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

Science.gov (United States)

Al-Chalabi, Ammar; Lewis, Cathryn M

2011-01-01

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

Fault Analysis and Detection in Microgrids with High PV Penetration

Energy Technology Data Exchange (ETDEWEB)

El Khatib, Mohamed [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Hernandez Alvidrez, Javier [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Ellis, Abraham [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

2017-05-01

In this report we focus on analyzing current-controlled PV inverters behaviour under faults in order to develop fault detection schemes for microgrids with high PV penetration. Inverter model suitable for steady state fault studies is presented and the impact of PV inverters on two protection elements is analyzed. The studied protection elements are superimposed quantities based directional element and negative sequence directional element. Additionally, several non-overcurrent fault detection schemes are discussed in this report for microgrids with high PV penetration. A detailed time-domain simulation study is presented to assess the performance of the presented fault detection schemes under different microgrid modes of operation.

Are high penetrations of commercial cogeneration good for society?

Science.gov (United States)

Keen, Jeremy F.; Apt, Jay

2016-12-01

Low natural gas prices, market reports and evidence from New York State suggest that the number of commercial combined heat and power (CHP) installations in the United States will increase by 2%-9% annually over the next decade. We investigate how increasing commercial CHP penetrations may affect net emissions, the distribution network, and total system energy costs. We constructed an integrated planning and operations model that maximizes owner profit through sizing and operation of CHP on a realistic distribution feeder in New York. We find that a greater penetration of CHP reduces both total system energy costs and network congestion. Commercial buildings often have low and inconsistent heat loads, which can cause low fuel utilization efficiencies, low CHP rates-of-return and diminishing avoided emissions as CHP penetration increases. In the northeast, without policy intervention, a 5% penetration of small commercially owned CHP would increase CO2 emissions by 2% relative to the bulk power grid. Low emission CHP installations can be encouraged with incentives that promote CHP operation only during times of high heat loads. Time-varying rates, such as time-of-day and seasonal rates, are one option and were shown to reduce customer emissions without reducing profits. In contrast, natural gas rate discounts, a common incentive for industrial CHP in some states, can encourage CHP operation during low heat loads and thus increase emissions.

High Penetrated Wind Farm Impacts on the Electricity Price

DEFF Research Database (Denmark)

Haji Bashi, Mazaher; Yousefi, G. R.; Bak, Claus Leth

2016-01-01

of the high penetrated wind farm integration into electricity markets. Then, stochastic programming approach is employed to compare the volume of trades for a typical wind farm in a high and low wind penetrated market. Although increasing price spikes and volatility was reported in the literature......Energy trading policies, intermittency of wind farm output power, low marginal cost of the production, are the key factors that cause the wind farms to be effective on the electricity price. In this paper, the Danish electricity market is studied as a part of Nord Pool. Considering the completely...... fossil fuel free overview in Danish energy policies, and the currently great share of wind power (more than 100% for some hours) in supplying the load, it is an interesting benchmark for the future electricity markets. Negative prices, price spikes, and price volatility are considered as the main effects...

Electricity demand profile with high penetration of heat pumps in Nordic area

DEFF Research Database (Denmark)

Liu, Zhaoxi; Wu, Qiuwei; Nielsen, Arne Hejde

2013-01-01

This paper presents the heat pump (HP) demand profile with high HP penetration in the Nordic area in order to achieve the carbon neutrality power system. The calculation method in the European Standard EN14825 was used to estimate the HP electricity demand profile. The study results show...... there will be high power demand from HPs and the selection of supplemental heating for heat pumps has a big impact on the peak electrical power load of heating. The study in this paper gives an estimate of the scale of the electricity demand with high penetration of heat pumps in the Nordic area....

Assessing high wind energy penetration

International Nuclear Information System (INIS)

Tande, J.O.

1995-01-01

In order to convincingly promote installing wind power capacity as a substantial part of the energy supply system, a set of careful analyses must be undertaken. This paper applies a case study concentrated on assessing the cost/benefit of high wind energy penetration. The case study considers expanding the grid connected wind power capacity in Praia, the capital of Cape Verde. The currently installed 1 MW of wind power is estimated to supply close to 10% of the electric energy consumption in 1996. Increasing the wind energy penetration to a higher level is considered viable as the project settings are close to ideal, including a very capable national utility company, Electra, a conventional power supply system based on imported heavy fuel and gas oil, and favourable wind conditions with an estimated annual average of 9.3 m/s at the hub height of the wind turbines. With the applied case study assumptions, simulations with WINSYS over the lifetime of the assessed wind power investment show that investments up to 4.2 MW are economically viable. The economic optimum is found at 2.4 MW reaching an internal rate of return of almost 8% p.a. This 2.4 MW of wind power would, together with the existing wind power, supply over 30% of the electric consumption in 1996. Applying the recommended practices for estimating the cost of wind energy, the life-cycle cost of this 2.4 MW investment is estimated at a 7% discount rate and a 20 year lifetime to 0.26 DKK/kW h. (Author)

Penetrance and clinical consequences of a gross SDHB deletion in a large family.

Science.gov (United States)

Solis, D C; Burnichon, N; Timmers, H J L M; Raygada, M J; Kozupa, A; Merino, M J; Makey, D; Adams, K T; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

2009-04-01

Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O-methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential.

Penetration of Liquid Jets into a High-velocity Air Stream

Science.gov (United States)

Chelko, Louis J

1950-01-01

Data are presented showing the penetration characteristics of liquid jets directed approximately perpendicular to a high-velocity air stream for jet-nozzle-throat diameters from 0.0135 to 0.0625 inch, air stream densities from 0.0805 to 0.1365 pound per cubic foot, liquid jet velocities from 168.1 to 229.0 feet per second and a liquid jet density of approximately 62 pounds per cubic foot. The data were analyzed and a correlation was developed that permitted the determination of the penetration length of the liquid jet for any operation condition within the range of variables investigated.

Optimal Operation of Plug-In Electric Vehicles in Power Systems with High Wind Power Penetrations

DEFF Research Database (Denmark)

Hu, Weihao; Su, Chi; Chen, Zhe

2013-01-01

in the power systems with high wind power penetrations. In this paper, the integration of plug-in electric vehicles in the power systems with high wind power penetrations is proposed and discussed. Optimal operation strategies of PEV in the spot market are proposed in order to decrease the energy cost for PEV......The Danish power system has a large penetration of wind power. The wind fluctuation causes a high variation in the power generation, which must be balanced by other sources. The battery storage based Plug-In Electric Vehicles (PEV) may be a possible solution to balance the wind power variations...... owners. Furthermore, the application of battery storage based aggregated PEV is analyzed as a regulation services provider in the power system with high wind power penetrations. The western Danish power system where the total share of annual wind power production is more than 27% of the electrical energy...

Pumped storage in systems with very high wind penetration

International Nuclear Information System (INIS)

Tuohy, A.; O'Malley, M.

2011-01-01

This paper examines the operation of the Irish power system with very high levels of wind energy, with and without pumped storage. A unit commitment model which accounts for the uncertainty in wind power is used. It is shown that as wind penetration increases, the optimal operation of storage depends on wind output as well as load. The main benefit from storage is shown to be a decrease in wind curtailment. The economics of the system are examined to find the level at which storage justifies its capital costs and inefficiencies. It is shown that the uncertainty of wind makes the option of storage more attractive. The size of the energy store has an impact on results. At lower levels of installed wind (up to approximately 50% of energy from wind in Ireland), the reduction in curtailment is insufficient to justify building storage. At greater levels of wind, storage reduces curtailment sufficiently to justify the additional capital costs. It can be seen that if storage replaces OCGTs in the plant mix instead of CCGTs, then the level at which it justifies itself is lower. Storage increases the level of carbon emissions at wind penetration below 60%. - Research highlights: → Examines operation of pumped storage unit in a system with levels of wind from 34%-68% of energy. → High capital cost of storage is not justified until system has high (approx. 45%) wind penetration. → Results are driven by the amount of wind curtailment avoided and plant mix of system. → Other flexible options (e.g. interconnection) offer many of the same benefits as storage.

Hydrodynamic analysis and design of high-level radioactive waste disposal model penetrators

International Nuclear Information System (INIS)

Visintini, L.; Mazazzi, R.; Murray, C.N.

1991-01-01

The Commission of the European Communities is studying in the framework of the NEA/OECD Internationally Co-ordinational Seabed Programme the feasibility of using deep ocean sedimentary geological formations as a final disposal medium for vitrified high level waste and fuel elements. At present, two options are being considered for the embedment of such wastes in the sediment column, drilling and free fall penetrators. In the second case, the high level waste would be contained in specially designed drums which would be placed into torpedo-shaped projectiles. These penetrators would then be launched from a semi-submersible platform or ship and allowed to fall freely through the water column (≅ 5 km depth) and to bury themselves within the sediment column. The present article reports some work which has been carried out by the Joint Research Centre, Ispra Establishment on designing large model penetrators for tests at two sites in the North Atlantic

High-Penetration Photovoltaics Standards and Codes Workshop, Denver, Colorado, May 20, 2010: Workshop Proceedings

Energy Technology Data Exchange (ETDEWEB)

Coddington, M.; Kroposki, B.; Basso, T.; Lynn, K.; Herig, C.; Bower, W.

2010-09-01

Effectively interconnecting high-level penetration of photovoltaic (PV) systems requires careful technical attention to ensuring compatibility with electric power systems. Standards, codes, and implementation have been cited as major impediments to widespread use of PV within electric power systems. On May 20, 2010, in Denver, Colorado, the National Renewable Energy Laboratory, in conjunction with the U.S. Department of Energy (DOE) Office of Energy Efficiency and Renewable Energy (EERE), held a workshop to examine the key technical issues and barriers associated with high PV penetration levels with an emphasis on codes and standards. This workshop included building upon results of the High Penetration of Photovoltaic (PV) Systems into the Distribution Grid workshop held in Ontario California on February 24-25, 2009, and upon the stimulating presentations of the diverse stakeholder presentations.

Final Technical Report: Integrated Distribution-Transmission Analysis for Very High Penetration Solar PV

Energy Technology Data Exchange (ETDEWEB)

Palmintier, Bryan [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Hale, Elaine [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Hansen, Timothy M. [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Jones, Wesley [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Biagioni, David [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Baker, Kyri [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Wu, Hongyu [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Giraldez, Julieta [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Sorensen, Harry [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Lunacek, Monte [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Merket, Noel [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Jorgenson, Jennie [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States)); Hodge, Bri-Mathias [NREL (National Renewable Energy Laboratory (NREL), Golden, CO (United States))

2016-01-29

Transmission and distribution simulations have historically been conducted separately, echoing their division in grid operations and planning while avoiding inherent computational challenges. Today, however, rapid growth in distributed energy resources (DERs)--including distributed generation from solar photovoltaics (DGPV)--requires understanding the unprecedented interactions between distribution and transmission. To capture these interactions, especially for high-penetration DGPV scenarios, this research project developed a first-of-its-kind, high performance computer (HPC) based, integrated transmission-distribution tool, the Integrated Grid Modeling System (IGMS). The tool was then used in initial explorations of system-wide operational interactions of high-penetration DGPV.

Genome-wide misexpression of X-linked versus autosomal genes associated with hybrid male sterility.

Science.gov (United States)

Lu, Xuemei; Shapiro, Joshua A; Ting, Chau-Ti; Li, Yan; Li, Chunyan; Xu, Jin; Huang, Huanwei; Cheng, Ya-Jen; Greenberg, Anthony J; Li, Shou-Hsien; Wu, Mao-Lien; Shen, Yang; Wu, Chung-I

2010-08-01

Postmating reproductive isolation is often manifested as hybrid male sterility, for which X-linked genes are overrepresented (the so-called large X effect). In contrast, X-linked genes are significantly under-represented among testis-expressing genes. This seeming contradiction may be germane to the X:autosome imbalance hypothesis on hybrid sterility, in which the X-linked effect is mediated mainly through the misexpression of autosomal genes. In this study, we compared gene expression in fertile and sterile males in the hybrids between two Drosophila species. These hybrid males differ only in a small region of the X chromosome containing the Ods-site homeobox (OdsH) (also known as Odysseus) locus of hybrid sterility. Of genes expressed in the testis, autosomal genes were, indeed, more likely to be misexpressed than X-linked genes under the sterilizing action of OdsH. Since this mechanism of X:autosome interaction is only associated with spermatogenesis, a connection between X:autosome imbalance and the high rate of hybrid male sterility seems plausible.

High Penetration Solar PV Deployment Sunshine State Solar Grid Initiative (SUNGRIN)

Energy Technology Data Exchange (ETDEWEB)

Meeker, Rick [Nhu Energy, Inc., Tallahassee, FL (United States); Florida State Univ., Tallahassee, FL (United States); Steurer, Mischa [Florida State Univ., Tallahassee, FL (United States); Faruque, MD Omar [Florida State Univ., Tallahassee, FL (United States); Langston, James [Florida State Univ., Tallahassee, FL (United States); Schoder, Karl [Florida State Univ., Tallahassee, FL (United States); Ravindra, Harsha [Florida State Univ., Tallahassee, FL (United States); Hariri, Ali [Florida State Univ., Tallahassee, FL (United States); Moaveni, Houtan [New York Power Authority (NYPA), New York (United States); University of Central Florida, Florida Solar Energy Center, Cocoa, FL (Unitied States); Click, Dave [ESA Renewables, LLC, Sanford, FL (United States); University of Central Florida, Florida Solar Energy Center, Cocoa, FL (United States); Reedy, Bob [University of Central Florida, Florida Solar Energy Center, Cocoa, FL (United States)

2015-05-31

The report provides results from the Sunshine State Solar Grid Initiative (SUNGRIN) high penetration solar PV deployment project led by Florida State University’s (FSU) Center for Advanced Power Systems (CAPS). FSU CAPS and industry and university partners have completed a five-year effort aimed at enabling effective integration of high penetration levels of grid-connected solar PV generation. SUNGRIN has made significant contributions in the development of simulation-assisted techniques, tools, insight and understanding associated with solar PV effects on electric power system (EPS) operation and the evaluation of mitigation options for maintaining reliable operation. An important element of the project was the partnership and participation of six major Florida utilities and the Florida Reliability Coordinating Council (FRCC). Utilities provided details and data associated with actual distribution circuits having high-penetration PV to use as case studies. The project also conducted foundational work supporting future investigations of effects at the transmission / bulk power system level. In the final phase of the project, four open-use models with built-in case studies were developed and released, along with synthetic solar PV data sets, and tools and techniques for model reduction and in-depth parametric studies of solar PV impact on distribution circuits. Along with models and data, at least 70 supporting MATLAB functions have been developed and made available, with complete documentation.

AutoSOME: a clustering method for identifying gene expression modules without prior knowledge of cluster number

Directory of Open Access Journals (Sweden)

Cooper James B

2010-03-01

Full Text Available Abstract Background Clustering the information content of large high-dimensional gene expression datasets has widespread application in "omics" biology. Unfortunately, the underlying structure of these natural datasets is often fuzzy, and the computational identification of data clusters generally requires knowledge about cluster number and geometry. Results We integrated strategies from machine learning, cartography, and graph theory into a new informatics method for automatically clustering self-organizing map ensembles of high-dimensional data. Our new method, called AutoSOME, readily identifies discrete and fuzzy data clusters without prior knowledge of cluster number or structure in diverse datasets including whole genome microarray data. Visualization of AutoSOME output using network diagrams and differential heat maps reveals unexpected variation among well-characterized cancer cell lines. Co-expression analysis of data from human embryonic and induced pluripotent stem cells using AutoSOME identifies >3400 up-regulated genes associated with pluripotency, and indicates that a recently identified protein-protein interaction network characterizing pluripotency was underestimated by a factor of four. Conclusions By effectively extracting important information from high-dimensional microarray data without prior knowledge or the need for data filtration, AutoSOME can yield systems-level insights from whole genome microarray expression studies. Due to its generality, this new method should also have practical utility for a variety of data-intensive applications, including the results of deep sequencing experiments. AutoSOME is available for download at http://jimcooperlab.mcdb.ucsb.edu/autosome.

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

NARCIS (Netherlands)

Stitziel, Nathan O.; Fouchier, Sigrid W.; Sjouke, Barbara; Peloso, Gina M.; Moscoso, Alessa M.; Auer, Paul L.; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A.; Melander, Olle; Orho-Melander, Marju; Duga, Stefano; Sivapalaratnam, Suthesh; Nikpay, Majid; Martinelli, Nicola; Girelli, Domenico; Jackson, Rebecca D.; Kooperberg, Charles; Lange, Leslie A.; Ardissino, Diego; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Reilly, Muredach P.; Rader, Daniel J.; de Faire, Ulf; Schunkert, Heribert; Erdmann, Jeanette; Samani, Nilesh J.; Charnas, Lawrence; Altshuler, David; Gabriel, Stacey; Kastelein, John J. P.; Defesche, Joep C.; Nederveen, Aart J.; Kathiresan, Sekar; Hovingh, G. Kees

2013-01-01

Objective Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not

High-resolution geophysical profiling using a stepped-frequency ground penetrating radar

Energy Technology Data Exchange (ETDEWEB)

Noon, D; Longstaff, D [The University of Queensland, (Australia)

1996-05-01

This paper describes the results of a ground penetrating radar (GPR) system which uses stepped-frequency waveforms to obtain high-resolution geophysical profiles. The main application for this system is the high-resolution mapping of thin coal seam structures, in order to assist surface mining operations in open-cut coal mines. The required depth of penetration is one meter which represents the maximum thickness of coal seams that are designated `thin`. A resolution of five centimeters is required to resolve the minimum thickness of coal (or shale partings) which can be economically recovered in an open-cut coal mine. For this application, a stepped-frequency GPR system has been developed, because of its ultrawide bandwidth (1 to 2 GHz) and high external loop sensitivity (155 dB). The field test results of the stepped-frequency GPR system on a concrete pavement and at two Australian open-cut coal mines are also presented. 7 refs., 5 figs.

Extended-Term Dynamic Simulations with High Penetrations of Photovoltaic Generation.

Energy Technology Data Exchange (ETDEWEB)

Concepcion, Ricky James [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Elliott, Ryan Thomas [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Donnelly, Matt [Montana Tech., Butte, MT (United States); Sanchez-Gasca, Juan [GE Energy, Schenectady, NY (United States)

2016-01-01

The uncontrolled intermittent availability of renewable energy sources makes integration of such devices into today's grid a challenge. Thus, it is imperative that dynamic simulation tools used to analyze power system performance are able to support systems with high amounts of photovoltaic (PV) generation. Additionally, simulation durations expanding beyond minutes into hours must be supported. This report aims to identify the path forward for dynamic simulation tools to accom- modate these needs by characterizing the properties of power systems (with high PV penetration), analyzing how these properties affect dynamic simulation software, and offering solutions for po- tential problems. We present a study of fixed time step, explicit numerical integration schemes that may be more suitable for these goals, based on identified requirements for simulating high PV penetration systems. We also present the alternative of variable time step integration. To help determine the characteristics of systems with high PV generation, we performed small signal sta- bility studies and time domain simulations of two representative systems. Along with feedback from stakeholders and vendors, we identify the current gaps in power system modeling including fast and slow dynamics and propose a new simulation framework to improve our ability to model and simulate longer-term dynamics.

Developing High PV Penetration Cases for Frequency Response Study of U.S. Western Interconnection: Preprint

Energy Technology Data Exchange (ETDEWEB)

Tan, Jin; Zhang, Yingchen; Veda, Santosh; Elgindy, Tarek; Liu, Yilu

2017-04-11

Recent large penetrations of solar photovoltaic (PV) generation and the inertial characteristics of inverter-based generation technologies have caught the attention of those in the electric power industry in the United States. This paper presents a systematic approach to developing test cases of high penetrations of PV for the Western Interconnection. First, to examine the accuracy of the base case model, the Western Electricity Coordinating Council (WECC) model is validated by using measurement data from synchronized phasor measurement units. Based on the 2022 Light Spring case, we developed four high PV penetration cases for the WECC system that are of interest to the industry: 5% PV+15 % wind, 25% PV+15% wind, 45% PV+15% wind, 65% PV+15% wind). Additionally, a method to project PV is proposed that is based on collected, realistic PV distribution information, including the current and future PV power plant locations and penetrations in the WECC system. Both the utility-scale PV plant and residential rooftop PV are included in this study.

Autosomal dominant hereditary ataxia in Sri Lanka

OpenAIRE

Sumathipala, Dulika S; Abeysekera, Gayan S; Jayasekara, Rohan W; Tallaksen, Chantal ME; Dissanayake, Vajira HW

2013-01-01

Background Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Methods ...

Chloride Penetration through Cracks in High-Performance Concrete and Surface Treatment System for Crack Healing

Directory of Open Access Journals (Sweden)

In-Seok Yoon

2012-01-01

Full Text Available For enhancing the service life of concrete structures, it is very important to minimize crack at surface. Even if these cracks are very small, the problem is to which extend these cracks may jeopardize the durability of these decks. It was proposed that crack depth corresponding with critical crack width from the surface is a crucial factor in view of durability design of concrete structures. It was necessary to deal with chloride penetration through microcracks characterized with the mixing features of concrete. This study is devoted to examine the effect of high strength concrete and reinforcement of steel fiber on chloride penetration through cracks. High strength concrete is regarded as an excellent barrier to resist chloride penetration. However, durability performance of cracked high strength concrete was reduced seriously up to that of ordinary cracked concrete. Steel fiber reinforcement is effective to reduce chloride penetration through cracks because steel fiber reinforcement can lead to reduce crack depth significantly. Meanwhile, surface treatment systems are put on the surface of the concrete in order to seal the concrete. The key-issue is to which extend a sealing is able to ensure that chloride-induced corrosion can be prevented. As a result, penetrant cannot cure cracks, however, coating and combined treatment can prevent chloride from flowing in concrete with maximum crack width of 0.06 mm and 0.08 mm, respectively.

Facing the challenges of distribution systems operation with high wind power penetration

DEFF Research Database (Denmark)

Das, Kaushik; Altin, Müfit; Hansen, Anca Daniela

2017-01-01

power flow in 60kV distribution networks through controlling the ability of wind power plants (WPPs) to generate or absorb reactive power. This paper aims to understand the characteristics of a distribution network with high penetration of distributed generation. A detailed analysis of the active...... and reactive power flows in a real distribution network under different wind and load conditions based on actual measurements is performed in order to understand the correlation between the consumption, wind power production, and the network losses. Conclusive remarks are presented, briefly expressing......This paper addresses the challenges associated with the operation of a distribution system with high penetration of wind power. The paper presents some preliminary investigations of an ongoing Danish research work, which has as main objective to reduce the network losses by optimizing the reactive...

High-pressure-induced water penetration into 3-isopropylmalate dehydrogenase

International Nuclear Information System (INIS)

Nagae, Takayuki; Kawamura, Takashi; Chavas, Leonard M. G.; Niwa, Ken; Hasegawa, Masashi; Kato, Chiaki; Watanabe, Nobuhisa

2012-01-01

Structures of 3-isopropylmalate dehydrogenase were determined at pressures ranging from 0.1 to 650 MPa. Comparison of these structures gives a detailed picture of the swelling of a cavity at the dimer interface and the generation of a new cleft on the molecular surface, which are accompanied by water penetration. Hydrostatic pressure induces structural changes in proteins, including denaturation, the mechanism of which has been attributed to water penetration into the protein interior. In this study, structures of 3-isopropylmalate dehydrogenase (IPMDH) from Shewanella oneidensis MR-1 were determined at about 2 Å resolution under pressures ranging from 0.1 to 650 MPa using a diamond anvil cell (DAC). Although most of the protein cavities are monotonically compressed as the pressure increases, the volume of one particular cavity at the dimer interface increases at pressures over 340 MPa. In parallel with this volume increase, water penetration into the cavity could be observed at pressures over 410 MPa. In addition, the generation of a new cleft on the molecular surface accompanied by water penetration could also be observed at pressures over 580 MPa. These water-penetration phenomena are considered to be initial steps in the pressure-denaturation process of IPMDH

A review of penetration mechanisms and dynamic properties of tungsten and depleted uranium penetrators

International Nuclear Information System (INIS)

Andrew, S.P.; Caligiuri, R.D.; Eiselstein, L.E.

1991-01-01

Kinetic energy penetrators must posses the best possible combination of hardness, stiffness, strength, and fracture toughness characteristics to be effective against modern armor systems. Over the last decade, depleted uranium (DU) and tungsten alloys have been the materials of choice for kinetic energy penetrators. Du and tungsten perform abut the same against semi-infinite targets, and DU outperforms tungsten penetrators in oblique, spaced array targets, but because of environmental and subsequent cost concerns, effort has focused on improving the performance of tungsten penetrators over the last few years. However, despite recent improvements in material properties, the penetration performance of tungsten still lags behind that of DU. One possible reason is the difference in deformation mechanisms at the leading edge of the penetrator during the penetration process-DU alloys tend to shear band and sharpen as they penetrate the target material, whereas tungsten penetrators tend to mushroom and blunt. As a first step to determine whether shear banding is truly the reason for superior DU performance, a review of the fabrication, high strain-rate properties, and penetration phenomena of penetrators manufactured from both tungsten and DU alloys. Specifically, the effects of composition, processing, and heat treatment on material properties and penetration mechanisms of these alloys are discussed

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

Science.gov (United States)

Schüle, R; Bonin, M; Dürr, A; Forlani, S; Sperfeld, A D; Klimpe, S; Mueller, J C; Seibel, A; van de Warrenburg, B P; Bauer, P; Schöls, L

2009-06-02

Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP families do not link to any of the known HSP loci. In this study, we aimed to map the disease locus in a German family segregating autosomal dominant complicated HSP. A genome-wide linkage analysis was performed using the GeneChip Mapping 10Kv2.0 Xba Array containing 10,204 SNP markers. Suggestive loci were further analyzed by mapping of microsatellite markers. One locus on chromosome 12q23-24, termed SPG36, was confirmed by high density microsatellite fine mapping with a significant LOD score of 3.2. SPG36 is flanked by markers D12S318 and D12S79. Linkage to SPG36 was excluded in >20 additional autosomal dominant HSP families. Candidate genes were selected and sequenced. No disease-causing mutations were identified in the coding regions of ATXN2, HSPB8, IFT81, Myo1H, UBE3B, and VPS29. SPG36 is complicated by a sensory and motor neuropathy; it is therefore the eighth autosomal dominant subtype of complicated HSP. We report mapping of a new locus for autosomal dominant hereditary spastic paraplegia (HSP) (SPG36) on chromosome 12q23-24 in a German family with autosomal dominant HSP complicated by peripheral neuropathy.

A review of penetration mechanisms and dynamic properties of tungsten and depleted uranium penetrators

International Nuclear Information System (INIS)

Andrew, S.P.; Caligiuri, R.D.; Eiselstein, L.E.

1991-01-01

Over the last decade, depleted uranium (DU) and tungsten alloys have been the materials of choice for kinetic energy penetrators. However, despite improvements in mechanical properties in recent years, the penetration performance of tungsten still lags behind that of DU. One possible reason is the difference in deformation mechanisms- DU alloys tend to shear band as they penetrate the target material, whereas tungsten penetrators tend to mushroom. As a first step to determining whether shear banding is truly the reason for superior DU performance, a review and summary of the available information was performed. This paper presents a state-of-the-art review of the formulation, high strain- rate properties, and penetration phenomena of penetrators manufactured from both tungsten and DU alloys. Specifically, the effects of composition, processing, and heat treatment on mechanical properties and penetration mechanisms of these alloys are discussed. Penetration data and models for penetration mechanisms (in particular shear banding) are also presented, as well as the applicability of these models and their salient features

High-velocity Penetration of Concrete Targets with Three Types of Projectiles: Experiments and Analysis

Directory of Open Access Journals (Sweden)

Shuang Zhang

Full Text Available Abstract This study conducted high-velocity penetration experiments using conventional ogive-nose, double-ogive-nose, and grooved-tapered projectiles of approximately 2.5 kg and initial velocities between 1000 and 1360 m/s to penetrate or perforate concrete targets with unconfined compressive strengths of nominally 40MPa. The penetration performance data of these three types of projectiles with two different types of materials (i.e., AerMet100 and DT300 were obtained. The crater depth model considering both the projectile mass and the initial velocity was proposed based on the test results and a theoretical analysis. The penetration ability and the trajectory stability of these three projectile types were compared and analyzed accordingly. The results showed that, under these experimental conditions, the effects of these two different kinds of projectile materials on the penetration depth and mass erosion rate of projectile were not obvious. The existing models could not reflect the crater depths for projectiles of greater weights or higher velocities, whereas the new model established in this study was reliable. The double-ogive-nose has a certain effect of drag reduction. Thus, the double-ogive-nose projectile has a higher penetration ability than the conventional ogive-nose projectile. Meanwhile, the grooved-tapered projectile has a better trajectory stability, because the convex parts of tapered shank generated the restoring moment to stabilize the trajectory.

Eddy current testing with high penetration

International Nuclear Information System (INIS)

Becker, R.; Kroening, M.

1999-01-01

The low-frequency eddy current testing method is used when penetration into very deep layers is required. The achievable penetration depth is determined among other parameters by the lowest testing frequency that can be realised together with the eddy current sensor. When using inductive sensors, the measuring effect declines proportional to the lowering frequency (induction effect). Further reduction of testing frequency requires other types of sensors, as e.g. the GMR (Giant Magnetic Resistance), which achieves a constant measuring sensitivity down to the steady field. The multi-frequency eddy current testing method MFEC 3 of IZFP described here can be operated using three different scanning frequencies at a time. Two variants of eddy current probes are used in this case. Both have an inductive winding at their emitters, of the type of a measuring probe. The receiver end is either also an inductive winding, or a magnetic field-responsive resistance (GMR). (orig./CB) [de

Microgrid optimal scheduling considering impact of high penetration wind generation

Science.gov (United States)

Alanazi, Abdulaziz

The objective of this thesis is to study the impact of high penetration wind energy in economic and reliable operation of microgrids. Wind power is variable, i.e., constantly changing, and nondispatchable, i.e., cannot be controlled by the microgrid controller. Thus an accurate forecasting of wind power is an essential task in order to study its impacts in microgrid operation. Two commonly used forecasting methods including Autoregressive Integrated Moving Average (ARIMA) and Artificial Neural Network (ANN) have been used in this thesis to improve the wind power forecasting. The forecasting error is calculated using a Mean Absolute Percentage Error (MAPE) and is improved using the ANN. The wind forecast is further used in the microgrid optimal scheduling problem. The microgrid optimal scheduling is performed by developing a viable model for security-constrained unit commitment (SCUC) based on mixed-integer linear programing (MILP) method. The proposed SCUC is solved for various wind penetration levels and the relationship between the total cost and the wind power penetration is found. In order to reduce microgrid power transfer fluctuations, an additional constraint is proposed and added to the SCUC formulation. The new constraint would control the time-based fluctuations. The impact of the constraint on microgrid SCUC results is tested and validated with numerical analysis. Finally, the applicability of proposed models is demonstrated through numerical simulations.

Genetic architecture of autosome-mediated hybrid male sterility in Drosophila.

Science.gov (United States)

Marín, I

1996-04-01

Several estimators have been developed for assessing the number of sterility factors in a chromosome based on the sizes of fertile and sterile introgressed fragments. Assuming that two factors are required for producing sterility, simulations show that one of these, twice the inverse of the relative size of the largest fertile fragment, provides good average approximations when as few as five fertile fragments are analyzed. The estimators have been used for deducing the number of factors from previous data on several pairs of species. A particular result contrasts with the authors' interpretations: instead of the high number of sterility factors suggested, only a few per autosome are estimated in both reciprocal crosses involving Drosophila buzzatii and D. koepferae. It has been possible to map these factors, between three and six per chromosome, in the autosomes 3 and 4 of these species. Out of 203 introgressions of different fragments or combinations of fragments, the outcome of at least 192 is explained by the mapped zones. These results suggest that autosome-mediated sterility in the male hybrids of these species is mediated by a few epistatic factors, similarly to X-mediated sterility in the hybrids of other Drosophila species.

Managing high penetration of renewable energy in MV grid by electric vehicle storage

DEFF Research Database (Denmark)

Kordheili, Reza Ahmadi; Bak-Jensen, Birgitte; Pillai, Jayakrishnan Radhakrishna

2015-01-01

This paper proposes an intelligent algorithm for dealing with high penetration of renewable energy sources (RESs) in the medium voltage by intelligently managing electric vehicles (EVs), as one of the grid flexible loads. The MV grid used in this work is a CIGRE benchmark grid. Different...... residential and industrial loads are considered in this grid. The connection of medium voltage wind turbines to the grid is investigated. The solar panels in this study are residential panels. Also, EVs are located among the buses with residential demand. The study is done for different winter and summer...... scenarios, considering typical load profiles in Denmark. Different scenarios have been studied with different penetration level of RESs in the grid. The results show the capability of the proposed algorithm to reduce voltage deviations among the grid buses, as well as to increase the RES penetration...

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Science.gov (United States)

Espinós, Carmen; Calpena, Eduardo; Martínez-Rubio, Dolores; Lupo, Vincenzo

2012-01-01

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.

Price Forecasting of Electricity Markets in the Presence of a High Penetration of Wind Power Generators

OpenAIRE

Saber Talari; Miadreza Shafie-khah; Gerardo J. Osório; Fei Wang; Alireza Heidari; João P. S. Catalão

2017-01-01

Price forecasting plays a vital role in the day-ahead markets. Once sellers and buyers access an accurate price forecasting, managing the economic risk can be conducted appropriately through offering or bidding suitable prices. In networks with high wind power penetration, the electricity price is influenced by wind energy; therefore, price forecasting can be more complicated. This paper proposes a novel hybrid approach for price forecasting of day-ahead markets, with high penetration of wind...

Autosomal dominant arteriopathy with sub cortical infarcts and leucoencephalopathy (CADASIL)

International Nuclear Information System (INIS)

Ojeda, Adriana; Tiezzi, Gerardo; Uriarte, Ana M.; Eguren, Leonor

2002-01-01

Cerebral autosomal dominant arteriopathy with sub cortical infarcts and leucoencephalopathy (CASADIL) is a systemic hereditary, vascular disease that involves small arteries. Recurrent ischemia, pseudo bulbar paralysis and dementia are characteristic. Other manifestations include migraine and depression. We report an Argentine family with VI generations with evidence of disease in IV. MR examinations were performed on 21 family members (both symptomatic and asymptomatic). The main findings on MR on symptomatic and asymptomatic patients were small lesions with high signal on T2 localised in periventricular white matter, brain stem, basal ganglia and thalamus, and confluent patches on white matter although with high signal on T2 images, usually symmetric. In conclusion we can assess that diffuse myelin loss and small infarcts occurring in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy well demonstrated with MR. In addition, some of the abnormalities in pre symptomatic patients can be identified on MR images. (author)

Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia

NARCIS (Netherlands)

Sjouke, B.; Yahya, R.; Tanck, M.W.T.; Defesche, J.C.; Graaf, J. de; Wiegman, A.; Kastelein, J.J.; Mulder, M.T.; Hovingh, G.K.; Roeters van Lennep, J.E.

2017-01-01

BACKGROUND: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and

High-strength uranium-0.8 weight percent titanium alloy penetrators

International Nuclear Information System (INIS)

Northcutt, W.G.

1978-09-01

Long-rod kinetic-energy penetrators, produced from a uranium-0.8 titanium (U-0.8 Ti) alloy, are normally water quenched from the gamma phase (approximately 800 0 C) and aged to the desired hardness and strength levels. High cooling rates from 800 0 C in U-0.8 Ti alloy cylindrical bodies larger than about 13 mm in diameter cause internal voids, while slower rates of cooling can produce material that is unresponsive to aging. For the present study, elimination of quenching voids was of paramount importance; therefore, a process including the quenching of plate was explored. Vacuum-induction-cast ingots were forged and rolled into plate and cut into blanks from which the penetrators were obtained. Quenched U-0.8 Ti alloy blanks were aged at 350 to 500 0 C to determine the treatment that would provide maximum tensile and impact strengths. Both tensile and impact strengths were maximized by aging in vacuum for six hours at 450 0 C

Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia

NARCIS (Netherlands)

Sjouke, Barbara; Yahya, Reyhana; Tanck, Michael W. T.; Defesche, Joep C.; de Graaf, Jacqueline; Wiegman, Albert; Kastelein, John J. P.; Mulder, Monique T.; Hovingh, G. Kees; Roeters van Lennep, Jeanine E.

2017-01-01

Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Science.gov (United States)

Flynn, Maureen A; Milunsky, Jeff M

2006-06-15

Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

Long-rod penetration: the transition zone between rigid and hydrodynamic penetration modes

Directory of Open Access Journals (Sweden)

Jian-feng Lou

2014-06-01

Full Text Available Long-rod penetration in a wide range of velocity means that the initial impact velocity varies in a range from tens of meters per second to several kilometers per second. The long rods maintain rigid state when the impact velocity is low, the nose of rod deforms and even is blunted when the velocity gets higher, and the nose erodes and fails to lead to the consumption of long projectile when the velocity is very high due to instantaneous high pressure. That is, from low velocity to high velocity, the projectile undergoes rigid rods, deforming non-erosive rods, and erosive rods. Because of the complicated changes of the projectile, no well-established theoretical model and numerical simulation have been used to study the transition zone. Based on the analysis of penetration behavior in the transition zone, a phenomenological model to describe target resistance and a formula to calculate penetration depth in transition zone are proposed, and a method to obtain the boundary velocity of transition zone is determined. A combined theoretical analysis model for three response regions is built by analyzing the characteristics in these regions. The penetration depth predicted by this combined model is in good agreement with experimental result.

Autosomal dominant adult neuronal ceroid lipofuscinosis

NARCIS (Netherlands)

Nijssen, Peter C.G.

2011-01-01

this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.

Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

Science.gov (United States)

Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

2014-01-01

Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

Differences in Femoral Head Penetration Between Highly Cross-Linked Polyethylene Cemented Sockets and Uncemented Liners.

Science.gov (United States)

Morita, Daigo; Seki, Taisuke; Higuchi, Yoshitoshi; Takegami, Yasuhiko; Ishiguro, Naoki

2017-12-01

This study aimed at investigating differences in femoral head penetration between highly cross-linked polyethylene (HXLPE) cemented sockets and uncemented liners during 5 years postoperatively. Ninety-six patients (106 hips) with a mean age of 64.4 (range, 35-83) years underwent total hip arthroplasty using a HXLPE cemented socket or liner and were respectively divided into cemented (35 patients [37 hips]) and uncemented (61 patients [69 hips]) groups. Femoral head penetrations were evaluated on both anteroposterior (AP)-view and Lauenstein-view radiographs, and mean polyethylene (PE) wear rates were calculated based on femoral head penetration from 2 to 5 years. Multivariate analyses were performed to assess risk factors for PE wear. At 5 years postoperatively, the cemented and uncemented groups exhibited proximal direction femoral head penetrations of 0.103 mm and 0.124 mm (P = .226) and anterior direction penetrations of 0.090 mm and 0.151 mm (P = .002), respectively. The corresponding mean PE wear rates were 0.004 mm/y and 0.009 mm/y in the AP-view (P = .286) and 0.005 mm/y and 0.012 mm/y in the Lauenstein-view (P = .168), respectively. Left-side operation and high activity were independent risk factors for PE wear on AP-view. When HXLPE was used, all mean PE wear rates were very low and those of cemented sockets and uncemented liners were very similar. PE particle theory suggests that the occurrence of osteolysis and related aseptic loosening might consequently decrease. Copyright © 2017 Elsevier Inc. All rights reserved.

High-Penetration PV Integration Handbook for Distribution Engineers

Energy Technology Data Exchange (ETDEWEB)

Seguin, Rich [Electrical Distribution Design, Blacksburg, VA (United States); Woyak, Jeremy [Electrical Distribution Design, Blacksburg, VA (United States); Costyk, David [Electrical Distribution Design, Blacksburg, VA (United States); Hambrick, Josh [Electrical Distribution Design, Blacksburg, VA (United States); Mather, Barry [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2016-01-01

This handbook has been developed as part of a five-year research project which began in 2010. The National Renewable Energy Laboratory (NREL), Southern California Edison (SCE), Quanta Technology, Satcon Technology Corporation, Electrical Distribution Design (EDD), and Clean Power Research (CPR) teamed together to analyze the impacts of high-penetration levels of photovoltaic (PV) systems interconnected onto the SCE distribution system. This project was designed specifically to leverage the experience that SCE and the project team would gain during the significant installation of 500 MW of commercial scale PV systems (1-5 MW typically) starting in 2010 and completing in 2015 within SCE’s service territory through a program approved by the California Public Utility Commission (CPUC).

High performance ground penetrating radar survey of TA-49/Area 2. Final report

International Nuclear Information System (INIS)

Hoeberling, R.F.; Rangel, M.J. III

1994-09-01

The results of high performance ground penetrating radar study of Area 2 at Technical Area 49 are presented. The survey was commissioned as part of Los Alamos Laboratory's continuing Environmental Remediation program and was completed and analyzed before borehole studies in Area 2 were started. Based upon the ground penetrating radar results, the location of one of the planned boreholes was moved to assure the drilling area was as safe as possible. While earlier attempts to use commercial radar devices at this facility had not been successful, the radar and digital processing system developed at Los Alamos were able to significantly improve the buried physical detail of the site

High-resolution mapping, modeling, and evolution of subsurface geomorphology using ground-penetrating radar techniques

Digital Repository Service at National Institute of Oceanography (India)

Loveson, V.J.; Gujar, A.R.

subsurface. It has been useful to decipher shallow geomorphic structures having various options to use different antennas for different depth penetration (0-30 m) with higher resolution.   7.2 Principles of GPR  Ground Penetrating Radar (GPR) was invented... about 90m. Flat and plain land is being used, at present, for agriculture (paddy cultivation) practice. Sand dunes are low lying and highly reworked due to social forestry plantation (acacia) activities. 13    7.8.6 Paleo­Lagoon  GPR data shows two...

Potential of ultrafine grained materials as high performance penetrator materials

Directory of Open Access Journals (Sweden)

Lee C.S.

2012-08-01

Full Text Available The shear formability and the metal jet formability are important for the kinetic energy penetrator and the chemical energy penetrator, respectively. The shear formability of ultrafine grained (UFG steel was examined, mainly focusing on the effects of the grain shape on the shear characteristics. For this purpose, UFG 4130 steel having the different UFG structures, the lamellar UFG and the equiaxed UFG, was prepared by equal channel angular pressing (ECAP. The lamellar UFG steel exhibited more sharper and localized shear band formation than the equiaxed UFG steel. This is because a lamellar UFG structure was unfavourable against grain rotation which is a main mechanism of the band propagation in UFG materials. Meanwhile, the metal jet formability of UFG OFHC Cu also processed by ECAP was compared to that of coarse grained (CG one by means of dynamic tensile extrusion (DTE tests. CG OFHC Cu exhibited the higher DTE ductility, i.e. better metal jet stability, than UFG OFHC Cu. The initial high strength and the lack of strain hardenability of UFG OFHC Cu were harmful to the metal jet formability.

Penetrating bladder trauma: a high risk factor for associated rectal injury.

Science.gov (United States)

Pereira, B M; Reis, L O; Calderan, T R; de Campos, C C; Fraga, G P

2014-01-01

Demographics and mechanisms were analyzed in prospectively maintained level one trauma center database 1990-2012. Among 2,693 trauma laparotomies, 113 (4.1%) presented bladder lesions; 51.3% with penetrating injuries (n = 58); 41.3% (n = 24) with rectal injuries, males corresponding to 95.8%, mean age 29.8 years; 79.1% with gunshot wounds and 20.9% with impalement; 91.6% arriving the emergence room awake (Glasgow 14-15), hemodynamically stable (average systolic blood pressure 119.5 mmHg); 95.8% with macroscopic hematuria; and 100% with penetrating stigmata. Physical exam was not sensitive for rectal injuries, showing only 25% positivity in patients. While 60% of intraperitoneal bladder injuries were surgically repaired, extraperitoneal ones were mainly repaired using Foley catheter alone (87.6%). Rectal injuries, intraperitoneal in 66.6% of the cases and AAST-OIS grade II in 45.8%, were treated with primary suture plus protective colostomy; 8.3% were sigmoid injuries, and 70.8% of all injuries had a minimum stool spillage. Mean injury severity score was 19; mean length of stay 10 days; 20% of complications with no death. Concomitant rectal injuries were not a determinant prognosis factor. Penetrating bladder injuries are highly associated with rectal injuries (41.3%). Heme-negative rectal examination should not preclude proctoscopy and eventually rectal surgical exploration (only 25% sensitivity).

Posterior fossa scintiangiography: documentation of genetic penetrance of von Hippel--Lindau syndrome in a clinically unaffected girl and her father

International Nuclear Information System (INIS)

Hattner, R.S.

1975-01-01

The syndrome of von Hippel and Lindau is a rare hereditary disorder constituted by retinal angiomata, posterior fossa and spinal cord hemangioblastomata, cystic and adenomatous dysplasia of major organs, and occasionally renal cell carcinomata. Although the syndrome is transmitted by an autosomal dominant gene, the penetrance is variable and affected persons may have any or all of the elements of the disease. The 16-year-old clinically normal daughter of a patient with the von Hippel--Lindau syndrome demonstrated a vascular posterior fossa lesion on /sup 99m/Tc-DTPA scintiangiography that failed detection in delayed images. Contrast arteriography corroborated the presence of a hemangioblastoma. Noninvasive demonstration of the genetic penetrance of this disorder offers its victims an opportunity for low morbidity early surgical cure of the associated brain lesions. (auth)

Autosomal Dominant Polycystic Kidney Disease

Science.gov (United States)

... NIH Director Organization Budget History NIH Almanac Public Involvement Outreach & Education Visitor Information RePORT NIH Fact Sheets Home > Autosomal ... other than the observation that 50 percent of children born to an affected parent would develop the disease. Diagnosis of well-established ...

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa

NARCIS (Netherlands)

Bleeker-Wagemakers, L. M.; Gal, A.; Kumar-Singh, R.; van den Born, L. I.; Li, Y.; Schwinger, E.; Sandkuijl, L. A.; Bergen, A. A.; Kenna, P.; Humphries, P.

1992-01-01

Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has previously been shown to be the case in autosomal

High penetration wind generation impacts on spot prices in the Australian national electricity market

International Nuclear Information System (INIS)

Cutler, Nicholas J.; Boerema, Nicholas D.; MacGill, Iain F.; Outhred, Hugh R.

2011-01-01

This paper explores wind power integration issues for the South Australian (SA) region of the Australian National Electricity Market (NEM) by assessing the interaction of regional wind generation, electricity demand and spot prices over 2 recent years of market operation. SA's wind energy penetration has recently surpassed 20% and it has only a limited interconnection with other regions of the NEM. As such, it represents an interesting example of high wind penetration in a gross wholesale pool market electricity industry. Our findings suggest that while electricity demand continues to have the greatest influence on spot prices in SA, wind generation levels have become a significant secondary influence, and there is an inverse relationship between wind generation and price. No clear relationship between wind generation and demand has been identified although some periods of extremely high demand may coincide with lower wind generation. Periods of high wind output are associated with generally lower market prices, and also appear to contribute to extreme negative price events. The results highlight the importance of electricity market and renewable policy design in facilitating economically efficient high wind penetrations. - Highlights: → In South Australia (SA) wind generation is having an influence on market prices. → Little or no correlation is found between wind generation and demand. → Wind farms in SA are receiving a lower average price than in other States. → The results highlight the importance of appropriate electricity market design.

Effect of Using Metakaolin on Chloride Ion Penetration in High Performance Steel Fiber Reinforced Concrete

Directory of Open Access Journals (Sweden)

Adnan Mohammed Shihab

2016-03-01

Full Text Available This paper attempts to reduce the penetrability of high performance steel fiber reinforced concrete to chloride ions originating from external sources, by using High Reactivity Metakaolin (HRM as a highly active pozzolanic material, in order to prolong the time to initiation of the steel fibers corrosion and to minimize concrete damage that may occur due to the exposure to chloride ion penetration. According to pozzolanic activity index (P.A.I., 8% content of HRM was used as a partial replacement by weight of cement with 2% steel fibers by volume of concrete. During the exposure period of 300 days in 4.5% of NaCl solution, the total and free chloride contents (Cltotal, Clfree with the chloride profiles at the ages of 28 and 300 days were investigated. Also the rapid chloride penetrability test (RCPT, compressive and flexural strengths tests were conducted at the ages of 28, 90, 180 and 300 days. Results showed that the incorporation of 8% HRM caused a reduction in the (Clfree/Cltota ratio, the chloride penetration depth and the electrical conductivity with percentages of 21%, 40% and 43% respectively after 300 days exposure to chloride solution in comparing with the mix of 0% HRM. Results also indicated that the losses in compressive and flexural strengths after exposure of 300 days to chloride solution for the mix incorporating 8% HRM were by 5% and 5.8% respectively while they reached 9.5% and 11% respectively for the mix without HRM in relation to the correspondent test specimens cured in tap water.

Update on the Management of High-Risk Penetrating Keratoplasty.

Science.gov (United States)

Jabbehdari, Sayena; Rafii, Alireza Baradaran; Yazdanpanah, Ghasem; Hamrah, Pedram; Holland, Edward J; Djalilian, Ali R

2017-03-01

In this article, we review the indications and latest management of high-risk penetrating keratoplasty. Despite the immune-privilege status of the cornea, immune-mediated graft rejection still remains the leading cause of corneal graft failure. This is particularly a problem in the high-risk graft recipients, namely patients with previous graft failure due to rejection and those with inflamed and vascularized corneal beds. A number of strategies including both local and systemic immunosuppression are currently used to increase the success rate of high-risk corneal grafts. Moreover, in cases of limbal stem cell deficiency, limbal stem cells transplantation is employed. Corticosteroids are still the top medication for prevention and treatment in cases of corneal graft rejection. Single and combined administration of immunosuppressive agents e.g. tacrolimus, cyclosporine and mycophenolate are promising adjunctive therapies for prolonging graft survival. In the future, cellular and molecular therapies should allow us to achieve immunologic tolerance even in high-risk grafts.

In-place HEPA filter penetration test

International Nuclear Information System (INIS)

Bergman, W.; Wilson, K.; Elliott, J.; Bettencourt, B.; Slawski, J.W.

1997-01-01

We have demonstrated the feasibility of conducting penetration tests on high efficiency particulate air (HEPA) filters as installed in nuclear ventilation systems. The in-place penetration test, which is designed to yield equivalent penetration measurements as the standard DOP efficiency test, is based on measuring the aerosol penetration of the filter installation as a function of particle size using a portable laser particle counter. This in-place penetration test is compared to the current in-place leak test using light scattering photometers for single HEPA filter installations and for HEPA filter plenums using the shroud method. Test results show the in-place penetration test is more sensitive than the in-place leak test, has a similar operating procedure, but takes longer to conduct. Additional tests are required to confirm that the in-place penetration test yields identical results as the standard dioctyl phthalate (DOP) penetration test for HEPA filters with controlled leaks in the filter and gasket and duct by-pass leaks. Further development of the procedure is also required to reduce the test time before the in- place penetration test is practical

Andhidrotic ectodermal dysplasia-autosomal recessive form

Directory of Open Access Journals (Sweden)

Inamadar Arun

1994-01-01

Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

Autosomal dominant inheritance of Weaver syndrome.

OpenAIRE

Fryer, A; Smith, C; Rosenbloom, L; Cole, T

1997-01-01

Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

Transport mean free path related to trajectory patterns: Comparison of nonrelativistic and highly relativistic electron penetration through matter

International Nuclear Information System (INIS)

Liljequist, D.; Ismail, M.

1987-01-01

This analysis is based on the similarity between multiple scattering and slowing down (random walk) processes described by the same transport mean-free-path function λ/sub tr/(s) (s = path length). We discuss the connection between λ/sub tr/(s) and the characteristic appearance and scale of the trajectory pattern. Straggling is considered by means by stochastically discontinuous λ/sub tr/(s) functions. In the application to electron penetration, we show that while nonrelativistic electron penetration is modeled by λ/sub tr/ = (r-s)/α, where r is the range and α is a material-dependent dimensionless constant, highly relativistic electron penetration is modeled by λ/sub tr/proportionalexp(-s/Λ), where Λ is a length characteristic for the penetrated material. The respective trajectory patterns are distinctly different. The effect of straggling on the trajectory pattern in the highly relativistic case is demonstrated by means of a simple model of the stochastic λ/sub tr/(s) behavior

Outlook and application analysis of energy storage in power system with high renewable energy penetration

Science.gov (United States)

Feng, Junshu; Zhang, Fuqiang

2018-02-01

To realize low-emission and low-carbon energy production and consumption, large-scale development and utilization of renewable energy has been put into practice in China. And it has been recognized that power system of future high renewable energy shares can operate more reliably with the participation of energy storage. Considering the significant role of storage playing in the future power system, this paper focuses on the application of energy storage with high renewable energy penetration. Firstly, two application modes are given, including demand side application mode and centralized renewable energy farm application mode. Afterwards, a high renewable energy penetration scenario of northwest region in China is designed, and its production simulation with application of energy storage in 2050 has been calculated and analysed. Finally, a development path and outlook of energy storage is given.

Management of pain in autosomal dominant polycystic kidney disease and anatomy of renal innervation.

Science.gov (United States)

Tellman, Matthew W; Bahler, Clinton D; Shumate, Ashley M; Bacallao, Robert L; Sundaram, Chandru P

2015-05-01

Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life. Understanding the underlying anatomy of renal innervation and the various etiologies of pain that occur in autosomal dominant polycystic kidney disease can help guide proper treatments to manage pain. Reviewing previously studied treatments for pain in autosomal dominant polycystic kidney disease can help characterize treatment in a stepwise fashion. We performed a literature search of the etiology and management of pain in autosomal dominant polycystic kidney disease and the anatomy of renal innervation using PubMed® and Embase® from January 1985 to April 2014 with limitations to human studies and English language. Pain occurs in the majority of patients with autosomal dominant polycystic kidney disease due to renal, hepatic and mechanical origins. Patients may experience different types of pain which can make it difficult to clinically confirm its etiology. An anatomical and histological evaluation of the complex renal innervation helps in understanding the mechanisms that can lead to renal pain. Understanding the complex nature of renal innervation is essential for surgeons to perform renal denervation. The management of pain in autosomal dominant polycystic kidney disease should be approached in a stepwise fashion. Acute causes of renal pain must first be ruled out due to the high incidence in autosomal dominant polycystic kidney disease. For chronic pain, nonopioid analgesics and conservative interventions can be used first, before opioid analgesics are considered. If pain continues there are surgical interventions such as renal cyst decortication, renal denervation and nephrectomy that can target pain produced by renal or hepatic cysts. Chronic pain in patients with autosomal dominant polycystic kidney disease is often refractory to conservative, medical and other noninvasive treatments

Renewable Electricity Futures Study. Volume 1: Exploration of High-Penetration Renewable Electricity Futures

Energy Technology Data Exchange (ETDEWEB)

Mai, T.; Wiser, R.; Sandor, D.; Brinkman, G.; Heath, G.; Denholm, P.; Hostick, D.J.; Darghouth, N.; Schlosser, A.; Strzepek, K.

2012-06-01

The Renewable Electricity Futures (RE Futures) Study investigated the challenges and impacts of achieving very high renewable electricity generation levels in the contiguous United States by 2050. The analysis focused on the sufficiency of the geographically diverse U.S. renewable resources to meet electricity demand over future decades, the hourly operational characteristics of the U.S. grid with high levels of variable wind and solar generation, and the potential implications of deploying high levels of renewables in the future. RE Futures focused on technical aspects of high penetration of renewable electricity; it did not focus on how to achieve such a future through policy or other measures. Given the inherent uncertainties involved with analyzing alternative long-term energy futures as well as the multiple pathways that might be taken to achieve higher levels of renewable electricity supply, RE Futures explored a range of scenarios to investigate and compare the impacts of renewable electricity penetration levels (30%-90%), future technology performance improvements, potential constraints to renewable electricity development, and future electricity demand growth assumptions. RE Futures was led by the National Renewable Energy Laboratory (NREL) and the Massachusetts Institute of Technology (MIT).

Changes in the Economic Value of Variable Generation at High Penetration Levels: A Pilot Case Study of California

Energy Technology Data Exchange (ETDEWEB)

Mills, Andrew [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Wiser, Ryan [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

2012-05-18

We estimate the long-run economic value of variable renewable generation with increasing penetration using a unique investment and dispatch model that captures long-run investment decisions while also incorporating detailed operational constraints and hourly time resolution over a full year. High time resolution and the incorporation of operational constraints are important for estimating the economic value of variable generation, as is the use of a modeling framework that accommodates new investment decisions. The model is herein applied with a case study that is loosely based on California in 2030. Increasing amounts of wind, photovoltaics (PV), and concentrating solar power (CSP) with and without thermal energy storage (TES) are added one at a time. The marginal economic value of these renewable energy sources is estimated and then decomposed into capacity value, energy value, day-ahead forecast error cost, and ancillary services. The marginal economic value, as defined here, is primarily based on the combination of avoided capital investment cost and avoided variable fuel and operations and maintenance costs from other power plants in the power system. Though the model only captures a subset of the benefits and costs of renewable energy, it nonetheless provides unique insights into how the value of that subset changes with technology and penetration level. Specifically, in this case study implementation of the model, the marginal economic value of all three solar options is found to exceed the value of a flat-block of power (as well as wind energy) by \\$20--30/MWh at low penetration levels, largely due to the high capacity value of solar at low penetration. Because the value of CSP per unit of energy is found to be high with or without thermal energy storage at low penetration, we find little apparent incremental value to thermal storage at low solar penetration in the present case study analysis. The marginal economic value of PV and CSP without thermal

Distribution Networks Management with High Penetration of Photovoltaic Panels

DEFF Research Database (Denmark)

Morais, Hugo

2013-01-01

The photovoltaic solar panels penetration increases significantly in recent years in several European countries, mainly in the low voltage and medium voltage networks supported by governmental policies and incentives. Consequently, the acquisition and installation costs of PV panels decrease...... and the know–how increase significantly. Presently is important the use of new management methodologies in distribution networks to support the growing penetration of PV panels. In some countries, like in Germany and in Italy, the solar generation based in photovoltaic panels supply 40% of the demand in some...

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.

NARCIS (Netherlands)

Rawal, N.; Periquet, M.; Lohmann, E.; Lucking, C.B.; Teive, H.; Ambrosio, G.; Raskin, S.; Lincoln, S.; Hattori, N.; Guimaraes, J.; Horstink, M.W.I.M.; Santos Bele, W. Dos; Brousolle, E.; Destee, A.; Mizuno, Y.; Farrer, M.; Deleuze, J.F.; Michele, G. de; Agid, Y.; Durr, A.; Brice, A.

2003-01-01

The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly

Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.

Science.gov (United States)

Dashash, Mayssoon; Bazrafshani, Mohamed Riza; Poulton, Kay; Jaber, Saaed; Naeem, Emad; Blinkhorn, Anthony Stevenson

2011-02-01

  This study was undertaken to investigate whether a single G deletion within a series of seven G residues (codon 196) at the exon 9-intron 9 boundary of the enamelin gene ENAM and a tri-nucleotide deletion at codon 180 in exon 7 (GGA vs deletion) of ameloblastin gene AMBN could have a role in autosomal amelogenesis imperfecta among affected Syrian families.   A new technique - size-dependent, deletion screening - was developed to detect nucleotide deletion in ENAM and AMBN genes. Twelve Syrian families with autosomal-dominant or -recessive amelogenesis imperfecta were included.   A homozygous/heterozygous mutation in the ENAM gene (152/152, 152/153) was identified in affected members of three families with autosomal-dominant amelogenesis imperfecta and one family with autosomal-recessive amelogenesis imperfecta. A heterozygous mutation (222/225) in the AMBN gene was identified. However, no disease causing mutations was found. The present findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta.   Further investigations are required to identify other genes responsible for the various clinical phenotypes. © 2010 Blackwell Publishing Asia Pty Ltd.

Allele frequency distribution for 21 autosomal STR loci in Bhutan.

Science.gov (United States)

Kraaijenbrink, Thirsa; van Driem, George L; Tshering of Gaselô, Karma; de Knijff, Peter

2007-07-20

We studied the allele frequency distribution of 21 autosomal STR loci contained in the AmpFlSTR Identifiler (Applied Biosystems), the Powerplex 16 (Promega) and the FFFL (Promega) multiplex PCR kits among 936 individuals from the Royal Kingdom of Bhutan. As such these are the first published autosomal DNA results from this country.

In-place HEPA filter penetration test

Energy Technology Data Exchange (ETDEWEB)

Bergman, W.; Wilson, K.; Elliott, J. [Lawrence Livermore National Lab., CA (United States)] [and others

1997-08-01

We have demonstrated the feasibility of conducting penetration tests on high efficiency particulate air (HEPA) filters as installed in nuclear ventilation systems. The in-place penetration test, which is designed to yield equivalent penetration measurements as the standard DOP efficiency test, is based on measuring the aerosol penetration of the filter installation as a function of particle size using a portable laser particle counter. This in-place penetration test is compared to the current in-place leak test using light scattering photometers for single HEPA filter installations and for HEPA filter plenums using the shroud method. Test results show the in-place penetration test is more sensitive than the in-place leak test, has a similar operating procedure, but takes longer to conduct. Additional tests are required to confirm that the in-place penetration test yields identical results as the standard dioctyl phthalate (DOP) penetration test for HEPA filters with controlled leaks in the filter and gasket and duct by-pass leaks. Further development of the procedure is also required to reduce the test time before the in-place penetration test is practical. 14 refs., 14 figs., 3 tabs.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

OpenAIRE

Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P.; Rogaeva, Ekaterina A.; St George-Hyslop, Peter H.; Bernardi, Giorgio; Kawarai, Toshitaka

2010-01-01

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite ...

Wind power bidding in electricity markets with high wind penetration

International Nuclear Information System (INIS)

Vilim, Michael; Botterud, Audun

2014-01-01

Highlights: • We analyze the pricing systems and wind power trading in electricity markets. • We propose a model that captures the relation between market prices and wind power. • A probabilistic bidding model can increase profits for wind power producers. • Profit maximizing bidding strategies carry risks for power system operators. • We conclude that modifications of current market designs may be needed. - Abstract: Objective: The optimal day-ahead bidding strategy is studied for a wind power producer operating in an electricity market with high wind penetration. Methods: A generalized electricity market is studied with minimal assumptions about the structure of the production, bidding, or consumption of electricity. Two electricity imbalance pricing schemes are investigated, the one price and the two price scheme. A stochastic market model is created to capture the price effects of wind power production and consumption. A bidding algorithm called SCOPES (Supply Curve One Price Estimation Strategy) is developed for the one price system. A bidding algorithm called MIMICS (Multivariate Interdependence Minimizing Imbalance Cost Strategy) is developed for the two price system. Results: Both bidding strategies are shown to have advantages over the assumed “default” bidding strategy, the point forecast. Conclusion: The success of these strategies even in the case of high deviation penalties in a one price system and the implicit deviation penalties of the two price system has substantial implications for power producers and system operators in electricity markets with a high level of wind penetration. Practice implications: From an electricity market design perspective, the results indicate that further penalties or regulations may be needed to reduce system imbalance

Integration of electric drive vehicles in the Danish electricity network with high wind power penetration

DEFF Research Database (Denmark)

Chandrashekhara, Divya K; Østergaard, Jacob; Larsen, Esben

2010-01-01

/conventional) which are likely to fuel these cars. The study was carried out considering the Danish electricity network state around 2025, when the EDV penetration levels would be significant enough to have an impact on the power system. Some of the interesting findings of this study are - EDV have the potential......This paper presents the results of a study carried out to examine the feasibility of integrating electric drive vehicles (EDV) in the Danish electricity network which is characterised by high wind power penetration. One of the main aims of this study was to examine the effect of electric drive...... vehicles on the Danish electricity network, wind power penetration and electricity market. In particular the study examined the effect of electric drive vehicles on the generation capacity constraints, load curve, cross border transmission capacity and the type of generating sources (renewable...

Genetics Home Reference: autosomal dominant hypocalcemia

Science.gov (United States)

... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two ...

Environmental acceptability of high-performance alternatives for depleted uranium penetrators

Energy Technology Data Exchange (ETDEWEB)

Kerley, C.R.; Easterly, C.E.; Eckerman, K.F. [and others

1996-08-01

The Army`s environmental strategy for investigating material substitution and management is to measure system environmental gains/losses in all phases of the material management life cycle from cradle to grave. This study is the first in a series of new investigations, applying material life cycle concepts, to evaluate whether there are environmental benefits from increasing the use of tungsten as an alternative to depleted uranium (DU) in Kinetic Energy Penetrators (KEPs). Current military armor penetrators use DU and tungsten as base materials. Although DU alloys have provided the highest performance of any high-density alloy deployed against enemy heavy armor, its low-level radioactivity poses a number of environmental risks. These risks include exposures to the military and civilian population from inhalation, ingestion, and injection of particles. Depleted uranium is well known to be chemically toxic (kidney toxicity), and workplace exposure levels are based on its renal toxicity. Waste materials containing DU fragments are classified as low-level radioactive waste and are regulated by the Nuclear Regulatory Commission. These characteristics of DU do not preclude its use in KEPs. However, long-term management challenges associated with KEP deployment and improved public perceptions about environmental risks from military activities might be well served by a serious effort to identify, develop, and substitute alternative materials that meet performance objectives and involve fewer environmental risks. Tungsten, a leading candidate base material for KEPS, is potentially such a material because it is not radioactive. Tungsten is less well studied, however, with respect to health impacts and other environmental risks. The present study is designed to contribute to the understanding of the environmental behavior of tungsten by synthesizing available information that is relevant to its potential use as a penetrator.

Mastering wireless penetration testing for highly secured environments

CERN Document Server

Johns, Aaron

2015-01-01

This book is intended for security professionals who want to enhance their wireless penetration testing skills and knowledge. Since this book covers advanced techniques, you will need some previous experience in computer security and networking.

Economic viability of transmission capacity expansion at high wind penetrations

DEFF Research Database (Denmark)

Østergaard, Poul Alberg

2005-01-01

investments and analyses of the Nord Pool price variations. The analyses are done for varying degrees of wind power penetrations ranging from 20% of the West Danish electricity demand up to 100% of the demand. The analyses demonstrate, that while there is an economic potential for some expansion in some years......With growing wind power penetrations in many countries, grid and system integration becomes more and more important issues. This is particularly the case in countries or regions with good wind resources as well as substantial installed wind power capacity as found in e.g. Northern Europe. At 20......% penetration in Western Denmark, the issue is pertinent here in relation to future plans of further expansion which is planned in accordance with the Danish Government’s climate change mitigation initiatives. This paper analyses the potential economic benefit of selling excess electricity production...

Economic Justification of Concentrating Solar Power in High Renewable Energy Penetrated Power Systems

Energy Technology Data Exchange (ETDEWEB)

Hodge, Brian S [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Kroposki, Benjamin D [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Du, Ershun [Tsinghua University; Zhang, Ning [Tsinghua University; Kang, Chongqing [Tsinghua University; Xia, Qing [Tsinghua University

2018-04-24

Concentrating solar power (CSP) plants are able to provide both renewable energy and operational flexibility at the same time due to its thermal energy storage (TES). It is ideal generation to power systems lacking in flexibility to accommodate variable renewable energy (VRE) generation such as wind power and photovoltaics. However, its investment cost currently is too high to justify its benefit in terms of providing renewable energy only. In this paper we evaluate the economic benefit of CSP in high renewable energy penetrated power systems from two aspects: generating renewable energy and providing operational flexibility to help accommodating VRE. In order to keep the same renewable energy penetration level during evaluation, we compare the economic costs between the system with a high share of VRE and another in which some part of the VRE generation is replaced by CSP generation. The generation cost of a power system is analyzed through chronological operation simulation over a whole year. The benefit of CSP is quantified into two parts: (1) energy benefit - the saving investment of substituted VRE generation and (2) flexibility benefit - the reduction in operating cost due to substituting VRE with CSP. The break-even investment cost of CSP is further discussed. The methodology is tested on a modified IEEE RTS-79 system. The economic justifications of CSP are demonstrated in two practical provincial power systems with high penetration of renewable energy in northwestern China, Qinghai and Gansu, where the former province has massive inflexible thermal power plants but later one has high share of flexible hydro power. The results suggest that the CSP is more beneficial in Gansu system than in Qinghai. The levelized benefit of CSP, including both energy benefit and flexibility benefit, is about 0.177-0.191 $/kWh in Qinghai and about 0.238-0.300 $/kWh in Gansu, when replacing 5-20% VRE generation with CSP generation.

Influence of jet thrust on penetrator penetration when studying the structure of space object blanket

Directory of Open Access Journals (Sweden)

N. A. Fedorova

2014-01-01

Full Text Available The article presents the calculation-and-theory-based research results to examine the possibility for using the jet thrust impulse to increase a penetration depth of high-velocity penetrator modules. Such devices can be used for studies of Earth surface layer composition, and in the nearest future for other Solar system bodies too. Research equipment (sensors and different instruments is housed inside a metal body of the penetrator with a sharpened nose that decreases drag force in soil. It was assumed, that this penetrator is additionally equipped with the pulse jet engine, which is fired at a certain stage of penetrator motion into target.The penetrator is considered as a rigid body of variable mass, which is subjected to drag force and reactive force applied at the moment the engine fires. A drag force was represented with a binomial empirical law, and penetrator nose part was considered to be conical. The jet thrust force was supposed to be constant during its application time. It was in accordance with assumption that mass flow and flow rate of solid propellant combustion products were constant. The amount of propellant in the penetrator was characterized by Tsiolkovsky number Z, which specifies the ratio between the fuel mass and the penetrator structure mass with no fuel.The system of equations to describe the penetrator dynamics was given in dimensionless form using the values aligned with penetration of an equivalent inert penetrator as the time and penetration depth scales. Penetration dynamics of penetrator represented in this form allowed to eliminate the influence of penetrator initial mass and its cross-section diameter on the solution results. The lack of such dependency is convenient for comparing the calculation results since they hold for penetrators of various initial masses and cross-sections.To calculate the penetration a lunar regolith was taken as a soil material. Calculations were carried out for initial velocities of

Renewable Electricity Futures Study. Volume 1. Exploration of High-Penetration Renewable Electricity Futures

Energy Technology Data Exchange (ETDEWEB)

Hand, M. M. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Baldwin, S. [U.S. Dept. of Energy, Washington, DC (United States); DeMeo, E. [Renewable Energy Consulting, Chicago, IL (United States); Reilly, J. M. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Mai, T. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Arent, D. [Joint Inst. for Strategic Energy Analysis, Boulder, CO (United States); Porro, G. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Meshek, M. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Sandor, D. [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2012-06-15

The Renewable Electricity Futures (RE Futures) Study investigated the challenges and impacts of achieving very high renewable electricity generation levels in the contiguous United States by 2050. The analysis focused on the sufficiency of the geographically diverse U.S. renewable resources to meet electricity demand over future decades, the hourly operational characteristics of the U.S. grid with high levels of variable wind and solar generation, and the potential implications of deploying high levels of renewables in the future. RE Futures focused on technical aspects of high penetration of renewable electricity; it did not focus on how to achieve such a future through policy or other measures. Given the inherent uncertainties involved with analyzing alternative long-term energy futures as well as the multiple pathways that might be taken to achieve higher levels of renewable electricity supply, RE Futures explored a range of scenarios to investigate and compare the impacts of renewable electricity penetration levels (30%–90%), future technology performance improvements, potential constraints to renewable electricity development, and future electricity demand growth assumptions. RE Futures was led by the National Renewable Energy Laboratory (NREL) and the Massachusetts Institute of Technology (MIT). Learn more at the RE Futures website. http://www.nrel.gov/analysis/re_futures/

Molecular evolution of a Y chromosome to autosome gene duplication in Drosophila.

Science.gov (United States)

Dyer, Kelly A; White, Brooke E; Bray, Michael J; Piqué, Daniel G; Betancourt, Andrea J

2011-03-01

In contrast to the rest of the genome, the Y chromosome is restricted to males and lacks recombination. As a result, Y chromosomes are unable to respond efficiently to selection, and newly formed Y chromosomes degenerate until few genes remain. The rapid loss of genes from newly formed Y chromosomes has been well studied, but gene loss from highly degenerate Y chromosomes has only recently received attention. Here, we identify and characterize a Y to autosome duplication of the male fertility gene kl-5 that occurred during the evolution of the testacea group species of Drosophila. The duplication was likely DNA based, as other Y-linked genes remain on the Y chromosome, the locations of introns are conserved, and expression analyses suggest that regulatory elements remain linked. Genetic mapping reveals that the autosomal copy of kl-5 resides on the dot chromosome, a tiny autosome with strongly suppressed recombination. Molecular evolutionary analyses show that autosomal copies of kl-5 have reduced polymorphism and little recombination. Importantly, the rate of protein evolution of kl-5 has increased significantly in lineages where it is on the dot versus Y linked. Further analyses suggest this pattern is a consequence of relaxed purifying selection, rather than adaptive evolution. Thus, although the initial fixation of the kl-5 duplication may have been advantageous, slightly deleterious mutations have accumulated in the dot-linked copies of kl-5 faster than in the Y-linked copies. Because the dot chromosome contains seven times more genes than the Y and is exposed to selection in both males and females, these results suggest that the dot suffers the deleterious effects of genetic linkage to more selective targets compared with the Y chromosome. Thus, a highly degenerate Y chromosome may not be the worst environment in the genome, as is generally thought, but may in fact be protected from the accumulation of deleterious mutations relative to other nonrecombining

A Dynamic Programming based method for optimizing power system restoration with high wind power penetration

DEFF Research Database (Denmark)

Hu, Rui; Hu, Weihao; Li, Pengfei

2016-01-01

and relatively low cost. Thus, many countries are increasing the wind power penetration in their power system step by step, such as Denmark, Spain and Germany. The incremental wind power penetration brings a lot of new issues in operation and programming. The power system sometimes will operate close to its...... stable limits. Once the blackout happens, a well-designed restoration strategy is significant. This paper focuses on how to ameliorate the power system restoration procedures to adapt the high wind power penetration and how to take full advantages of the wind power plants during the restoration....... In this paper, the possibility to exploit the stochastic wind power during restoration was discussed, and a Dynamic Programming (DP) method was proposed to make wind power contribute in the restoration rationally as far as possible. In this paper, the method is tested and verified by a modified IEEE 30 Buses...

Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

Directory of Open Access Journals (Sweden)

Dayananda Kumar Rajanna

2013-01-01

Full Text Available Autosomal recessive polycystic kidney disease (ARPKD is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease.

High-accuracy defect sizing for CRDM penetration adapters using the ultrasonic TOFD technique

International Nuclear Information System (INIS)

Atkinson, I.

1995-01-01

Ultrasonic time-of-flight diffraction (TOFD) is the preferred technique for critical sizing of throughwall orientated defects in a wide range of components, primarily because it is intrinsically more accurate than amplitude-based techniques. For the same reason, TOFD is the preferred technique for sizing the cracks in control rod drive mechanism (CRDM) penetration adapters, which have been the subject of much recent attention. Once the considerable problem of restricted access for the UT probes has been overcome, this inspection lends itself to very high accuracy defect sizing using TOFD. In qualification trials under industrial conditions, depth sizing to an accuracy of ≤ 0.5 mm has been routinely achieved throughout the full wall thickness (16 mm) of the penetration adapters, using only a single probe pair and without recourse to signal processing. (author)

The penetrating depth analysis of Lunar Penetrating Radar onboard Chang’e-3 rover

Science.gov (United States)

Xing, Shu-Guo; Su, Yan; Feng, Jian-Qing; Dai, Shun; Xiao, Yuan; Ding, Chun-Yu; Li, Chun-Lai

2017-04-01

Lunar Penetrating Radar (LPR) has successfully been used to acquire a large amount of scientific data during its in-situ detection. The analysis of penetrating depth can help to determine whether the target is within the effective detection range and contribute to distinguishing useful echoes from noise. First, this study introduces two traditional methods, both based on a radar transmission equation, to calculate the penetrating depth. The only difference between the two methods is that the first method adopts system calibration parameters given in the calibration report and the second one uses high-voltage-off radar data. However, some prior knowledge and assumptions are needed in the radar equation and the accuracy of assumptions will directly influence the final results. Therefore, a new method termed the Correlation Coefficient Method (CCM) is provided in this study, which is only based on radar data without any a priori assumptions. The CCM can obtain the penetrating depth according to the different correlation between reflected echoes and noise. To be exact, there is a strong correlation in the useful reflected echoes and a random correlation in the noise between adjacent data traces. In addition, this method can acquire a variable penetrating depth along the profile of the rover, but only one single depth value can be obtained from traditional methods. Through a simulation, the CCM has been verified as an effective method to obtain penetration depth. The comparisons and analysis of the calculation results of these three methods are also implemented in this study. Finally, results show that the ultimate penetrating depth of Channel 1 and the estimated penetrating depth of Channel 2 range from 136.9 m to 165.5 m ({\\varepsilon }r=6.6) and from 13.0 m to 17.5 m ({\\varepsilon }r=2.3), respectively.

Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

Directory of Open Access Journals (Sweden)

Sangita Ghosh

2014-01-01

Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

Net load forecasting for high renewable energy penetration grids

International Nuclear Information System (INIS)

Kaur, Amanpreet; Nonnenmacher, Lukas; Coimbra, Carlos F.M.

2016-01-01

We discuss methods for net load forecasting and their significance for operation and management of power grids with high renewable energy penetration. Net load forecasting is an enabling technology for the integration of microgrid fleets with the macrogrid. Net load represents the load that is traded between the grids (microgrid and utility grid). It is important for resource allocation and electricity market participation at the point of common coupling between the interconnected grids. We compare two inherently different approaches: additive and integrated net load forecast models. The proposed methodologies are validated on a microgrid with 33% annual renewable energy (solar) penetration. A heuristics based solar forecasting technique is proposed, achieving skill of 24.20%. The integrated solar and load forecasting model outperforms the additive model by 10.69% and the uncertainty range for the additive model is larger than the integrated model by 2.2%. Thus, for grid applications an integrated forecast model is recommended. We find that the net load forecast errors and the solar forecasting errors are cointegrated with a common stochastic drift. This is useful for future planning and modeling because the solar energy time-series allows to infer important features of the net load time-series, such as expected variability and uncertainty. - Highlights: • Net load forecasting methods for grids with renewable energy generation are discussed. • Integrated solar and load forecasting outperforms the additive model by 10.69%. • Net load forecasting reduces the uncertainty between the interconnected grids.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Science.gov (United States)

Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka

2010-02-01

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.

Dynamic voltage stability of a distribution system with high penetration of grid-connected photovoltaic type solar generators

Directory of Open Access Journals (Sweden)

Zetty Adibah Kamaruzzaman

2016-06-01

Full Text Available This paper presents the impact of grid-connected photovoltaic (PV generator on dynamic voltage stability of a power distribution system by considering solar intermittency, PV penetration level, and contingencies such as line outage and load increase. The IEEE 13 node test feeder is used as a test system, and a solar PV of 0.48 kV/0.5 MVA is integrated into the test system. Test results show that system voltage is stable at high PV penetration levels. Increase in load causes voltage instability, in which voltage drops below its allowable operating limit. Thus, increase in PV penetration level does not improve system voltage stability because the system experiences voltage collapse during line outage.

Validation of a combined autosomal/Y-chromosomal STR approach for analyzing typical biological stains in sexual-assault cases.

Science.gov (United States)

Purps, Josephine; Geppert, Maria; Nagy, Marion; Roewer, Lutz

2015-11-01

DNA testing is an established part of the investigation and prosecution of sexual assault. The primary purpose of DNA evidence is to identify a suspect and/or to demonstrate sexual contact. However, due to highly uneven proportions of female and male DNA in typical stains, routine autosomal analysis often fails to detect the DNA of the assailant. To evaluate the forensic efficiency of the combined application of autosomal and Y-chromosomal short tandem repeat (STR) markers, we present a large retrospective casework study of probative evidence collected in sexual-assault cases. We investigated up to 39 STR markers by testing combinations of the 16-locus NGMSElect kit with both the 23-locus PowerPlex Y23 and the 17-locus Yfiler kit. Using this dual approach we analyzed DNA extracts from 2077 biological stains collected in 287 cases over 30 months. To assess the outcome of the combined approach in comparison to stand-alone autosomal analysis we evaluated informative DNA profiles. Our investigation revealed that Y-STR analysis added up to 21% additional, highly informative (complete, single-source) profiles to the set of reportable autosomal STR profiles for typical stains collected in sexual-assault cases. Detection of multiple male contributors was approximately three times more likely with Y-chromosomal profiling than with autosomal STR profiling. In summary, 1/10 cases would have remained inconclusive (and could have been dismissed) if Y-STR analysis had been omitted from DNA profiling in sexual-assault cases. Copyright © 2015 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Science.gov (United States)

Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

1995-01-01

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.

Science.gov (United States)

Moysés-Oliveira, Mariana; Guilherme, Roberta Dos Santos; Dantas, Anelisa Gollo; Ueta, Renata; Perez, Ana Beatriz; Haidar, Mauro; Canonaco, Rosane; Meloni, Vera Ayres; Kosyakova, Nadezda; Liehr, Thomas; Carvalheira, Gianna Maria; Melaragno, Maria Isabel

2015-05-01

To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility. Retrospective and case-control study. University-based research laboratory. Three women with balanced X-autosome translocation and primary amenorrhea. Conventional cytogenetic methods, genomic array, array painting, fluorescence in situ hybridization, and quantitative reverse transcription-polymerase chain reaction. Karyotype, copy number variation, breakpoint mapping, and gene expression levels. All patients presented with breakpoints in the Xq13q21 region. In two patients, the X-chromosome breakpoint disrupted coding sequences (KIAA2022 and ZDHHC15 genes). Although both gene disruptions caused absence of transcription in peripheral blood, there is no evidence that supports the involvement of these genes with ovarian function. The ZDHHC15 gene belongs to a conserved syntenic region that encompasses the FGF16 gene, which plays a role in female germ line development. The break in the FGF16 syntenic block may have disrupted the interaction between the FGF16 promoter and its cis-regulatory element. In the third patient, although both breakpoints are intergenic, a gene that plays a role in the DAX1 pathway (FHL2 gene) flanks distally the autosome breakpoint. The FHL2 gene may be subject to position effect due to the attachment of an autosome segment in Xq21 region. The etiology of primary amenorrhea in balanced X-autosome translocation patients may underlie more complex mechanisms than interruption of specific X-linked candidate genes, such as position effect. The fine mapping of the rearrangement breakpoints may be a tool for identifying genetic pathogenic mechanisms for primary amenorrhea. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Chorioretinal dysplasia-microcephaly-mental retardation syndrome : Another family with autosomal dominant inheritance

NARCIS (Netherlands)

Hordijk, R; VandeLogt, F; Houtman, WA; VanEssen, AJ

1996-01-01

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

Directory of Open Access Journals (Sweden)

Rashid Ban Mousa

2013-01-01

channel 7 gene in this patient (Case 2. The missense mutation (CGG>TGG located in exon 15 (c.1225C>T of the Chloride channel 7 gene changed the amino acid position 409 from arginine to tryptophan (p.R409W, c.1225C>T. In addition to the clinical diagnosis of both cases, the missense mutation we identified in one allele of the Chloride channel 7 gene could be linked to autosomal dominant osteopetrosis-II because the symptoms appear in late childhood or adolescence. Conclusion In this family, the molecular diagnosis was confirmed after identification of the same mutation in the older son (sibling. Furthermore, we detected that the father and his brother (the uncle are carriers of the same mutation, whereas the mother and her sister (the aunt do not carry any mutation of the Chloride channel 7 gene. Thus, the disease penetrance is at least 60% in the family. The mother and father are cousins and a further consanguineous marriage between the aunt and the uncle is not recommended because the dominant allele of the Chloride channel 7 gene will be transferred to the progeny. However, a similar risk is also expected following a marriage between the uncle and an unrelated woman. The p.R409W mutation in the Chloride channel 7 gene has not yet been described in the literature and it possibly has a dominant-negative impact on the protein.

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.

Science.gov (United States)

Rashid, Ban Mousa; Rashid, Nawshirwan Gafoor; Schulz, Ansgar; Lahr, Georgia; Nore, Beston Faiek

2013-01-09

mutation (CGG>TGG) located in exon 15 (c.1225C>T) of the Chloride channel 7 gene changed the amino acid position 409 from arginine to tryptophan (p.R409W, c.1225C>T).In addition to the clinical diagnosis of both cases, the missense mutation we identified in one allele of the Chloride channel 7 gene could be linked to autosomal dominant osteopetrosis-II because the symptoms appear in late childhood or adolescence. In this family, the molecular diagnosis was confirmed after identification of the same mutation in the older son (sibling). Furthermore, we detected that the father and his brother (the uncle) are carriers of the same mutation, whereas the mother and her sister (the aunt) do not carry any mutation of the Chloride channel 7 gene. Thus, the disease penetrance is at least 60% in the family. The mother and father are cousins and a further consanguineous marriage between the aunt and the uncle is not recommended because the dominant allele of the Chloride channel 7 gene will be transferred to the progeny. However, a similar risk is also expected following a marriage between the uncle and an unrelated woman. The p.R409W mutation in the Chloride channel 7 gene has not yet been described in the literature and it possibly has a dominant-negative impact on the protein.

Highly accurate and fast optical penetration-based silkworm gender separation system

Science.gov (United States)

Kamtongdee, Chakkrit; Sumriddetchkajorn, Sarun; Chanhorm, Sataporn

2015-07-01

Based on our research work in the last five years, this paper highlights our innovative optical sensing system that can identify and separate silkworm gender highly suitable for sericulture industry. The key idea relies on our proposed optical penetration concepts and once combined with simple image processing operations leads to high accuracy in identifying of silkworm gender. Inside the system, there are electronic and mechanical parts that assist in controlling the overall system operation, processing the optical signal, and separating the female from male silkworm pupae. With current system performance, we achieve a very highly accurate more than 95% in identifying gender of silkworm pupae with an average system operational speed of 30 silkworm pupae/minute. Three of our systems are already in operation at Thailand's Queen Sirikit Sericulture Centers.

Genomic portrait of population of Jharkhand, India, drawn with 15 autosomal STRs and 17 Y-STRs.

Science.gov (United States)

Imam, Jahangir; Reyaz, Romana; Singh, Rama Shankar; Bapuly, Arun Kumar; Shrivastava, Pankaj

2018-01-01

We analysed 15 autosomal STRs in 200 unrelated individuals (102 males and 98 females) and 17 Y-STRs in 102 unrelated males living in Jharkhand, India, to establish parameters of forensic interest. The examined autosomal STRs revealed high combined power of exclusion (CPE) and combined power of discrimination (CPD) as equal to 0.9999 and greater than 0.99999, respectively. The combined probability of match (CP m ) and combined paternity index (CPI) for all 15 autosomal STR loci were found to be 5.15 × 10 -18 and 6.83 × 10 5 , respectively. A total of 97 unique haplotypes were obtained, of which 93 were observed only once. The haplotype diversity, discrimination capacity and matching probability for 17 Y-STR loci were 0.999, 0.951 and 1.09 × 10 -2 , respectively. The highest gene diversity values at the single copy locus DYS635 and multi-copy locus DYS385 a/b were 0.785 and 0.823, respectively.

Population data of 19 autosomal STR loci in the Li population from Hainan Province in southernmost China.

Science.gov (United States)

Fan, Haoliang; Wang, Xiao; Ren, Zheng; He, Guanglin; Long, Ren; Liang, Anwen; Song, Tao; Deng, Jianqiang

2018-03-20

In the present study, population data of 19 autosomal STR loci included in the Goldeneye™ DNA ID System 20A in 653 Li individuals was obtained and population genetic relationships among 13 populations were investigated. MDS and phylogenetic analysis suggested that the Hainan Li population kept a close genetic relationship with the Chinese Han populations, especially for Southern Han populations (Guangdong Han, Sichuan Han, and Hunan Han). Our results indicated that the 19 autosomal STRs are highly discriminative and polymorphic in the Hainan Li population suitable for personal forensic identification and paternity testing.

De novo origin of VCY2 from autosome to Y-transposed amplicon.

Directory of Open Access Journals (Sweden)

Peng-Rong Cao

Full Text Available The formation of new genes is a primary driving force of evolution in all organisms. The de novo evolution of new genes from non-protein-coding genomic regions is emerging as an important additional mechanism for novel gene creation. Y chromosomes underlie sex determination in mammals and contain genes that are required for male-specific functions. In this study, a search was undertaken for Y chromosome de novo genes derived from non-protein-coding sequences. The Y chromosome orphan gene variable charge, Y-linked (VCY2, is an autosome-derived gene that has sequence similarity to large autosomal fragments but lacks an autosomal protein-coding homolog. VCY2 locates in the amplicon containing long DNA fragments that were transposed from autosomes to the Y chromosome before the ape-monkey split. We confirmed that VCY2 cannot be encoded by autosomes due to the presence of multiple disablers that disrupt the open reading frame, such as the absence of start or stop codons and the presence of premature stop codons. Similar observations have been made for homologs in the autosomes of the chimpanzee, gorilla, rhesus macaque, baboon and out-group marmoset, which suggests that there was a non-protein-coding ancestral VCY2 that was common to apes and monkeys that predated the transposition event. Furthermore, while protein-coding orthologs are absent, a putative non-protein-coding VCY2 with conserved disablers was identified in the rhesus macaque Y chromosome male-specific region. This finding implies that VCY2 might have not acquired its protein-coding ability before the ape-monkey split. VCY2 encodes a testis-specific expressed protein and is involved in the pathologic process of male infertility, and the acquisition of this gene might improve male fertility. This is the first evidence that de novo genes can be generated from transposed autosomal non-protein-coding segments, and this evidence provides novel insights into the evolutionary history of the Y

[Autosomal dominant polycystic kidney].

Science.gov (United States)

Jorge Adad, S; Estevão Barbosa, M; Fácio Luíz, J M; Furlan Rodrigues, M C; Iwamoto, S

1996-01-01

A 48-year-old male had autosomic dominant polycystic kidneys with dimensions, to the best of our knowledge, never previously reported; the right kidney weighed 15,100 g and measured 53 x 33 x 9cm and the left one 10.200 g and 46 x 21 x 7cm, with cysts measuring up to 14cm in diameter. Nephrectomy was done to control persistent hematuria and to relief disconfort caused by the large kidneys. The renal function is stable four years after transplantation.

MDCT diagnosis of penetrating diaphragm injury

Energy Technology Data Exchange (ETDEWEB)

Bodanapally, Uttam K.; Shanmuganathan, Kathirkamanathan; Mirvis, Stuart E.; Sliker, Clint W.; Fleiter, Thorsten R.; Sarada, Kamal; Miller, Lisa A. [University of Maryland School of Medicine, Department of Diagnostic Radiology, Baltimore, MD (United States); Stein, Deborah M. [University of Maryland, Department of Surgery, Shock Trauma Center, Baltimore, MD (United States); Alexander, Melvin [National Study Center for Trauma and Emergency Medical Systems, Baltimore, MD (United States)

2009-08-15

The purpose of the study was to determine the diagnostic sensitivity and specificity of multidetector CT (MDCT) in detection of diaphragmatic injury following penetrating trauma. Chest and abdominal CT examinations performed preoperatively in 136 patients after penetrating trauma to the torso with injury trajectory in close proximity to the diaphragm were reviewed by radiologists unaware of surgical findings. Signs associated with diaphragmatic injuries in penetrating trauma were noted. These signs were correlated with surgical diagnoses, and their sensitivity and specificity in assisting the diagnosis were calculated. CT confirmed diaphragmatic injury in 41 of 47 injuries (sensitivity, 87.2%), and an intact diaphragm in 71 of 98 patients (specificity, 72.4%). The overall accuracy of MDCT was 77%. The most accurate sign helping the diagnosis was contiguous injury on either side of the diaphragm in single-entry penetrating trauma (sensitivity, 88%; specificity, 82%). Thus MDCT has high sensitivity and good specificity in detecting penetrating diaphragmatic injuries. (orig.)

MDCT diagnosis of penetrating diaphragm injury

International Nuclear Information System (INIS)

Bodanapally, Uttam K.; Shanmuganathan, Kathirkamanathan; Mirvis, Stuart E.; Sliker, Clint W.; Fleiter, Thorsten R.; Sarada, Kamal; Miller, Lisa A.; Stein, Deborah M.; Alexander, Melvin

2009-01-01

The purpose of the study was to determine the diagnostic sensitivity and specificity of multidetector CT (MDCT) in detection of diaphragmatic injury following penetrating trauma. Chest and abdominal CT examinations performed preoperatively in 136 patients after penetrating trauma to the torso with injury trajectory in close proximity to the diaphragm were reviewed by radiologists unaware of surgical findings. Signs associated with diaphragmatic injuries in penetrating trauma were noted. These signs were correlated with surgical diagnoses, and their sensitivity and specificity in assisting the diagnosis were calculated. CT confirmed diaphragmatic injury in 41 of 47 injuries (sensitivity, 87.2%), and an intact diaphragm in 71 of 98 patients (specificity, 72.4%). The overall accuracy of MDCT was 77%. The most accurate sign helping the diagnosis was contiguous injury on either side of the diaphragm in single-entry penetrating trauma (sensitivity, 88%; specificity, 82%). Thus MDCT has high sensitivity and good specificity in detecting penetrating diaphragmatic injuries. (orig.)

Variation of autosomes and X chromosome STR in breast cancer and gynecological cancer tissues

Directory of Open Access Journals (Sweden)

Hou Youxiang

2017-04-01

Full Text Available This study analyses 1000 cases of patients with breast cancer and 2000 cases of patients with gynecological cancer (1000 cases of malignant tumor, 1000 cases of benign tumors, where breast cancer and malignant tumor patients comprise the observation group, while patients with benign tumors comprise the control group. Through DNA extraction, STR genotyping and variation verification, microdissection, individual STR mutation rate and loci STR mutation rate of the two groups of patients were calculated. Results show that there are no significant (P > 0.05 differences in the STR variation of autosomes and X chromosome between patients in the observation group and those in the reference group. However, significant (P < 0.05 intergroup differences were found for STR variation typing between patients with malignant and benign tumors. Using STR genotyping for autosomes and X chromosomes, gynecological cancer patients were found to be more likely to mutate, with a clear relationship between STR variation and tumor differentiation degrees. The study on the variation analysis of autosomes and X chromosome STR in breast and gynecological cancer tissues is expected to have a high application value when applied to medical research and identification processes.

Melting Penetration Simulation of Fe-U System at High Temperature Using MPS-LER

International Nuclear Information System (INIS)

Mustari, A P A; Irwanto, Dwi; Yamaji, A

2016-01-01

Melting penetration information of Fe-U system is necessary for simulating the molten core behavior during severe accident in nuclear power plants. For Fe-U system, the information is mainly obtained from experiment, i.e. TREAT experiment. However, there is no reported data on SS304 at temperature above 1350°C. The MPS-LER has been developed and validated to simulate melting penetration on Fe-U system. The MPS-LER modelled the eutectic phenomenon by solving the diffusion process and by applying the binary phase diagram criteria. This study simulates the melting penetration of the system at higher temperature using MPS-LER. Simulations were conducted on SS304 at 1400, 1450 and 1500°C. The simulation results show rapid increase of melting penetration rate. (paper)

New autosomal recessive faciodigitogenital syndrome.

OpenAIRE

Teebi, A S; Naguib, K K; Al-Awadi, S; Al-Saleh, Q A

1988-01-01

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short s...

High Kinetic Energy Penetrator Shielding and High Wear Resistance Materials Fabricated with Boron Nitride Nanotubes (BNNTS) and BNNT Polymer Composites

Science.gov (United States)

Kang, Jin Ho (Inventor); Sauti, Godfrey (Inventor); Smith, Michael W. (Inventor); Jordan, Kevin C. (Inventor); Park, Cheol (Inventor); Bryant, Robert George (Inventor); Lowther, Sharon E. (Inventor)

2015-01-01

Boron nitride nanotubes (BNNTs), boron nitride nanoparticles (BNNPs), carbon nanotubes (CNTs), graphites, or combinations, are incorporated into matrices of polymer, ceramic or metals. Fibers, yarns, and woven or nonwoven mats of BNNTs are used as toughening layers in penetration resistant materials to maximize energy absorption and/or high hardness layers to rebound or deform penetrators. They can be also used as reinforcing inclusions combining with other polymer matrices to create composite layers like typical reinforcing fibers such as Kevlar.RTM., Spectra.RTM., ceramics and metals. Enhanced wear resistance and usage time are achieved by adding boron nitride nanomaterials, increasing hardness and toughness. Such materials can be used in high temperature environments since the oxidation temperature of BNNTs exceeds 800.degree. C. in air. Boron nitride based composites are useful as strong structural materials for anti-micrometeorite layers for spacecraft and space suits, ultra strong tethers, protective gear, vehicles, helmets, shields and safety suits/helmets for industry.

A novel approach identifying hybrid sterility QTL on the autosomes of Drosophila simulans and D. mauritiana.

Science.gov (United States)

Dickman, Christopher T D; Moehring, Amanda J

2013-01-01

When species interbreed, the hybrid offspring that are produced are often sterile. If only one hybrid sex is sterile, it is almost always the heterogametic (XY or ZW) sex. Taking this trend into account, the predominant model used to explain the genetic basis of F1 sterility involves a deleterious interaction between recessive sex-linked loci from one species and dominant autosomal loci from the other species. This model is difficult to evaluate, however, as only a handful of loci influencing interspecies hybrid sterility have been identified, and their autosomal genetic interactors have remained elusive. One hindrance to their identification has been the overwhelming effect of the sex chromosome in mapping studies, which could 'mask' the ability to accurately map autosomal factors. Here, we use a novel approach employing attached-X chromosomes to create reciprocal backcross interspecies hybrid males that have a non-recombinant sex chromosome and recombinant autosomes. The heritable variation in phenotype is thus solely caused by differences in the autosomes, thereby allowing us to accurately identify the number and location of autosomal sterility loci. In one direction of backcross, all males were sterile, indicating that sterility could be entirely induced by the sex chromosome complement in these males. In the other direction, we identified nine quantitative trait loci that account for a surprisingly large amount (56%) of the autosome-induced phenotypic variance in sterility, with a large contribution of autosome-autosome epistatic interactions. These loci are capable of acting dominantly, and thus could contribute to F1 hybrid sterility.

A novel approach identifying hybrid sterility QTL on the autosomes of Drosophila simulans and D. mauritiana.

Directory of Open Access Journals (Sweden)

Christopher T D Dickman

Full Text Available When species interbreed, the hybrid offspring that are produced are often sterile. If only one hybrid sex is sterile, it is almost always the heterogametic (XY or ZW sex. Taking this trend into account, the predominant model used to explain the genetic basis of F1 sterility involves a deleterious interaction between recessive sex-linked loci from one species and dominant autosomal loci from the other species. This model is difficult to evaluate, however, as only a handful of loci influencing interspecies hybrid sterility have been identified, and their autosomal genetic interactors have remained elusive. One hindrance to their identification has been the overwhelming effect of the sex chromosome in mapping studies, which could 'mask' the ability to accurately map autosomal factors. Here, we use a novel approach employing attached-X chromosomes to create reciprocal backcross interspecies hybrid males that have a non-recombinant sex chromosome and recombinant autosomes. The heritable variation in phenotype is thus solely caused by differences in the autosomes, thereby allowing us to accurately identify the number and location of autosomal sterility loci. In one direction of backcross, all males were sterile, indicating that sterility could be entirely induced by the sex chromosome complement in these males. In the other direction, we identified nine quantitative trait loci that account for a surprisingly large amount (56% of the autosome-induced phenotypic variance in sterility, with a large contribution of autosome-autosome epistatic interactions. These loci are capable of acting dominantly, and thus could contribute to F1 hybrid sterility.

Containment penetration design and analysis by finite element methods

International Nuclear Information System (INIS)

Perry, R.F.; Rigamonti, G.; Dainora, J.

1975-01-01

Containment penetration designs which provide complete support to process piping containing high pressure and high temperature fluids and which do not employ cooling coils, require special provisions to sustain loadings associated with normal/abnormal conditions and to limit maximum temperature transmitted to the containment concrete wall. In order to accommodate piping imposed loads and fluid temperatures within code and regulatory limitations, the containment penetration designs require careful analysis of two critical regions: the portion of the penetration sleeve which is exposed to containment ambient conditions and the portion of the penetration which connects the sleeve to process piping (flued head). The length and thickness of the sleeve must be designed to provide maximum heat dissipation to the atmosphere and minimum heat conduction through the sleeve to meet concrete temperature limitations. The sleeve must have the capability to transmit the postulated piping loads to concrete embedments in the containment shell. The penetration flued head design must be strong enough to transfer high mechanical loads and be flexible enough to accommodate the thermal stresses generated by the high temperature fluid. Analytical models using finite element representations of process piping, penetration flued head, and exposed sleeve were employed to investigate the penetration assembly design. By application of flexible multi-step analyses, different penetration configurations were evaluated to determine the effects of key design parameters. Among the parameters studied were flued head profiles, flued head angles with the process piping, sleeve length and wall thickness. Special designs employing fins welded to the sleeve to lower the temperature at the concrete wall interface were investigated and fin geometry effects reported

Final Technical Report: Distributed Controls for High Penetrations of Renewables

Energy Technology Data Exchange (ETDEWEB)

Byrne, Raymond H. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Neely, Jason C. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Rashkin, Lee J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Trudnowski, Daniel J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Wilson, David G. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

2015-12-01

The goal of this effort was to apply four potential control analysis/design approaches to the design of distributed grid control systems to address the impact of latency and communications uncertainty with high penetrations of photovoltaic (PV) generation. The four techniques considered were: optimal fixed structure control; Nyquist stability criterion; vector Lyapunov analysis; and Hamiltonian design methods. A reduced order model of the Western Electricity Coordinating Council (WECC) developed for the Matlab Power Systems Toolbox (PST) was employed for the study, as well as representative smaller systems (e.g., a two-area, three-area, and four-area power system). Excellent results were obtained with the optimal fixed structure approach, and the methodology we developed was published in a journal article. This approach is promising because it offers a method for designing optimal control systems with the feedback signals available from Phasor Measurement Unit (PMU) data as opposed to full state feedback or the design of an observer. The Nyquist approach inherently handles time delay and incorporates performance guarantees (e.g., gain and phase margin). We developed a technique that works for moderate sized systems, but the approach does not scale well to extremely large system because of computational complexity. The vector Lyapunov approach was applied to a two area model to demonstrate the utility for modeling communications uncertainty. Application to large power systems requires a method to automatically expand/contract the state space and partition the system so that communications uncertainty can be considered. The Hamiltonian Surface Shaping and Power Flow Control (HSSPFC) design methodology was selected to investigate grid systems for energy storage requirements to support high penetration of variable or stochastic generation (such as wind and PV) and loads. This method was applied to several small system models.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

NARCIS (Netherlands)

Chassine, T.; Bocquet, B.; Daien, V.; Avila-Fernandez, A.; Ayuso, C.; Collin, R.W.J.; Corton, M.; Hejtmancik, J.F.; Born, L.I. van den; Klevering, B.J.; Riazuddin, S.A.; Sendon, N.; Lacroux, A.; Meunier, I.; Hamel, C.P.

2015-01-01

OBJECTIVE: To determine the refractive error in patients with autosomal recessive retinitis pigmentosa (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP. METHODS: Twenty-six individuals had arRP with RP1 mutations, 25 had autosomal dominant RP (adRP) with RP1

Correlation Between Cone Penetration Rate And Measured Cone Penetration Parameters In Silty Soils

DEFF Research Database (Denmark)

Poulsen, Rikke; Nielsen, Benjaminn Nordahl; Ibsen, Lars Bo

2013-01-01

This paper shows, how a change in cone penetration rate affects the cone penetration measurements, hence the cone resistance, pore pressure, and sleeve friction in silty soil. The standard rate of penetration is 20 mm/s, and it is generally accepted that undrained penetration occurs in clay while...... drained penetration occurs in sand. When lowering the penetration rate, the soil pore water starts to dissipate and a change in the drainage condition is seen. In intermediate soils such as silty soils, the standard cone penetration rate may result in a drainage condition that could be undrained......, partially or fully drained. However, lowering the penetration rate in silty soils has a great significance because of the soil permeability, and only a small change in penetration rate will result in changed cone penetration measurements. In this paper, analyses will be done on data from 15 field cone...

Asynchronous replication and autosome-pair non-equivalence in human embryonic stem cells.

Directory of Open Access Journals (Sweden)

Devkanya Dutta

Full Text Available A number of mammalian genes exhibit the unusual properties of random monoallelic expression and random asynchronous replication. Such exceptional genes include genes subject to X inactivation and autosomal genes including odorant receptors, immunoglobulins, interleukins, pheromone receptors, and p120 catenin. In differentiated cells, random asynchronous replication of interspersed autosomal genes is coordinated at the whole chromosome level, indicative of chromosome-pair non-equivalence. Here we have investigated the replication pattern of the random asynchronously replicating genes in undifferentiated human embryonic stem cells, using fluorescence in situ hybridization based assay. We show that allele-specific replication of X-linked genes and random monoallelic autosomal genes occur in human embryonic stem cells. The direction of replication is coordinated at the whole chromosome level and can cross the centromere, indicating the existence of autosome-pair non-equivalence in human embryonic stem cells. These results suggest that epigenetic mechanism(s that randomly distinguish between two parental alleles are emerging in the cells of the inner cell mass, the source of human embryonic stem cells.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Science.gov (United States)

Hamza, Wahiba; Ali Pacha, Lamia; Hamadouche, Tarik; Muller, Jean; Drouot, Nathalie; Ferrat, Farida; Makri, Samira; Chaouch, Malika; Tazir, Meriem; Koenig, Michel; Benhassine, Traki

2015-06-12

Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlapping features complicate furthermore the etiological diagnosis of ARCA. The determination of the most frequent mutations and corresponding ataxias, as well as particular features specific to a population, are mandatory to facilitate and speed up the diagnosis process, especially when an appropriate treatment is available. We explored 166 patients (115 families) refered to the neurology units of Algiers central hospitals (Algeria) with a cerebellar ataxia phenotype segregating as an autosomal recessive pattern of inheritance. Genomic DNA was extracted from peripheral blood samples and mutational screening was performed by PCR and direct sequencing or by targeted genomic capture and massive parallel sequencing of 57 genes associated with inherited cerebellar ataxia phenotypes. In this work we report the clinical and molecular results obtained on a large cohort of Algerian patients (110 patients/76 families) with genetically determined autosomal recessive ataxia, representing 9 different types of ARCA and 23 different mutations, including 6 novel ones. The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia and ataxia with isolated vitamin E deficiency) coexist with forms that may be

Containment penetration design and analysis by finite element methods

International Nuclear Information System (INIS)

Perry, R.F.; Rigamonti, G.; Dainora, J.

1975-01-01

Containment penetration designs which provide complete support to process piping containing high pressure and high temperature fluids and which do not employ cooling coils, require special provisions to sustain loadings associated with normal/abnormal conditions and to limit maximum temperature transmitted to the containment concrete wall. In order to accomodate piping loads and fluid temperatures within code and regulatory limitations, the containment penetration designs require careful analysis of two critical regions: 1) the portion of the penetration sleeve which is exposed to containment ambient conditions and 2) the portion of the penetration which connects the sleeve to process piping (flued head). Analytical models using finite element representation of process piping, penetration flued head, and exposed sleeve were employed to investigate the penetration assembly design. By application of flexible multi-step analyses, different penetration configurations were evaluated to determine the effects of key design parameters. Among the parameters studied were flued head angles with the process piping, sleeve length and wall thickness. Special designs employing fins welded to the sleeve to further lower the temperature at the concrete wall interface were also investigated and fin geometry effects reported. (Auth.)

Energy Storage Options for Voltage Support in Low-Voltage Grids with High Penetration of Photovoltaic

DEFF Research Database (Denmark)

Marra, Francesco; Tarek Fawzy, Y.; Bülo, Thorsten

2012-01-01

to be established. In the long term, these solutions should also aim to allow further more PV installed capacity, while meeting the power quality requirements. In this paper, different concepts of energy storage are proposed to ensure the voltage quality requirements in a LV grid with high PV penetration...

Low Force Penetration of Icy Regolith

Science.gov (United States)

Mantovani, J. G.; Galloway, G. M.; Zacny, K.

2016-01-01

A percussive cone penetrometer measures the strength of granular material by using percussion to deliver mechanical energy into the material. A percussive cone penetrometer was used in this study to penetrate a regolith ice mixture by breaking up ice and decompacting the regolith. As compared to a static cone penetrometer, percussion allows low reaction forces to push a penetrometer probe tip more easily into dry regolith in a low gravity environment from a planetary surface rover or a landed spacecraft. A percussive cone penetrates icy regolith at ice concentrations that a static cone cannot penetrate. In this study, the percussive penetrator was able to penetrate material under 65 N of down-force which could not be penetrated using a static cone under full body weight. This paper discusses using a percussive cone penetrometer to discern changes in the concentration of water-ice in a mixture of lunar regolith simulant and ice to a depth of one meter. The rate of penetration was found to be a function of the ice content and was not significantly affected by the down-force. The test results demonstrate that this method may be ideal for a small platform in a reduced gravity environment. However, there are some cases where the system may not be able to penetrate the icy regolith, and there is some risk of the probe tip becoming stuck so that it cannot be retracted. It is also shown that a percussive cone penetrometer could be used to prospect for water ice in regolith at concentrations as high as 8 by weight.

A case of false mother included with 46 autosomal STR markers.

Science.gov (United States)

Li, Li; Lin, Yuan; Liu, Yan; Zhu, Ruxin; Zhao, Zhenmin; Que, Tingzhi

2015-01-01

For solving a maternity case, 19 autosomal short tandem repeats (STRs) were amplified using the AmpFℓSTR(®) Sinofiler(TM) kit and PowerPlex(®) 16 System. Additional 27 autosomal STR loci were analyzed using two domestic kits AGCU 21+1 and STRtyper-10G. The combined maternity index (CMI) was calculated to be 3.3 × 10(13), but the putative mother denied that she had given birth to the child. In order to reach an accurate conclusion, further testing of 20 X-chromosomal short tandem repeats (X-STRs), 40 single nucleotide polymorphism (SNP) loci, and mitochondrial DNA (mtDNA) was carried out. The putative mother and the boy shared at least one allele at all 46 tested autosomal STR loci. But, according to the profile data of 20 X-STR and 40 SNP markers, different genotypes at 13 X-STR loci and five SNP loci excluded maternity. Mitochondrial profiles also clearly excluded the mother as a parent of the son because they have multiple differences. It was finally found that the putative mother is the sister of the biological father. Different kinds of genetic markers needfully supplement the use of autosomal STR loci in case where the putative parent is suspected to be related to the true parent.

Arrestin gene mutations in autosomal recessive retinitis pigmentosa.

Science.gov (United States)

Nakazawa, M; Wada, Y; Tamai, M

1998-04-01

To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. Results of molecular genetic screening and case reports with DNA analysis and clinical features. University medical center. One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa. DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography. We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex. Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.

Projectile Nose Mass Abrasion of High-Speed Penetration into Concrete

Directory of Open Access Journals (Sweden)

Haijun Wu

2012-01-01

Full Text Available Based on the dynamic spherical cavity expansion theory of concrete and the analysis of experimental data, a mass abrasion model of projectile considering the hardness of aggregates, the relative strength of target and projectile, and the initial impact velocity is constructed in this paper. Furthermore, the effect of mass abrasion on the penetration depth of projectile and the influence of hardness of aggregates and strength of projectile on penetration depth and mass loss are also analyzed. The results show that, for the ogive-nose projectile with the CRH of 3 and aspect ratio of 7 penetrating the concrete of 35 MPa, the “rigid-body penetration” model is available when the initial impact velocity is lower than 800 m/s. However, when the initial impact velocity is higher than 800 m/s, the “deforming/eroding body penetration” model should be adopted. Through theoretical analysis and numerical calculation, the results indicate that the initial impact velocity is the most important factor of mass abrasion. The hardness of aggregates and the strength of projectile are also significant factors. But relatively speaking, the sensitivity of strength of projectile to mass abrasion is higher, which indicates that the effect of projectile material on mass abrasion is more dramatic than the hardness of aggregates.

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

Science.gov (United States)

Thomas, P K; Claus, D; King, R H

1999-02-01

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

Directory of Open Access Journals (Sweden)

Schmitt-Egenolf Marcus

2006-11-01

Full Text Available Abstract Background Hypohidrotic ectodermal dysplasia (HED is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR protein that plays an important role during embryogenesis. Methods The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED. Results A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X, thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene. Conclusion The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.

A Comparison of Selective Pressures in Plant X-Linked and Autosomal Genes.

Science.gov (United States)

Krasovec, Marc; Nevado, Bruno; Filatov, Dmitry A

2018-05-03

Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes. Our analysis, based on over 1000 genes, demonstrated that, similar to animals, X-linked genes in Silene evolve significantly faster than autosomal genes—the so-called faster-X effect. Contrary to expectations, faster-X divergence was detectable only for non-hemizygous X-linked genes. Our phylogeny-based analyses of selection revealed no evidence for faster adaptation in X-linked genes compared to autosomal genes. On the other hand, partial relaxation of purifying selection was apparent on the X-chromosome compared to the autosomes, consistent with a smaller genetic diversity in S. latifolia X-linked genes (π x = 0.016; π aut = 0.023). Thus, the faster-X divergence in S. latifolia appears to be a consequence of the smaller effective population size rather than of a faster adaptive evolution on the X-chromosome. We argue that this may be a general feature of “young” sex chromosomes, where the majority of X-linked genes are not hemizygous, preventing haploid selection in heterogametic sex.

Penetrating ureteral trauma

Directory of Open Access Journals (Sweden)

Gustavo P. Fraga

2007-04-01

Full Text Available OBJECTIVE: The purpose of this series is to report our experience in managing ureteral trauma, focusing on the importance of early diagnosis, correct treatment, and the impact of associated injuries on the management and morbid-mortality. MATERIALS AND METHODS: From January 1994 to December 2002, 1487 laparotomies for abdominal trauma were performed and 20 patients with ureteral lesions were identified, all of them secondary to penetrating injury. Medical charts were analyzed as well as information about trauma mechanisms, diagnostic routine, treatment and outcome. RESULTS: All patients were men. Mean age was 27 years. The mechanisms of injury were gunshot wounds in 18 cases (90% and stab wounds in two (10%. All penetrating abdominal injuries had primary indication of laparotomy, and neither excretory urography nor computed tomography were used in any case before surgery. The diagnosis of ureteric injury was made intra-operatively in 17 cases (85%. Two ureteral injuries (10% were initially missed. All patients had associated injuries. The treatment was dictated by the location, extension and time necessary to identify the injury. The overall incidence of complications was 55%. The presence of shock on admission, delayed diagnosis, Abdominal Trauma Index > 25, Injury Severity Score > 25 and colon injuries were associated to a high complication rate, however, there was no statistically significant difference. There were no mortalities in this group. CONCLUSIONS: A high index of suspicion is required for diagnosis of ureteral injuries. A thorough exploration of all retroperitoneal hematoma after penetrating trauma should be an accurate method of diagnosis; even though it failed in 10% of our cases.

Autosomal dominant cyclic hematopoiesis: Genetics, phenotype, and natural history

Energy Technology Data Exchange (ETDEWEB)

Palmer, S.E.; Stephens, K.; Dale, D.C. [Univ. of Washington, Seattle, WA (United States)

1994-09-01

Autosomal dominant cyclic hematopoiesis (ADCH; cyclic neutropenia) is a rare disorder manifested by transient neutropenia that recurs every three weeks. To facilitate mapping the ADCH gene by genetic linkage analysis, we studied 9 ADCH families with 42 affected individuals. Pedigrees revealed AD inheritance with no evidence for decreased penetrance. Similar intra- and interfamilial variable expression was observed, with no evidence to support heterogeneity. At least 3 families displayed apparent new mutations. Many adults developed chronic neutropenia, while offspring always cycled during childhood. Children displayed recurrent oral ulcers, gingivitis, lymphadenopathy, fever, and skin and other infections with additional symptoms. Interestingly, there were no cases of neonatal infection. Some children required multiple hospitalizations for treatment. Four males under age 18 died of Clostridium sepsis following necrotizing enterocolitis; all had affected mothers. No other deaths due to ADCH were found; most had improvement of symptoms and infections as adults. Adults experienced increased tooth loss prior to age 30 (16 out of 27 adults, with 9 edentulous). No increase in myelodysplasia, malignancy, or congenital anomalies was observed. Recombinant G-CSF treatment resulted in dramatic improvement of symptoms and infections. The results suggest that ADCH is not a benign disorder, especially in childhood, and abdominal pain requires immediate evaluation. Diagnosis of ADCH requires serial blood counts in the proband and at least one CBC in relatives to exclude similar disorders. Genetic counseling requires specific histories as well as CBCs of each family member at risk to determine status regardless of symptom history, especially to assess apparent new mutations.

Case report: Autosomal dominant non-epidermolytic palmoplantar ...

African Journals Online (AJOL)

Palmoplantar keratoderma (PPK) is a hereditary cutaneous disorder characterized by a marked hyperkeratosis of the palms and soles. A variant that was inherited in an autosomal dominant form was highlighted in a 20-month-old girl-child. The proband was brought to the Paediatric Outpatient Department by her mother ...

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

Directory of Open Access Journals (Sweden)

Priyanka Kant

2013-01-01

Full Text Available Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”

Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease.

Science.gov (United States)

Rodriguez-Vieitez, Elena; Saint-Aubert, Laure; Carter, Stephen F; Almkvist, Ove; Farid, Karim; Schöll, Michael; Chiotis, Konstantinos; Thordardottir, Steinunn; Graff, Caroline; Wall, Anders; Långström, Bengt; Nordberg, Agneta

2016-03-01

mixed-effects models, fibrillar amyloid-β plaque deposition was first observed in the striatum of presymptomatic autosomal dominant Alzheimer's disease carriers from 17 years before expected symptom onset; at about the same time, astrocytosis was significantly elevated and then steadily declined. Diverging from the astrocytosis pattern, amyloid-β plaque deposition increased with disease progression. Glucose metabolism steadily declined from 10 years after initial amyloid-β plaque deposition. Patients with sporadic mild cognitive impairment who were (11)C-Pittsburgh compound B-positive at baseline showed increasing amyloid-β plaque deposition and decreasing glucose metabolism but, in contrast to autosomal dominant Alzheimer's disease carriers, there was no significant longitudinal decline in astrocytosis over time. The prominent initially high and then declining astrocytosis in autosomal dominant Alzheimer's disease carriers, contrasting with the increasing amyloid-β plaque load during disease progression, suggests astrocyte activation is implicated in the early stages of Alzheimer's disease pathology. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.

Electric Vehicles for Improved Operation of Power Systems with High Wind Power Penetration

OpenAIRE

Larsen, Esben; Chandrashekhara, Divya K; Østergaard, Jacob

2008-01-01

In a power system with a high share of wind energy the wind fluctuation causes a variation in the power generation, which must be compensated from other sources. The situation in Denmark with a penetration of more than 20% wind in yearly average is presented. The introduction of electric drive vehicles (EDV) as flexible loads can improve the system operation. Bidirectional power exchange through batteries (vehicle to grid) can be seen as a storage system in the grid. An analysis of possible e...

Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

Directory of Open Access Journals (Sweden)

Raghu Tanjore

2001-09-01

Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

A case of false mother included with 46 autosomal STR markers

OpenAIRE

Li, Li; Lin, Yuan; Liu, Yan; Zhu, Ruxin; Zhao, Zhenmin; Que, Tingzhi

2015-01-01

Background For solving a maternity case, 19 autosomal short tandem repeats (STRs) were amplified using the AmpF?STR? SinofilerTM kit and PowerPlex? 16 System. Additional 27 autosomal STR loci were analyzed using two domestic kits AGCU 21+1 and STRtyper-10G. The combined maternity index (CMI) was calculated to be 3.3???1013, but the putative mother denied that she had given birth to the child. In order to reach an accurate conclusion, further testing of 20 X-chromosomal short tandem repeats (X...

NREL/SCE High Penetration PV Integration Project: FY13 Annual Report

Energy Technology Data Exchange (ETDEWEB)

Mather, B. A.; Shah, S.; Norris, B. L.; Dise, J. H.; Yu, L.; Paradis, D.; Katiraei, F.; Seguin, R.; Costyk, D.; Woyak, J.; Jung, J.; Russell, K.; Broadwater, R.

2014-06-01

In 2010, the National Renewable Energy Laboratory (NREL), Southern California Edison (SCE), Quanta Technology, Satcon Technology Corporation, Electrical Distribution Design (EDD), and Clean Power Research (CPR) teamed to analyze the impacts of high penetration levels of photovoltaic (PV) systems interconnected onto the SCE distribution system. This project was designed specifically to benefit from the experience that SCE and the project team would gain during the installation of 500 megawatts (MW) of utility-scale PV systems (with 1-5 MW typical ratings) starting in 2010 and completing in 2015 within SCE's service territory through a program approved by the California Public Utility Commission (CPUC). This report provides the findings of the research completed under the project to date.

Long range surface plasmon resonance with ultra-high penetration depth for self-referenced sensing and ultra-low detection limit using diverging beam approach

Energy Technology Data Exchange (ETDEWEB)

Isaacs, Sivan, E-mail: sivan.isaacs@gmail.com; Abdulhalim, Ibrahim [Department of Electro-Optical Engineering and TheIlse Katz Institute for Nanoscale Science and Technology, Ben Gurion University of the Negev, Beer Sheva 84105 (Israel); NEW CREATE Programme, School of Materials Science and Engineering, 1 CREATE Way, Research Wing, #02-06/08, Singapore 138602 (Singapore)

2015-05-11

Using an insulator-metal-insulator structure with dielectric having refractive index (RI) larger than the analyte, long range surface plasmon (SP) resonance exhibiting ultra-high penetration depth is demonstrated for sensing applications of large bioentities at wavelengths in the visible range. Based on the diverging beam approach in Kretschmann-Raether configuration, one of the SP resonances is shown to shift in response to changes in the analyte RI while the other is fixed; thus, it can be used as a built in reference. The combination of the high sensitivity, high penetration depth and self-reference using the diverging beam approach in which a dark line is detected of the high sensitivity, high penetration depth, self-reference, and the diverging beam approach in which a dark line is detected using large number of camera pixels with a smart algorithm for sub-pixel resolution, a sensor with ultra-low detection limit is demonstrated suitable for large bioentities.

Revisiting long-run relations in power markets with high RES penetration

International Nuclear Information System (INIS)

Gianfreda, Angelica; Parisio, Lucia; Pelagatti, Matteo

2016-01-01

Electricity generation from renewable energy resources (RES) has become increasingly significant to reach EU and emissions reduction targets. At the same time, one of the main EU policy goals has been the creation of a common internal energy market for Europe. In this paper, we focus on these two issues previously studied separately, considering their possible interactions. We first analyze the long-run relationship between day-ahead electricity prices and fuel prices (natural gas and coal) looking at two samples of years characterized by low and high RES penetration, then we explore the integration of EU markets. We show that the electricity–fuel nexus found over 2006–2008 changed dramatically over 2010–2014 for the majority of countries considered. In particular, the long-run dependence of electricity from gas and coal prices is much lower in recent years. Furthermore, our results confirm that the considered EU countries are becoming less integrated as RES-E increases. Our findings suggest that nationally implemented policies to support renewables are successful in increasing RES penetration, but they have lessened the linkage among EU markets, then making integration more difficult to obtain. - Highlights: •RES lower the intra-daily electricity dependence from coal and natural gas. •RES affect the EU wholesale electricity market integration, studied at hourly level. •Overlapping national and supranational policies tackle the achievement of EU targets. •Strong policy coordination is required to avoid that the “greens” promote the “dirtiest”.

Europa Kinetic Ice Penetrator (EKIP)

Data.gov (United States)

National Aeronautics and Space Administration — The goal of the proposed work is to validate an initial design for a Europa penetrator that can withstand the high g load associated with the expected hypervelocity...

Improved Modeling Tools Development for High Penetration Solar

Energy Technology Data Exchange (ETDEWEB)

Washom, Byron [Univ. of California, San Diego, CA (United States); Meagher, Kevin [Power Analytics Corporation, San Diego, CA (United States)

2014-12-11

One of the significant objectives of the High Penetration solar research is to help the DOE understand, anticipate, and minimize grid operation impacts as more solar resources are added to the electric power system. For Task 2.2, an effective, reliable approach to predicting solar energy availability for energy generation forecasts using the University of California, San Diego (UCSD) Sky Imager technology has been demonstrated. Granular cloud and ramp forecasts for the next 5 to 20 minutes over an area of 10 square miles were developed. Sky images taken every 30 seconds are processed to determine cloud locations and cloud motion vectors yielding future cloud shadow locations respective to distributed generation or utility solar power plants in the area. The performance of the method depends on cloud characteristics. On days with more advective cloud conditions, the developed method outperforms persistence forecasts by up to 30% (based on mean absolute error). On days with dynamic conditions, the method performs worse than persistence. Sky Imagers hold promise for ramp forecasting and ramp mitigation in conjunction with inverter controls and energy storage. The pre-commercial Sky Imager solar forecasting algorithm was documented with licensing information and was a Sunshot website highlight.

Constitutional and acquired autosomal aneuploidy.

Science.gov (United States)

Jackson-Cook, Colleen

2011-12-01

Chromosomal imbalances can result from numerical or structural anomalies. Numerical chromosomal abnormalities are often referred to as aneuploid conditions. This article focuses on the occurrence of constitutional and acquired autosomal aneuploidy in humans. Topics covered include frequency, mosaicism, phenotypic findings, and etiology. The article concludes with a consideration of anticipated advances that might allow for the development of screening tests and/or lead to improvements in our understanding and management of the role that aneuploidy plays in the aging process and acquisition of age-related and constitutional conditions.

Penetration of hydrogen isotopes through EhI 698 alloy at high pressure and temperature

International Nuclear Information System (INIS)

Bystritskij, V.M.; Voznyak, Ya.; Granovskij, V.B.

1986-01-01

The paper deals with investigations of the process of hydrogen and deuterium penetration through the high-temperature alloy EhI-698 at a pressure up to 1 kbar and temperature up to 1050 K. Parameters of the process obey Sieverts's law and can be described by Arrenius's and Vant-Goff's equations. The obtained results lead to a conclusion that the alloy EhI-698 is good for vessels to be employed in hydrogen media

Technical impacts of high penetration levels of wind power on power system stability

OpenAIRE

Flynn, Damian; Rather, Z.; Ardal, Atle; Darco, Salvatore; Hansen, Anca Daniela; Cutululis, Nicolaos Antonio; Sørensen, Poul Ejnar; Estanqueiro, Ana; Gomez, Emilio; Menemenlis, Nickie; Smith, Charlie; Wang, Ye

2017-01-01

With increasing penetrations of wind generation, based on power-electronic converters, power systems are transitioning away from well-understood synchronous generator-based systems, with growing implications for their stability. Issues of concern will vary with system size, wind penetration level, geographical distribution and turbine type, network topology, electricity market structure, unit commitment procedures, and other factors. However, variable-speed wind turbines, both onshore and con...

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

Science.gov (United States)

Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

2012-01-01

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

Genetics Home Reference: autosomal dominant nocturnal frontal lobe epilepsy

Science.gov (United States)

... with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear ... Epilepsy Society Citizens United for Research in Epilepsy (CURE) GeneReviews (1 link) Autosomal Dominant Nocturnal Frontal Lobe ...

Genetics Home Reference: autosomal dominant leukodystrophy with autonomic disease

Science.gov (United States)

... have muscle stiffness (spasticity) or weakness and involuntary rhythmic shaking, called intention tremor because it worsens during ... Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides ...

Voltage magnitude and margin controller for remote industrial microgrid with high wind penetration

DEFF Research Database (Denmark)

Cai, Yu; Lin, Jin; Song, Yonghua

2013-01-01

It is well known that the remote industrial microgrid is located at the periphery of the grid, which is weakly connected to the main grid. In order to enhance the voltage stability and ensure a good power quality for industries, a voltage magnitude and margin controller based on wind turbines...... is proposed in this paper. This controller includes two parts to improve voltage stability in different time scales by using local measurements. Case studies conducted for a remote microgrid with high wind penetration have proved the effectiveness of the proposed control scheme....

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

Energy Technology Data Exchange (ETDEWEB)

Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay [Ondokuz Mayis University, Department of Radiology, School of Medicine, Kurupelit, Samsun (Turkey); Albayrak, Canan; Albayrak, Davut [Ondokuz Mayis University, Department of Pediatrics, School of Medicine, Kurupelit, Samsun (Turkey)

2017-05-15

Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

International Nuclear Information System (INIS)

Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay; Albayrak, Canan; Albayrak, Davut

2017-01-01

Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)

Physical Penetration Testing: A Whole New Story in Penetration Testing

NARCIS (Netherlands)

Dimkov, T.; Pieters, Wolter

2011-01-01

Physical penetration testing plays an important role in assuring a company that the security policies are properly enforced and that the security awareness of the employees is on the appropriate level. In physical penetration tests the tester physically enters restricted locations and directly

Akon - A Penetrator for Europa

Science.gov (United States)

Jones, Geraint

2016-04-01

Jupiter's moon Europa is one of the most intriguing objects in our Solar System. This 2000km-wide body has a geologically young solid water ice crust that is believed to cover a global ocean of liquid water. The presence of this ocean, together with a source of heating through tidal forces, make Europa a conceivable location for extraterrestrial life. The science case for exploring all aspects of this icy world is compelling. NASA has selected the Europa Mission (formerly Europa Clipper) to study Europa in detail in the 2020s through multiple flybys, and ESA's JUICE mission will perform two flybys of the body in the 2030s. The US agency has extended to the European Space Agency an invitation to provide a contribution to their mission. European scientists interested in Europa science and exploration are currently organizing themselves, in the framework of a coordinated Europa M5 Inititative to study concurrently the main options for this ESA contribution, from a simple addition of individual instruments to the NASA spacecraft, to a lander to investigate Europa's surface in situ. A high speed lander - a penetrator - is by far the most promising technology to achieve this latter option within the anticipated mass constraints, and studies of such a hard lander, many funded by ESA, are now at an advanced level. An international team to formally propose an Europa penetrator to ESA in response to the anticipated ESA M5 call is growing. The working title of this proposal is Akon (Άκων), named after the highly accurate javelin gifted to Europa by Zeus in ancient Greek mythology. We present plans for the Akon penetrator, which would impact Europa's surface at several hundred metres per second, and travel up to several metres into the moon's subsurface. To achieve this, the penetrator would be delivered to the surface by a dedicated descent module, to be destroyed on impact following release of the penetrator above the surface. It is planned that the instruments to be

The role of hydrogen in high wind energy penetration electricity systems: the Irish case

International Nuclear Information System (INIS)

Gonzalez, A.; McKeogh, E.; Gallachoir, B.O.

2004-01-01

The deployment of wind energy is constrained by wind uncontrollability, which poses operational problems on the electricity supply system at high penetration levels, lessening the value of wind-generated electricity to a significant extent. This paper studies the viability of hydrogen production via electrolysis using wind power that cannot be easily accommodated on the system. The potential benefits of hydrogen and its role in enabling a large penetration of wind energy are assessed, within the context of the enormous wind energy resource in Ireland. The exploitation of this wind resource may in the future give rise to significant amounts of surplus wind electricity, which could be used to produce hydrogen, the zero-emissions fuel that many experts believe will eventually replace fossil fuels in the transport sector. In this paper the operation of a wind powered hydrogen production system is simulated and optimised. The results reveal that, even allowing for significant cost-reductions in electrolyser and associated balance-of-plant equipment, low average surplus wind electricity cost and a high hydrogen market price are also necessary to achieve the economic viability of the technology. These conditions would facilitate the installation of electrolysis units of sufficient capacity to allow an appreciable increase in installed wind power in Ireland. The simulation model was also used to determine the CO 2 abatement potential associated with the wind energy/hydrogen production. (author)

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

Directory of Open Access Journals (Sweden)

Li Wang

2016-01-01

Full Text Available Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T was detected in gap junction protein alpha 3 genes (GJA3, which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L. The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.

Characterization of Large Structural Genetic Mosaicism in Human Autosomes

Science.gov (United States)

Machiela, Mitchell J.; Zhou, Weiyin; Sampson, Joshua N.; Dean, Michael C.; Jacobs, Kevin B.; Black, Amanda; Brinton, Louise A.; Chang, I-Shou; Chen, Chu; Chen, Constance; Chen, Kexin; Cook, Linda S.; Crous Bou, Marta; De Vivo, Immaculata; Doherty, Jennifer; Friedenreich, Christine M.; Gaudet, Mia M.; Haiman, Christopher A.; Hankinson, Susan E.; Hartge, Patricia; Henderson, Brian E.; Hong, Yun-Chul; Hosgood, H. Dean; Hsiung, Chao A.; Hu, Wei; Hunter, David J.; Jessop, Lea; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Robert; Kraft, Peter; Lan, Qing; Lin, Dongxin; Liu, Jianjun; Le Marchand, Loic; Liang, Xiaolin; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M.; Matsuo, Keitaro; Olson, Sara H.; Orlow, Irene; Park, Jae Yong; Pooler, Loreall; Prescott, Jennifer; Rastogi, Radhai; Risch, Harvey A.; Schumacher, Fredrick; Seow, Adeline; Setiawan, Veronica Wendy; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; VanDen Berg, David; Wang, Jiu-Cun; Wentzensen, Nicolas; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Yi-Long; Xia, Lucy; Yang, Hannah P.; Yang, Pan-Chyr; Zheng, Wei; Zhou, Baosen; Abnet, Christian C.; Albanes, Demetrius; Aldrich, Melinda C.; Amos, Christopher; Amundadottir, Laufey T.; Berndt, Sonja I.; Blot, William J.; Bock, Cathryn H.; Bracci, Paige M.; Burdett, Laurie; Buring, Julie E.; Butler, Mary A.; Carreón, Tania; Chatterjee, Nilanjan; Chung, Charles C.; Cook, Michael B.; Cullen, Michael; Davis, Faith G.; Ding, Ti; Duell, Eric J.; Epstein, Caroline G.; Fan, Jin-Hu; Figueroa, Jonine D.; Fraumeni, Joseph F.; Freedman, Neal D.; Fuchs, Charles S.; Gao, Yu-Tang; Gapstur, Susan M.; Patiño-Garcia, Ana; Garcia-Closas, Montserrat; Gaziano, J. Michael; Giles, Graham G.; Gillanders, Elizabeth M.; Giovannucci, Edward L.; Goldin, Lynn; Goldstein, Alisa M.; Greene, Mark H.; Hallmans, Goran; Harris, Curtis C.; Henriksson, Roger; Holly, Elizabeth A.; Hoover, Robert N.; Hu, Nan; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Koh, Woon-Puay; Kolonel, Laurence N.; Kooperberg, Charles; Krogh, Vittorio; Kurtz, Robert C.; LaCroix, Andrea; Landgren, Annelie; Landi, Maria Teresa; Li, Donghui; Liao, Linda M.; Malats, Nuria; McGlynn, Katherine A.; McNeill, Lorna H.; McWilliams, Robert R.; Melin, Beatrice S.; Mirabello, Lisa; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M.; Prokunina-Olsson, Ludmila; Purdue, Mark; Qiao, You-Lin; Rabe, Kari G.; Rajaraman, Preetha; Real, Francisco X.; Riboli, Elio; Rodríguez-Santiago, Benjamín; Rothman, Nathaniel; Ruder, Avima M.; Savage, Sharon A.; Schwartz, Ann G.; Schwartz, Kendra L.; Sesso, Howard D.; Severi, Gianluca; Silverman, Debra T.; Spitz, Margaret R.; Stevens, Victoria L.; Stolzenberg-Solomon, Rachael; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R.; Teras, Lauren R.; Tobias, Geoffrey S.; Viswanathan, Kala; Wacholder, Sholom; Wang, Zhaoming; Weinstein, Stephanie J.; Wheeler, William; White, Emily; Wiencke, John K.; Wolpin, Brian M.; Wu, Xifeng; Wunder, Jay S.; Yu, Kai; Zanetti, Krista A.; Zeleniuch-Jacquotte, Anne; Ziegler, Regina G.; de Andrade, Mariza; Barnes, Kathleen C.; Beaty, Terri H.; Bierut, Laura J.; Desch, Karl C.; Doheny, Kimberly F.; Feenstra, Bjarke; Ginsburg, David; Heit, John A.; Kang, Jae H.; Laurie, Cecilia A.; Li, Jun Z.; Lowe, William L.; Marazita, Mary L.; Melbye, Mads; Mirel, Daniel B.; Murray, Jeffrey C.; Nelson, Sarah C.; Pasquale, Louis R.; Rice, Kenneth; Wiggs, Janey L.; Wise, Anastasia; Tucker, Margaret; Pérez-Jurado, Luis A.; Laurie, Cathy C.; Caporaso, Neil E.; Yeager, Meredith; Chanock, Stephen J.

2015-01-01

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10−31) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population. PMID:25748358

HMO penetration and the geographic mobility of practicing physicians.

Science.gov (United States)

Polsky, D; Kletke, P R; Wozniak, G D; Escarce, J J

2000-09-01

In this study, we assessed the influence of changes in health maintenance organization (HMO) penetration on the probability that established patient care physicians relocated their practices or left patient care altogether. For physicians who relocated their practices, we also assessed the impact of HMO penetration on their destination choices. We found that larger increases in HMO penetration decreased the probability that medical/surgical specialists in early career stayed in patient care in the same market, but had no impact on generalists, hospital-based specialists, or mid career medical/surgical specialists. We also found that physicians who relocated their practices were much more likely to choose destination markets with the same level of HMO penetration or lower HMO penetration compared with their origin markets than they were to choose destination markets with higher HMO penetration. The largely negligible impact of changes in HMO penetration on established physicians' decisions to relocate their practices or leave patient care is consistent with high relocation and switching costs. Relocating physicians' attraction to destination markets with the same level of HMO penetration as their origin markets suggests that, while physicians' styles of medical practice may adapt to changes in market conditions, learning new practice styles is costly.

A Study on Factors Affecting Airborne LiDAR Penetration

Directory of Open Access Journals (Sweden)

Wei-Chen Hsu

2015-01-01

Full Text Available This study uses data from different periods, areas and parameters of airborne LiDAR (light detection and ranging surveys to understand the factors that influence airborne LiDAR penetration rate. A discussion is presented on the relationships between these factors and LiDAR penetration rate. The results show that the flight height above ground level (AGL does not have any relationship with the penetration rate. There are some factors that should have larger influence. For example, the laser is affected by a wet ground surface by reducing the number of return echoes. The field of view (FOV has a slightly negative correlation with the penetration rate, which indicates that the laser incidence angle close to zero should achieve the best penetration. The vegetation cover rate also shows a negative correlation with the penetration rate, thus bare ground and reduced vegetation in the aftermath of a typhoon also cause high penetration rate. More return echoes could be extracted from the full-waveform system, thereby effectively improving the penetration rate. This study shows that full-waveform LiDAR is an effective method for increasing the number of surface reflected echoes. This study suggests avoiding LiDAR survey employment directly following precipitation to prevent laser echo reduction.

Quantitative assessment of liquid Ga penetration into an aluminium alloy by high-resolution X-ray tomography

International Nuclear Information System (INIS)

Ohgaki, T.; Toda, H.; Sinclair, I.; Buffiere, J.-Y.; Ludwig, W.; Kobayashi, T.; Niinomi, M.; Akahori, T.

2005-01-01

We have evaluated the liquid Ga penetration into an aluminium alloy by high-resolution X-ray tomography. The 3D visualization of a crack together with its surrounding grain structure was performed with the help of the Ga penetration technique. It is found that the advance directions of the crack-tip were strongly influenced by the grain microstructure and the branching of the crack is affected by grain distribution. In this study, the liquid Ga not only acts as a contrast agent for grain boundaries, but also expands the volume of the Al alloy due to Ga diffusion and associated processes. The 3D strain between the grains has been determined by microstructural gauging technique, which uses micropores as marker points. The 3D expansion of the sample volume, the volume reduction of micropores and the brittle fracture were evidently observed

Rapid penetration into granular media visualizing the fundamental physics of rapid earth penetration

CERN Document Server

Iskander, Magued

2015-01-01

Rapid Penetration into Granular Media: Visualizing the Fundamental Physics of Rapid Earth Penetration introduces readers to the variety of methods and techniques used to visualize, observe, and model the rapid penetration of natural and man-made projectiles into earth materials. It provides seasoned practitioners with a standard reference that showcases the topic's most recent developments in research and application. The text compiles the findings of new research developments on the subject, outlines the fundamental physics of rapid penetration into granular media, and assembles a com

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

DEFF Research Database (Denmark)

White, Janson; Mazzeu, Juliana F; Hoischen, Alexander

2015-01-01

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical ...

Genetics Home Reference: autosomal dominant congenital stationary night blindness

Science.gov (United States)

... collapse boxes. Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

Genetics Home Reference: autosomal recessive congenital stationary night blindness

Science.gov (United States)

... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease: Utility and Limitations

Science.gov (United States)

Zhao, Xiao; Paterson, Andrew D.; Zahirieh, Alireza; He, Ning; Wang, Kairong; Pei, York

2008-01-01

Background and objectives: Gene-based mutation screening is now available and has the potential to provide diagnostic confirmation or exclusion of autosomal dominant polycystic kidney disease. This study illustrates its utility and limitations in the clinical setting. Design, setting, participants, & measurements: Using a molecular diagnostic service, genomic DNA of one affected individual from each study family was screened for pathologic PKD1 and PKD2 mutations. Bidirectional sequencing was performed to identify sequence variants in all exons and splice junctions of both genes and to confirm the specific mutations in other family members. In two multiplex families, microsatellite markers were genotyped at both PDK1 and PKD2 loci, and pair-wise and multipoint linkage analysis was performed. Results: Three of five probands studied were referred for assessment of renal cystic disease without a family history of autosomal dominant polycystic kidney disease, and two others were younger at-risk members of families with autosomal dominant polycystic kidney disease being evaluated as living-related kidney donors. Gene-based mutation screening identified pathogenic mutations that provided confirmation or exclusion of disease in three probands, but in the other two, only unclassified variants were identified. In one proband in which mutation screening was indeterminate, DNA linkage studies provided strong evidence for disease exclusion. Conclusions: Gene-based mutation screening or DNA linkage analysis should be considered in individuals in whom the diagnosis of autosomal dominant polycystic kidney disease is uncertain because of a lack of family history or equivocal imaging results and in younger at-risk individuals who are being evaluated as living-related kidney donors. PMID:18077784

Static Equivalent of Distribution Grids With High Penetration of PV Systems

DEFF Research Database (Denmark)

Samadi, Afshin; Söder, Lennart; Shayesteh, Ebrahim

2015-01-01

High penetrations of photovoltaic (PV) systems within load pockets in distribution grids have changed pure consumers to prosumers. This can cause technical challenges in distribution and transmission grids, such as overvoltage and reverse power flow. Embedding voltage support schemes into PVs...... equivalent that can fairly capture the dominant behavior of the distribution grids. The aim of this paper is to use gray-box modeling concepts to develop a static equivalent of distribution grids comprising a large number of PV systems embedded with voltage support schemes. In the proposed model, the PV...... systems are aggregated as a separate entity, and not as a negative load, which is traditionally done. The results demonstrate the superior quality of the proposed model compared with the model with PV systems as the negative load....

Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.

NARCIS (Netherlands)

Heuvel, L.P.W.J. van den; Koul, K. Op de; Knots, E.; Knoers, N.V.A.M.; Monnens, L.A.H.

2001-01-01

BACKGROUND: At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with hypercalciuria (HHRH) is unknown. Type II sodium/phosphate cotransporter (NPT2) gene is a serious candidate for being the causative gene in either or both autosomal recessive and

Perinatal market penetration rate. A tool to evaluate regional perinatal programs.

Science.gov (United States)

Powers, W F; McGill, L

1987-01-01

Very small babies born in tertiary centers fare better than outborn babies referred for tertiary care after birth. Viewing the 1001-1500 gm regional cohort of fetuses as a potential "market" for center delivery, and measuring a center's penetration into this market, quantitates how well a center draws to itself these small, high-risk fetuses for delivery. An Illinois center's annual penetration rate into its regional market for the years 1973-1983 is presented and significant increases are found. The penetration rates of nine Illinois perinatal centers are calculated and wide discrepancies are found. Defining a high-risk regional cohort as a market stresses a perinatal center's obligation to its region. The penetration rate into a defined market measures how well a center fulfills this obligation.

The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

Science.gov (United States)

Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin; Mæhle, Lovise; Stormorken, Astrid; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche

2014-01-01

Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was to examine the sensitivity of IHC and microsatellite instability-analysis (MSI) to identify carriers of the mutation, and to estimate its penetrance and expressions. All carriers and obligate carriers of the mutation were identified. All cancer diagnoses were confirmed. IHC and MSI-analysis were performed on available tumours. Penetrances of cancers included in the Amsterdam and the Bethesda Criteria, for MSI-high tumours and MSI-high and low tumours were calculated by the Kaplan-Meier algorithm. Probability for co-segregation of the mutation and cancers by chance was 0.000004. Fifty-six carriers or obligate carriers were identified. There was normal staining for PMS2 in 15/18 (83.3%) of tumours included in the AMS1/AMS2/Bethesda criteria. MSI-analysis showed that 15/21 (71.4%) of tumours were MSI-high and 4/21 (19.0%) were MSI-low. Penetrance at 70 years was 30.6% for AMS1 cancers (colorectal cancers), 42.8% for AMS2 cancers, 47.2% for Bethesda cancers, 55.6% for MSI-high and MSI-low cancers and 52.2% for MSI-high cancers. The mutation met class 5 criteria for pathogenicity. IHC was insensitive in detecting tumours caused by the mutation. Penetrance of cancers that displayed MSI was 56% at 70 years. Besides colorectal cancers, the most frequent expressions were carcinoma of the endometrium and breast in females and stomach and prostate in males.

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Science.gov (United States)

Konersman, Chamindra G; Freyermuth, Fernande; Winder, Thomas L; Lawlor, Michael W; Lagier-Tourenne, Clotilde; Patel, Shailendra B

2017-11-01

Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM. This extended family is of historical importance as some members were reported in the 1960s as initial evidence that NEM is a hereditary disorder. Proband and extended family underwent Sanger sequencing for TNNT1. We performed RT-PCR and immunoblot on muscle to assess TNNT1 RNA expression and protein levels in proband and father. We report a novel heterozygous missense mutation of TNNT1 c.311A>T (p.E104V) that segregated in an autosomal dominant fashion in a large family residing in the United States. Extensive sequencing of the other known genes for NEM failed to identify any other mutant alleles. Muscle biopsies revealed a characteristic pattern of nemaline rods and severe myofiber hypotrophy that was almost entirely restricted to the type 1 fiber population. This novel mutation alters a residue that is highly conserved among vertebrates. This report highlights not only a family with autosomal dominant inheritance of NEM, but that this novel mutation likely acts via a dominant negative mechanism. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Penetrating Cardiac and Hepatic Injury; Polytrauma of a Child After Bombing

Directory of Open Access Journals (Sweden)

Baris Akca

2013-10-01

Full Text Available After a bombing attack, patients were brought into hospital suffering from a combination of injuries caused by the blast, penetrating injuries and burns which as a case of polytrauma. In penetrating thoracoabdominal injuries due to bombing possibility of cardiac injury should be kept in mind. Penetrating cardiac injuries in children are rare but has a high mortality and morbidity. In some cases there may be difficulty in diagnosis of penetrating cardiac injury. In this case we want to share the diagnosis, treatment and follow-up processes of penetrating cardiac and hepatic injury with burns of a politrauma child due to bombing.

Risk assessment of electric generation systems with high wind penetration

International Nuclear Information System (INIS)

Salgado Duarte, Yorlandys; Castillo Serpa, Alfredo M. del

2017-01-01

The research evaluates the risk function of an Electric Generation System (SGE) with high wind power penetration using the Sequential Monte Carlo Simulation (SMCS) method, which allows calculating indicators that characterize the performance of the SGE with expected average values. The research uses a Markov model of two states or four states according to the characteristics of the generator to simulate the instantaneous capacity. The primary sources of each conventional generator are assumed to be always available; however, wind power depends on the wind behavior in each analyzed region. In this research, the Chronological Series and Weibull models are used to model the wind behavior, and the analyzes are performed in the IEEE-RTS system. The work shows that the behavior of the probabilistic indicators used to analyze the static capacity of the SGE is determined by the model used to simulate the stochastic of the generators and by the primary energy source. (author)

Application of Uintah-MPM to shaped charge jet penetration of aluminum

International Nuclear Information System (INIS)

Burghardt, J; Leavy, B; Brannon, R; Guilkey, J; Xue, Z

2010-01-01

The capability of the generalized interpolation material point (GIMP) method in simulation of penetration events is investigated. A series of experiments was performed wherein a shaped charge jet penetrates into a stack of aluminum plates. Electronic switches were used to measure the penetration time history. Flash x-ray techniques were used to measure the density, length, radius and velocity of the shaped charge jet. Simulations of the penetration event were performed using the Uintah MPM/GIMP code with several different models of the shaped charge jet being used. The predicted penetration time history for each jet model is compared with the experimentally observed penetration history. It was found that the characteristics of the predicted penetration were dependent on the way that the jet data are translated to a discrete description. The discrete jet descriptions were modified such that the predicted penetration histories fell very close to the range of the experimental data. In comparing the various discrete jet descriptions it was found that the cumulative kinetic energy flux curve represents an important way of characterizing the penetration characteristics of the jet. The GIMP method was found to be well suited for simulation of high rate penetration events.

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

NARCIS (Netherlands)

Paznekas, W.A.; Karczeski, B.; Vermeer, S.; Lowry, R.B.; Delatycki, M.; Laurence, F.; Koivisto, P.A.; Maldergem, L. van; Boyadjiev, S.A.; Bodurtha, J.N.; Jabs, E.W.

2009-01-01

The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial

Double ionization chamber survey meter for the separate measurement of penetrating and non-penetrating dose

International Nuclear Information System (INIS)

Lucas, A.C.

1987-01-01

The full capabilities of an advanced 8-bit microprocessor have been utilized in construction of a wide range, multiplexing survey meter based on dual electrometers and ionization chambers. The ionization chambers are constructed of modular conducting and non-conducting parts in such a way that the angular dependence for measurement of beta radiation is controlled by design. Display functions for the high range instrument include logarithmic or linear analog display, digital display of rate or dose, SI or English units, optionally for either total, penetrating, or non-penetrating dose. The instrument is presently configured to operate in the range 0.1 R/hr to 50,000 R/hr in support of the requirements of Regulatory Guide 19.7

Price Forecasting of Electricity Markets in the Presence of a High Penetration of Wind Power Generators

Directory of Open Access Journals (Sweden)

Saber Talari

2017-11-01

Full Text Available Price forecasting plays a vital role in the day-ahead markets. Once sellers and buyers access an accurate price forecasting, managing the economic risk can be conducted appropriately through offering or bidding suitable prices. In networks with high wind power penetration, the electricity price is influenced by wind energy; therefore, price forecasting can be more complicated. This paper proposes a novel hybrid approach for price forecasting of day-ahead markets, with high penetration of wind generators based on Wavelet transform, bivariate Auto-Regressive Integrated Moving Average (ARIMA method and Radial Basis Function Neural Network (RBFN. To this end, a weighted time series for wind dominated power systems is calculated and added to a bivariate ARIMA model along with the price time series. Moreover, RBFN is applied as a tool to correct the estimation error, and particle swarm optimization (PSO is used to optimize the structure and adapt the RBFN to the particular training set. This method is evaluated on the Spanish electricity market, which shows the efficiency of this approach. This method has less error compared with other methods especially when it considers the effects of large-scale wind generators.

Penetrating ocular trauma from trampoline spring.

Science.gov (United States)

Spokes, David; Siddiqui, Salina; Vize, Colin

2010-02-01

The case is presented of a 12-year old boy who sustained severe penetrating ocular trauma while playing on a domestic trampoline. A main spring broke under tension and the hook had struck the eye at high velocity and penetrated the sclera. Primary repair was undertaken but on review it became apparent the eye could not be salvaged. Evisceration was carried out and an orbital implant was placed. Post-operative cosmesis is acceptable. This type of injury has not been reported before. Adult supervision of children on trampolines is recommended to minimise the chance of serious injury.

Development Of The Nuclear Optical Penetration

Science.gov (United States)

Inoue, K.; Koike, K.; Imada, Y.

1984-10-01

We have developed the nuclear optical penetration to be incorporated in the wall penetration of the shell to introduce a data transmission system using optical fibers into a nuclear power plant with a pressurized water reactor. Radiation-induced coloration in optical glass seriously affects transmission characteristics of optical fibers, whereas it has been revealed that the pure-silica core optical fiber without any dopant in the core has wide applicability in radiation fields thanks to its very low radiation-induced attenuation. The wall penetration of the shell should have airtightness and resistivity to heat, vibration, and pressure, let alone radiation, excellent enough to be invariable in data transmission efficiency even when subjected to severe environmental tests. The sealing modules of this newly developed nuclear optical penetration are hermetically sealed. The gap between the optical fiber rod (100 pm in core diameter and 5 mm in rod diameter) and stainless steel tube is sealed with lamingted glass layer. As the result of He gas leakage test, high airtightness of less than 10 cc/sec was achieved. No thermal deformation of the core was caused by sealing with laminated glass layer, nor was observed transmission loss. Then the sealiing modules were subjected to the irradiation test using 60 Co gamma ray exposure of 2 x 10 rads. Though silica glass layer supporting the fiber rod and sealing glass portion turned blackish purple, transparency of the fiber was not affected. Only less than 0.5 dB of connecting loss was observed at the connecting point with the optical fiber cable. The sealing modules were also found to have resistivity to vibration and pressure as excellent as that of existing nuclear electric penetrations. We expect the nuclear optical fiber penetration will be much effective in improving reliability of data transmission systems using optical fibers in radiation fields.

Tumor penetrating peptides

Directory of Open Access Journals (Sweden)

Tambet eTeesalu

2013-08-01

Full Text Available Tumor-homing peptides can be used to deliver drugs into tumors. Phage library screening in live mice has recently identified homing peptides that specifically recognize the endothelium of tumor vessels, extravasate, and penetrate deep into the extravascular tumor tissue. The prototypic peptide of this class, iRGD (CRGDKGPDC, contains the integrin-binding RGD motif. RGD mediates tumor homing through binding to αv integrins, which are selectively expressed on various cells in tumors, including tumor endothelial cells. The tumor-penetrating properties of iRGD are mediated by a second sequence motif, R/KXXR/K. This C-end Rule (or CendR motif is active only when the second basic residue is exposed at the C-terminus of the peptide. Proteolytic processing of iRGD in tumors activates the cryptic CendR motif, which then binds to neuropilin-1 activating an endocytic bulk transport pathway through tumor tissue. Phage screening has also yielded tumor-penetrating peptides that function like iRGD in activating the CendR pathway, but bind to a different primary receptor. Moreover, novel tumor-homing peptides can be constructed from tumor-homing motifs, CendR elements and protease cleavage sites. Pathologies other than tumors can be targeted with tissue-penetrating peptides, and the primary receptor can also be a vascular zip code of a normal tissue. The CendR technology provides a solution to a major problem in tumor therapy, poor penetration of drugs into tumors. The tumor-penetrating peptides are capable of taking a payload deep into tumor tissue in mice, and they also penetrate into human tumors ex vivo. Targeting with these peptides specifically increases the accumulation in tumors of a variety of drugs and contrast agents, such as doxorubicin, antibodies and nanoparticle-based compounds. Remarkably the drug to be targeted does not have to be coupled to the peptide; the bulk transport system activated by the peptide sweeps along any compound that is

Measurement of Skin Permeation/Penetration of Nanoparticles for Their Safety Evaluation

OpenAIRE

木村, 恵理子; 河野, 雄一郎; 藤堂, 浩明; 五十嵐, 良明; 杉林, 堅次

2012-01-01

The aim of the present study was to quantitatively evaluate the skin permeation/penetration of nanomaterials and to consider their penetration pathway through skin. Firstly, penetration/permeation of a model fluorescent nanoparticle, Fluoresbrite?, was determined through intact rat skin and several damaged skins. Fluoresbrite? permeated through only needle-punctured skin. The permeation profiles of soluble high molecular compounds, fluorescein isothiocyanate-dextrans (FITC-dextrans, FDs), wit...

Deep ocean model penetrator experiments

International Nuclear Information System (INIS)

Freeman, T.J.; Burdett, J.R.F.

1986-01-01

Preliminary trials of experimental model penetrators in the deep ocean have been conducted as an international collaborative exercise by participating members (national bodies and the CEC) of the Engineering Studies Task Group of the Nuclear Energy Agency's Seabed Working Group. This report describes and gives the results of these experiments, which were conducted at two deep ocean study areas in the Atlantic: Great Meteor East and the Nares Abyssal Plain. Velocity profiles of penetrators of differing dimensions and weights have been determined as they free-fell through the water column and impacted the sediment. These velocity profiles are used to determine the final embedment depth of the penetrators and the resistance to penetration offered by the sediment. The results are compared with predictions of embedment depth derived from elementary models of a penetrator impacting with a sediment. It is tentatively concluded that once the resistance to penetration offered by a sediment at a particular site has been determined, this quantity can be used to sucessfully predict the embedment that penetrators of differing sizes and weights would achieve at the same site

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

DEFF Research Database (Denmark)

Winkelmann, Juliane; Lin, Ling; Schormair, Barbara

2012-01-01

to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21......Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT...

Thermo-chemical Ice Penetrator for Icy Moons

Science.gov (United States)

Arenberg, J. W.; Lee, G.; Harpole, G.; Zamel, J.; Sen, B.; Ross, F.; Retherford, K. D.

2016-12-01

The ability to place sensors or to take samples below the ice surface enables a wide variety of potential scientific investigations. Penetrating an ice cap can be accomplished via a mechanical drill, laser drill, kinetic impactor, or heated penetrator. This poster reports on the development of technology for the latter most option, namely a self-heated probe driven by an exothermic chemical reaction: a Thermo-chemical ice penetrator (TChIP). Our penetrator design employs a eutectic mix of alkali metals that produce an exothermic reaction upon contact with an icy surface. This reaction increases once the ice starts melting, so no external power is required. This technology is inspired by a classified Cold-War era program developed at Northrop Grumman for the US Navy. Terrestrial demonstration of this technology took place in the Arctic; however, this device cannot be considered high TRL for application at the icy moons of the solar system due to the environmental differences between Earth's Arctic and the icy moons. These differences demand a TChIP design specific to these cold, low mass, airless worlds. It is expected that this model of TChIP performance will be complex, incorporating all of the forces on the penetrator, gravity, the thermo-chemistry at the interface between penetrator and ice, and multi-phase heat and mass transport, and hydrodynamics. Our initial efforts are aimed at the development of a validated set of tools and simulations to predict the performance of the penetrator for both the environment found on these icy moons and for a terrestrial environment. The purpose of the inclusion of the terrestrial environment is to aid in model validation. Once developed and validated, our models will allow us to design penetrators for a specific scientific application on a specific body. This poster discusses the range of scientific investigations that are enabled by TChIP. We also introduce the development plan to advance TChIP to the point where it can be

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2013-03-01

Conclusion: Recurrent autosomal dominant OI may occur in the offspring of unaffected parents with parental gonadal mosaicism. Genetic counseling of recurrent autosomal dominant OI should include a thorough mutational analysis of the family members, and mutational analysis of the sperm may detect paternal gonadal mosaicism for the mutation.

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

Science.gov (United States)

Rohena, Luis; Kuehn, Devon; Marchegiani, Shannon; Higginson, Jason D

2011-04-01

Ablepharon-macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients. Additional anomalies include dry skin, growth retardation, hearing loss, camptodactyly, hypertelorism, absent zygomatic arches, and umbilical abnormalities. We present the second familial case of ablepharon-macrostomia syndrome in a newborn female and her 22-year-old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder. These cases likely represent the 16th and 17th reported cases of AMS and the first case suspected on prenatal ultrasound. Additionally, the child shows more prominent features of the disorder when compared to her father documenting variable expression and possible anticipation. This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2011 Wiley-Liss, Inc.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Science.gov (United States)

Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L.; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H.; Barsottini, Orlando G. P.; Kawarai, Toshitaka

2016-01-01

Abstract Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/ KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot–Marie–Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot–Marie–Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/ KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot–Marie–Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot–Marie–Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot–Marie-Tooth disease (CMT2A2/HMSN2A2/ MFN2 , CMT2B1/ LMNA , CMT2B2/ MED25 , CMT2B5/ NEFL , ARCMT2F/dHMN2B/ HSPB1 , CMT2K/ GDAP1 , CMT2P/ LRSAM1 , CMT2R/ TRIM2 , CMT2S/ IGHMBP2 , CMT2T/ HSJ1 , CMTRID/ COX6A1 , ARAN-NM/ HINT and GAN/ GAN ), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/ PGN , SPG15/ ZFYVE26, SPG21/ ACP33 , SPG35/ FA2H , SPG46/ GBA2 , SPG55/ C12orf65 and SPG56/ CYP2U1 ), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum ( SLC12A6 ) . Mitochondrial disorders related to Charcot–Marie–Tooth disease type 2 were also excluded by sequencing POLG and

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Science.gov (United States)

Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

2016-01-01

Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot

Mixed-Penetrant Sorption in Ultrathin Films of Polymer of Intrinsic Microporosity PIM-1.

Science.gov (United States)

Ogieglo, Wojciech; Furchner, Andreas; Ghanem, Bader; Ma, Xiaohua; Pinnau, Ingo; Wessling, Matthias

2017-11-02

Mixed-penetrant sorption into ultrathin films of a superglassy polymer of intrinsic microporosity (PIM-1) was studied for the first time by using interference-enhanced in situ spectroscopic ellipsometry. PIM-1 swelling and the concurrent changes in its refractive index were determined in ultrathin (12-14 nm) films exposed to pure and mixed penetrants. The penetrants included water, n-hexane, and ethanol and were chosen on the basis of their significantly different penetrant-penetrant and penetrant-polymer affinities. This allowed studying microporous polymer responses at diverse ternary compositions and revealed effects such as competition for the sorption sites (for water/n-hexane or ethanol/n-hexane) or enhancement in sorption of typically weakly sorbing water in the presence of more highly sorbing ethanol. The results reveal details of the mutual sorption effects which often complicate comprehension of glassy polymers' behavior in applications such as high-performance membranes, adsorbents, or catalysts. Mixed-penetrant effects are typically very challenging to study directly, and their understanding is necessary owing to a broadly recognized inadequacy of simple extrapolations from measurements in a pure component environment.

Production price of hydrogen from grid connected electrolysis in a power market with high wind penetration

International Nuclear Information System (INIS)

Joergensen, Claus; Ropenus, Stephanie

2008-01-01

In liberalized power markets, there are significant power price fluctuations due to independently varying changes in demand and supply, the latter being substantial in systems with high wind power penetration. In such systems, hydrogen production by grid connected electrolysis can be cost optimized by operating an electrolyzer part time. This paper presents a study on the minimization of the hydrogen production price and its dependence on estimated power price fluctuations. The calculation of power price fluctuations is based on a parameterization of existing data on wind power production, power consumption and power price evolution in the West Danish power market area. The price for hydrogen is derived as a function of the optimal electrolyzer operation hours per year for four different wind penetration scenarios. It is found to amount to 0.41-0.45 EUR/Nm 3 . The study further discusses the hydrogen price sensitivity towards investment costs and the contribution from non-wind power sources. (author)

Production price of hydrogen from grid connected electrolysis in a power market with high wind penetration

Energy Technology Data Exchange (ETDEWEB)

Joergensen, Claus [Materials Research Department, Risoe National Laboratory for Sustainable Energy, Technical University of Denmark, P.O. Box 49, Frederiksborgvej 399, DK-4000 Roskilde (Denmark); Ropenus, Stephanie [Systems Analysis Department, Risoe National Laboratory for Sustainable Energy, Technical University of Denmark, P.O. Box 49, Frederiksborgvej 399, DK-4000 Roskilde (Denmark)

2008-10-15

In liberalized power markets, there are significant power price fluctuations due to independently varying changes in demand and supply, the latter being substantial in systems with high wind power penetration. In such systems, hydrogen production by grid connected electrolysis can be cost optimized by operating an electrolyzer part time. This paper presents a study on the minimization of the hydrogen production price and its dependence on estimated power price fluctuations. The calculation of power price fluctuations is based on a parameterization of existing data on wind power production, power consumption and power price evolution in the West Danish power market area. The price for hydrogen is derived as a function of the optimal electrolyzer operation hours per year for four different wind penetration scenarios. It is found to amount to 0.41-0.45 EUR/Nm{sup 3}. The study further discusses the hydrogen price sensitivity towards investment costs and the contribution from non-wind power sources. (author)

Production price of hydrogen from grid connected electrolysis in a power market with high wind penetration.

Energy Technology Data Exchange (ETDEWEB)

Joergensen, Claus [Materials Research Department, Risoe National Laboratory for Sustainable Energy, Technical University of Denmark, P.O. Box 49, Frederiksborgvej 399, DK-4000 Roskilde (Denmark); Ropenus, Stephanie [Systems Analysis Department, Risoe National Laboratory for Sustainable Energy, Technical University of Denmark, P.O. Box 49, Frederiksborgvej 399, DK-4000 Roskilde (Denmark)

2008-10-15

In liberalized power markets, there are significant power price fluctuations due to independently varying changes in demand and supply, the latter being substantial in systems with high wind power penetration. In such systems, hydrogen production by grid connected electrolysis can be cost optimized by operating an electrolyzer part time. This paper presents a study on the minimization of the hydrogen production price and its dependence on estimated power price fluctuations. The calculation of power price fluctuations is based on a parameterization of existing data on wind power production, power consumption and power price evolution in the West Danish power market area. The price for hydrogen is derived as a function of the optimal electrolyzer operation hours per year for four different wind penetration scenarios. It is found to amount to 0.41-0.45 EUR/Nm{sup 3}. The study further discusses the hydrogen price sensitivity towards investment costs and the contribution from non-wind power sources. (author)

A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.

Science.gov (United States)

Grover, Sandeep; Fishman, Gerald A; Stone, Edwin M

2004-10-01

To define ophthalmic findings in a family with autosomal dominant retinitis pigmentosa and a novel IMPDH1 gene mutation. Genetic and observational family study. Sixteen affected members of a family with autosomal dominant retinitis pigmentosa. Ophthalmic examination, including best-corrected visual acuity (VA), slit-lamp biomicroscopy, direct and indirect ophthalmoscopy, Goldmann kinetic perimetry, and electroretinography were performed. Deoxyribonucleic acid single-strand conformation polymorphism (SSCP) analysis was done. Abnormal polymerase chain reaction products identified by SSCP analysis were sequenced bidirectionally. All affected patients had the onset of night blindness within the first decade of life. Ocular findings were characterized by diffuse retinal pigmentary degenerative changes, marked restriction of peripheral visual fields, severe loss of VA, nondetectable electroretinography amplitudes, and a high frequency of posterior subcapsular lens opacities. Affected members were observed to harbor a novel IMPDH1 gene mutation. A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. Families affected with a severe form of this genetic subtype should be investigated for a mutation in the IMPDH1 gene.

Current Understanding of Physicochemical Mechanisms for Cell Membrane Penetration of Arginine-rich Cell Penetrating Peptides: Role of Glycosaminoglycan Interactions.

Science.gov (United States)

Takechi-Haraya, Yuki; Saito, Hiroyuki

2018-01-01

Arginine-rich cell penetrating peptides (CPPs) are very promising drug carriers to deliver membrane-impermeable pharmaceuticals, such as siRNA, bioactive peptides and proteins. CPPs directly penetrate into cells across cell membranes via a spontaneous energy-independent process, in which CPPs appear to interact with acidic lipids in the outer leaflet of the cell membrane. However, acidic lipids represent only 10 to 20% of the total membrane lipid content and in mammalian cell membranes they are predominantly located in the inner leaflet. Alternatively, CPPs favorably bind in a charge density- dependent manner to negatively charged, sulfated glycosaminoglycans (GAGs), such as heparan sulfate and chondroitin sulfate, which are abundant on the cell surface and are involved in many biological functions. We have recently demonstrated that the interaction of CPPs with sulfated GAGs plays a critical role in their direct cell membrane penetration: the favorable enthalpy contribution drives the high-affinity binding of arginine-rich CPPs to sulfated GAGs, initiating an efficient cell membrane penetration. The favorable enthalpy gain is presumably mainly derived from a unique property of the guanidino group of arginine residues forming multidentate hydrogen bonding with sulfate and carboxylate groups in GAGs. Such interactions can be accompanied with charge neutralization of arginine-rich CPPs, promoting their partition into cell membranes. This review summarizes the current understanding of the physicochemical mechanism for lipid membrane penetration of CPPs, and discusses the role of the GAG interactions on the cell membrane penetration of CPPs. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Penetrating chest injury: A miraculous life salvage

Directory of Open Access Journals (Sweden)

Santosh B Dalavi

2013-01-01

Full Text Available An unusual penetrating chest injury was caused by high velocity road traffic accident. An 18-year-old had a four wheeler accident and was brought in emergency department with a ′bamboo′ stick on the left side chest exiting through back. After the stabilization of vital parameters, an inter-costal tube drainage was done on the left side. Except the minor brochopleural fistula which healed by 10 th day, his recovery was uneventful. The outcome was consistent with current aggressive management of penetrating chest injuries. Management of penetrating chest injury involving pulmonary trauma is based on three principles. One is stabilization of hemodynamics of patient with proper clinical evaluation. Second, a mere intercostal tube drainage sufficient for majority of the cases. Third, post-operative active as well as passive physiotherapy is necessary for speedy recovery.

Measurement and modeling of the low-temperature penetration-depth anomaly in high-quality MgB{sub 2} thin films

Energy Technology Data Exchange (ETDEWEB)

Agassi, Y.D. [Naval Surface Warfare Center, Carderock Division, Bethesda, MD 20817 (United States); Oates, D.E., E-mail: OATES@LL.MIT.EDU [MIT-Lincoln Laboratory, Lexington, MA 02420 (United States); Moeckly, B.H. [STI, Inc. Santa Barbara, CA 93111 (United States)

2012-10-15

Based on our measurements of intermodulation distortion in MgB{sub 2}, we have previously proposed that the {pi} energy-gap in MgB{sub 2} entails six nodal lines [Y.D. Agassi, D.E. Oates, and B.H. Moeckly, Phys. Rev. B 80 (2009) 174522]. Here we report high-precision measurements in MgB{sub 2} stripline resonators that show an increase of the penetration depth as the temperature is decreased below 5 K. This increase is consistent with the Script-Small-L = 6 symmetry of the {pi} energy gap that we have proposed. We interpret the increase as a manifestation of Andreev surface-attached states that are associated with the nodal lines of the {pi} energy gap. Penetration-depth calculations are in good agreement with our data. To reconcile the present interpretation with existing literature, we review other penetration-depth data, magnetic-impurity and tunneling experiments, and data on the paramagnetic Meissner effect. We conclude that these data do not rule out the interpretation of our experimental data based on a nodal {pi} energy gap.

Review of Congestion Management Methods for Distribution Networks with High Penetration of Distributed Energy Resources

DEFF Research Database (Denmark)

Huang, Shaojun; Wu, Qiuwei; Liu, Zhaoxi

2014-01-01

This paper reviews the existing congestion management methods for distribution networks with high penetration of DERs documented in the recent research literatures. The congestion management methods for distribution networks reviewed can be grouped into two categories – market methods and direct...... control methods. The market methods consist of dynamic tariff, distribution capacity market, shadow price and flexible service market. The direct control methods are comprised of network reconfiguration, reactive power control and active power control. Based on the review of the existing methods...

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.

Science.gov (United States)

Ferlazzo, Edoardo; Striano, Pasquale; Italiano, Domenico; Calarese, Tiziana; Gasparini, Sara; Vanni, Nicola; Fruscione, Floriana; Genton, Pierre; Zara, Federico

2016-09-01

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides. The mutation decreased C18-ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.

Penetration portion shielding structure

International Nuclear Information System (INIS)

Hayashi, Katsumi; Narita, Hitoshi; Handa, Hiroyuki; Takeuchi, Jun; Tozuka, Fumio.

1994-01-01

Openings of a plurality of shieldings for penetration members are aligned to each other, and penetration members are inserted from the openings. Then, the openings of the plurality of shielding members are slightly displaced with each other to make the penetration portions into a helical configuration, so that leakage of radiation is reduced. Upon removal of the members, reverse operation is conducted. When a flowable shielding material is used, the penetration portions are constituted with two plates having previously formed openings and pipes for connecting the openings with each other and a vessel covering the entire of them. After passing the penetration members such as a cable, the relative position of the two plates is changed by twisting, to form a helical configuration which reduces radiation leakage. Since they are bent into the helical configuration, shielding performance is extremely improved compared with a case that radiation leakage is caused from an opening of a straight pipe. In addition, since they can be returned to straight pipes, attachment, detachment and maintenance can be conducted easily. (N.H.)

Efficiency of low versus high airline pressure in stunning cattle with a pneumatically powered penetrating captive bolt gun.

Science.gov (United States)

Oliveira, Steffan Edward Octávio; Gregory, Neville George; Dalla Costa, Filipe Antonio; Gibson, Troy John; Paranhos da Costa, Mateus José Rodrigues

2017-08-01

The efficiency of stunning cattle was assessed in 443 animals (304 pure Zebu and 139 crossbred cattle), being mainly mature bulls and cows. Cattle were stunned using a Jarvis pneumatically powered penetrating captive bolt gun operating with low (160-175psi, N=82) and high (190psi, N=363) airline pressure, which was within the manufactures specifications. Signs of brain function and the position of the shots on the heads were recorded after stunning. Velocity of the captive bolt and its physical parameters were calculated. Cattle shot with low pressures showed more rhythmic respiration (27 vs. 8%, P<0.001), less tongue protrusion (4 vs. 12%, P=0.03) and less masseter relaxation (22 vs. 48%, P<0.001). There was an increased frequency of shots in the ideal position when cattle were shot with the low compared to high airline pressures (15.3 vs. 3.1%). Bolt velocity and its physical parameters were significantly (P<0.01) higher when using high pressure. Airline pressures below 190psi are inappropriate when shooting adult Zebu beef cattle with pneumatically powered penetrating captive bolt guns. Copyright © 2017 Elsevier Ltd. All rights reserved.

The Effect and Mechanism of Transdermal Penetration Enhancement of Fu's Cupping Therapy: New Physical Penetration Technology for Transdermal Administration with Traditional Chinese Medicine (TCM) Characteristics.

Science.gov (United States)

Xie, Wei-Jie; Zhang, Yong-Ping; Xu, Jian; Sun, Xiao-Bo; Yang, Fang-Fang

2017-03-27

In this paper, a new type of physical penetration technology for transdermal administration with traditional Chinese medicine (TCM) characteristics is presented. Fu's cupping therapy (FCT), was established and studied using in vitro and in vivo experiments and the penetration effect and mechanism of FCT physical penetration technology was preliminarily discussed. With 1-(4-chlorobenzoyl)-5-methoxy-2-methylindole-3-ylacetic acid (indomethacin, IM) as a model drug, the establishment of high, medium, and low references was completed for the chemical permeation system via in vitro transdermal tests. Furthermore, using chemical penetration enhancers (CPEs) and iontophoresis as references, the percutaneous penetration effect of FCT for IM patches was evaluated using seven species of in vitro diffusion kinetics models and in vitro drug distribution; the IM quantitative analysis method in vivo was established using ultra-performance liquid chromatography-tandem mass spectrometry technology (UPLC-MS/MS), and pharmacokinetic parameters: area under the zero and first moment curves from 0 to last time t (AUC 0-t , AUMC 0-t ), area under the zero and first moment curves from 0 to infinity (AUC 0-∞ , AUMC 0-∞ ), maximum plasma concentration (C max ) and mean residence time (MRT), were used as indicators to evaluate the percutaneous penetration effect of FCT in vivo. Additionally, we used the 3 K factorial design to study the joint synergistic penetration effect on FCT and chemical penetration enhancers. Through scanning electron microscopy (SEM) and transmission electron microscope (TEM) imaging, micro- and ultrastructural changes on the surface of the stratum corneum (SC) were observed to explore the FCT penetration mechanism. In vitro and in vivo skin permeation experiments revealed that both the total cumulative percutaneous amount and in vivo percutaneous absorption amount of IM using FCT were greater than the amount using CPEs and iontophoresis. Firstly, compared with

Grid of the Future: Quantification of Benefits from Flexible Energy Resources in Scenarios With Extra-High Penetration of Renewable Energy

Energy Technology Data Exchange (ETDEWEB)

Bebic, Jovan [General Electric International, Inc., Schenectady, NY (United States). Energy Consulting; Hinkle, Gene [General Electric International, Inc., Schenectady, NY (United States). Energy Consulting; Matic, Slobodan [General Electric International, Inc., Schenectady, NY (United States). Energy Consulting; Schmitt, William [General Electric International, Inc., Schenectady, NY (United States). Energy Consulting

2015-01-15

The main objective of this study is to quantify the entitlement for system benefits attainable by pervasive application of flexible energy resources in scenarios with extra-high penetration of renewable energy. The quantified benefits include savings in thermal energy and reduction of CO₂ emissions. Both are primarily a result of displacement of conventional thermal generation by renewable energy production, but there are secondary improvements that arise from lowering operating reserves, removing transmission constraints, and by partially removing energy-delivery losses due to energy production by distributed solar. The flexible energy resources in the context of this study include energy storage and adjustable loads. The flexibility of both was constrained to a time horizon of one day. In case of energy storage this means that the state of charge is restored to the starting value at the end of each day, while for load this means that the daily energy consumed is maintained constant. The extra-high penetration of renewable energy in the context of this study means the level of penetration resulting in significant number of hours where instantaneous power output from renewable resources added to the power output from baseload nuclear fleet surpasses the instantaneous power consumption by the load.

Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype

NARCIS (Netherlands)

Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

NARCIS (Netherlands)

Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

2017-01-01

Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

Analysis of distribution systems with a high penetration of distributed generation

DEFF Research Database (Denmark)

Lund, Torsten

Since the mid eighties, a large number of wind turbines and distributed combined heat and power plants (CHPs) have been connected to the Danish power system. Especially in the Western part, comprising Jutland and Funen, the penetration is high compared to the load demand. In some periods the wind...... power alone can cover the entire load demand. The objective of the work is to investigate the influence of wind power and distributed combined heat and power production on the operation of the distribution systems. Where other projects have focused on the modeling and control of the generators and prime...... movers, the focus of this project is on the operation of an entire distribution system with several wind farms and CHPs. Firstly, the subject of allocation of power system losses in a distribution system with distributed generation is treated. A new approach to loss allocation based on current injections...

A case of an intrahepatic fish bone penetration

International Nuclear Information System (INIS)

Tsuboi, Kazuhiko; Nakajima, Yoshiro; Yamamoto, Shunji; Nagao, Masatoshi; Nishimura, Kazumasa.

1981-01-01

A 56-year-old man was admitted to our hospital because of epigastric discomfort, appetite loss and body weight loss. A gallstone, signs of chronic inflammation and CEA-Z: 12.5 ng/ml were found. Abdominal CT scan revealed an intrahepatic low density nodule and an intra-and-extrahepatic high-dense, needle-like foreign body. By laparotomy a fish bone penetrating into the left lateral segment of the liver from the anterior wall of the prepyloric region of the stomach was found. Cholecystectomy was performed. The penetrating fish bone was withdrawn from the liver easily. The Postoperative course was smooth. The possibility of the definitive preoperative diagnosis of the intestinal fish bone penetration by abdominal CT scan was suggested. (author)

Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

Science.gov (United States)

... for This Condition ADLTE ADPEAF Autosomal dominant lateral temporal lobe epilepsy Epilepsy, partial, with auditory features ETL1 Related Information ... W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22- ...

A novel drug delivery gel of terbinafine hydrochloride with high penetration for external use.

Science.gov (United States)

Yang, Yan; Ou, Rujing; Guan, Shixia; Ye, Xiaoling; Hu, Bo; Zhang, Yi; Lu, Shufan; Zhou, Yubin; Yuan, Zhongwen; Zhang, Jun; Li, Qing-Guo

2015-12-01

Terbinafine hydrochloride is an antifungal drug for onychomycosis. Poor permeability of its external preparation leads to poor curative effect. Transfersomes, also known as flexible liposome, could improve transmission of drug for local external use. Terbinafine hydrochloride-loaded liposome is expected to become a breakthrough on the treatment of onychomycosis. This study is aimed to prepare high skin penetration terbinafine hydrochloride transfersomes with high encapsulation efficiency, appropriate drug loading and good stability. Taking entrapment efficiency as the main indicator, the formulations and the processes of preparation were investigated. Transfersomes with different surfactants were prepared in the optimization processes, and the formulations were optimized through the transdermal test in vitro. As a result, a gel contained transfersomes was obtained with a brief evaluation. Its pharmacokinetic properties of going through the skin were studied by using the micro dialysis technology and liquid chromatography-mass spectrometry to assay the penetration behavior of terbinafine. Mean particle size of the terbinafine hydrochloride transfersomes was 69.6 ± 1.23 nm, and the entrapment efficiency was 95.4% ± 0.51. The content of the gel was 4.45 ± 0.15 mg/g. The accumulated permeation of the transfersomes gel in 12 h was 88.52 ± 4.06 µg cm -2 and the intracutaneous drug detention was 94.38 ± 5.26 µg cm -2 . The results of pharmacokinetic studies showed the C max and area under the curve (AUC) were apparently higher than the commercial cream. The terbinafine hydrochloride transfersomes was highly absorbed by the skin. The absorption rate was significantly higher than that of the commercial cream either in the transdermal test in vitro or in the pharmacokinetic studies in vivo.

[Professor WU Zhongchao's experience of penetration needling].

Science.gov (United States)

Zhang, Ning; Wang, Bing; Zhou, Yu

2016-08-12

Professor WU Zhongchao has unique application of penetration needling in clinical treatment. Professor WU applies penetration needling along meridians, and the methods of penetration needling include self-meridian penetration, exterior-interior meridian penetration, identical-name meridian penetration, different meridian penetration. The meridian differentiation is performed according to different TCM syndromes, locations and natures of diseases and acupoint nature, so as to make a comprehensive assessment. The qi movement during acupuncture is focused. In addition, attention is paid on anatomy and long-needle penetration; the sequence and direction of acupuncture is essential, and the reinforcing and reducing methods have great originality, presented with holding, waiting, pressing and vibrating. Based on classical acupoint, the acupoint of penetration needling is flexible, forming unique combination of acupoints.

Molecular aspects of HNPCC and identification of mutation carriers

NARCIS (Netherlands)

Niessen, Renée Cecil

2007-01-01

Hereditary nonpolyposis colorectal cancer (HNPCC) - also referred to as Lynch syndrome - is an autosomal dominantly inherited disorder of cancer susceptibility with high penetrance (80-85%). It is one of the most common inherited cancer syndromes identified in humans so far. In typical HNPCC

Penetrative convection at high Rayleigh numbers

Science.gov (United States)

Toppaladoddi, Srikanth; Wettlaufer, John S.

2018-04-01

We study penetrative convection of a fluid confined between two horizontal plates, the temperatures of which are such that a temperature of maximum density lies between them. The range of Rayleigh numbers studied is Ra=[0.01 ,4 ]106,108 and the Prandtl numbers are Pr=1 and 11.6. An evolution equation for the growth of the convecting region is obtained through an integral energy balance. We identify a new nondimensional parameter, Λ , which is the ratio of temperature difference between the stable and unstable regions of the flow; larger values of Λ denote increased stability of the upper stable layer. We study the effects of Λ on the flow field using well-resolved lattice Boltzmann simulations and show that the characteristics of the flow depend sensitively upon it. For the range Λ = , we find that for a fixed Ra the Nusselt number, Nu, increases with decreasing Λ . We also investigate the effects of Λ on the vertical variation of convective heat flux and the Brunt-Väisälä frequency. Our results clearly indicate that in the limit Λ →0 the problem reduces to that of the classical Rayleigh-Bénard convection.

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

NARCIS (Netherlands)

Klevering, B.J.; Blankenagel, A.; Maugeri, A.; Cremers, F.P.M.; Hoyng, C.B.; Rohrschneider, K.

2002-01-01

PURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene. METHODS: The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were

Metasploit penetration testing cookbook

CERN Document Server

Agarwal, Monika

2013-01-01

This book follows a Cookbook style with recipes explaining the steps for penetration testing with WLAN, VOIP, and even cloud computing. There is plenty of code and commands used to make your learning curve easy and quick.This book targets both professional penetration testers as well as new users of Metasploit, who wish to gain expertise over the framework and learn an additional skill of penetration testing, not limited to a particular OS. The book requires basic knowledge of scanning, exploitation, and the Ruby language.

Cutaneous mucormycosis secondary to penetrative trauma.

Science.gov (United States)

Zahoor, Bilal; Kent, Stephen; Wall, Daryl

2016-07-01

Mucormycosis is a rare but serious sequelae of penetrating trauma [1-5]. In spite of aggressive management, mortality remains high due to dissemination of infection. We completed a review of literature to determine the most optimal treatment of cutaneous mucormycosis which occurs secondary to penetrating trauma. We completed a review regarding the management of mucormycosis in trauma patients. We selected a total of 36 reports, of which 18 were case-based, for review. Surgical debridement is a primary predictor of improved outcomes in the treatment of mucormycosis [3,6,7]. Anti-fungal therapy, especially lipid soluble formulation of Amphotericin B, is helpful as an adjunct or when surgical debridement has been maximally achieved. Further research is needed to fully evaluate the impact of topical dressings; negative pressure wound therapy is helpful. An aggressive and early surgical approach, even at the expense of disfigurement, is necessary to reduce mortality in the setting of cutaneous mucormycosis that results from penetrating trauma [4,8,9]. Anti-fungal therapy and negative pressure wound therapy are formidable adjuncts. Copyright © 2016 Elsevier Ltd. All rights reserved.

Impacts of reserve methodology on production cost in high-penetration renewable scenarios

Energy Technology Data Exchange (ETDEWEB)

Brinkman, G.; Lew, D.; Hummon, M.; Ibanez, E.; Ela, E.; Hodge, B.M. [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2012-07-01

Prior to wind and solar penetration, electric power systems were designed to handle variability in system load, uncertainty in load forecasts, and contingency events. Frequency regulations reserve typically handles high frequency (less than 5-minute time scale) variability. Contingency reserves supply energy in the case of the loss of a generator or transmission line. Wind and solar photovoltaic generation and variability to electric power system generation that must be balanced by the system operator. New ancillary service products may be necessary to minimize the cost of integrating these variable renewable generators. For example, California ISO is studying incorporating a flexible ramping product to ensure sufficient ramping capability. A flexibility reserve product could help ensure that sufficient capacity is online to handle unexpected variability in wind and solar generation. (orig.)

Modeling of Oblique Penetration into Geologic Targets Using Cavity Expansion Penetrator Loading with Target free-Surface Effects

Energy Technology Data Exchange (ETDEWEB)

Jung, Joe; Longcope, Donald B.; Tabbara, Mazen R.

1999-05-03

A procedure has been developed to represent the loading on a penetrator and its motion during oblique penetration into geologic media. The penetrator is modeled with the explicit dynamics, finite element computer program PRONTO 3D and the coupled pressure on the penetrator is given in a new loading option based on a separate cavity expansion (CE) solution that accounts for the pressure-reduction from a nearby target free surface. The free-surface influ- ence distance is selected in a predictive manner by considering the pressure to expand a spherical cavity in a finite radius sphere of the target material. The CE/PRONTO 3D procedure allows a detailed description of the penetrator for predicting shock environments or structural failure dur- ing the entire penetration event and is sufficiently rapid to be used in design optimization. It has been evaluated by comparing its results with data from two field tests of a full-scale penetrator into frozen soil at an impact angles of 49.6 and 52.5 degrees from the horizontal. The measured penetrator rotations were 24 and 22 degrees, respectively. In the simulation, the rotation was21 degrees and predominately resulted from the pressure reduction of the free surface. Good agree- ment was also found for the penetration depth and axial and lateral acceleration at two locations in the penetrator.

Allele frequencies of 23 autosomal short tandem repeat loci in the Philippine population.

Science.gov (United States)

Rodriguez, Jae Joseph Russell Beltran; Salvador, Jazelyn M; Calacal, Gayvelline C; Laude, Rita P; De Ungria, Maria Corazon A

2015-07-01

We characterized diversity and forensic descriptive parameters of 23 autosomal STR loci (CSF1PO, D13S317, D16S539, D5S818, D7S820, TPOX, D18S51, D21S11, D3S1358, D8S1179, FGA, TH01, vWA, D1S1656, D10S1248, D12S391, D2S441, D22S1045, D19S433, D2S1338, D6S1043, Penta D and Penta E) among 167 unrelated Filipinos. The most variable autosomal STR loci observed is Penta E (observed heterozygosity: 0.9222, match probability: 0.0167). Results reveal matching probability of 8.21×10(-28) for 23 autosomal STR loci. This dataset for the Philippine population may now be used in evaluating the weight of DNA evidence for forensic applications such as in human identification, parentage/kinship testing, and interpretation of DNA mixtures. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

A Mass Loss Penetration Model to Investigate the Dynamic Response of a Projectile Penetrating Concrete considering Mass Abrasion

Directory of Open Access Journals (Sweden)

NianSong Zhang

2015-01-01

Full Text Available A study on the dynamic response of a projectile penetrating concrete is conducted. The evolutional process of projectile mass loss and the effect of mass loss on penetration resistance are investigated using theoretical methods. A projectile penetration model considering projectile mass loss is established in three stages, namely, cratering phase, mass loss penetration phase, and remainder rigid projectile penetration phase.

Persistent enhancement of bacterial motility increases tumor penetration.

Science.gov (United States)

Thornlow, Dana N; Brackett, Emily L; Gigas, Jonathan M; Van Dessel, Nele; Forbes, Neil S

2015-11-01

Motile bacteria can overcome the transport limitations that hinder many cancer therapies. Active bacteria can penetrate through tissue to deliver treatment to resistant tumor regions. Bacterial therapy has had limited success, however, because this motility is heterogeneous, and within a population many individuals are non-motile. In human trials, heterogeneity led to poor dispersion and incomplete tumor colonization. To address these problems, a swarm-plate selection method was developed to increase swimming velocity. Video microscopy was used to measure the velocity distribution of selected bacteria and a microfluidic tumor-on-a-chip device was used to measure penetration through tumor cell masses. Selection on swarm plates increased average velocity fourfold, from 4.9 to 18.7 μm/s (P < 0.05) and decreased the number of non-motile individuals from 51% to 3% (P < 0.05). The selected phenotype was both robust and stable. Repeating the selection process consistently increased velocity and eliminated non-motile individuals. When selected strains were cryopreserved and subcultured for 30.1 doublings, the high-motility phenotype was preserved. In the microfluidic device, selected Salmonella penetrated deeper into cell masses than unselected controls. By 10 h after inoculation, control bacteria accumulated in the front 30% of cell masses, closest to the flow channel. In contrast, selected Salmonella accumulated in the back 30% of cell masses, farthest from the channel. Selection increased the average penetration distance from 150 to 400 μm (P < 0.05). This technique provides a simple and rapid method to generate high-motility Salmonella that has increased penetration and potential for greater tumor dispersion and clinical efficacy. © 2015 Wiley Periodicals, Inc.

Cellular Energy Pathways as Novel Targets for the Therapy of Autosomal Dominant Polycystic Kidney Disease

Science.gov (United States)

2017-09-01

AWARD NUMBER: W81XWH-15-1-0419 TITLE: Cellular Energy Pathways as Novel Targets for the Therapy of Autosomal Dominant Polycystic Kidney Disease...COVERED 1 Sep 2016 - 31 Aug 2017 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Cellular Energy Pathways as Novel Targets for the Therapy of Autosomal...inappropriate cell growth, fluid secretion, and dysregulation of cellular energy metabolism. The enzyme AMPK regulates a number of cellular pathways, including

Tungsten versus depleted uranium for armour-piercing penetrators

International Nuclear Information System (INIS)

Johnson, P.K.

1983-01-01

Tungsten alloys have been widely used in the production of armour-piercing (AP) penetrators for defense purposes for the past 40 years. In recent years, however, depleted uranium (DU) has also been utilised for this application. Both materials exhibit high density and strength, two properties necessary for kinetic-energy projectiles to penetrate armour on tanks and other vehicles. The facts, however, support the view that tungsten can and should be utilised as the primary material for most armour-defeating ordnance applications. (author)

FAA Fluorescent Penetrant Activities - An Update

Energy Technology Data Exchange (ETDEWEB)

Moore, D.G.

1998-10-20

The Federal Aviation Administration's Airworthiness Assurance NDI Validation Center (AANC) is currently characterizing low cycle fatigue specimens that will support the needs of penetrant manufacturers, commercial airline industry and the Federal Aviation Administration. The main focus of this characterization is to maintain and enhance the evaluation of penetrant inspection materials and apply resources to support the aircraft community needs. This paper discusses efforts to-date to document the Wright Laboratory penetrant evaluation process and characterize penetrant brightness readings in the initial set of sample calibration panels using Type 1 penetrant.

A new multiplex assay of 17 autosomal STRs and Amelogenin for forensic application.

Directory of Open Access Journals (Sweden)

Suhua Zhang

Full Text Available This paper describes a newly devised autosomal short tandem repeat (STR multiplex polymerase chain reaction (PCR systems for 17 autosomal loci (D1S1656, D2S441, D3S1358, D3S3045, D6S477, D7S3048, D8S1132, D10S1435, D10S1248, D11S2368, D13S325, D14S608, D15S659, D17S1290, D18S535, D19S253 and D22-GATA198B05 and Amelogenin. Primers for the loci were designed and optimized so that all of the amplicons were distributed from 50 base pairs (bp to less than 500 bp within a five-dye chemistry design with the fifth dye reserved for the sizing standard. Strategies were developed to overcome challenges that encountered in creating the final assay. The limits of the multiplex were tested, resulting in the successful amplification of genomic DNA range from 0.25-4 ng with 30 PCR cycles. A total of 681 individuals from the Chinese Han population were studied and forensic genetic data were present. No significant deviations from Hardy-Weinberg equilibrium were observed. A total of 180 alleles were detected for the 17 autosomal STRs. The cumulative mean exclusion chance in duos (CMECD was 0.999967, and cumulative mean exclusion chance in trios (CMECT was 0.99999995. We conclude that the present 17plex autosomal STRs assay provides an additional powerful tool for forensic applications.

On the applicability of dye penetrant tests on vacuum components: Allowed or forbidden?

Energy Technology Data Exchange (ETDEWEB)

Schröder, Michael, E-mail: Michael.schroeder@ipp.mpg.de [Max-Planck-Institut für Plasmaphysik, EURATOM Association, Teilinstitut Greifswald, Wendelsteinstr. 1, 17491 Greifswald (Germany); Biedermann, Christoph; Vilbrandt, Reinhard [Max-Planck-Institut für Plasmaphysik, EURATOM Association, Teilinstitut Greifswald, Wendelsteinstr. 1, 17491 Greifswald (Germany)

2013-10-15

Highlights: The study aims to clarify the applicability of dye penetrant tests on components exposed to high-vacuum. The results show, that the PT application on components for use under vacuum conditions can in general be allowed. The test surface should have a simple geometry. No gaps or holes. An efficient cleaning after PT is necessary. If PT is foreseen TIG should used as the welding procedure. PT tested components should be baked out after the cleaning in a vacuum chamber at min 150 °C. -- Abstract: The penetrant testing (PT) is a common non-destructive procedure for the testing of components and in particular of welds. With PT it is possible to detect surface imperfections (e.g. cracks) which have a special potential to lead to the failure of the component or of the weld. PT is substantially more sensitive than a purely visual examination. Because the complicated geometries of fusion experiments make the accessibility for repairs during the operation extremely difficult, very high efforts on testing with sensitive procedures, for instance with dye penetrant testing during assembly is required. In contrast to this desire for widespread penetrant testing, however, is the general fear that dye penetrant tested components or welds, which are used in the vacuum, are contaminated by the dye in such a way that they do not fulfill the cleanliness requirements for vacuum components. Therefore dye penetrant testing of such vacuum components is usually considered problematic. This study aims to clarify the applicability of dye penetrant tests on components exposed to high-vacuum. Recommendations are formulated concerning the PT procedure of vacuum components and the cleaning procedures for penetrant tested areas under vacuum necessary after a dye penetrant test.

Mixed-Penetrant Sorption in Ultra-Thin Films of Polymer of Intrinsic Microporosity PIM-1

KAUST Repository

Ogieglo, Wojciech; Furchner, Andreas; Ghanem, Bader; Ma, Xiao-Hua; Pinnau, Ingo; Wessling, Matthias

2017-01-01

Mixed penetrant sorption into ultra-thin films of a super-glassy polymer of intrinsic microporosity (PIM-1) was studied for the first time by using interference-enhanced in-situ spectroscopic ellipsometry. PIM-1 swelling and the concurrent changes in its refractive index were determined in ultra-thin (12 - 14 nm) films exposed to pure and mixed penetrants. The penetrants included water, n-hexane and ethanol and were chosen based on their significantly different penetrant-penetrant and penetrant-polymer affinities. This allowed studying microporous polymer responses at diverse ternary compositions and revealed effects such as competition for the sorption sites (for water / n-hexane or ethanol / n-hexane) or enhancement in sorption of typically weakly sorbing water in the presence of more highly sorbing ethanol. The results reveal details of the mutual sorption effects which often complicate comprehension of glassy polymers' behavior in applications such as high-performance membranes, adsorbents or catalysts. Mixed-penetrant effects are typically very challenging to study directly and their understanding is necessary owing to a broadly recognized inadequacy of simple extrapolations from measurements in pure component environment.

Mixed-Penetrant Sorption in Ultra-Thin Films of Polymer of Intrinsic Microporosity PIM-1

KAUST Repository

Ogieglo, Wojciech

2017-10-12

Mixed penetrant sorption into ultra-thin films of a super-glassy polymer of intrinsic microporosity (PIM-1) was studied for the first time by using interference-enhanced in-situ spectroscopic ellipsometry. PIM-1 swelling and the concurrent changes in its refractive index were determined in ultra-thin (12 - 14 nm) films exposed to pure and mixed penetrants. The penetrants included water, n-hexane and ethanol and were chosen based on their significantly different penetrant-penetrant and penetrant-polymer affinities. This allowed studying microporous polymer responses at diverse ternary compositions and revealed effects such as competition for the sorption sites (for water / n-hexane or ethanol / n-hexane) or enhancement in sorption of typically weakly sorbing water in the presence of more highly sorbing ethanol. The results reveal details of the mutual sorption effects which often complicate comprehension of glassy polymers\\' behavior in applications such as high-performance membranes, adsorbents or catalysts. Mixed-penetrant effects are typically very challenging to study directly and their understanding is necessary owing to a broadly recognized inadequacy of simple extrapolations from measurements in pure component environment.

Penetration Tester's Open Source Toolkit

CERN Document Server

Faircloth, Jeremy

2011-01-01

Great commercial penetration testing tools can be very expensive and sometimes hard to use or of questionable accuracy. This book helps solve both of these problems. The open source, no-cost penetration testing tools presented do a great job and can be modified by the user for each situation. Many tools, even ones that cost thousands of dollars, do not come with any type of instruction on how and in which situations the penetration tester can best use them. Penetration Tester's Open Source Toolkit, Third Edition, expands upon existing instructions so that a professional can get the most accura

Orientation dependence of deformation and penetration behavior of tungsten single crystal rods

International Nuclear Information System (INIS)

Bruchey, W.J. Jr.; Horwath, E.J.; Kingman, P.W.

1991-01-01

This paper reports on deformation and flow at a target/penetrator interface that occurs under conditions of high hydrostatic pressure and associated heat generation. To further elucidate the role of material structure in the penetration process, oriented single crystals of tungsten have been launched into steel targets and the residual penetrators recovered and analyzed. Both the penetration depth and the deformation characteristics were strongly influenced by the crystallographic orientation. Deformation modes for the left-angle 100 right-angle rod, which exhibited the best performance, appeared to involve considerable localized slip/cleavage and relatively less plastic working; the residual penetrator was extensively cracked and the eroded penetrator material was extruded in a smooth tube lined with an oriented array of discrete particle exhibiting cleavage fractures. Deformation appeared to be much less localized and to involve more extensive plastic working in the left-angle 011 right-angle rod, which exhibited the poorest penetration, while the left-angle 111 right-angle behaved in an intermediate fashion

NDST1 missense mutations in autosomal recessive intellectual disability.

Science.gov (United States)

Reuter, Miriam S; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B; Uebe, Steffen; Wienker, Thomas F; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia

2014-11-01

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in the clinical features, including both demonstrated and apparent intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency. Furthermore, in Drosophila, knockdown of sulfateless, the NDST ortholog, impairs long-term memory, highlighting its function in cognition. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. © 2014 Wiley Periodicals, Inc.

Large scale wind power penetration in Denmark

DEFF Research Database (Denmark)

Karnøe, Peter

2013-01-01

he Danish electricity generating system prepared to adopt nuclear power in the 1970s, yet has become the world's front runner in wind power with a national plan for 50% wind power penetration by 2020. This paper deploys a sociotechnical perspective to explain the historical transformation...... of "networks of power" via the interactions of politics, the techno-physics of electrons, and the market setting. The Danish case is about how an assemblage of new agencies has reorganized and reshaped society by building a new sociotechnical network. This has rendered developments highly unpredictable...... and highly experimental. The transformation process can be followed through the way successive technical engineering reports have represented the challenges associated with the penetration of wind power. The iteration shows how novel technical phenomena emerge and are assimilated, and how new engineering...

Reinvestigations of six unusual paternity cases by typing of autosomal single-nucleotide polymorphisms

DEFF Research Database (Denmark)

Børsting, Claus; Morling, Niels

2012-01-01

and published as case work examples in forensic journals. Here, the cases were reinvestigated by typing the samples for 49 autosomal single-nucleotide polymorphisms (SNPs) using the SNPforID multiplex assay. RESULTS: Three cases were solved by the SNP investigation without the need for any additional testing....... In two cases, the SNP results supported the conclusions based on STRs. In the last case, the SNP results spoke in favor of paternity, and the combined paternity index based on autosomal STRs and SNPs was 12.3 billion. Nevertheless, the alleged father was excluded by X-chromosome typing. CONCLUSION...

Bremsstrahlung-induced highly penetrating probes for nondestructive assay and defect analysis

CERN Document Server

Selim, F A; Harmon, J F; Kwofie, J; Spaulding, R; Erickson, G; Roney, T

2002-01-01

Nondestructive assay and defect analysis probes based on bremsstrahlung-induced processes have been developed to identify elements and probe defects in large volume samples. Bremsstrahlung beams from (electron accelerators) with end-point energies both above and below neutron emission threshold have been used. Below neutron emission threshold these beams (from 6 MeV small pulsed linacs), which exhibit high penetration, create positrons via pair production inside the material and produce X-ray fluorescence (XRF) radiation. Chemical assays of heavy elements in thick samples up to 10 g/cm sup 2 thick are provided by energy dispersive XRF measurements. The pair-produced positrons annihilate within the material, thereby emitting 511 keV gamma radiation. Doppler broadening spectroscopy of the 511 keV radiation can be performed to characterize the material and measure defects in samples of any desired thickness. This technique has successfully measured induced strain due to tensile stress in steel samples of 0.64 cm...

Self-association of a highly charged arginine-rich cell-penetrating peptide

Czech Academy of Sciences Publication Activity Database

Tesei, G.; Vazdar, M.; Jensen, M. R.; Cragnell, C.; Mason, Philip E.; Heyda, J.; Skepö, M.; Jungwirth, Pavel; Lund, M.

2017-01-01

Roč. 114, č. 43 (2017), s. 11428-11433 ISSN 0027-8424 R&D Projects: GA ČR(CZ) GA16-01074S Institutional support: RVO:61388963 Keywords : cell-penetrating peptide * self-association * MD simulations * SAXS * NMR Subject RIV: CF - Physical ; Theoretical Chemistry OBOR OECD: Physical chemistry Impact factor: 9.661, year: 2016

Analysis of 16 autosomal STRs and 17 Y-STRs in an indigenous Maya population from Guatemala.

Science.gov (United States)

Cardoso, Sergio; Sevillano, Rubén; Illescas, María J; de Pancorbo, Marian Martínez

2016-03-01

The aim of this study was to contribute new data on autosomal STR and Y-STR markers of the Mayas from Guatemala in order to improve available databases of forensic interest. We analyzed 16 autosomal STR markers in a population sample of 155 indigenous Maya and 17 Y-chromosomal STR markers in the 100 males of the sample. Deviations from Hardy-Weinberg equilibrium and linkage disequilibrium between autosomal STR markers were not observed at any loci. The combined power of exclusion was estimated as 99.9991% and the combined power of discrimination was >99.999999999999%. Haplotype diversity of Y-STRs was calculated as 0.9984 ± 0.0018 and analysis of pairwise genetic distances (Rst) supported the Native American background of the population.

Effect of compressibility on the hypervelocity penetration

Science.gov (United States)

Song, W. J.; Chen, X. W.; Chen, P.

2018-02-01

We further consider the effect of rod strength by employing the compressible penetration model to study the effect of compressibility on hypervelocity penetration. Meanwhile, we define different instances of penetration efficiency in various modified models and compare these penetration efficiencies to identify the effects of different factors in the compressible model. To systematically discuss the effect of compressibility in different metallic rod-target combinations, we construct three cases, i.e., the penetrations by the more compressible rod into the less compressible target, rod into the analogously compressible target, and the less compressible rod into the more compressible target. The effects of volumetric strain, internal energy, and strength on the penetration efficiency are analyzed simultaneously. It indicates that the compressibility of the rod and target increases the pressure at the rod/target interface. The more compressible rod/target has larger volumetric strain and higher internal energy. Both the larger volumetric strain and higher strength enhance the penetration or anti-penetration ability. On the other hand, the higher internal energy weakens the penetration or anti-penetration ability. The two trends conflict, but the volumetric strain dominates in the variation of the penetration efficiency, which would not approach the hydrodynamic limit if the rod and target are not analogously compressible. However, if the compressibility of the rod and target is analogous, it has little effect on the penetration efficiency.

Web penetration testing with Kali Linux

CERN Document Server

Muniz, Joseph

2013-01-01

Web Penetration Testing with Kali Linux contains various penetration testing methods using BackTrack that will be used by the reader. It contains clear step-by-step instructions with lot of screenshots. It is written in an easy to understand language which will further simplify the understanding for the user.""Web Penetration Testing with Kali Linux"" is ideal for anyone who is interested in learning how to become a penetration tester. It will also help the users who are new to Kali Linux and want to learn the features and differences in Kali versus Backtrack, and seasoned penetration testers

Percutaneous penetration studies for risk assessment

DEFF Research Database (Denmark)

Sartorelli, Vittorio; Andersen, Helle Raun; Angerer, Jürgen

2000-01-01

. In order to predict the systemic risk of dermally absorbed chemicals and to enable agencies to set safety standards, data is needed on the rates of percutaneous penetration of important chemicals. Standardization of in vitro tests and comparison of their results with the in vivo data could produce...... internationally accepted penetration rates and/or absorption percentages very useful for regulatory toxicology. The work of the Percutaneous Penetration Subgroup of EC Dermal Exposure Network has been focussed on the standardization and validation of in vitro experiments, necessary to obtain internationally...... accepted penetration rates for regulatory purposes. The members of the Subgroup analyzed the guidelines on percutaneous penetration in vitro studies presented by various organizations and suggested a standardization of in vitro models for percutaneous penetration taking into account their individual...

Energy Storage Requirements for Achieving 50% Solar Photovoltaic Energy Penetration in California

Energy Technology Data Exchange (ETDEWEB)

Denholm, Paul; Margolis, Robert

2016-08-01

We estimate the storage required to enable PV penetration up to 50% in California (with renewable penetration over 66%), and we quantify the complex relationships among storage, PV penetration, grid flexibility, and PV costs due to increased curtailment. We find that the storage needed depends strongly on the amount of other flexibility resources deployed. With very low-cost PV (three cents per kilowatt-hour) and a highly flexible electric power system, about 19 gigawatts of energy storage could enable 50% PV penetration with a marginal net PV levelized cost of energy (LCOE) comparable to the variable costs of future combined-cycle gas generators under carbon constraints. This system requires extensive use of flexible generation, transmission, demand response, and electrifying one quarter of the vehicle fleet in California with largely optimized charging. A less flexible system, or more expensive PV would require significantly greater amounts of storage. The amount of storage needed to support very large amounts of PV might fit within a least-cost framework driven by declining storage costs and reduced storage-duration needs due to high PV penetration.

Follicular and percutaneous penetration pathways of topically applied minoxidil foam.

Science.gov (United States)

Blume-Peytavi, Ulrike; Massoudy, Lida; Patzelt, Alexa; Lademann, Jürgen; Dietz, Ekkehart; Rasulev, Utkur; Garcia Bartels, Natalie

2010-11-01

In the past, it was assumed that the intercellular route was the only relevant penetration pathway for topically applied substances. Recent results on follicular penetration emphasize that the hair follicles represent a highly relevant and efficient penetration pathway and reservoir for topically applied substances. This study investigates a selective closure technique of hair follicle orifices in vivo assessing interfollicular and follicular absorption rates of topical minoxidil foam in humans. In delimited skin area, single hair orifices or interfollicular skin were blocked with a microdrop of special varnish-wax-mixture in vivo. Minoxidil foam (5%) was topically applied, and transcutaneous absorption was measured by a new surface ionization mass spectrometry technique in serum. Different settings (open, closed or none of both) enabled to clearly distinguish between interfollicular and follicular penetration of the topically applied minoxidil foam. Five minutes after topical application, minoxidil was detected in blood samples when follicles remained open, whereas with closed follicles 30 min were needed. Highest levels were found first when both pathways were open, followed by open follicles and subsequently by closed follicles. These results demonstrate the high importance of the follicular penetration pathway. Hair follicles are surrounded by a dense network of blood capillaries and dendritic cells and have stem cells in their immediate vicinity, making them ideal targets for drug delivery. Copyright © 2010 Elsevier B.V. All rights reserved.

Penetration of Photovoltaics in Greece

Directory of Open Access Journals (Sweden)

Eugenia Giannini

2015-06-01

Full Text Available Recently, an interesting experiment was completed in Greece concerning photovoltaic penetration into the electricity production sector. Based on the relevant laws and in accordance to the related European directives, an explosive penetration process was completed in less than three years, resulting in a 7% share of photovoltaics in electricity production instead of the previous negligible share. The legislation was based on licensing simplification and generous feed-in-tariffs. This approach transformed photovoltaic technology from a prohibitively expensive to a competitive one. This work aims to summarize the relevant legislation and illustrate its effect on the resulting penetration. A sigmoid-shape penetration was observed which was explained by a pulse-type driving force. The return on investment indicator was proposed as an appropriate driving force, which incorporates feed-in-tariffs and turnkey-cost. Furthermore, the resulting surcharge on the electricity price due to photovoltaic penetration was also analyzed.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Science.gov (United States)

Daiger, Stephen P.; Bowne, Sara J.; Sullivan, Lori S.

2015-01-01

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%–75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families. PMID:25304133

Modeling of Oblique Penetration into Geologic Targets Using Cavity Expansion Penetrator Loading with Target free-Surface Effects

Energy Technology Data Exchange (ETDEWEB)

Jung, Joe; Longcope, Donald B.; Tabbara, Mazen R.

1999-06-01

A procedure has been developed to represent the loading on a penetrator and its motion during oblique penetration into geologic media. The penetrator is modeled with the explicit dynamics, finite element computer program PRONTO 3D and the coupled pressure on the penetrator is given in a new loading option based on a separate cavity expansion (CE) solution that accounts for the pressure reduction from a nearby target free surface. The free-surface influence distance is selected in a predictive manner by considering the pressure to expand a spherical cavity in a finite radius sphere of the target material. The CE/PRONTO 3D procedure allows a detailed description of the penetrator for predicting shock environments or structural failure during the entire penetra- tion event and is sufficiently rapid to be used in design optimization. It has been evaluated by comparing its results with data from two field tests of a full-scale penetrator into frozen soil at an impact angles of 49.6 and 52.5 degrees from the horizontal. The measured penetrator rotations were 24 and 22 degrees, respectively. In the simulation, the rotation was 21 degrees and predom- inately resulted from the pressure reduction of the free surface. Good agreement was also found for the penetration depth and axial and lateral acceleration at two locations in the penetrator.

Videofluoroscopic Predictors of Penetration-Aspiration in Parkinson's Disease Patients.

Science.gov (United States)

Argolo, Natalie; Sampaio, Marília; Pinho, Patrícia; Melo, Ailton; Nóbrega, Ana Caline

2015-12-01

Parkinson's disease (PD) patients show a high prevalence of swallowing disorders and tracheal aspiration of food. The videofluoroscopic study of swallowing (VFSS) allows clinicians to visualize the visuoperceptual and temporal parameters associated with swallowing disorders in an attempt to predict aspiration risk. However, this subject remains understudied in PD populations. Our aim was to identify the predictors of penetration-aspiration in PD patients using the VFSS. Consecutive patients were evaluated using VFSS with different consistencies and volumes of food. A speech-language pathologist measured the type of intra-oral bolus organization, loss of bolus control, bolus location at the initiation of the pharyngeal swallow, the presence of multiple swallows, piecemeal deglutition, bolus residue in the pharyngeal recesses and temporal measures. Scores ≥3 on the penetration-aspiration scale (PAS) indicated the occurrence of penetration-aspiration. Using logistic marginal regression, we found that residue in the vallecula, residue in the upper esophageal sphincter and piecemeal deglutition were associated with penetration-aspiration (odds ratio (OR) = 4.09, 2.87 and 3.83; P = 0.0040, 0.0071 and 0.0009, respectively). Penetration/aspiration occurred only with fluids (both of thin and thick consistency), and no significant differences were observed between fluid types or food volumes. The mechanisms underlying dysphagia and penetration/aspiration in PD patients and indications for further studies are discussed.

A Distributed Robust Dispatch Approach for Interconnected Systems with a High Proportion of Wind Power Penetration

Directory of Open Access Journals (Sweden)

Jianwen Ren

2018-04-01

Full Text Available This paper proposes a distributed robust dispatch approach to solve the economic dispatch problem of the interconnected systems with a high proportion of wind power penetration. First of all, the basic principle of synchronous alternating direction method of multipliers (SADMM is introduced to solve the economic dispatch problem of the two interconnected regions. Next, the polyhedron set of the robust optimization method is utilized to describe the wind power output. To adjust the conservativeness of the polyhedron set, an adjustment factor of robust conservativeness is introduced. Subsequently, considering the operation characteristics of the DC tie line between the interconnected regions, an economic dispatch model with a high proportion of wind power penetration is established and parallel iteration based on SADMM is used to solve the model. In each iteration, the optimized power of DC tie lines is exchanged between the regions without requiring the participation of the superior dispatch center. Finally, the validity of the proposed model is verified by the examples of the 2-area 6-node interconnected system and the interconnection of several modified New England 39-node systems. The results show that the proposed model can meet the needs of the independent dispatch of regional power grids, effectively deal with the uncertainty of wind power output, and maximize the wind power consumption under the condition of ensuring the safe operation of the interconnected systems.

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

NARCIS (Netherlands)

Beeldman, Emma; van der Kooi, Anneke J.; de Visser, Marianne; van Maarle, Merel C.; van Ruissen, Fred; Baas, Frank

2015-01-01

Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin

Technical impacts of high penetration levels of wind power on power system stability

DEFF Research Database (Denmark)

Flynn, Damian; Rather, Z.; Ardal, Atle

2017-01-01

With increasing penetrations of wind generation, based on power-electronic converters, power systems are transitioning away from well-understood synchronous generator-based systems, with growing implications for their stability. Issues of concern will vary with system size, wind penetration level......, geographical distribution and turbine type, network topology, electricity market structure, unit commitment procedures, and other factors. However, variable-speed wind turbines, both onshore and connected offshore through DC grids, offer many control opportunities to either replace or enhance existing...... capabilities. Achieving a complete understanding of future stability issues, and ensuring the effectiveness of new measures and policies, is an iterative procedure involving portfolio development and flexibility assessment, generation cost simulations, load flow, and security analysis, in addition...

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa

Science.gov (United States)

Ezquerra-Inchausti, Maitane; Barandika, Olatz; Anasagasti, Ander; Irigoyen, Cristina; López de Munain, Adolfo; Ruiz-Ederra, Javier

2017-01-01

Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a total of 29 index cases were ascertained based on a family tree compatible with adRP. A custom panel of 31 adRP genes was analysed by targeted next-generation sequencing using the Ion PGM platform in combination with Sanger sequencing. This allowed us to detect putative disease-causing mutations in 14 out of the 29 (48.28%) families analysed. Remarkably, around 38% of all adRP cases analysed showed mutations affecting the splicing process, mainly due to mutations in genes coding for spliceosome factors (SNRNP200 and PRPF8) but also due to splice-site mutations in RHO. Twelve of the 14 mutations found had been reported previously and two were novel mutations found in PRPF8 in two unrelated patients. In conclusion, our results will lead to more accurate genetic counselling and will contribute to a better characterisation of the disease. In addition, they may have a therapeutic impact in the future given the large number of studies currently underway based on targeted RNA splicing for therapeutic purposes. PMID:28045043

Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.

Science.gov (United States)

Mets, Sarah; Tryon, Rebecca; Veach, Patricia McCarthy; Zierhut, Heather A

2016-04-01

The development of hereditary cancer genetic testing panels has altered genetic counseling practice. Mutations within certain genes on cancer panels pose not only a cancer risk, but also a reproductive risk for autosomal recessive conditions such as Fanconi anemia, constitutional mismatch repair deficiency syndrome, and ataxia telangiectasia. This study aimed to determine if genetic counselors discuss reproductive risks for autosomal recessive conditions associated with genes included on cancer panels, and if so, under what circumstances these risks are discussed. An on-line survey was emailed through the NSGC list-serv. The survey assessed 189 cancer genetic counselors' experiences discussing reproductive risks with patients at risk to carry a mutation or variant of uncertain significance (VUS) in a gene associated with both an autosomal dominant cancer risk and an autosomal recessive syndrome. Over half (n = 82, 55 %) reported having discussed reproductive risks; the remainder (n = 66, 45 %) had not. Genetic counselors who reported discussing reproductive risks primarily did so when patients had a positive result and were of reproductive age. Reasons for not discussing these risks included when a patient had completed childbearing or when a VUS was identified. Most counselors discussed reproductive risk after obtaining results and not during the informed consent process. There is inconsistency as to if and when the discussion of reproductive risks is taking place. The wide variation in responses suggests a need to develop professional guidelines for when and how discussions of reproductive risk for autosomal recessive conditions identified through cancer panels should occur with patients.

Elastic behavior of MFI-type zeolites: Compressibility of H-ZSM-5 in penetrating and non-penetrating media

International Nuclear Information System (INIS)

Quartieri, Simona; Montagna, Gabriele; Arletti, Rossella; Vezzalini, Giovanna

2011-01-01

The elastic behavior of H-ZSM-5 was investigated by in-situ synchrotron X-ray powder diffraction, using both silicone oil (s.o.) and (16:3:1) methanol:ethanol:water (m.e.w.) as 'non-penetrating' and 'penetrating' pressure transmitting media, respectively. From P amb to 6.2 GPa the volume reduction observed in s.o. is 16.6%. This testifies that H-ZSM-5 is one of the most flexible microporous materials up to now compressed in s.o. Volume reduction observed in m.e.w. up to 7.6 GPa is 14.6%. A strong increase in the total electron number of the extraframework system, due to the penetration of water/alcohol molecules in the pores, is observed in m.e.w. This effect is the largest up to now observed in zeolites undergoing this phenomenon without cell volume expansion. The higher compressibility in s.o. than in m.e.w. can be ascribed to the penetration of the extra-water/alcohol molecules, which stiffen the structure and contrast the channel deformations. - Graphical abstract: High-pressure behavior of H-ZSM-5 compressed in (16:3:1) methanol:ethanol:water: (a) projection of the structure along the [0 1 0] direction at P amb , 2 GPa and after pressure release to original ambient conditions (P amb (rev)), and (b) P-dependence of the extraframework content expressed as total number of electrons (gray square represents the number of the extraframework electrons at P amb after decompression). Highlights: → X-ray powder diffraction study of H-ZSM-5 compressibility. → H-ZSM-5 is one of the softest porous material compressed in silicon oil. → Penetration of additional water/alcohol molecules upon compression in m.e.w. → Extra molecules contribute to stiffen the structure and to contrast HP effects.

Evolutionary history of continental southeast Asians: "early train" hypothesis based on genetic analysis of mitochondrial and autosomal DNA data.

Science.gov (United States)

Jinam, Timothy A; Hong, Lih-Chun; Phipps, Maude E; Stoneking, Mark; Ameen, Mahmood; Edo, Juli; Saitou, Naruya

2012-11-01

The population history of the indigenous populations in island Southeast Asia is generally accepted to have been shaped by two major migrations: the ancient "Out of Africa" migration ∼50,000 years before present (YBP) and the relatively recent "Out of Taiwan" expansion of Austronesian agriculturalists approximately 5,000 YBP. The Negritos are believed to have originated from the ancient migration, whereas the majority of island Southeast Asians are associated with the Austronesian expansion. We determined 86 mitochondrial DNA (mtDNA) complete genome sequences in four indigenous Malaysian populations, together with a reanalysis of published autosomal single-nucleotide polymorphism (SNP) data of Southeast Asians to test the plausibility and impact of those migration models. The three Austronesian groups (Bidayuh, Selatar, and Temuan) showed high frequencies of mtDNA haplogroups, which originated from the Asian mainland ∼30,000-10,000 YBP, but low frequencies of "Out of Taiwan" markers. Principal component analysis and phylogenetic analysis using autosomal SNP data indicate a dichotomy between continental and island Austronesian groups. We argue that both the mtDNA and autosomal data suggest an "Early Train" migration originating from Indochina or South China around the late-Pleistocene to early-Holocene period, which predates, but may not necessarily exclude, the Austronesian expansion.

Barrier penetration database

International Nuclear Information System (INIS)

Fainberg, A.; Bieber, A.M. Jr.

1978-11-01

This document is intended to supply the NRC and nuclear power plant licensees with basic data on the times required to penetrate forcibly the types of barriers commonly found in nuclear plants. These times are necessary for design and evaluation of the physical protection system required under 10CFR73.55. Each barrier listed is described in detail. Minor variations in basic barrier construction that result in the same penetration time, are also described

Influence of Antenna Characteristics on Elevation Dependence of Building Penetration Loss for High Elevation Links

Directory of Open Access Journals (Sweden)

M. Kvicera

2012-12-01

Full Text Available Building penetration loss models presented in our previous paper [1] were valid for various scenarios, propagation conditions, frequency bands and hemispherical receiving antenna pointing towards zenith. These models had a significantly rising trend of penetration loss with increasing elevation angle of the link in common. In this paper we show that when working with non-isotropic terminal antennas, this trend relates primarily to the elevation trend of the corresponding reference level dependent on the receiving antenna radiation pattern. This is demonstrated by the results of single-input multiple-output (SIMO measurement trials performed at L-band in an office building and a brick building in the city of Prague. Further, based on the detailed analysis, a method to modify the elevation trend of a particular penetration loss model for different receiving antenna radiation patterns is derived and experimentally validated.

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Science.gov (United States)

Shakkottai, Vikram G; Fogel, Brent L

2013-11-01

The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

Directory of Open Access Journals (Sweden)

Fatih Firinci

2012-01-01

Full Text Available Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed.

Orientation dependence of deformation and penetration behavior of tungsten single-crystal rods

International Nuclear Information System (INIS)

Bruchey, W.J.; Horwath, E.J.; Kingman, P.W.

1991-01-01

This paper reports on the performance of tungsten single crystals as kinetic energy penetrator materials that was investigated in a high length-to-diameter (L/D) rod geometry at sub-scale (1/4 geometric scale). The [111]. [110], and [100] crystal orientations were tested in this 74-g LD = 15 geometry penetrator (6.90-mm diameter x 102.5-mm length). Several 93% tungsten alloy and uranium 3/4 titanium rod geometries were also tested to baseline expected performance of typical penetrator material/geometry combinations. Performance was determined for semi-infinite penetration into RHA steel and finite penetration into 76.20-mm RHA steel. Of the orientation tested, the [100] orientation provided the best ballistic results, with superior performance to mass and geometric equivalent 93% tungsten alloy rods. The [100] orientation also provided similar performance to geometric equivalent uranium 3/4 titanium rods. Favorable slip/cleavage during the compressive loading of the penetration process to allow penetrator material flow without large scale plastic deformation, and final shear localization at a favorable angle for easy material flow away from the penetration interface, contribute to the [100] orientation crystals' excellent performance. The net result was less energy expenditure during penetrator flow and, therefore, more energy for deformation of RHA

A Scenario-Based Approach for Energy Storage Capacity Determination in LV Grids with High PV Penetration

DEFF Research Database (Denmark)

Hashemi Toghroljerdi, Seyedmostafa; Østergaard, Jacob; Yang, Guangya

2014-01-01

In this paper a new method is proposed to determine the minimum energy storage required to be installed at different locations of a low voltage (LV) grid in order to prevent the overvoltage due to high residential photovoltaic (PV) penetration. The method is based on the voltage sensitivity...... with different occurrence probabilities without involving the time-series studies problems. The proposed method is capable of modeling output power of PV panels with different orientations as well as different electric vehicle (EV) charging patterns....

Quantitative wood–adhesive penetration with X-ray computed tomography

Energy Technology Data Exchange (ETDEWEB)

Paris, Jesse L.; Kamke, Frederick A. (Oregon State U.); (Willamette Valley)

2015-09-01

Micro X-ray computed tomography (XCT) was used to analyze the 3D adhesive penetration behavior of different wood–adhesive bondlines. Three adhesives, a phenol formaldehyde (PF), a polymeric diphenylmethane diisocyanate (pMDI), and a hybrid polyvinyl acetate (PVA), all tagged with iodine for enhanced X-ray attenuation, were used to prepare single-bondline laminates in two softwoods, Douglas-fir and loblolly pine, and one hardwood, a hybrid polar. Adhesive penetration depth was measured with two separate calculations, and results were compared with 2D fluorescent micrographs. A total of 54 XCT scans were collected, representing six replicates of each treatment type; each replicate, however, consisted of approximately 1500 individual, cross-section slices stacked along the specimen length. As these adhesives were highly modified, the presented results do not indicate typical behavior for their broader adhesive classes. Still, clear penetration differences were observed between each adhesive type, and between wood species bonded with both the PF and pMDI adhesives. Furthermore, penetration results depended on the calculation method used. Two adhesive types with noticeably different resin distributions in the cured bondline, showed relatively similar penetration depths when calculated with a traditional effective penetration equation. However, when the same data was calculated with a weighted penetration calculation, which accounts for both adhesive area and depth, the results appeared to better represent the different distributions depicted in the photomicrographs and tomograms. Additionally, individual replicate comparisons showed variation due to specimen anatomy, not easily observed or interpreted from 2D images. Finally, 3D views of segmented 3D adhesive phases offered unique, in-situ views of the cured adhesive structures. In particular, voids formed by CO₂ bubbles generated during pMDI cure were clearly visible in penetrated columns of the solidified

Abnormal X : autosome ratio, but normal X chromosome inactivation in human triploid cultures

Directory of Open Access Journals (Sweden)

Norwood Thomas H

2006-07-01

Full Text Available Abstract Background X chromosome inactivation (XCI is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes (Xi in normal female cells, leaving them with a single active X (Xa as in male cells. In cells with more than two X's, but a diploid autosomal complement, all X's but one, Xa, are inactivated. This phenomenon is commonly thought to suggest 1 that normal development requires a ratio of one Xa per diploid autosomal set, and 2 that an early event in XCI is the marking of one X to be active, with remaining X's becoming inactivated by default. Results Triploids provide a test of these ideas because the ratio of one Xa per diploid autosomal set cannot be achieved, yet this abnormal ratio should not necessarily affect the one-Xa choice mechanism for XCI. Previous studies of XCI patterns in murine triploids support the single-Xa model, but human triploids mostly have two-Xa cells, whether they are XXX or XXY. The XCI patterns we observe in fibroblast cultures from different XXX human triploids suggest that the two-Xa pattern of XCI is selected for, and may have resulted from rare segregation errors or Xi reactivation. Conclusion The initial X inactivation pattern in human triploids, therefore, is likely to resemble the pattern that predominates in murine triploids, i.e., a single Xa, with the remaining X's inactive. Furthermore, our studies of XIST RNA accumulation and promoter methylation suggest that the basic features of XCI are normal in triploids despite the abnormal X:autosome ratio.

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Science.gov (United States)

Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B; Capasso, Jenina E; Levin, Alex V

2015-06-01

Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed. Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.

Study of the disorder by means of the superconducting penetration depth

International Nuclear Information System (INIS)

Arce, R.D.

1982-11-01

Measurements of the weak magnetic field penetration depth in the amorphous superconducting systems Lasub(1-x) Msub(x), being M = Cu, Al, Ga and Au, and in the Zr 70 Cu 30 system are presented. Measurements of the sample geometrical factors and the flux expulsion between the lowest temperature reached and the critical temperature, allows the determination of zero temperature penetration depth. The measurement of the flux expulsion as a function of temperature is used to determine the temperature dependence of penetration depth, used to evaluate the temperature dependence superconducting gap. The magnetization measurements have been made using an rf-SQUID. The evolution of the penetration depth with annealing is studied in the La 70 Cu 30 and Zr 70 Cu 30 systems. Measurements of the electrical resistivity and the critical temperature are used to verify the Gorkov equations in these materials. The variation of the penetration depth with annealing suggests that a metallurgical phase separation occurs within the submicrometer range. Penetration depth measurement is a tool to detect this type of phase separation in high kappa materials. (M.E.L.) [es

3. Pattern of Inheritance of Autosome and Sex. Chromosome Linked ...

Indian Academy of Sciences (India)

Home; Journals; Resonance – Journal of Science Education; Volume 4; Issue 10. Teaching and Learning Genetics with Drosophila – Pattern of Inheritance of Autosome and Sex Chro-mosome Linked Genes/Characters. H A Ranganath M T Tanuja. Classroom Volume 4 Issue 10 October 1999 pp 78-87 ...

Filter penetration and breathing resistance evaluation of respirators and dust masks.

Science.gov (United States)

Ramirez, Joel; O'Shaughnessy, Patrick

2017-02-01

The primary objective of this study was to compare the filter performance of a representative selection of uncertified dust masks relative to the filter performance of a set of NIOSH-approved N95 filtering face-piece respirators (FFRs). Five different models of commercially available dust masks were selected for this study. Filter penetration of new dust masks was evaluated against a sodium chloride aerosol. Breathing resistance (BR) of new dust masks and FFRs was then measured for 120 min while challenging the dust masks and FFRs with Arizona road dust (ARD) at 25°C and 30% relative humidity. Results demonstrated that a wide range of maximum filter penetration was observed among the dust masks tested in this study (3-75% at the most penetrating particle size (p masks did not vary greatly (8-13 mm H 2 O) but were significantly different (p mask. Microscopic analysis of the external layer of each dust mask and FFR suggests that different collection media in the external layer influences the development of the dust layer and therefore affects the increase in BR differently between the tested models. Two of the dust masks had penetration values masks, those with penetration > 15%, had quality factors ranging between 0.04-0.15 primarily because their initial BR remained relatively high. These results indicate that some dust masks analysed during this research did not have an expected very low BR to compensate for their high penetration.

Autosomal male determination in a spinosad-resistant housefly strain from Denmark

DEFF Research Database (Denmark)

Højland, Dorte H; Scott, Jeffrey G; Vagn Jensen, Karl-Martin

2014-01-01

males in this strain. The factor responsible for spinosad resistance in the strain is unknown, but previous studies suggest a role of cytochrome P450s for detoxification of spinosad. Sex determination in the housefly is controlled by a male-determining factor (M), either located on the Y chromosome......BACKGROUND The housefly, Musca domestica L., is a global pest and has developed resistance to most insecticides applied for its control. The insecticide spinosad plays an important role in housefly control. Females of the Danish housefly strain 791spin are threefold more resistant to spinosad than...... of resistance to spinosad. Sex determination in 791spin is due to a male factor on autosome 3. CONCLUSIONS The most likely explanation for the differentiation of spinosad resistance between males and females is a recessive spinosad resistance factor on autosome III. © 2013 Society of Chemical Industry...

Melt pool and keyhole behaviour analysis for deep penetration laser welding

International Nuclear Information System (INIS)

Fabbro, R

2010-01-01

One usually defines the main characteristic of the welding performances of a given laser system by its 'penetration curve' that corresponds to the welding depth as a function of the welding speed V w for a given set of operating parameters. Analysis of a penetration curve is interesting and gives very fruitful results. Coupled with high-speed video imaging of melt pool surface and ejected plume behaviour, the analysis of this penetration curve on a very large range of welding speeds, typically from 0 to 50 m min -1 , has allowed us to observe very different and characteristic regimes. These regimes are mainly characterized by the physical processes by which they impede the laser beam penetration inside the material. We show that it is only at rather high welding speeds that these limiting processes are reduced. Consequently, the scaling law of welding depth with welding speed is in agreement with adapted modelling of this process. On the other hand, as the welding speed is reduced, different effects depending on the weld pool dynamics and plume interaction strongly disturb the keyhole stability and are responsible for the deviation of the penetration curve from the previous modelling that agrees with a 1/V w scaling law. A corresponding criterion for the occurrence of this effect is defined.

Diffusion of radioactively tagged penetrants through rubbery polymers. II. Dependence on molecular length of penetrant

International Nuclear Information System (INIS)

Rhee, C.K.; Ferry, J.D.; Fetters, L.J.

1977-01-01

The diffusion of radioactively tagged n-hexadecane, n-dotriacontane, and a polybutadiene oligomer with molecular weight 1600 has been studied in 12 rubbery polymers. Diffusion coefficients were obtained from the theory for the thin smear method: for n-hexadecane and for n-dotriacontane (with one exception), in the form appropriate for a completely miscible polymer-penetrant pair, and for the oligomer in the form appropriate for slow entry of the pentrant across the penetrant-polymer interface. For the four flexible linear penetrants, n-dodecane, n-hexadecane, n-dotriacontane, and oligomer, the ratios of diffusion coefficients (or translational friction coefficients) are nearly the same in every polymer. It is concluded that these penetrants travel with similar segmentwise motions, although that is not the case with bulkier, more rigid penetrants. For the three normal paraffins, the friction coefficient is approximately proportional to molecular weight, but that for the oligomer is smaller than would be predicted on this basis

Cell-penetrating peptides for drug delivery across membrane barriers

DEFF Research Database (Denmark)

Foged, Camilla; Nielsen, Hanne Moerck

2008-01-01

During the last decade, cell-penetrating peptides have been investigated for their ability to overcome the plasma membrane barrier of mammalian cells for the intracellular or transcellular delivery of cargoes as diverse as low molecular weight drugs, imaging agents, oligonucleotides, peptides......, proteins and colloidal carriers such as liposomes and polymeric nanoparticles. Their ability to cross biological membranes in a non-disruptive way without apparent toxicity is highly desired for increasing drug bioavailability. This review provides an overview of the application of cell......-penetrating peptides as transmembrane drug delivery agents, according to the recent literature, and discusses critical issues and future challenges in relation to fully understanding the fundamental principles of the cell-penetrating peptide-mediated membrane translocation of cargoes and the exploitation...

Kali Linux wireless penetration testing essentials

CERN Document Server

Alamanni, Marco

2015-01-01

This book is targeted at information security professionals, penetration testers and network/system administrators who want to get started with wireless penetration testing. No prior experience with Kali Linux and wireless penetration testing is required, but familiarity with Linux and basic networking concepts is recommended.

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

NARCIS (Netherlands)

Fouchier, Sigrid W.; Hutten, Barbara A.; Defesche, Joep C.

2015-01-01

Autosomal-dominant hypercholesterolaemia (ADH) is a heterogeneous common disorder, and uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research. However, despite rapid technical advances, efforts to identify novel ADH genes have yet not been very successful

Two novel mutations in ILDR1 gene cause autosomal recessive ...

Indian Academy of Sciences (India)

In a recent screening programme on hearing loss (HL), we examined 17 common autosomal recessive nonsyndromic hearing loss (ARNSHL) genes in every consanguineous Ira- nian family with ARNSHL that was referred to our centre. We first screened GJB2 mutations and then utilized a panel of three to four short ...

Climate and Water Vulnerability of the US Electricity Grid Under High Penetrations of Renewable Energy

Science.gov (United States)

Macknick, J.; Miara, A.; O'Connell, M.; Vorosmarty, C. J.; Newmark, R. L.

2017-12-01

The US power sector is highly dependent upon water resources for reliable operations, primarily for thermoelectric cooling and hydropower technologies. Changes in the availability and temperature of water resources can limit electricity generation and cause outages at power plants, which substantially affect grid-level operational decisions. While the effects of water variability and climate changes on individual power plants are well documented, prior studies have not identified the significance of these impacts at the regional systems-level at which the grid operates, including whether there are risks for large-scale blackouts, brownouts, or increases in production costs. Adequately assessing electric grid system-level impacts requires detailed power sector modeling tools that can incorporate electric transmission infrastructure, capacity reserves, and other grid characteristics. Here, we present for the first time, a study of how climate and water variability affect operations of the power sector, considering different electricity sector configurations (low vs. high renewable) and environmental regulations. We use a case study of the US Eastern Interconnection, building off the Eastern Renewable Generation Integration Study (ERGIS) that explored operational challenges of high penetrations of renewable energy on the grid. We evaluate climate-water constraints on individual power plants, using the Thermoelectric Power and Thermal Pollution (TP2M) model coupled with the PLEXOS electricity production cost model, in the context of broader electricity grid operations. Using a five minute time step for future years, we analyze scenarios of 10% to 30% renewable energy penetration along with considerations of river temperature regulations to compare the cost, performance, and reliability tradeoffs of water-dependent thermoelectric generation and variable renewable energy technologies under climate stresses. This work provides novel insights into the resilience and

Mechanism of long-range penetration of low-energy ions in botanic samples

International Nuclear Information System (INIS)

Liu Feng; Wang Yugang; Xue Jianming; Wang Sixue; Du Guanghua; Yan Sha; Zhao Weijiang

2002-01-01

The authors present experimental evidence to reveal the mechanism of long-range penetration of low-energy ions in botanic samples. In the 100 keV Ar + ion transmission measurement, the result confirmed that low-energy ions could penetrate at least 60 μm thick kidney bean slices with the probability of about 1.0 x 10 -5 . The energy spectrum of 1 MeV He + ions penetrating botanic samples has shown that there is a peak of the count of ions with little energy loss. The probability of the low-energy ions penetrating the botanic sample is almost the same as that of the high-energy ions penetrating the same samples with little energy loss. The results indicate that there are some micro-regions with mass thickness less than the projectile range of low-energy ions in the botanic samples and they result in the long-range penetration of low-energy ions in botanic samples

Hermetic cable penetrations for containments of nuclear power reactors meet high safety standards

International Nuclear Information System (INIS)

Kusserow, J.; Gurr, W.; Pflug, H.

1985-05-01

Different types of cable penetrations for containments of nuclear power reactors have been developed and fabricated in the GDR. The technical parameters achieved are in accordance with the radiation protection requirements

Market penetration rates of new energy technologies

International Nuclear Information System (INIS)

Lund, Peter

2006-01-01

The market penetration rates of 11 different new energy technologies were studied covering energy production and end-use technologies. The penetration rates were determined by fitting observed market data to an epidemical diffusion model. The analyses show that the exponential penetration rates of new energy technologies may vary from 4 up to over 40%/yr. The corresponding take-over times from a 1% to 50% share of the estimated market potential may vary from less than 10 to 70 years. The lower rate is often associated with larger energy impacts. Short take-over times less than 25 years seem to be mainly associated with end-use technologies. Public policies and subsides have an important effect on the penetration. Some technologies penetrate fast without major support explained by technology maturity and competitive prices, e.g. compact fluorescent lamps show a 24.2%/yr growth rate globally. The penetration rates determined exhibit some uncertainty as penetration has not always proceeded close to saturation. The study indicates a decreasing penetration rate with increasing time or market share. If the market history is short, a temporally decreasing functional form for the penetration rate coefficient could be used to anticipate the probable behavior

Ethical hacking and penetration testing guide

CERN Document Server

Baloch, Rafay

2014-01-01

Requiring no prior hacking experience, Ethical Hacking and Penetration Testing Guide supplies a complete introduction to the steps required to complete a penetration test, or ethical hack, from beginning to end. You will learn how to properly utilize and interpret the results of modern-day hacking tools, which are required to complete a penetration test. The book covers a wide range of tools, including Backtrack Linux, Google reconnaissance, MetaGooFil, dig, Nmap, Nessus, Metasploit, Fast Track Autopwn, Netcat, and Hacker Defender rootkit. Supplying a simple and clean explanation of how to effectively utilize these tools, it details a four-step methodology for conducting an effective penetration test or hack.Providing an accessible introduction to penetration testing and hacking, the book supplies you with a fundamental understanding of offensive security. After completing the book you will be prepared to take on in-depth and advanced topics in hacking and penetration testing. The book walks you through each ...

Characteristics of rain penetration through a gravity ventilator used for natural ventilation.

Science.gov (United States)

Kim, Taehyeung; Lee, Dong Ho; Ahn, Kwangseog; Ha, Hyunchul; Park, Heechang; Piao, Cheng Xu; Li, Xiaoyu; Seo, Jeoungyoon

2008-01-01

Gravity ventilators rely simply on air buoyancy to extract air and are widely used to exhaust air contaminants and heat from workplaces using minimal energy. They are designed to maximize the exhaust flow rate, but the rain penetration sometimes causes malfunctioning. In this study, the characteristics of rain penetration through a ventilator were examined as a preliminary study to develop a ventilator with the maximum exhaust capacity while minimizing rain penetration. A model ventilator was built and exposed to artificial rain and wind. The paths, intensities and amounts of penetration through the ventilator were observed and measured in qualitative and quantitative fashions. In the first phase, the pathways and intensities of rain penetration were visually observed. In the second phase, the amounts of rain penetration were quantitatively measured under the different configurations of ventilator components that were installed based on the information obtained in the first-phase experiment. The effects of wind speed, grill direction, rain drainage width, outer wall height, neck height and leaning angle of the outer wall from the vertical position were analyzed. Wind speed significantly affected rain penetration. Under the low crosswind conditions, the rain penetration intensities were under the limit of detection. Under the high crosswind conditions, grill direction and neck height were the most significant factors in reducing rain penetration. The installation of rain drainage was also important in reducing rain penetration. The experimental results suggest that, with proper configurations of its components, a gravity ventilator can be used for natural ventilation without significant rain penetration problems.

Enfermedad poliquística autosómica recesiva Recessive autosomal polycystic disease

Directory of Open Access Journals (Sweden)

Sandalio Durán Álvarez

2007-06-01

Full Text Available Como enfermedades renales poliquísticas hereditarias se describen clásicamente la autosómica recesiva y la autosómica dominante, mal llamadas enfermedad poliquística de tipo infantily de;tipo adulto, respectivamente, pues ambas pueden verse tanto en una como en otra edad. Los conceptos cambiantes en cuanto a la enfermedad autosómica recesiva, dados por los progresos en el tratamiento de los recién nacidos con la enfermedad, y la localización del gen, que por su mutación la produce, nos motivan hacer esta breve revisión con la finalidad de contribuir a la comprensión de la enfermedad por los estudiantes de medicina y el médico general básico.Recessive autosomal and dominant autosomal polycystic kidney diseases are classically described as hereditary illnesses; they are also called polycystic disease of child type” and of adult typerespectively since both may be seen in any of these two life stages. The changing concepts of recessive autosomal disease, given the advances made in the treatment of newborns with this disease, and the location of the gen, the mutation of which causes it, encouraged us to make a brief literature review to help medical students and general practitioners to understand this disease.

Genetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province

Directory of Open Access Journals (Sweden)

Milad Bastami

2012-04-01

Full Text Available Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamadan province. Families were included a total of 60 patients (39 male and 21 female whose intellectual disability had been confirmed by Raven IQ test. Each family was asked for clinical examination and getting consent form. Blood sample was collected from each family. One proband from each family was tested for CGG repeat expansion in FMR1 gene, chromosomal abnormalities and inborn errors of metabolism. We also performed homozygosity mapping based on STR markers for seven known MCPH loci in families with primary microcephaly and AR-ID. Results: Five families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed one family with Medium Chain Acyl CoA Dehydrogenase deficiency. None of three families with primary microcephaly and AR-ID showed linkage to any of known seven MCPH loci. Conclusion: The main causes of ID in Hamadan province were Fragile X syndrome and Autosomal Recessive Primary Microcephaly with the frequencies of 20% and 12%, respectively.

Potential Effect and Analysis of High Residential Solar Photovoltaic (PV Systems Penetration to an Electric Distribution Utility (DU

Directory of Open Access Journals (Sweden)

Jeffrey Tamba Dellosa

2016-11-01

Full Text Available The Renewable Energy Act of 2008 in the Philippines provided an impetus for residential owners to explore solar PV installations at their own rooftops through the Net-Metering policy. The Net-Metering implementation through the law however presented some concerns with inexperienced electric DU on the potential effect of high residential solar PV system installations. It was not known how a high degree of solar integration to the grid can possibly affect the operations of the electric DU in terms of energy load management. The primary objective of this study was to help the local electric DU in the analysis of the potential effect of high residential solar PV system penetration to the supply and demand load profile in an electric distribution utility (DU grid in the province of Agusan del Norte, Philippines. The energy consumption profiles in the year 2015 were obtained from the electric DU operating in the area. An average daily energy demand load profile was obtained from 0-hr to the 24th hour of the day based from the figures provided by the electric DU. The assessment part of the potential effect of high solar PV system integration assumed four potential total capacities from 10 Mega Watts (MW to 40 MW generated by all subscribers in the area under study at a 10 MW interval. The effect of these capacities were measured and analyzed with respect to the average daily load profile of the DU. Results of this study showed that a combined installations beyond 20 MWp coming from all subscribers is not viable for the local electric DU based on their current energy demand or load profile. Based from the results obtained, the electric DU can make better decisions in the management of high capacity penetration of solar PV systems in the future, including investment in storage systems when extra capacities are generated. Article History: Received July 15th 2016; Received in revised form Sept 23rd 2016; Accepted Oct 1st 2016; Available online How to Cite

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

NARCIS (Netherlands)

Avrahami, L.; Maas, S.; Pasmanik-Chor, M.; Rainshtein, L.; Magal, N.; Smitt, J. H. S.; van Marle, J.; Shohat, M.; Basel-Vanagaite, L.

2008-01-01

Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease

Projectile penetration into ballistic gelatin.

Science.gov (United States)

Swain, M V; Kieser, D C; Shah, S; Kieser, J A

2014-01-01

Ballistic gelatin is frequently used as a model for soft biological tissues that experience projectile impact. In this paper we investigate the response of a number of gelatin materials to the penetration of spherical steel projectiles (7 to 11mm diameter) with a range of lower impacting velocities (projectile velocity are found to be linear for all systems above a certain threshold velocity required for initiating penetration. The data for a specific material impacted with different diameter spheres were able to be condensed to a single curve when the penetration depth was normalised by the projectile diameter. When the results are compared with a number of predictive relationships available in the literature, it is found that over the range of projectiles and compositions used, the results fit a simple relationship that takes into account the projectile diameter, the threshold velocity for penetration into the gelatin and a value of the shear modulus of the gelatin estimated from the threshold velocity for penetration. The normalised depth is found to fit the elastic Froude number when this is modified to allow for a threshold impact velocity. The normalised penetration data are found to best fit this modified elastic Froude number with a slope of 1/2 instead of 1/3 as suggested by Akers and Belmonte (2006). Possible explanations for this difference are discussed. © 2013 Published by Elsevier Ltd.

Gorlin‑Goltz Syndrome | Mehta | Annals of Medical and Health ...

African Journals Online (AJOL)

The Gorlin‑Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar ...

Optimal LFC SMC for three – area power system with high penetration of PV

Directory of Open Access Journals (Sweden)

Maksymilian Klimontowicz

2016-03-01

Full Text Available Electrical power systems are subjected to new trends appearing in grid structuring, electrical power sources, new control strategies, etc. The introduction of inverterbased distributed energy resources to replace conventional synchronous machines depletes the mechanical inertia, and causing the system to become more sensitive to disturbances. This paper proposed a simple and reliable solution to assure sufficient frequency stability of electrical power systems when subjected to high penetration of decoupled distributed generation. To achieve this, a decentralized sliding mode control was designed to operate as a compensator for conventional load frequency controllers. Subsequently, PV farms and battery energy storage systems were interconnected. Simulated network under different configurations were conducted using MATLAB.

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

Science.gov (United States)

Pottier, C; Hannequin, D; Coutant, S; Rovelet-Lecrux, A; Wallon, D; Rousseau, S; Legallic, S; Paquet, C; Bombois, S; Pariente, J; Thomas-Anterion, C; Michon, A; Croisile, B; Etcharry-Bouyx, F; Berr, C; Dartigues, J-F; Amouyel, P; Dauchel, H; Boutoleau-Bretonnière, C; Thauvin, C; Frebourg, T; Lambert, J-C; Campion, D

2012-09-01

Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.

Costs and clinical quality among Medicare beneficiaries: associations with health center penetration of low-income residents.

Science.gov (United States)

Sharma, Ravi; Lebrun-Harris, Lydie A; Ngo-Metzger, Quyen

2014-01-01

Determine the association between access to primary care by the underserved and Medicare spending and clinical quality across hospital referral regions (HRRs). Data on elderly fee-for-service beneficiaries across 306 HRRs came from CMS' Geographic Variation in Medicare Spending and Utilization database (2010). We merged data on number of health center patients (HRSA's Uniform Data System) and number of low-income residents (American Community Survey). We estimated access to primary care in each HRR by "health center penetration" (health center patients as a proportion of low-income residents). We calculated total Medicare spending (adjusted for population size, local input prices, and health risk). We assessed clinical quality by preventable hospital admissions, hospital readmissions, and emergency department visits. We sorted HRRs by health center penetration rate and compared spending and quality measures between the high- and low-penetration deciles. We also employed linear regressions to estimate spending and quality measures as a function of health center penetration. The high-penetration decile had 9.7% lower Medicare spending ($926 per capita, p=0.01) than the low-penetration decile, and no different clinical quality outcomes. Compared with elderly fee-for-service beneficiaries residing in areas with low-penetration of health center patients among low-income residents, those residing in high-penetration areas may accrue Medicare cost savings. Limited evidence suggests that these savings do not compromise clinical quality.

Penetration of sub-micron aerosol droplets in composite cylindrical filtration elements

International Nuclear Information System (INIS)

Geurts, Bernard J.; Pratte, Pascal; Stolz, Steffen; Stabbert, Regina; Poux, Valerie; Nordlund, Markus; Winkelmann, Christoph

2011-01-01

Advection-diffusion transport of aerosol droplets in composite cylindrical filtration elements is analyzed and compared to experimental data. The penetration, characterizing the fraction of droplets that passes through the pores of a filtration element, is quantified for a range of flow rates. The advection-diffusion transport in a laminar Poiseuille flow is treated numerically for slender pores using a finite difference approach in cylindrical coordinates. The algebraic dependence of the penetration on the Peclet number as predicted theoretically, is confirmed by experimental findings at a variety of aspect ratios of the cylindrical pores. The effective penetration associated with a composite filtration element consisting of a set of parallel cylindrical pores is derived. The overall penetration of heterogeneous composite filtration elements shows an algebraic dependence to the fourth power on the radii of the individual pores that are contained. This gives rise to strong variations in the overall penetration in cases with uneven distributions of pore sizes, highly favoring filtration by the larger pores. The overall penetration is computed for a number of basic geometries, providing a point of reference for filtration design and experimental verification.

Nonoperative management of penetrating kidney injuries: a prospective audit.

Science.gov (United States)

Moolman, C; Navsaria, P H; Lazarus, J; Pontin, A; Nicol, A J

2012-07-01

The role of nonoperative management for penetrating kidney injuries is unknown. Therefore, we review the management and outcome of penetrating kidney injuries at a center with a high incidence of penetrating trauma. Data from all patients presenting with hematuria and/or kidney injury discovered on imaging or at surgery admitted to the trauma center at Groote Schuur Hospital in Cape Town, South Africa during a 19-month period (January 2007 to July 2008) were prospectively collected and reviewed. These data were analyzed for demographics, injury mechanism, perioperative management, nephrectomy rate and nonoperative success. Patients presenting with hematuria and with an acute abdomen underwent a single shot excretory urogram. Those presenting with hematuria without an indication for laparotomy underwent computerized tomography with contrast material. A total of 92 patients presented with hematuria following penetrating abdominal trauma. There were 75 (80.4%) proven renal injuries. Of the patients 84 were men and the median age was 26 years (range 14 to 51). There were 50 stab wounds and 42 gunshot renal injuries. Imaging modalities included computerized tomography in 60 cases and single shot excretory urography in 18. There were 9 patients brought directly to the operating room without further imaging. A total of 47 patients with 49 proven renal injuries were treated nonoperatively. In this group 4 patients presented with delayed hematuria, of whom 1 had a normal angiogram and 3 underwent successful angioembolization of arteriovenous fistula (2) and false aneurysm (1). All nonoperatively managed renal injuries were successfully treated without surgery. There were 18 nephrectomies performed for uncontrollable bleeding (11), hilar injuries (2) and shattered kidney (3). Post-nephrectomy complications included 1 infected renal bed hematoma requiring percutaneous drainage. Of the injuries found at laparotomy 12 were not explored, 2 were drained and 5 were treated with

A further patient with Pai syndrome with autosomal dominant inheritance?

OpenAIRE

Rudnik-Schöneborn, S; Zerres, K

1994-01-01

We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.

The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients.

Science.gov (United States)

Ince Gunal, D; Agan, K; Afsar, N; Borucu, D; Us, O

2008-04-01

Autosomal dominant cerebellar ataxias are clinically and genetically heterogeneous neurodegenerative disorders. There is no known treatment to prevent neuronal cell death in these disorders. Current treatment is purely symptomatic; ataxia is one of the most disabling symptoms and represents the main therapeutic challenge. A previous case report suggesting benefit from administration of high dose piracetam inspired the present study of the efficacy of this agent in patients with cerebellar ataxia. Piracetam is a low molecular weight derivative of gamma-aminobutyric acid. Although little is known of its mode of action, its efficacy has been documented in a wide range of clinical indications, such as cognitive disorders, dementia, vertigo and dyslexia, as well as cortical myoclonus. The present report investigated the role of high dose piracetam in patients with cerebellar ataxia. Eight patients with autosomal dominant cerebellar ataxia were given intravenous piracetam 60 g/day by a structured protocol for 14 days. The baseline and end-of-the study evaluations were based on the International Cooperative Ataxia Rating Scale. Statistical analysis demonstrated a significant improvement in the patients' total score (P = 0.018) and a subscale analysis showed statistical significance for only the posture and gait disturbances item (P = 0.018). This study is providing good clinical observation in favour of high dose piracetam infusion to reduce the disability of the patients by improving their gait ataxia.

The Basics of Hacking and Penetration Testing Ethical Hacking and Penetration Testing Made Easy

CERN Document Server

Engebretson, Patrick

2011-01-01

The Basics of Hacking and Penetration Testing serves as an introduction to the steps required to complete a penetration test or perform an ethical hack. You learn how to properly utilize and interpret the results of modern day hacking tools; which are required to complete a penetration test. Tool coverage will include, Backtrack Linux, Google, Whois, Nmap, Nessus, Metasploit, Netcat, Netbus, and more. A simple and clean explanation of how to utilize these tools will allow you  to gain a solid understanding of each of the four phases and prepare them to take on more in-depth texts and topi

Turbulent penetration in T-junction branch lines with leakage flow

Energy Technology Data Exchange (ETDEWEB)

Kickhofel, John, E-mail: kickhofel@lke.mavt.ethz.ch; Valori, Valentina, E-mail: v.valori@tudelft.nl; Prasser, H.-M., E-mail: prasser@lke.mavt.ethz.ch

2014-09-15

Highlights: • New T-junction facility designed for adiabatic high velocity ratio mixing studies. • Trends in scalar mixing RMS and average in branch line presented and discussed. • Turbulent penetration has unique power spectrum relevant to thermal fatigue. • Forced flow oscillations translate to peaks in power spectrum in branch line. - Abstract: While the study of T-junction mixing with branch velocity ratios of near 1, so called cross flow mixing, is well advanced, to the point of realistic reactor environment fluid–structure interaction experiments and CFD benchmarking, turbulent penetration studies remain an under-researched threat to primary circuit piping. A new facility has been constructed for the express purpose of studying turbulent penetration in branch lines of T-junctions in the context of the high cycle thermal fatigue problem in NPPs. Turbulent penetration, which may be the result of a leaking valve in a branch line or an unisolable branch with heat losses, induces a thermal cycling region which may result in high cycle fatigue damage and failures. Leakage flow experiments have been performed in a perpendicular T-junction in a horizontal orientation with 50 mm diameter main pipe and branch pipe at velocity ratios (main/branch) up to 400. Wire mesh sensors are used as a means of measuring the mixing scalar in adiabatic tests with deionized and tap water. The near-wall region of highest scalar fluctuations is seen to vary circumferentially and in depth in the branch a great deal depending on the velocity ratio. The power spectra of the mixing scalar in the region of turbulent penetration are found to be dominated by high amplitude fluctuations at low frequencies, of particular interest to thermal fatigue. Artificial velocity oscillations in the main pipe manifest in the mixing spectra in the branch line in the form of a peak, the magnitude of which grows with increasing local RMS.

Ground penetrating radar

CERN Document Server

Daniels, David J

2004-01-01

Ground-penetrating radar has come to public attention in recent criminal investigations, but has actually been a developing and maturing remote sensing field for some time. In the light of recent expansion of the technique to a wide range of applications, the need for an up-to-date reference has become pressing. This fully revised and expanded edition of the best-selling Surface-Penetrating Radar (IEE, 1996) presents, for the non-specialist user or engineer, all the key elements of this technique, which span several disciplines including electromagnetics, geophysics and signal processing. The

Plutonium in depleted uranium penetrators

International Nuclear Information System (INIS)

McLaughlin, J.P.; Leon-Vintro, L.; Smith, K.; Mitchell, P.I.; Zunic, Z.S.

2002-01-01

Depleted Uranium (DU) penetrators used in the recent Balkan conflicts have been found to be contaminated with trace amounts of transuranic materials such as plutonium. This contamination is usually a consequence of DU fabrication being carried out in facilities also using uranium recycled from spent military and civilian nuclear reactor fuel. Specific activities of 239+240 Plutonium generally in the range 1 to 12 Bq/kg have been found to be present in DU penetrators recovered from the attack sites of the 1999 NATO bombardment of Kosovo. A DU penetrator recovered from a May 1999 attack site at Bratoselce in southern Serbia and analysed by University College Dublin was found to contain 43.7 +/- 1.9 Bq/kg of 239+240 Plutonium. This analysis is described. An account is also given of the general population radiation dose implications arising from both the DU itself and from the presence of plutonium in the penetrators. According to current dosimetric models, in all scenarios considered likely ,the dose from the plutonium is estimated to be much smaller than that due to the uranium isotopes present in the penetrators. (author)

Optimizing the U.S. Electric System with a High Penetration of Renewables

Science.gov (United States)

Corcoran, B. A.; Jacobson, M. Z.

2013-12-01

As renewable energy generators are increasingly being installed throughout the U.S., there is growing interest in interconnecting diverse renewable generators (primarily wind and solar) across large geographic areas through an enhanced transmission system. This reduces variability in the aggregate power output, increases system reliability, and allows for the development of the best overall group of renewable technologies and sites to meet the load. Studies are therefore needed to determine the most efficient and economical plan to achieve large area interconnections in a future electric system with a high penetration of renewables. This research quantifies the effects of aggregating electric load together with diverse renewable generation throughout the ten Federal Energy Regulatory Commission (FERC) regions in the contiguous U.S. A deterministic linear program has been built in AMPL (A Mathematical Programming Language) to solve for the least-cost organizational structure and system (generators, transmission, and storage) for a highly renewable electric grid. The analysis will 1) examine a highly renewable 2006 electric system, including various sensitivity cases and additional system components such as additional load from electric vehicles, and 2) create a 'roadmap' from the existing 2006 system to a highly renewable system in 2030, accounting for projected price and demand changes and generator retirements based on age and environmental regulations. Ideally, results from this study will offer insight for a federal renewable energy policy (such as a renewable portfolio standard) and how to best organize U.S. regions for transmission planning.

Retaining the Value of PV at High Penetration Workshop

Energy Technology Data Exchange (ETDEWEB)

Kurtz, Sarah; Bolen, Michael

2017-01-19

PV prices have dropped and are now attractive without incentives for peaking applications in some locations. Modeling suggests and, empirically, some regions demonstrate that as PV penetration increases its value decreases, predominantly due to a decrease in energy and capacity value. It is not apparent what technologies and price may be needed for PV to supply tens of percent of electricity in the most economically efficient manner. A 1-day workshop was co-sponsored by EPRI and NREL with support from ASU. A dozen presentations and discussions introduced how the interplay of various technologies impact the value of PV, identified technical challenges and gaps impeding implementation, and discussed future R&D needs and opportunities.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

NARCIS (Netherlands)

Lesage, S.; Drouet, V.; Majounie, E.; Deramecourt, V.; Jacoupy, M.; Nicolas, A.; Cormier-Dequaire, F.; Hassoun, S.M.; Pujol, C.; Ciura, S.; Erpapazoglou, Z.; Usenko, T.; Maurage, C.A.; Sahbatou, M.; Liebau, S.; Ding, J.; Bilgic, B.; Emre, M.; Erginel-Unaltuna, N.; Guven, G.; Tison, F.; Tranchant, C.; Vidailhet, M.; Corvol, J.C.; Krack, P.; Leutenegger, A.L.; Nalls, M.A.; Hernandez, D.G.; Heutink, P.; Gibbs, J.R.; Hardy, J.; Wood, N.W.; Gasser, T.; Durr, A.; Deleuze, J.F.; Tazir, M.; Destee, A.; Lohmann, E.; Kabashi, E.; Singleton, A.; Corti, O.; Brice, A.; Scheffer, H.; Bloem, B.R.; et al.,

2016-01-01

Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Directory of Open Access Journals (Sweden)

Rowell HA

2012-12-01

Full Text Available Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The purpose of this study was to describe the clinical findings in a set of monozygotic twins with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV over a 23-year period.Methods: A pair of female twins were examined between 26 and 49 years of age. The concordance and discordance of their clinical features were determined. The CAPN5 gene was sequenced using genomic DNA.Results: Both twins of an affected father demonstrated Stage I ADNIV with mild vitreous cells and a negative b-wave on electroretinography. Genetic analysis confirmed a guanine to thymine nucleotide (c.728G>T, pArg243Leu mutation in the CAPN5 gene. Over the course of 23 years, each twin progressed to stage III disease, showing posterior uveitis, cystoid macular edema, intraocular fibrosis, early retinal neovascularization, retinal degeneration, and cataract. Disease progression varied moderately between each twin and was asymmetrical between eyes. Twin A had 20/70 and 20/125 in the right and left eye, respectively, and underwent vitrectomy surgery and intravitreal injections with bevacizumab for recurrent cystoid macular edema. Twin B maintained 20/20 and 20/40 in the right and left eye, respectively without intervention.Conclusion: There was asymmetry between the eyes and some discordance in the rate of disease progression in these monozygotic twins with ADNIV. The overall high disease concordance suggests genetic factors play a major role in clinical manifestations in CAPN5 vitreoretinopathy.Keywords: autosomal dominant neovascular inflammatory vitreoretinopathy, ADNIV, CAPN5, calpain-5, monozygotic twins

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.

Directory of Open Access Journals (Sweden)

Huiling He

Full Text Available Thyroid cancer shows high heritability but causative genes remain largely unknown. According to a common hypothesis the genetic predisposition to thyroid cancer is highly heterogeneous; being in part due to many different rare alleles. Here we used linkage analysis and targeted deep sequencing to detect a novel single-nucleotide mutation in chromosome 4q32 (4q32A>C in a large pedigree displaying non-medullary thyroid carcinoma (NMTC. This mutation is generally ultra-rare; it was not found in 38 NMTC families, in 2676 sporadic NMTC cases or 2470 controls. The mutation is located in a long-range enhancer element whose ability to bind the transcription factors POU2F and YY1 is significantly impaired, with decreased activity in the presence of the C- allele compared with the wild type A-allele. An enhancer RNA (eRNA is transcribed in thyroid tissue from this region and is greatly downregulated in NMTC tumors. We suggest that this is an example of an ultra-rare mutation predisposing to thyroid cancer with high penetrance.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Science.gov (United States)

Bhola, Priya T; Hartley, Taila; Bareke, Eric; Boycott, Kym M; Nikkel, Sarah M; Dyment, David A

2017-06-01

De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.

Prediction of Weld Penetration in FCAW of HSLA steel using Artificial Neural Networks

International Nuclear Information System (INIS)

Asl, Y. Dadgar; Mostafa, N. B.; Panahizadeh, V. R.; Seyedkashi, S. M. H.

2011-01-01

Flux-cored arc welding (FCAW) is a semiautomatic or automatic arc welding process that requires a continuously-fed consumable tubular electrode containing a flux. The main FCAW process parameters affecting the depth of penetration are welding current, arc voltage, nozzle-to-work distance, torch angle and welding speed. Shallow depth of penetration may contribute to failure of a welded structure since penetration determines the stress-carrying capacity of a welded joint. To avoid such occurrences; the welding process parameters influencing the weld penetration must be properly selected to obtain an acceptable weld penetration and hence a high quality joint. Artificial neural networks (ANN), also called neural networks (NN), are computational models used to express complex non-linear relationships between input and output data. In this paper, artificial neural network (ANN) method is used to predict the effects of welding current, arc voltage, nozzle-to-work distance, torch angle and welding speed on weld penetration depth in gas shielded FCAW of a grade of high strength low alloy steel. 32 experimental runs were carried out using the bead-on-plate welding technique. Weld penetrations were measured and on the basis of these 32 sets of experimental data, a feed-forward back-propagation neural network was created. 28 sets of the experiments were used as the training data and the remaining 4 sets were used for the testing phase of the network. The ANN has one hidden layer with eight neurons and is trained after 840 iterations. The comparison between the experimental results and ANN results showed that the trained network could predict the effects of the FCAW process parameters on weld penetration adequately.

Evidence of weak pair coupling in the penetration depth of bi-based high-Tc superconductors

International Nuclear Information System (INIS)

Thompson, J.R.; Sun, Yang Ren; Ossandon, J.G.; Christen, D.K.; Chakoumakos, B.C.; Sales, B.C.; Kerchner, H.R.; Sonder, E.

1990-01-01

The magnetic penetration depth λ(T) has been investigated in Bi(Pb)SrCaCuO high-T c compounds having 2- and 3-layers of copper-oxygen per unit cell. Studies of the magnetization in the vortex state were employed and the results were compared with weak and strong coupling calculations. The temperature dependence of λ is described well by BCS theory in the clean limit, giving evidence for weak pair coupling in this family of materials. For the short component of the λ tensor, we obtain values of 292 and 220 nm (T = 0) for Bi-2212 and (BiPb)-2223, respectively

Capacity Payments in Restructured Markets under Low and High Penetration Levels of Renewable Energy

Energy Technology Data Exchange (ETDEWEB)

Thomas Jenkin, Philipp Beiter, and Robert Margolis

2016-02-01

Growing levels of variable renewable energy resources arguably create new challenges for capacity market designs, because variable renewable energy suppresses wholesale energy prices while providing relatively little capacity. This effect becomes more pronounced the higher the variable renewable energy penetration in a market. The purpose of this report is threefold. First, we provide a brief outline of the purpose and design of various capacity markets using administratively determined capacity demand curves. Second, we discuss some of the main challenges raised in existing literature and a set of interviews that we conducted with market participants, regulators, and observers. Third, we consider some of the challenges to capacity markets that arise with higher variable renewable energy penetration.

Ethical Dilemmas and Dimensions in Penetration Testing

OpenAIRE

Faily, Shamal; McAlaney, John; Iacob, C.

2015-01-01

Penetration testers are required to attack systems to evaluate their security, but without engaging in unethical behaviour while doing so. Despite work on hacker values and studies into security practice, there is little literature devoted to the ethical pressures associated with penetration testing. This paper presents several ethical dilemmas and dimensions associated with penetration testing;\\ud these shed light on the ethical positions taken by Penetration testers, and help identify poten...

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

NARCIS (Netherlands)

van der Kooi, A. J.; Ledderhof, T. M.; de Voogt, W. G.; Res, C. J.; Bouwsma, G.; Troost, D.; Busch, H. F.; Becker, A. E.; de Visser, M.

1996-01-01

Sixty-five members of three families with limb girdle muscular dystrophy (LGMD) underwent neurological, cardiological, and ancillary investigations. Thirty-five individuals were diagnosed as having slowly progressive autosomal dominant LGMD. Symmetrical weakness started in the proximal lower limb

Left frontal hub connectivity delays cognitive impairment in autosomal-dominant and sporadic Alzheimer’s disease

Science.gov (United States)

Franzmeier, Nicolai; Düzel, Emrah; Jessen, Frank; Buerger, Katharina; Levin, Johannes; Duering, Marco; Dichgans, Martin; Haass, Christian; Suárez-Calvet, Marc; Fagan, Anne M; Paumier, Katrina; Benzinger, Tammie; Masters, Colin L; Morris, John C; Perneczky, Robert; Janowitz, Daniel; Catak, Cihan; Wolfsgruber, Steffen; Wagner, Michael; Teipel, Stefan; Kilimann, Ingo; Ramirez, Alfredo; Rossor, Martin; Jucker, Mathias; Chhatwal, Jasmeer; Spottke, Annika; Boecker, Henning; Brosseron, Frederic; Falkai, Peter; Fliessbach, Klaus; Heneka, Michael T; Laske, Christoph; Nestor, Peter; Peters, Oliver; Fuentes, Manuel; Menne, Felix; Priller, Josef; Spruth, Eike J; Franke, Christiana; Schneider, Anja; Kofler, Barbara; Westerteicher, Christine; Speck, Oliver; Wiltfang, Jens; Bartels, Claudia; Araque Caballero, Miguel Ángel; Metzger, Coraline; Bittner, Daniel; Weiner, Michael; Lee, Jae-Hong; Salloway, Stephen; Danek, Adrian; Goate, Alison; Schofield, Peter R; Bateman, Randall J; Ewers, Michael

2018-01-01

Abstract Patients with Alzheimer’s disease vary in their ability to sustain cognitive abilities in the presence of brain pathology. A major open question is which brain mechanisms may support higher reserve capacity, i.e. relatively high cognitive performance at a given level of Alzheimer’s pathology. Higher functional MRI-assessed functional connectivity of a hub in the left frontal cortex is a core candidate brain mechanism underlying reserve as it is associated with education (i.e. a protective factor often associated with higher reserve) and attenuated cognitive impairment in prodromal Alzheimer’s disease. However, no study has yet assessed whether such hub connectivity of the left frontal cortex supports reserve throughout the evolution of pathological brain changes in Alzheimer’s disease, including the presymptomatic stage when cognitive decline is subtle. To address this research gap, we obtained cross-sectional resting state functional MRI in 74 participants with autosomal dominant Alzheimer’s disease, 55 controls from the Dominantly Inherited Alzheimer’s Network and 75 amyloid-positive elderly participants, as well as 41 amyloid-negative cognitively normal elderly subjects from the German Center of Neurodegenerative Diseases multicentre study on biomarkers in sporadic Alzheimer’s disease. For each participant, global left frontal cortex connectivity was computed as the average resting state functional connectivity between the left frontal cortex (seed) and each voxel in the grey matter. As a marker of disease stage, we applied estimated years from symptom onset in autosomal dominantly inherited Alzheimer’s disease and cerebrospinal fluid tau levels in sporadic Alzheimer’s disease cases. In both autosomal dominant and sporadic Alzheimer’s disease patients, higher levels of left frontal cortex connectivity were correlated with greater education. For autosomal dominant Alzheimer’s disease, a significant left frontal cortex connectivity �

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

NARCIS (Netherlands)

Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J.

2004-01-01

Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

NARCIS (Netherlands)

Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J.

2004-01-01

Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant

Cost allocation model for distribution networks considering high penetration of distributed energy resources

DEFF Research Database (Denmark)

Soares, Tiago; Pereira, Fábio; Morais, Hugo

2015-01-01

The high penetration of distributed energy resources (DER) in distribution networks and the competitive environment of electricity markets impose the use of new approaches in several domains. The network cost allocation, traditionally used in transmission networks, should be adapted and used...... in the distribution networks considering the specifications of the connected resources. The main goal is to develop a fairer methodology trying to distribute the distribution network use costs to all players which are using the network in each period. In this paper, a model considering different type of costs (fixed......, losses, and congestion costs) is proposed comprising the use of a large set of DER, namely distributed generation (DG), demand response (DR) of direct load control type, energy storage systems (ESS), and electric vehicles with capability of discharging energy to the network, which is known as vehicle...

Electric Vehicles for Improved Operation of Power Systems with High Wind Power Penetration

DEFF Research Database (Denmark)

Larsen, Esben; Chandrashekhara, Divya K; Østergaard, Jacob

2008-01-01

In a power system with a high share of wind energy the wind fluctuation causes a variation in the power generation, which must be compensated from other sources. The situation in Denmark with a penetration of more than 20% wind in yearly average is presented. The introduction of electric drive...... vehicles (EDV) as flexible loads can improve the system operation. Bidirectional power exchange through batteries (vehicle to grid) can be seen as a storage system in the grid. An analysis of possible economical incentives for the vehicle owners will be shown. By control of EDV charging through a price...... signal from the day ahead market the economical incentives for an EDV-owner will be small. If the EDV's can participate in the regulation of the grid through ancillary services the incentives will be increased to an attractive level....

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

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Rafael Fabiano Machado Rosa

Full Text Available CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives. The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.

A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Directory of Open Access Journals (Sweden)

Cheema Abdul

2008-11-01

Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

Skull penetrating wound

International Nuclear Information System (INIS)

Gonzalez Orlandi, Yvei; Junco Martin, Reinel; Rojas Manresa, Jorge; Duboy Limonta, Victor; Matos Herrera, Omar; Saez Corvo, Yunet

2011-01-01

The cranioencephalic trauma is common in the emergence centers to care for patients with multiple traumata and it becames in a health problem in many countries. Skull penetrating trauma is located in a special place due to its low frequency. In present paper a case of male patient aged 52 severely skull-injured with penetrating wound caused by a cold steel that remained introduced into the left frontotemporal region. After an imaging study the emergence surgical treatment was applied and patient evolves adequately after 25 days of hospitalization. Nowadays, she is under rehabilitation treatment due to a residual right hemiparesis.(author)

Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia.

Science.gov (United States)

Fedorova, Sardana A; Reidla, Maere; Metspalu, Ene; Metspalu, Mait; Rootsi, Siiri; Tambets, Kristiina; Trofimova, Natalya; Zhadanov, Sergey I; Hooshiar Kashani, Baharak; Olivieri, Anna; Voevoda, Mikhail I; Osipova, Ludmila P; Platonov, Fedor A; Tomsky, Mikhail I; Khusnutdinova, Elza K; Torroni, Antonio; Villems, Richard

2013-06-19

Sakha--an area connecting South and Northeast Siberia--is significant for understanding the history of peopling of Northeast Eurasia and the Americas. Previous studies have shown a genetic contiguity between Siberia and East Asia and the key role of South Siberia in the colonization of Siberia. We report the results of a high-resolution phylogenetic analysis of 701 mtDNAs and 318 Y chromosomes from five native populations of Sakha (Yakuts, Evenks, Evens, Yukaghirs and Dolgans) and of the analysis of more than 500,000 autosomal SNPs of 758 individuals from 55 populations, including 40 previously unpublished samples from Siberia. Phylogenetically terminal clades of East Asian mtDNA haplogroups C and D and Y-chromosome haplogroups N1c, N1b and C3, constituting the core of the gene pool of the native populations from Sakha, connect Sakha and South Siberia. Analysis of autosomal SNP data confirms the genetic continuity between Sakha and South Siberia. Maternal lineages D5a2a2, C4a1c, C4a2, C5b1b and the Yakut-specific STR sub-clade of Y-chromosome haplogroup N1c can be linked to a migration of Yakut ancestors, while the paternal lineage C3c was most likely carried to Sakha by the expansion of the Tungusic people. MtDNA haplogroups Z1a1b and Z1a3, present in Yukaghirs, Evens and Dolgans, show traces of different and probably more ancient migration(s). Analysis of both haploid loci and autosomal SNP data revealed only minor genetic components shared between Sakha and the extreme Northeast Siberia. Although the major part of West Eurasian maternal and paternal lineages in Sakha could originate from recent admixture with East Europeans, mtDNA haplogroups H8, H20a and HV1a1a, as well as Y-chromosome haplogroup J, more probably reflect an ancient gene flow from West Eurasia through Central Asia and South Siberia. Our high-resolution phylogenetic dissection of mtDNA and Y-chromosome haplogroups as well as analysis of autosomal SNP data suggests that Sakha was colonized by

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

Science.gov (United States)

Dinani, N; Ali, M; Liu, L; McGrath, J; Mellerio, J

2017-04-01

Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB. © 2017 British Association of Dermatologists.

Allele frequency distribution for 21 autosomal STR loci in Nepal.

Science.gov (United States)

Kraaijenbrink, T; van Driem, G L; Opgenort, J R M L; Tuladhar, N M; de Knijff, P

2007-05-24

The allele frequency distributions of 21 autosomal loci contained in the AmpFlSTR Identifiler, the Powerplex 16 and the FFFL multiplex PCR kits, was studied in 953 unrelated individuals from Nepal. Several new alleles (i.e. not yet reported in the NIST Short Tandem Repeat DNA Internet DataBase [http://www.cstl.nist.gov/biotech/strbase/]) have been detected in the process.

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.

Science.gov (United States)

Horikawa, Yukio; Hosomichi, Kazuyoshi; Enya, Mayumi; Ishiura, Hiroyuki; Suzuki, Yutaka; Tsuji, Shoji; Sugano, Sumio; Inoue, Ituro; Takeda, Jun

2018-07-01

MODY 5 and 6 have been shown to be low-penetrant MODYs. As the genetic background of unknown MODY is assumed to be similar, a new analytical strategy is applied here to elucidate genetic predispositions to unknown MODY. We examined to find whether there are major MODY gene loci remaining to be identified using SNP linkage analysis in Japanese. Whole-exome sequencing was performed with seven families with typical MODY. Candidates for novel MODY genes were examined combined with in silico network analysis. Some peaks were found only in either parametric or non-parametric analysis; however, none of these peaks showed a LOD score greater than 3.7, which is approved to be the significance threshold of evidence for linkage. Exome sequencing revealed that three mutated genes were common among 3 families and 42 mutated genes were common in two families. Only one of these genes, MYO5A, having rare amino acid mutations p.R849Q and p.V1601G, was involved in the biological network of known MODY genes through the intermediary of the INS. Although only one promising candidate gene, MYO5A, was identified, no novel, high penetrant MODY genes might remain to be found in Japanese MODY.

Behavioral Retardation in a Macaque with Autosomal Trisomy and Aging Mother.

Science.gov (United States)

Waal, Frans B. M. de; And Others

1996-01-01

The social development of a female rhesus monkey was followed from birth until death, age 32 months. The monkey had an extra autosome and was hydrocephalic. The monkey showed serious motor deficiencies, delayed social development, poorly established dominance relationships, and heavy dependence on mother and kin. The monkey was, however, well…

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

OpenAIRE

Mahajan, D.; Votruba, Marcela

2017-01-01

NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity syndrome, clumped pigmentary retinal degeneration, Goldman-Favre syndrome and also autosomal dominant and autosomal recessive retinitis pigmentosa (RP). However, the mutation c 571 + 2 T > C in NR2E3 has not been previously reported with retinal d...

Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.

Science.gov (United States)

Bénichou, O D; Laredo, J D; de Vernejoul, M C

2000-01-01

Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalized osteosclerosis predominating in some skeletal sites such as the spine and pelvis. ADO II is rare, and most available clinical descriptions are based on small numbers of patients. We report the clinical and radiological manifestations in 42 ADO II patients. To our knowledge, this is the largest series reported so far. Our inclusion criterion was presence on radiographs of the spine of vertebral endplate thickening, producing the classic sandwich vertebra appearance. We found various patterns of sandwich vertebra, of which we provide a description to assist physicians in diagnosing ADO II. The classic bone-within-bone appearance was present in most but not all skeletal sites. The radiological penetrance of the disease was high (90%) and increased after 20 years of age. As many as 81% of our patients experienced clinical manifestations. Fractures were common (78% of patients) and healed slowly. Hip osteoarthritis developed in 27% of patients and required arthroplasty in 9 of the 16 affected hips. Nonmandibular osteomyelitis occurred in 4 cases (11%). Twenty-four percent of patients had thoracic or lumbar scoliosis. Orthopedic surgery was performed in 52.8% of patients, of whom half had at least three surgical procedures for internal fracture fixation, arthroplasty, limb deformity correction, or treatment of surgical complications. There was a high rate of surgical complications including nonunion, infection, prosthesis loosening, and intraoperative fractures. Nearly two-thirds of patients (64%) had stomatologic manifestations, including mandibular osteomyelitis in 4 patients (11%). Cranial nerve involvement responsible for hearing loss, bilateral optic atrophy, and/or facial palsy was present in 14 patients but was clearly attributable to ADO II in only 6 cases (16%). This large series sheds new light on several aspects of ADO II, most

FAA Fluorescent Penetrant Laboratory Inspections

Energy Technology Data Exchange (ETDEWEB)

WINDES,CONNOR L.; MOORE,DAVID G.

2000-08-02

The Federal Aviation Administration Airworthiness Assurance NDI Validation Center currently assesses the capability of various non-destructive inspection (NDI) methods used for analyzing aircraft components. The focus of one such exercise is to evaluate the sensitivity of fluorescent liquid penetrant inspection. A baseline procedure using the water-washable fluorescent penetrant method defines a foundation for comparing the brightness of low cycle fatigue cracks in titanium test panels. The analysis of deviations in the baseline procedure will determine an acceptable range of operation for the steps in the inspection process. The data also gives insight into the depth of each crack and which step(s) of the inspection process most affect penetrant sensitivities. A set of six low cycle fatigue cracks produced in 6.35-mm thick Ti-6Al-4V specimens was used to conduct the experiments to produce sensitivity data. The results will document the consistency of the crack readings and compare previous experiments to find the best parameters for water-washable penetrant.

Autosomal dominant craniometaphyseal dysplasia with atypical features.

Science.gov (United States)

McKay, D R; Fialkov, J A

2002-03-01

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. Copyright 2002 The British Association of Plastic Surgeons.

Van Der Woude Syndrome – A Report Of Two Cases | Umweni ...

African Journals Online (AJOL)

Two cases of Van der Woude syndrome, which presented in a mother and son are reported. The occurrence of isolated cleft palate in a sibling supports the evidence that Van der Woude syndrome is associated with a dominant autosomic gene of high penetrance and variable expressively. The occurrence of Van der ...

Correction of High Astigmatism after Penetrating Keratoplasty with Toric Multifocal Intraocular Lens Implantation

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Raffaele Nuzzi

2017-07-01

Full Text Available After penetrating keratoplasty (PK, high astigmatism is often induced, being frequently about 4–6 dpt. According to the entity and typology of astigmatism, different methods of correction can be used. Selective suture removal, relaxing incisions, wedge resections, compression sutures, photorefractive keratectomy, and laser-assisted in situ keratomileusis can reduce corneal astigmatism and ametropia, but meanwhile they can cause a reduction in the corneal integrity and cause an over- or undercorrection. In case of moderate-to-high regular astigmatisms, the authors propose a toric multifocal intraocular lens (IOL implantation to preserve the corneal integrity (especially in PK after herpetic corneal leukoma keratitis. We evaluated a 45-year-old patient who at the age of 30 was subjected to PK in his left eye due to corneal leukoma herpetic keratitis, which led to high astigmatism (7.50 dpt cyl. 5°. The patient was subjected to phacoemulsification and customized toric multifocal IOL implantation in his left eye. The correction of PK-induced residual astigmatism with a toric IOL implantation is an excellent choice but has to be evaluated in relation to patient age, corneal integrity, longevity graft, and surgical risk. It seems to be a well-tolerated therapeutic choice and with good results.

Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms

Directory of Open Access Journals (Sweden)

Tirupati S

2008-12-01

Full Text Available Abstract Background Major population movements, social structure, and caste endogamy have influenced the genetic structure of Indian populations. An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations. Results We report new data on 155 individuals from four Tamil caste populations of South India and perform comparative analyses with caste populations from the neighboring state of Andhra Pradesh. Genetic differentiation among Tamil castes is low (RST = 0.96% for 45 autosomal short tandem repeat (STR markers, reflecting a largely common origin. Nonetheless, caste- and continent-specific patterns are evident. For 32 lineage-defining Y-chromosome SNPs, Tamil castes show higher affinity to Europeans than to eastern Asians, and genetic distance estimates to the Europeans are ordered by caste rank. For 32 lineage-defining mitochondrial SNPs and hypervariable sequence (HVS 1, Tamil castes have higher affinity to eastern Asians than to Europeans. For 45 autosomal STRs, upper and middle rank castes show higher affinity to Europeans than do lower rank castes from either Tamil Nadu or Andhra Pradesh. Local between-caste variation (Tamil Nadu RST = 0.96%, Andhra Pradesh RST = 0.77% exceeds the estimate of variation between these geographically separated groups (RST = 0.12%. Low, but statistically significant, correlations between caste rank distance and genetic distance are demonstrated for Tamil castes using Y-chromosome, mtDNA, and autosomal data. Conclusion Genetic data from Y-chromosome, mtDNA, and autosomal STRs are in accord with historical accounts of northwest to southeast population movements in India. The influence of ancient and historical population movements and caste social structure can be detected and replicated in South Indian caste populations from two different geographic regions.

Penetrating performance and “self-sharpening” behavior of fine-grained tungsten heavy alloy rod penetrators

Energy Technology Data Exchange (ETDEWEB)

Luo, Rongmei, E-mail: luorm_1999@126.com [School of Energy and Power Engineering, Nanjing University of Science and Technology, Nanjing 210094, Jiangsu (China); College of Equipment Engineering, Shenyang Ligong University, Shenyang 110159, Liaoning (China); Huang, Dewu; Yang, Mingchuan; Tang, Enling; Wang, Meng; He, Liping [College of Equipment Engineering, Shenyang Ligong University, Shenyang 110159, Liaoning (China)

2016-10-15

Rod penetrators with 95W–3.75Ni–1.25Fe fine-grained tungsten heavy alloy (fine-grained 95W) and conventional tungsten heavy alloy rod penetrators with the same chemical composition (conventional 95W) were subjected to ballistic impact to compare their penetration performance. “Self-sharpening” behavior and an average 10.5% increase in penetration depth compared to conventional 95W penetrators. An acute head remained on the fine-grained 95W rod with SEM results revealing many micro-cracks and small debris on surface layer of the rod head. The stress-strain curves collected in the Split Hopkinson Pressure Bar (SHPB) experiment showed that critical failure strain values of the fine-grained 95W were 0.12 and 0.39 at strain rate of 2×10{sup 3} s{sup −1} and 3.9×10{sup 3} s{sup −1}, respectively, approximately 40% and 10% lower than those of the conventional 95W. The dynamic strength values of fine-grained 95W were 2100 MPa and 2520 MPa, respectively, which were 500 MPa and 520 MPa higher than those of the conventional 95W. The relationship among microstructure, mechanical property and “self-sharpening” behavior of fine-grained 95W is discussed in this work.

Genetic diversity of 21 autosomal STR loci in the Han population from Sichuan province, Southwest China.

Science.gov (United States)

He, Guanglin; Li, Ye; Wang, Zheng; Liang, Weibo; Luo, Haibo; Liao, Miao; Zhang, Ji; Yan, Jing; Li, Yingbi; Hou, Yiping; Wu, Jin

2017-11-01

Exploration of the ethnic origin and genetic differentiation of 56 Chinese officially recognized nationalities populations played a fundamental role in the research field of population genetics, forensic science, linguistics, anthropology, and archaeology. In the present study, population data of 21 autosomal STR loci (CSF1PO, D10S1248, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, D2S1338, D2S441, D3S1358, D5S818, D6S1043, D7S820, D8S1179, FGA, Penta D, Penta E, TH01, TPOX, and vWA) included in the AGCU EX22 kit in 2793 Southwest Han Chinese individuals was obtained and population genetic relationships among 28 Chinese populations were investigated. Our study indicated that the twenty-one autosomal STRs are highly polymorphic in the Sichuan Han population and can be used as a powerful tool in the routine forensic usage. MDS and phylogenetic analysis suggested that the Sichuan Han population kept a close genetic relationship with the southwest populations. Copyright © 2017 Elsevier B.V. All rights reserved.

Operating methods to remove the excess of penetrant in surface. Preponderant and characteristic part of water for water washable penetrants

International Nuclear Information System (INIS)

Dubosc, P.

1985-01-01

Penetrant use for quality control, although very well known (nuclear, space industries, offshore platforms) is often poorly practiced. This is largely due to a lack of understanding by the users the way that the different components of the system (penetrants, solvents, emulsifiers, and developers) function. In this talk, we shall explain a particular characteristic that the manufacturers of reputable penetrant seek to build into their water washable penetrants. It is a viscosity curve which has the function of keeping water in a well defined form. We show why the form of the curve is crucial, which reaction between water and penetrant it corresponds to, and we deduce the practical consequences of bringing into play procedures for removing excess penetrant with or without water [fr

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Science.gov (United States)

2011-01-01

Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations. Contribution of ASPM and WDR62 gene mutations in MCPH World wide is more than 50%. By and large, primary microcephaly patients are phenotypically indistinguishable, however, recent studies in patients with mutations in MCPH1, WDR62 and ASPM genes showed a broader clinical and/or cellular phenotype. It has been proposed that mutations in MCPH genes can cause the disease phenotype by disturbing: 1) orientation of mitotic spindles, 2) chromosome condensation mechanism during embryonic neurogenesis, 3) DNA damage-response signaling, 4) transcriptional regulations and microtubule dynamics, 5) certain unknown centrosomal mechanisms that control the number of neurons generated by neural precursor cells. Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. High incidence of MCPH in Pakistani population reflects the most probable involvement of consanguinity. Genetic counseling and clinical management through carrier detection/prenatal diagnosis in MCPH families can help reducing the incidence of this autosomal recessive disorder. PMID:21668957

Index-Based Assessment of Voltage Rise and Reverse Power Flow Phenomena in a Distribution Feeder Under High PV Penetration

DEFF Research Database (Denmark)

Hasheminamin, Maryam; Agelidis, Vassilios G.; Salehi, Vahid

2015-01-01

-based methodology for assessing the impact of high solar PV generation, considering the reverse power flow and voltage rise phenomena. Indices are defined that link these two phenomena and their impact on the voltage profile across the feeder. This assessment relies on detailed modeling of the network and the solar......The proliferation of photovoltaic (PV) generation in low- and medium-voltage distribution networks is expected to continue. Qualified studies can quantify adverse impacts of high PV penetration on distribution networks and assist utilities in decision making. This paper proposes an index...

Comparative genetic mapping in Fragaria virginiana reveals autosomal origin of sex chromosome

Science.gov (United States)

Although most flowering plants are hermaphrodite, separate sexes (dioecy) have evolved repeatedly. The evolution of sex chromosomes from autosomes can often, but not always, accompany this transition. Thus, many have argued that plant genera that contain both hermaphroditic and dioecious members pro...

Wind tunnel tests of a deep seabed penetrator model

International Nuclear Information System (INIS)

Visintini, L.; Murray, C.N.

1991-01-01

C.C.R. Euratom Ispra are currently involved in studies on the possibility of storing radioactive wastes in deep ocean sediment beds. The report summarizes the results of wind tunnel tests performed in March 1985 on a 1:2.5 scale model of a European Standard Penetrator in Aermacchi low speed wind tunnel. Tests covered the measurement of overall fluid dynamic forces at varying angle of attack and measurement of unsteady pressures acting on the instrumentation head protruding in the penetrator's wake. Overall force coefficients were found to be in good agreement with predictions. Unsteady pressures were found to be much smaller than expected so that no mechanical damage to instrumentation is to be foreseen even at the high dynamic pressures typical of the penetrator moving into water. The present work has been undertaken under contract 2450-84-08 ED ISP I of C.C.R. EURATOM ISPRA

Varieties of cognitive penetration in visual perception.

Science.gov (United States)

Vetter, Petra; Newen, Albert

2014-07-01

Is our perceptual experience a veridical representation of the world or is it a product of our beliefs and past experiences? Cognitive penetration describes the influence of higher level cognitive factors on perceptual experience and has been a debated topic in philosophy of mind and cognitive science. Here, we focus on visual perception, particularly early vision, and how it is affected by contextual expectations and memorized cognitive contents. We argue for cognitive penetration based on recent empirical evidence demonstrating contextual and top-down influences on early visual processes. On the basis of a perceptual model, we propose different types of cognitive penetration depending on the processing level on which the penetration happens and depending on where the penetrating influence comes from. Our proposal has two consequences: (1) the traditional controversy on whether cognitive penetration occurs or not is ill posed, and (2) a clear-cut perception-cognition boundary cannot be maintained. Copyright © 2014 Elsevier Inc. All rights reserved.

Influence of the impurities on the depth of penetration with carbon steel weldings

Directory of Open Access Journals (Sweden)

O. Savytsky

2014-04-01

Full Text Available In this paper the results of the research about the influence of the impurities on the depth of penetration with carbon steels weldings of different chemical composition are presented. These data suggest that presence of those impurities, such as sulphure and oxygen, in the steel, increases the depth of penetration to 1,3 - 1,5 times compared to welding refined steels. Applying activating fluxes for welding high tensile steels, provides an increase in the depth of penetration of 2 - 3 times.

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

Energy Technology Data Exchange (ETDEWEB)

Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

1995-12-04

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

Substructure of a Tunisian Berber population as inferred from 15 autosomal short tandem repeat loci.

Science.gov (United States)

Khodjet-El-Khil, Houssein; Fadhlaoui-Zid, Karima; Gusmão, Leonor; Alves, Cíntia; Benammar-Elgaaied, Amel; Amorim, Antonio

2008-08-01

Currently, language and cultural practices are the only criteria to distinguish between Berber autochthonous Tunisian populations. To evaluate these populations' possible genetic structure and differentiation, we have analyzed 15 autosomal short tandem repeat loci (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, VWA, D2S1338, and D19S433) in three southern Tunisian Berber groups: Sened, Matmata, and Chenini-Douiret. The exact test of population differentiation based on allele frequencies at the 15 loci shows significant P values at 7 loci between Chenini-Douiret and both Sened and Matmata, whereas just 5 loci show significant P values between Sened and Matmata. Comparative analyses between the three Berber groups based on genetic distances show that P values for F(ST) distances are significant between the three Berber groups. Population analysis performed using Structure shows a clear differentiation between these Berber groups, with strong genetic isolation of Chenini-Douiret. These results confirm at the autosomal level the high degree of heterogeneity of Tunisian Berber populations that had been previously reported for uniparental markers.

[Filtering facepieces: effect of oily aerosol load on penetration through the filtering material].

Science.gov (United States)

Plebani, Carmela; Listrani, S; Di Luigi, M

2010-01-01

Electrostatic filters are widely used in applications requiring high filtration efficiency and low pressure drop. However various studies showed that the penetration through electrostatic filters increases during exposure to an aerosol flow. This study investigates the effects of prolonged exposure to an oily aerosol on the penetration through filtering facepieces available on the market. Some samples of FFP1, FFP2 and FFP3 filtering facepieces were exposed for 8 hours consecutively to a paraffin oil polydisperse aerosol. At the end of the exposure about 830 mg of paraffin oil were deposited in the facepiece. All the examined facepieces showed penetration values that increased with paraffin oil load while pressure drop values were substantially the same before and after exposure. The measured maximum penetration values did not exceed the maximum penetration values allowed by the European technical standards, except in one case. According to the literature, 830 mg of oil load in a facepiece is not feasible in workplaces over an eight- hour shift. However, the trend of the penetration versus exposure mass suggests that if the load increases, the penetration may exceed the maximum allowed values. For comparison a mechanical filter was also studied. This showed an initial pressure drop higher than FFP2 filtering facepieces characterized by comparable penetration values. During exposure the pressure drop virtually doubled while penetration did not change. The increase in penetration with no increase in pressure drop in the analyzed facepieces indicates that it is necessary to comply with the information supplied by the manufacturer that restricts their use to a single shift.

Economic Operation of Power Systems with Significant Wind Power Penetration

DEFF Research Database (Denmark)

Farashbashi-Astaneh, Seyed-Mostafa

This dissertation addresses economic operation of power systems with high penetration of wind power. Several studies are presented to address the economic operation of power systems with high penetration of variable wind power. The main concern in such power systems is high variability...... and unpredictability. Unlike conventional power plants, the output power of a wind farm is not controllable. This brings additional complexity to operation and planning of wind dominant power systems. The key solution in face of wind power uncertainty is to enhance power system flexibility. The enhanced flexibility......, cooperative wind-storage operation is studied. Lithium-Ion battery units are chosen as storage units. A novel formulation is proposed to investigate optimal operation of a storage unit considering power system balancing conditions and wind power imbalances. An optimization framework is presented to increase...

The role of noise and positive feedback in the onset of autosomal dominant diseases

Directory of Open Access Journals (Sweden)

Bosl William J

2010-06-01

Full Text Available Abstract Background Autosomal dominant (AD diseases result when a single mutant or non-functioning gene is present on an autosomal chromosome. These diseases often do not emerge at birth. There are presently two prevailing theories explaining the expression of AD diseases. One explanation originates from the Knudson two-hit theory of hereditary cancers, where loss of heterozygosity or occurrence of somatic mutations impairs the function of the wild-type copy. While these somatic second hits may be sufficient for stable disease states, it is often difficult to determine if their occurrence necessarily marks the initiation of disease progression. A more direct consequence of a heterozygous genetic background is haploinsufficiency, referring to a lack of sufficient gene function due to reduced wild-type gene copy number; however, haploinsufficiency can involve a variety of additional mechanisms, such as noise in gene expression or protein levels, injury and second hit mutations in other genes. In this study, we explore the possible contribution to the onset of autosomal dominant diseases from intrinsic factors, such as those determined by the structure of the molecular networks governing normal cellular physiology. Results First, simple models of single gene insufficiency using the positive feedback loops that may be derived from a three-component network were studied by computer simulation using Bionet software. The network structure is shown to affect the dynamics considerably; some networks are relatively stable even when large stochastic variations in are present, while others exhibit switch-like dynamics. In the latter cases, once the network switches over to the disease state it remains in that state permanently. Model pathways for two autosomal dominant diseases, AD polycystic kidney disease and mature onset diabetes of youth (MODY were simulated and the results are compared to known disease characteristics. Conclusions By identifying the

Use of ground-penetrating radar techniques in archaeological investigations

Science.gov (United States)

Doolittle, James A.; Miller, W. Frank

1991-01-01

Ground-penetrating radar (GPR) techniques are increasingly being used to aid reconnaissance and pre-excavation surveys at many archaeological sites. As a 'remote sensing' tool, GPR provides a high resolution graphic profile of the subsurface. Radar profiles are used to detect, identify, and locate buried artifacts. Ground-penetrating radar provides a rapid, cost effective, and nondestructive method for identification and location analyses. The GPR can be used to facilitate excavation strategies, provide greater areal coverage per unit time and cost, minimize the number of unsuccessful exploratory excavations, and reduce unnecessary or unproductive expenditures of time and effort.

Demand side resource operation on the Irish power system with high wind power penetration

DEFF Research Database (Denmark)

Keane, A.; Tuohy, A.; Meibom, Peter

2011-01-01

part of the power system plant mix and contribute to the flexible operation of a power system. A model for demand side resources is proposed here that captures its key characteristics for commitment and dispatch calculations. The model is tested on the all island Irish power system, and the operation...... of the functions of conventional peaking plant. Demand side resources are also shown to be capable of improving the reliability of the system, with reserve capability identified as a key requirement in this respect....... of the model is simulated over one year in both a stochastic and deterministic mode, to illustrate the impact of wind and load uncertainty. The results illustrate that demand side resources can contribute to the efficient, flexible operation of systems with high penetrations of wind by replacing some...

Incorporating Charging/Discharging Strategy of Electric Vehicles into Security-Constrained Optimal Power Flow to Support High Renewable Penetration

Directory of Open Access Journals (Sweden)

Kyungsung An

2017-05-01

Full Text Available This research aims to improve the operational efficiency and security of electric power systems at high renewable penetration by exploiting the envisioned controllability or flexibility of electric vehicles (EVs; EVs interact with the grid through grid-to-vehicle (G2V and vehicle-to-grid (V2G services to ensure reliable and cost-effective grid operation. This research provides a computational framework for this decision-making process. Charging and discharging strategies of EV aggregators are incorporated into a security-constrained optimal power flow (SCOPF problem such that overall energy cost is minimized and operation within acceptable reliability criteria is ensured. Particularly, this SCOPF problem has been formulated for Jeju Island in South Korea, in order to lower carbon emissions toward a zero-carbon island by, for example, integrating large-scale renewable energy and EVs. On top of conventional constraints on the generators and line flows, a unique constraint on the system inertia constant, interpreted as the minimum synchronous generation, is considered to ensure grid security at high renewable penetration. The available energy constraint of the participating EV associated with the state-of-charge (SOC of the battery and market price-responsive behavior of the EV aggregators are also explored. Case studies for the Jeju electric power system in 2030 under various operational scenarios demonstrate the effectiveness of the proposed method and improved operational flexibility via controllable EVs.

PETA: Methodology of Information Systems Security Penetration Testing

Directory of Open Access Journals (Sweden)

Tomáš Klíma

2016-12-01

Full Text Available Current methodologies of information systems penetration testing focuses mainly on a high level and technical description of the testing process. Unfortunately, there is no methodology focused primarily on the management of these tests. It often results in a situation when the tests are badly planned, managed and the vulnerabilities found are unsystematically remediated. The goal of this article is to present new methodology called PETA which is focused mainly on the management of penetration tests. Development of this methodology was based on the comparative analysis of current methodologies. New methodology incorporates current best practices of IT governance and project management represented by COBIT and PRINCE2 principles. Presented methodology has been quantitatively evaluated.

Factors affecting flood insurance penetration in residential properties in Johor Malaysia

Science.gov (United States)

Godwin Aliagha, U.; Ewe Jin, T.; Weng Choong, W.; Nadzri Jaafar, M.

2014-04-01

High impact flood has virtually become an annual experience in Malaysia, yet flood insurance has remained a grossly neglected part of comprehensive integrated flood risk management. Using discriminant analysis, this study seeks to indentify the demand-side variables that best predict flood insurance penetration and risk aversion between two groups of residential homeowners in three districts of Johor State, Malaysia: those who purchased flood insurance and the group that did not. Our result revealed 34% penetration rate with Kota Tinggi district having the highest penetration (44%) and thus, the highest degree of flood risk aversion. The Wilks' Lambda F test for equality of group means, SCDFC, structure correlation and canonical correlation have clearly shown that there are strong significant attribute differences between the two groups of homeowners based on measures of objective flood risk exposure, subjective risk perception, and socio-economic cum demographic variables. However, measures of subjective risk perception were found more predictive of flood insurance penetration and flood risk aversion.

Technology for a Thermo-chemical Ice Penetrator for Icy Moons

Science.gov (United States)

Arenberg, Jonathan; Harpole, George; Zamel, James; Sen, Bashwar; Lee, Greg; Ross, Floyd; Retherford, Kurt D.

2016-10-01

The ability to place sensors or to take samples below the ice surface enables a wide variety of potential scientific investigations. Penetrating an ice cap can be accomplished via a mechanical drill, laser drill, kinetic impactor, or heated penetrator. This poster reports on the development of technology for the latter most option, namely a self-heated probe driven by an exothermic chemical reaction: a Thermo-chemical ice penetrator (TChIP). Our penetrator design employs a eutectic mix of alkali metals that produce an exothermic reaction upon contact with an icy surface. This reaction increases once the ice starts melting, so no external power is required. This technology is inspired by a classified Cold-War era program developed at Northrop Grumman for the US Navy. Terrestrial demonstration of this technology took place in the Arctic; however, this device cannot be considered high TRL for application at the icy moons of the solar system due to the environmental differences between Earth's Arctic and the icy moons. These differences demand a TChIP design specific to these cold, low mass, airless worlds. It is expected that this model of TChIP performance will be complex, incorporating all of the forces on the penetrator, gravity, the thermo-chemistry at the interface between penetrator and ice, and multi-phase heat and mass transport, and hydrodynamics. Our initial efforts are aimed at the development of a validated set of tools and simulations to predict the performance of the penetrator for both the environment found on these icy moons and for a terrestrial environment. The purpose of the inclusion of the terrestrial environment is to aid in model validation. Once developed and validated, our models will allow us to design penetrators for a specific scientific application on a specific body. This poster discusses the range of scientific investigations that are enabled by TChIP. We also introduce the development plan to advance TChIP to the point where it can be

Size-Resolved Penetration Through High-Efficiency Filter Media Typically Used for Aerosol Sampling

Czech Academy of Sciences Publication Activity Database

Zíková, Naděžda; Ondráček, Jakub; Ždímal, Vladimír

2015-01-01

Roč. 49, č. 4 (2015), s. 239-249 ISSN 0278-6826 R&D Projects: GA ČR(CZ) GBP503/12/G147 Institutional support: RVO:67985858 Keywords : filters * size-resolved penetration * atmospheric aerosol sampling Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 1.953, year: 2015

Initial response of a rock penetrator

International Nuclear Information System (INIS)

Longcope, D.B.; Grady, D.E.

1977-12-01

An analysis based on elastic rod theory is given for the early-time axisymmetric response of pointed penetrators. Results of measurements by laser interferometry of the back surface particle velocity of laboratory scale penetrators impacted by sandstone targets are presented. Values of the initial pressure on the penetrator tip are determined which give good agreement between the analytical and experimental results. These initial tip pressures are found to be approximated by the stress-particle velocity Hugoniot for the target material

Determining Maximum Photovoltaic Penetration in a Distribution Grid considering Grid Operation Limits

DEFF Research Database (Denmark)

Kordheili, Reza Ahmadi; Bak-Jensen, Birgitte; Pillai, Jayakrishnan Radhakrishna

2014-01-01

High penetration of photovoltaic panels in distribution grid can bring the grid to its operation limits. The main focus of the paper is to determine maximum photovoltaic penetration level in the grid. Three main criteria were investigated for determining maximum penetration level of PV panels...... for this grid: even distribution of PV panels, aggregation of panels at the beginning of each feeder, and aggregation of panels at the end of each feeder. Load modeling is done using Velander formula. Since PV generation is highest in the summer due to irradiation, a summer day was chosen to determine maximum......; maximum voltage deviation of customers, cables current limits, and transformer nominal value. Voltage deviation of different buses was investigated for different penetration levels. The proposed model was simulated on a Danish distribution grid. Three different PV location scenarios were investigated...

Evaporation Limited Radial Capillary Penetration in Porous Media.

Science.gov (United States)

Liu, Mingchao; Wu, Jian; Gan, Yixiang; Hanaor, Dorian A H; Chen, C Q

2016-09-27

The capillary penetration of fluids in thin porous layers is of fundamental interest in nature and various industrial applications. When capillary flows occur in porous media, the extent of penetration is known to increase with the square root of time following the Lucas-Washburn law. In practice, volatile liquid evaporates at the surface of porous media, which restricts penetration to a limited region. In this work, on the basis of Darcy's law and mass conservation, a general theoretical model is developed for the evaporation-limited radial capillary penetration in porous media. The presented model predicts that evaporation decreases the rate of fluid penetration and limits it to a critical radius. Furthermore, we construct a unified phase diagram that describes the limited penetration in an annular porous medium, in which the boundaries of outward and inward liquid are predicted quantitatively. It is expected that the proposed theoretical model will advance the understanding of penetration dynamics in porous media and facilitate the design of engineered porous architectures.

Synthesis and processing of composites by reactive metal penetration

Energy Technology Data Exchange (ETDEWEB)

Loehman, R.E.; Ewsuk, K.G. [Sandia National Laboratories, Albuquerque, NM (United States); Tomsia, A.P. [Pask Research and Engineering, Berkeley, CA (United States)] [and others

1995-05-01

Ceramic-metal composites are being developed because their high stiffness-to weight ratios, good fracture toughness, and variable electrical and thermal properties give them advantages over more conventional materials. However, because ceramic-metal composite components presently are more expensive than monolithic materials, improvements in processing are required to reduce manufacturing costs. Reactive metal penetration is a promising new method for making ceramic- and metal-matrix composites that has the advantage of being inherently a net-shape process. This technique, once fully developed, will provide another capability for manufacturing the advanced ceramic composites that are needed for many light-weight structural and wear applications. The lower densities of these composites lead directly to energy savings in use. Near-net-shape fabrication of composite parts should lead to additional savings because costly and energy intensive grinding and machining operations are significantly reduced, and the waste generated from such finishing operations is minimized. The goals of this research program are: (1) to identify feasible compositional systems for making composites by reactive metal penetration; (2) to understand the mechanism(s) of composite formation by reactive metal penetration; and (3) to learn how to control and optimize reactive metal penetration for economical production of composites and composite coatings.

Abdominal penetrating trauma and organ damage and its prognosis

Directory of Open Access Journals (Sweden)

Babak Abri

2016-12-01

Full Text Available Introduction: Abdominal penetrating trauma is still a serious problem in the world, due to its high prevalence in young people that impose a heavy economic burden on our country, we decided to evaluate the epidemiologic and demographic status and patient’s prognosis. Methods: This is a descriptive cross-sectional study; all patients with abdominal penetrating trauma referred to the emergency department of Imam Reza Hospital between March 2012 and March 2014 were enrolled to study. Age, sex, injured organs, mechanism of trauma and the prognosis was documented in the checklist. Data was analyzed by SPSS 15.0, and descriptive analysis was run. Results: In this study, 137 patients were enrolled; 103 patients (75.20% did not have visceral damage. In visceral injury, the spleen was most commonly injured abdominal organs (8.03%. the damage to small intestine seen in 8 patients (5.84%, kidney and liver damage seen in 6 patients (4.38% and 5 patients, respectively, and finally diaphragm and colon injury was seen in 2 patients (1.46%. Conclusion: According to a recent study, abdominal penetrating trauma mostly occurred in men. The most common cause of abdominal penetrating trauma was related to knife damage; spleen was commonly damaged organ caused by knives and other sharp objects.

Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait.

Science.gov (United States)

Vite, C H; Melniczek, J; Patterson, D; Giger, U

1999-01-01

Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

DEFF Research Database (Denmark)

Grønskov, Karen; Ek, Jakob; Sand, Annie

2009-01-01

PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients....... Two mutations in one OCA gene explained oculocutaneous albinism (OCA) in 44% of the patients. Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively. No mutations were found in TYRP1. Of the remaining 56% of patients, 29% were heterozygous...... for a mutation in either TYR or OCA2, and 27% were without mutations in any of the four genes. Exclusive expression of the mutant allele was found in four heterozygous patients. A minimum birth prevalence of 1 in 14,000 was calculated, based on register data on 218 patients. The proportion of OCA to autosomal...

NRC Information No. 88-04, Supplement 1: Inadequate qualification and documentation of fire barrier penetration seals

International Nuclear Information System (INIS)

Rossi, C.E.

1992-01-01

Since August 9, 1979, Diablo Canyon has experienced four fires in which the penetration seal material ignited and burned. On March 25, 1986, Toledo Edison reported that the silicone foam sealant in a fire barrier penetration in the main steam line room of Davis-Besse appeared to have baked and pulled away from the pipe. This penetration was filled with low-density silicone foam, which is rated for a maximum temperature of 425 F. The main steam lines normally operate near 600 F. The licensee's corrective actions were to stuff ceramic fiber (Kaowool) into the seal for increased fire resistance and to expand the existing fire watch. The silicone foam seal material in the diesel generator exhaust pipe penetrations at Diablo Canyon was used as replacement material for the combustible foam plastic-type seals, which were involved in the 1975 fire at the Browns Ferry nuclear power plant. In addition to diesel generator exhaust pipe penetrations, some main steamline penetrations may be sealed with this material. The material is apparently designed to withstand maximum ambient temperatures of 400 F. and temporary exposure to 500 F., but not long-term exposure to higher temperatures. Although the measurement at Diablo Canyon in 1982 indicated a pipe temperature of about 600 F., average pipe temperatures are probably much higher. The licensee for Diablo Canyon determined that only six penetrations (all associated with diesel generator exhaust pipes) potentially exposed the silicone foam penetration seal material to high temperatures. For these penetration openings, the licensee plans to install a penetration seal material designed to withstand long-term exposure to high temperatures

Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report.

Science.gov (United States)

Thedrez, Aurélie; Sjouke, Barbara; Passard, Maxime; Prampart-Fauvet, Simon; Guédon, Alexis; Croyal, Mikael; Dallinga-Thie, Geesje; Peter, Jorge; Blom, Dirk; Ciccarese, Milco; Cefalù, Angelo B; Pisciotta, Livia; Santos, Raul D; Averna, Maurizio; Raal, Frederick; Pintus, Paolo; Cossu, Maria; Hovingh, Kees; Lambert, Gilles

2016-08-01

Proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors lower low-density lipoprotein (LDL) cholesterol in the vast majority of patients with autosomal dominant familial hypercholesterolemia. Will PCSK9 inhibition with monoclonal antibodies, in particular alirocumab, be of therapeutic value for patients with autosomal recessive hypercholesterolemia (ARH)? Primary lymphocytes were obtained from 28 genetically characterized ARH patients and 11 controls. ARH lymphocytes treated with mevastatin were incubated with increasing doses of recombinant PCSK9 with or without saturating concentrations of alirocumab. Cell surface LDL receptor expression measured by flow cytometry and confocal microscopy was higher in ARH than in control lymphocytes. PCSK9 significantly reduced LDL receptor expression in ARH lymphocytes albeit to a lower extent than in control lymphocytes (25% versus 76%, respectively), an effect reversed by alirocumab. Fluorescent LDL cellular uptake, also measured by flow cytometry, was reduced in ARH lymphocytes compared with control lymphocytes. PCSK9 significantly lowered LDL cellular uptake in ARH lymphocytes, on average by 18%, compared with a 46% reduction observed in control lymphocytes, an effect also reversed by alirocumab. Overall, the effects of recombinant PCSK9, and hence of alirocumab, on LDL receptor expression and function were significantly less pronounced in ARH than in control cells. PCSK9 inhibition with alirocumab on top of statin treatment has the potential to lower LDL cholesterol in some autosomal recessive hypercholesterolemia patients. © 2016 American Heart Association, Inc.

Assessing the putative roles of X-autosome and X-Y interactions in hybrid male sterility of the Drosophila bipectinata species complex.

Science.gov (United States)

Mishra, Paras Kumar; Singh, Bashisth Narayan

2007-07-01

Interspecific F1 hybrid males of the Drosophila bipectinata species complex are sterile, while females are fertile, following Haldane's rule. A backcross scheme involving a single recessive visible marker on the X chromosome has been used to assess the putative roles of X-autosome and X-Y interactions in hybrid male sterility in the D. bipectinata species complex. The results suggest that X-Y interactions are playing the major role in hybrid male sterility in the crosses D. bipectinata x D. parabipectinata and D. bipectinata x D. pseudoananassae, while X-autosome interactions are largely involved in hybrid male sterility in the crosses D. malerkotliana x D. bipectinata and D. malerkotliana x D. parabipectinata. However, by using this single marker it is not possible to rule out the involvement of autosome-autosome interactions in hybrid male sterility. These findings also lend further support to the phylogenetic relationships among 4 species of the D. bipectinata complex.

The market penetration of energy-efficiency programs

Energy Technology Data Exchange (ETDEWEB)

Berry, L.

1990-04-01

The focus of this report is on one source of resource planning uncertainty: the expected market penetration of DSM (Demand Site Management) programs. Its purpose is to help refine planning assumptions and reduce uncertainty about the market penetration of utility DSM programs by: (1) investigating concepts and definitions of market penetration, (2) reviewing data that characterize patterns of variation (including ranges, averages and maximum levels) in program participation rates, (3) identifying the factors that affect participation, and (4) reviewing the structure and data requirements of models that forecast market penetration. 84 refs., 14 figs., 16 tabs.

Real-Time Penetrating Particle Analyzer (PAN)

Science.gov (United States)

Wu, X.; Ambrosi, G.; Bertucci, B.

2018-02-01

The PAN can measure penetrating particles with great precision to study energetic particles, solar activities, and the origin and propagation of cosmic rays. The real-time monitoring of penetrating particles is crucial for deep space human travel.

Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

Directory of Open Access Journals (Sweden)

Susan Sommerlad

2010-10-01

speckling. Fine mapping was then performed on 45 of these 50 dogs and a further 48 dogs (n = 93. Sequencing candidate gene Sox10 in 6 hearing ASCD, 2 unilaterally deaf ASCD and 2 bilaterally deaf ASCD did not reveal any disease-associated mutations.Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10.

Control of penetration zone GMAW

Directory of Open Access Journals (Sweden)

Віталій Петрович Iванов

2016-11-01

Full Text Available Thermal properties of the base metal, shielding medium and the nature of the electrode metal transfer to a great extent determine the penetration area formation in gas-arc welding. It is not always possible to take into account the influence of these factors on penetration front forming within the existing models. The aim of the work was to research the penetration area forming in gas-arc welding. The research of the penetration area forming in gas-arc welding of CrNi austenitic steels was made. The parameters of the regime as well as the kind of the gaseous medium influence on the formation of the penetration zone were studied. The article shows a linear proportional relationship between the electrode feed rate and the size of the base metal plate. The penetration area formation mode for welding in argon and carbon dioxide have been worked out. Diameter, feed rate and the speed of the electrode movement have been chosen as the main input parameters. Multiple regression analysis method was used to make up the modes. The relations of the third order that make it possible to take into account the electrode metal transfer and thermal properties change of the materials to be welded were used. These relationships show quite good agreement with the experimental measurements in the calculation of the fusion zone shape with consumable electrode in argon and carbon dioxide. It was determined that the shape of the melting front curve can be shown as a generalized function in which the front motion parameters depend on feed rate and the diameter of the electrode. Penetration zone growth time is determined by the welding speed and is calculated as a discrete function of the distance from the electrode with the spacing along the movement coordinate. The influence of the mode parameters on the formation of the fusion zone has been investigated and the ways to manage and stabilize the weld pool formation have been identified. The modes can be used to develop

Sonoporation enhances liposome accumulation and penetration in tumors with low EPR.

Science.gov (United States)

Theek, Benjamin; Baues, Maike; Ojha, Tarun; Möckel, Diana; Veettil, Seena Koyadan; Steitz, Julia; van Bloois, Louis; Storm, Gert; Kiessling, Fabian; Lammers, Twan

2016-06-10

The Enhanced Permeability and Retention (EPR) effect is a highly variable phenomenon. To enhance EPR-mediated passive drug targeting to tumors, several different pharmacological and physical strategies have been evaluated over the years, including e.g. TNFα-treatment, vascular normalization, hyperthermia and radiotherapy. Here, we systematically investigated the impact of sonoporation, i.e. the combination of ultrasound (US) and microbubbles (MB), on the tumor accumulation and penetration of liposomes. Two different MB formulations were employed, and their ability to enhance liposome accumulation and penetration was evaluated in two different tumor models, which are both characterized by relatively low levels of EPR (i.e. highly cellular A431 epidermoid xenografts and highly stromal BxPC-3 pancreatic carcinoma xenografts). The liposomes were labeled with two different fluorophores, enabling in vivo computed tomography/fluorescence molecular tomography (CT-FMT) and ex vivo two-photon laser scanning microscopy (TPLSM). In both models, in spite of relatively high inter- and intra-individual variability, a trend towards improved liposome accumulation and penetration was observed. In treated tumors, liposome concentrations were up to twice as high as in untreated tumors, and sonoporation enhanced the ability of liposomes to extravasate out of the blood vessels into the tumor interstitium. These findings indicate that sonoporation may be a useful strategy for improving drug targeting to tumors with low EPR. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetic polymorphisms of 20 autosomal STR loci in the Vietnamese population from Yunnan Province, Southwest China.

Science.gov (United States)

Zhang, Xiufeng; Hu, Liping; Du, Lei; Nie, Aiting; Rao, Min; Pang, Jing Bo; Nie, Shengjie

2017-05-01

The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated in 522 healthy unrelated Vietnamese from Yunnan, China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.999999999999999999999991 26 and 0.999999975, respectively. Results suggested that the 20 STR loci are highly polymorphic, which is suitable for forensic personal identification and paternity testing.

Typing of 49 autosomal SNPs by SNaPshot in the Slovenian population

DEFF Research Database (Denmark)

Drobnic, Katja; Børsting, Claus; Rockenbauer, Eszter

2010-01-01

A total of 157 unrelated individuals residing in Slovenia were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex with the SNaPshot assay. We obtained full SNP profiles in all but one individual and perfect concordance was obtained in duplicated analyses...

Development of penetrant materials from used oil

International Nuclear Information System (INIS)

Mohamad Pauzi Ismail; Azhar Azmi

2014-01-01

This paper described the results of experiment to produce penetrant for nondestructive testing using used engine oil. The used engine oil was obtained from motor vehicle. It was mixed with kerosene at several mix proportion. The penetrability of these mixing were measured and compared with the penetrant available on the market. The results of measurement were explained and discussed. (author)

Development of coring, consolidating, subterrene penetrators

International Nuclear Information System (INIS)

Murphy, H.D.; Neudecker, J.W.; Cort, G.E.; Turner, W.C.; McFarland, R.D.; Griggs, J.E.

1976-02-01

Coring penetrators offer two advantages over full face-melting penetrators, i.e., formation of larger boreholes with no increase in power and the production of glass-lined, structurally undisturbed cores which can be recovered with conventional core-retrieval systems. These cores are of significant value in geological exploratory drilling programs. The initial design details and fabrication features of a 114-mm-diam coring penetrator are discussed; significant factors for design optimization are also presented. Results of laboratory testing are reported and compared with performance predictions, and an initial field trial is described

Two methodologies for physical penetration testing using social engineering

NARCIS (Netherlands)

Dimkov, T.; van Cleeff, A.; Pieters, Wolter; Hartel, Pieter H.

2010-01-01

Penetration tests on IT systems are sometimes coupled with physical penetration tests and social engineering. In physical penetration tests where social engineering is allowed, the penetration tester directly interacts with the employees. These interactions are usually based on deception and if not

Microstructured barbs on the North American porcupine quill enable easy tissue penetration and difficult removal

OpenAIRE

Cho, Woo Kyung; Ankrum, James A.; Guo, Dagang; Chester, Shawn A.; Yang, Seung Yun; Kashyap, Anurag; Campbell, Georgina A.; Wood, Robert J.; Rijal, Ram K.; Karnik, Rohit; Langer, Robert; Karp, Jeffrey M.

2012-01-01

North American porcupines are well known for their specialized hairs, or quills that feature microscopic backward-facing deployable barbs that are used in self-defense. Herein we show that the natural quill’s geometry enables easy penetration and high tissue adhesion where the barbs specifically contribute to adhesion and unexpectedly, dramatically reduce the force required to penetrate tissue. Reduced penetration force is achieved by topography that appears to create stress concentrations al...

Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease

Directory of Open Access Journals (Sweden)

Taimur Dad

2018-05-01

Full Text Available Introduction: The high burden of cardiovascular morbidity and mortality in autosomal dominant polycystic kidney disease (ADPKD is related to development of hypertension and left ventricular hypertrophy. Blood pressure reduction has been shown to reduce left ventricular mass in ADPKD; however, moderators and predictors of response to lower blood pressure are unknown. Methods: This was a post hoc cohort analysis of HALT PKD study A, a randomized placebo controlled trial examining the effect of low blood pressure and single versus dual renin−angiotensin blockade in early ADPKD. Participants were hypertensive ADPKD patients 15 to 49 years of age with estimated glomerular filtration rate (eGFR > 60 ml/min per 1.73 m2 across 7 centers in the United States. Predictors included age, sex, baseline eGFR, systolic blood pressure, total kidney volume, serum potassium, and urine sodium, potassium, albumin, and aldosterone. Outcome was left ventricular mass index (LVMI measured using 1.5-T magnetic resonance imaging at months 0, 24, 48, and 60. Results: Reduction in LVMI was associated with higher baseline systolic blood pressure and larger kidney volume regardless of blood pressure control group assignment (P < 0.001 for both. Male sex and baseline eGFR were associated with a positive annual slope in LVMI (P < 0.001 and P = 0.07, respectively. Conclusion: Characteristics associated with higher risk of progression in ADPKD, including higher systolic blood pressure, larger kidney volume, and lower eGFR are associated with improvement in LVMI with intensive blood pressure control, whereas male sex is associated with a smaller slope of reduction in LVMI. Keywords: autosomal dominant polycystic kidney disease, hypertension, left ventricular hypertrophy, left ventricular mass index

Penetration of fast projectiles into resistant media: From macroscopic to subatomic projectiles

Science.gov (United States)

Gaite, José

2017-09-01

The penetration of a fast projectile into a resistant medium is a complex process that is suitable for simple modeling, in which basic physical principles can be profitably employed. This study connects two different domains: the fast motion of macroscopic bodies in resistant media and the interaction of charged subatomic particles with matter at high energies, which furnish the two limit cases of the problem of penetrating projectiles of different sizes. These limit cases actually have overlapping applications; for example, in space physics and technology. The intermediate or mesoscopic domain finds application in atom cluster implantation technology. Here it is shown that the penetration of fast nano-projectiles is ruled by a slightly modified Newton's inertial quadratic force, namely, F ∼v 2 - β, where β vanishes as the inverse of projectile diameter. Factors essential to penetration depth are ratio of projectile to medium density and projectile shape.

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice

Science.gov (United States)

Wilson, Robert; Geyer, Stefan H.; Reissig, Lukas; Rose, Julia; Szumska, Dorota; Hardman, Emily; Prin, Fabrice; McGuire, Christina; Ramirez-Solis, Ramiro; White, Jacqui; Galli, Antonella; Tudor, Catherine; Tuck, Elizabeth; Mazzeo, Cecilia Icoresi; Smith, James C.; Robertson, Elizabeth; Adams, David J.; Mohun, Timothy; Weninger, Wolfgang J.

2017-01-01

Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant and 114 wild type embryos from 42 lethal and subviable lines, analysed at E14.5. Results: Virtually all mutant embryos show multiple abnormal phenotypes and amongst the 42 lines these affect most organ systems. Within each mutant line, the phenotypes of individual embryos form distinct but overlapping sets. Subcutaneous edema, malformations of the heart or great vessels, abnormalities in forebrain morphology and the musculature of the eyes are all prevalent phenotypes, as is loss or abnormal size of the hypoglossal nerve. Conclusions: Overall, the most striking finding is that no matter how profound the malformation, each phenotype shows highly variable penetrance within a mutant line. These findings have challenging implications for efforts to identify human disease correlates. PMID:27996060

Horse domestication and conservation genetics of Przewalski's horse inferred from sex chromosomal and autosomal sequences.

Science.gov (United States)

Lau, Allison N; Peng, Lei; Goto, Hiroki; Chemnick, Leona; Ryder, Oliver A; Makova, Kateryna D

2009-01-01

Despite their ability to interbreed and produce fertile offspring, there is continued disagreement about the genetic relationship of the domestic horse (Equus caballus) to its endangered wild relative, Przewalski's horse (Equus przewalskii). Analyses have differed as to whether or not Przewalski's horse is placed phylogenetically as a separate sister group to domestic horses. Because Przewalski's horse and domestic horse are so closely related, genetic data can also be used to infer domestication-specific differences between the two. To investigate the genetic relationship of Przewalski's horse to the domestic horse and to address whether evolution of the domestic horse is driven by males or females, five homologous introns (a total of approximately 3 kb) were sequenced on the X and Y chromosomes in two Przewalski's horses and three breeds of domestic horses: Arabian horse, Mongolian domestic horse, and Dartmoor pony. Five autosomal introns (a total of approximately 6 kb) were sequenced for these horses as well. The sequences of sex chromosomal and autosomal introns were used to determine nucleotide diversity and the forces driving evolution in these species. As a result, X chromosomal and autosomal data do not place Przewalski's horses in a separate clade within phylogenetic trees for horses, suggesting a close relationship between domestic and Przewalski's horses. It was also found that there was a lack of nucleotide diversity on the Y chromosome and higher nucleotide diversity than expected on the X chromosome in domestic horses as compared with the Y chromosome and autosomes. This supports the hypothesis that very few male horses along with numerous female horses founded the various domestic horse breeds. Patterns of nucleotide diversity among different types of chromosomes were distinct for Przewalski's in contrast to domestic horses, supporting unique evolutionary histories of the two species.

Assessing the credibility of diverting through containment penetrations

International Nuclear Information System (INIS)

Cooley, J.N.; Swindle, D.W. Jr.

1980-01-01

A viable approach has been developed for identifying those containment penetrations in a nuclear fuel reprocessing plant which are credible diversion routes. The approach is based upon systematic engineering and design analyses and is applied to each type of penetration to determine which penetrations could be utilized to divert nuclear material from a reprocessing facility. The approach is described and the results of an application are discussed. In addition, the concept of credibility is developed and discussed. For a typical reprocessing plant design, the number of penetrations determined to be credible without process or piping modifications was approx. 16% of the penetrations originally identified

Relationship between bovine fertility and the number of spermatozoa penetrating the cervical mucus within straws.

Science.gov (United States)

Taş, Muzaffer; Bacinoglu, Suleyman; Cirit, Umüt; Ozdaş, Ozen Banu; Ak, Kemal

2007-09-01

In this study, by using a recently developed test technique, the relationship between the total spermatozoa number penetrating determined sites of bovine cervical mucus in straws and potential fertility of bulls, and other spermatological characteristics were investigated. Furthermore, we aimed to determine the effect on the test results, of two different incubation temperatures (37 and 41 degrees C) and two sperm penetration distance ranges (PDRs). Frozen semen samples of six Holstein bulls were used in the study. The bulls were divided into two fertility groups (high and low fertility) according to the "non-return rates" (NRR). For the penetration test, cervical mucus was drawn into transparent plastic straws and incubated with semen at 37 and 41 degrees C for 15 min. After the incubation, straws were frozen in liquid nitrogen vapour and stored at -20 degrees C. On the evaluation day, concentrations of spermatozoa penetrated to the PDRs, each of which was 2.5 mm, between 32.5 and 35 mm (first penetration distance range, PDR1), and 50 and 52.5 mm (second penetration distance range, PDR2) distance in the straws from the open end, were measured. When compared with the low fertility group, bulls from the high fertility group showed a higher number of spermatozoa at the determined PDRs, and a significant positive correlation was found between the total number of spermatozoa at the penetration distances and the NRR scores of the bulls.

Achieving penetration and participation in Diabetes After Pregnancy prevention interventions following gestational diabetes

DEFF Research Database (Denmark)

Dasgupta, Kaberi; Terkildsen Maindal, Helle; Kragelund Nielsen, Karoline

2018-01-01

and/or telephone contact CONCLUSIONS: Although penetration and participation reporting is sub-optimal, penetration generally is high while participation is variable. Leveraging and structuring recruitment within standard GDM care and settings appears to be important to engage women in DAP prevention...... (enrolled/invited) rates were calculated after data extraction. RESULTS: Among 2,859 records, 33 intervention studies were identified, among which 16 had sufficient information to calculate penetration or participation. Penetration proportion (n=9 studies) was between 85-100% for two-thirds of studies...... included. Participation proportion (n=16 studies) varied substantially; when recruitment occurred during pregnancy or early postpartum participation was 40% or more, especially if face-to-face contact was used within the GDM care setting, compared to under 15% in mid/late postpartum with mailed invitation...

Quasi-relativistic effects in barrier-penetration processes

International Nuclear Information System (INIS)

Anchishkin, D.V.

1991-01-01

The problem of a particle tunneling through the potential barrier is solved within quasi-relativistic Schroedinger equation. It is shown that the subbarrier relativistic effects give a significant addition to penetration coefficient when some relations between parameters of the barrier and mass of a tunneling particle are satisfied. For instance an account of these effects for penetration of low energy π + -mesons through Coulomb barrier of the 298 U nuclei would give the increasing of penetration coefficient to 30 percent as compared to the nonrelativistic one. Also we give the criteria under which the contribution of the ''under barrier relativism'' to penetration coefficient becomes essential. 3 refs.; 6 figs. (author)

An investigation of penetrant techniques for detection of machining-induced surface-breaking cracks on monolithic ceramics

Energy Technology Data Exchange (ETDEWEB)

Forster, G.A.; Ellingson, W.A.

1996-02-01

The purpose of this effort was to evaluate penetrant methods for their ability to detect surface-breaking cracks in monolithic ceramic materials with an emphasis on detection of cracks generated by machining. There are two basic penetrant types, visible and fluorescent. The visible penetrant method is usually augmented by powder developers and cracks detected can be seen in visible light. Cracks detected by fluorescent penetrant are visible only under ultraviolet light used with or without a developer. The developer is basically a powder that wicks up penetrant from a crack to make it more observable. Although fluorescent penetrants were recommended in the literature survey conducted early in this effort, visible penetrants and two non-standard techniques, a capillary gaseous diffusion method under development at the institute of Chemical Physics in Moscow, and the {open_quotes}statiflux{close_quotes} method which involves use of electrically charged particles, were also investigated. SiAlON ring specimens (1 in. diameter, 3/4 in. wide) which had been subjected to different thermal-shock cycles were used for these tests. The capillary gaseous diffusion method is based on ammonia; the detector is a specially impregnated paper much like litmus paper. As expected, visible dye penetrants offered no detection sensitivity for tight, surface-breaking cracks in ceramics. Although the non-standard statiflux method showed promise on high-crack-density specimens, it was ineffective on limited-crack-density specimens. The fluorescent penetrant method was superior for surface-breaking crack detection, but successful application of this procedure depends greatly on the skill of the user. Two presently available high-sensitivity fluorescent penetrants were then evaluated for detection of microcracks on Si{sub 3}N{sub 4} and SiC from different suppliers. Although 50X optical magnification may be sufficient for many applications, 200X magnification provides excellent delectability.

BECCS Market Launch Strategy Aiming to Help Ensure Reliable Grid Power at High Penetrations of IRE (Intermittent Renewable Electricity)

Science.gov (United States)

WIlliams, R. H.

2017-12-01

Despite its recognized importance for carbon (C)-mitigation, progress in advancing biomass energy with CO2 capture and sequestration (BECCS) has been slow. A BECCS market launch strategy based on technologies ready for commercial-scale demonstration is discussed—based on co-gasification of coal and biomass to make H2 with CCS. H2 so produced would be a key element of a H2 balancing capacity (H2-BC) strategy for ensuring reliable grid power at high IRE penetrations. High grid penetrations of IRE must be complemented by fast-ramping balancing (backup and/or storage) capacity (BC) to ensure reliable grid power. BC provided now by natural gas-fired gas turbine combined cycle and combustion turbine units would eventually have to be decarbonized to realize C-mitigation goals, via CCS or other means. Capital-intensive CCS energy systems require baseload operation to realize favourable economics, but at high IRE penetrations, BC plants must be operated at low capacity factors. A H2-BC strategy is a promising way to address this challenge. The elements of a H2-BC system are: (a) H2 production from carbonaceous feedstocks in baseload plants with CCS; (b) H2 consumption in fast-ramping BC units that operate at low capacity factors; (c) Buffer underground H2 storage to enable decoupling baseload H2 production from highly variable H2 consumption by BC units. The concept is likely to "work" because underground H2 storage is expected to be inexpensive. A H2 production analysis is presented for a negative GHG-emitting H2-BC system based on cogasification of corn stover and coal, with captured CO2 used for enhanced oil recovery. The technical readiness of each system component is discussed, and preliminary insights are offered as to the conditions under which the corresponding H2-BC system might compete with natural gas in providing backup for IRE on US electric grids. Public policy to help advance this strategy might be forthcoming, because 2 US Senate bills with broad

Thyroid Emphysema Following Penetrating Neck Trauma

Directory of Open Access Journals (Sweden)

Demet Karadağ

2011-03-01

Full Text Available Although traumatic thyroid gland rupture or hemorrhage is usually seen in goitrous glands, injuries of the normal thyroid gland after neck trauma have rarely been described in the literature. We describe a 44-year-old man who presented with thyroid emphysema and subcutaneous emphysema (SCE that occurred after penetrating neck trauma. CT images showed complete resolution of thyroid emphysema and subcutaneous emphysema at follow-up examination. Neck injuries can be life threatening. After penetrating neck traumas, physicians should consider subtle esophageal or tracheal laceration. Thyroid emphysema can occur as the result of penetrating neck trauma. The mechanism of emphysema of the thyroid parenchyma can be explained by the thyroid gland’s presence in a single visceral compartment that encompasses the larynx, trachea and thyroid gland. We describe an unusual case of thyroid emphysema of a normal thyroid gland following a penetrating neck injury.

Enabling kinetic micro-penetrator technology for Solar System research

Science.gov (United States)

Gowen, R. A.

2008-09-01

Whilst the concept of high speed impacting penetrator probes is not new, recent highly successful ground test results have considerably improved the perception that these can be a viable and useful addition to the current toolbox of planetary probes. Previous developments only led to a single deployment (Deep Space-2 to Mars on the ill fated NASA Mars Polar Lander mission in 1999) where neither the soft lander nor penetrator was ever heard from, which is not a logical basis for dismissing penetrator technology. Other space penetrator programmes have included the Russian Mars'96 ~80m/s penetrators for which the whole mission was lost before the spacecraft left Earth orbit, and the Japanese Lunar-A program which was cancelled after a lengthy development program which however saw multiple successful ground trials. The Japanese penetrators were designed for ~300m/s impact. The current UK penetrator developments are actively working towards full space qualification for a Lunar penetrators (MoonLITE mission), which would also provide a significant technical demonstration towards the development of smaller, shorter lived penetrators for exploring other solar system objects. We are advocating delivered micro-penetrators in the mass range ~4-10Kg, (preceded by ~13Kg Lunar penetrator MoonLITE development program), impacting at around 100-500m/s and carrying a scientific payload of around 2Kg. Additional mass is required to deliver the probes from `orbit' to surface which is dependent upon the particular planetary body in question. The mass per descent module therefore involves and additional element which, for a descent through an atmosphere could be quite modest, while for a flyby deployment, can be substantial. For Europa we estimate a descent module mass of ~13 Kg, while for Enceladus the value is ~40Kg for Enceladus since a deceleration of ~3.8 kms-1 is needed from a Titan orbit. The delivery system could consist of a rocket deceleration motor and attitude control system

A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

DEFF Research Database (Denmark)

Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D

2003-01-01

We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined...

An unusual case of foreign body pulmonary embolus: case report and review of penetrating trauma at a pediatric trauma center.

Science.gov (United States)

Boomer, Laura A; Watkins, Daniel J; O'Donovan, Julie; Kenney, Brian D; Yates, Andrew R; Besner, Gail E

2015-03-01

Penetrating thoracic trauma is relatively rare in the pediatric population. Embolization of foreign bodies from penetrating trauma is very uncommon. We present a case of a 6-year-old boy with a penetrating foreign body from a projectile dislodged from a lawn mower. Imaging demonstrated a foreign body that embolized to the left pulmonary artery, which was successfully treated non-operatively. We reviewed the penetrating thoracic trauma patients in the trauma registry at our institution between 1/1/03 and 12/31/12. Data collected included demographic data, procedures performed, complications and outcome. Sixty-five patients were identified with a diagnosis of penetrating thoracic trauma. Fourteen of the patients had low velocity penetrating trauma and 51 had high velocity injuries. Patients with high velocity injuries were more likely to be older and less likely to be Caucasian. There were no statistically significant differences between patients with low vs. high velocity injuries regarding severity scores or length of stay. There were no statistically significant differences in procedures required between patients with low and high velocity injuries. Penetrating thoracic trauma is rare in children. The case presented here represents the only report of cardiac foreign body embolus we could identify in a pediatric patient.

Crack growth rates in vessel head penetration materials

International Nuclear Information System (INIS)

Gomez Briceno, D.; Lapena, J.; Blazquez, F.

1994-01-01

The cracks detected in reactor vessel head penetrations in certain European plants have been attributed to Primary Water Stress Corrosion Cracking (PWSCC). The penetrations in question are made from Inconel 600. The susceptibility of this alloy to PWSCC has been widely studied in relation to use of this material for steam generator tubes. When the first reactor vessel head penetration cracks were detected, most of the available data on crack propagation rates were from test specimens made from steam generator tubes and tested under conditions that questioned the validity of these data for assessment of the evolution of cracks in penetrations. For this reason, the scope of the Spanish Research Project on the Inspection and Repair of PWR reactor vessel head penetrations included the acquisition of data on crack propagation rates in Inconel 600, representative of the materials used for vessel head penetrations. (authors). 1 fig., 2 tabs., 6 refs

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

Science.gov (United States)

Ferfouri, Fatma; Bernicot, Izabel; Schneider, Anouck; Haquet, Emmanuelle; Hédon, Bernard; Anahory, Tal

2016-04-01

To examine if a balanced female embryo with X-autosome translocation could, during its subsequent development, express an abnormal phenotype. Preimplantation genetic diagnosis (PGD) analysis on two female carriers with maternal inherited X-autosome translocations. Infertility center and genetic laboratory in a public hospital. Two female patients carriers undergoing PGD for a balanced X-autosome translocations: patient 1 with 46,X,t(X;2)(q27;p15) and patient 2 with 46,X,t(X;22)(q28;q12.3). PGD for balanced X-autosome translocations. PGD outcomes, fluorescence in situ hybridization in biopsied embryos and meiotic segregation patterns analysis of embryos providing from X-autosome translocation carriers. Controlled ovarian stimulation facilitated retrieval of a correct number of oocytes. One balanced embryo per patient was transferred and one developed, but the patient miscarried after 6 weeks of amenorrhea. In X-autosome translocation carriers, balanced Y-bearing embryos are most often phenotypically normal and viable. An ambiguous phenotype exists in balanced X-bearing embryos owing to the X inactivation mechanism. In 46,XX embryos issued from an alternate segregation, der(X) may be inactivated and partially spread transcriptional silencing into a translocated autosomal segment. Thus, the structural unbalanced genotype could be turned into a viable functional balanced one. It is relevant that a discontinuous silencing is observed with a partial and unpredictable inactivation of autosomal regions. Consequently, the resulting phenotype remains a mystery and is considered to be at risk of being an abnormal phenotype in the field of PGD. It is necessary to be cautious regarding to PGD management for this type of translocation, particularly in transferred female embryos. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Genetically enhanced asynapsis of autosomal chromatin promotes transcriptional dysregulation and meiotic failure

Czech Academy of Sciences Publication Activity Database

Homolka, David; Jansa, Petr; Forejt, Jiří

2012-01-01

Roč. 121, č. 1 (2012), s. 91-104 ISSN 0009-5915 R&D Projects: GA MŠk(CZ) LD11079 Institutional research plan: CEZ:AV0Z50520514 Keywords : meiotic silencing of unsynapsed chromatin * meiotic sex chromosome inactivation * autosomal translocation Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.340, year: 2012

Analytical review of 664 cases of penetrating buttock trauma

Science.gov (United States)

2011-01-01

A comprehensive review of data has not yet been provided as penetrating injury to the buttock is not a common condition accounting for 2-3% of all penetrating injuries. The aim of the study is to provide the as yet lacking analytical review of the literature on penetrating trauma to the buttock, with appraisal of characteristics, features, outcomes, and patterns of major injuries. Based on these results we will provide an algorithm. Using a set of terms we searched the databases Pub Med, EMBASE, Cochran, and CINAHL for articles published in English between 1970 and 2010. We analysed cumulative data from prospective and retrospective studies, and case reports. The literature search revealed 36 relevant articles containing data on 664 patients. There was no grade A evidence found. The injury population mostly consists of young males (95.4%) with a high proportion missile injury (75.9%). Bleeding was found to be the key problem which mostly occurs from internal injury and results in shock in 10%. Overall mortality is 2.9% with significant adverse impact of visceral or vascular injury and shock (P colon, or rectum injuries leading in shot wounds, whilst vascular injury leads in stab wounds (P trauma. In conclusion, penetrating buttock trauma should be regarded as a life-threatening injury with impact beyond the pelvis until proven otherwise. PMID:21995834

A genomic audit of newly-adopted autosomal STRs for forensic identification.

Science.gov (United States)

Phillips, C

2017-07-01

In preparation for the growing use of massively parallel sequencing (MPS) technology to genotype forensic STRs, a comprehensive genomic audit of 73 STRs was made in 2016 [Parson et al., Forensic Sci. Int. Genet. 22, 54-63]. The loci examined included miniSTRs that were not in widespread use, but had been incorporated into MPS kits or were under consideration for this purpose. The current study expands the genomic analysis of autosomal STRs that are not commonly used, to include the full set of developed miniSTRs and an additional 24 STRs, most of which have been recently included in several supplementary forensic multiplex kits for capillary electrophoresis. The genomic audit of these 47 newly-adopted STRs examined the linkage status of new loci on the same chromosome as established forensic STRs; analyzed world-wide population variation of the newly-adopted STRs using published data; assessed their forensic informativeness; and compiled the sequence characteristics, repeat structures and flanking regions of each STR. A further 44 autosomal STRs developed for forensic analyses but not incorporated into commercial kits, are also briefly described. Copyright © 2017 Elsevier B.V. All rights reserved.

Penetrating Osseous Spicules Causing High-Flow Ventral CSF Leaks in the Setting of Relatively Low BMI : A Preliminary Study.

Science.gov (United States)

Rosebrock, Richard E; Diehn, Felix E; Luetmer, Patrick H; Wald, John T; Lane, John I; Morris, Jonathan M; Lehman, Vance T; Carr, Carrie M; Mokri, Bahram; Thielen, Kent R

2017-05-16

We have anecdotally observed patients with high-flow ventral cerebrospinal fluid (CSF) leaks resulting from penetrating osseous spicules or calcified discs to be relatively thin. The purpose of this study was to explore the validity of this observation and determine if a potential association exists between low body mass index (BMI) and high-flow spinal ventral CSF leaks resulting from such dura-penetrating lesions. Sixteen consecutive patients with precisely localized high-flow ventral spinal CSF leaks on dynamic myelography were identified. The cause of the CSF leak was determined. The BMI on the date nearest to and within 2 weeks of myelography was recorded. Utilizing exact sign test, the body mass index was compared to the average BMI from the National Health and Nutrition Examination Survey (Centers for Disease Control), matched to sex and age-range. The cohort consisted of 10 males (63%) and 6 females with a mean age of 54 years (range 37-72 years). In all patients, a spiculated osteophyte/calcified disc was identified at the site of the leak. Fourteen patients (88%) had a BMI below the matched national average, while only two patients (13%) had values above the national average (p = 0.004). Patients with high-flow ventral CSF leaks resulting from spiculated osteophyte or calcified disc as identified by dynamic myelography are more likely to have a BMI below the U.S. national average, matched for gender and age-range. This exploratory analysis requires confirmation as well as further characterization of potential pathophysiologic mechanisms and impact on radiographic and clinical assessments.

Penetration of Photovoltaics in Greece

OpenAIRE

Eugenia Giannini; Antonia Moropoulou; Zacharias Maroulis; Glykeria Siouti

2015-01-01

Recently, an interesting experiment was completed in Greece concerning photovoltaic penetration into the electricity production sector. Based on the relevant laws and in accordance to the related European directives, an explosive penetration process was completed in less than three years, resulting in a 7% share of photovoltaics in electricity production instead of the previous negligible share. The legislation was based on licensing simplification and generous feed-in-tariffs. This approach ...

Ureteric transection secondary to penetrating handlebar injury

Directory of Open Access Journals (Sweden)

K.P. Debbink

2017-08-01

Full Text Available Ureteric trauma is rare, occurring in <1% of all traumas. We present a unique case of a 13 year old female who sustained a penetrating abdominal injury from a bicycle handlebar. Upon initial examination there was herniation of bowel through the abdominal wound, so exploratory laparotomy was performed. A serosal injury of the colon and bleeding mesenteric veins were encountered; the retroperitoneum was not explored at that time. Postoperative course was remarkable for a doubling of the serum creatinine, increasing abdominal distention and pain. Computed tomography on postoperative day five demonstrated a large amount of intra-abdominal fluid. The patient was taken for re-exploration. The left ureter was found to be completely transected. It was repaired over a double-J stent. This case demonstrates the need for a high index of suspicion in the diagnosis of ureteric injury. Keywords: Ureter, Bicycle, Handlebar, Penetrating

Recursive Monte Carlo method for deep-penetration problems

International Nuclear Information System (INIS)

Goldstein, M.; Greenspan, E.

1980-01-01

The Recursive Monte Carlo (RMC) method developed for estimating importance function distributions in deep-penetration problems is described. Unique features of the method, including the ability to infer the importance function distribution pertaining to many detectors from, essentially, a single M.C. run and the ability to use the history tape created for a representative region to calculate the importance function in identical regions, are illustrated. The RMC method is applied to the solution of two realistic deep-penetration problems - a concrete shield problem and a Tokamak major penetration problem. It is found that the RMC method can provide the importance function distributions, required for importance sampling, with accuracy that is suitable for an efficient solution of the deep-penetration problems considered. The use of the RMC method improved, by one to three orders of magnitude, the solution efficiency of the two deep-penetration problems considered: a concrete shield problem and a Tokamak major penetration problem. 8 figures, 4 tables

penetrating abdominal trauma

African Journals Online (AJOL)

gender, mechanism of injury, injury severity scores (ISS), penetrating ... ileus, reduced pulmonary function and loss of muscle mass and function, all of .... pathophysiology and rehabilitation. ... quality of life after surgery for colorectal cancer.

The Genetics of Hybrid Male Sterility Between the Allopatric Species Pair Drosophila persimilis and D. pseudoobscura bogotana: Dominant Sterility Alleles in Collinear Autosomal Regions

OpenAIRE

Chang, Audrey S.; Noor, Mohamed A. F.

2007-01-01

F1 hybrid male sterility is thought to result from interactions between loci on the X chromosome and dominant-acting loci on the autosomes. While X-linked loci that contribute to hybrid male sterility have been precisely localized in many animal taxa, their dominant autosomal interactors have been more difficult to localize precisely and/or have been shown to be of relatively smaller effect. Here, we identified and mapped at least four dominant autosomal factors contributing to hybrid male st...

Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.

Science.gov (United States)

Peddareddygari, Leema Reddy; Hanna, Philip A; Igo, Robert P; Luo, Yuqun A; Won, Sungho; Hirano, Michio; Grewal, Raji P

2016-01-01

Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. At present, 19 autosomal dominant loci for HSP have been mapped. We ascertained an American family of European descent segregating an autosomal dominant HSP associated with peripheral neuropathy. A genome wide scan was performed with 410 microsatellite repeat marker (Weber lab screening set 16) and following linkage and haplotype analysis, fine mapping was performed. Established genes or loci for HSP were excluded by direct sequencing or haplotype analysis. All established loci for HSP were excluded. Fine mapping suggested a locus on chromosome 21q22.3 flanked by markers D21S1411 and D21S1446 with a maximum logarithm of odds score of 2.05 and was supported by haplotype analysis. A number of candidate genes in this region were analyzed and no disease-producing mutations were detected. We present the clinical and genetic analysis of an American family with autosomal dominant HSP with axonal sensory motor polyneuropathy mapping to a novel locus on chromosome 21q22.3 designated SPG56.

Evidence for autosomal recessive inheritance in cerebral gigantism

Science.gov (United States)

Nevo, S.; Zeltzer, M.; Benderly, A.; Levy, J.

1974-01-01

Three cases of cerebral gigantism, two sibs and their double first cousin, are described in a large inbred family from Israel. Two of the three were observed and diagnosed at birth and two were followed for two years. They all presented the signs and symptoms considered typical of this syndrome, as well as some of the less frequent findings. Generalized oedema and flexion contractures of the feet were observed in two of the three at birth. This has not hitherto been reported in cases of cerebral gigantism, of whom only a few have been observed and diagnosed at birth. Autosomal recessive inheritance is clearly implied in this family. Images PMID:4841084

Characterization of nuclear reactor containment penetrations. Preliminary report

International Nuclear Information System (INIS)

Bump, T.R.; Seidensticker, R.W.; Shackelford, M.A.; Gambhir, V.K.; McLennan, G.L.

1984-06-01

This report summarizes the survey work conducted by Argonne National Laboratory on the design and details of major penetrations in 22 nuclear power plants. The survey includes all containment types and materials in current use. It also includes details of all types of penetrations (except for electrical penetration assemblies and valves) and the seals and gaskets used in them. The report provides a test matrix for testing major penetrations and for testing seals and gaskets in order to evaluate their leakage potential under severe accident conditions

Vessel head penetrations: French approach for maintenance in the PLIM program

International Nuclear Information System (INIS)

Champigny, F.

2002-01-01

Full text: In 1991, in the Bugey nuclear power plant, for the first time a leak occurred at the level of a vessel head penetration made with base nickel alloy (Inconel 600). This leak was caused by a primary stress corrosion cracking coming from inside the penetration tube. The crack was trough wall extent and primary fluid went out from the top of the vessel head. Immediately, Electricite de France launched important research programs and expertise in order to understand the root causes and propose solutions to this problem. The root causes confirmed PWSCC, and in the same time solutions for repair were studied and an inspection program was established to check the base metal of other vessel head penetrations. After several tests, repair solutions were abandoned because of their high costs (financial and dosimetry). EDF decided to replace all the vessel heads with Inconel 600 penetrations. Non destructive developments leaded to use eddy currents for detection and characterization but also televisual techniques to confirm. In a second step, in order to inspect without removing the inside thermal sleeve, eddy current and ultrasonic sword probes were achieved and used to inspect all vessel heads penetrations. Up to now, 75% of the vessel head have been replaced on the 900 MW and 1300 MW fleets but to replace wisely the last vessel heads EDF continues to perform NDE of the penetrations on the basis of safety criteria. This paper describes the different steps of the applied policy in France, NDE methods, criteria and the results obtained. (author)

Northern Slavs from Serbia do not show a founder effect at autosomal and Y-chromosomal STRs and retain their paternal genetic heritage.

Science.gov (United States)

Rębała, Krzysztof; Veselinović, Igor; Siváková, Daniela; Patskun, Erika; Kravchenko, Sergey; Szczerkowska, Zofia

2014-01-01

Studies on Y-chromosomal markers revealed significant genetic differentiation between Southern and Northern (Western and Eastern) Slavic populations. The northern Serbian region of Vojvodina is inhabited by Southern Slavic Serbian majority and, inter alia, Western Slavic (Slovak) and Eastern Slavic (Ruthenian) minorities. In the study, 15 autosomal STR markers were analysed in unrelated Slovaks, Ruthenians and Serbs from northern Serbia and western Slovakia. Additionally, Slovak males from Serbia were genotyped for 17 Y-chromosomal STR loci. The results were compared to data available for other Slavic populations. Genetic distances for autosomal markers revealed homogeneity between Serbs from northern Serbia and Slovaks from western Slovakia and distinctiveness of Serbian Slovaks and Ruthenians. Y-STR variation showed a clear genetic departure of the Slovaks and Ruthenians inhabiting Vojvodina from their Serbian neighbours and genetic similarity to the Northern Slavic populations of Slovakia and Ukraine. Admixture estimates revealed negligible Serbian paternal ancestry in both Northern Slavic minorities of Vojvodina, providing evidence for their genetic isolation from the Serbian majority population. No reduction of genetic diversity at autosomal and Y-chromosomal markers was found, excluding genetic drift as a reason for differences observed at autosomal STRs. Analysis of molecular variance detected significant population stratification of autosomal and Y-chromosomal microsatellites in the three Slavic populations of northern Serbia, indicating necessity for separate databases used for estimations of frequencies of autosomal and Y-chromosomal STR profiles in forensic casework. Our results demonstrate that regarding Y-STR haplotypes, Serbian Slovaks and Ruthenians fit in the Eastern European metapopulation defined in the Y chromosome haplotype reference database. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Adaptation and penetration of resin-based root canal sealers in root canals irradiated with high-intensity lasers

Science.gov (United States)

Moura-Netto, Cacio; Mello-Moura, Anna Carolina Volpi; Palo, Renato Miotto; Prokopowitsch, Igor; Pameijer, Cornelis H.; Marques, Marcia Martins

2015-03-01

This research analyzed the quality of resin-based sealer adaptation after intracanal laser irradiation. Extracted teeth (n=168) were root canal treated and divided into four groups, according to dentin surface treatment: no laser; Nd:YAG laser (1.5 W, 100 mJ, 15 Hz) diode laser (2.5 W in CW), and Er:YAG laser (1 W, 100 mJ, 10 Hz). The teeth were divided into four subgroups according to the sealer used: AH Plus, EndoREZ, Epiphany, and EpiphanySE. For testing the sealing after root canal obturation, the penetration of silver nitrate solution was measured, whereas to evaluate the adaptation and penetration of the sealer into the dentin, environmental scanning electron microscopy (ESEM) was used. The ESEM images were analyzed using a four-grade criteria score by three evaluators. The inter-examiner agreement was confirmed by Kappa test and the scores statistically compared by the Kruskal-Wallis' test (p<0.05). Both adaptation and sealer penetration in root canals were not affected by the laser irradiation. Nd:YAG and diode laser decreased the tracer penetration for AH Plus, whereas EndoREZ and EpiphanySE performances were affected by Nd:YAG irradiation (p<0.05). It can be concluded that intracanal laser irradiation can be used as an adjunct in endodontic treatment; however, the use of hydrophilic resin sealers should be avoided when root canals were irradiated with Nd:YAG laser.

Optimal Operation and Dispatch of Voltage Regulation Devices Considering High Penetrations of Distributed Photovoltaic Generation

Energy Technology Data Exchange (ETDEWEB)

Mather, Barry A [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Hodge, Brian S [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Cho, Gyu-Jung [Sungkyunkwan University; Oh, Yun-Sik [Sungkyunkwan University; Kim, Min-Sung [Sungkyunkwan University; Kim, Ji-Soo [Sungkyunkwan University; Kim, Chul-Hwan [Sungkyunkwan University

2017-06-29

Voltage regulation devices have been traditionally installed and utilized to support distribution voltages. Installations of distributed energy resources (DERs) in distribution systems are rapidly increasing, and many of these generation resources have variable and uncertain power output. These generators can significantly change the voltage profile for a feeder; therefore, in the distribution system planning stage of the optimal operation and dispatch of voltage regulation devices, possible high penetrations of DERs should be considered. In this paper, we model the IEEE 34-bus test feeder, including all essential equipment. An optimization method is adopted to determine the optimal siting and operation of the voltage regulation devices in the presence of distributed solar power generation. Finally, we verify the optimal configuration of the entire system through the optimization and simulation results.

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Directory of Open Access Journals (Sweden)

Cali E Willet

Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Science.gov (United States)

Willet, Cali E; Makara, Mariano; Reppas, George; Tsoukalas, George; Malik, Richard; Haase, Bianca; Wade, Claire M

2015-01-01

Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

Cell-penetrating antimicrobial peptides - prospectives for targeting intracellular infections

DEFF Research Database (Denmark)

Bahnsen, Jesper S; Franzyk, Henrik; Sayers, Edward J

2015-01-01

PURPOSE: To investigate the suitability of three antimicrobial peptides (AMPs) as cell-penetrating antimicrobial peptides. METHODS: Cellular uptake of three AMPs (PK-12-KKP, SA-3 and TPk) and a cell-penetrating peptide (penetratin), all 5(6)-carboxytetramethylrhodamine-labeled, were tested in He......La WT cells and analyzed by flow cytometry and confocal microscopy. Furthermore, the effects of the peptides on eukaryotic cell viability as well as their antimicrobial effect were tested. In addition, the disrupting ability of the peptides in the presence of bilayer membranes of different composition...... the cellular viability to an unacceptable degree. TPk showed acceptable uptake efficiency, high antimicrobial activity and relatively low toxicity, and it is the best potential lead peptide for further development....

Penetrating abdominal trauma.

Science.gov (United States)

Henneman, P L

1989-08-01

The management of patients with penetrating abdominal trauma is outlined in Figure 1. Patients with hemodynamic instability, evisceration, significant gastrointestinal bleeding, peritoneal signs, gunshot wounds with peritoneal violation, and type 2 and 3 shotgun wounds should undergo emergency laparotomy. The initial ED management of these patients includes airway management, monitoring of cardiac rhythm and vital signs, history, physical examination, and placement of intravenous lines. Blood should be obtained for initial hematocrit, type and cross-matching, electrolytes, and an alcohol level or drug screen as needed. Initial resuscitation should utilize crystalloid fluid replacement. If more than 2 liters of crystalloid are needed to stabilize an adult (less in a child), blood should be given. Group O Rh-negative packed red blood cells should be immediately available for a patient in impending arrest or massive hemorrhage. Type-specific blood should be available within 15 minutes. A patient with penetrating thoracic and high abdominal trauma should receive a portable chest x-ray, and a hemo- or pneumothorax should be treated with tube thoracostomy. An unstable patient with clinical signs consistent with a pneumothorax, however, should receive a tube thoracostomy prior to obtaining roentgenographic confirmation. If time permits, a nasogastric tube and Foley catheter should be placed, and the urine evaluated for blood (these procedures can be performed in the operating room). If kidney involvement is suspected because of hematuria or penetrating trauma in the area of a kidney or ureter in a patient requiring surgery, a single-shot IVP should be performed either in the ED or the operating room. An ECG is important in patients with possible cardiac involvement and in patients over the age of 40 going to the operating room. Tetanus status should be updated, and appropriate antibiotics covering bowel flora should be given. Operative management should rarely be delayed

40 CFR 1065.365 - Nonmethane cutter penetration fractions.

Science.gov (United States)

2010-07-01

... fractions. 1065.365 Section 1065.365 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED... Measurements § 1065.365 Nonmethane cutter penetration fractions. (a) Scope and frequency. If you use a FID... penetration fractions of methane, PFCH4, and ethane, PF C2H6. As detailed in this section, these penetration...

The penetration of aerosols through fine orifices

International Nuclear Information System (INIS)

Marshall, I.A.; Latham, L.J.; Ball, M.H.E.; Mitchell, J.P.

1991-07-01

A novel experimental technique has been extended to study the migration of gas-borne glass microspheres in the size range from about 1 to 15 μm volume equivalent diameter through orifices with bores and thicknesses in the range from 2 to 100 μm and 12.7 to 509 μm respectively. The penetration of these particles was significant with all orifices greater than 10 μm bore at a constant driving pressure of 100 kPa. However, few particles penetrated the 5 μm bore orifice, while virtually no particles penetrated the 2 μm bore orifice. Particle size distributions determined after penetration through the orifices were very similar to that of the upstream aerosol except when significant attenuation occurred. (author)

Temporary fire sealing of penetrations on TFTR

International Nuclear Information System (INIS)

Hondorp, H.L.

1981-02-01

The radiation shielding provided for TFTR for D-D and D-T operation will be penetrated by numerous electrical and mechanical services. Eventually, these penetrations will have to be sealed to provide the required fire resistance, tritium sealability, pressure integrity and radiation attenuation. For the initial hydrogen operation, however, fire sealing of the penetrations in the walls and floor is the primary concern. This report provides a discussion of the required and desirable properties of a temporary seal which can be used to seal these penetrations for the hydrogen operation and then subsequently be removed and replaced as required for the D-D and D-T operations. Several candidate designs are discussed and evaluated and recommendations are made for specific applications

Miniature Ground Penetrating Radar, CRUX GPR

Science.gov (United States)

Kim, Soon Sam; Carnes, Steven R.; Haldemann, Albert F.; Ulmer, Christopher T.; Ng, Eddie; Arcone, Steven A.

2006-01-01

Under NASA instrument development programs (PIDDP 2000-2002, MIPD 2003-2005, ESR and T, 2005) we have been developing miniature ground penetrating radars (GPR) for use in mapping subsurface stratigraphy from planetary rovers for Mars and lunar applications. The Mars GPR is for deeper penetration (up to 50 m depth) into the Martian subsurface at moderate resolution (0.5 m) for a geological characterization. As a part of the CRUX (Construction and Resource Utilization Explorer) instrument suite, the CRUX GPR is optimized for a lunar prospecting application. It will have shallower penetration (5 m depth) with higher resolution (10 cm) for construction operations including ISRU (in-situ resource utilization).

An Experimental Investigation on APR1400 Penetration Weld Failure by Metallic Melt

International Nuclear Information System (INIS)

An, Sang Mo; Ha, Kwang Soon; Kim, Hwan Yeol

2014-01-01

The penetrations are considered as the most vulnerable parts with respect to the reactor vessel failure when a core melt severe accident occurs and the corium reaches the lower head. Penetration tube failure modes can be divided into two categories; tube ejection out of the vessel lower head and rupture of the penetration tube outside the vessel. Tube ejection begins with degrading the penetration tube weld strength to zero as the weld is exposed to temperatures as high as the weld melting temperature, which is called weld failure, and then overcoming any binding force in the hole in the vessel wall that results from differential thermal expansion of the tube and vessel wall. Tube rupture assumes that the debris bed has melted the instrument tube inside the reactor and melt migrates down into the tube to a location outside the vessel wall where a pressure rupture can occur, thus breaching the pressure boundary. In the present paper, we have a focus on the tube ejection failure mode, specifically on the APR1400 weld failure by direct contact with a metallic melt. The objective is to investigate experimentally the ablation kinetics of an APR1400 penetration weld during the interactions with a metallic melt and to suggest the modification of the existing weld failure model. This paper involves the interaction experiments of two different metallic melts (metallic corium and stainless steel melts) with a weld specimen, and rough estimation of weld failure time. The interaction experiments between the metallic melts and an APR1400 penetration weld were performed to investigate the ablation kinetics of the penetration weld. Metallic corium and stainless steel melts were generated using an induction heating technique and interacted with a penetration weld specimen. The ablation rate of the weld specimen showed a range from 0.109 to 0..244 mm/s and thus the APR1400 penetration weld was estimated to be failed at hundreds of times after the interaction with the melt

Building virtual pentesting labs for advanced penetration testing

CERN Document Server

Cardwell, Kevin

2014-01-01

Written in an easy-to-follow approach using hands-on examples, this book helps you create virtual environments for advanced penetration testing, enabling you to build a multi-layered architecture to include firewalls, IDS/IPS, web application firewalls, and endpoint protection, which is essential in the penetration testing world. If you are a penetration tester, security consultant, security test engineer, or analyst who wants to practice and perfect penetration testing skills by building virtual pen testing labs in varying industry scenarios, this is the book for you. This book is ideal if yo

Antibacterial Effects of a Cell-Penetrating Peptide Isolated from Kefir.

Science.gov (United States)

Miao, Jianyin; Guo, Haoxian; Chen, Feilong; Zhao, Lichao; He, Liping; Ou, Yangwen; Huang, Manman; Zhang, Yi; Guo, Baoyan; Cao, Yong; Huang, Qingrong

2016-04-27

Kefir is a traditional fermented milk beverage used throughout the world for centuries. A cell-penetrating peptide, F3, was isolated from kefir by Sephadex G-50 gel filtration, DEAE-52 ion exchange, and reverse-phase high-performance liquid chromatography. F3 was determined to be a low molecular weight peptide containing one leucine and one tyrosine with two phosphate radicals. This peptide displayed antimicrobial activity across a broad spectrum of organisms including several Gram-positive and Gram-negative bacteria as well as fungi, with minimal inhibitory concentration (MIC) values ranging from 125 to 500 μg/mL. Cellular penetration and accumulation of F3 were determined by confocal laser scanning microscopy. The peptide was able to penetrate the cellular membrane of Escherichia coli and Staphylococcus aureus. Changes in cell morphology were observed by scanning electron microscopy (SEM). The results indicate that peptide F3 may be a good candidate for use as an effective biological preservative in agriculture and the food industry.

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Science.gov (United States)

Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E; Giglio, Sabrina R; Sani, Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella

2017-02-01

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed. Sociedad Argentina de Pediatría.

Particle size for greatest penetration of HEPA filters - and their true efficiency

International Nuclear Information System (INIS)

da Roza, R.A.

1982-01-01

The particle size that most greatly penetrates a filter is a function of filter media construction, aerosol density, and air velocity. In this paper the published results of several experiments are compared with a modern filtration theory that predicts single-fiber efficiency and the particle size of maximum penetration. For high-efficiency particulate air (HEPA) filters used under design conditions this size is calculated to be 0.21 μm diam. This is in good agreement with the experimental data. The penetration at 0.21 μm is calculated to be seven times greater than at the 0.3 μm used for testing HEPA filters. Several mechanisms by which filters may have a lower efficiency in use than when tested are discussed

Potential for containment leak paths through electrical penetration assemblies under severe accident conditions

International Nuclear Information System (INIS)

Sebrell, W.

1983-07-01

The leakage behavior of containments beyond design conditions and knowledge of failure modes is required for evaluation of mitigation strategies for severe accidents, risk studies, emergency preparedness planning, and siting. These studies are directed towards assessing the risk and consequences of severe accidents. An accident sequence analysis conducted on a Boiling Water Reactor (BWR), Mark I (MK I), indicated very high temperatures in the dry-well region, which is the location of the majority of electrical penetration assemblies. Because of the high temperatures, it was postulated in the ORNL study that the sealants would fail and all the electrical penetration assemblies would leak before structural failure would occur. Since other containments had similar electrical penetration assemblies, it was concluded that all containments would experience the same type of failure. The results of this study, however, show that this conclusion does not hold for PWRs because in the worst accident sequence, the long time containment gases stabilize to 350 0 F. BWRs, on the other hand, do experience high dry-well temperatures and have a higher potential for leakage

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Science.gov (United States)

Chassine, Thomas; Bocquet, Béatrice; Daien, Vincent; Avila-Fernandez, Almudena; Ayuso, Carmen; Collin, Rob Wj; Corton, Marta; Hejtmancik, J Fielding; van den Born, L Ingeborgh; Klevering, B Jeroen; Riazuddin, S Amer; Sendon, Nathacha; Lacroux, Annie; Meunier, Isabelle; Hamel, Christian P

2015-10-01

To determine the refractive error in patients with autosomal recessive retinitis pigmentosa (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP. Twenty-six individuals had arRP with RP1 mutations, 25 had autosomal dominant RP (adRP) with RP1 mutation, 8 and 33 had X-linked RP (xlRP) with RP2 and RPGR mutations, respectively, 198 and 93 had Usher syndrome and arRP without RP1 mutations, respectively. The median of the spherical equivalent (SE) and the IQR (Q25-Q75) was determined and multiple comparisons were performed. arRP patients with RP1 mutations had SE median at -4.0 dioptres (D) OD (Ocula Dextra); -3.88 D OS (Ocula Sinistra), whereas arRP patients without RP1 mutations (-0.50 D OD; -0.75 D OS) and Usher syndrome patients (-0.50 D OD; -0.38 D OS) were significantly less myopic (pUsher syndrome and adRP with RP1 mutation had a narrow IQR (-9.06 to -1.13 D), whereas arRP with RP1 mutations and xlRP with RP2 or RPGR mutations had a larger range (-9.06; -1.13 D). arRP patients with RP1 mutations have myopia not different from patients with xlRP with RP2 or RPGR mutations, while RP patients from other genetic subgroups were emmetropic or mildly myopic. We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 mutations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Science.gov (United States)

Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G

2018-02-22

PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.

Chronic Disease Prevalence and Medicare Advantage Market Penetration

Science.gov (United States)

Bernell, Stephanie Lazarus; Casim, Faizan M.; Wilmott, Jennifer; Pearson, Lindsey; Byler, Caitlin M.; Zhang, Zidong

2015-01-01

By March 2015, 30% of all Medicare beneficiaries were enrolled in Medicare Advantage (MA) plans. Research to date has not explored the impacts of MA market penetration on individual or population health outcomes. The primary objective of this study is to examine the relationships between MA market penetration and the beneficiary’s portfolio of cardiometabolic diagnoses. This study uses 2004 to 2008 Medical Expenditure Panel Survey (MEPS) Household Component data to construct an aggregate index that captures multiple diagnoses in one outcome measure (Chronic Disease Severity Index [CDSI]). The MEPS data for 8089 Medicare beneficiaries are merged with MA market penetration data from Centers for Medicare and Medicaid Services (CMS). Ordinary least squares regressions are run with SAS 9.3 to model the effects of MA market penetration on CDSI. The results suggest that each percentage increase in MA market penetration is associated with a greater than 2-point decline in CDSI (lower burden of cardiometabolic chronic disease). Spill-over effects may be driving improvements in the cardiometabolic health of beneficiary populations in counties with elevated levels of MA market penetration. PMID:28462266

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

DEFF Research Database (Denmark)

Almind, Gitte J; Grønskov, Karen; Milea, Dan

2011-01-01

Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported...

Penetration shielding applications of CYLSEC

International Nuclear Information System (INIS)

Dexheimer, D.T.; Hathaway, J.M.

1985-01-01

Evaluation of penetration and discontinuity shielding is necessary to meet 10CFR20 regulations for ensuring personnel exposures are as low as reasonably achievable (ALARA). Historically, those shielding evaluations have been done to some degree on all projects. However, many early plants used conservative methods due to lack of an economical computer code, resulting in costly penetration shielding programs. With the increased industry interest in cost effectively reducing personnel exposures to meet ALARA regulations and with the development of the CYLSEC gamma transport computer code at Bechtel, a comprehensive effort was initiated to reduce penetration and discontinuity shielding but still provide a prudent degree of protection for plant personnel from radiation streaming. This effort was more comprehensive than previous programs due to advances in shielding analysis technology and increased interest in controlling project costs while maintaining personnel exposures ALARA. Methodology and resulting cost savings are discussed

Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy.

Science.gov (United States)

Kelly, K J; Zhang, Jizhong; Han, Ling; Kamocka, Malgorzata; Miller, Caroline; Gattone, Vincent H; Dominguez, Jesus H

2015-01-01

Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model. Donor cell engraftment and both mutant and wild type Pkhd1 were found in treated but not control PCK kidneys 15 weeks after the final cell infusion. To examine the mechanisms of global protection with a small number of transplanted cells, we tested the hypothesis that exosomes derived from normal Sprague Dawley cells can limit the cystic phenotype of PCK recipient cells. We found that renal exosomes originating from normal Sprague Dawley cells carried and transferred wild type Pkhd1 mRNA to PCK cells in vivo and in vitro and restricted cyst formation by cultured PCK cells. The results indicate that transplantation with renal cells containing wild type Pkhd1 improves renal structure and function in autosomal recessive polycystic kidney disease and may provide an intra-renal supply of normal Pkhd1 mRNA.

Theory of activated penetrant diffusion in viscous fluids and colloidal suspensions

International Nuclear Information System (INIS)

Zhang, Rui; Schweizer, Kenneth S.

2015-01-01

We heuristically formulate a microscopic, force level, self-consistent nonlinear Langevin equation theory for activated barrier hopping and non-hydrodynamic diffusion of a hard sphere penetrant in very dense hard sphere fluid matrices. Penetrant dynamics is controlled by a rich competition between force relaxation due to penetrant self-motion and collective matrix structural (alpha) relaxation. In the absence of penetrant-matrix attraction, three activated dynamical regimes are predicted as a function of penetrant-matrix size ratio which are physically distinguished by penetrant jump distance and the nature of matrix motion required to facilitate its hopping. The penetrant diffusion constant decreases the fastest with size ratio for relatively small penetrants where the matrix effectively acts as a vibrating amorphous solid. Increasing penetrant-matrix attraction strength reduces penetrant diffusivity due to physical bonding. For size ratios approaching unity, a distinct dynamical regime emerges associated with strong slaving of penetrant hopping to matrix structural relaxation. A crossover regime at intermediate penetrant-matrix size ratio connects the two limiting behaviors for hard penetrants, but essentially disappears if there are strong attractions with the matrix. Activated penetrant diffusivity decreases strongly with matrix volume fraction in a manner that intensifies as the size ratio increases. We propose and implement a quasi-universal approach for activated diffusion of a rigid atomic/molecular penetrant in a supercooled liquid based on a mapping between the hard sphere system and thermal liquids. Calculations for specific systems agree reasonably well with experiments over a wide range of temperature, covering more than 10 orders of magnitude of variation of the penetrant diffusion constant

Market penetration of intersection AEB: Characterizing avoided and residual straight crossing path accidents.

Science.gov (United States)

Sander, Ulrich; Lubbe, Nils

2018-06-01

reduces only marginally at low penetration rates but this reduction increases with higher penetration rates. With 100 percent market penetration, one quarter of the vehicles still involved in straight crossing path accidents will sustain a delta-V higher than 17 km/h. Intersection AEB is very effective. Enabling a fast initial implementation of systems with wide field-of-view sensor(s) and ensuring a high market penetration over the longer term is essential to achieve high crash avoidance and injury mitigation rates over time. The standards for in-crash protection must be high to mitigate injury in the unavoidable, residual accidents. Copyright © 2018 Elsevier Ltd. All rights reserved.

Stability analysis of transmission system with high penetration of distributed generation

Energy Technology Data Exchange (ETDEWEB)

Reza, M.

2006-12-21

Nowadays, interest in generating electricity using decentralized generators of relatively small scale ('distributed generation', DG) is increasing. This work deals with the impact of implementing DG on the transmission system transient stability, with the emphasis on a potential transition from a 'vertical power system' to a 'horizontal power system. A problem in power systems is maintaining synchronous operation of all (centralized) synchronous machines. This stability problem associated is called rotor angle stability. In this work, the impact of the DG implementation on this is investigated. The impact of DG levels on the system transient stability when the increasing DG level is followed by a reduction of centralized generators in service resulting in a 'vertical to horizontal' transformation of the power system is also investigated. Furthermore, a stochastic analysis is used to study the transient stability of the power systems. The results show that including the stochastic behavior of DG leads to a more complete and detailed view of the system performance. Finally, the situation when the power system is pushed towards a scenario, where DG penetration reaches a level that covers the total load of the original power system (100% DG level) is investigated. The research performed in this work indicates that from the transmission system stability point of view, if higher DG penetration levels are coming up, sufficient inertia and voltage support must be installed. Furthermore, one should be aware of the fact that the system behaves stochastically, especially with DG. To a certain extent regional balancing of power can be performed by local voltage control.

Hacking and penetration testing with low power devices

CERN Document Server

Polstra, Philip

2014-01-01

Hacking and Penetration Testing with Low Power Devices shows you how to perform penetration tests using small, low-powered devices that are easily hidden and may be battery-powered. It shows how to use an army of devices, costing less than you might spend on a laptop, from distances of a mile or more. Hacking and Penetration Testing with Low Power Devices shows how to use devices running a version of The Deck, a full-featured penetration testing and forensics Linux distribution, and can run for days or weeks on batteries due to their low power consumption. Author Philip Polstra shows how to

Penetrators for delivering Scientific equipment to minor bodies by flying-pass missions.

Science.gov (United States)

Bagrov, Alexander; Martynov, Maxim; Pichkhadze, Konstantin M.; Dolgopolov, Vladimir; Sysoev, Valentin

Many space missions are planned to have close encounters with Solar system minor bodies as a pass-fly. Short time of such close encounters were effectively used for photographing of these bodies, i.e. for distant investigations only because of large velocities of the encounter. We propose to use high-velocity penetrators to provide contact investigations of the minor bodies in situ. These devices were designed by Lavochkin Association for lunar missions. They were designed for long lived scientific equipment to be placed under surface up to depth 2...3 m. Penetrators could survive under 500 g shock, so the contact velocity was from 90 to 250 m/s, so each of them had booster engine to decelerate orbital velocity. As flying-pass velocity near minor body can be more then 10 km/s, penetrators would hit target at speed above 1 km/s and successfully bear 1500 g. To do so we propose to fulfill whole internal space inside penetrator with distilled water and froze it to temperature - 80°C or lower. At this temperature water ice is as hard as steel, so penetrator will plunge into target like armour-piercing shell. After landing protective ice will be evaporated (particularly due to heating from collision) and all sensitive mechanics will be set free.

Operation of Power Grids with High Penetration of Wind Power

Science.gov (United States)

Al-Awami, Ali Taleb

The integration of wind power into the power grid poses many challenges due to its highly uncertain nature. This dissertation involves two main components related to the operation of power grids with high penetration of wind energy: wind-thermal stochastic dispatch and wind-thermal coordinated bidding in short-term electricity markets. In the first part, a stochastic dispatch (SD) algorithm is proposed that takes into account the stochastic nature of the wind power output. The uncertainty associated with wind power output given the forecast is characterized using conditional probability density functions (CPDF). Several functions are examined to characterize wind uncertainty including Beta, Weibull, Extreme Value, Generalized Extreme Value, and Mixed Gaussian distributions. The unique characteristics of the Mixed Gaussian distribution are then utilized to facilitate the speed of convergence of the SD algorithm. A case study is carried out to evaluate the effectiveness of the proposed algorithm. Then, the SD algorithm is extended to simultaneously optimize the system operating costs and emissions. A modified multi-objective particle swarm optimization algorithm is suggested to identify the Pareto-optimal solutions defined by the two conflicting objectives. A sensitivity analysis is carried out to study the effect of changing load level and imbalance cost factors on the Pareto front. In the second part of this dissertation, coordinated trading of wind and thermal energy is proposed to mitigate risks due to those uncertainties. The problem of wind-thermal coordinated trading is formulated as a mixed-integer stochastic linear program. The objective is to obtain the optimal tradeoff bidding strategy that maximizes the total expected profits while controlling trading risks. For risk control, a weighted term of the conditional value at risk (CVaR) is included in the objective function. The CVaR aims to maximize the expected profits of the least profitable scenarios, thus

The Influence of Salt Water on Chloride Penetration in Geopolymer Concrete

Directory of Open Access Journals (Sweden)

Halim Like Novia

2017-01-01

Full Text Available This paper presents the influence of chloride ion penetration in geopolymer concrete. Fly ash as based material for geopolymer concrete was used in this mixture. Fly ash was mixed with sodium hydroxide (NaOH 8 M and sodium silicate (Na2SiO3 as the alkali solution. The sizes of cylindrical specimens were prepared with a diameter of 100 mm and 200 mm high. Some specimens were immersed in salt water at a concentration of 3.5%, and other control specimens were cured in tap water for 30, 60, 90, and 120 days. The mechanical properties were determined with compressive test which was conducted at 28, 30, 60, 90 and 120 days. Some durability tests were performed for porosity, chloride penetration, and pH measurement. It was found that geopolymer concrete has higher compressive strength than concrete made with Ordinary Portland cement (OPC. However, chloride penetration in geopolymer concrete is higher than OPC. The pH measurement showed that geopolymer concrete has less pH than OPC concrete. The porosity of concrete has been found to influence chloride penetration and pH of concrete.

Measurement of skin permeation/penetration of nanoparticles for their safety evaluation.

Science.gov (United States)

Kimura, Eriko; Kawano, Yuichiro; Todo, Hiroaki; Ikarashi, Yoshiaki; Sugibayashi, Kenji

2012-01-01

The aim of the present study was to quantitatively evaluate the skin permeation/penetration of nanomaterials and to consider their penetration pathway through skin. Firstly, penetration/permeation of a model fluorescent nanoparticle, Fluoresbrite®, was determined through intact rat skin and several damaged skins. Fluoresbrite® permeated through only needle-punctured skin. The permeation profiles of soluble high molecular compounds, fluorescein isothiocyanate-dextrans (FITC-dextrans, FDs), with different molecular weights were also measured for comparison. The effects of molecular sizes and different skin pretreatments on the skin barrier were determined on the skin penetration/permeation of Fluoresbrite® and FDs. Fluoresbrite® was not permeated the intact skin, but FDs were permeated the skin. The skin distribution of titanium dioxide and zinc oxide nanoparticles was also observed after topical application of commercial cosmetics. Nanoparticles in sunscreen cosmetics were easily distributed into the groove and hair follicles after their topical application, but seldom migrated from the groove or follicles to viable epidermis and dermis. The obtained results suggested that nanoparticles did not permeate intact skin, but permeated pore-created skin. No or little permeation was observed for these nanomaterials through the stratum corneum.

Materials properties of hafnium and zirconium silicates: Metal interdiffusion and dopant penetration studies

Science.gov (United States)

Quevedo Lopez, Manuel Angel

Hafnium and Zirconium based gate dielectrics are considered potential candidates to replace SiO2 or SiON as the gate dielectric in CMOS processing. Furthermore, the addition of nitrogen into this pseudo-binary alloy has been shown to improve their thermal stability, electrical properties, and reduce dopant penetration. Because CMOS processing requires high temperature anneals (up to 1050°C), it is important to understand the diffusion properties of any metal associated with the gate dielectric in silicon at these temperatures. In addition, dopant penetration from the doped polysilicon gate into the Si channel at these temperatures must also be studied. Impurity outdiffusion (Hf, Zr) from the dielectric, or dopant (B, As, P) penetration through the dielectric into the channel region would likely result in deleterious effects upon the carrier mobility. In this dissertation extensive thermal stability studies of alternate gate dielectric candidates ZrSixOy and HfSixO y are presented. Dopant penetration studies from doped-polysilicon through HfSixOy and HfSixOyNz are also presented. Rutherford Backscattering Spectroscopy (RBS), Heavy Ion RBS (HI-RBS), X-ray Photoelectron Spectroscopy (XPS), High Resolution Transmission Electron Microscopy (HR-TEM), and Time of Flight and Dynamic Secondary Ion Mass Spectroscopy (ToF-SIMS, D-SIMS) methods were used to characterize these materials. The dopant diffusivity is calculated by modeling of the dopant profiles in the Si substrate. In this disseration is reported that Hf silicate films are more stable than Zr silicate films, from the metal interdiffusion point of view. On the other hand, dopant (B, As, and P) penetration is observed for HfSixO y films. However, the addition of nitrogen to the Hf - Si - O systems improves the dopant penetration properties of the resulting HfSi xOyNz films.

XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus).

Science.gov (United States)

Forejt, J; Gregorová, S; Goetz, P

1981-01-01

Analysis of the chromosome behaviour at pachytene has been performed by means of the silver staining technique visualizing the synaptonemal complexes (SCs) in male mice heterozygous for the male-sterile translocations T(5;12)31Hm T(16;17)43H and T(7;19)145H, respectively. the T(9;17)138Ca male heterozygotes and T43H/T43H homozygous males were used as fertile controls. The sterile mice displayed a high frequency (about 60%) of pachytene spermatocytes with autosomal translocation configuration located in close vicinity of the XY pair. The dense round body (XAB), normally located near the X-chromosome axis in fertile males, exhibited abnormal affinity to translocation configuration in the sterile translocation heterozygotes. The incomplete synapsis of autosomes involved in translocation configuration was observed in more than 70% of the pachytene spermatocytes with the male-sterile translocations but less than 20% of the cells from T138Ca fertile male.s. A hypothesis relating the spermatogenic arrest of carriers of male-sterile rearrangements to the presumed interference with X chromosome inactivation in male meiosis is discussed.

Quantifying snow and vegetation interactions in the high arctic based on ground penetrating radar (GPR)

DEFF Research Database (Denmark)

Gacitúa, G.; Bay, C.; Tamstorf, M.

2013-01-01

Arctic in Northeast Greenland. We used ground penetrating radar (GPR) for snow thickness measurements across the Zackenberg valley. Measurements were integrated to the physical conditions that support the vegetation distribution. Descriptive statistics and correlations of the distribution of each...

Skin Penetration Enhancement by Natural Oils for Dihydroquercetin Delivery.

Science.gov (United States)

Čižinauskas, Vytis; Elie, Nicolas; Brunelle, Alain; Briedis, Vitalis

2017-09-12

Natural oils are commonly used in topical pharmaceutical formulations as emulsifiers, stabilizers or solubility enhancers. They are presented as safe and inert components, mainly used for formulation purposes. It is confirmed that natural oils can affect the skin penetration of various substances. Fatty acids are mainly responsible for this effect. Current understanding lacks reliable scientific data on penetration of natural oils into the skin and their skin penetration enhancement potential. In the current study, fatty acid content analysis was used to determine the principal fatty acids in soybean, olive, avocado, sea-buckthorn pulp, raspberry seed and coconut oils. Time of flight secondary ion mass spectrometry bioimaging was used to determine the distribution of these fatty acids in human skin ex vivo after application of the oils. Skin penetration enhancement ratios were determined for a perspective antioxidant compound dihydroquercetin. The results demonstrated skin penetration of fatty acids from all oils tested. Only soybean and olive oils significantly increased the skin distribution of dihydroquercetin and can be used as skin penetration enhancers. However, no correlation can be determined between the fatty acids' composition and skin penetration enhancement using currently available methodological approaches. This indicates that potential chemical penetration enhancement should be evaluated during formulation of topically applied products containing natural oils.

Study for the water penetration chemistry of bentonite under temperature gradation environment

International Nuclear Information System (INIS)

Hara, Naohiro; Imakita, Tsuyoshi

2003-02-01

This work have been studied for the water fluctuation in time and space in case of the ground water penetration into the unsaturated bentonite with development of the necessary test equipment. The test equipment necessary for this test, was designed on consideration of the adiabatic condition, sensors for pH, salt and water measurement. The thickness of the bentonite specimen was set to 10 cm and the temperature slope was enable to set between 80degC and 100degC at the both end of the specimen. The water for penetration was pushed by gas constant pressure up to 1 MPa. The glass electrode for pH, electric conductivity for salinity and moisture sensor for lower water content and water sensor for higher were used as the sensors. The fluctuation of salt and water in the ground water penetration test to bentonite was estimated. The sensor data were treated as parametric data, because those data could not calibrated in those high temperature and under those high bentonite swollen pressure. For another development should be needed for water sensor. (author)

Penetration Testing Professional Ethics: a conceptual model and taxonomy

Directory of Open Access Journals (Sweden)

Justin Pierce

2006-05-01

Full Text Available In an environment where commercial software is continually patched to correct security flaws, penetration testing can provide organisations with a realistic assessment of their security posture. Penetration testing uses the same principles as criminal hackers to penetrate corporate networks and thereby verify the presence of software vulnerabilities. Network administrators can use the results of a penetration test to correct flaws and improve overall security. The use of hacking techniques, however, raises several ethical questions that centre on the integrity of the tester to maintain professional distance and uphold the profession. This paper discusses the ethics of penetration testing and presents our conceptual model and revised taxonomy.

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

NARCIS (Netherlands)

Schule, R.; Bonin, M.; Durr, A.; Forlani, S.; Sperfeld, A.D.; Klimpe, S.; Mueller, J.C.; Seibel, A.; Warrenburg, B.P.C. van de; Bauer, P.; Schols, L.

2009-01-01

OBJECTIVE: Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP

A Flexure-Guided Piezo Drill for Penetrating the Zona Pellucida of Mammalian Oocytes.

Science.gov (United States)

Johnson, Wesley; Dai, Changsheng; Liu, Jun; Wang, Xian; Luu, Devin K; Zhang, Zhuoran; Ru, Changhai; Zhou, Chao; Tan, Min; Pu, Huayan; Xie, Shaorong; Peng, Yan; Luo, Jun; Sun, Yu

2018-03-01

Mammalian oocytes such as mouse oocytes have a highly elastic outer membrane, zona pellucida (ZP) that cannot be penetrated without significantly deforming the oocyte, even with a sharp micropipette. Piezo drill devices leverage lateral and axial vibration of the micropipette to accomplish ZP penetration with greatly reduced oocyte deformation. However, existing piezo drills all rely on a large lateral micropipette vibration amplitude ( 20 ) and a small axial vibration amplitude (0.1 ). The very large lateral vibration amplitude has been deemed to be necessary for ZP penetration although it also induces larger oocyte deformation and more oocyte damage. This paper reports on a new piezo drill device that uses a flexure guidance mechanism and a systematically designed pulse train with an appropriate base frequency. Both simulation and experimental results demonstrate that a small lateral vibration amplitude (e.g., 2 ) and an axial vibration amplitude as large as 1.2 were achieved. Besides achieving 100% effectiveness in the penetration of mouse oocytes (n = 45), the new piezo device during ZP penetration induced a small oocyte deformation of 3.4 versus larger than 10 using existing piezo drill devices.

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

OpenAIRE

Smith, S.; Kelley, P.; Kenyon, J.; Hoover, D.

2000-01-01

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascer...

Electricity markets evolution with the changing generation mix: An empirical analysis based on China 2050 High Renewable Energy Penetration Roadmap

International Nuclear Information System (INIS)

Zou, Peng; Chen, Qixin; Yu, Yang; Xia, Qing; Kang, Chongqing

2017-01-01

Highlights: • How electricity markets are evolving with the changing generation mix is studied. • China 2050 High Renewable Energy Penetration Roadmap are empirically analysed. • A multi-period Nash-Cournot model is established to study the market equilibrium. • Energy storages are analysed and compared to reveal their impacts on the equilibrium. - Abstract: The power generation mix are significantly changing due to the growth of stricter energy policies. The renewables are increasingly penetrating the power systems and leading to more clean energy and lower energy prices. However, they also require much more flexibilities and ancillary services to handle their uncertainties and variabilities. Thus, the requirements for regulation and reserve services may dramatically increase while the supplies of these services, which are mainly from the traditional thermal plants, remain almost invariant. This changing situation will cause higher regulation and reserve prices and impact the profit models and revenue structures of the traditional plants. How electricity markets are actually evolving with the changing generation mix? Can enough backup power plants be given adequate economic incentives and thus remained with the increasing renewables and the decreasing energy prices and productions? Can de-carbonization be fully performed in power systems? To explicitly answer the question, this paper uses a multi-period Nash-Cournot equilibrium model to formulate the evolution of power markets incorporating different types of generators, including thermal units, hydro units, wind farms, solar stations and energy storage systems. The price changes in the co-optimized energy, regulation and reserve markets, and the profit changes of various generators are studied. And the variabilities and uncertainties of renewable generation sources are considered in dynamically determining the requirements of regulation and reserve services. Based on the China 2050 High Renewable Energy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male

DEFF Research Database (Denmark)

Granild-Jensen, Jakob Bie; Jensen, Uffe Birk; Schwartz, Marianne

2009-01-01

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19. The condition manifests itself clinically typically in the third to fifth decade with migraine and recurrent episodes of stroke or trans......Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19. The condition manifests itself clinically typically in the third to fifth decade with migraine and recurrent episodes of stroke...... or transient ischaemic attacks. We report the case of an 11-year-old male with CADASIL resulting in stroke with right hemiparesis and dysphasia. Acute magnetic resonance imaging suggested infarction in the left hemisphere; magnetic resonance angiography revealed calibre variation of the intracerebral arteries...... of CADASIL, with an autosomal dominant pattern. The diagnosis of CADASIL was confirmed by the finding of the known mutation of the Notch3 gene running in the family. With treatment in a neurorehabilitation centre the patient recovered most of his functions with only discrete fine-motor and cognitive sequelae...

Stochastic dynamics of penetrable rods in one dimension: occupied volume and spatial order.

Science.gov (United States)

Craven, Galen T; Popov, Alexander V; Hernandez, Rigoberto

2013-06-28

The occupied volume of a penetrable hard rod (HR) system in one dimension is probed through the use of molecular dynamics simulations. In these dynamical simulations, collisions between penetrable rods are governed by a stochastic penetration algorithm (SPA), which allows for rods to either interpenetrate with a probability δ, or collide elastically otherwise. The limiting values of this parameter, δ = 0 and δ = 1, correspond to the HR and the ideal limits, respectively. At intermediate values, 0 exclusive and independent events is observed, making prediction of the occupied volume nontrivial. At high hard core volume fractions φ0, the occupied volume expression derived by Rikvold and Stell [J. Chem. Phys. 82, 1014 (1985)] for permeable systems does not accurately predict the occupied volume measured from the SPA simulations. Multi-body effects contribute significantly to the pair correlation function g2(r) and the simplification by Rikvold and Stell that g2(r) = δ in the penetrative region is observed to be inaccurate for the SPA model. We find that an integral over the penetrative region of g2(r) is the principal quantity that describes the particle overlap ratios corresponding to the observed penetration probabilities. Analytic formulas are developed to predict the occupied volume of mixed systems and agreement is observed between these theoretical predictions and the results measured from simulation.

Surgical management of penetrating pelvic trauma: a case report and literature review

Directory of Open Access Journals (Sweden)

ZHANG Peng

2012-12-01

Full Text Available 【Abstract】 High-velocity penetrating pelvic injury is one of the most difficult challenges to trauma surgeons. The injury sites frequently include soft tissue, pelvis, geni-tourinary tract, vascular structures and intraabdominal viscera. We present an unusual case of a male patient suf-fering a collision at night with a deformed steel bar penetrat-ing into his right groin. Careful planning of the surgical approach is important before extracting the foreign body. The possibility of multiorgan damage to intrapelvic struc-tures such as colon, urinary bladder, vessels and nerves, frequently necessitates a multidisciplinary involvement and systematic approach. Besides, limited incision as well as modification should be considered, and debridement and perioperative antibiotics can be used to reduce the risk of serious wound infection. Key words: Pelvis; Debridement; Wounds, penetrating

Chronic Disease Prevalence and Medicare Advantage Market Penetration

Directory of Open Access Journals (Sweden)

Steven W. Howard

2015-10-01

Full Text Available By March 2015, 30% of all Medicare beneficiaries were enrolled in Medicare Advantage (MA plans. Research to date has not explored the impacts of MA market penetration on individual or population health outcomes. The primary objective of this study is to examine the relationships between MA market penetration and the beneficiary’s portfolio of cardiometabolic diagnoses. This study uses 2004 to 2008 Medical Expenditure Panel Survey (MEPS Household Component data to construct an aggregate index that captures multiple diagnoses in one outcome measure (Chronic Disease Severity Index [CDSI]. The MEPS data for 8089 Medicare beneficiaries are merged with MA market penetration data from Centers for Medicare and Medicaid Services (CMS. Ordinary least squares regressions are run with SAS 9.3 to model the effects of MA market penetration on CDSI. The results suggest that each percentage increase in MA market penetration is associated with a greater than 2-point decline in CDSI (lower burden of cardiometabolic chronic disease. Spill-over effects may be driving improvements in the cardiometabolic health of beneficiary populations in counties with elevated levels of MA market penetration.

Radon penetration of concrete slab cracks, joints, pipe penetrations, and sealants

NARCIS (Netherlands)

Nielson, KK; Rogers, VC; Holt, RB; Pugh, TD; Grondzik, WA; deMeijer, RJ

1997-01-01

Radon movement through 12 test slabs with different cracks, pipe penetrations, cold joints, masonry blocks, sealants, and tensile stresses characterized the importance of these anomalous structural domains, Diffusive and advective radon transport were measured with steady-state air pressure

Sphere impact and penetration into wet sand

KAUST Repository

Marston, J. O.

2012-08-07

We present experimental results for the penetration of a solid sphere when released onto wet sand. We show, by measuring the final penetration depth, that the cohesion induced by the water can result in either a deeper or shallower penetration for a given release height compared to dry granular material. Thus the presence of water can either lubricate or stiffen the granular material. By assuming the shear rate is proportional to the impact velocity and using the depth-averaged stopping force in calculating the shear stress, we derive effective viscosities for the wet granular materials.

Sphere impact and penetration into wet sand

KAUST Repository

Marston, J. O.; Vakarelski, Ivan Uriev; Thoroddsen, Sigurdur T

2012-01-01

We present experimental results for the penetration of a solid sphere when released onto wet sand. We show, by measuring the final penetration depth, that the cohesion induced by the water can result in either a deeper or shallower penetration for a given release height compared to dry granular material. Thus the presence of water can either lubricate or stiffen the granular material. By assuming the shear rate is proportional to the impact velocity and using the depth-averaged stopping force in calculating the shear stress, we derive effective viscosities for the wet granular materials.

Penetrating eye injury in war.

Science.gov (United States)

Biehl, J W; Valdez, J; Hemady, R K; Steidl, S M; Bourke, D L

1999-11-01

The percentage of penetrating eye injuries in war has increased significantly in this century compared with the total number of combat injuries. With the increasing use of fragmentation weapons and possibly laser weapons on the battle-field in the future, the rate of eye injuries may exceed the 13% of the total military injuries found in Operations Desert Storm/Shield. During the Iran-Iraq War (1980-1988), eye injuries revealed that retained foreign bodies and posterior segment injuries have an improved prognosis in future military ophthalmic surgery as a result of modern diagnostic and treatment modalities. Compared with the increasing penetrating eye injuries on the battlefield, advances in ophthalmic surgery are insignificant. Eye armor, such as visors that flip up and down and protect the eyes from laser injury, needs to be developed. Similar eye protection is being developed in civilian sportswear. Penetrating eye injury in the civilian sector is becoming much closer to the military model and is now comparable for several reasons.

Parametric analysis of neutron streaming through major penetrations in the 0.914 m TFTR test cell floor

International Nuclear Information System (INIS)

Ku, L.P.; Liew, S.L.; Kolibal, J.G.

1985-09-01

Neutron streaming through penetrations in the 0.914 m TFTR test cell floor has two distinct features: (1) the oblique angle of incidence; and (2) the high order of anisotropy in the angular distribution for incident neutrons with energies > 10 keV. The effects of these features on the neutron streaming into the TFTR basement were studied parametrically for isolated penetrations. Variations with respect to the source energies, angular distributions, and sizes of the penetrations were made. The results form a data base from which the spatial distribution of the neutron flux in the basement due to multiple penetrations may be evaluated

The impact of high penetration of wind energy on the vulnerability of power systems

Energy Technology Data Exchange (ETDEWEB)

EL-Arroudi, K.; Joos, G.; McGillis, D. [McGill Univ., Montreal, PQ (Canada). Dept. of Electrical and Computer Engineering

2006-07-01

This paper examined the impact of higher penetrations of wind energy installations on the vulnerability of power systems. Vulnerability was defined in terms of migration of system states based on the contingencies that might occur. It was noted that both the penetration levels and physical locations of wind energy installations in power systems have a strong influence on system vulnerability. A methodology was proposed to analyze the impacts of wind energy on power system vulnerability through the construction of a decision-tree classification model at the point of common coupling (PCC) bus. The aim of the model was to determine planning criteria for wind power interconnection and to ensure that design concepts are adequate and secure. The model was built by simulating a pre-specified range of system contingencies to generate patterns at the PCC bus. Actual measurements were then compared against known patterns, from which the stress levels of disturbances were estimated. Stress levels were defined in terms of the performance level measures delineated by National Electricity Reliability Council (NERC) planning standards. The methodology is a non-parametric learning technique able to produce classifiers about given problems in order to deduce information from new, unobserved cases. A case study consisting of a 4-machine system with a total generation of 2295 MW was presented where wind-based generation accounted for 450 MW. The decision-tree classifier was constructed by simulating 120 events generated by combinations of contingencies; seasonal wind patterns and different wind production levels per season. Results showed that with a knowledge of the total penetration level and location of wind power installations, it is possible to estimate the effect of wind energy on the vulnerability of a power system. 12 refs., 6 figs.

Cracks on instrumentation penetrations in reactor vessel: a new challenge; Fissuration des penetrations de cuve: un nouveau defi

Energy Technology Data Exchange (ETDEWEB)

Anon

2004-02-01

In august 2003 NRC (nuclear regulatory commission) issued a warning concerning the deposits of boron acid that might accumulate on instrumental penetrations in the bottom of PWR vessels. These deposits were first detected on the David-Besse power plant and more recently on the unit 1 of South Texas Project (STP) during a refueling shutdown. STP contracted with the Areva company in order to perform inspections on all the 58 vessel penetrations of the unit 1 and to propose solutions. For that purpose the Areva company had to design a specific visual inspection tool that combined both ultra-sound method and Foucault current probing. The results of the inspection campaign on the unit 1 showed that only 2 penetration tubes were concerned with axial defects in their walls, that no circumferential defects were detected and that butt welds presented no cracks. The 2 incriminated penetration tubes were repaired: a section of both was replaced by an alloy-690 tube. (A.C.)

Effects of egg shell quality and washing on Salmonella Infantis penetration.

Science.gov (United States)

Samiullah; Chousalkar, K K; Roberts, J R; Sexton, M; May, D; Kiermeier, A

2013-07-15

The vast majority of eggs in Australia are washed prior to packing to remove dirt and fecal material and to reduce the microbial contamination of the egg shell. The egg contents can be an ideal growth medium for microorganisms which can result in human illness if eggs are stored improperly and eaten raw or undercooked, and it is estimated that egg-related salmonellosis is costing Australia $44 million per year. Egg shell characteristics such as shell thickness, amount of cuticle present, and thickness of individual egg shell layers can affect the ease with which bacteria can penetrate the egg shell and washing could partially or completely remove the cuticle layer. The current study was conducted to investigate the effects of egg washing on cuticle cover and effects of egg shell quality and cuticle cover on Salmonella Infantis penetration of the egg shell. A higher incidence of unfavorable ultrastructural variables of the mammillary layer such as late fusion, type B bodies, type A bodies, poor cap quality, alignment, depression, erosion and cubics were recorded in Salmonella penetrated areas of egg shells. The influence of egg washing on the ability of Salmonella Infantis on the egg shell surface to enter the egg internal contents was also investigated using culture-based agar egg penetration and real-time qPCR based experiments. The results from the current study indicate that washing affected cuticle cover. There were no significant differences in Salmonella Infantis penetration of washed or unwashed eggs. Egg shell translucency may have effects on Salmonella Infantis penetration of the egg shell. The qPCR assay was more sensitive for detection of Salmonella Infantis from egg shell wash and internal contents than traditional microbiological methods. The agar egg and whole egg inoculation experiments indicated that Salmonella Infantis penetrated the egg shells. Egg washing not only can be highly effective at removing Salmonella Infantis from the egg shell surface

Real-time measurement of electron beam weld penetration in uranium by acoustic emission monitoring

International Nuclear Information System (INIS)

Whittaker, J.W.; Murphy, J.L.

1991-07-01

High quality electron beam (EB) welds are required in uranium test articles. Acoustic emission (AE) techniques are under development with the goal of measuring weld penetration in real-time. One technique, based on Average Signal Level (ASL) measurement was used to record weld AE signatures. Characteristic AE signatures were recorded for bead-on-plate (BOP) and butt joint (BJ) welds made under varied welding conditions. AE waveforms were sampled to determine what microscopic AE behavior led to the observed macroscopic signature features. Deformation twinning and weld expulsion are two of the main sources of emission. AE behavior was correlated with weld penetration as measured by standard metallographic techniques. The ASL value was found to increase approximately linearly with weld penetration in BJ welds. These results form the basis for a real-time monitoring technique for weld penetration. 5 refs

Penetration Testing dan Analisis Kemanan Web Paud Dikmas

OpenAIRE

Giffari, Abizar

2018-01-01

Sebuah instansi atau perusahaan tentunya mempunyai data penting yang tersimpan dalam sebuah sistem database yang kuat dan aman untuk menghindari ancaman pencurian data dari pihak luar. Untuk mengukur sejauh mana tingkat keamanan yang dibuat, diperlukan sebuah metode pengetesan yang disebut Penetration Testing. Penetration Testing memungkinkan kita untuk dapat menentukan sejauh mana tingkat keamanan sistem yang di test. Penetration Testing juga memungkinkan kita menyerang sistem layaknya attac...

Quantitative penetration testing with item response theory

NARCIS (Netherlands)

Pieters, W.; Arnold, F.; Stoelinga, M.I.A.

2013-01-01

Existing penetration testing approaches assess the vulnerability of a system by determining whether certain attack paths are possible in practice. Therefore, penetration testing has thus far been used as a qualitative research method. To enable quantitative approaches to security risk management,

Analytical review of 664 cases of penetrating buttock trauma

Directory of Open Access Journals (Sweden)

Schulte Klaus-Martin

2011-10-01

Full Text Available Abstract A comprehensive review of data has not yet been provided as penetrating injury to the buttock is not a common condition accounting for 2-3% of all penetrating injuries. The aim of the study is to provide the as yet lacking analytical review of the literature on penetrating trauma to the buttock, with appraisal of characteristics, features, outcomes, and patterns of major injuries. Based on these results we will provide an algorithm. Using a set of terms we searched the databases Pub Med, EMBASE, Cochran, and CINAHL for articles published in English between 1970 and 2010. We analysed cumulative data from prospective and retrospective studies, and case reports. The literature search revealed 36 relevant articles containing data on 664 patients. There was no grade A evidence found. The injury population mostly consists of young males (95.4% with a high proportion missile injury (75.9%. Bleeding was found to be the key problem which mostly occurs from internal injury and results in shock in 10%. Overall mortality is 2.9% with significant adverse impact of visceral or vascular injury and shock (P P

Ehlers-Danlos syndrome

Directory of Open Access Journals (Sweden)

Farhana Tahseen Taj

2014-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4 th century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature.

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Science.gov (United States)

Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas

2013-03-07

Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

Science.gov (United States)

Okamoto, Nana; Kohmoto, Tomohiro; Naruto, Takuya; Masuda, Kiyoshi; Komori, Takahide; Imoto, Issei

2017-01-01

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

Directory of Open Access Journals (Sweden)

Ting Chen

2016-01-01

Conclusions: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Lipid shell-enveloped polymeric nanoparticles with high integrity of lipid shells improve mucus penetration and interaction with cystic fibrosis-related bacterial biofilms

DEFF Research Database (Denmark)

Wan, Feng; Nylander, Tommy; Klodzinska, Sylvia Natalie

2018-01-01

, we describe facile methods to prepare Lipid@NPs with high integrity of lipid shells and demonstrate the potential of Lipid@NPs in effective mucus penetration and interaction with cystic fibrosis-related bacterial biofilms. Lipid shell-enveloped polystyrene NPs with high integrity of lipid shells (c...... mediated layer-by layer approach. Our results suggest that the integrity of the lipid envelopes is crucial for enabling the diffusion of Lipid@PSNPs into the mucus layer and promoting the interaction of Lipid@PSNPs with a bacterial biofilm....

A study of the penetration of projectiles into marine sediments

International Nuclear Information System (INIS)

Boisson, J.Y.

1985-01-01

The work described in this document consists of three main parts: - Application, after having reviewed calculation methods and known codes, of a dynamic plasticity model based on the upper bound-method (with dissipated energy calculations by plastic deformations). The soil model used for this calculation is the Cambridge Clay Model. - Carrying out a programme of tests with instrumented small scale penetrators in centrifuge on a consolidated clay-target. The trials are done under 50 g, with projectiles, fired with an airgun at high impact velocity (50 m/s). The penetrators' instrumentation consists of either measuring acceleration, or tip force with strain gauges. - The mounting of a small instrumented penetrator for shallow water depth experimentations, with an accelerometer, and a local cell for tip resistance. A rapid electronic data acquisition system has been developed for these experimentations. The preliminary tests are done in a large tank filled with clay. The geotechnical characteristics of the clay are perfectly controlled. The tests performed under these conditions have shown the following observations: the rapid electronic data acquisition system works perfectly and could be used as a basic component for a deep water instrumentated penetrator; the results, obtained in these particular test conditions, are in a perfect agreement with the predictions of the model developed in the frame of this contract

Penetration pattern of rhodamine dyes into enamel and dentin: confocal laser microscopy observation.

Science.gov (United States)

Kwon, S R; Wertz, P W; Li, Y; Chan, D C N

2012-02-01

Enamel and dentin are susceptible to extrinsic and intrinsic stains. The purposes of this study were to determine the penetration pattern of Rhodamine B and dextran-conjugated Rhodamine B into the enamel and dentin as observed by confocal laser microscopy and to relate it to the penetration pattern of hydrogen peroxide commonly used as an active ingredient in tooth-whitening agents and high-molecular-weight staining molecules. Eighteen recently extracted human maxillary anterior teeth were used. Teeth were cleaned and painted with nail varnish except for the crown area above the cemento-enamel junction (CEJ). The painted teeth were then immersed in Rhodamine B and dextran-conjugated Rhodamine B (70 000 MW) for 4, 7, 10 and 15 days. Teeth were sliced to 3 mm thickness in transverse plane and mounted on a glass slide just prior to observation with confocal laser microscopy. Rhodamine B and dextran-conjugated Rhodamine B readily penetrated into the enamel and dentin when exposed for 4 and 7 days, respectively. Rhodamine B penetrated along the interprismatic spaces of the enamel into the dentin. The penetration was accentuated in sections with existing crack lines in the enamel. Rhodamine B was readily absorbed into the dentinal tubules at the dentino-enamel junction and continued to penetrate through the dentin via the dentinal tubules into the pre-dentin. Within the limitations of this study, it is concluded that Rhodamine B and dextran-conjugated Rhodamine B when applied to the external surface of the tooth readily penetrate into the enamel and dentin via the interprismatic spaces in the enamel and dentinal tubules in the dentin, suggesting that stain molecules and bleaching agents possibly exhibit similar penetration pathways. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

Quantitative Penetration Testing with Item Response Theory

NARCIS (Netherlands)

Arnold, Florian; Pieters, Wolter; Stoelinga, Mariëlle Ida Antoinette

2014-01-01

Existing penetration testing approaches assess the vulnerability of a system by determining whether certain attack paths are possible in practice. Thus, penetration testing has so far been used as a qualitative research method. To enable quantitative approaches to security risk management, including

Quantitative penetration testing with item response theory

NARCIS (Netherlands)

Arnold, Florian; Pieters, Wolter; Stoelinga, Mariëlle

2013-01-01

Existing penetration testing approaches assess the vulnerability of a system by determining whether certain attack paths are possible in practice. Thus, penetration testing has so far been used as a qualitative research method. To enable quantitative approaches to security risk management, including

Chemical Penetration Enhancers for Transdermal Drug Delivery ...

African Journals Online (AJOL)

for transdermal administration. The permeation of drug through skin can be enhanced by both chemical penetration enhancement and physical methods. In this review, we have discussed the chemical penetration enhancement technology for transdermal drug delivery as well as the probable mechanisms of action.

Eddy current testing with high penetration; WS-Pruefungen mit grosser Eindringtiefe

Energy Technology Data Exchange (ETDEWEB)

Becker, R.; Kroening, M. [Fraunhofer Inst. fuer Zerstoerungsfreie Pruefverfahren, Saarbruecken (Germany)

1999-08-01

The low-frequency eddy current testing method is used when penetration into very deep layers is required. The achievable penetration depth is determined among other parameters by the lowest testing frequency that can be realised together with the eddy current sensor. When using inductive sensors, the measuring effect declines proportional to the lowering frequency (induction effect). Further reduction of testing frequency requires other types of sensors, as e.g. the GMR (Giant Magnetic Resistance), which achieves a constant measuring sensitivity down to the steady field. The multi-frequency eddy current testing method MFEC 3 of IZFP described here can be operated using three different scanning frequencies at a time. Two variants of eddy current probes are used in this case. Both have an inductive winding at their emitters, of the type of a measuring probe. The receiver end is either also an inductive winding, or a magnetic field-responsive resistance (GMR). (orig./CB) [Deutsch] Das Niederfrequenz(NF)-Wirbelstrom(WS)-Verfahren wird eingesetzt, um eine grosse Eindringtiefe zu erzielen. Die erreichbare Tiefenreichweite wird u.a. durch die niedrigste Prueffrequenz bestimmt, die zusammen mit dem Wirbelstrom-Sensor realisiert werden kann. Bei Einsatz von induktiven Sensoren geht mit abnehmender Prueffrequenz der Messeffekt proportional zurueck (Induktionswirkung). Eine weitere Absenkung der Prueffrequenzen macht den Einsatz von andersartigen Sensoren notwendig, z.B. den GMR (Giant Magnetic Resistance), der eine gleichmaessige Messempfindlichkeit bis zum Gleichfeld besitzt. Das eingesetzte Mehrfrequenz-Wirbelstrom-Pruefverfahren MFEC 3 des IZFP arbeitet mit drei gleichzeitig eingespeisten Prueffrequenzen. Dabei werden zwei Varianten von WS-Sensoren eingesetzt. Beide besitzen auf der Senderseite eine induktive Wicklung in der Art einer Tastsonde. Die Empfaengerseite ist entweder ebenfalls eine induktive Wicklung oder ein magnetfeldempfindlicher Widerstand (GMR). (orig./DGE)

Campbell penetration depth in Fe-based superconductors

International Nuclear Information System (INIS)

Prommapan, Plegchart

2011-01-01

A 'true' critical current density, j c , as opposite to commonly measured relaxed persistent (Bean) current, j B , was extracted from the Campbell penetration depth, λ c (T,H) measured in single crystals of LiFeAs, and optimally electron-doped Ba(Fe 0.954 Ni 0.046 ) 2 As 2 (FeNi122). In LiFeAs, the effective pinning potential is nonparabolic, which follows from the magnetic field - dependent Labusch parameter α. At the equilibrium (upon field - cooling), α(H) is non-monotonic, but it is monotonic at a finite gradient of the vortex density. This behavior leads to a faster magnetic relaxation at the lower fields and provides a natural dynamic explanation for the fishtail (second peak) effect. We also find the evidence for strong pinning at the lower fields.The inferred field dependence of the pinning potential is consistent with the evolution from strong pinning, through collective pinning, and eventually to a disordered vortex lattice. The value of j c (2 K) ≅ 1.22 x 10 6 A/cm 2 provide an upper estimate of the current carrying capability of LiFeAs. Overall, vortex behavior of almost isotropic, fully-gapped LiFeAs is very similar to highly anisotropic d-wave cuprate superconductors, the similarity that requires further studies in order to understand unconventional superconductivity in cuprates and pnictides. In addition to LiFeAs, we also report the magnetic penetration depth in BaFe 2 As 2 based superconductors including irradiation of FeNi122. In unirradiated FeNi122, the maximum critical current value is, j c (2K) ≅ 3.3 x 10 6 A/cm 2 . The magnetic-dependent feature was observed near the transition temperature in FeTe 0.53 Se 0.47 and irradiated FeNi122. Because of this feature, further studies are required in order to properly calibrate the Campbell penetration depth. Finally, we detected the crossing between the magnetic penetration depth and London penetration depth in optimally hold-doped Ba 0.6 K 0.4 Fe 2 As 2 (BaK122) and isovalent doped BaFe 2 (As 0

Analysis of Carbon Policies for Electricity Networks with High Penetration of Green Generation

Science.gov (United States)

Feijoo, Felipe A.

In recent decades, climate change has become one of the most crucial challenges for humanity. Climate change has a direct correlation with global warming, caused mainly by the green house gas emissions (GHG). The Environmental Protection Agency in the U.S. (EPA) attributes carbon dioxide to account for approximately 82% of the GHG emissions. Unfortunately, the energy sector is the main producer of carbon dioxide, with China and the U.S. as the highest emitters. Therefore, there is a strong (positive) correlation between energy production, global warming, and climate change. Stringent carbon emissions reduction targets have been established in order to reduce the impacts of GHG. Achieving these emissions reduction goals will require implementation of policies like as cap-and-trade and carbon taxes, together with transformation of the electricity grid into a smarter system with high green energy penetration. However, the consideration of policies solely in view of carbon emissions reduction may adversely impact other market outcomes such as electricity prices and consumption. In this dissertation, a two-layer mathematical-statistical framework is presented, that serves to develop carbon policies to reduce emissions level while minimizing the negative impacts on other market outcomes. The bottom layer of the two layer model comprises a bi-level optimization problem. The top layer comprises a statistical model and a Pareto analysis. Two related but different problems are studied under this methodology. The first problem looks into the design of cap-and-trade policies for deregulated electricity markets that satisfy the interest of different market constituents. Via the second problem, it is demonstrated how the framework can be used to obtain levels of carbon emissions reduction while minimizing the negative impact on electricity demand and maximizing green penetration from microgrids. In the aforementioned studies, forecasts for electricity prices and production cost

Vehicle effects on human stratum corneum absorption and skin penetration.

Science.gov (United States)

Zhang, Alissa; Jung, Eui-Chang; Zhu, Hanjiang; Zou, Ying; Hui, Xiaoying; Maibach, Howard

2017-05-01

This study evaluated the effects of three vehicles-ethanol (EtOH), isopropyl alcohol (IPA), and isopropyl myristate (IPM)-on stratum corneum (SC) absorption and diffusion of the [ 14 C]-model compounds benzoic acid and butenafine hydrochloride to better understand the transport pathways of chemicals passing through and resident in SC. Following application of topical formulations to human dermatomed skin for 30 min, penetration flux was observed for 24 h post dosing, using an in vitro flow-through skin diffusion system. Skin absorption and penetration was compared to the chemical-SC (intact, delipidized, or SC lipid film) binding levels. A significant vehicle effect was observed for chemical skin penetration and SC absorption. IPA resulted in the greatest levels of intact SC/SC lipid absorption, skin penetration, and total skin absorption/penetration of benzoic acid, followed by IPM and EtOH, respectively. For intact SC absorption and total skin absorption/penetration of butenafine, the vehicle that demonstrated the highest level of sorption/penetration was EtOH, followed by IPA and IPM, respectively. The percent doses of butenafine that were absorbed in SC lipid film and penetrated through skin in 24 h were greatest for IPA, followed by EtOH and IPM, respectively. The vehicle effect was consistent between intact SC absorption and total chemical skin absorption and penetration, as well as SC lipid absorption and chemical penetration through skin, suggesting intercellular transport as a main pathway of skin penetration for model chemicals. These results suggest the potential to predict vehicle effects on skin permeability with simple SC absorption assays. As decontamination was applied 30 min after chemical exposure, significant vehicle effects on chemical SC partitioning and percutaneous penetration also suggest that skin decontamination efficiency is vehicle dependent, and an effective decontamination method should act on chemical solutes in the lipid domain.

Inhibitory action of chlorophyllin of autosome recessive lethals induced by irradiation

International Nuclear Information System (INIS)

Salceda, V.M.; Pimentel, P.A.E.; Cruces, M.P.

2006-01-01

The chlorophyllin is a sodium salt of the chlorophyll that has a strong protective action of the damage induced by different agents so much physical as chemical. In Drosophila there is reported this effect in somatic cells. In contrast, in germinal cells using tests with the sexual chromosomes has not been found such inhibitory action. For this reason, in this occasion we will refer to the effect of the lethality induced in autosome chromosomes, in particular to the chromosome II of this species. For such effect groups of males of the line Canton-S its were pre-treated for 24h with or without 69 mm of CCS and later on treaties with or without 40 Gy of gamma irradiation. The males were then subjected to the technical Cy L / Pm for the detection of recessive lethals. In the third generation the respective counts of the descendant of each one of them to determine the corresponding categories for each extracted chromosome were made. To be mendelian crosses it is expected for a normal chromosome a proportion 2:1 of individuals with genotype Cy L / +: +/+. The absence of individuals +/+ it is indicative of a lethal gene, until 10% of these individuals of each male's total descendant, it is considered that is carrying of a semi lethal gene. The sum of lethal and semi lethals constitutes the category detrimental. The obtained results indicated that the pre-treatment with CCS reduces in a significant way the frequency of induced lethals by 40 Gy of gamma rays. The fact that an effect inhibitor has not been observed in the test of recessive lethal bound to the sex obtained previously, it contrasts with the effect observed in the chromosome II, results of this study and with the one observed in the chromosome III in somatic cells. The above-mentioned shows a differential action of the CCS between sexual chromosomes and autosomal before the effect of the gamma radiation. At the moment we don't have an explanation to these evidences. To evaluate the action of the chlorophyllin

Stylet penetration of Cacopsylla pyri; an electrical penetration graph (EPG) study

NARCIS (Netherlands)

Civolani, S.; Leis, M.; Grandi, G.; Garzo, E.; Pasqualini, E.; Musacchi, S.; Chicca, M.; Castaldelli, G.; Rossie, M.; Tjallingii, W.F.

2011-01-01

Detailed information on plant penetration activities by pear psylla Cacopsylla pyri L. (Hemiptera Psyllidae) is essential to study phytoplasma transmission of “Candidatus Phytoplasma pyri” responsible of pear decline disease (PD) and to trace and evaluate resistant traits in new pear tree selections

Premium Efficiency Motors And Market Penetration Policy

Energy Technology Data Exchange (ETDEWEB)

Benhaddadi, Mohamed; Olivier, Guy

2010-09-15

This paper illustrates the induced enormous energy saving potential, permitted by using high-efficiency motors. Furthermore, the most important barriers to larger high-efficiency motors utilization are identified, and some incentives recommendations are given to overcome identified impediments. The authors consider that there is a strong case to enhance incentives policies for larger market penetration. The US Energy Policy Act and the Canadian Energy Efficient Act have lead to North American leadership on motor efficiency implementation. North America is not on the leading edge for energy saving and conservation. Motor efficiency is an exception that should be at least maintained.

Capacity Payments in Restructured Markets under Low and High Penetration Levels of Renewable Energy

Energy Technology Data Exchange (ETDEWEB)

Jenkin, Thomas [National Renewable Energy Lab. (NREL), Golden, CO (United States); Beiter, Philipp [National Renewable Energy Lab. (NREL), Golden, CO (United States); Margolis, Robert [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2016-02-11

There is considerable debate about the degree to which restructured markets perform successfully in their use of capacity markets. In providing appropriate incentives for new and existing generation to meet reliability requirements, a variety of capacity market designs have developed across RTOs and ISOs in the United States and internationally. Growing levels of variable renewable energy (VRE) resources arguably create new challenges for capacity market designs, because VREs suppress energy prices while providing relatively little capacity, with these effects increase with VRE penetration. The purpose of this report is threefold. First, we provide a brief outline of the purpose and design of various capacity markets under consideration using variable resource requirement (VRR) demand curves. Second, we discuss some of the main challenges raised in existing literature and a set of interviews that we conducted with market participants, regulators, and observers, including where there substantive differences in opinion. Third, we consider some of the challenges that may be specific to higher penetration levels of VRE. While the well known 'merit order' effect from VRE can be expected to suppress wholesale energy prices and revenue, this may be partly mitigated by increased capacity payments and the greater importance of AS payments for flexible capacity. The potential for greater reliance on capacity markets for generator revenues may amplify any inefficiency and costs associated with capacity price volatility and other suboptimal market design choices. Regulatory intervention to ensure adequate capacity payments and ancillary service revenue may become more prevalent under current market designs as the timescale for market signals shifts increasingly from near term (e.g., day-ahead in wholesale electricity markets) to longer term (annual intervals in capacity markets). Our review and discussion with market participants suggest substantive challenges may

Prophylactic antibiotics for penetrating abdominal trauma.

Science.gov (United States)

Brand, Martin; Grieve, Andrew

2013-11-18

Penetrating abdominal trauma occurs when the peritoneal cavity is breached. Routine laparotomy for penetrating abdominal injuries began in the 1800s, with antibiotics first being used in World War II to combat septic complications associated with these injuries. This practice was marked with a reduction in sepsis-related mortality and morbidity. Whether prophylactic antibiotics are required in the prevention of infective complications following penetrating abdominal trauma is controversial, however, as no randomised placebo controlled trials have been published to date. There has also been debate about the timing of antibiotic prophylaxis. In 1972 Fullen noted a 7% to 11% post-surgical infection rate with pre-operative antibiotics, a 33% to 57% infection rate with intra-operative antibiotic administration and 30% to 70% infection rate with only post-operative antibiotic administration. Current guidelines state there is sufficient class I evidence to support the use of a single pre-operative broad spectrum antibiotic dose, with aerobic and anaerobic cover, and continuation (up to 24 hours) only in the event of a hollow viscus perforation found at exploratory laparotomy. To assess the benefits and harms of prophylactic antibiotics administered for penetrating abdominal injuries for the reduction of the incidence of septic complications, such as septicaemia, intra-abdominal abscesses and wound infections. Searches were not restricted by date, language or publication status. We searched the following electronic databases: the Cochrane Injuries Group Specialised Register, CENTRAL (The Cochrane Library 2013, issue 12 of 12), MEDLINE (OvidSP), Embase (OvidSP), ISI Web of Science: Science Citation Index Expanded (SCI-EXPANDED), ISI Web of Science: Conference Proceedings Citation Index- Science (CPCI-S) and PubMed. Searches were last conducted in January 2013. All randomised controlled trials of antibiotic prophylaxis in patients with penetrating abdominal trauma versus no

Deformation analysis of shallow penetration in clay

Science.gov (United States)

Sagaseta, C.; Whittle, A. J.; Santagata, M.

1997-10-01

A new method of analysis is described for estimating the deformations and strains caused by shallow undrained penetration of piles and caissons in clay. The formulation combines previous analyses for steady, deep penetration, with methods used to compute soil deformations due to near-surface ground loss, and is referred to as the Shallow Strain Path Method (SSPM). Complete analytical solutions for the velocity and strain rates are given for a planar wall, an axisymmetric, closed-ended pile and unplugged, open-ended pile geometries. In these examples, the analyses consider a single source penetrating through the soil at a constant rate, generating a family of penetrometers with rounded tips, referred to as simple wall, pile and tube geometries. Soil deformations and strains are obtained by integrating the velocity and strain rates along the particle paths.The transition from shallow to deep penetration is analysed in detail. Shallow penetration causes heave at the ground surface, while settlements occur only in a thin veneer of material adjacent to the shaft and in a bulb-shaped region around the tip. The size of this region increases with the embedment depth. Deformations inside an open-ended pile/caisson are affected significantly by details of the simple tube wall geometry.

Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.

Science.gov (United States)

Thomas, P K; Kalaydjieva, L; Youl, B; Rogers, T; Angelicheva, D; King, R H; Guergueltcheva, V; Colomer, J; Lupu, C; Corches, A; Popa, G; Merlini, L; Shmarov, A; Muddle, J R; Nourallah, M; Tournev, I

2001-10-01

A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gypsies and termed hereditary motor and sensory neuropathy-Russe (HMSN-R). We investigated 21 affected individuals from 10 families. Distal lower limb weakness began between the ages of 8 and 16 years, upper limb involvement beginning between 10 and 43 years, with an average of 22 years. This progressive disorder led to severe weakness of the lower limbs, generalized in the oldest subject (aged 57 years), and marked distal upper limb weakness. Prominent distal sensory loss involved all modalities, resulting in neuropathic joint degeneration in two instances. All patients showed foot deformity, and most showed hand deformity. Motor nerve conduction velocity was moderately reduced in the upper limbs but unobtainable in the legs. Sensory nerve action potentials were absent. There was loss of larger myelinated nerve fibers and profuse regenerative activity in the sural nerve. HMSN-R is a new form of autosomal recessive inherited HMSN caused by a single founder mutation in a 1 Mb interval on chromosome 10q.

Implementation and Assessment of a Decentralized Load Frequency Control: Application to Power Systems with High Wind Energy Penetration