundSpeech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history and current self-reported speech rating of adolescents and young adults, and examine the possible variables influencing the current speech ratings, including cleft palate, surgery, speech and language therapy, intelligence quotient, and age at assessment.MethodsIn this cross-sectional cohort study, 50 adolescents and young adults with the 22q11.2 deletion syndrome (ages, 12-26 years, 67% female filled out questionnaires. A neuropsychologist administered an age-appropriate intelligence quotient test. The demographics, histories, and intelligence of patients with normal speech (speech rating=1 were compared to those of patients with different speech (speech rating>1.ResultsOf the 50 patients, a minority (26% had a cleft palate, nearly half (46% underwent a pharyngoplasty, and all (100% had speech and language therapy. Poorer speech ratings were correlated with more years of speech and language therapy (Spearman's correlation= 0.418, P=0.004; 95% confidence interval, 0.145-0.632. Only 34% had normal speech ratings. The groups with normal and different speech were not significantly different with respect to the demographic variables; a history of cleft palate, surgery, or speech and language therapy; and the intelligence quotient.ConclusionsAll adolescents and young adults with the 22q11.2 deletion syndrome had undergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech and language therapy for more years.

  15. A Small Fullerene (C{sub 24}) may be the Carrier of the 11.2 μ m Unidentified Infrared Band

    Energy Technology Data Exchange (ETDEWEB)

    Bernstein, L. S.; Shroll, R. M. [Spectral Sciences, Inc., 4 Fourth Ave., Burlington, MA 01803 (United States); Lynch, D. K. [Thule Scientific, P.O. Box 953, Topanga, CA 90290 (United States); Clark, F. O., E-mail: larry@spectral.com, E-mail: rshroll@spectral.com, E-mail: dave@caltech.edu, E-mail: frank.clark@gmail.com [Wopeco Research, 125 South Great Road, Lincoln, MA 01773 (United States)

    2017-02-20

    We analyze the spectrum of the 11.2 μ m unidentified infrared band (UIR) from NGC 7027 and identify a small fullerene (C{sub 24}) as a plausible carrier. The blurring effects of lifetime and vibrational anharmonicity broadening obscure the narrower, intrinsic spectral profiles of the UIR band carriers. We use a spectral deconvolution algorithm to remove the blurring, in order to retrieve the intrinsic profile of the UIR band. The shape of the intrinsic profile—a sharp blue peak and an extended red tail—suggests that the UIR band originates from a molecular vibration–rotation band with a blue band head. The fractional area of the band-head feature indicates a spheroidal molecule, implying a nonpolar molecule and precluding rotational emission. Its rotational temperature should be well approximated by that measured for nonpolar molecular hydrogen, ∼825 K for NGC 7027. Using this temperature, and the inferred spherical symmetry, we perform a spectral fit to the intrinsic profile, which results in a rotational constant implying C{sub 24} as the carrier. We show that the spectroscopic parameters derived for NGC 7027 are consistent with the 11.2 μ m UIR bands observed for other objects. We present density functional theory (DFT) calculations for the frequencies and infrared intensities of C{sub 24}. The DFT results are used to predict a spectral energy distribution (SED) originating from absorption of a 5 eV photon, and characterized by an effective vibrational temperature of 930 K. The C{sub 24} SED is consistent with the entire UIR spectrum and is the dominant contributor to the 11.2 and 12.7 μ m bands.

  16. Fine mapping of genetic polymorphisms of pulmonary tuberculosis within chromosome 18q11.2 in the Chinese population: a case-control study

    Directory of Open Access Journals (Sweden)

    Dai Yaoyao

    2011-10-01

    Full Text Available Abstract Background Recently, one genome-wide association study identified a susceptibility locus of rs4331426 on chromosome 18q11.2 for tuberculosis in the African population. To validate the significance of this susceptibility locus in other areas, we conducted a case-control study in the Chinese population. Methods The present study consisted of 578 cases and 756 controls. The SNP rs4331426 and other six tag SNPs in the 100 Kbp up and down stream of rs4331426 on chromosome 18q11.2 were genotyped by using the Taqman-based allelic discrimination system. Results As compared with the findings from the African population, genetic variation of the SNP rs4331426 was rare among the Chinese. No significant differences were observed in genotypes or allele frequencies of the tag SNPs between cases and controls either before or after adjusting for age, sex, education, smoking, and drinking history. However, we observed strong linkage disequilibrium of SNPs. Constructed haplotypes within this block were linked the altered risks of tuberculosis. For example, in comparison with the common haplotype AA(rs8087945-rs12456774, haplotypes AG(rs8087945-rs12456774 and GA(rs8087945-rs12456774 were associated with a decreased risk of tuberculosis, with the adjusted odds ratio(95% confidence interval of 0.34(0.27-0.42 and 0.22(0.16-0.29, respectively. Conclusions Susceptibility locus of rs4331426 discovered in the African population could not be validated in the Chinese population. None of genetic polymorphisms we genotyped were related to tuberculosis in the single-point analysis. However, haplotypes on chromosome 18q11.2 might contribute to an individual's susceptibility. More work is necessary to identify the true causative variants of tuberculosis.

  17. A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

    Science.gov (United States)

    Armour, Christine M; McGowan-Jordan, Jean; Lawrence, Sarah E; Bouchard, Amélie; Basik, Mark; Allanson, Judith E

    2008-01-01

    We report on a girl with partial deletion of Xp and partial duplication of 22q. Family studies demonstrate that both the patient's mother and her nonidentical twin sister carry the corresponding balanced translocation; 46,X,t(X;22)(p11.4;q11.2). This girl has developmental delay, microcephaly, mild dysmorphisms and hearing loss but otherwise shows few of the features described in individuals with duplications of the long arm of chromosome 22. She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome.

  18. Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome

    DEFF Research Database (Denmark)

    Didriksen, Michael; Fejgin, Kim; Nilsson, Simon R O

    2016-01-01

    BACKGROUND: The hemizygous 22q11.2 microdeletion is a common copy number variant in humans. The deletion confers high risk for neurodevelopmental disorders, including autism and schizophrenia. Up to 41% of deletion carriers experience psychotic symptoms. METHODS: We present a new mouse model (Df...... displayed increased amplitude of loudness-dependent auditory evoked potentials. Prefrontal cortex and dorsal striatal elevations of the dopamine metabolite DOPAC and increased dorsal striatal expression of the AMPA receptor subunit GluR1 was found. The Df(h22q11)/+ mice did not deviate from wild-type mice...

  19. Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome

    DEFF Research Database (Denmark)

    Didriksen, Michael; Fejgin, Kim; Nilsson, Simon R O

    2017-01-01

    Background: The hemizygous 22q11.2 microdeletion is a common copy number variant in humans. The deletion confers high risk for neurodevelopmental disorders, including autism and schizophrenia. Up to 41% of deletion carriers experience psychotic symptoms. Methods: We present a new mouse model (Df...... displayed increased amplitude of loudness-dependent auditory evoked potentials. Prefrontal cortex and dorsal striatal elevations of the dopamine metabolite DOPAC and increased dorsal striatal expression of the AMPA receptor subunit GluR1 was found. The Df(h22q11)/+ mice did not deviate from wild-type mice...

  20. The effect of visual arrangement on visuospatial short-term memory: Insights from children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Attout, Lucie; Noël, Marie-Pascale; Rousselle, Laurence

    2018-04-11

    Recent models of visuospatial (VSSP) short-term memory postulate the existence of two dissociable mechanisms depending on whether VSSP information is presented simultaneously or sequentially. However, they do not specify to what extent VSSP short-term memory is under the influence of general VSSP processing. This issue was examined in people with 22q11.2 deletion syndrome, a genetic condition involving a VSSP deficit. The configuration of VSSP information was manipulated (structured vs. unstructured) to explore the impact of arrangement on VSSP short-term memory. Two presentation modes were used to see whether the VSSP arrangement has the same impact on simultaneous and sequential short-term memory. Compared to children matched on chronological age, children with 22q11.2 deletion syndrome showed impaired performance only for structured arrangement, regardless of the presentation mode, suggesting an influence of VSSP processing on VSSP short-term memory abilities. A revised cognitive architecture for a model of VSSP short-term memory is proposed.

  1. Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

    Directory of Open Access Journals (Sweden)

    Tonelli Adriano R

    2007-12-01

    Full Text Available Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. His initial laboratory examination showed hypocalcemia (Calcium 5.2 mg/dl and Calcium ionized 0.69 mmol/l with hypoparathyroidism (Parathyroid hormone intact Conclusion Microdeletion of chromosome 22q11.2 is among the most clinically variable syndromes, with more than 180 features associated with the deletion. It has a variable phenotypical expression, requiring a high level of awareness for its early diagnosis. Seizures, related to marked hypocalcemia due to idiopathic hypoparathyroidism, might be the presenting feature in an adult patient with this syndrome.

  2. A case of schizophrenia comorbid for tetralogy of Fallot treated with clozapine: further considerations on a role for 22q.11.2 in the proneness for seizures

    Directory of Open Access Journals (Sweden)

    Kashiwagi H

    2017-08-01

    Full Text Available Hiroko Kashiwagi,1 Satoru Ikezawa,2 Tomiki Sumiyoshi,3 Atsuko Kadono,4 Kazuhiko Segawa,5 Kazuyoshi Takeda,1 Mayu Omori,1 Hisako Taguchi,1 Naotsugu Hirabayashi1 1Department of Forensic Psychiatry, 2Department of Psychiatry, 3Department of Clinical Epidemiology, Translational Medical Center, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, 4Saitama Psychiatric Medical Center, Kitaadatigun, Saitama, 5Department of General Medicine, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract: We present a case of schizophrenia comorbid for tetralogy of Fallot, without chromosome 22q.11.2 deletion or duplication, treated successfully with a combination of clozapine and antiepileptic drugs. Although clozapine by itself initially triggered convulsive seizures, we continued it with co-administration of valproate and topiramate. This combined treatment did not affect cardiac function of the patient, who experienced a favorable clinical course in terms of symptomatology and functional outcomes. To our knowledge, we provide the first report on a patient with tetralogy of Fallot, in whom 22q.11.2 was not deleted and clozapine-induced seizures were observed. Keywords: schizophrenia, clozapine, tetralogy of Fallot, seizure, copy number variants

  3. Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Thomas Portmann

    2014-05-01

    Full Text Available A deletion on human chromosome 16p11.2 is associated with autism spectrum disorders. We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput single-cell transcriptomics revealed anatomical and cellular abnormalities, particularly in cortex and striatum of juvenile mutant mice (16p11+/−. We found elevated numbers of striatal medium spiny neurons (MSNs expressing the dopamine D2 receptor (Drd2+ and fewer dopamine-sensitive (Drd1+ neurons in deep layers of cortex. Electrophysiological recordings of Drd2+ MSN revealed synaptic defects, suggesting abnormal basal ganglia circuitry function in 16p11+/− mice. This is further supported by behavioral experiments showing hyperactivity, circling, and deficits in movement control. Strikingly, 16p11+/− mice showed a complete lack of habituation reminiscent of what is observed in some autistic individuals. Our findings unveil a fundamental role of genes affected by the 16p11.2 deletion in establishing the basal ganglia circuitry and provide insights in the pathophysiology of autism.

  4. Birinci basamak Helikobakter pilori eradikasyon tedavisinde 7 ve 14 günlük lansoprazol, amoksisilin, metronidazol protokolünün karşılaştırılması

    OpenAIRE

    UYGUN, Ahmet; KANTARCIOĞLU, Murat; POLAT, Zülfikar; KİLCİLER, Güldem; GÜLŞEN, Mustafa

    2010-01-01

    Giriş ve Amaç: Ülkemizde günümüzde birinci basamak Helikobakter pilori eradikasyon tedavisinde protokollerin süresi ve eradikasyon oranları konusunda tartışmalar sürmektedir. Bu çalışmadaki amacımız; nonülser dispepsili Helikobakter pilori pozitif hastalarda lansoprazol, amoksisilin, metronidazol'den oluşan 7 ve 14 günlük tedavi protokollerinin eradikasyon oranlarını karşılaştırmaktır. Gereç ve Yöntem: Çalışmaya Helikobakter pilori pozitif nonülser dispepsili 180 hasta (84 kadın,...

  5. Helicobacter pylori eradikasyon tedavisinde 7 ve 14 günlük lansoprazol, amoksisilin, klaritromisin protokolünün karşılaştırılması

    OpenAIRE

    UYGUN, Ahmet; TÜZÜN, Ahmet; YEŞİLOVA, Zeki; ASLAN, Murat; ATEŞ, Yüksel; POLAT, Zülfikar; ERDİL, Ahmet; BAĞCI, Sait; GÜNHAN, Ömer; GÜLŞEN, Mustafa; DAĞALP, Kemal

    2015-01-01

    Giriş ve amaç: Günümüzde birinci basamak Helicobacter pylori (Hp) eradikasyon tedavisinde protokollerin süresi ve eradikasyon oranları konusunda tartışmalar sürmektedir. Bu çalışmadaki amacımız; nonülser dispepsili Hp pozitif hastalarda lansoprazol, klaritromisin ve amoksisilin'den oluşan 7 ve 14 günlük tedavi protokollerinin eradikasyon oranları nı karşılaştırmaktır. Gereç ve yöntem: Çalışmaya Hp pozitif nonülser dispepsili 188 hasta (92 kadın, 96 erkek, ortalama yaş 44.8 yıl) alı...

  6. Measurements of the ground state ionization energy and wavelengths for the 2l-nl' transitions of Ni XIX (n=4-15) and Ge XXIII (n=7-9)

    Energy Technology Data Exchange (ETDEWEB)

    Biemont, E. [Institut de Physique Nucleaire Experimentale, Universite de Liege, B-4000 Liege (Belgium); Universite de Mons-Hainaut, B-7000 Mons (Belgium). E-mail: e.biemont at ulg.ac.be; Magunov, A.I.; Dyakin, V.M.; Faenov, A.Y.; Pikuz, T.A.; Skobelev, I.Y. [Multicharged Ions Spectra Data Center of VNIIFTRI, Mendeleevo, 141570 Moscow region (Russian Federation); Osterheld, A.L.; Goldstein, W.H. [Lawrence Livermore National Laboratory, Livermore, CA 94550 (United States); Flora, F.; DiLazzaro, P.; Bollanti, S.; Lisi, N.; Letardi, T. [ENEA, Frascati Center, Department of Innovation Technologies, Frascati (Italy); Reale, A.; Palladino, L. [Dip. Fisica Universita dell' Aquila e INFN, g.c. LNGS, L' Aquila (Italy); Batani, D.; Mauri, A. [Dip. di Fisica Universita di Milano e INFN, Sezione di Milano (Italy); Scafati, A.; Reale, L. [Lab. di Fisica, Instituto Superiore di Sanita e INFN, Rome (Italy)

    2000-06-14

    The wavelengths of the 2l-nl' (n=4-15) spectral lines of Ne-like Ni XIX and Ge XXIII were measured in laser-produced plasmas. The accuracy of these measurements (0.5-2.5 mA) is a large improvement over previous results, and a number of transitions (mainly from levels with n=8-15) were observed for the first time. The 2p{sub 3/2}-nd{sub 5/2} and 2p{sub 1/2}-nd{sub 3/2} Rydberg series were used to determine the first two ionization limits of the ground states of Ni XIX and Ge XXIII. Effects of configuration interaction were observed in the intensities of some spectral lines. (author)

  7. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

    Science.gov (United States)

    Moreno-De-Luca, Andres; Evans, David W; Boomer, K B; Hanson, Ellen; Bernier, Raphael; Goin-Kochel, Robin P; Myers, Scott M; Challman, Thomas D; Moreno-De-Luca, Daniel; Slane, Mylissa M; Hare, Abby E; Chung, Wendy K; Spiro, John E; Faucett, W Andrew; Martin, Christa L; Ledbetter, David H

    2015-02-01

    Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood. To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs. Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 deletions and their noncarrier parents and siblings from the Simons Variation in Individuals Project. We used linear mixed-model analysis to measure effect size and intraclass correlation to determine the influence of family background for a de novo CNV on quantitative traits representing the following 3 neurodevelopmental domains: cognitive ability (Full-Scale IQ), social behavior (Social Responsiveness Scale), and neuromotor performance (Purdue Pegboard Test). We included an anthropometric trait, body mass index, for comparison. A significant deleterious effect of the 16p11.2 deletion was demonstrated across all domains. Relative to the biparental mean, the effect sizes were -1.7 SD for cognitive ability, 2.2 SD for social behavior, and -1.3 SD for neuromotor performance (P siblings, with an intraclass correlation of 0.40 (P = .07). Analysis of families with de novo CNVs provides the least confounded estimate of the effect size of the 16p11.2 deletion on heritable, quantitative traits and demonstrates a 1- to 2-SD effect across all neurodevelopmental dimensions. Significant parent-proband correlations indicate that family background contributes to the phenotypic variability seen in this and perhaps other CNV disorders and may have implications for counseling families regarding their children's developmental and

  8. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: specific deficit in serial order retention capacities?

    Science.gov (United States)

    Majerus, Steve; Van der Linden, Martial; Braissand, Vérane; Eliez, Stephan

    2007-03-01

    Many researchers have recently explored the cognitive profile of velocardiofacial syndrome (VCFS), a neurodevelopmental disorder linked to a 22q11.2 deletion. However, verbal short-term memory has not yet been systematically investigated. We explored verbal short-term memory abilities in a group of 11 children and adults presenting with VCFS and two control groups, matched on either CA or vocabulary knowledge, by distinguishing short-term memory for serial order and item information. The VCFS group showed impaired performance on the serial order short-term memory tasks compared to both control groups. Relative to the vocabulary-matched control group, item short-term memory was preserved. The implication of serial order short-term memory deficits on other aspects of cognitive development in VCFS (e.g., language development, numerical cognition) is discussed.

  9. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

    Science.gov (United States)

    Falah, Nadia; Posey, Jennifer E; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R; Harel, Tamar

    2017-04-01

    Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations. Our data suggest that SOX10 duplication can cause disorders of sex development and PCWH, supporting the hypothesis that SOX10 toxic gain of function rather than dominant negative activity underlies PCWH. © 2017 Wiley Periodicals, Inc.

  10. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk

    Science.gov (United States)

    Broderick, Peter; Chen, Bowang; Johnson, David C; Försti, Asta; Vijayakrishnan, Jayaram; Migliorini, Gabriele; Dobbins, Sara E; Holroyd, Amy; Hose, Dirk; Walker, Brian A; Davies, Faith E; Gregory, Walter A; Jackson, Graham H; Irving, Julie A; Pratt, Guy; Fegan, Chris; Fenton, James AL; Neben, Kai; Hoffmann, Per; Nöthen, Markus M; Mühleisen, Thomas W; Eisele, Lewin; Ross, Fiona M; Straka, Christian; Einsele, Hermann; Langer, Christian; Dörner, Elisabeth; Allan, James M; Jauch, Anna; Morgan, Gareth J; Hemminki, Kari; Houlston, Richard S; Goldschmidt, Hartmut

    2016-01-01

    To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 cases and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P=8.70x10-14), 6p21.33 (rs2285803, PSORS1C2; P= 9.67x10-11), 17p11.2 (rs4273077, TNFRSF13B; P=7.67x10-9) and 22q13.1 (rs877529, CBX7; P=7.63x10-16). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy and insight into the biological basis of predisposition. PMID:23955597

  11. MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions.

    Science.gov (United States)

    Park, Sang Mee; Park, Hae Ryoun; Lee, Ji Hye

    2017-02-01

    Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled , a Drosophila homolog of human mitogen-activated protein kinase 3 ( MAPK3 ) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gα q , and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93 . In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2 , Gα q , and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.

  12. Determination of the Azimuthal Asymmetry of Deuteron Photodisintegration in the Energy Region Eγ = 1.1 - 2.3 GeV

    Energy Technology Data Exchange (ETDEWEB)

    Zachariou, Nicholas [George Washington Univ., Washington, DC (United States)

    2012-05-20

    Deuteron photodisintegration is a benchmark process for the investigation of the role of quarks and gluons in nuclei. Existing theoretical models of this process describe the available cross sections with the same degree of success. Therefore, spin-dependent observables are crucial for a better understanding of the underlying dynamical mechanisms. However, data on the induced polarization (P y), along with the polarization transfers (Cx and Cz ), have been shown to be insensitive to differences between theoretical models. On the other hand, the beam-spin asymmetry {Sigma} is predicted to have a large sensitivity and is expected to help in identifying the energy at which the transition from the hadronic to the quark-gluon picture of the deuteron takes place. Here, the work done to determine the experimental values of the beam-spin asymmetry in deuteron photodisintegration for photon energies between 1.1 - 2.3 GeV is presented. The data were taken with the CLAS at the Thomas Jefferson National Accelerator Facility during the g13 experiment. Photons with linear polarization of ~80% were produced using the coherent bremsstrahlung facility in Hall B. The work done by the author to calibrate a specific detector system, select deuteron photodisintegration events, study the degree of photon polarization, and finally determine the azimuthal asymmetry and any systematic uncertainties associate with it, is comprehensively explained. This work shows that the collected data provide the kinematic coverage and statistics to test the available QCD-based models. The results of this study show that the available theoretical models in their current state do not adequately predict the azimuthal asymmetry in the energy region 1.1 - 2.3 GeV.

  13. The human MCP-2 gene (SCYA8): Cloning, sequence analysis, tissue expression, and assignment to the CC chemokine gene contig on chromosome 17q11.2

    Energy Technology Data Exchange (ETDEWEB)

    Van Coillie, E.; Fiten, P.; Van Damme, J.; Opdenakker, G. [Univ. of Leuven (Belgium)] [and others

    1997-03-01

    Monocyte chemotactic proteins (MCPs) form a subfamily of chemokines that recruit leukocytes to sites of inflammation and that may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. With the use of degenerate primers that were based on CC chemokine consensus sequences, the known MIP-1{alpha}/LD78{alpha}, MCP-1, and MCP-3 genes and the previously unidentified eotaxin and MCP-2 genes were isolated from a YAC contig from human chromosome 17q11.2. The amplified genomic MCP-2 fragment was used to isolate an MCP-2 cosmid from which the gene sequence was determined. The MCP-2 gene shares with the MCP-1 and MCP-3 genes a conserved intron-exon structure and a coding nucleotide sequence homology of 77%. By Northern blot analysis the 1.0-kb MCP-2 mRNA was predominantly detectable in the small intestine, peripheral blood, heart, placenta, lung, skeletal muscle, ovary, colon, spinal cord, pancreas, and thymus. Transcripts of 1.5 and 2.4 kb were found in the testis, the small intestine, and the colon. The isolation of the MCP-2 gene from the chemokine contig localized it on YAC clones of chromosome 17q11.2, which also contain the eotaxin, MCP-1, MCP-3, and NCC-1/MCP-4 genes. The combination of using degenerate primer PCR and YACs illustrates that novel genes can efficiently be isolated from gene cluster contigs with less redundancy and effort than the isolation of novel ESTs. 42 refs., 5 figs., 2 tabs.

  14. Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el Síndrome de DiGeorge = Cytogenetic evaluation and loss of heterozigocity of chromosome 22q11.2 in patients with the DiGeorge syndrome

    Directory of Open Access Journals (Sweden)

    Gallego García, Germán Andreo

    2011-09-01

    Full Text Available Objetivo: evaluar la utilidad de la PCR para marcadores microsatélites (PCR-STR en la región 22q11.2 en el ADN genómico, para identificar microdeleciones en pacientes con síndrome de DiGeorge (SDG. Materiales y Métodos: se hizo un análisis de las historias clínicas de tres niñas con SDG y se investigaron deleciones en el cromosoma 22q11.2 mediante FISH y PCR-STR. Resultados: la FISH logró detectar deleciones en 22q11.2 en dos de las tres pacientes. Por su parte, por medio de la PCR-STR, se logró establecer que la paciente n.º 1 presentaba una deleción de 1,5 Mb proximal al centrómero, la segunda de mayor frecuencia en los pacientes con SDG. La deleción fue de origen paterno. Para caracterizar el defecto molecular en las otras pacientes, sería necesario acoplar estudios de cromatografía a este método, que permitan determinar el tamaño molecular de cada uno de los alelos parentales, o bien, ampliar este análisis con más microsatélites informativos ubicados en la región 22q11.2 para así definir más precisamente el tamaño de la deleción. Conclusiones: la PCR-STR en el ADN genómico es una alternativa para identificar deleciones que afectan microsatélites en la región 22q11.2 a un menor costo que la FISH y con resultados más rápidos; al mismo tiempo permite definir el origen parental y el tamaño de la microdeleción. Esta información es valiosa para identificar los genes asociados con las características clínicas del síndrome.

  15. Çokkültürlülük ve Yurtseverlik Bağlamında Azınlık Öğrencilerinin Tarih Dersleriyle İlgili Algıları

    Directory of Open Access Journals (Sweden)

    Fatih YAZICI

    2015-10-01

    Full Text Available Bu araştırmada, Türkiye’deki azınlık okullarına devam eden lise öğrencilerinin tarih dersleriyle ilgili görüşlerinin çokkültürlülük ve yurtseverlik bağlamında değerlendirilmesi amaçlanmıştır. Araştırmanın çalışma grubunu kasti örneklem yöntemiyle seçilen, İstanbul’un çeşitli ilçelerindeki azınlık okulunda öğrenim gören 199 öğrenci oluşturmaktadır. Bu çalışma grubundan veri toplamak amacıyla araştırmacılar tarafından geliştirilen Çokkültürlülük Tutum Ölçeği, Yurtseverlik Ölçeği ve tarih derslerini kendi kimlikleri açısından değerlendirmelerini amaçlayan bir anket uygulanmıştır. Verilerin analizinde aritmetik ortalama, standart sapma ve t-testi kullanılmıştır. Araştırmaya katılan öğrencilerin çoğunluğu tarih derslerinde kendi kültürel kimliklerinin yeterince yer bulamadığını, bu kimliklere yer veren bölümlerde ise ötekileştirici bir söylemin kullanıldığını belirtmişlerdir. Tarih dersleri, kültürel farklılığa sahip öğrenciler için bu şekliyle, yurtseverlik duygusu oluşturmanın uzağında kalmaktadır.Anahtar Kelimeler: Tarih Öğretimi, Çokkültürlülük, Yurtseverlik, Çokkültürlü Eğitim, Azınlık Okulları PERCEPTION of MINORITY STUDENTS about HISTORY LESSONS in the CONTEXT of MULTICULTURALISM and PATRIOTISMAbstract: The purpose of this study is to evaluate perceptions of students who attend minority school with respect to history lessons in the context of multiculturalism and patriotism in Turkey. The study group consists of intentionally chosen 199 students attending at different minority schools in Istanbul. Survey method was used in this study. The Multiculturalism Attitude Scale, Patriotism Scale and a questionnaire, developed by the researchers, examining cultural diversity in history lessons were used. In analyzing date, t- test, arithmetic mean and standard deviation were used. The findings of the study indicated

  16. CCQM-K11.2 determination of glucose in human serum and CCQM-K12.2 determination of creatinine in human serum

    Science.gov (United States)

    Wise, Stephen A.; Phinney, Karen W.; Duewer, David L.; Sniegoski, Lorna T.; Welch, Michael J.; Pritchett, Jeanita; Pabello, Guiomar; Avila Calderon, Marco A.; Balderas, Miryan; Qinde, Liu; Kooi, Lee Tong; Rego, Eliane; Garrido, Bruno; Allegri, Gabriella; de La Cruz, Marcia; Barrabin, Juliana; Monteiro, Tânia; Lee, Hwashim; Kim, Byungjoo; Delatour, Vincent; Peignaux, Maryline; Kawaguchi, Migaku; Bei, Xu; Can, Quan; Nammoonnoy, Jintana; Schild, Katrin; Ohlendorf, Rüdiger; Henrion, Andre; Ceyhan Gören, Ahmet; Yılmaz, Hasibe; Bilsel, Mine; Konopelko, L.; Krylov, A.; Lopushanskaya, E.

    2018-01-01

    Glucose and creatinine are two of the most frequently measured substances in human blood/serum for assessing the health status of individuals. Because of their clinical significance, CCQM-K11 glucose in human serum and CCQM-K12 creatinine in human serum were the fourth and fifth key comparisons (KCs) performed by the Organic Analysis Working Group (OAWG). These KCs were conducted in parallel and were completed in 2001. The initial subsequent KCs for glucose, CCQM-K11.1, and creatinine, CCQM-K12.1, were completed in 2005. Measurements for the next KCs for these two measurands, CCQM-K11.2 and CCQM-K12.2, were completed in 2013. While designed as subsequent KCs, systematic discordances between the participants' and the anchor institution's results in both comparisons lead the OAWG to request reference results from two experienced laboratories that had participated in the 2001 comparisons. Based on the totality of the available information, the OAWG converted both CCQM-K11.2 and CCQM-K12.2 to 'Track C' KCs where the key comparison reference value is estimated by consensus. These comparisons highlighted that carrying out comparisons for complex chemical measurements and expecting to be able to treat them under the approaches used for formal CIPM subsequent comparisons is not an appropriate strategy. The approach used here is a compromise to gain the best value from the comparison; it is not an approach that will be used in the future. Instead, the OAWG will focus on Track A and Track C comparisons that are treated as stand-alone entities. Participation in CCQM-K11.2 demonstrates a laboratory's capabilities to measure a polar (pKow > 2), low molecular mass (100 g/mol to 500 g/mol) metabolite in human serum at relatively high concentrations (0.1 mg/g to 10 mg/g). Participation in CCQM-K12.2 demonstrates capabilities to measure similar classes of metabolites at relatively low concentrations (1 μg/g to 30 μg/g). The capabilities required for the analysis of complex

  17. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15(q27;q11.2 associated with Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Slater Howard R

    2005-05-01

    Full Text Available Abstract Background Prader-Willi syndrome (MIM #176270; PWS is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15(q27;q11.2. Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

  18. Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

    Directory of Open Access Journals (Sweden)

    Marina Konyukh

    Full Text Available BACKGROUND: Autism spectrum disorders (ASD are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate. METHODOLOGY/PRINCIPAL FINDINGS: We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP, complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls. CONCLUSIONS/SIGNIFICANCE: Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.

  19. Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.

    Science.gov (United States)

    Shashi, V; Harrell, W; Eack, S; Sanders, C; McConkie-Rosell, A; Keshavan, M S; Bonner, M J; Schoch, K; Hooper, S R

    2015-10-01

    Children with chromosome 22q11.2 deletion syndrome (22q11DS) often have deficits in social cognition and social skills that contribute to poor adaptive functioning. These deficits may be of relevance to the later occurrence of serious psychiatric illnesses such as schizophrenia. Yet, there are no evidence-based interventions to improve social cognitive functioning in children with 22q11DS. Using a customised social cognitive curriculum, we conducted a pilot small-group-based social cognitive training (SCT) programme in 13 adolescents with 22q11DS, relative to a control group of nine age- and gender-matched adolescents with 22q11DS. We found the SCT programme to be feasible, with high rates of compliance and satisfaction on the part of the participants and their families. Our preliminary analyses indicated that the intervention group showed significant improvements in an overall social cognitive composite index. SCT in a small-group format for adolescents with 22q11DS is feasible and results in gains in social cognition. A larger randomised controlled trial would permit assessment of efficacy of this promising novel intervention. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  20. Deviant dynamics of EEG resting state pattern in 22q11.2 deletion syndrome adolescents: A vulnerability marker of schizophrenia?

    Science.gov (United States)

    Tomescu, Miralena I; Rihs, Tonia A; Becker, Robert; Britz, Juliane; Custo, Anna; Grouiller, Frédéric; Schneider, Maude; Debbané, Martin; Eliez, Stephan; Michel, Christoph M

    2014-08-01

    Previous studies have repeatedly found altered temporal characteristics of EEG microstates in schizophrenia. The aim of the present study was to investigate whether adolescents affected by the 22q11.2 deletion syndrome (22q11DS), known to have a 30 fold increased risk to develop schizophrenia, already show deviant EEG microstates. If this is the case, temporal alterations of EEG microstates in 22q11DS individuals could be considered as potential biomarkers for schizophrenia. We used high-density (204 channel) EEG to explore between-group microstate differences in 30 adolescents with 22q11DS and 28 age-matched controls. We found an increased presence of one microstate class (class C) in the 22q11DS adolescents with respect to controls that was associated with positive prodromal symptoms (hallucinations). A previous across-age study showed that the class C microstate was more present during adolescence and a combined EEG-fMRI study associated the class C microstate with the salience resting state network, a network known to be dysfunctional in schizophrenia. Therefore, the increased class C microstates could be indexing the increased risk of 22q11DS individuals to develop schizophrenia if confirmed by our ongoing longitudinal study comparing both the adult 22q11DS individuals with and without schizophrenia, as well as schizophrenic individuals with and without 22q11DS. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.

    Science.gov (United States)

    Murray, Jeffrey C; Donahue, David J; Malik, Saleem I; Dzurik, Yvette B; Braly, Emily Z; Dougherty, Margaret J; Eaton, Katherine W; Biegel, Jaclyn A

    2011-05-01

    DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2. While rare cases of malignancy have been described, likely due to underlying immunodeficiency, central nervous system tumors have not yet been reported. We describe an adolescent boy with DGS/VCFS who developed a temporal lobe pleomorphic xanthoastrocytoma. High-resolution single nucleotide polymorphism array studies of the tumor confirmed a constitutional 22q11.21 deletion, and revealed acquired gains, losses and copy number neutral loss of heterozygosity of several chromosomal regions, including a homozygous deletion of the CDKN2A/B locus. The tumor also demonstrated a common V600E mutation in the BRAF oncogene. This is the first reported case of a patient with DiGeorge syndrome developing a CNS tumor of any histology and expands our knowledge about low-grade CNS tumor molecular genetics.

  2. K2-232 b: a transiting warm Saturn on an eccentric P = 11.2 d orbit around a V = 9.9 star

    Science.gov (United States)

    Brahm, R.; Espinoza, N.; Jordán, A.; Rojas, F.; Sarkis, P.; Díaz, M. R.; Rabus, M.; Drass, H.; Lachaume, R.; Soto, M. G.; Jenkins, J. S.; Jones, M. I.; Henning, Th; Pantoja, B.; Vučković, M.

    2018-06-01

    We report the discovery of K2-232 b using photometric data of the Kepler K2 satellite coupled with ground-based spectroscopic observations. K2-232 b has a mass of MP = 0.397 ± 0.037 MJ, a radius of RP = 1.00 ± 0.020 RJ, and a moderately low equilibrium temperature of Teq = 1030 ± 15 K due to its relatively large star-planet separation of a = 0.1036 au. K2-232 b orbits its bright (V = 9.9) late F-type host star in an eccentric orbit (e = 0.258 ± 0.025) every 11.2 d, and is one of only four well-characterized warm Jupiters having host stars brighter than V = 10. We estimate a heavy element content of 20 ± 7 M⊕ for K2-232 b, which is consistent with standard models of giant planet formation. The bright host star of K2-232 b makes this system a well-suited target for detailed follow-up observations that will aid in the study of the atmospheres and orbital evolution of giant planets at moderate separations from their host stars.

  3. A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: replication of genetic linkage on chromosome 5q11.2-q14.3.

    Science.gov (United States)

    Allen, Elsie M; Hsueh, Wen-Chi; Sabra, Mona M; Pollin, Toni I; Ladenson, Paul W; Silver, Kristi D; Mitchell, Braxton D; Shuldiner, Alan R

    2003-03-01

    Autoimmune thyroiditis (AITD) is a common disorder characterized by circulating antibodies to epitopes of thyroid tissue and hypothyroidism (Hashimoto's thyroiditis or AITD-hypothyroidism), although many subjects with AITD are euthyroid. Current evidence suggests that AITD is familial and polygenic. We studied AITD in a homogeneous founder Caucasian population, the Old Order Amish of Lancaster County, Pennsylvania. We found autoimmune thyroiditis, defined by the presence of circulating antimicrosomal antibodies, to be relatively common in the Amish, with a prevalence of 22.7%. The prevalence of AITD-hypothyroidism was 9.2%. We performed a genome-wide linkage analysis with 373 short tandem repeat markers in 445 subjects from 29 families. We observed suggestive evidence of linkage of AITD to a locus on chromosome 5q11.2-q14.3 (LOD, 2.30; P = 0.0006 at 94 cM; closest marker, D5S428), a region that was previously reported to be linked to AITD-hypothyroidism in a Japanese study. AITD-hypothyroidism showed a more modest linkage peak to the same region (LOD, 1.46; P = 0.005). Possible linkage (nominal P Amish.

  4. The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Hidding, E; Swaab, H; de Sonneville, L M J; van Engeland, H; Vorstman, J A S

    2016-11-01

    This paper examines how COMT 158 genotypes and plasma proline levels are associated with variable penetrance of social behavioural and social cognitive problems in 22q11.2 deletion syndrome (22q11DS). Severity of autistic spectrum symptoms of 45 participants with 22q11DS was assessed using the Autism Diagnostic Interview Revised. Face and facial emotion recognition was evaluated using standardized computer-based test-paradigms. Associations with COMT 158 genotypes and proline levels were examined. High proline levels and poor face recognition in individuals with the COMT MET allele, and poor facial emotion recognition, explained almost 50% of the variance in severity of autism symptomatology in individuals with 22q11DS. High proline levels and a decreased capacity to break down dopamine as a result of the COMT MET variant are both relevant in the expression of the social phenotype in patients. This epistatic interaction effect between the COMT 158 genotype and proline on the expression of social deficits in 22q11DS shows how factors other than the direct effects of the deletion itself can modulate the penetrance of associated cognitive and behavioural outcomes. These findings are not only relevant to our insight into 22q11DS, but also provide a model to better understand the phenomenon of variable penetrance in other pathogenic genetic variants. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. [Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome.

    Science.gov (United States)

    de Sonneville, Leo M J; Hidding, Elske; van Engeland, Herman; Vorstman, Jacob A S; Sijmens-Morcus, Monique E J; Swaab, Hanna

    2018-01-01

    Children with 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial-syndrome) are at risk for the developmental disorders, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this study, the relation between executive functioning (EF) and the severity of ADHD and ASD symptoms is examined, since EF is known to be important in relation to emotional and behavioral problems. The participants consist of 58 children (38 females) with a mean age of 13.5 years (SD 2.6). Standardized assessment was used to evaluate the severity of ASD and ADHD symptomatology. The major aspects of EF, i.e., cognitive flexibility, inhibition, sustained attention, distractibility, working memory and reaction speed, were evaluated. The profile of EF in 22q11DS was found to be characterized by weaker performance compared to the norms on all subdomains of EF. Poor cognitive flexibility and inhibition, as well as high distractibility, were found to be related to more severe ASD symptoms, while poor quality of sustained attention and high distractibility were found to be related to more severe ADHD symptoms. It is concluded that children with 22q11DS experience impairments in EF, and that the degree of impairment on specific EF subdomains is related to the severity of ASD and/or ADHD symptomatology. These results may help in defining the mediating role of neurocognitive dysfunctions in the development of social and behavioral problems in 22q11DS.

  6. Dopamine in high-risk populations: A comparison of subjects with 22q11.2 deletion syndrome and subjects at ultra high-risk for psychosis.

    Science.gov (United States)

    Vingerhoets, Claudia; Bloemen, Oswald J N; Boot, Erik; Bakker, Geor; de Koning, Mariken B; da Silva Alves, Fabiana; Booij, Jan; van Amelsvoort, Thérèse A M J

    2018-02-28

    Striatal dopamine (DA) dysfunction has been consistently reported in psychotic disorders. Differences and similarities in the pathogenesis between populations at clinical and genetic risk for developing psychosis are yet to be established. Here we explored markers of dopamine (DA) function in subjects meeting clinically ultra-high risk criteria for psychosis (UHR) and in subjects with 22q11.2 deletion syndrome (22q11DS), a genetic condition associated with significant risk for developing psychotic disorders. Single Photon Emission Computed Tomography (SPECT) with 123 I-labelled iodobenzamide ([ 123 I]IBZM) was used to measure striatal DA D 2/3 receptor binding potential (D 2 R BP ND ). Also, peripheral DAergic markers were assessed in serum and urine (plasma prolactin (pPRL), plasma homovanillic acid (pHVA) and urine DA(uDA)). No significant difference in striatal D 2 R BP ND was found between UHR and 22q11DS subjects. Compared to UHR subjects, pPRL and pHVA were lower and uDA levels were higher in the 22q11DS subjects. However, after correcting for age and gender, only pPRL as significantly lower in the 22q11DS patients. These results may suggest that there are differences in DAergic markers between subjects with UHR and with 22q11DS that may reflect differences in the pathways to psychosis. However, bigger samples are needed to replicate these findings. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium.

    Science.gov (United States)

    Devaraju, P; Yu, J; Eddins, D; Mellado-Lagarde, M M; Earls, L R; Westmoreland, J J; Quarato, G; Green, D R; Zakharenko, S S

    2017-09-01

    Hemizygous deletion of a 1.5- to 3-megabase region on chromosome 22 causes 22q11.2 deletion syndrome (22q11DS), which constitutes one of the strongest genetic risks for schizophrenia. Mouse models of 22q11DS have abnormal short-term synaptic plasticity that contributes to working-memory deficiencies similar to those in schizophrenia. We screened mutant mice carrying hemizygous deletions of 22q11DS genes and identified haploinsufficiency of Mrpl40 (mitochondrial large ribosomal subunit protein 40) as a contributor to abnormal short-term potentiation (STP), a major form of short-term synaptic plasticity. Two-photon imaging of the genetically encoded fluorescent calcium indicator GCaMP6, expressed in presynaptic cytosol or mitochondria, showed that Mrpl40 haploinsufficiency deregulates STP via impaired calcium extrusion from the mitochondrial matrix through the mitochondrial permeability transition pore. This led to abnormally high cytosolic calcium transients in presynaptic terminals and deficient working memory but did not affect long-term spatial memory. Thus, we propose that mitochondrial calcium deregulation is a novel pathogenic mechanism of cognitive deficiencies in schizophrenia.

  8. PERBEDAAN TINGKAT STRES LUTUNG JAWA (Trachypitecus auratus PADA KANDANG PERAWATAN DAN KANDANG KARANTINA DI JAVAN LANGUR CENTER (JLC DITINJAU DARI KADAR KORTISOL DAN RASIO NEUTROFIL PERLIMFOSIT (N/L

    Directory of Open Access Journals (Sweden)

    Eko Dini Danafi

    2017-11-01

    Full Text Available Lutung Jawa (Trachypithecus auratus adalah satwa endemik Jawa dan Bali. Populasi lutung Jawa semakin mengalami penurunan dan masuk kategori satwa yang dilindungi. Penurunan populasi lutung jawa dapat disebabkan oleh berbagai macam penyakit yang diperparah dengan tingginya tingkat stres pada satwa. Javan Langur Center yang berlokasi di Cangar, Batu merupakan salah satu tempat untuk merehabilitasi lutung Jawa sebelum dilepasliarkan ke alam. Javan Langur Center terdiri dari tiga kandang yaitu kandang perawatan, kandang karantina dan kandang sosialisasi. Respon stress pada primata dapat dievaluasi dengan menggunakan indikator pengukuran hormon kortisol dan rasio neutrofil per limfosit. Penelitian bertujuan untuk mengetahui perbedaan kadar kortisol dan rasio neutrofil per limfosit sebagai indikator stres pada lutung Jawa di kandang perawatan dengan kandang karantina. Lutung Jawa dengan umur 2-7,5 tahun dan berjenis kelamin jantan dan betina. Pengukuran kadar kortisol dengan metode ELISA Indirect gelombang pada 450 nm dan diferensial leukosit diukur dengan hematology analizer. Hasil penelitian menunjukkan bahwa sampel pada kandang perawatan memiliki rata-rata kadar kortisol yang lebih tinggi (116,1 ng/mL daripada kandang karantina (87,5 ng/mL, dan pengukuran rasio N/L pada kandang perawatan lebih tinggi (11,3 daripada kandang karantina (1,2.

  9. Uranium: a foreign resource N.L

    International Nuclear Information System (INIS)

    Venturini, V.G.

    1983-01-01

    The issue of the mining and export of Australian uranium is examined. Particular reference is made to the existence of a uranium cartel between 1970 and 1975 and the associated U.S. Westinghouse Antitrust suite. Problems associated with nuclear power and benefits to Australia associated with the mining of uranium are questioned. Changing government policy on the issue is discussed. Recommendations of the Ranger uranium environmental enquiry are noted

  10. DATA.KNMI.NL - Status & Future Challenges

    Science.gov (United States)

    van de Vegte, John; Som de Cerff, Wim; Verhoef, Hans; Plieger, Maarten; de Vreede, Ernst; van der Neut, Ian; Bos, Jeroen; Ha, Siu-Siu; Sluiter, Raymond; Willem Noteboom, Jan; Klein Baltink, Henk; Reijmerink, Mieke

    2015-04-01

    The Royal Netherlands Meteorological Institute (KNMI) has over 150 years of knowledge and gathered information related to weather, Climate and Seismology. A huge part of this information is from numerical models, insitu sensor networks and remote sensing satellites. This digital collection is becoming more and more available in the newly developed KNMI Data Centre, that is now 2 years operational. The KNMI Data Centre project has a user driven development approach where SCRUM is chosen to get maximum user involvement in a relative short timeframe. The system is build on open standards and proven opensource technology (which includes in-house developed software like ADAGUC WMS and Portal). The presentation will focus on the aspects of developing the initial KNMI Data Centre, the operational use of the last 2 years, and how a major release for the coming year will be realized. The new release which will focus on better user experience and extending the technical data interfaces to the data centre. Keywords: Agile, Usage Statistics, Open Data, Inspire, DOI, WMS, WCS, OPeNDAP

  11. Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion.

    Science.gov (United States)

    Zahed, Laila; Sismani, Carolina; Ioannides, M; Saleh, Monzer; Koumbaris, G; Kenj, Mazen; Abdallah, Amal; Ayyache, Maya; Patsalis, Philippos

    2008-04-01

    We report on a 13-year-old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y chromosome in 20% of the cells was also confirmed in skin fibroblast cultures. FISH analyses using Y centromere, SRY, subtelomere XpYp/XqYq, Y and 4 painting probes, confirmed the cytogenetic findings. High-resolution STS analyses using 40 markers covering the Y chromosome did not identify any deletion on the Y. However, de novo absence of the 4p subtelomeric region was noted by FISH, although this deletion was not revealed by Array-CGH at 1 Mb resolution, the last array clone being 0.35 or 1 Mb distal to the 4p FISH probe. The female phenotype of this patient must be due to the loss of the derivative Y chromosomes in some of her cells, especially the gonads, while the 4p subtelomeric deletion does not seem to contribute to her phenotype. Copyright 2008 Wiley-Liss, Inc.

  12. Schizophrenia patients and 22q11.2 deletion syndrome adolescents at risk express the same deviant patterns of resting state EEG microstates: A candidate endophenotype of schizophrenia

    Directory of Open Access Journals (Sweden)

    Miralena I. Tomescu

    2015-09-01

    Full Text Available Schizophrenia is a complex psychiatric disorder and many of the factors contributing to its pathogenesis are poorly understood. In addition, identifying reliable neurophysiological markers would improve diagnosis and early identification of this disease. The 22q11.2 deletion syndrome (22q11DS is one major risk factor for schizophrenia. Here, we show further evidence that deviant temporal dynamics of EEG microstates are a potential neurophysiological marker by showing that the resting state patterns of 22q11DS are similar to those found in schizophrenia patients. The EEG microstates are recurrent topographic distributions of the ongoing scalp potential fields with temporal stability of around 80 ms that are mapping the fast reconfiguration of resting state networks. Five minutes of high-density EEG recordings was analysed from 27 adult chronic schizophrenia patients, 27 adult controls, 30 adolescents with 22q11DS, and 28 adolescent controls. In both patient groups we found increased class C, but decreased class D presence and high transition probabilities towards the class C microstates. Moreover, these aberrant temporal dynamics in the two patient groups were also expressed by perturbations of the long-range dependency of the EEG microstates. These findings point to a deficient function of the salience and attention resting state networks in schizophrenia and 22q11DS as class C and class D microstates were previously associated with these networks, respectively. These findings elucidate similarities between individuals at risk and schizophrenia patients and support the notion that abnormal temporal patterns of EEG microstates might constitute a marker for developing schizophrenia.

  13. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

    Science.gov (United States)

    Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L.; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M.; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J.; Morrison, Karen E.; Farmer, Anne E.; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J.; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M.; Leigh, Nigel P.; Glass, Jonathan D.; Overste, Daniel; Diekstra, Frank P.; Veldink, Jan H.; van Es, Michael A.; Shaw, Christopher E.; Weale, Michael E.; Lewis, Cathryn M.; Williams, Julie; Brown, Robert H.; Landers, John E.; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P.; D'Alfonso, Sandra; van den Berg, Leonard H.; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo; Brescia Morra, Vincenzo; Filla, Alessandro; Massimo, Filosto; Marsili, Angela; Viviana, Pensato; Puorro, Giorgia; La Bella, Vincenzo; Logroscino, Giancarlo; Monsurrò, Maria Rosaria; Quattrone, Aldo; Simone, Isabella Laura; Ahmeti, Kreshnik B.; Ajroud-Driss, Senda; Armstrong, Jennifer; Birve, Anne; Blauw, Hylke M.; Bruijn, Lucie; Chen, Wenjie; Comeau, Mary C.; Cronin, Simon; Soraya, Gkazi Athina; Grab, Josh D.; Groen, Ewout J.; Haines, Jonathan L.; Heller, Scott; Huang, Jie; Hung, Wu-Yen; Jaworski, James M.; Khan, Humaira; Langefeld, Carl D.; Marion, Miranda C.; McLaughlin, Russell L.; Miller, Jack W.; Mora, Gabriele; Pericak-Vance, Margaret A.; Rampersaud, Evadnie; Siddique, Nailah; Siddique, Teepu; Smith, Bradley N.; Sufit, Robert; Topp, Simon; Vance, Caroline; van Vught, Paul; Yang, Yi; Zheng, J.G.

    2014-01-01

    Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (∼90%) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P = 1.11 × 10−8; OR 0.82) that was validated when combined with genotype data from a replication cohort (P = 8.62 × 10−9; OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P = 7.69 × 10−9; OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as ∼12% using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci. PMID:24256812

  14. A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.

    Directory of Open Access Journals (Sweden)

    Young Jae Woo

    Full Text Available Copy number variants (CNVs at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2 are associated with language-related difficulties and increased risk for developmental disorders in which language is compromised. Towards underlying mechanisms, we investigated relationships between single nucleotide polymorphisms (SNPs across the region and quantitative measures of human brain structure obtained by magnetic resonance imaging of healthy subjects. We report an association between rs4778298, a common variant at CYFIP1, and inter-individual variation in surface area across the left supramarginal gyrus (lh.SMG, a cortical structure implicated in speech and language in independent discovery (n = 100 and validation cohorts (n = 2621. In silico analyses determined that this same variant, and others nearby, is also associated with differences in levels of CYFIP1 mRNA in human brain. One of these nearby polymorphisms is predicted to disrupt a consensus binding site for FOXP2, a transcription factor implicated in speech and language. Consistent with a model where FOXP2 regulates CYFIP1 levels and in turn influences lh.SMG surface area, analysis of publically available expression data identified a relationship between expression of FOXP2 and CYFIP1 mRNA in human brain. We propose that altered CYFIP1 dosage, through aberrant patterning of the lh.SMG, may contribute to language-related difficulties associated with BP1-2 CNVs. More generally, this approach may be useful in clarifying the contribution of individual genes at CNV risk loci.

  15. The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study.

    Science.gov (United States)

    Weinberger, R; Weisman, O; Guri, Y; Harel, T; Weizman, A; Gothelf, D

    2018-02-01

    The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories. Forty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12-35years, were assessed at two time points (15.2±2.1months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB). 22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS. Our results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  16. Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.

    Science.gov (United States)

    Yi, James J; Weinberger, Ronnie; Moore, Tyler M; Calkins, Monica E; Guri, Yael; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Raquel E; Gothelf, Doron; Gur, Ruben C

    2016-07-01

    Increasingly, the effects of copy number variation (CNV) in the genome on brain function and behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders. Such studies require large samples and we characterized the neurocognitive profile of two cohorts of individuals with 22q11.2 deletion syndrome (22q11DS), the most common CNV associated with schizophrenia, in an effort to harmonize phenotyping in multi-site global collaborations. The Penn Computerized Neurocognitive Battery (PCNB) was administered to individuals with 22q11DS in Philadelphia (PHL; n=155, aged 12-40) and Tel Aviv (TLV; n=59, aged 12-36). We examined effect sizes of performance differences between the cohorts and confirmed the factor structure of PCNB performance efficiency in the combined sample based on data from a large comparison community sample. The cohorts performed comparably with notable deficits in executive function, episodic memory and social cognition domains that were previously associated with abnormal neuroimaging findings in 22q11DS. In mixed model analysis, while there was a main effect for site for accuracy (number of correct response) and speed (time to correct response) independently, there were no main site effects for standardized efficiency (average of accuracy and speed). The fit of a structural model was excellent indicating that PCNB tests were related to the targeted cognitive domains. Thus, our results provide preliminary support for the use of the PCNB as an efficient tool for neurocognitive assessment in international 22q11DS collaborations. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. A constitutional translocation t(1;17(p36.2;q11.2 in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.

    Directory of Open Access Journals (Sweden)

    Karl Vandepoele

    Full Text Available The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17(p36.2;q11.2 may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types.

  18. "You don't know until you get there": The positive and negative "lived" experience of parenting an adult child with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Goodwin, Jane; McCormack, Lynne; Campbell, Linda E

    2017-01-01

    22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomenological study sought the "lived" interpretations of parents supporting an adult child with 22q11DS, a poorly researched area. Interpretative phenomenological analysis informed a detailed and open exploration of parenting a child through to adult life with 22q11DS. Using in-depth semistructured interviews, 8 parents (2 male, 6 female) of adult children with 22q11DS were individually interviewed; providing the data set for transcription and thematic analysis. Losing "I" Finding "self," overarched 6 subordinate themes that emerged from participants' articulated descriptions of psychological distress and psychological growth. Distress in parenting a child with 22q11DS was experienced through stigma, loss, grief, and guilt. Progressively, stigma undermined independence, friendships, and instinctual judgement. Ill-informed hierarchical structures experienced as layers of obstruction and lack of awareness of the syndrome triggered angry advocacy for their child. Diagnosis brought opposing relief and grief. In time, they came to value their unique "accomplishments," collected on their journey with 22q11DS, and in turn, consciously valued authentic "self" expressed through empathy, humility, gratitude, and pride. Parental distress through societal, educational, and health care invalidation persisted for decades for all participants. Conversely, distress facilitated psychological growth for redefining "self" and role as parents over time. Building on this phenomenological cameo, future research can educate against the plight of 22q11DS families. It can enlighten health care professionals in buffering against associated stigma, blame, and self-doubt, and in fostering psychological well-being. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  19. Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.

    Directory of Open Access Journals (Sweden)

    Maria Jalbrzikowski

    Full Text Available 22q11.2 Deletion Syndrome (22q11DS represents one of the greatest known genetic risk factors for the development of psychotic illness, and is also associated with high rates of autistic spectrum disorders (ASD in childhood. We performed integrated genomic analyses of 22q11DS to identify genes and pathways related to specific phenotypes.We used a high-resolution aCGH array to precisely characterize deletion breakpoints. Using peripheral blood, we examined differential expression (DE and networks of co-expressed genes related to phenotypic variation within 22q11DS patients. Whole-genome transcriptional profiling was performed using Illumina Human HT-12 microarrays. Data mining techniques were used to validate our results against independent samples of both peripheral blood and brain tissue from idiopathic psychosis and ASD cases.Eighty-five percent of 22q11DS individuals (N = 39 carried the typical 3 Mb deletion, with significant variability in deletion characteristics in the remainder of the sample (N = 7. DE analysis and weighted gene co-expression network analysis (WGCNA identified expression changes related to psychotic symptoms in patients, including a module of co-expressed genes which was associated with psychosis in 22q11DS and involved in pathways associated with transcriptional regulation. This module was enriched for brain-expressed genes, was not related to antipsychotic medication use, and significantly overlapped with transcriptional changes in idiopathic schizophrenia. In 22q11DS-ASD, both DE and WGCNA analyses implicated dysregulation of immune response pathways. The ASD-associated module showed significant overlap with genes previously associated with idiopathic ASD.These findings further support the use of peripheral tissue in the study of major mutational models of diseases affecting the brain, and point towards specific pathways dysregulated in 22q11DS carriers with psychosis and ASD.

  20. Molecular dynamics studies of InGaN growth on nonpolar (11 2 \\xAF0 ) GaN surfaces

    Science.gov (United States)

    Chu, K.; Gruber, J.; Zhou, X. W.; Jones, R. E.; Lee, S. R.; Tucker, G. J.

    2018-01-01

    We have performed direct molecular dynamics (MD) simulations of heteroepitaxial vapor deposition of I nxG a1 -xN films on nonpolar (11 2 ¯0 ) wurtzite-GaN surfaces to investigate strain relaxation by misfit-dislocation formation. The simulated growth is conducted on an atypically large scale by sequentially injecting nearly a million individual vapor-phase atoms towards a fixed GaN substrate. We apply time-and-position-dependent boundary constraints to affect the appropriate environments for the vapor phase, the near-surface solid phase, and the bulklike regions of the growing layer. The simulations employ a newly optimized Stillinger-Weber In-Ga-N system interatomic potential wherein multiple binary and ternary structures are included in the underlying density-functional theory and experimental training sets to improve the treatment of the In-Ga-N related interactions. To examine the effect of growth conditions, we study a matrix of 63 different MD-growth simulations spanning seven I nxG a1 -xN -alloy compositions ranging from x =0.0 to x =0.8 and nine growth temperatures above half the simulated melt temperature. We found a composition dependent temperature range where all kinetically trapped defects were eliminated, leaving only quasiequilibrium misfit and threading dislocations present in the simulated films. Based on the MD results obtained in this temperature range, we observe the formation of interfacial misfit and threading dislocation arrays with morphologies strikingly close to those seen in experiments. In addition, we compare the MD-observed thickness-dependent onset of misfit-dislocation formation to continuum-elasticity-theory models of the critical thickness and find reasonably good agreement. Finally, we use the three-dimensional atomistic details uniquely available in the MD-growth histories to directly observe the nucleation of dislocations at surface pits in the evolving free surface.

  1. Cortical Dysconnectivity Measured by Structural Covariance Is Associated With the Presence of Psychotic Symptoms in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Sandini, Corrado; Scariati, Elisa; Padula, Maria Carmela; Schneider, Maude; Schaer, Marie; Van De Ville, Dimitri; Eliez, Stephan

    2018-05-01

    22q11.2 deletion syndrome (22q11DS) is the third-largest known genetic risk factor for the development of psychosis. Dysconnectivity has consistently been implicated in the physiopathology of psychosis. Structural covariance of cortical morphology is a method of exploring connectivity among brain regions that to date has not been employed in 22q11DS. In the present study we employed structural covariance of cortical thickness to explore connectivity alterations in a group of 108 patients with 22q11DS compared with 96 control subjects. We subsequently divided patients into two subgroups of 31 subjects each according to the presence of attenuated psychotic symptoms. FreeSurfer software was used to obtain the mean cortical thickness in 148 brain regions from T1-weighted 3T images. For each population we reconstructed a brain graph using Pearson correlation between the average thickness of each couple of brain regions, which we characterized in terms of mean correlation strength and in terms of network architecture using graph theory. Patients with 22q11DS presented increased mean correlation strength, but there was no difference in global architecture compared with control subjects. However, symptomatic patients presented increased mean correlation strength coupled with increased segregation and decreased integration compared with both control subjects and nonsymptomatic patients. They also presented increased centrality for a cluster of anterior cingulate and dorsomedial prefrontal regions. These results confirm the importance of cortical dysconnectivity in the physiopathology of psychosis. Moreover they support the significance of aberrant anterior cingulate connectivity. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  2. Relationship between reaction time, fine motor control, and visual-spatial perception on vigilance and visual-motor tasks in 22q11.2 Deletion Syndrome.

    LENUS (Irish Health Repository)

    Howley, Sarah A

    2012-10-15

    22q11.2 Deletion Syndrome (22q11DS) is a common microdeletion disorder associated with mild to moderate intellectual disability and specific neurocognitive deficits, particularly in visual-motor and attentional abilities. Currently there is evidence that the visual-motor profile of 22q11DS is not entirely mediated by intellectual disability and that these individuals have specific deficits in visual-motor integration. However, the extent to which attentional deficits, such as vigilance, influence impairments on visual motor tasks in 22q11DS is unclear. This study examines visual-motor abilities and reaction time using a range of standardised tests in 35 children with 22q11DS, 26 age-matched typically developing (TD) sibling controls and 17 low-IQ community controls. Statistically significant deficits were observed in the 22q11DS group compared to both low-IQ and TD control groups on a timed fine motor control and accuracy task. The 22q11DS group performed significantly better than the low-IQ control group on an untimed drawing task and were equivalent to the TD control group on point accuracy and simple reaction time tests. Results suggest that visual motor deficits in 22q11DS are primarily attributable to deficits in psychomotor speed which becomes apparent when tasks are timed versus untimed. Moreover, the integration of visual and motor information may be intact and, indeed, represent a relative strength in 22q11DS when there are no time constraints imposed. While this may have significant implications for cognitive remediation strategies for children with 22q11DS, the relationship between reaction time, visual reasoning, cognitive complexity, fine motor speed and accuracy, and graphomotor ability on visual-motor tasks is still unclear.

  3. 'At the end of the day, it is more important that he stays happy': an interpretative phenomenological analysis of people who have a sibling with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Goodwin, J; Alam, S; Campbell, L E

    2017-09-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in-depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11.2DS were individually interviewed, providing the data set for transcription and thematic analysis. The theme 'They are the priority' overarched two subordinate themes that emerged from participants' descriptions of the struggle with acceptance and finding positive meaning. Participants oscillated between conflicting feelings about their sibling with 22q11.2DS always taking centre stage. For example, they felt anger, guilt and resentment; yet, they also embraced patience, empathy and gratitude. This phenomenological study provides a foundation for future research relating to 22q11.2DS and fostering family wellbeing, particularly around acceptance and psychological growth. The siblings in this study actively withdrew from their family to allow prioritisation of their affected sibling. However, this does not mean that their needs should be overlooked. There are easily accessible resources to support siblings of individuals with disabilities, and it is important for health professionals and parents to consider these options. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  4. In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review.

    Directory of Open Access Journals (Sweden)

    Nicole E Spruijt

    Full Text Available BACKGROUND: Patients with the 22q11.2 deletion syndrome (22qDS and velopharyngeal dysfunction (VPD tend to have residual VPD following surgery. This systematic review seeks to determine whether a particular surgical procedure results in superior speech outcome or less morbidity. METHODOLOGY/ PRINCIPAL FINDINGS: A combined computerized and hand-search yielded 70 studies, of which 27 were deemed relevant for this review, reporting on a total of 525 patients with 22qDS and VPD undergoing surgery for VPD. All studies were levels 2c or 4 evidence. The methodological quality of these studies was assessed using criteria based on the Cochrane Collaboration's tool for assessing risk of bias. Heterogeneous groups of patients were reported on in the studies. The surgical procedure was often tailored to findings on preoperative imaging. Overall, 50% of patients attained normal resonance, 48% attained normal nasal emissions scores, and 83% had understandable speech postoperatively. However, 5% became hyponasal, 1% had obstructive sleep apnea (OSA, and 17% required further surgery. There were no significant differences in speech outcome between patients who underwent a fat injection, Furlow or intravelar veloplasty, pharyngeal flap pharyngoplasty, Honig pharyngoplasty, or sphincter pharyngoplasty or Hynes procedures. There was a trend that a lower percentage of patients attained normal resonance after a fat injection or palatoplasty than after the more obstructive pharyngoplasties (11-18% versus 44-62%, p = 0.08. Only patients who underwent pharyngeal flaps or sphincter pharyngoplasties incurred OSA, yet this was not statistically significantly more often than after other procedures (p = 0.25. More patients who underwent a palatoplasty needed further surgery than those who underwent a pharyngoplasty (50% versus 7-13%, p = 0.03. CONCLUSIONS/ SIGNIFICANCE: In the heterogeneous group of patients with 22qDS and VPD, a grade C recommendation can be

  5. Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Jerzy Wegiel

    Full Text Available It has been shown that amyloid ß (Aβ, a product of proteolytic cleavage of the amyloid β precursor protein (APP, accumulates in neuronal cytoplasm in non-affected individuals in a cell type-specific amount.In the present study, we found that the percentage of amyloid-positive neurons increases in subjects diagnosed with idiopathic autism and subjects diagnosed with duplication 15q11.2-q13 (dup15 and autism spectrum disorder (ASD. In spite of interindividual differences within each examined group, levels of intraneuronal Aβ load were significantly greater in the dup(15 autism group than in either the control or the idiopathic autism group in 11 of 12 examined regions (p<0.0001 for all comparisons; Kruskall-Wallis test. In eight regions, intraneuronal Aβ load differed significantly between idiopathic autism and control groups (p<0.0001. The intraneuronal Aβ was mainly N-terminally truncated. Increased intraneuronal accumulation of Aβ(17-40/42 in children and adults suggests a life-long enhancement of APP processing with α-secretase in autistic subjects. Aβ accumulation in neuronal endosomes, autophagic vacuoles, Lamp1-positive lysosomes and lipofuscin, as revealed by confocal microscopy, indicates that products of enhanced α-secretase processing accumulate in organelles involved in proteolysis and storage of metabolic remnants. Diffuse plaques containing Aβ(1-40/42 detected in three subjects with ASD, 39 to 52 years of age, suggest that there is an age-associated risk of alterations of APP processing with an intraneuronal accumulation of a short form of Aβ and an extracellular deposition of full-length Aβ in nonfibrillar plaques.The higher prevalence of excessive Aβ accumulation in neurons in individuals with early onset of intractable seizures, and with a high risk of sudden unexpected death in epilepsy in autistic subjects with dup(15 compared to subjects with idiopathic ASD, supports the concept of mechanistic and functional links

  6. Level structures of 119Xe, 121Xe excited in (12C,3nγ) reactions and analysis of the hsub(11/2) bands in the IBF model

    International Nuclear Information System (INIS)

    Barci, V.; Gizon, J.; Gizon, A.

    1982-02-01

    Levels in 119 Xe, 121 Xe excited by the reactions 110 Cd, 112 Cd( 12 C,3nγ) 119 Xe, 121 Xe have been studied by in-beam γ-ray spectroscopic techniques. Several bands have been observed: hsub(11/2) and gsub(7/2) in 119 Xe, 121 Xe, a decoupled one in 121 Xe. A new level structure in 119 Xe found for the first time is assigned as the gsub(9/2) band generated by one hole in the gsub(9/2) neutron shell. The connections between these bands have been fixed in both nuclei. A detailed analysis is made for the hsub(11/2) level structure. An interpretation is given in terms of the interacting boson-fermion model where hsub(11/2), fsub(7/2) and hsub(9/2) fermion configurations are included

  7. Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles

    DEFF Research Database (Denmark)

    Lima, K; Abrahamsen, Gitte Meldgaard; Foelling, I

    2010-01-01

    Thymic hypoplasia is a frequent feature of the 22q11.2 deletion syndrome, but we know little about patients' age-related thymic output and long-term consequences for their immune system. We measured the expression of T cell receptor rearrangement excision circles (TREC) and used flow cytometry...

  8. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype

    DEFF Research Database (Denmark)

    Figueroa, Jonine D; Garcia-Closas, Montserrat; Humphreys, Manjeet

    2011-01-01

    A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer As...

  9. Metropolitan Spokane Region Water Resources Study. Appendix G. Planning Criteria

    Science.gov (United States)

    1976-01-01

    head or more of dairy cattle c. 2500 swine over 55 pounds d. 10,000 head of sheep e. 55,000 turkeys f. 100,000 laying hens or broilers g. 30,000 laying...hens or broilers with liquid manure handling systems h. 5000 ducks i. combinations of animals per schedule 317-20 IM 2. Fish production facilities. a...69). *70.93 Litter Control Model Act, 1971. *70.94 Clean Air Act. (AMD-73). *70.95 Solid Waste Management, 1969. (AMD-71). 78.52 Oil-Gas Conservation

  10. Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

    DEFF Research Database (Denmark)

    Forestier, Erik; Gauffin, Fredrika; Andersen, Mette K

    2008-01-01

    Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical and cytogene......Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical...... a mediastinal mass at diagnosis. Risk group stratification was nonstandard risk in 79%. The event-free survival and overall survival at 5 years for the 24 Nordic cases was 0.62 and 0.82, respectively. Thus, although relapses are quite common, postrelapse treatment of many patients is successful....

  11. The formation of an aberrant PAX5 transcript in a patient with mixed phenotype acute leukemia harboring der(9t(7;9(q11.2;p13

    Directory of Open Access Journals (Sweden)

    Jun Amaki

    2016-01-01

    Full Text Available We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL. A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9t(7;9(q11.2;p13. We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3′ rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9t(7;9(q11.2;p13 can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.

  12. Cardiovascular risk prediction in HIV-infected patients: comparing the Framingham, atherosclerotic cardiovascular disease risk score (ASCVD), Systematic Coronary Risk Evaluation for the Netherlands (SCORE-NL) and Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) risk prediction models.

    Science.gov (United States)

    Krikke, M; Hoogeveen, R C; Hoepelman, A I M; Visseren, F L J; Arends, J E

    2016-04-01

    The aim of the study was to compare the predictions of five popular cardiovascular disease (CVD) risk prediction models, namely the Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) model, the Framingham Heart Study (FHS) coronary heart disease (FHS-CHD) and general CVD (FHS-CVD) models, the American Heart Association (AHA) atherosclerotic cardiovascular disease risk score (ASCVD) model and the Systematic Coronary Risk Evaluation for the Netherlands (SCORE-NL) model. A cross-sectional design was used to compare the cumulative CVD risk predictions of the models. Furthermore, the predictions of the general CVD models were compared with those of the HIV-specific D:A:D model using three categories ( 20%) to categorize the risk and to determine the degree to which patients were categorized similarly or in a higher/lower category. A total of 997 HIV-infected patients were included in the study: 81% were male and they had a median age of 46 [interquartile range (IQR) 40-52] years, a known duration of HIV infection of 6.8 (IQR 3.7-10.9) years, and a median time on ART of 6.4 (IQR 3.0-11.5) years. The D:A:D, ASCVD and SCORE-NL models gave a lower cumulative CVD risk, compared with that of the FHS-CVD and FHS-CHD models. Comparing the general CVD models with the D:A:D model, the FHS-CVD and FHS-CHD models only classified 65% and 79% of patients, respectively, in the same category as did the D:A:D model. However, for the ASCVD and SCORE-NL models, this percentage was 89% and 87%, respectively. Furthermore, FHS-CVD and FHS-CHD attributed a higher CVD risk to 33% and 16% of patients, respectively, while this percentage was D:A:D, ASCVD and SCORE-NL models. This could have consequences regarding overtreatment, drug-related adverse events and drug-drug interactions. © 2015 British HIV Association.

  13. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes

    Directory of Open Access Journals (Sweden)

    Alicia Blaker-Lee

    2012-11-01

    Deletion or duplication of one copy of the human 16p11.2 interval is tightly associated with impaired brain function, including autism spectrum disorders (ASDs, intellectual disability disorder (IDD and other phenotypes, indicating the importance of gene dosage in this copy number variant region (CNV. The core of this CNV includes 25 genes; however, the number of genes that contribute to these phenotypes is not known. Furthermore, genes whose functional levels change with deletion or duplication (termed ‘dosage sensors’, which can associate the CNV with pathologies, have not been identified in this region. Using the zebrafish as a tool, a set of 16p11.2 homologs was identified, primarily on chromosomes 3 and 12. Use of 11 phenotypic assays, spanning the first 5 days of development, demonstrated that this set of genes is highly active, such that 21 out of the 22 homologs tested showed loss-of-function phenotypes. Most genes in this region were required for nervous system development – impacting brain morphology, eye development, axonal density or organization, and motor response. In general, human genes were able to substitute for the fish homolog, demonstrating orthology and suggesting conserved molecular pathways. In a screen for 16p11.2 genes whose function is sensitive to hemizygosity, the aldolase a (aldoaa and kinesin family member 22 (kif22 genes were identified as giving clear phenotypes when RNA levels were reduced by ∼50%, suggesting that these genes are deletion dosage sensors. This study leads to two major findings. The first is that the 16p11.2 region comprises a highly active set of genes, which could present a large genetic target and might explain why multiple brain function, and other, phenotypes are associated with this interval. The second major finding is that there are (at least two genes with deletion dosage sensor properties among the 16p11.2 set, and these could link this CNV to brain disorders such as ASD and IDD.

  14. Habits of Reading and Library Use of the Ethnic Minority Children in Multi-cultural Societies Çok Kültürlü Toplumlarda Etnik Azınlık Çocuklarının Okuma ve Kütüphane Kullanma Alışkanlıkları

    Directory of Open Access Journals (Sweden)

    Bülent Yılmaz

    2000-12-01

    Full Text Available In this study, it is examined that habits of reading and library use of the ethnic minority children live in multi-cultural societies in theoretical base. Habits of reading and library use are tools which have important functions incultural adaptation of ethnic minority children. These habits can help the cultural adaptation of the children, especially, by contributing to their language developments and educational achievements. Bu çalışmada, çok kültürlü toplumlarda yaşayan etnik azınlık çocuklarının okuma ve kütüphane kullanma alışkanlıkları kuramsal olarak ele alınmıştır. Okuma ve kütüphane kullanma alışkanlıkları etnik azınlık çocukları için kültürel uyumda önemli işlevlere sahip araçlardır. Bu alışkalıklar, çocuklarda, özellikle, dil gelişimi ve eğitimde başarıya katkıda bulunarak kültürel uyuma yardımcı olurlar.

  15. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    from grasping the entire message from the original interview. Furthermore ... over translation mode in television networks across the country are proposed based on these results. Key Words: .... impact of the loss of meaning and the impact it.

  16. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    changement climatique sur les ressources en eau au Cameroun sur la base des données historiques, de ... L'étude conclut ..... Garoua (sudano sahelien zone), the annual rainfall ..... final : programme d'approches intégrée et globales.

  17. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    metamorphic, and volcanic aquifers in the southern part of Ndian Division indicated the ... bromide de 77,28 et 0,08 mg/l respectivement. ...... remote sensing (radar) studies, and further ground .... in the Cross River State, southern Nigeria.

  18. Adefarakan et al (11) 2.cdr

    African Journals Online (AJOL)

    Timothy Ademakinwa

    The study reports isolation and identification of Escherichia coli from the ... Keywords: Escherichia coli, ram, goat, antibiotic, resistant gene, virulence factors .... 30 s, elongation at 72 C for 30 s and final extension o ..... Staphylococcus aureus.

  19. 31 CFR 11.2 - Policy.

    Science.gov (United States)

    2010-07-01

    ... vending facilities, including vending machines, on property controlled by the Department of the Treasury... States. Treasury bureaus shall ensure that the collection and distribution of vending machine income from vending machines on Treasury-controlled property shall be in compliance with the regulations set forth in...

  20. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    An assessment of records of past climatic data (rainfall and temperatures) recorded within three zones ( Mondoni,. Tiko and Benoe ) of the Project from ... and in lowland humid conditions with continuous total annual rainfall of 2000 to 2500mm ..... According to Bridge et al., (1998) and Ploetz. (2004), burrowing nematodes ...

  1. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    Department of English language teaching, Jahrom branch, Islamic Azad ... effectiveness of mobile phone for teaching, 94 students were in the study. ... method revealed that the SBT group performed better than the control group. ... The importance of knowing a foreign language .... this is very popular in vocabulary tests.

  2. 11.2 Layout ppp1.pmd

    African Journals Online (AJOL)

    Nubidga

    A total of 41.4% (156/377) of the pregnant women were infected with malaria parasitaemia. Due to repeated infections ... it is an important factor associated with an increased risk of ..... is one of the complications of malaria was mild. Most of the ...

  3. A randomized, multicentre study of directed daylight exposure times of 11/2 vs. 21/2 h in daylight-mediated photodynamic therapy with methyl aminolaevulinate in patients with multiple thin actinic keratoses of the face and scalp

    DEFF Research Database (Denmark)

    Wiegell, S.R.; Fabricius, S.; Philipsen, P.A.

    2011-01-01

    , time of day or time of year during which the treatment was performed. Treatment was well tolerated, with a mean ± SD maximal pain score of 1·3 ± 1·5. Conclusions: Daylight-mediated MAL-PDT is an effective, convenient and nearly pain-free treatment for patients with multiple thin AKs. Daylight-mediated......, the inconvenience of clinic attendance and discomfort during therapy are significant drawbacks. Daylight-mediated PDT could potentially reduce these and may serve as an alternative to conventional PDT. Objectives: To compare the efficacy of methyl aminolaevulinate (MAL)-PDT with 11/2 vs. 21/2 h of daylight exposure...

  4. In-beam γ-ray spectroscopy of N=84 nuclei above Gd and the impact of the (πh11/2νh9/2)1+ attraction on their yrast lines

    International Nuclear Information System (INIS)

    Zhang Chengteng.

    1993-12-01

    In in-beam experiments using the γ-spectrometers Nordball at the Niels Bohr Institute and Osiris at the Hahn-Meitner Institute we populated the four N = 84 isotones 151 Ho, 152 Er, 153 Tm and 154 Yb through compound evaporation reactions induced with medium HI beams of masses ranging from 28 to 56. All observed γ-transitions with intensities above 1% (5% in 154 Yb) of the respective exit channel were placed in the level schemes, with spins established up to 10 MeV (8 MeV for 154 Yb) and parties up to between 5 and 7 MeV. We have found that in these N = 84 nuclei the multi-valence particle configurations πh n 11/2 νf 2 7/2 and πh n 11/2 νf 7/2 h 9/2 are strongly populated in the yrast cascades, and we have observed them up to their maximum spins of 43/2 - in Ho (at 4.8 MeV), 24 + in Er (7.5 MeV), 51/2 - in Tm (6.9 MeV), and only up to 24 + in Yb, 0.5 MeV below the fully aligned 26 + state expected at 9.1 MeV. The πh n νf 2 configuration forms smooth sections of the yrast line, while the more irregular yrast line of the πh n νfh character reflects the strong (νfh)8 + two-body attraction which gives rise to pronounced yrast line dips. We have also carried out full shell model calculations of these yrast lines, which are in excellent agreement with the experimental data. Since we take all dynamic input values, i.e. the two-body matrix elements and the single particle energies, from experiment, the calculations are free of any adjusted parameter. An interesting new result is the systematic identification in the πh n 11/2 νfh configuration of yrast states formed by specific proton couplings, where the strongly attractive (πh 11/2 νh 9/2 )1 + interaction is activated. As a consequence these states drop down to the yrast lines and in energy below the maximum aligned state of the next lower proton seniority. These seniority inverted yrast states were systematically identified in the four N = 84 nuclei, including two such states in 153 T, the first N 84

  5. Signature inversion in πh{sub 11/2} x νi{sub 13/2} band of {sup 152}Eu and {sup 154,156}Tb

    Energy Technology Data Exchange (ETDEWEB)

    Kumar, Sushil [Akal University, Department of Physics, Talwandi Sabo (India); Maharishi Markandeshwar University, Department of Physics, Mullana (India); Singh, Sukhjeet [Akal University, Department of Physics, Talwandi Sabo (India); Sharma, Vandana; Sharma, J.K. [Maharishi Markandeshwar University, Department of Physics, Mullana (India)

    2017-04-15

    The phenomenon of signature inversion observed in the πh{sub 11/2} x νi{sub 13/2} band of {sup 152}Eu and {sup 156}Tb nuclides is revisited through the axially symmetric two quasiparticle plus rotor model approach. The magnitude of experimentally observed signature splitting and point of signature inversion, which could not be explicitly reproduced in the earlier calculations, is successfully reproduced in the present study. Some of the critical issues, such as violation of the well-established Gallagher Moszkowski (GM) rule for eight GM doublets appearing in the basis space of earlier calculations of {sup 152}Eu and {sup 156}Tb, are fixed and also the ambiguity regarding spin assignment to this band observed in {sup 156}Tb is resolved. These calculations are further extended to the same band (πh{sub 11/2} x νi{sub 13/2}) observed in {sup 154}Tb nuclide and signature inversion observed in this band is successfully reproduced. (orig.)

  6. Simultaneous occurrence of t(9;22)(q34;q11.2) and t(16;16)(p13;q22) in a patient with chronic myeloid leukemia in blastic phase.

    Science.gov (United States)

    Zámecníkova, Adriana; Al Bahar, Soad; Ramesh, Pandita

    2008-06-01

    Coexistence of two specific chromosomal translocations in the same clone is an infrequent phenomenon and has only rarely been reported in hematological malignancies. We report a combination of t(16;16)(p13;q22), the Philadelphia translocation t(9;22)(q34;q11.2), and deletion of the long arm of chromosome 7 in a patient with chronic myeloid leukemia in blast phase. Monotherapy treatment with imatinib mesylate resulted in the disappearance of the Ph-positive clone, but with persistence of t(16;16) and del(7) in all of the metaphases examined. The case illustrates that, although imatinib mesylate can be an effective treatment in eradication of the BCR-ABL fusion gene cells, the occurrence of additional specific abnormalities in Philadelphia-positive leukemias may pose a significant therapeutic challenge. (c) 2008 Elsevier Inc.

  7. Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.

    Science.gov (United States)

    Doyen, Jérôme; Carpentier, Xavier; Haudebourg, Juliette; Hoch, Benjamin; Karmous-Benailly, Houda; Ambrosetti, Damien; Fabas, Thibault; Amiel, Jean; Lambert, Jean-Claude; Pedeutour, Florence

    2012-11-01

    We observed a t(11;22)(q23-24;q11.2-12) and monosomy 3 in renal tumor cells from a 72-year-old man. The hypothesis of a primitive peripheral neuroectodermal tumor (PPNET) located in the kidney was promptly excluded: Histologically, the tumor was a clear cell renal cell carcinoma (RCC) and we did not observe an EWSR1 gene rearrangement. The constitutional origin of this alteration was established. We report on the second case of RCC in a patient with a constitutional t(11;22). The t(11;22)(q23;q11.2) is the main recurrent germline translocation in humans. Unbalanced translocation can be transmitted to the progeny and can cause Emanuel syndrome. Our observation alerts cancer cytogeneticists to the fortuitous discovery of the constitutional t(11;22) in tumor cells. This translocation appears grossly similar to the t(11;22)(q24;q12) of PPNET and should be evoked if present in all cells of a tumor other than PPNET. This is important when providing appropriate genetic counseling. Moreover, the potential oncogenic role of the t(11;22) and its predisposing risk of cancer are under debate. The family history of the patient revealed a disabled brother who died at an early age from colon cancer and a sister with breast cancer. This observation reopens the issue of a link between the constitutional t(11;22) and cancer, and the utility of cancer prevention workups for t(11;22) carriers. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13(q26.2;p11.2: Further Delineation of 3q Duplication Syndrome

    Directory of Open Access Journals (Sweden)

    M. Abreu-González

    2013-01-01

    Full Text Available Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13(q26.2;p11.2. As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

  9. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype

    DEFF Research Database (Denmark)

    Figueroa, Jonine D; Garcia-Closas, Montserrat; Humphreys, Manjeet

    2011-01-01

    for tumors of lower grade (case-only P= 6.7 × 10(-3)) and lobular histology (case-only P= 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling......A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer......10483813 (r(2)= 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11...

  10. In situ Observation of Direct Electron Transfer Reaction of Cytochrome c Immobilized on ITO Electrode Modified with 11-{2-[2-(2-Methoxyethoxy)ethoxy]ethoxy}undecylphosphonic Acid Self-assembled Monolayer Film by Electrochemical Slab Optical Waveguide Spectroscopy.

    Science.gov (United States)

    Matsuda, Naoki; Okabe, Hirotaka; Omura, Ayako; Nakano, Miki; Miyake, Koji

    2017-01-01

    To immobilize cytochrome c (cyt.c) on an ITO electrode while keeping its direct electron transfer (DET) functionality, the ITO electrode surface was modified with 11-{2-[2-(2-methoxyethoxy)ethoxy]ethoxy}undecylphosphonic acid (CH 3 O (CH 2 CH 2 O) 3 C 11 H 22 PO(OH) 2 , M-EG 3 -UPA) self-assembled monolayer (SAM) film. After a 100-times washing process to exchange a phosphate buffer saline solution surrounding cyt.c and ITO electrode to a fresh one, an in situ observation of visible absorption spectral change with slab optical waveguide (SOWG) spectroscopy showed that 87.7% of the cyt.c adsorbed on the M-EG 3 -UPA modified ITO electrode remained on the ITO electrode. The SOWG absorption spectra corresponding to oxidized and reduced cyt.c were observed with setting the ITO electrode potential at 0.3 and -0.3 V vs. Ag/AgCl, respectively, while probing the DET reaction between cyt.c and ITO electrode occurred. The amount of cyt.c was evaluated to be about 19.4% of a monolayer coverage based on the coulomb amount in oxidation and reduction peaks on cyclic voltammetry (CV) data. The CV peak current maintained to be 83.4% compared with the initial value for a M-EG 3 -UPA modified ITO electrode after 60 min continuous scan with 0.1 V/s between 0.3 and -0.3 V vs. Ag/AgCl.

  11. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

    Science.gov (United States)

    Zhu, Jun; Qiu, Jun; Magrane, Gregg; Abedalthagafi, Malak; Zanko, Andrea; Golabi, Mahin; Chehab, Farid F

    2012-01-01

    We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we excluded a CSS diagnosis by exome sequencing based on the absence of deleterious mutations in six chromatin-remodeling genes recently shown to cause CSS. Thus, molecular characterization of her translocation could delineate genes that underlie other syndromes resembling CSS. Comparative genomic hybridization microarrays revealed on chromosome 7 the duplication of a 434,682 bp region that included the tail end of an uncharacterized gene termed C7orf58 (also called CPED1) and spanned the entire WNT16 and FAM3C genes. Because the translocation breakpoint on chromosome 22 did not disrupt any apparent gene, her disorder was deemed to result from the rearrangement on chromosome 7. Mapping of yeast and bacterial artificial chromosome clones by fluorescent in situ hybridization on chromosome spreads from this patient showed that the duplicated region and all three genes within it were located on both derivative chromosomes 7 and 22. Furthermore, DNA sequencing of exons and splice junctional regions from C7orf58, WNT16 and FAM3C revealed the presence of potential splice site and promoter mutations, thereby augmenting the detrimental effect of the duplicated genes. Hence, dysregulation and/or disruptions of C7orf58, WNT16 and FAM3C underlie the phenotype of this patient, serve as candidate genes for other individuals with similar clinical features and could provide insights into the physiological role of the novel gene C7orf58.

  12. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22(q32.1;q11.2 chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

    Directory of Open Access Journals (Sweden)

    Jun Zhu

    Full Text Available We characterized the t(7;22(q32;q11.2 chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS, we excluded a CSS diagnosis by exome sequencing based on the absence of deleterious mutations in six chromatin-remodeling genes recently shown to cause CSS. Thus, molecular characterization of her translocation could delineate genes that underlie other syndromes resembling CSS. Comparative genomic hybridization microarrays revealed on chromosome 7 the duplication of a 434,682 bp region that included the tail end of an uncharacterized gene termed C7orf58 (also called CPED1 and spanned the entire WNT16 and FAM3C genes. Because the translocation breakpoint on chromosome 22 did not disrupt any apparent gene, her disorder was deemed to result from the rearrangement on chromosome 7. Mapping of yeast and bacterial artificial chromosome clones by fluorescent in situ hybridization on chromosome spreads from this patient showed that the duplicated region and all three genes within it were located on both derivative chromosomes 7 and 22. Furthermore, DNA sequencing of exons and splice junctional regions from C7orf58, WNT16 and FAM3C revealed the presence of potential splice site and promoter mutations, thereby augmenting the detrimental effect of the duplicated genes. Hence, dysregulation and/or disruptions of C7orf58, WNT16 and FAM3C underlie the phenotype of this patient, serve as candidate genes for other individuals with similar clinical features and could provide insights into the physiological role of the novel gene C7orf58.

  13. Pnömatik Ekim Makinalarında Farklı Tip Dağıtma Başlıkları, Hava Hızı ve Gübreleme Normunun Akış Düzgünlüğüne Etkisi

    OpenAIRE

    Güler, İbrahim Ethem; Uygan, Fatih

    2010-01-01

    Bu araştırma pnömatik tahıl ekim makinalarında kullanılan farklı tip dağıtma başlıklarında, hava hızının ve gübreleme normunun akış düzgünlüğüne etkisini belirlemek için yapılmıştır. Araştırmada üç farklı tip dağıtma başlığı (T, Huni ve Y), üç farklı hava hızında (26, 31, 36 m/s) denenmiştir. Denemelerde Diamonyum fosfat (DAP) ve Triple süper fosfat (TSP) gübreleri kullanılmıştır. Gübreleme normları 12, 16 ve 20 kg/da, makina ilerleme hızı 1,5 m/s ve sıra arası olarak 10 cm alınmıştır. Araştı...

  14. 3-D Animation, NL Editing & Special Effects Software Lab

    Data.gov (United States)

    Federal Laboratory Consortium — The Visual Effects Team of the Indirect Fire Division is a team of highly skilled people with specialized training and experience in Multimedia Production. Utilizing...

  15. 3l1rhiral ~nlIrnaL

    African Journals Online (AJOL)

    constant bah-bahing of laughter about nothing, above all a sort of heaviness and richness combined with a fundamental ill-will ... People one instinctively feels ... are the enemies of anything intelligent or sensitive or beautiful.' As Orwell's progress was not satisfactory he was moved to University College Hospital" in London.

  16. 3l1rhiral ~nlIrnaL

    African Journals Online (AJOL)

    tissue injury and carcinogenesis, are highlighted. Neutrophil production ... a family of 3 distinct glycoprotein adhesion molecules (L, E and P selectins), each of which .... transition metal-independent pathway of ·OH has been demonstrated in ...

  17. Bağlam temelli öğrenme ile lise fizik derslerinde kullanılabilecek günlük hayattan konular [Daily life subjects that can be used with context based learning in high school physics lessons

    Directory of Open Access Journals (Sweden)

    Ali ÇETİN

    2014-04-01

    Full Text Available Bu çalışmanın amacı bağlam temelli öğrenme sırasında kullanılabilecek günlük hayattan konuların belirlenmesi, bu konuların sınıf seviyelerine ve cinsiyetlere göre sınıflandırmasının yapılmasıdır. Çalışmada nitel araştırma yöntemi kullanılmıştır. Veri analizinde içerik analizi, yüzde ve frekans analizi gibi betimsel analizler kullanılmıştır. Bilgiler belirli kriterlere göre kategoriler halinde gruplandırılmış ve sayısal, yüzdesel ve oransal olarak görülme sıklığı ortaya konmuştur. Çalışmaya Ankara il sınırları içerisindeki bir okulun 9., 10. ve 11. sınıflarında okuyan 94 öğrenci katılmıştır ve günlük hayata ilişkin fizik konularında ayrı ayrı birer poster hazırlamaları istenmiştir. Toplanan posterler konu başlıklarına, sınıf seviyelerine ve cinsiyetlere göre sınıflandırılarak alt kategoriler oluşturulmuştur. Her alt kategoride hazırlanan poster sayıları kullanılarak, öğrencilerin bu alt başlığa olan ilgileri ortaya konmuştur. Başlıklar kullanılarak oluşturulan alt kategoride fizik dersindeki sekiz konu başlığı (mekanik, elektrik, uçan cisimler, astronomi ve uzay, gökyüzü, modern fizik, optik, dalgalar ortaya çıkmıştır. Sınıf seviyeleri kullanılarak oluşturulan alt kategoriye göre 9. sınıf öğrencilerinin en fazla gökyüzü, 10. sınıf öğrencilerinin en fazla astronomi ve uzay konularına ilgi duydukları ortaya çıkmıştır. Cinsiyete göre yapılan sınıflandırmada ise 9. sınıflarda sadece erkek öğrencilerin uçan cisimler konusunu seçtiği, mekanik, astronomi ve uzay konularında erkeklerin ilgilerinin kızlara göre daha yüksek olduğu, dalgalar konusunda ise kızların erkeklerden daha çok ilgi duydukları ortaya çıkmıştır. Çalışmanın sonuç kısmında ortaöğretim fizik programı ile öğrencilerin fizik derslerinde görmek istedikleri konuların benzerlik ve farklılıkları karşılaştırılmıştır.

  18. A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2014-03-01

    Conclusion: An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22–p11.21 microdeletion and 22q11.2 microduplication.

  19. Stimulated emission (4F3/2 → 4I11/2 channel) with LD and Xe-flashlamp pumping of tetragonal, incommensurately modulated Ca2MgSi2O7:Nd3+(Na+) – a new disordered laser crystal

    International Nuclear Information System (INIS)

    Kaminskii, A A; Nakao, H; Ueda, K; Shirakawa, A; Bohatý, L; Becker, P; Liebertz, J; Kleinschrodt, R

    2010-01-01

    Non-centrosymmetric tetragonal crystal Ca 2 MgSi 2 O 7 :Nd 3+ (Na + ) with incommensurately modulated melilite-type structure is presented as a new laser crystal. By LD and Xe-flashlamp pumping its CW and free-running pulsed stimulated emission of the 4 F 3/2 → 4 I 11/2 generation channel of Nd 3+ lasant ions was excited

  20. New nonlinear-laser properties of ferroelectric Nd3+:Ba2NaNb5O15 - cw stimulated emission (4F3/2 → 4I11/2 and 4F3/2 → 4I13/2 ), collinear and diffuse self-frequency doubling and summation

    International Nuclear Information System (INIS)

    Kaminskii, Alexandr A; Jaque, D; Garsia, Sole J; Capmany, J; Bagayev, S N; Ueda, Ken-ichi

    1999-01-01

    A new cw laser with self-frequency doubling and summation of 1-μm oscillation ( 4 F 3/2 → 4 I 11/2 ) was constructed on the basis of an orthorhombic Nd 3+ :Ba 2 NaNb 5 O 15 crystal. The 4 F 3/2 → 4 I 13/2 inter-Stark transition was used to excite cw 1.3-μm stimulated emission from this ferroelectric. (letters to the editor)

  1. Meta Analiz Yaklaşımı ile Laktasyon Sırası ve Buzağılama Mevsiminin 305 Günlük Laktasyon Süt Verimi Üzerindeki Etki Büyüklüğünün Tahmini

    Directory of Open Access Journals (Sweden)

    Hande Küçükönder

    2014-08-01

    Full Text Available Bu çalışmada, Siyah Alaca ırkı ineklerde süt verimini etkileyen faktörlerden laktasyon sırası ve buzağılama mevsimin etkisi meta analiz yöntemi ile incelenmiştir. Meta analiz aynı amaca yönelik olarak başka araştırıcılar tarafından yapılmış olan çalışmaların bir araya getirilerek yeniden değerlendirilmesini sağlayan istatistiksel bir tekniktir. Bu yöntem, çeşitli alanlarda yapılmış olan çalışmaların sonuçlarını birleştirir, özetler ve araştırıcılar arasında ortak bir yargının oluşturulmasında katkı sağlar. Bu sebeplerden ötürü, bu çalışmada 7 farklı araştırıcının çalışmaları meta analiz ile birleştirilmiş ve incelenen parametreler hakkında ortak bir bakış açısının yaratılması hedeflenmiştir. Ayrıca araştırmada etki büyüklüklerinin heterojenlik durumu Ki kare ve I2 test istatistikleri ile araştırılmış ve bu değerler sırasıyla ×^2=50,205 ve I2=%88 olarak bulunmuştur. Bundan dolayı çalışmaların birleştirilmesi için sabit etki modeli kullanılmamıştır. Araştırmada, söz konusu konuya ilişkin olarak araştırıcıların bulmuş oldukları çalışma sonuçları meta analitik tarama yöntemi ile taranmış meta analizde etki büyüklüğü ölçütü olan odds oranının (OR kullanılması ile birleştirilmiştir. Meta analiz sonucunda Odds oranı değeri 0,759 bulunmuş olup, bulunan etki düzeyi orta olarak tespit edilmiştir. Yapılan bu çalışmayla Siyah Alaca sığırlarda 305 günlük laktasyon süt verimi üzerinde, laktasyon sırasının yüksek süt verimi elde edilmesinde Yapmış olduğu katkı payının buzağılama mevsimine nazaran 0,759 kat daha fazla olduğu belirlenmiştir.

  2. 9 CFR 11.2 - Prohibitions concerning exhibitors.

    Science.gov (United States)

    2010-01-01

    ... horses that weighs more than 16 ounces. (10) Artificial extension of the toe length, whether accomplsihed... of the hoof wall, to the distal portion of the hoof wall at the tip of the toe. The artificial... unsteadiness of stance in the horse with resulting muscle and tendon strain due to the horse's weight and...

  3. Genetics Home Reference: 16p11.2 duplication

    Science.gov (United States)

    ... if a disorder seems to run in my family? What are the different ways in which a genetic condition can be ... Children's Hospital: Autism Spectrum Disorders National Institute on Deafness and Other Communication ...

  4. Genetics Home Reference: 22q11.2 duplication

    Science.gov (United States)

    ... 17 [updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  5. Genetics Home Reference: 16p11.2 deletion syndrome

    Science.gov (United States)

    ... Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar ... 2015 May 1;77(9):785-93. doi: 10.1016/j.biopsych.2014.04.021. Epub 2014 Jun ... 2009 Nov-Dec;52(6):433-5. doi: 10.1016/j.ejmg.2009.09.007. Epub 2009 Sep ...

  6. Genetics Home Reference: 22q11.2 deletion syndrome

    Science.gov (United States)

    ... Acad Child Adolesc Psychiatry. 2006 Sep;45(9):1104-13. Citation on PubMed Yagi H, Furutani Y, ... professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright ...

  7. Pnömatik Ekim Makinalarında Farklı Tip Dağıtma Başlıkları, Hava Hızı ve Gübreleme Normunun Akış Düzgünlüğüne Etkisi / The Effects of Distributor Head Types, Air Velocity and Fertilizing Rate on Flow Evenness in Pneumatic Seed Drills

    OpenAIRE

    Güler, İbrahim Ethem; Uygan, Fatih

    2011-01-01

    ÖZET : Bu araştırma pnömatik tahıl ekim makinalarında kullanılan farklı tip dağıtma başlıklarında, hava hızının ve gübrelemenormunun akış düzgünlüğüne etkisini belirlemek için yapılmıştır. Araştırmada üç farklı tip dağıtma başlığı (T, Huni ve Y), üç farklıhava hızında (26, 31, 36 m/s) denenmiştir. Denemelerde Diamonyum fosfat (DAP) ve Triple süper fosfat (TSP) gübrelerikullanılmıştır. Gübreleme normları 12, 16 ve...

  8. 75 FR 58429 - Notice of Inventory Completion: Northwest Museum of Arts & Culture, Spokane, WA

    Science.gov (United States)

    2010-09-24

    ... 31 (45-ST-31), one-quarter of a mile above the Gifford-Inchelium ferry landing, in Stevens County, WA... deformation, and structural remnants found at the sites (pit and earth ovens), it is determined that the human...

  9. 77 FR 25742 - Notice of Inventory Completion: Northwest Museum of Arts & Culture, Spokane, WA; Correction

    Science.gov (United States)

    2012-05-01

    ...-58430, September 24, 2010), paragraph six is corrected by substituting the following paragraph: Human... funerary objects are 1 basalt piece, 1 bone awl, 2 unworked and worked cache forms, 1 scraper, 2 pestles, 1 blade fragment, 1 piece of wood, 3 projectile points, and 1 knife. In the Federal Register (75 FR 58429...

  10. 76 FR 27668 - ASC Machine Tools, Inc., Spokane Valley, WA; Notice of Negative Determination on Reconsideration

    Science.gov (United States)

    2011-05-12

    ... of export sales of foreign customers' bids to competitors outside the United States. The initial... Canada are competitors of the subject firm and not customers, as inferred in the request for reconsideration. As such, the Department did not conduct a bid survey in regard to the aforementioned companies...

  11. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Lee, Chen-Chi; Wang, Wayseen

    2014-03-01

    To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)×1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)×3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication. Copyright © 2014. Published by Elsevier B.V.

  12. Ferroelectric Nd3+:SrxBa1-x(NbO3)2-a new nonlinear laser crystal: cw 1-μm stimulated emission (4F3/2→4I11/2) and diffuse self-frequency doubling

    International Nuclear Information System (INIS)

    Kaminskii, Alexandr A; Garsia, Sole J; Jaque, D; Capmany, J; Bagayev, S N

    1998-01-01

    Stimulated emission as a result of the inter-Stark transition in the 1-μm 4 F 3/2 → 4 I 11/2 channel of Nd 3+ ions was excited for the first time in an acentric disordered Sr x Ba 1-x (NbO 3 ) 2 (x∼0.6) crystal. The low-threshold lasing of this crystal at the 1.0626 μm wavelength was accompanied by diffuse intracavity generation of the second harmonic. (letters to the editor)

  13. Enhanced ~2.7 µm emission investigation of Er{sup 3+}:{sup 4}I{sub 11/2}→{sup 4}I{sub 13/2} transition in Yb,Er,Pr:SrLaGa{sub 3}O{sub 7} crystal

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Yan [Key Laboratory of Optoelectronic Materials Chemistry and Physics, Fujian Institute of Research on the Structure of Matter, Chinese Academy of Sciences, Fuzhou, Fujian 350002 (China); Zhang, Baotong [Key Laboratory of Optoelectronic Materials Chemistry and Physics, Fujian Institute of Research on the Structure of Matter, Chinese Academy of Sciences, Fuzhou, Fujian 350002 (China); College of Materials Science and Engineering, Fujian Normal University, Fuzhou, Fujian 350007 (China); Li, Jianfu; Zhu, Zhaojie; You, Zhenyu [Key Laboratory of Optoelectronic Materials Chemistry and Physics, Fujian Institute of Research on the Structure of Matter, Chinese Academy of Sciences, Fuzhou, Fujian 350002 (China); Tu, Chaoyang, E-mail: tcy@fjirsm.ac.cn [Key Laboratory of Optoelectronic Materials Chemistry and Physics, Fujian Institute of Research on the Structure of Matter, Chinese Academy of Sciences, Fuzhou, Fujian 350002 (China)

    2017-03-15

    The bulk crystal of 5at% Yb{sup 3+}, 20 at% Er{sup 3+} and 0.2 at% Pr{sup 3+} triply doped SrLaGa{sub 3}O{sub 7} (abbr. as Yb,Er,Pr:SLGO) was grown by the Czochralski method. The effects of co-dopant Yb{sup 3+} and Pr{sup 3+} on the spectroscopic properties and the mutual energy transfer mechanism were investigated, via the measurements of its absorption, near-infrared and mid-infrared fluorescence spectra, as well as the fluorescence decay curves of Er{sup 3+}:{sup 4}I{sub 13/2} and {sup 4}I{sub 11/2} levels at room temperature. As compared with 20at% Er{sup 3+} singly doped SrLaGa{sub 3}O{sub 7} crystal, ~2.7 µm emission intensity corresponding to Er{sup 3+}:{sup 4}I{sub 11/2}→{sup 4}I{sub 13/2} transition is enhanced greatly in the Yb,Er,Pr:SLGO crystal. Spectral analyses indicate that the sensitization of Yb{sup 3+} to Er{sup 3+} improves the ~2.7 µm emission in Yb,Er,Pr:SLGO crystal, meanwhile, the depopulation of Pr{sup 3+} from Er{sup 3+} decreases the ~1.5 µm emission and inhibits the self-termination effect. The energy transfer efficiencies of Yb{sup 3+}→Er{sup 3+} (ET1), Er{sup 3+}→Pr{sup 3+} (ET2) and Er{sup 3+}→Pr{sup 3+} (ET3) were estimated and discussed. The above results conclude that Yb,Er,Pr:SLGO crystal is a good candidate for LD pumped mid-infrared laser. - Graphical abstract: As compared with Er: SrLaGa{sub 3}O{sub 7} crystal, ~2.7 µm MIR emissions corresponding to Er{sup 3+}:{sup 4}I{sub 11/2}→{sup 4}I{sub 13/2} transition were enhanced in Yb{sup 3+}, Er{sup 3+} and Pr{sup 3+} triply doped SrLaGa{sub 3}O{sub 7} crystal owing to the sensitization of co-dopant Yb{sup 3+} via ET1, at the same time, ~1.5 µm NIR emissions were weakened owing to the depopulation of co-dopant Pr{sup 3+} via ET3.

  14. Identification of a rare de novo three-way complex t(5;20;8(q31;p11.2;p21 with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

    Directory of Open Access Journals (Sweden)

    Bejjani Bassem A

    2009-01-01

    Full Text Available Abstract Background Complex chromosome rearrangements (CCRs, which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints. Results We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8(q31;p11.2;p21 resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization. Discussion The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.

  15. Experimental Evaluation of Fuzzy Logic Control of a Flexible Arm Manipulator

    Science.gov (United States)

    1993-12-09

    linki -diag = [M-jinkld"iagI]; M-tipl.diag = O*ones(n 1); for i=2n-, M-tipl-diag(iji) = mtl*l1**2;... end M....tipl-diag(l,l) = mtl*(ohl+Hl)**2; M...M-jink lofC~diagl 1 = O*ones(nl~nl); for i= 2:nl-1,.... forj = i+1:nl,... M- linki -off-diagll(i,j) =(1I2)*ml1*11**2+(n1-j)*mll*11**2;... end end for...i = 2:nl,... M~ linki -off~diagl 1(1,1) =(1/2)*mll*(ohl+Il)*Il+(nl-i)*inil*(ohl+Il)*ll;... end Mjinkl~off..diagllI = MjIinkl~offjLiagl l+MjIinkl_off

  16. Criteria of Coverage, Novelty, Search Printout and User Effort in Evaluating the Quality of Literature Searches Bilgi Taramalarının Nitelik Açısından Değerlendirilmesinde Bütünlük (Kapsam, Yenilik, Tarama Çıktısı ve Kullanıcı Çabası Ölçütleri

    Directory of Open Access Journals (Sweden)

    Birgül Egeli

    1995-09-01

    Full Text Available In general terms, relevance is the basic criterion which designates the quality of literature searches. Users of searching services are principally interested in relevance, that is the number of relevant articles retrieved. However, relevance alone, in spite of its prime significance, does not satisfy the user needs in total. Users express some other needs in terms of quality. Such needs, which a searching service or system should meet, caused to originate some other quality criteria, namely the coverage, novelty, search printout and user effort. Besides relevance, tliese criteria are used to evaluate the performance and effectiveness of searching systems in terms of quality. The present study discusses the abovementioned criteria in detail. The functions of these criteria in designating the search effectiveness as well as their roles in search failures are stated. Some approaches and solutions aimingat the practicing searcfiers in particular are offered to minimize search failures as well. Bilgi taramalarının nitelik açısından başarısı, temelde onların anlamlılık yönünden başarılı olup olmadıkları ile belirlenir. Tarama hizmetinin kullanıcıları anlamlılığa en büyük önemi vermekle beraber, sadece anlamlı künyelere erişme ile yetinmemekte, nitelikle ilgili başka gereksinim ve beklentilerini de dile getirmektedirler. Söz konusu kullanıcı gereksinim ve beklentileri, bütünlük (kapsam, yenilik, tarama çıktısı ve kullanıcı çabası gibi nitelik ölçütlerinin ortaya çıkmasına neden olmuştur. Bu ölçütler, anlamlılık ölçütü ile birlikte, taramaların nitelik açısından değerlendirilmesinde kullanılır olmuşlardır. Bu makalede anlamlılık dışında kalan tüm nitelik ölçütleri, tarama başarısını belirleyen yönleriyle tartışılmıştır. Ölçütlerin tarama başarısızlıklarını da ortaya çıkarabilecekleri üzerinde durularak, bu başarısızlıkları en aza indirebilmek

  17. Türk Dili Edebiyatı ve Türkçe Öğretmeni Adaylarının Sözcük Dağarcıklarının Değerlendirilmesi ve Günlük Yaşamlarına Yansımaları Evaluation of Turkish Literature and Turkish Language Teaching Majors’ Vocabulary Knowledge and Its Effect on Their Daily Life

    Directory of Open Access Journals (Sweden)

    Fatma SUSAR KIRMIZI

    2012-12-01

    özcük kadar kendini ifade etme şansına sahiptir. Bu araştırmanın amacı, üniversite öğrencilerinin sözcük dağarcıklarının yeterliliğini değerlendirmek ve sözcük dağarcıklarının günlük yaşamlarını nasıl etkilediğini tespit etmektir. Bu çalışmada nitel ve nicel araştırma yöntemleri bir arada kullanılmıştır. Araştırma Denizli‟de, Pamukkale Üniversitesi, Fen-Edebiyat Fakültesi Türk Dili ve Edebiyatı ile Eğitim Fakültesi Türkçe Eğitimi Bölümlerinde, 3. ve 4. sınıflarda gerçekleştirilmiştir (n=204. Örneklemin belirlenmesinde nitel araştırmada sıkça başvurulan “kolay ulaşılabilir durum örneklemesinden” yararlanılmıştır. Öğrencilerin Cumhuriyet dönemi edebiyatına ilişkin sözcük dağarcığını belirlemek için beş metinden yararlanılmıştır. Metinlerde geçen ve öğrencilerin bilmesi gerektiği düşünülen sözcüklere ilişkin bir sözcük havuzu oluşturulmuş daha sonra öğrencilerin bu sözcüklerden ne kadarını bilip bilmediği belirlenmeye çalışılmıştır. Bunun dışında öğrencilerin sözcük dağarcıklarının günlük yaşamlarına etkilerini belirlemek için araştırmacılar tarafından geliştirilen “yarı yapılandırılmış görüşme formu” kullanılmıştır. Öğrencilerin görüşlerini içeren yazılı formlar nitel veri seti olarak değerlendirilmeye alınmıştır. Bu araştırma kapsamında öğrencilerin en çok bilemediği üç sözcük, şekva, müstevlî ve müsavattır. Genel olarak Eğitim Fakültesi öğrencileri sözcük dağarcığının statü kazandırmada etkili olduğunu ifade etmektedir. Öğrenciler öğrendikleri yeni sözcükleri şiir, düz yazı, sınavlar ya da yazı çalışmalarının farklı bir türünde hatta internet yazılarında bile kullanmaktadır.

  18. The Agromere "Arena" : bridging the boundaries between the urban environment and agriculture in Almere (NL)

    NARCIS (Netherlands)

    Jansma, J.E.; Veen, E.J.

    2012-01-01

    Highly urbanised countries like The Netherlands tend towards a sharp delineation between the rural and urban environment, between food production and food consumption. Growing concerns about food prices, food security and the sustainability of the contemporary agri-food system reluctantly places

  19. Simulation of the Prokaryotic Cell Cycle at http://simon.bio.uva.nl/cellcycle/

    Directory of Open Access Journals (Sweden)

    Arieh Zaritsky

    2012-02-01

    Full Text Available The bacterial Cell Cycle is presented using the Simulation program CCSim, which employs four parameters related to time (inter-division τ, replication C, division D and size (mass at replication initiation Mi, sufficient to describe and compare bacterial cells under various conditions. The parameter values can be altered and the effects of the alterations can be seen. CCSim is easy to use and presents the kinetics of cell growth in a digestible format. Replicating chromosomes and growing bacillary cells are coupled to parameters that affect the cell cycle and animated. It serves as an educational tool to teach bacteriology and to compare experimental observations with the model best describing cell growth thus improve our understanding of regulatory mechanisms. Examples are displayed of transitions between known physiological states that are consistent with experimental results, including one that explains strange observations. The program predicts enhanced division frequencies after a period of slow replication under thymine limitation if a minimal distance (Eclipse exists between successive replisomes, as observed. Missing features and ways to improve, extend and refine CCSim are proposed, for both single cells and random populations under steady-states of exponential growth and during well-defined transitions. Future improvements and extensions are proposed for single cells and populations.

  20. Simulation of the Prokaryotic Cell Cycle at simon.bio.uva.nl/cellcycle/

    Directory of Open Access Journals (Sweden)

    Charles E. Helmstetter

    2012-02-01

    Full Text Available The bacterial Cell Cycle is presented using the Simulation program CCSim, which employs four parameters related to time (inter-division τ, replication C, division D and size (mass at replication initiation Mi, sufficient to describe and compare bacterial cells under various conditions. The parameter values can be altered and the effects of the alterations can be seen. CCSim is easy to use and presents the kinetics of cell growth in a digestible format. Replicating chromosomes and growing bacillary cells are coupled to parameters that affect the cell cycle and animated. It serves as an educational tool to teach bacteriology and to compare experimental observations with the model best describing cell growth thus improve our understanding of regulatory mechanisms. Examples are displayed of transitions between known physiological states that are consistent with experimental results, including one that explains strange observations. The program predicts enhanced division frequencies after a period of slow replication under thymine limitation if a minimal distance (Eclipse exists between successive replisomes, as observed. Missing features and ways to improve, extend and refine CCSim are proposed, for both single cells and random populations under steady-states of exponential growth and during well-defined transitions. Future improvements and extensions are proposed for single cells and populations.

  1. Common Exercise X, step 1 using Matlab Reference: A41-T3-NL-05-4

    NARCIS (Netherlands)

    Schijndel, van A.W.M.

    2005-01-01

    This document presents a preliminary solution to Common exercise x. The exercise is solved by writing a mfile in MatLab. Appendix A provides a table with the requested calculations results, with: Orient Orientation Pin calculated internal pressure err Pin error in calculated internal pressure G1

  2. Closing the life cycle of phosphorus in an urban food system: the case Almere (NL)

    NARCIS (Netherlands)

    Dijk, van W.; Jansma, J.E.; Sukkel, W.; Reuler, van H.; Vermeulen, T.; Visser, A.J.

    2017-01-01

    In order to explore the possibilities of a local food system and its effects on the nutrient cycle, a desk study was executed for the urban region Almere, a Dutch city located in the Flevo Polder with about 200,000 inhabitants. This desk study takes this urban perspective as starting point in the

  3. Seismic isolation for existing masonry houses in Groningen/ NL combined with thermal upgrading

    NARCIS (Netherlands)

    Blok, Rijk; Teuffel, Patrick

    2015-01-01

    Induced earthquakes, caused by the winning of natural Gas in the North of the Netherlands (Groningen province), are causing significant damage to the existing, often relatively weak, masonry buildings. This seismic hazard and seismic rehabilitation problem in the Groningen area involves much more

  4. Information on radionuclides on the Internet. http://www.tue.nl/sbd/nvsnucleair.htm

    International Nuclear Information System (INIS)

    Franken, Y.

    1997-01-01

    A selection from Internet information sources on the subjects of radiation protection, dosimetry and medical radiation applications are discussed. The article is also available through the Internet (see title) including links to the discussed sites

  5. Migrantide raha hoiab vee peal suurt osa endisest NL-ist / Ahto Lobjakas

    Index Scriptorium Estoniae

    Lobjakas, Ahto, 1970-

    2007-01-01

    Brüsselis tutvustatud Maailmapanga uuringust, mille kohaselt on suure osa endise NSVL-i vabariikide jaoks arvestatav sissetulekuallikas migrantide kojusaadetud raha. Lisa: Lääne-Euroopasse ja Venemaale

  6. Adherence to dietary guidelines and cardiovascular disease risk in the EPIC-NL cohort

    NARCIS (Netherlands)

    Struijk, E.A.; May, A.M.; Wezenbeek, N.L.W.J.; Fransen, H.; Soedamah-Muthu, S.S.; Geelen, A.; Boer, J.; Schouw, van der Y.T.; Bueno de Mesquita, H.B.; Beulens, J.W.J.

    2014-01-01

    Background Global and national dietary guidelines have been created to lower chronic disease risk. The aim of this study was to assess whether greater adherence to the WHO guidelines (Healthy Diet Indicator (HDI)); the Dutch guidelines for a healthy diet (Dutch Healthy Diet-index (DHD-index)); and

  7. NL-Netherlands: Court applies Google Spain: no right to be forgotten for convicted criminal

    NARCIS (Netherlands)

    Breemen, V.

    2014-01-01

    On 18 September 2014, the Amsterdam Court handed down the first national application of the EU Court of Justice’s Google Spain judgment. The case was initiated by a convicted criminal after Google had not fully granted his online removal requests. The court rejected the claim, but it should be noted

  8. Airborne EM, Lithology and in-situ Data Used for Quantizing Groundwater Salinity in Zeeland (NL)

    Science.gov (United States)

    Meyer, U.; Siemon, B.; van Baaren, E.; Dabekaussen, W.; Delsman, J. R.; Karaoulis, M.; Gunnink, J.; Pauw, P.; Vermaas, T.

    2017-12-01

    In a setting of predominantly saline surface waters in Zeeland, the Netherlands, the only available shallow fresh groundwater is present in the form of freshwater lenses floating on top of the saline groundwater. This fresh water is vital for agricultural, industrial, ecological, water conservation and drinking water functions. An essential first step for managing the usable water properly is to know the present spatial fresh-brackish-saline groundwater distribution. As traditional salinity monitoring is labor-intensive, airborne electromagnetics, which is fast and can cover large areas in short time, is an efficient alternative. A consortium of BGR, Deltares and TNO conducted FRESHEM Zeeland (FREsh Salt groundwater distribution by Helicopter ElectroMagnetic survey in the Province of Zeeland) in 2014-17. An area of more than 2000 square km was surveyed using BGR's helicopter-borne geophysical system totaling to about 9,600 line-km. The HEM data, after inversion to 2.5 Million resistivity-depth models for each of the three 1D inversion procedures applied (Marquardt single site, smooth and sharp laterally constrained inversion), served as base-line information for further interpretation. A probabilistic Monte Carlo approach combines HEM resistivities, 3D lithology model data (GeoTOP), laboratory results (formation factor and surface conductivity) and local in-situ groundwater measurements for the translation of resistivity to Chloride concentration. The resulting 3D voxel model enables stakeholders to implement spatial Chloride concentration in their groundwater models.

  9. FRESHEM - Fresh-saline groundwater distribution in Zeeland (NL) derived from airborne EM

    Science.gov (United States)

    Siemon, Bernhard; van Baaren, Esther; Dabekaussen, Willem; Delsman, Joost; Gunnik, Jan; Karaoulis, Marios; de Louw, Perry; Oude Essink, Gualbert; Pauw, Pieter; Steuer, Annika; Meyer, Uwe

    2017-04-01

    In a setting of predominantly saline surface waters, the availability of fresh water for agricultural purposes is not obvious in Zeeland, The Netherlands. Canals and ditches are mainly brackish to saline due to saline seepage, which originates from old marine deposits and salt-water transgressions during historical times. The only available fresh groundwater is present in the form of freshwater lenses floating on top of the saline groundwater. This fresh groundwater is vital for agricultural, industrial, ecological, water conservation and drinking water functions. An essential first step for managing this fresh groundwater properly is to know the present spatial fresh-brackish-saline groundwater distribution. As traditional salinity monitoring is labour-intensive, airborne electromagnetics (AEM), which is fast and can cover large areas in short time, is an efficient alternative. A consortium of BGR, Deltares and TNO started FRESHEM Zeeland (FREsh Salt groundwater distribution by Helicopter ElectroMagnetic survey in the Province of Zeeland) in October 2014. Within 3x2 weeks of the first project year, the entire area of about 2000 km2 was surveyed using BGR's helicopter-borne geophysical system totalling to about 10,000 line-km. The HEM datasets of 17 subareas were carefully processed using advanced BGR in-house software and inverted to 2.5 Million resistivity-depth models. Ground truthing demonstrated that the large-scale HEM results fit very well with small-scale ground EM data (ECPT). Based on this spatial resistivity distribution, a 3D voxel model for Chloride concentration was derived for the entire province taking into account geological model data (GeoTOP) for the lithology correction and local in-situ groundwater measurements for the translation of water conductivity to Chloride concentration. The 3D voxel model enables stakeholders to implement spatial Chloride concentration in their groundwater models.

  10. Revised Uniform Summary of Surface Weather Observations (RUSSWO) for Fairchild AFB, Spokane, Washington. Parts A-F

    Science.gov (United States)

    1979-12-21

    WET BULB TEMPERATURE DEPRESSIO (F) ITOTAL TOTAL 9 . 1 1 1 1 1 1 1 5 - 6 1 1 8. 1 4 2 8 2 9 3 01 2 3 1 2 4 2 _ u l b ] W e t B u l b j (F) 0 1-2 3. 4...StIeSTATIO W VUAS SNTo PAGE i 3600O-0800 lift (L. S. TO) WET BULB TEXPERATURE DEPRESSIO (F) TOTAL TOTAL () 0 1-2 3-4 5.6 7-8 -9l 1 2l-1151j71192112~324125

  11. Draft Treatability Study in Support of Remediation by Natural Attenuation Building 1212 at Fairchild Air Force Base, Spokane, Washington

    Science.gov (United States)

    1997-01-01

    1975; Atlas , 1981, 1984, and 1988; Gibson and Subramanian, 1984; Reinhard et al., 1984; Young, 1984; Bartha , 1986; Wilson et al., 1986, 1987, and...Biotechnology of petroleum pollutant biodegradation: Microbial Ecology , vol. 12, p. 155-172. Bauman, B., 1991, Biodegradation research of the American...Perry, J.J., 1984, Microbial Metabolism of Cyclic Alkanes, In: Atlas , R.M ed. Petroleum Microbiology. Macmillan Publishing Co., New York, New York

  12. Final Treatability Study in Support of Remediation by Natural Attenuation Site FT-1 at Fairchild Air Force Base, Spokane, Washington

    Science.gov (United States)

    1997-10-01

    aquifer: Ground Water Monitoring Review, Winter, 1987, p. 64-71. Bartha , R., 1986, Biotechnology of petroleum pollutant biodegradation: Microbial Ecology ...trichloroethylene by the ammonia-oxidizing bacterium Nitrosomonas europaea: Biochem. Biophys. Res. Commun., vol. 159, p. 640-643. Atlas , R.M., 1981, Microbial ...role of electron donor for microbial metabolism and are completely degraded or detoxified (Bouwer, 1992). Electron acceptors are elements or

  13. 77 FR 25736 - Notice of Intent To Repatriate Cultural Items: Northwest Museum of Arts & Culture, Spokane, WA...

    Science.gov (United States)

    2012-05-01

    ... Register (75 FR 58424-58425, September 24, 2010), paragraph six is corrected by substituting the following... pendant, 5 scrapers, 2 bone awls, 1 piece of matting, 1 flake, 2 dentalia necklace fragments, 1 small box of dentalia beads, 1 bone needle, 1 copper pendant, 18 rolled copper beads, 6 dentalium, 1 piece of...

  14. A Novel Pseudo-Dicentric Variant of 16p11.2-q11.2 Contains Euchromatin from 16p11.2-p11.1 and Resembles Pathogenic Duplications of Proximal 16q

    DEFF Research Database (Denmark)

    Barber, J C K; Brasch-Andersen, Charlotte; Maloney, V K

    2012-01-01

    An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth retardation, microcephaly, and dysmorphic features. Dual color bacterial artificial chromosome fluorescence in situ hybridization (BAC FISH...

  15. Velocardiofacial syndrome in father and daughter: What is the mechanism for the deletion 22(q11.2q11.2) in only the daughter?

    Energy Technology Data Exchange (ETDEWEB)

    Magenis, R.E.; Gunter, K.; Toth-Fejel, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    E.G. had marked feeding difficulty noted at birth; the cause was determined to be a paralyzed palate. In 1992 chromosome studies were performed because of the provisional diagnosis of velocardiofacial syndrome, and a small interstitial deletion of chromosome 22 was found. Recently the family was seen in our Genetics Clinic. The father had unusual facial features shared by his daughter, a paralyzed upper lip and a history of repaired Tetralogy of Fallot. His chromosomes appeared normal. FISH studies were performed on the child`s peripheral blood using the ONCOR DiGeorge region probe (D22S75) and the deletion verified. However, the father`s chromosomes were not deleted for the ONCOR probe (D22S75) and probe DO832 sent to us by Peter Scambler. Skin cells were then obtained and no deletion was detected in a total of 66 cells examined using both probes. Several questions arise from these data: does the father have velocardiofacial syndrome? Does he have occult mosaicism? Does he have a molecular deletion not detected by the probes used? And was this deletion somehow {open_quotes}amplified{close_quotes} in his daughter?

  16. Guo Afr J Tradit Complement Altern Med. (2014) 11(2):411-414

    African Journals Online (AJOL)

    cadewumi

    The objective is to study the extraction process of garlic oil and its antibacterial effects. Materials and Methods: CO2 Supercritical extraction was used to investigate the optimal processing conditions for garlic oil extraction; filter paper test and suspension dilution test were applied to determine the bacteriostatic action of ...

  17. Nwidu et al., Afr J Tradit Complement Altern Med. (2014) 11(2):257 ...

    African Journals Online (AJOL)

    cadewumi

    ... semi-preparative HPLC, and the structures established by NMR (Nwidu et al., 2012b). ... fingerprint of the ESE, preliminary phyto-chemical screening, elemental and ..... Prostaglandins and serotonin: Non-peptide diarrheagenic hormones.

  18. Hammouda et al., Afr J Tradit Complement Altern Med. (2013) 11(2 ...

    African Journals Online (AJOL)

    cadewumi

    2Department of Chemistry, Texas Southern University, 3100 Cleburne Ave, Houston, TX 77004, USA. ... (28%), whereas SFE gave the highest percentage of anethol (72%). ... appetizing, as digestive aid, liqueurs, bread, cheese and an ingredient of ... In the essential oil of sweet fennel, the fenchone content usually does not ...

  19. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure

    DEFF Research Database (Denmark)

    Martin-Brevet, Sandra; Rodríguez-Herreros, Borja; Nielsen, Jared A

    2018-01-01

    and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria....

  20. Zhang et al., Afr J Tradit Complement Altern Med. (2014) 11(2):377 ...

    African Journals Online (AJOL)

    cadewumi

    Background: The Third Month Fair in Dali is a historical festival and fair. ... drawn people's attention owing to its congenital advantages such as fewer side effects and .... of local rhizotomists possessed obvious regional feature and study value.

  1. Molecular Mechanisms and Diagnosis of Chromosome 22q11.2 Rearrangements

    Science.gov (United States)

    Emanuel, Beverly S.

    2008-01-01

    Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster…

  2. Experimental study of the πh11/2 band in 113 Sb

    Indian Academy of Sciences (India)

    States only up to 59/2− were observed in the = 2 band. Mean lifetimes for the five states (from 4460 to 7998 keV) were measured for the first time using Doppler shift attenuation method. An upper limit of the lifetime (0.14 ps) was estimated for the 9061 keV, 47/2− state. The (2) values, derived from the present lifetime ...

  3. Leylabadlo et al., Afr., J. Infect. Dis. (2017) 11 (2): 39-53 https://doi ...

    African Journals Online (AJOL)

    hamed

    In another study from pediatric patients for ESBL genes, about 30.5% ..... previous studies from Taiwan and Mexico, it has been reported that blaSHV and ...... and enhanced expression of genes for efflux pumps in Shigella flexneri and.

  4. Ma et al., Afr J Tradit Complement Altern Med. (2014) 11(2):301-314

    African Journals Online (AJOL)

    cadewumi

    Table 1: TUPM approved by CFDA (By therapy through ranking). Therapeutic area. Local Uighur ... Near mature fruits ... Yangxindawayi mixikemi. Unguent. Soft. Extract. Y. Flos Anchusae. Verbenaceae, Callicarpa ... Native gold. Argentum Foil.

  5. 11.2 YIP Human In the Loop Statistical RelationalLearners

    Science.gov (United States)

    2017-10-23

    variety of top-tier conferences and journals including International Conference on AI (AAAI), International Conference on Data Mining (ICDM...on Data Mining (ICDM) Conference Location: Atlantic City, NJ, USA Paper Title: Transfer Learning via Relational Type Matching Publication Status: 1...complex tasks such as natural language processing for extracting adverse drugs events from text [5]. First we will describe the advice-based methods that

  6. Zhang et al., Afr J Tradit Complement Altern Med. (2014) 11(2):367 ...

    African Journals Online (AJOL)

    cadewumi

    Ninjurin2 (Ninj2), firstly reported in 2000, is a homolog of a homophilic cellular adhesion molecule, which mediates cell-to-cell and cell-to-extracellular matrix interaction during development, differentiation and regeneration of nervous system (Araki and Milbrandt, 2000; Lin et al., 2011). Ninj2 was also reported to be a ...

  7. Gutierrez et al., Afr J Tradit Complement Altern Med. (2014) 11(2 ...

    African Journals Online (AJOL)

    cadewumi

    Since pre-Hispanic times it has been used as medicine, reports on ... acclimatized for a period of three days in their new environment before the ... Sections of 5:00µm, were processed for insulin-releasing activity using an irnmunocytochemistry kit. .... with glucose and glyceraldehyde, respectively, to experimental media.

  8. Psychiatric Disorders and Intellectual Functioning throughout Development in Velocardiofacial (22q11.2 Deletion) Syndrome

    Science.gov (United States)

    Green, Tamar; Gothelf, Doron; Glaser, Bronwyn; Debbane, Martin; Frisch, Amos; Kotler, Moshe; Weizman, Abraham; Eliez, Stephan

    2009-01-01

    Objective: Velocardiofacial syndrome (VCFS) is associated with cognitive deficits and high rates of schizophrenia and other neuropsychiatric disorders. We report the data from two large cohorts of individuals with VCFS from Israel and Western Europe to characterize the neuropsychiatric phenotype from childhood to adulthood in a large sample.…

  9. Tsai et al., Afr J Tradit Complement Altern Med. (2014) 11(2):343 ...

    African Journals Online (AJOL)

    cadewumi

    to explore CM uses and CM non-users by patients with colorectal cancer (CRC). .... included four geographic regions (northern, central, southern and eastern) and three .... New technologies have improved the survival rate for CRC, but CRC ...

  10. Malangu Afr J Tradit Complement Altern Med. (2014) 11(2):425-438

    African Journals Online (AJOL)

    cadewumi

    2010-01-27

    Jan 27, 2010 ... Exposure to poisonous products occurred mainly through ingestion, ..... Figure 7: Acute poisoning case fatality rate in the three countries ..... the management of poisoning incidents should include an assessment by a clinical psychologist or psychiatrist. .... Pyenson, L.R., Cove, L.A., Brickfield, F.X. (1998).

  11. Adeneye et al., Afr J Tradit Complement Altern Med. (2014) 11(2 ...

    African Journals Online (AJOL)

    cadewumi

    42.4% of those with arthritis) had arthritis-attributable-to-activity-limitation (AAAL) and with an aging population this figure is expected to rise. (Woolf and Pfleger ... West Africa where decoctions made from its pulverized leaves are used for the local treatment of rheumatic pains, fever, wounds and diarrhea. (Ogungbamila and ...

  12. Common variant at 16p11.2 conferring risk of psychosis

    DEFF Research Database (Denmark)

    Steinberg, S; de Jong, S; Mattheisen, M

    2014-01-01

    Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide si...... (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders)....

  13. Oriola et al., Afr J Tradit Complement Altern Med. (2014) 11(2):319 ...

    African Journals Online (AJOL)

    cadewumi

    Spectroscopy, with 1H NMR at 300 MHz and 13C NMR at 75 MHz, TMS, and a Centroid ESI-Mass Spectrometer for molecular mass determination. Column chromatography (CC) was performed ..... Effect of Two Common Nigerian Chewing sticks on Gingival Health and. Oral Hygiene. Odonto-Stomatologie Tropicale 87 (12): ...

  14. Swamy et al., Afr J Tradit Complement Altern Med. (2014) 11(2):458 ...

    African Journals Online (AJOL)

    cadewumi

    Materials and Methods: Male Sprague-Dawley rats were divided into four groups; ... induction of heat sensitive proteins in hippocampus and cortical regions of rodent ..... induce mitochondrial Ca2+overload and ROS generation in spinal motor.

  15. Infrared diode-laser measurements of some atomic helium (4He I 1s nl) fine-structure transitions: comment

    International Nuclear Information System (INIS)

    Kono, A.

    1987-01-01

    Five recently measured 4 He I transitions involving nS, nP, and nD levels (n = 3--8, Δn = 0,2) are compared with theoretical energy levels having estimated uncertainties that are comparable with those of the experimental results (--10 -3 cm -1 ) [T.J. Sears S. C. Foster, and A. R. W. McKellar, J. Opt. Soc. Am. B3, 1037 (1986)]. The agreement between theory and experiment is generally good, but considerable discrepancy exists for one transition

  16. Metalogenic study of the uraniferous ore deposit at La Coma, Municipio of General Bravo, N.L. Mexico

    International Nuclear Information System (INIS)

    Ferriz D, H.

    1977-01-01

    The uraniferous ore deposit at la Coma is located in a sandy-clayish sequence of the cold formation (non marine member) of the middle oligocene under peneconcordant lenses within a sandy body, situated on the North flank of a microdelta formed by small streams which ran from West to East. The metalogenic study of this ore deposit, permits us to establish mineralization controls and guides for the optimization of the uranium prospecting in the miogeoclinical of the Gulf of Mexico setting. The study was carried out on the basis of sedimentalogic and metalogenic criteria, and it was found that the mineralization process seems to be related to the formation and filling of a paleochannel which cut the microdelta permeable beds. The uraniferous solutions migrated through the conglomeratic filling of the paleochannel and reached this way the permeable horizons of the microdelta, where they infiltrated adopting a pattern like an apron. In the sites where the solutions reached sandy lenses rich in organic matter, the soluble compounds containing the uranium suffered a decomposition with the consequent absorption of the uranium by the organic matter, due to the decrease of the pH value. In conclusion, the favorableness of the environment for mineralization is defined by the convergence of the described paleo-geomorphologic elements. (author)

  17. Adherence to the WHO's Healthy Diet Indicator and Overall Cancer Risk in the EPIC-NL Cohort

    NARCIS (Netherlands)

    Berentzen, N.E.; Beulens, J.W.; Hoevenaar-Blom, M.P.; Kampman, E.; Bueno-de-Mesquita, H.B.; Romaguera-Bosch, D.; Peeters, P.H.M.; May, A.M.

    2013-01-01

    Background: A healthy dietary pattern defined by international recommendations of the World Health Organisation (WHO) has been shown to reduce overall mortality risk. It is unknown whether this healthy dietary pattern is associated with overall cancer incidence. Design: In total 35,355 men and women

  18. NL-Netherlands: No permit required for Fox Entertainment Group’s Acquisition of Dutch Soccer Broadcasting Rights

    NARCIS (Netherlands)

    Breemen, K.

    2013-01-01

    On 29 November 2012, the Raad van Bestuur (Board of Directors) of the Nederlandse Mededingingsautoriteit (Competition Authority - NMa) decided that the acquisition of Eredivisie Media & Marketing (EMM), exploiter of the Dutch premier league soccer broadcasting rights on behalf of the top league

  19. Training Spiritual Care in Palliative Care in Teaching Hospitals in the Netherlands (SPIRIT-NL) : A Multicentre Trial

    NARCIS (Netherlands)

    Geer, Joep van de; Zock, Tanja; Leget, Carlo; Veeger, Nic; Prins, Jelle; de Groot, Marieke; Vissers, Kris

    Background: In the Netherlands, the spiritual dimension in healthcare became marginal in the second part of the twentieth century. In the Dutch healthcare sys- tem, palliative care is not a medical specialization and teaching hospitals do not have specialist palliative care units with specialized

  20. A clinical prediction rule for detecting major depressive disorder in primary care : the PREDICT-NL study

    NARCIS (Netherlands)

    Zuithoff, Nicolaas P A; Vergouwe, Yvonne; King, Michael; Nazareth, Irwin; Hak, Eelko; Moons, Karel G M; Geerlings, Mirjam I

    BACKGROUND: Major depressive disorder often remains unrecognized in primary care. OBJECTIVE: Development of a clinical prediction rule using easily obtainable predictors for major depressive disorder in primary care patients. METHODS: A total of 1046 subjects, aged 18-65 years, were included from

  1. A clinical prediction rule for detecting major depressive disorder in primary care: the PREDICT-NL study.

    Science.gov (United States)

    Zuithoff, Nicolaas P A; Vergouwe, Yvonne; King, Michael; Nazareth, Irwin; Hak, Eelko; Moons, Karel G M; Geerlings, Mirjam I

    2009-08-01

    Major depressive disorder often remains unrecognized in primary care. Development of a clinical prediction rule using easily obtainable predictors for major depressive disorder in primary care patients. A total of 1046 subjects, aged 18-65 years, were included from seven large general practices in the center of The Netherlands. All subjects were recruited in the general practice waiting room, irrespective of their presenting complaint. Major depressive disorder according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Text Revision edition criteria was assessed with the Composite International Diagnostic Interview. Candidate predictors were gender, age, educational level, being single, number of presented complaints, presence of non-somatic complaints, whether a diagnosis was assigned, consultation rate in past 12 months, presentation of depressive complaints or prescription of antidepressants in past 12 months, number of life events in past 6 months and any history of depression. The first multivariable logistic regression model including only predictors that require no confronting depression-related questions had a reasonable degree of discrimination (area under the receiver operating characteristic curve or concordance-statistic (c-statistic) = 0.71; 95% Confidence Interval (CI): 0.67-0.76). Addition of three simple though more depression-related predictors, number of life events and history of depression, significantly increased the c-statistic to 0.80 (95% CI: 0.76-0.83). After transforming this second model to an easily to use risk score, the lowest risk category (sum score depression, which increased to 49% in the highest category (sum score > or = 30). A clinical prediction rule allows GPs to identify patients-irrespective of their complaints-in whom diagnostic workup for major depressive disorder is indicated.

  2. Parental and professional assessment of early child development: The ASQ-3 and the Bayley-III-NL

    NARCIS (Netherlands)

    Steenis, Leonie J.p.; Verhoeven, Marjolein; Hessen, Dave J.; Van Baar, Anneloes L.

    2015-01-01

    Background The Ages and Stages Questionnaire (ASQ-3) is frequently used for screening developmental delay in problem solving, communication, fine- and gross motor skills and personal-social behavior of infants, toddlers and preschool aged children. The adequacy of the ASQ-3 is evaluated for Dutch

  3. Integrated Heat, Air and Moisture Modeling and Simulation in Hamlab, Reference: A41-T3-NL-05-2

    NARCIS (Netherlands)

    Schijndel, van A.W.M.

    2005-01-01

    This paper gives an overview of recent developments and results of a new integrated heat, air and moisture (HAM) modeling toolkit in Matlab named HAMLab. The recent developments include integration of a whole building model with building systems and controllers, 2D/3D HAM transport in constructions

  4. Who believed in a second industrial revolution? The 'age of computers and automation' in popular media in NL and elsewhere

    NARCIS (Netherlands)

    D. van Lente (Dick)

    2013-01-01

    markdownabstract__Intro__ This paper is about a new project I have just started. So far, I have mainly worked with Dutch sources, but this is such an international subject that I’d like to broaden the project, preferably in some kind of collaboration. So the whole setup is up for discussion; and

  5. Radio Frequency Performance Prediction in the North Sea: Analysis of the U.S.-NL Phase 1 Campaign

    Science.gov (United States)

    2016-09-01

    Vaisala Rohde & Schwarz® spectrum analyzer is a registered trademark of Rohde & Schwarz AI Page Tecom 201822 is a registered trademark of Tecom... Forecasting EDH Evaporation Duct Height ERP Effective Radiated Power EW Electronic Warfare FoV Field of View FRISC Fast Raiding Interceptor and...43 5.4.1 RF Predictions and Observations - NWP Forecasts ...............................................47 5.4.2 RF Predictions

  6. Territorial cohesion through cross-border landscape policy? The European case of the Three Countries park (BE-NL-DE)

    NARCIS (Netherlands)

    Brüll, A.; Wirth, T.M.; Lohrberg, F.; Kempenaar, Annet; Brinkhuijsen, M.; Godart, M.F.; Coppens, A.; Nielsen, M.

    2017-01-01

    Landscapes can be understood as socialecological systems under constant change. In Europe various territorial dynamics pose persistent challenges to maintaining diverse landscapes both as European heritage and in their capacity to provide vital functions and services. Concurrently, under the

  7. Primary standards for measuring flow rates from 100 nl/min to 1 ml/min - gravimetric principle.

    Science.gov (United States)

    Bissig, Hugo; Petter, Harm Tido; Lucas, Peter; Batista, Elsa; Filipe, Eduarda; Almeida, Nelson; Ribeiro, Luis Filipe; Gala, João; Martins, Rui; Savanier, Benoit; Ogheard, Florestan; Niemann, Anders Koustrup; Lötters, Joost; Sparreboom, Wouter

    2015-08-01

    Microflow and nanoflow rate calibrations are important in several applications such as liquid chromatography, (scaled-down) process technology, and special health-care applications. However, traceability in the microflow and nanoflow range does not go below 16 μl/min in Europe. Furthermore, the European metrology organization EURAMET did not yet validate this traceability by means of an intercomparison between different National Metrology Institutes (NMIs). The NMIs METAS, Centre Technique des Industries Aérauliques et Thermiques, IPQ, Danish Technological Institute, and VSL have therefore developed and validated primary standards to cover the flow rate range from 0.1 μl/min to at least 1 ml/min. In this article, we describe the different designs and methods of the primary standards of the gravimetric principle and the results obtained at the intercomparison for the upper flow rate range for the various NMIs and Bronkhorst High-Tech, the manufacturer of the transfer standards used.

  8. Pazarda Rekabetçi Üstünlük Aracı Olarak Hedef Maliyetleme

    OpenAIRE

    AKSOYLU, Semra; DURSUN, Yunus

    2001-01-01

    Günümüz işletmeleri hızla değişen bir çevrede faaliyetlerini sürdürmektedir. Bir işletmenin böylesi bir çevrede varlığını sürdürmesi ve büyümesi, diğerfaktörlerin yanında, hedef pazarının beklediği fiyat ve kalitede özgün ve yeni ürünleri üretme ve pazara sunma kapasitesine bağlıdır. Hedef pazarın kalite ve fiyatbeklentisini karşılayan ürünleri üretmek ve pazara sunmak için kullanılan araçlardan birisi de hedef maliyetleme yöntemidir. Bu yöntem, günümüzün rekabetçi çevresinde işletmenin rekab...

  9. Territorial cohesion through cross-border landscape policy? The European case of the Three Countries Park (BE-NL-DE

    Directory of Open Access Journals (Sweden)

    Brüll Anja

    2017-10-01

    Full Text Available Landscapes can be understood as socialecological systems under constant change. In Europe various territorial dynamics pose persistent challenges to maintaining diverse landscapes both as European heritage and in their capacity to provide vital functions and services. Concurrently, under the competence of cohesion policy, the EU is attempting to improve policy making by better policy coordination and respecting regional specifics. This paper explores the question how a policy dedicated to landscape can help to handle territorial change and support territorial cohesion. It presents results and performances of the ESPON applied research study LP3LP: (1 a common landscape policy for the Three Countries Park, across the Dutch, German and Belgium borders, including a spatial landscape vision, a governance proposal of adaptive landscape management, and thematic strategies dealing with green infrastructure, cultural heritage, complementary biomass and quality production; (2 recommendations at the EU level. In discussing the significance of a landscape approach for EU policy,three dimensions of landscape are linked withimportant aspects of territorial cohesion: ‘landscape as asset’ addressing natural-cultural territorial capital as an indigenous base forsmart, sustainable, and inclusivedevelopment;‘landscape as place’ stressing the relevance of landscape for place-based policies; and ‘landscape as common ground’ highlighting its potential for horizontal, vertical, and territorial integration.

  10. Breaking down "Healthism": Barriers to Health and Fitness as Identified by Immigrant Youth in St. John's, NL, Canada

    Science.gov (United States)

    Shea, Jennifer M.; Beausoleil, Natalie

    2012-01-01

    In this article, we challenge dominant health and fitness discourses which stress individual responsibility in the attainment of these statuses. We examine the results of an empirical study exploring how a group of 15 Canadian immigrant youth, aged 12-17, discursively construct notions of health and fitness. Qualitative data were collected through…

  11. The development of divertor and first wall armour parts at JAERI, Sandia N.L. and KFA Juelich

    International Nuclear Information System (INIS)

    Akiba, M.; Bolt, H.; Watson, R.; Kneringer, G.; Linke, J.

    1991-01-01

    The development of new armour materials, and fabrication and testings of the divertor and first wall mock-ups have worldwidely been carried out during the Conceptual Design Activites (CDA) of ITER. This paper is a review of the activities on the divertor and first wall armour components which has been performed by JAERI, Sandia National Laboratory, and KFA Juelich. The design requirements have instantly been reflected in material development. For instance, carbon fiber composites (CFCs) have already been developed to have a thermal conductivity as high as copper at room temperature. Further modification of CFC's has been made. Based on the extensive progress in armour materials, the fabrication and testings of mock-ups have been started. Divertor mock-ups which are able to endure a stationary heat flux of 8 to 15 MW/m 2 have already been developed. Some new high heat flux test facilities have been constructed and are able to simulate a heat load of plasma disruption. Extensive understanding on disruption erosion of the armour materials has been obtained by experiments with these facilities. Some mock-up tests and disruption simulating tests have been performed under international collaboration. (orig.)

  12. Fortsat tuberkuloseproblemer blandt danskere og grønlændere i Danmark og behov for styrket kontrol

    DEFF Research Database (Denmark)

    Lillebæk, Troels; Andersen, Ase Bengård; Seersholm, Niels Jørgen

    2012-01-01

    Active transmission of Mycobacterium tuberculosis (Mt) continues at surprisingly high rates in Denmark. The transmission is particularly observed in specific high risk segments of the population with social problems such as homelessness, alcohol, and/or drug abuse. The patients are infected...

  13. Een onderzoek naar verschillen in fourageeractiviteit tussen Visdief Sterna hirundo en Noordse Stern Sterna paradisaea op de Engelsmanplaat (NL)

    NARCIS (Netherlands)

    Mes, Ron; Schuckard, Rot

    1976-01-01

    The foraging activity of Common Tern Sterna hirundo and Arctic Tern Sterna paradisaea was studied on the low sandy island of Engelsmanplaat in the Dutch Waddensea area (53°28’N – 06°30’E). The foraging activity was measured by counting birds carrying food to the colony and birds flying towards the

  14. Proceedings of the International Symposium on Frozen Soil Impacts on Agricultural, Range, and Forest Lands Held at Spokane, Washington on March 21-22, 1990

    Science.gov (United States)

    1990-03-01

    the United States. The soils were: a Cecil sandy loam (clayey, kaolinitic, thermic Typic Hapludult) from Watkinsville, GA ; a Barnes loam (fine loamy...1987). GLEAMS user manual. Lab Note South East Watershed Research Laboratory 110 187 WGK, Tifton , Ge, 1987. Lane, L.J., and V. A. Ferreira, (1980...as caps for processed uranium mill tailings in the western United States. The purpose of these barriers is to control radon gas release. The soil

  15. A thick homogeneous vegetated cover design proves cost - and schedule-effective for the reclamation of uranium mills sites near Spokane, Washington

    Energy Technology Data Exchange (ETDEWEB)

    Blacklaw, J.; Robertson, G.; Stoffel, D.; Ahmad, J.; Fordham, E. [Washington State Dept. of Health, Olympia, WA (United States)] [and others

    1997-08-01

    The Washington State Department of Health (WDOH) has licensed two medium sized uranium mills with tailings impoundments covering 28 and 40 hectares (70 and 100 acres), respectively, The uranium mill licensees have submitted closure and reclamation plans to the state, and site-specific conditions have determined the closure design features, Conventional uranium mill cover designs usually incorporate an overall cap of one to three meters, which includes a low-permeability clay barrier layer. A technical evaluation of several uranium mill facilities that used this design was published in the fall of 1994 and reported that unexpected vegetation root damage had occurred in the low-permeability clay (or bentonite amended) barrier layers. The technical report suggested that the low-permeability design feature at some sites could be compromised within a very short time and the regulatory goal of 1,000 years performance might not be achieved. In October 1994, WDOH sponsored a technical forum meeting to consider design alternatives to address these reliability concerns. Representatives from the federal government, nuclear industry, licensees, engineering firms, and state regulatory agencies attended the workshop. Risk factors considered in the evaluation of the uranium mill reclamation plans include: (1) radon gas emanation through the cover (the air pathway), and (2) migration of hazardous and/or radioactive constituents (the groundwater pathway). Additional design considerations include site structural stability, longevity of 1,000 years, and no active (ongoing) maintenance. 9 refs.

  16. Dutch experiment in co-creation in a collectively commissioned housing project

    NARCIS (Netherlands)

    Veeger, T.T.; Maussen, S.J.E.; Couceiro da Costa, M.J.R.; Roseta, F.; Pestana Lages, J.; Couceiro da Costa, S.

    2017-01-01

    Only a small percentage of the new homes built in the Netherlands in the last decades have been built by private commissioning (11.2 % in 2012, www.statline.cbs.nl). The major players in the Dutch housing market are the commercial developers and the social housing corporations, the latter focuses

  17. Engineering and Environmental Study of DDT Contamination of Huntsville Spring Branch, Indian Creek and Adjacent Lands and Waters, Wheeler Reservoir, Alabama. Revision,

    Science.gov (United States)

    1984-04-01

    pauciflora FAMILY ALABAMA STATUS^ FEDERAL STATUS? Liliacear E3 NL Araliaceae E NL Resaceae E NL Cyperaceae T NL Liliaceae T NL Brassicaceae T NL...Berberidaceae SSC NL Fabaceae SSC NL Oxalidaceae SSC NL Ranunculaceae SSC NL Ranunculaceae SSC NL Scrophulariaceae SSC NL Valerianaceae SSC NL 1...dispersing into small groups of nuclear families to exploit the uplands. Later, during the Woodland period, the River settlement zone continued to be the

  18. On the relationship between {11(2)over-bar2} and {11(2)over-bar6} conjugate twins and double extension twins in rolled pure Mg

    Czech Academy of Sciences Publication Activity Database

    Ostapovets, Andriy; Buršík, Jiří; Krahula, Karel; Král, Lubomír; Serra, A.

    2017-01-01

    Roč. 97, č. 14 (2017), s. 1088-1101 ISSN 1478-6435 R&D Projects: GA MŠk(CZ) LQ1601; GA ČR(CZ) GA16-14599S Institutional support: RVO:68081723 Keywords : Magnesium * twinning * grain boudaries Subject RIV: BM - Solid Matter Physics ; Magnetism OBOR OECD: Condensed matter physics (including formerly solid state physics, supercond.) Impact factor: 1.505, year: 2016

  19. De novo inv(17)(p11.2q21.3) in an intellectually disabled girl ...

    Indian Academy of Sciences (India)

    2012-08-09

    Aug 9, 2012 ... LUIS E. FIGUERA1 and HORACIO RIVERA1,2∗. 1División de ... an uneven number of meiotic crossovers within the inversion results in a recom- ... cence Olympus AX70 microscope (Olympus Optical, Tokyo,. Japan) fitted with ...

  20. Ifeorah et al., Afr., J. Infect. Dis. (2017) 11 (2): 31-38 https://doi.org ...

    African Journals Online (AJOL)

    HP USER

    Background: The World Health Organization (WHO) considers early and rapid diagnosis as one of the strategies to control malaria. This study compared the performance of Quantitative Buffy Coat (QBC) test and the Plasmodium lactate dehydrogenase (pLDH) rapid diagnostic test (RDT) with microscopy as the gold ...

  1. Developmental trajectories of fronto-executive functions in 22q11.2 deletion syndrome: A preliminary study

    LENUS (Irish Health Repository)

    Howley, S A

    2011-01-01

    22qll.2 deletion syndrome (22qllDS) is associated with borderline-mild intellectual disability and specific neurocognitive deficits, particularly in prefrontally-mediated executive functions (EF). There is evidence for white matter abnormalities in frontal cortical regions in 22qllDS, however little is known about the development of EF across the age range. Forty-eight individuals with 22qllDS were divided into 3 age groups: Child (7 male; n = 16; 6–11 years; M (SD) age = 8.4 (1.7); mean FSIQ = 72.9); Adolescent (7 male; n = 15; 12–15 years; M (SD) age = 13.1 (0.8); mean FSIQ = 68.0) and Adult (7 male; n = 17; 16–45 years; M (SD) age = 28.8 (11.5); mean FSIQ = 69.6). Forty healthy controls were also recruited and divided into the same 3 age groups: Child (6 male; 6–11 years, n = 12; M (SD) age = 9.3 (1.7); mean FSIQ = 99.1); Adolescent (6 male; 12–15 years; n = 12; M (SD) age = 13.2 (1.1); mean FSIQ = 100.9) and Adult (6 male; 16–45 years; n = 16; M (SD) age = 28.8 (9.4); mean FSIQ = 109). All participants completed standardised tests of a range of executive functions, specifically working memory, planning, problem-solving, strategy formation, cognitive flexibility and inhibition, and cross-sectional developmental trajectories of each function were constructed. No age-mediated improvements on EF tasks were observed in the 22qllDS groups, with the exception of verbal working memory. The control group exhibited significant age-mediated improvements in working memory, strategy formation and planning efficiency. These findings support the hypothesis that 22qllDS individuals experience atypical development of neuroanatomical regions and networks associated with EF in typical individuals. Future longitudinal work is required to examine intra-individual development of executive and non-executive cognitive processes.

  2. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

    DEFF Research Database (Denmark)

    Børglum, Anders; Balslev, Thomas; Haagerup, Annette

    2001-01-01

    Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous fa...

  3. Olaniyi et al., Afr., J. Infect. Dis. (2017) 11 (2): 17-23 https://doi.org ...

    African Journals Online (AJOL)

    ... that HIV information providers and health workers in South Africa pay more attention to .... discrimination in five African countries including South Africa. ... determine cause and effects at the same time, measuring the attitudes of the ... and 200 most completed questionnaires were selected for analysis. ... Statistical analysis.

  4. Somda et al., Afr., J. Infect. Dis. (2017) 11 (2): 24-30 https://doi.org ...

    African Journals Online (AJOL)

    Invité

    All strains were subjected to a set of 14 antibiotics to study their antibiogram by ... Salmonella species are leading causes of acute gastroenteritis in .... The multiresistant is defined as the resistance to at least three different antibiotics family.

  5. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

    Energy Technology Data Exchange (ETDEWEB)

    Greger, V.; Knoll, J.H.M.; Wagstaff, J.; Lalande, M. [and others

    1997-03-01

    Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.

  6. Pollution prevention/waste minimization program 1998 fiscal year work plan - WBS 1.11.2.1

    International Nuclear Information System (INIS)

    Howald, S.C.; Merry, D.S.

    1997-09-01

    Pollution Prevention/Waste Minimization (P2/WMin) is the Department of Energy's preferred approach to environmental management. The P2/WMin mission is to eliminate or minimize waste generation, pollutant releases to the environment, use of toxic substances, and to conserve resources by implementing cost-effective pollution prevention technologies, practices, and polices

  7. Electrokinetic characteristics fused quartz in solutions of 1:1, 2:1 and 3:1 charge electrolytes

    International Nuclear Information System (INIS)

    Bogdanova, N.F.; Sidorova, M.P.; Ermakova, L.Eh.; Savina, I.A.

    1997-01-01

    Electrokinetic characteristics of silicon oxide have been studied using a model system - a plane-parallel capillary in chloride solutions containing mono-(H + , Na + , Cs + ), two-(Ba 2+ ) and three-(La 3+ ) charge counterions in a wide range of pH and concentrations. It has been revealed that isoelectric point (IEP) of silicon oxide studied coincides with the one usually quoted in literature and corresponds to pH2 in the absence of specific adsorption. Specific adsorption of cesium ions resulting in IEP displacement to pH 3.3 at the back-ground of 0.1M CsCl solution has been detected. Specific adsorption of lanthanum ions increases with increase in the surface charge, involving appearance of a positive electrokinetic potential range at pH>3.3 at the background of 0.1g-eq/l LaCl 3 solution

  8. Application of Simulation to Individualized Self-Paced Training. Final Report. TAEG Report No. 11-2.

    Science.gov (United States)

    Lindahl, William H.; Gardner, James H.

    Computer simulation is recognized as a valuable systems analysis research tool which enables the detailed examination, evaluation, and manipulation, under stated conditions, of a system without direct action on the system. This technique provides management with quantitative data on system performance and capabilities which can be used to compare…

  9. Psychometric properties of the Dutch version of the Orofacial Esthetic Scale (OES-NL) in dental patients with and without self-reported tooth wear

    NARCIS (Netherlands)

    Wetselaar, P.; Koutris, M.; Visscher, C.M.; Larsson, P.; John, M.T.; Lobbezoo, F.

    2015-01-01

    The aim of this study was to test the psychometric properties of the Dutch version of the Orofacial Esthetic Scale (OES) in dental patients with and without self-reported tooth wear. The English version of the OES was translated into Dutch, following established guidelines for cross-cultural

  10. The important role of CRIS’s for registration and archiving of research data. The RDS-Project at Radboud University (NL) in cooperation with DANS.

    NARCIS (Netherlands)

    Simons, Ed; Jetten, Mijke; van Berchum, M.; Messelink, Maaike; Schoonbrood, Hans; Wittenberg, M.

    2016-01-01

    Optimal research data management and archiving is a key condition for progress in modern science and of vital importance from both the point of view of research as such as well as research policy and management. More specifically it is a conditio sine qua non for the realisation of Open Science and

  11. Draft of the EU regulation for the infrastructure for alternate fuels. Impact assessment for the Netherlands; Concept EU Richtlijn Uitrol Infrastructuur voor Alternatieve Brandstoffen. Impact Assessment voor NL

    Energy Technology Data Exchange (ETDEWEB)

    Weeda, M. [ECN Beleidsstudies, Petten (Netherlands)

    2013-08-15

    On 24 January 2013, the European Commission approved a proposal for a directive on the rollout of infrastructure for alternative fuels for transport. The directive mostly covers the charging infrastructure for electric vehicles; CNG, LNG and hydrogen refuelling stations for road traffic, and LNG bunker facilities for shipping. On assignment of the Dutch Ministry of Infrastructure and the Environment, ECN conducted an impact assessment of the proposal for the directive for the Dutch situation. The overall conclusion is that the estimates for the Netherlands in the framework of the directive with regard to the required infrastructure for alternative fuels and the investment amount reasonably concur with the government's objectives and the expectations of market parties. Given all uncertainties about numbers and exact costs, the conclusion is drawn that, until the end of 2020, an amount of about Meuro 400 will be needed for investments in the infrastructure for alternative fuels. However, this covers only a part of the investments related to the directive. To realise the objectives, applications for alternative fuels will need to be stimulated and the financial gap in exploiting infrastructures also needs to be financed. As it is difficult to determine beforehand which costs are involved, it is important to maintain flexibility in objectives for volume and realisation pace of the infrastructure for alternative fuels. In this respect, a result obligation to realise a certain volume of infrastructure before a set date, as envisaged by the directive, is not beneficial [Dutch] Op 24 januari 2013 heeft de Europese Commissie een voorstel voor een richtlijn goedgekeurd betreffende de uitrol van infrastructuur voor alternatieve brandstoffen voor transport. De richtlijn heeft vooral betrekking op oplaadinfrastructuur voor elektrische auto's; CNG, LNG en waterstoftankstations voor wegverkeer, en LNG bunkerfaciliteiten voor de scheepvaart. ECN heeft in opdracht van het Ministerie van Infrastructuur en Milieu een impact assessment gemaakt van het voorstel voor de richtlijn voor de Nederlandse situatie. Overall is de conclusie dat de inschattingen voor Nederland in het kader van de richtlijn over omvang van benodigde infrastructuur voor alternatieve brandstoffen en de hoogte van de investeringskosten redelijk goed overeenkomen met overheidsdoelstellingen en verwachtingen van marktpartijen hierover. Gegeven alle onzekerheden over aantallen en exacte kosten wordt geconcludeerd dat tot eind 2020 ordegrootte 400 Meuro nodig is voor investeringen in infrastructuur voor alternatieve brandstoffen. Dit is echter slechts een deel van de investeringen die samenhangen met de richtlijn. Realisatie van doelstellingen vergt ook stimulering van toepassingen voor alternatieve brandstoffen en financiering van de onrendabele top in de exploitatie van infrastructuren. Omdat kosten die hiermee samenhangen lastig op voorhand zijn te bepalen is het van belang om flexibiliteit te behouden in doelstellingen voor omvang en snelheid van realisatie van infrastructuur voor alternatieve brandstoffen. Een resultaatverplichting voor realisatie van een hoeveelheid infrastructuur voor een bepaalde datum zoals beoogd door de richtlijn is in dit opzicht niet gunstig.

  12. The effect of childhood adversity on 4-year outcome in individuals at ultra high risk for psychosis in the Dutch Early Detection Intervention Evaluation (EDIE-NL) Trial

    NARCIS (Netherlands)

    Kraan, Tamar C.; Ising, Helga K.; Fokkema, Marjolein; Velthorst, Eva; van den Berg, David P. G.; Kerkhoven, Margot; Veling, Wim; Smit, Filip; Linszen, Don H.; Nieman, Dorien H.; Wunderink, Lex; Boonstra, Nynke; Klaassen, Rianne M. C.; Dragt, Sara; Rietdijk, Judith; de Haan, Lieuwe; van der Gaag, Mark

    2017-01-01

    Childhood adversity is associated with a range of mental disorders, functional impairment and higher health care costs in adulthood. In this study we evaluated if childhood adversity was predictive of adverse clinical and functional outcomes and health care costs in a sample of patients at

  13. An adenylyl cyclase gene (NlAC9) influences growth and fecundity in the brown planthopper, Nilaparvata lugens (Stål) (Hemiptera: Delphacidae)

    Science.gov (United States)

    The cAMP/PKA intracellular signaling pathway is launched by adenylyl cyclase (AC) conversion of adenosine triphosphate (ATP) to 3', 5'-cyclic AMP (cAMP) and cAMP-dependent activation of PKA. Although this pathway is very well known in insect physiology, there is little to no information on it in som...

  14. The use of English in job advertisments on the Dutch job site Monsterboard.nl and factors on which it depends

    NARCIS (Netherlands)

    Meurs, F. van; Korzilius, H.P.L.M.; Hollander, Adriënne den

    2006-01-01

    Previous studies on the factors that determine the use of English in product advertising and print-medium job advertisements in non-English-speaking countries have overwhelmingly analysed English in product advertising. Drawing on the reasons suggested in such studies, the present contribution

  15. Identification of 5g and 6g terms and revised ionization energies in the Yb II 4f14nl isoelectronic sequence

    International Nuclear Information System (INIS)

    Sugar, J.; Kaufman, V.

    1979-01-01

    The 5f-5g transitions in Lu III through Os VIII and the 5f-6g transitions in Hf IV through W VI were identified and used to redetermine the ionization energies of Yb II, Lu III, W VI, Re VII, and Os VIII. Complete line-lists and energy levels are given for the one-electron spectra Hf IV, W VI and Os VIII

  16. Identification of 5g and 6g terms and revised ionization energies in the Yb II 4f/sup 14/nl isoelectronic sequence

    Energy Technology Data Exchange (ETDEWEB)

    Sugar, J.; Kaufman, V.

    1979-01-01

    The 5f-5g transitions in Lu III through Os VIII and the 5f-6g transitions in Hf IV through W VI were identified and used to redetermine the ionization energies of Yb II, Lu III, W VI, Re VII, and Os VIII. Complete line-lists and energy levels are given for the one-electron spectra Hf IV, W VI and Os VIII.

  17. Advisory Committee Societal and Environmental Aspects Test Wind Farm Oosterbierum. Adviescommissie Maatschappelijke en Milieu-Aspecten Proefwindpark Oosterbierum (NL); Eindrapportage van de onderzoeksresultaten

    Energy Technology Data Exchange (ETDEWEB)

    1992-12-01

    An overview is given of the results of research on the title wind farm. The test wind turbine array consists of 3 rows of six 300 kW horizontal axis turbines, with an axis height of 35 meters, and a rotor diameter of 30 meters. The purpose of the test wind farm was to gain experience with regard to planning aspects, environmental aspects (flora and fauna) and societal acceptation and perception. The title committee (AMMA, abbreviated in Dutch) was installed in 1982 with the purpose to formulate the problems and research proposals, to advise research bureaus and institutes on the sub-studies, and to evaluate the results of the surveys and studies and to assess the possibility of using wind energy within the electric power supply in the Netherlands. All seven sub-studies, started by AMMA, are described briefly: a study on the effects of the wind farm on birds, a study on the effect of the wind farm on traffic, attracted by the wind turbine array, a study on the impact of the wind turbines on the agricultural management, an analysis of the effects on the landscape, a study on the visual perception of the wind turbines, a social-psychological study or the societal acceptation of wind power plants, and a study on the effects of surrounding objects on the wind availability for wind farms. If wind energy must contribute to the Dutch power supply as planned, many energy efficient and profitable wind turbines have to be installed in the Netherlands, excluding the areas which are important for birds or recreational areas. 4 figs., 28 refs.

  18. Rational Design of Bacillus coagulans NL01 l-Arabinose Isomerase and Use of Its F279I Variant in d-Tagatose Production.

    Science.gov (United States)

    Zheng, Zhaojuan; Mei, Wending; Xia, Meijuan; He, Qin; Ouyang, Jia

    2017-06-14

    d-Tagatose is a prospective functional sweetener that can be produced by l-arabinose isomerase (AI) from d-galactose. To improve the activity of AI toward d-galactose, the AI of Bacillus coagulans was rationally designed on the basis of molecular modeling and docking. After alanine scanning and site-saturation mutagenesis, variant F279I that exhibited improved activity toward d-galactose was obtained. The optimal temperature and pH of F279I were determined to be 50 °C and 8.0, respectively. This variant possessed 1.4-fold catalytic efficiency compared with the wild-type (WT) enzyme. The recombinant Escherichia coli overexpressing F279I also showed obvious advantages over the WT in biotransformation. Under optimal conditions, 67.5 and 88.4 g L -1 d-tagatose could be produced from 150 and 250 g L -1 d-galactose, respectively, in 15 h. The biocatalyst constructed in this study presents a promising alternative for large-scale d-tagatose production.

  19. Climatescan.nl: the development of a web-based map application to encourage knowledge-sharing of climate-proofing and urban resilient projects

    NARCIS (Netherlands)

    Tipping, Jonathan; Boogaard, Floris; Jaeger, R.; Duffy, A.; Klomp, T.; Manenschijn, M.

    2015-01-01

    Over recent years, there has been an explosion in the number and diversity of projects undertaken to address urban resilience and climate proofing. Sharing the knowledge gained from these projects demands increasingly innovative and accessible methods. This paper details the outcomes of one such

  20. Development of a web-based register for the Dutch national study on biologicals in JIA : www.ABC-register.nl

    NARCIS (Netherlands)

    Prince, F H M; Ferket, I S; Kamphuis, S.; Armbrust, W; Ten Cate, R; Hoppenreijs, E P A H; Koopman-Keemink, Y; van Rossum, M A J; van Santen-Hoeufft, M; Twilt, M; van Suijlekom-Smit, L W A

    OBJECTIVES: Most clinical studies use paper case record forms (CRFs) to collect data. In the Dutch multi-centre observational study on biologicals we encountered several disadvantages of using the paper CRFs. These are delay in data collection, lack of overview in collected data and difficulties in