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Sample records for face ao novo

  1. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    PubMed Central

    Chong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C.M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J.M.; Klein Wassink-Ruiter, Jolien S.; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with “DA2A with severe neurological abnormalities” and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with “atypical” forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  2. AO Camelopardalis

    NASA Astrophysics Data System (ADS)

    Milone, E. F.; Piggott, D. H.; Morris, S. L.

    1982-04-01

    The first UBV light curves of the system AO Cam are presented, and reveal a W UMa light curve with a period of 0.329917 days. Fourier coefficients for the full B and V light curves were used to place approximate empirical limits on the 75-80 deg inclination, fill-out parameter of approximately 0.8, and mass-ratio in the 0.7-0.8 range, following the methods of Rucinski (1973, 1974). The spectral type of the system is about G5.

  3. Cometas: Das Lendas aos Fatos

    NASA Astrophysics Data System (ADS)

    Voelzke, M. R.

    O descobrimento de cometas, devido ao seu aparecimento espetacular, tem registro nas mais antigas culturas humanas. A primeira referência situa-se no ano de 1095 antes de Cristo [a.C.; HO; HO, 1962]. A quantidade de registros de descobrimentos cometários, principalmente provenientes do território chinês em particular e do oriente em geral, aumentou gradualmente a partir do quarto século depois de Cristo (d.C.). É de origem chinesa a primeira referência ao cometa P/Halley no ano de 240 a.C. [VOELZKE, 1993]. Com o desenvolvimento da astronomia relativamente às técnicas observacionais os descobrimentos bem como as observações cometárias aumentaram sensivelmente a partir do século XVII, sendo que a partir do século XIX um novo incremento ocorreu devido ao emprego da fotografia e a resultante melhora de sensibilidade na observação.

  4. NN-414. Novo Nordisk.

    PubMed

    Choi, Joong-Kwon

    2003-04-01

    Novo Nordisk is developing NN-414, an orally active beta-cell-selective regulator of insulin release, for the potential treatment of type 1 and type 2 diabetes. Phase 1 efficacy trials were underway by November 2000; these trials were ongoing in February 2002 and had been concluded by February 2003. PMID:12808887

  5. Retinal AO OCT

    NASA Astrophysics Data System (ADS)

    Zawadzki, Robert J.; Miller, Donald T.

    The last two decades have witnessed extraordinary advances in optical technology to image noninvasively and at high resolution the posterior segment of the eye. Two of the most impactful technological advancements over this period have arguably been optical coherence tomography (OCT) and adaptive optics (AO). The strengths of these technologies complement each other and when combined have been shown to provide unprecedented, micron-scale resolution (<3 μm) in all three dimensions and sensitivity to image the cellular retina in the living eye. This powerful extension of OCT, that is AO-OCT, is the focus of this chapter. It presents key aspects of designing and implementing AO-OCT systems. Particular attention is devoted to the relevant optical properties of the eye that ultimately define these systems, AO componentry and operation tailored for ophthalmic use, and of course use of the latest technologies and methods in OCT for ocular imaging. It surveys the wide range of AO-OCT designs that have been developed for retinal imaging, with AO integrated into every major OCT design configuration. Finally, it reviews the scientific and clinical studies reported to date that show the exciting potential of AO-OCT to image the microscopic retina and fundus in ways not previously possible with other noninvasive methods and a look to future developments in this rapidly growing field.

  6. Face pain

    MedlinePlus

    Face pain may be dull and throbbing or an intense, stabbing discomfort in the face or forehead. It can occur in one or ... Pain that starts in the face may be caused by a nerve problem, injury, or infection. Face pain may also begin in other places in the body. ...

  7. Game Face

    ERIC Educational Resources Information Center

    Weiner, Jill

    2005-01-01

    In this article, the author discusses "Game Face: Life Lessons Across the Curriculum", a teaching kit that challenges assumptions and builds confidence. Game Face, which is derived from a book and art exhibition, "Game Face: What Does a Female Athlete Look Like?", uses layered and powerful images of women and girls participating in sports to teach…

  8. AO Group Annual Report

    SciTech Connect

    Olivier, S

    2005-10-04

    The Adaptive Optics (AO) Group in I Division develops and tests a broad range of advanced wavefront control technologies. Current applications focus on: Remote sensing, High power lasers, Astronomy, and Human vision. In the area of remote sensing, the AO Group leads a collaborative effort with LLNL's Nonproliferation, Arms Control & International Security (NAI) Directorate on Enhanced Surveillance Imaging. The ability to detect and identify individual people or vehicles from long-range is an important requirement for proliferation detection and homeland security. High-resolution imaging along horizontal paths through the atmosphere is limited by turbulence, which blurs and distorts the image. For ranges over {approx}one km, visible image resolution can be reduced by over an order of magnitude. We have developed an approach based on speckle imaging that can correct the turbulence-induced blurring and provide high resolution imagery. The system records a series of short exposure images which freeze the atmospheric effects. We can then estimate the image magnitude and phase using a bispectral estimation algorithm which cancels the atmospheric effects while maintaining object information at the diffraction limit of the imaging system.

  9. Face Painting.

    ERIC Educational Resources Information Center

    Brooks, Diana

    1995-01-01

    Discusses the use of face painting as a technique for making the endangered species issue tangible for children while addressing the complexity of the issue. Children are "given" an animal of their own and are educated about the animal while having their faces painted to resemble the animal. (LZ)

  10. Face pain

    MedlinePlus

    ... gets worse when you bend forward) Tic douloureux Temporomandibular joint dysfunction syndrome Sometimes the reason for the face pain ... is persistent, unexplained, or accompanied by other unexplained symptoms. Call your primary provider. What to Expect at ...

  11. De novo trisomy 16p

    SciTech Connect

    Juan, J.L.C.; Cigudosa, J.C.; Gomez, A.O.

    1997-01-20

    We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2{r_arrow}p12). 9 refs., 3 figs.

  12. De novo mammalian prion synthesis

    PubMed Central

    Benetti, Federico

    2009-01-01

    Prions are responsible for a heterogeneous group of fatal neurodegenerative diseases. They can be sporadic, genetic, or infectious disorders involving post-translational modifications of the cellular prion protein (PrPC). Prions (PrPSc) are characterized by their infectious property and intrinsic ability to convert the physiological PrPC into the pathological form, acting as a template. The “protein-only” hypothesis, postulated by Stanley B. Prusiner, implies the possibility to generate de novo prions in vivo and in vitro. Here we describe major milestones towards proving this hypothesis, taking into account physiological environment/s, biochemical properties and interactors of the PrPC. PMID:19887900

  13. Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

    PubMed Central

    Jeon, Ga Won; Lee, Mi-Na; Jung, Ji Mi; Hong, Seong Yeon; Kim, Young Nam; Sin, Jong Beom

    2014-01-01

    Background Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysplasias. Methods In order to screen all possible genes associated with AO-like lethal skeletal dysplasias simultaneously, we performed whole-exome sequencing in a female newborn having clinical features of AO-I. Results Exome sequencing identified a novel missense variant (c.517G>A; p.Ala173Thr) in exon 2 of the FLNB gene in the patient. Sanger sequencing validated this variant, and genetic analysis of the patient's parents suggested a de novo occurrence of the variant. Conclusions This study shows that exome sequencing can be a useful tool for the identification of causative mutations in lethal skeletal dysplasia patients. PMID:24624349

  14. Funny Faces.

    ERIC Educational Resources Information Center

    Greene, Yvonne

    2000-01-01

    Presents a torn-paper and gadget-print activity for younger students, specifically pre-kindergarten to first grade, that can be done any time over the school year or at Halloween. Discusses how the students create their funny faces and lists the materials needed. (CMK)

  15. De novo mutations in epileptic encephalopathies.

    PubMed

    Allen, Andrew S; Berkovic, Samuel F; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E; Epstein, Michael P; Glauser, Tracy; Goldstein, David B; Han, Yujun; Heinzen, Erin L; Hitomi, Yuki; Howell, Katherine B; Johnson, Michael R; Kuzniecky, Ruben; Lowenstein, Daniel H; Lu, Yi-Fan; Madou, Maura R Z; Marson, Anthony G; Mefford, Heather C; Esmaeeli Nieh, Sahar; O'Brien, Terence J; Ottman, Ruth; Petrovski, Slavé; Poduri, Annapurna; Ruzzo, Elizabeth K; Scheffer, Ingrid E; Sherr, Elliott H; Yuskaitis, Christopher J; Abou-Khalil, Bassel; Alldredge, Brian K; Bautista, Jocelyn F; Berkovic, Samuel F; Boro, Alex; Cascino, Gregory D; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P; Fiol, Miguel; Fountain, Nathan B; French, Jacqueline; Friedman, Daniel; Geller, Eric B; Glauser, Tracy; Glynn, Simon; Haut, Sheryl R; Hayward, Jean; Helmers, Sandra L; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E; Knowlton, Robert C; Kossoff, Eric H; Kuperman, Rachel; Kuzniecky, Ruben; Lowenstein, Daniel H; McGuire, Shannon M; Motika, Paul V; Novotny, Edward J; Ottman, Ruth; Paolicchi, Juliann M; Parent, Jack M; Park, Kristen; Poduri, Annapurna; Scheffer, Ingrid E; Shellhaas, Renée A; Sherr, Elliott H; Shih, Jerry J; Singh, Rani; Sirven, Joseph; Smith, Michael C; Sullivan, Joseph; Lin Thio, Liu; Venkat, Anu; Vining, Eileen P G; Von Allmen, Gretchen K; Weisenberg, Judith L; Widdess-Walsh, Peter; Winawer, Melodie R

    2013-09-12

    Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 × 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 × 10(-10) and P = 7.8 × 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P < 10(-8)), as has been reported previously for autism spectrum disorders. PMID:23934111

  16. MEMS AO for Planet Finding

    NASA Technical Reports Server (NTRS)

    Rao, Shanti; Wallace, J. Kent; Shao, Mike; Schmidtlin, Edouard; Levine, B. Martin; Samuele, Rocco; Lane, Benjamin; Chakrabarti, Supriya; Cook, Timothy; Hicks, Brian; Jung, Paul

    2008-01-01

    This slide presentation reviews a method for planet finding using microelectromechanical systems (MEMS) Adaptive Optics (AO). The use of a deformable mirror (DM) is described as a part of the instrument that was designed with a nulling interferometer. The strategy that is used is described in detail.

  17. Aperture masking behind AO systems

    NASA Astrophysics Data System (ADS)

    Ireland, Michael J.

    2012-07-01

    Sparse Aperture-Mask Interferometry (SAM or NRM) behind Adaptive Optics (AO) has now come of age, with more than a dozen astronomy papers published from several 5-10m class telescopes around the world. I will describe the reasons behind its success in achieving relatively high contrasts ( 1000:1 at lambda/ D) and repeatable binary astronomy at the diffraction limit, even when used behind laser-guide star adaptive optics. Placed within the context of AO calibration, the information in an image can be split into pupil-plane phase, Fourier amplitude and closure-phase. It is the closure-phase observable, or its generalisation to Kernel phase, that is immune to pupil-plane phase errors at first and second-order and has been the reason for the technique's success. I will outline the limitations of the technique and the prospects for aperture-masking and related techniques in the future.

  18. De Novo Genesis of Enhancers in Vertebrates

    PubMed Central

    Eichenlaub, Michael P.; Ettwiller, Laurence

    2011-01-01

    Evolutionary innovation relies partially on changes in gene regulation. While a growing body of evidence demonstrates that such innovation is generated by functional changes or translocation of regulatory elements via mobile genetic elements, the de novo generation of enhancers from non-regulatory/non-mobile sequences has, to our knowledge, not previously been demonstrated. Here we show evidence for the de novo genesis of enhancers in vertebrates. For this, we took advantage of the massive gene loss following the last whole genome duplication in teleosts to systematically identify regions that have lost their coding capacity but retain sequence conservation with mammals. We found that these regions show enhancer activity while the orthologous coding regions have no regulatory activity. These results demonstrate that these enhancers have been de novo generated in fish. By revealing that minor changes in non-regulatory sequences are sufficient to generate new enhancers, our study highlights an important playground for creating new regulatory variability and evolutionary innovation. PMID:22069375

  19. Cobalamin deficiency triggering de novo status epilepticus.

    PubMed

    Anastogiannis, Haralabos; Karanasios, Panagiotis; Makridou, Alexandra; Makris, Nicolaos; Argyriou, Andreas A

    2014-03-01

    Cobalamin deficiency is included in the spectrum of very uncommon underlying causes of status epilepticus (SE) and the literature contains very few such cases. We herein report a case of unusual presentation of cobalamin (vitamin B12) deficiency with de novo SE with the intention to bolster the argument that a de novo manifestation of SE due to cobalamin deficiency might not be that uncommon. We also support the importance of prompt identification and treatment of the underlying causes of SE, particularly those which are uncommon. PMID:24659635

  20. Face adaptation depends on seeing the face.

    PubMed

    Moradi, Farshad; Koch, Christof; Shimojo, Shinsuke

    2005-01-01

    Retinal input that is suppressed from visual awareness can nevertheless produce measurable aftereffects, revealing neural processes that do not directly result in a conscious percept. We here report that the face identity-specific aftereffect requires a visible face; it is effectively cancelled by binocular suppression or by inattentional blindness of the inducing face. Conversely, the same suppression does not interfere with the orientation-specific aftereffect. Thus, the competition between incompatible or interfering visual inputs to reach awareness is resolved before those aspects of information that are exploited in face identification are processed. We also found that the face aftereffect remained intact when the visual distracters in the inattention experiment were replaced with auditory distracters. Thus, cross-modal or cognitive interference that does not affect the visibility of the face does not interfere with the face aftereffect. We conclude that adaptation to face identity depends on seeing the face. PMID:15629711

  1. Decoding germline de novo point mutations.

    PubMed

    Goriely, Anne

    2016-07-27

    Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs. PMID:27463396

  2. Proteomics-grade de novo sequencing approach.

    PubMed

    Savitski, Mikhail M; Nielsen, Michael L; Kjeldsen, Frank; Zubarev, Roman A

    2005-01-01

    The conventional approach in modern proteomics to identify proteins from limited information provided by molecular and fragment masses of their enzymatic degradation products carries an inherent risk of both false positive and false negative identifications. For reliable identification of even known proteins, complete de novo sequencing of their peptides is desired. The main problems of conventional sequencing based on tandem mass spectrometry are incomplete backbone fragmentation and the frequent overlap of fragment masses. In this work, the first proteomics-grade de novo approach is presented, where the above problems are alleviated by the use of complementary fragmentation techniques CAD and ECD. Implementation of a high-current, large-area dispenser cathode as a source of low-energy electrons provided efficient ECD of doubly charged peptides, the most abundant species (65-80%), in a typical trypsin-based proteomics experiment. A new linear de novo algorithm is developed combining efficiency and speed, processing on a conventional 3 GHz PC, 1000 MS/MS data sets in 60 s. More than 6% of all MS/MS data for doubly charged peptides yielded complete sequences, and another 13% gave nearly complete sequences with a maximum gap of two amino acid residues. These figures are comparable with the typical success rates (5-15%) of database identification. For peptides reliably found in the database (Mowse score > or = 34), the agreement with de novo-derived full sequences was >95%. Full sequences were derived in 67% of the cases when full sequence information was present in MS/MS spectra. Thus the new de novo sequencing approach reached the same level of efficiency and reliability as conventional database-identification strategies. PMID:16335984

  3. Mapping Teacher-Faces

    ERIC Educational Resources Information Center

    Thompson, Greg; Cook, Ian

    2013-01-01

    This paper uses Deleuze and Guattari's concept of faciality to analyse the teacher's face. According to Deleuze and Guattari, the teacher-face is a special type of face because it is an "overcoded" face produced in specific landscapes. This paper suggests four limit-faces for teacher faciality that actualise different mixes of significance and…

  4. Learning Faces from Photographs

    ERIC Educational Resources Information Center

    Longmore, Christopher A.; Liu, Chang Hong; Young, Andrew W.

    2008-01-01

    Previous studies examining face learning have mostly used only a single exposure to 1 image of each of the faces to be learned. However, in daily life, faces are usually learned from multiple encounters. These 6 experiments examined the effects on face learning of repeated exposures to single or multiple images of a face. All experiments…

  5. A Face Inversion Effect without a Face

    ERIC Educational Resources Information Center

    Brandman, Talia; Yovel, Galit

    2012-01-01

    Numerous studies have attributed the face inversion effect (FIE) to configural processing of internal facial features in upright but not inverted faces. Recent findings suggest that face mechanisms can be activated by faceless stimuli presented in the context of a body. Here we asked whether faceless stimuli with or without body context may induce…

  6. Head and face reconstruction

    MedlinePlus

    Head and face reconstruction is surgery to repair or reshape deformities of the head and face (craniofacial). ... How surgery for head and face deformities (craniofacial reconstruction) ... and the person's condition. Surgical repairs involve the ...

  7. Aerosol Observing System (AOS) Handbook

    SciTech Connect

    Jefferson, A

    2011-01-17

    The Aerosol Observing System (AOS) is a suite of in situ surface measurements of aerosol optical and cloud-forming properties. The instruments measure aerosol properties that influence the earth’s radiative balance. The primary optical measurements are those of the aerosol scattering and absorption coefficients as a function of particle size and radiation wavelength and cloud condensation nuclei (CCN) measurements as a function of percent supersaturation. Additional measurements include those of the particle number concentration and scattering hygroscopic growth. Aerosol optical measurements are useful for calculating parameters used in radiative forcing calculations such as the aerosol single-scattering albedo, asymmetry parameter, mass scattering efficiency, and hygroscopic growth. CCN measurements are important in cloud microphysical models to predict droplet formation.

  8. Nanomedicine: de novo design of nanodrugs.

    PubMed

    Yang, Zaixing; Kang, Seung-gu; Zhou, Ruhong

    2014-01-21

    Phenomenal advances in nanotechnology and nanoscience have been accompanied by exciting progress in de novo design of nanomedicines. Nanoparticles with their large space of structural amenability and excellent mechanical and electrical properties have become ideal candidates for high efficacy nanomedicines in both diagnostics and therapeutics. The therapeutic nanomedicines can be further categorized into nanocarriers for conventional drugs and nanodrugs with direct curing of target diseases. Here we review some of the recent advances in de novo design of nanodrugs, with an emphasis on the molecular level understanding of their interactions with biological systems including key proteins and cell membranes. We also include some of the latest advances in the development of nanocarriers with both passive and active targeting for completeness. These studies may shed light on a better understanding of the molecular mechanisms behind these nanodrugs, and also provide new insights and direction for the future design of nanomedicines. PMID:24305636

  9. Nanomedicine: de novo design of nanodrugs

    NASA Astrophysics Data System (ADS)

    Yang, Zaixing; Kang, Seung-Gu; Zhou, Ruhong

    2013-12-01

    Phenomenal advances in nanotechnology and nanoscience have been accompanied by exciting progress in de novo design of nanomedicines. Nanoparticles with their large space of structural amenability and excellent mechanical and electrical properties have become ideal candidates for high efficacy nanomedicines in both diagnostics and therapeutics. The therapeutic nanomedicines can be further categorized into nanocarriers for conventional drugs and nanodrugs with direct curing of target diseases. Here we review some of the recent advances in de novo design of nanodrugs, with an emphasis on the molecular level understanding of their interactions with biological systems including key proteins and cell membranes. We also include some of the latest advances in the development of nanocarriers with both passive and active targeting for completeness. These studies may shed light on a better understanding of the molecular mechanisms behind these nanodrugs, and also provide new insights and direction for the future design of nanomedicines.

  10. Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

    PubMed Central

    Besenbacher, Søren; Liu, Siyang; Izarzugaza, José M. G.; Grove, Jakob; Belling, Kirstine; Bork-Jensen, Jette; Huang, Shujia; Als, Thomas D.; Li, Shengting; Yadav, Rachita; Rubio-García, Arcadio; Lescai, Francesco; Demontis, Ditte; Rao, Junhua; Ye, Weijian; Mailund, Thomas; Friborg, Rune M.; Pedersen, Christian N. S.; Xu, Ruiqi; Sun, Jihua; Liu, Hao; Wang, Ou; Cheng, Xiaofang; Flores, David; Rydza, Emil; Rapacki, Kristoffer; Damm Sørensen, John; Chmura, Piotr; Westergaard, David; Dworzynski, Piotr; Sørensen, Thorkild I. A.; Lund, Ole; Hansen, Torben; Xu, Xun; Li, Ning; Bolund, Lars; Pedersen, Oluf; Eiberg, Hans; Krogh, Anders; Børglum, Anders D.; Brunak, Søren; Kristiansen, Karsten; Schierup, Mikkel H.; Wang, Jun; Gupta, Ramneek; Villesen, Palle; Rasmussen, Simon

    2015-01-01

    Building a population-specific catalogue of single nucleotide variants (SNVs), indels and structural variants (SVs) with frequencies, termed a national pan-genome, is critical for further advancing clinical and public health genetics in large cohorts. Here we report a Danish pan-genome obtained from sequencing 10 trios to high depth (50 × ). We report 536k novel SNVs and 283k novel short indels from mapping approaches and develop a population-wide de novo assembly approach to identify 132k novel indels larger than 10 nucleotides with low false discovery rates. We identify a higher proportion of indels and SVs than previous efforts showing the merits of high coverage and de novo assembly approaches. In addition, we use trio information to identify de novo mutations and use a probabilistic method to provide direct estimates of 1.27e−8 and 1.5e−9 per nucleotide per generation for SNVs and indels, respectively. PMID:25597990

  11. Facing facts: neuronal mechanisms of face perception.

    PubMed

    Dekowska, Monika; Kuniecki, Michał; Jaśkowski, Piotr

    2008-01-01

    The face is one of the most important stimuli carrying social meaning. Thanks to the fast analysis of faces, we are able to judge physical attractiveness and features of their owners' personality, intentions, and mood. From one's facial expression we can gain information about danger present in the environment. It is obvious that the ability to process efficiently one's face is crucial for survival. Therefore, it seems natural that in the human brain there exist structures specialized for face processing. In this article, we present recent findings from studies on the neuronal mechanisms of face perception and recognition in the light of current theoretical models. Results from brain imaging (fMRI, PET) and electrophysiology (ERP, MEG) show that in face perception particular regions (i.e. FFA, STS, IOA, AMTG, prefrontal and orbitofrontal cortex) are involved. These results are confirmed by behavioral data and clinical observations as well as by animal studies. The developmental findings reviewed in this article lead us to suppose that the ability to analyze face-like stimuli is hard-wired and improves during development. Still, experience with faces is not sufficient for an individual to become an expert in face perception. This thesis is supported by the investigation of individuals with developmental disabilities, especially with autistic spectrum disorders (ASD). PMID:18511959

  12. Attention Capture by Faces

    ERIC Educational Resources Information Center

    Langton, Stephen R. H.; Law, Anna S.; Burton, A. Mike; Schweinberger, Stefan R.

    2008-01-01

    We report three experiments that investigate whether faces are capable of capturing attention when in competition with other non-face objects. In Experiment 1a participants took longer to decide that an array of objects contained a butterfly target when a face appeared as one of the distracting items than when the face did not appear in the array.…

  13. The triple system AO Monocerotis

    NASA Astrophysics Data System (ADS)

    Wolf, M.; Kučáková, H.; Hynek, T.; Melcer, L. Å.

    2010-05-01

    The variable star AO Mon is a relatively bright but seldom investigated early-type eccentric eclipsing binary. Thirty new eclipses were measured as a part of our long-term observational project or derived from previous measurements. Based on a new solution of the current O-C diagram, we found for the first time a rapid apsidal advance superimposed with a light-time effect caused by a third unseen body in the system. Their short periods are 33.8 years and 3.6 years for the apsidal motion and the third-body circular orbit, respectively. The observed internal structure constant was derived to be log k2, obs = -2.23, which is close to the theoretically expected value. The relativistic as well as the third-body effects on the apsidal advance are negligible, as they are only about 3% of the total apsidal motion rate. Partly based on observations secured at the South African Astronomical Observatory, Sutherland, South Africa, in April 2004.

  14. Familiar face + novel face = familiar face? Representational bias in the perception of morphed faces in chimpanzees.

    PubMed

    Matsuda, Yoshi-Taka; Myowa-Yamakoshi, Masako; Hirata, Satoshi

    2016-01-01

    Highly social animals possess a well-developed ability to distinguish the faces of familiar from novel conspecifics to induce distinct behaviors for maintaining society. However, the behaviors of animals when they encounter ambiguous faces of familiar yet novel conspecifics, e.g., strangers with faces resembling known individuals, have not been well characterised. Using a morphing technique and preferential-looking paradigm, we address this question via the chimpanzee's facial-recognition abilities. We presented eight subjects with three types of stimuli: (1) familiar faces, (2) novel faces and (3) intermediate morphed faces that were 50% familiar and 50% novel faces of conspecifics. We found that chimpanzees spent more time looking at novel faces and scanned novel faces more extensively than familiar or intermediate faces. Interestingly, chimpanzees looked at intermediate faces in a manner similar to familiar faces with regards to the fixation duration, fixation count, and saccade length for facial scanning, even though the participant was encountering the intermediate faces for the first time. We excluded the possibility that subjects merely detected and avoided traces of morphing in the intermediate faces. These findings suggest a bias for a feeling-of-familiarity that chimpanzees perceive familiarity with an intermediate face by detecting traces of a known individual, as 50% alternation is sufficient to perceive familiarity. PMID:27602275

  15. Familiar face + novel face = familiar face? Representational bias in the perception of morphed faces in chimpanzees

    PubMed Central

    Myowa-Yamakoshi, Masako

    2016-01-01

    Highly social animals possess a well-developed ability to distinguish the faces of familiar from novel conspecifics to induce distinct behaviors for maintaining society. However, the behaviors of animals when they encounter ambiguous faces of familiar yet novel conspecifics, e.g., strangers with faces resembling known individuals, have not been well characterised. Using a morphing technique and preferential-looking paradigm, we address this question via the chimpanzee’s facial–recognition abilities. We presented eight subjects with three types of stimuli: (1) familiar faces, (2) novel faces and (3) intermediate morphed faces that were 50% familiar and 50% novel faces of conspecifics. We found that chimpanzees spent more time looking at novel faces and scanned novel faces more extensively than familiar or intermediate faces. Interestingly, chimpanzees looked at intermediate faces in a manner similar to familiar faces with regards to the fixation duration, fixation count, and saccade length for facial scanning, even though the participant was encountering the intermediate faces for the first time. We excluded the possibility that subjects merely detected and avoided traces of morphing in the intermediate faces. These findings suggest a bias for a feeling-of-familiarity that chimpanzees perceive familiarity with an intermediate face by detecting traces of a known individual, as 50% alternation is sufficient to perceive familiarity. PMID:27602275

  16. Digital 'faces' of synthetic biology.

    PubMed

    Friedrich, Kathrin

    2013-06-01

    In silicio design plays a fundamental role in the endeavour to synthesise biological systems. In particular, computer-aided design software enables users to manage the complexity of biological entities that is connected to their construction and reconfiguration. The software's graphical user interface bridges the gap between the machine-readable data on the algorithmic subface of the computer and its human-amenable surface represented by standardised diagrammatic elements. Notations like the Systems Biology Graphical Notation (SBGN), together with interactive operations such as drag & drop, allow the user to visually design and simulate synthetic systems as 'bio-algorithmic signs'. Finally, the digital programming process should be extended to the wet lab to manufacture the designed synthetic biological systems. By exploring the different 'faces' of synthetic biology, I argue that in particular computer-aided design (CAD) is pushing the idea to automatically produce de novo objects. Multifaceted software processes serve mutually aesthetic, epistemic and performative purposes by simultaneously black-boxing and bridging different data sources, experimental operations and community-wide standards. So far, synthetic biology is mainly a product of digital media technologies that structurally mimic the epistemological challenge to take both qualitative as well as quantitative aspects of biological systems into account in order to understand and produce new and functional entities. PMID:23578486

  17. Programmed versus Face-to-Face Counseling

    ERIC Educational Resources Information Center

    Gilbert, William M.; Ewing, Thomas N.

    1971-01-01

    A comparison was made of the effectiveness of a programmed Self-Counseling Manual and a normal precollege counseling interview by experienced counselors. Findings supported the use of programmed counseling as an adjunct to or substitute for face-to-face counseling. (Author)

  18. Mechanisms of face perception

    PubMed Central

    Tsao, Doris Y.

    2009-01-01

    Faces are among the most informative stimuli we ever perceive: Even a split-second glimpse of a person's face tells us their identity, sex, mood, age, race, and direction of attention. The specialness of face processing is acknowledged in the artificial vision community, where contests for face recognition algorithms abound. Neurological evidence strongly implicates a dedicated machinery for face processing in the human brain, to explain the double dissociability of face and object recognition deficits. Furthermore, it has recently become clear that macaques too have specialized neural machinery for processing faces. Here we propose a unifying hypothesis, deduced from computational, neurological, fMRI, and single-unit experiments: that what makes face processing special is that it is gated by an obligatory detection process. We will clarify this idea in concrete algorithmic terms, and show how it can explain a variety of phenomena associated with face processing. PMID:18558862

  19. De Novo Lipogenesis Products and Endogenous Lipokines.

    PubMed

    Yilmaz, Mustafa; Claiborn, Kathryn C; Hotamisligil, Gökhan S

    2016-07-01

    Recent studies have shown that in addition to their traditionally recognized functions as building blocks, energy stores, or hazardous intermediates, lipids also have the ability to act as signaling molecules with potent effects on systemic metabolism and metabolic diseases. This Perspective highlights this somewhat less apparent biology of lipids, especially focusing on de novo lipogenesis as a process that gives rise to key messenger molecules mediating interorgan communication. Elucidating the mechanisms of lipid-dependent coordination of metabolism promises invaluable insights into the understanding of metabolic diseases and may contribute to the development of a new generation of preventative and therapeutic approaches. PMID:27288005

  20. Insulated face brick

    SciTech Connect

    Cromrich, J.; Cromrich, L.B.

    1990-10-16

    This patent describes a method for forming insulated brick intended solely for use in building walls and having superior insulation qualities and lighter weight consonant with the load bearing capabilities of building bricks and the appearance of facing brick. It comprises dry mixing two parts of vermiculite and one part of brick clay, thereby forming a dry mixture having a vermiculite to clay ratio of approximately two-to-one by volume; adding water to the dry mixture and mixing, so that a substantially dry admixture having expanded vermiculite and brick clay is formed; forming a facing layer solely from brick clay; molding and compressing the substantially dry admixture, so as to form a generally rectangular main body layer having parallel top and bottom faces, a pair of parallel side faces and a pair of parallel end faces, respectively, the top and bottom faces being substantially larger in area than the respective side faces, and the side faces being substantially larger in area than the respective end faces, the body layer further having at least one bore formed therein, the bore running from the top face to the bottom face perpendicularly thereto and substantially parallel to the side surfaces thereof, the bore being substantially centrally disposed and wherein the facing layer is disposed on one of the side surfaces of the body portion; curing the molded admixture having the facing layer disposed thereon; whereby a cured brick is formed; and firing the cured brick and the facing layer disposed thereon, whereby an integral brick is formed having top and bottom faces of the brick which are entirely devoid of facing layers, wherein the brick has the desired load bearing capability substantially between its top and bottom faces, whereby the outer facing layer only provides the desired appearance and weather resistance, and further whereby the weight of the brick is substantially reduced.

  1. Comparative analysis of de novo transcriptome assembly.

    PubMed

    Clarke, Kaitlin; Yang, Yi; Marsh, Ronald; Xie, Linglin; Zhang, Ke K

    2013-02-01

    The fast development of next-generation sequencing technology presents a major computational challenge for data processing and analysis. A fast algorithm, de Bruijn graph has been successfully used for genome DNA de novo assembly; nevertheless, its performance for transcriptome assembly is unclear. In this study, we used both simulated and real RNA-Seq data, from either artificial RNA templates or human transcripts, to evaluate five de novo assemblers, ABySS, Mira, Trinity, Velvet and Oases. Of these assemblers, ABySS, Trinity, Velvet and Oases are all based on de Bruijn graph, and Mira uses an overlap graph algorithm. Various numbers of RNA short reads were selected from the External RNA Control Consortium (ERCC) data and human chromosome 22. A number of statistics were then calculated for the resulting contigs from each assembler. Each experiment was repeated multiple times to obtain the mean statistics and standard error estimate. Trinity had relative good performance for both ERCC and human data, but it may not consistently generate full length transcripts. ABySS was the fastest method but its assembly quality was low. Mira gave a good rate for mapping its contigs onto human chromosome 22, but its computational speed is not satisfactory. Our results suggest that transcript assembly remains a challenge problem for bioinformatics society. Therefore, a novel assembler is in need for assembling transcriptome data generated by next generation sequencing technique. PMID:23393031

  2. De Novo Construction of Redox Active Proteins.

    PubMed

    Moser, C C; Sheehan, M M; Ennist, N M; Kodali, G; Bialas, C; Englander, M T; Discher, B M; Dutton, P L

    2016-01-01

    Relatively simple principles can be used to plan and construct de novo proteins that bind redox cofactors and participate in a range of electron-transfer reactions analogous to those seen in natural oxidoreductase proteins. These designed redox proteins are called maquettes. Hydrophobic/hydrophilic binary patterning of heptad repeats of amino acids linked together in a single-chain self-assemble into 4-alpha-helix bundles. These bundles form a robust and adaptable frame for uncovering the default properties of protein embedded cofactors independent of the complexities introduced by generations of natural selection and allow us to better understand what factors can be exploited by man or nature to manipulate the physical chemical properties of these cofactors. Anchoring of redox cofactors such as hemes, light active tetrapyrroles, FeS clusters, and flavins by His and Cys residues allow cofactors to be placed at positions in which electron-tunneling rates between cofactors within or between proteins can be predicted in advance. The modularity of heptad repeat designs facilitates the construction of electron-transfer chains and novel combinations of redox cofactors and new redox cofactor assisted functions. Developing de novo designs that can support cofactor incorporation upon expression in a cell is needed to support a synthetic biology advance that integrates with natural bioenergetic pathways. PMID:27586341

  3. Face powder poisoning

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/002700.htm Face powder poisoning To use the sharing features on this page, please enable JavaScript. Face powder poisoning occurs when someone swallows or breathes ...

  4. Face powder poisoning

    MedlinePlus

    Face powder poisoning occurs when someone swallows or breathes in this substance. This article is for information ... The ingredients in face powder that can be harmful are: Baking soda Talcum powder Many other types of powder

  5. Innate face processing.

    PubMed

    Sugita, Yoichi

    2009-02-01

    Recent monkey studies provide intriguing information for an open question whether face processing is a special perceptual process and is organized as such at birth, or has its origin in a more general system that becomes specialized with experience. Before seeing any faces or face-like objects, macaque monkeys showed a preference for faces rather than nonface objects. Furthermore, they showed remarkable face processing abilities both for human and monkey faces. It was also shown that macaque newborns are able to imitate human facial gestures, indicating the ability to match their own facial movements to observed facial gestures. Taken together, it seems very likely that newborns can acquire the knowledge about the basic structure of their own face, presumably through proprioception, so that facial structure would become a familiar and attractive visual object without the experience of the face itself. PMID:19339171

  6. FacingDisability.com

    MedlinePlus

    ... About Blog Facing Disability Jeff Shannon Donate A Spinal Cord Injury Affects the Entire Family FacingDisability was specifically created ... and insights on spinal cord injury issues Interactive Spinal Cord Injury Map Shows what areas are affected by spinal ...

  7. Face to Face Communications in Space

    NASA Technical Reports Server (NTRS)

    Cohen, Malcolm M.; Davon, Bonnie P. (Technical Monitor)

    1999-01-01

    It has been reported that human face-to-face communications in space are compromised by facial edema, variations in the orientations of speakers and listeners, and background noises that are encountered in the shuttle and in space stations. To date, nearly all reports have been anecdotal or subjective, in the form of post-flight interviews or questionnaires; objective and quantitative data are generally lacking. Although it is acknowledged that efficient face-to-face communications are essential for astronauts to work safely and effectively, specific ways in which the space environment interferes with non-linguistic communication cues are poorly documented. Because we have only a partial understanding of how non-linguistic communication cues may change with mission duration, it is critically important to obtain objective data, and to evaluate these cues under well-controlled experimental conditions.

  8. De novo CNVs in bipolar affective disorder and schizophrenia

    PubMed Central

    Georgieva, Lyudmila; Rees, Elliott; Moran, Jennifer L.; Chambert, Kimberly D.; Milanova, Vihra; Craddock, Nicholas; Purcell, Shaun; Sklar, Pamela; McCarroll, Steven; Holmans, Peter; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George

    2014-01-01

    An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We used Illumina microarrays to genotype 368 BD probands, 76 SZ probands and all their parents. Copy number variants were called by PennCNV and filtered for frequency (<1%) and size (>10 kb). Putative de novo CNVs were validated with the z-score algorithm, manual inspection of log R ratios (LRR) and qPCR probes. We found 15 de novo CNVs in BD (4.1% rate) and 6 in SZ (7.9% rate). Combining results with previous studies and using a cut-off of >100 kb, the rate of de novo CNVs in BD was intermediate between controls and SZ: 1.5% in controls, 2.2% in BD and 4.3% in SZ. Only the differences between SZ and BD and SZ and controls were significant. The median size of de novo CNVs in BD (448 kb) was also intermediate between SZ (613 kb) and controls (338 kb), but only the comparison between SZ and controls was significant. Only one de novo CNV in BD was in a confirmed SZ locus (16p11.2). Sporadic or early onset cases were not more likely to have de novo CNVs. We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations. PMID:25055870

  9. The Magellan Telescope adaptive secondary AO system

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Gasho, Victor; Kopon, Derek; Hinz, Phil M.; Hoffmann, William F.; Uomoto, Alan; Hare, Tyson

    2008-07-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in southern Chile at Las Campanas Observatory. The Gregorian design allows for an adaptive secondary mirror that can be tested off-sky in a straight-forward manner. We have fabricated a 85 cm diameter aspheric adaptive secondary with our subcontractors and partners. This secondary has 585 actuators with <1 msec response times. The chopping adaptive secondary will allow low emissivity AO science. We will achieve very high Strehls (~98%) in the Mid-IR AO (8-26 microns) with the BLINC/MIRAC4 Mid-IR science camera. This will allow the first "super-resolution" and nulling Mid-IR studies of dusty southern objects. We will employ a high order (585 mode) pyramid wavefront sensor similar to that used in the Large Binocular Telescope AO systems. The relatively high actuator count will allow modest Strehls to be obtained in the visible (~0.8μm). Our visible light AO (Vis AO) science camera is fed by an advanced ADC and beamsplitter piggy-backed on the WFS optical table. The system science and performance requirements, and an overview the design, interface and schedule for the Magellan AO system are presented here.

  10. Energy efficient face seal

    NASA Technical Reports Server (NTRS)

    Sehnal, J.; Sedy, J.; Etsion, I.; Zobens, A.

    1982-01-01

    Torque, face temperature, leakage, and wear of a flat face seal were compared with three coned face seals at pressures up to 2758 kPa and speeds up to 8000 rpm. Axial movement of the mating seal parts was recorded by a digital data acquisition system. The coning of the tungsten carbide primary ring ranged from .51 micro-m to 5.6 micro-m. The torque of the coned face seal balanced to 76.3% was an average 42% lower, the leakage eleven times higher, than that of the standard flat face seal. The reduction of the balance of the coned face seal to 51.3% resulted by decreasing the torque by an additional 44% and increasing leakage 12 to 230 times, depending on the seal shaft speed. No measurable wear was observed on the face of the coned seals.

  11. De Novo Kidney Regeneration with Stem Cells

    PubMed Central

    Yokote, Shinya; Yamanaka, Shuichiro; Yokoo, Takashi

    2012-01-01

    Recent studies have reported on techniques to mobilize and activate endogenous stem-cells in injured kidneys or to introduce exogenous stem cells for tissue repair. Despite many recent advantages in renal regenerative therapy, chronic kidney disease (CKD) remains a major cause of morbidity and mortality and the number of CKD patients has been increasing. When the sophisticated structure of the kidneys is totally disrupted by end stage renal disease (ESRD), traditional stem cell-based therapy is unable to completely regenerate the damaged tissue. This suggests that whole organ regeneration may be a promising therapeutic approach to alleviate patients with uncured CKD. We summarize here the potential of stem-cell-based therapy for injured tissue repair and de novo whole kidney regeneration. In addition, we describe the hurdles that must be overcome and possible applications of this approach in kidney regeneration. PMID:23251079

  12. De Novo Gastric Cancer After Liver Transplantation.

    PubMed

    Gong, Chung-Sik; Yoo, Moon-Won; Kim, Beom-Su; Hwang, Shin; Kim, Ki-Hun; Yook, Jeong-Hwan; Kim, Byung-Sik; Lee, Sung-Gyu

    2016-01-01

    BACKGROUND In South Korea, which has a high incidence of gastric cancer, the most common de novo malignancy associated with liver transplantation is gastric cancer. This study sought to identify clinicopathologic characteristics in gastric cancer patients after liver transplantation, and to help manage these cases. MATERIAL AND METHODS We investigated gastric cancer patients after liver transplantation at Asan Medical Center. We analyzed sex, age, cause of liver transplantation, initiating immunosuppressant, pre-transplantation gastric fibroscopy findings, time interval between transplantation and gastric cancer occurrence, follow-up period, existence of gastric cancer screening, Helicobacter pylori infection, family cancer history, gastric cancer treatment, cancer location, size of tumor, macroscopic gross type, WHO histologic type, Lauren's classification, TNM stage, and survival. RESULTS Of 2968 adult liver transplantation patients at our hospital, 19 were diagnosed with gastric cancer. The mean age at the time of gastric cancer diagnosis was 60.2±6.8 (46-71) years and mean time interval between liver transplantation and diagnosis of gastric cancer was 56.0±30.7 (3.20-113) months. Endoscopic submucosal dissection was done for 10 patients, 4 of whom underwent surgical resection. Surgical resection as an initial treatment was done in 8 patients. One patient received chemotherapy first. The standard incidence ratio of gastric cancer in these patients was 1036 per 100 000 persons (95% CI, 623.7-1,619) in men and 318.9 per 100 000 (95% CI, 4.170-1,774) in women. CONCLUSIONS For long-term survival of liver transplant patients, early detection of de novo cancer is necessary. Therefore, annual screening for gastric cancer after liver transplantation is needed, especially in areas where the incidence of gastric cancer is high, such as South Korea. PMID:27334929

  13. De novo mutations in the classic epileptic encephalopathies

    PubMed Central

    2013-01-01

    Epileptic encephalopathies (EE) are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here, we report a screen for de novo mutations in patients with two classical EE: infantile spasms (IS, n=149) and Lennox-Gastaut Syndrome (LGS, n=115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ~4,000 genes that are the most intolerant to functional genetic variation in the human population (p=2.9 × 10−3). Among these are GABRB3 with de novo mutations in four patients and ALG13 with the same de novo mutation in two patients; both genes show clear statistical evidence of association. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are p=4.1 × 10−10 and p=7.8 × 10−12, respectively. Other genes with de novo mutations in this cohort include: CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HDAC4, HNRNPU, IQSEC2, MTOR, and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the Fragile X protein (p<10−8), as was reported for autism spectrum disorders (ASD)1. PMID:23934111

  14. The Representation and Processing of Familiar Faces in Dyslexia: Differences in Age of Acquisition Effects

    ERIC Educational Resources Information Center

    Smith-Spark, James H.; Moore, Viv

    2009-01-01

    Two under-explored areas of developmental dyslexia research, face naming and age of acquisition (AoA), were investigated. Eighteen dyslexic and 18 non-dyslexic university students named the faces of 50 well-known celebrities, matched for facial distinctiveness and familiarity. Twenty-five of the famous people were learned early in life, while the…

  15. Into the blue: AO science with MagAO in the visible

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Males, Jared R.; Follette, Katherine B.; Hinz, Phil; Morzinski, Katie; Wu, Ya-Lin; Kopon, Derek; Riccardi, Armando; Esposito, Simone; Puglisi, Alfio; Pinna, Enrico; Xompero, Marco; Briguglio, Runa; Quiros-Pacheco, Fernando

    2014-08-01

    We review astronomical results in the visible (λ<1μm) with adaptive optics. Other than a brief period in the early 1990s, there has been little astronomical science done in the visible with AO until recently. The most productive visible AO system to date is our 6.5m Magellan telescope AO system (MagAO). MagAO is an advanced Adaptive Secondary system at the Magellan 6.5m in Chile. This secondary has 585 actuators with < 1 msec response times (0.7 ms typically). We use a pyramid wavefront sensor. The relatively small actuator pitch (~23 cm/subap) allows moderate Strehls to be obtained in the visible (0.63-1.05 microns). We use a CCD AO science camera called "VisAO". On-sky long exposures (60s) achieve <30mas resolutions, 30% Strehls at 0.62 microns (r') with the VisAO camera in 0.5" seeing with bright R < 8 mag stars. These relatively high visible wavelength Strehls are made possible by our powerful combination of a next generation ASM and a Pyramid WFS with 378 controlled modes and 1000 Hz loop frequency. We'll review the key steps to having good performance in the visible and review the exciting new AO visible science opportunities and refereed publications in both broad-band (r,i,z,Y) and at Halpha for exoplanets, protoplanetary disks, young stars, and emission line jets. These examples highlight the power of visible AO to probe circumstellar regions/spatial resolutions that would otherwise require much larger diameter telescopes with classical infrared AO cameras.

  16. Learning discriminant face descriptor.

    PubMed

    Lei, Zhen; Pietikäinen, Matti; Li, Stan Z

    2014-02-01

    Local feature descriptor is an important module for face recognition and those like Gabor and local binary patterns (LBP) have proven effective face descriptors. Traditionally, the form of such local descriptors is predefined in a handcrafted way. In this paper, we propose a method to learn a discriminant face descriptor (DFD) in a data-driven way. The idea is to learn the most discriminant local features that minimize the difference of the features between images of the same person and maximize that between images from different people. In particular, we propose to enhance the discriminative ability of face representation in three aspects. First, the discriminant image filters are learned. Second, the optimal neighborhood sampling strategy is soft determined. Third, the dominant patterns are statistically constructed. Discriminative learning is incorporated to extract effective and robust features. We further apply the proposed method to the heterogeneous (cross-modality) face recognition problem and learn DFD in a coupled way (coupled DFD or C-DFD) to reduce the gap between features of heterogeneous face images to improve the performance of this challenging problem. Extensive experiments on FERET, CAS-PEAL-R1, LFW, and HFB face databases validate the effectiveness of the proposed DFD learning on both homogeneous and heterogeneous face recognition problems. The DFD improves POEM and LQP by about 4.5 percent on LFW database and the C-DFD enhances the heterogeneous face recognition performance of LBP by over 25 percent. PMID:24356350

  17. Generalization of affective learning about faces to perceptually similar faces.

    PubMed

    Verosky, Sara C; Todorov, Alexander

    2010-06-01

    Different individuals have different (and different-looking) significant others, friends, and foes. The objective of this study was to investigate whether these social face environments can shape individual face preferences. First, participants learned to associate faces with positive, neutral, or negative behaviors. Then, they evaluated morphs combining novel faces with the learned faces. The morphs (65% and 80% novel faces) were within the categorical boundary of the novel faces: They were perceived as those faces in a preliminary study. Moreover, a second preliminary study showed that following the learning, the morphs' categorization as similar to the learned faces was indistinguishable from the categorization of actual novel faces. Nevertheless, in the main experiment, participants evaluated morphs of "positive" faces more positively than morphs of "negative" faces. This learning generalization effect increased as a function of the similarity of the novel faces to the learned faces. The findings suggest that general learning mechanisms based on similarity can account for idiosyncratic face preferences. PMID:20483821

  18. Current challenges in de novo plant genome sequencing and assembly

    PubMed Central

    2012-01-01

    Genome sequencing is now affordable, but assembling plant genomes de novo remains challenging. We assess the state of the art of assembly and review the best practices for the community. PMID:22546054

  19. Genovo: De Novo Assembly for Metagenomes

    NASA Astrophysics Data System (ADS)

    Laserson, Jonathan; Jojic, Vladimir; Koller, Daphne

    Next-generation sequencing technologies produce a large number of noisy reads from the DNA in a sample. Metagenomics and population sequencing aim to recover the genomic sequences of the species in the sample, which could be of high diversity. Methods geared towards single sequence reconstruction are not sensitive enough when applied in this setting. We introduce a generative probabilistic model of read generation from environmental samples and present Genovo, a novel de novo sequence assembler that discovers likely sequence reconstructions under the model. A Chinese restaurant process prior accounts for the unknown number of genomes in the sample. Inference is made by applying a series of hill-climbing steps iteratively until convergence. We compare the performance of Genovo to three other short read assembly programs across one synthetic dataset and eight metagenomic datasets created using the 454 platform, the largest of which has 311k reads. Genovo's reconstructions cover more bases and recover more genes than the other methods, and yield a higher assembly score.

  20. Stable face representations

    PubMed Central

    Jenkins, Rob; Burton, A. Mike

    2011-01-01

    Photographs are often used to establish the identity of an individual or to verify that they are who they claim to be. Yet, recent research shows that it is surprisingly difficult to match a photo to a face. Neither humans nor machines can perform this task reliably. Although human perceivers are good at matching familiar faces, performance with unfamiliar faces is strikingly poor. The situation is no better for automatic face recognition systems. In practical settings, automatic systems have been consistently disappointing. In this review, we suggest that failure to distinguish between familiar and unfamiliar face processing has led to unrealistic expectations about face identification in applied settings. We also argue that a photograph is not necessarily a reliable indicator of facial appearance, and develop our proposal that summary statistics can provide more stable face representations. In particular, we show that image averaging stabilizes facial appearance by diluting aspects of the image that vary between snapshots of the same person. We review evidence that the resulting images can outperform photographs in both behavioural experiments and computer simulations, and outline promising directions for future research. PMID:21536553

  1. Characterization of an AO-OCT system

    SciTech Connect

    Evans, J W; Zawadzki, R J; Jones, S; Olivier, S; Werner, J S

    2007-07-26

    Adaptive optics (AO) and optical coherence tomography (OCT) are powerful imaging modalities that, when combined, can provide high-volumetric-resolution, images of the retina. The AO-OCT system at UC Davis has been under development for 2 years and has demonstrated the utility of this technology for microscopic, volumetric, in vivo retinal imaging [1]. The current system uses an AOptix bimorph deformable mirror (DM) for low-order, high-stroke correction [2] and a 140-actuator Boston Micromachines DM for high-order correction [3]. We are beginning to investigate the potential for increasing the image contrast in this system using higher-order wavefront correction. The first step in this analysis is to quantify the residual wavefront error (WFE) in the current system. Developing an error budget is a common tool for improved performance and system design in astronomical AO systems [4, 5]. The process for vision science systems is also discussed in several texts e.g. [6], but results from this type of analysis have rarely been included in journal articles on AO for vision science. Careful characterization of the AO system will lead to improved performance and inform the design of a future high-contrast system. In general, an AO system error budget must include an analysis of three categories of residual WFE: errors in measuring the phase, errors caused by limitations of the DM(s), and errors introduced by temporal variation. Understanding the mechanisms and relative size of these errors is critical to improving system performance. In this paper we discuss the techniques for characterizing these error sources in the AO-OCT system. It is useful to first calculate an error budget for the simpler case using a model eye, and then add the additional errors introduced for the case of a human subject. Measurement error includes calibration error, wavefront sensor (WFS) CCD noise, and sampling errors. Calibration errors must be measured by an external system. Typically this

  2. The Subaru Coronagraphic Extreme AO Project

    NASA Astrophysics Data System (ADS)

    Martinache, Frantz; Guyon, O.; Lozi, J.; Tamura, M.; Hodapp, K.; Suzuki, R.; Hayano, Y.; McElwain, M. W.

    2009-01-01

    While the existence of large numbers of extrasolar planets around solar type stars has been unambiguously demonstrated by radial velocity, transit and microlensing surveys, attempts at direct imaging with AO-equipped large telescopes remain unsuccessful. Because they supposedly offer more favorable contrast ratios, young systems consitute prime targets for imaging. Such observations will provide key insights on the formation and early evolution of planets and disks. Current surveys are limited by modest AO performance which limits inner working angle to 0.2", and only reach maximum sensitivity outside 1". This translates into orbital distances greater than 10 AU even on most nearby systems, while only 5 % of the known exoplanets have a semimajor axis greater than 10 AU. This calls for a major change of approach in the techniques used for direct imaging of the direct vicinity of stars. A sensible way to do the job is to combine coronagraphy and Extreme AO. Only accurate and fast control of the wavefront will permit the detection of high contrast planetary companions within 10 AU. The SCExAO system, currently under assembly, is an upgrade of the HiCIAO coronagraphic differential imaging camera, mounted behind the 188-actuator curvature AO system on Subaru Telescope. This platform includes a 1000-actuator MEMS deformable mirror for high accuracy wavefront correction and a PIAA coronagraph which delivers high contrast at 0.05" from the star (5 AU at 100 pc). Key technologies have been validated in the laboratory: high performance wavefront sensing schemes, spider vanes and central obstruction removal, and lossless beam apodization. The project is designed to be highly flexible to continuously integrate new technologies with high scientific payoff. Planned upgrades include an integral field unit for spectral characterization of planets/disks and a non-redundant aperture mask to push the performance of the system toward separations less than lambda/D.

  3. Dynamic Face Seal Arrangement

    NASA Technical Reports Server (NTRS)

    Dellacorte, Christopher (Inventor)

    1999-01-01

    A radial face seal arrangement is disclosed comprising a stationary seal ring that is spring loaded against a seal seat affixed to a rotating shaft. The radial face seal arrangement further comprises an arrangement that not only allows for preloading of the stationary seal ring relative to the seal seat, but also provides for dampening yielding a dynamic seating response for the radial face seal arrangement. The overall seal system, especially regarding the selection of the material for the stationary seal ring, is designed to operate over a wide temperature range from below ambient up to 900 C.

  4. Protective Face Mask

    NASA Technical Reports Server (NTRS)

    1981-01-01

    Mask to protect the physically impaired from injuries to the face and head has been developed by Langley Research Center. It is made of composite materials, usually graphite or boron fibers woven into a matrix. Weighs less than three ounces.

  5. Future Faces of Physics

    NASA Astrophysics Data System (ADS)

    Sauncy, Toni

    2008-10-01

    In keeping with its commitment to help students transform themselves into contributing members of the professional physics community, the Society of Physics Students National Council began efforts aimed at addressing issued of diversity in physics several years ago. One of the projects stemming from these discussions is the adoption of a 2008 theme ``The Future Faces of Physics.'' With this theme, the council aims to raise visibility and focus on issues of student diversity in physics. The initiative included the distribution of ``Future Faces of Physics Kits'' to any chapter hosting zone meetings. A highlight of the kit is the Future Faces of Physics Jeopardy set, which consists of buzzers, a score board, instructions, and a game board. The Future Faces of Physics game is a vehicle for generating discussion and raising awareness. The diversity session is hosted by the SPS Zone 13 and Zone 16 leadership.

  6. Recognizing one's own face.

    PubMed

    Kircher, T T; Senior, C; Phillips, M L; Rabe-Hesketh, S; Benson, P J; Bullmore, E T; Brammer, M; Simmons, A; Bartels, M; David, A S

    2001-01-01

    We report two studies of facial self-perception using individually tailored, standardized facial photographs of a group of volunteers and their partners. A computerized morphing procedure was used to merge each target face with an unknown control face. In the first set of experiments, a discrimination task revealed a delayed response time for the more extensively morphed self-face stimuli. In a second set of experiments, functional magnetic resonance imaging (fMRI) was used to measure brain activation while subjects viewed morphed versions of either their own or their partner's face, alternating in blocks with presentation of an unknown face. When subjects viewed themselves (minus activation for viewing an unknown face), increased blood oxygenation was detected in right limbic (hippocampal formation, insula, anterior cingulate), left prefrontal cortex and superior temporal cortex. In the partner (versus unknown) experiment, only the right insula was activated. We suggest that a neural network involving the right hemisphere in conjunction with left-sided associative and executive regions underlies the process of visual self-recognition. Together, this combination produces the unique experience of self-awareness. PMID:11062324

  7. Is Face Distinctiveness Gender Based?

    ERIC Educational Resources Information Center

    Baudouin, Jean-Yves; Gallay, Mathieu

    2006-01-01

    Two experiments were carried out to study the role of gender category in evaluations of face distinctiveness. In Experiment 1, participants had to evaluate the distinctiveness and the femininity-masculinity of real or artificial composite faces. The composite faces were created by blending either faces of the same gender (sexed composite faces,…

  8. Experimental comparison of Wide Field AO control schemes using the Homer AO bench.

    NASA Astrophysics Data System (ADS)

    Parisot, Amélie; Petit, Cyril; Fusco, Thierry

    2011-09-01

    Wide Field Adaptive Optics (WFAO) concepts, such as Laser Tomography AO (LTAO) or Multi-Conjugate AO (MCAO) have been developed in order to overcome the anisoplanatism limit of classical AO. Most of the future AO-assisted instruments of ELTs rely on such concepts which have raised critical challenges such as tomographic estimation and from laser and natural guide star combined with efficient DM(s) control. In that context, the experimental validation of the various clever control solutions proposed by several teams in the past years is now essential to reach a level of maturity compatible with their implementation in future WFAO developments for ELT. The ONERA wide field AO facility (HOMER bench) has been developed for these very issues. Gathering a 3D turbulence generator, laser and natural guide stars, two deformable mirrors with variable altitude positions and a PC-based flexible and user-friendly RTC , HOMER allows the implementation and comparison of control schemes from the simplest least-square to the optimal Linear Quadratic Gaussian solutions including Virtual DM and Pseudo-closed loop approaches. After a description of the bench internal calibrations and ultimate performance, all the control schemes are compared experimentally. Their evolutions as a function of wavefront sensors SNR as well as their robustness to calibration / model errors are particularly emphasised. Finally, we derive from the previous works some specific calibrations and identifications procedures ensuring both robustness and efficiency of WFAO systems and we extrapolate their applications to the future ELT AO systems.

  9. Successful Decoding of Famous Faces in the Fusiform Face Area

    PubMed Central

    Axelrod, Vadim; Yovel, Galit

    2015-01-01

    What are the neural mechanisms of face recognition? It is believed that the network of face-selective areas, which spans the occipital, temporal, and frontal cortices, is important in face recognition. A number of previous studies indeed reported that face identity could be discriminated based on patterns of multivoxel activity in the fusiform face area and the anterior temporal lobe. However, given the difficulty in localizing the face-selective area in the anterior temporal lobe, its role in face recognition is still unknown. Furthermore, previous studies limited their analysis to occipito-temporal regions without testing identity decoding in more anterior face-selective regions, such as the amygdala and prefrontal cortex. In the current high-resolution functional Magnetic Resonance Imaging study, we systematically examined the decoding of the identity of famous faces in the temporo-frontal network of face-selective and adjacent non-face-selective regions. A special focus has been put on the face-area in the anterior temporal lobe, which was reliably localized using an optimized scanning protocol. We found that face-identity could be discriminated above chance level only in the fusiform face area. Our results corroborate the role of the fusiform face area in face recognition. Future studies are needed to further explore the role of the more recently discovered anterior face-selective areas in face recognition. PMID:25714434

  10. Novor: Real-Time Peptide de Novo Sequencing Software

    NASA Astrophysics Data System (ADS)

    Ma, Bin

    2015-11-01

    De novo sequencing software has been widely used in proteomics to sequence new peptides from tandem mass spectrometry data. This study presents a new software tool, Novor, to greatly improve both the speed and accuracy of today's peptide de novo sequencing analyses. To improve the accuracy, Novor's scoring functions are based on two large decision trees built from a peptide spectral library with more than 300,000 spectra with machine learning. Important knowledge about peptide fragmentation is extracted automatically from the library and incorporated into the scoring functions. The decision tree model also enables efficient score calculation and contributes to the speed improvement. To further improve the speed, a two-stage algorithmic approach, namely dynamic programming and refinement, is used. The software program was also carefully optimized. On the testing datasets, Novor sequenced 7%-37% more correct residues than the state-of-the-art de novo sequencing tool, PEAKS, while being an order of magnitude faster. Novor can de novo sequence more than 300 MS/MS spectra per second on a laptop computer. The speed surpasses the acquisition speed of today's mass spectrometer and, therefore, opens a new possibility to de novo sequence in real time while the spectrometer is acquiring the spectral data.

  11. De novo variants in sporadic cases of childhood onset schizophrenia.

    PubMed

    Ambalavanan, Amirthagowri; Girard, Simon L; Ahn, Kwangmi; Zhou, Sirui; Dionne-Laporte, Alexandre; Spiegelman, Dan; Bourassa, Cynthia V; Gauthier, Julie; Hamdan, Fadi F; Xiong, Lan; Dion, Patrick A; Joober, Ridha; Rapoport, Judith; Rouleau, Guy A

    2016-06-01

    Childhood-onset schizophrenia (COS), defined by the onset of illness before age 13 years, is a rare severe neurodevelopmental disorder of unknown etiology. Recently, sequencing studies have identified rare, potentially causative de novo variants in sporadic cases of adult-onset schizophrenia and autism. In this study, we performed exome sequencing of 17 COS trios in order to test whether de novo variants could contribute to this disease. We identified 20 de novo variants in 17 COS probands, which is consistent with the de novo mutation rate reported in the adult form of the disease. Interestingly, the missense de novo variants in COS have a high likelihood for pathogenicity and were enriched for genes that are less tolerant to variants. Among the genes found disrupted in our study, SEZ6, RYR2, GPR153, GTF2IRD1, TTBK1 and ITGA6 have been previously linked to neuronal function or to psychiatric disorders, and thus may be considered as COS candidate genes. PMID:26508570

  12. Attention to Faces Modulates Early Face Processing during Low but not High Face Discriminability

    PubMed Central

    Sreenivasan, Kartik K.; Goldstein, Jonathan M.; Lustig, Audrey G.; Rivas, Luis R.; Jha, Amishi P.

    2010-01-01

    In the present study, we investigated if attention to faces results in sensory gain modulation. Participants were cued to attend to faces or scenes in superimposed face-scene images while face discriminability was parametrically manipulated across images. The face-sensitive N170 event-related potential component was used as a measure of early face processing. Attention to faces modulated N170 amplitude, but only when faces were not highly discriminable. Additionally, directing attention to faces modulated later processing (~230–300 msec) for all discriminability levels. These results demonstrate that attention to faces can modulate perceptual processing of faces at multiple stages of processing, including early sensory levels. Critically, the early attentional benefit is present only when the “face signal” (i.e., the perceptual quality of the face) in the environment is suboptimal. PMID:19429962

  13. MEMS DM development at Iris AO, Inc.

    NASA Astrophysics Data System (ADS)

    Helmbrecht, Michael A.; He, Min; Kempf, Carl J.; Besse, Marc

    2011-03-01

    Iris AO is actively developing piston-tip-tilt (PTT) segmented MEMS deformable mirrors (DM) and adaptive optics (AO) controllers for these DMs. This paper discusses ongoing research at Iris AO that has advanced the state-of-the-art of these devices and systems over the past year. Improvements made to open-loop operation and mirror fabrication enables mirrors to open-loop flatten to 4 nm rms. Additional testing of an anti snap-in technology was conducted and demonstrates that the technology can withstand 100 million snap-in events without failure. Deformable mirrors with dielectric coatings are shown that are capable of handling 630 W/cm2 of incident laser power. Over a localized region on the segment, the dielectric coatings can withstand 100kW/cm2 incident laser power for 30 minutes. Results from the first-ever batch of PTT489 DMs that were shipped to pilot customers are reported. Optimizations made to the open-loop PTT controller are shown to have latencies of 157.5 μs and synchronous array update rates of nearly 6.5 kHz. Finally, plans for the design and fabrication of the next-generation PTT939 DM are presented.

  14. How Well Do Computer-Generated Faces Tap Face Expertise?

    PubMed Central

    Crookes, Kate; Ewing, Louise; Gildenhuys, Ju-dith; Kloth, Nadine; Hayward, William G.; Oxner, Matt; Pond, Stephen; Rhodes, Gillian

    2015-01-01

    The use of computer-generated (CG) stimuli in face processing research is proliferating due to the ease with which faces can be generated, standardised and manipulated. However there has been surprisingly little research into whether CG faces are processed in the same way as photographs of real faces. The present study assessed how well CG faces tap face identity expertise by investigating whether two indicators of face expertise are reduced for CG faces when compared to face photographs. These indicators were accuracy for identification of own-race faces and the other-race effect (ORE)–the well-established finding that own-race faces are recognised more accurately than other-race faces. In Experiment 1 Caucasian and Asian participants completed a recognition memory task for own- and other-race real and CG faces. Overall accuracy for own-race faces was dramatically reduced for CG compared to real faces and the ORE was significantly and substantially attenuated for CG faces. Experiment 2 investigated perceptual discrimination for own- and other-race real and CG faces with Caucasian and Asian participants. Here again, accuracy for own-race faces was significantly reduced for CG compared to real faces. However the ORE was not affected by format. Together these results signal that CG faces of the type tested here do not fully tap face expertise. Technological advancement may, in the future, produce CG faces that are equivalent to real photographs. Until then caution is advised when interpreting results obtained using CG faces. PMID:26535910

  15. Into the Blue: AO Science in the Visible with MagAO

    NASA Astrophysics Data System (ADS)

    Close, Laird; Males, Jared; Morzinski, Katie; Kopon, Derek; Follette, Kate; Rodigas, Timothy; Hinz, Philip; Wu, Ya-Lin; Puglisi, Alfio; Esposito, Simone; Riccardi, Armando; Pinna, Enrico; Xompero, Marco; Briguglio, Runa; Uomoto, Alan; Hare, Tison

    2013-12-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in Chile at Las Campanas Observatory. We have fabricated an 85 cm diameter aspheric adaptive secondary with our subcontractors and partners, MagAO passed acceptance tests in spring 2012, and the entire System was commissioned from Nov 17 to Dec 7, 2012. This secondary has 585 actuators with < 1 msec response times (0.7 ms typically). We fabricated a high order (585 mode) pyramid wavefront sensor (similar to that of LBT's FLAO). The relatively high actuator count allows moderate Strehls to be obtained in the visible (0.63-1.05 microns). We have built an CCD science camera called "jVisAO". On-sky long exposures (60s) achieve 30% Strehls at 0.62 microns (r') with the VisAO camera in 0.5" seeing with bright R < 8 mag stars. These relatively high optical wavelength Strehls are made possible by our powerful combination of a next generation ASM and a Pyramid WFS with 200-400 controlled modes and 1000 Hz loop frequencies. To minimize non-common path errors and enable visible AO the VisAO science camera is fed by an advanced triplet ADC and is piggy-backed on the WFS optical board itself. Despite the ability to make 25 mas images we still have ~4 mas of resolution loss to residual vibrations. We will discuss what the most difficult aspects are for visible AO on ELTs scaling from our experience with MagAO.

  16. Double face sealing device

    NASA Technical Reports Server (NTRS)

    Weddendorf, Bruce C. (Inventor)

    1991-01-01

    A double face sealing device for mounting between two surfaces to provide an airtight and fluid-tight seal between a closure member bearing one of the surfaces and a structure or housing bearing the other surface which extends around the opening or hatchway to be closed. The double face sealing device includes a plurality of sections or segments mounted to one of the surfaces, each having a main body portion, a pair of outwardly extending and diverging, cantilever, spring arms, and a pair of inwardly extending and diverging, cantilever, spring arms, an elastomeric cover on the distal, free, ends of the outwardly extending and diverging spring arms, and an elastomeric cover on the distal, free, ends of the inwardly extending and diverging spring arms. The double face sealing device has application or use in all environments requiring a seal, but is particularly useful to seal openings or hatchways between compartments of spacecraft or aircraft.

  17. A model of random sequences for de novo peptide sequencing

    SciTech Connect

    Jarman, Kenneth D.; Cannon, William R.; Jarman, Kristin H.; Heredia-Langner, Alejandro

    2003-04-15

    We present a model for the probability of random sequences appearing in product ion spectra obtained from tandem mass spectrometry experiments using collision-induced dissociation. We demonstrate the use of these probabilities for ranking candidate peptide sequences obtained using a de novo algorithm. Sequence candidates are obtained from a spectrum graph that is greatly reduced in size from those in previous graph-theoretical de novo approaches. Evidence of multiple instances of subsequences of each candidate, due to different fragment ion type series as well as isotopic peaks, is incorporated in a hierarchical scoring scheme. This approach is shown to be useful for confirming results from database search and as a first step towards a statistically rigorous de novo algorithm.

  18. Complete De Novo Assembly of Monoclonal Antibody Sequences.

    PubMed

    Tran, Ngoc Hieu; Rahman, M Ziaur; He, Lin; Xin, Lei; Shan, Baozhen; Li, Ming

    2016-01-01

    De novo protein sequencing is one of the key problems in mass spectrometry-based proteomics, especially for novel proteins such as monoclonal antibodies for which genome information is often limited or not available. However, due to limitations in peptides fragmentation and coverage, as well as ambiguities in spectra interpretation, complete de novo assembly of unknown protein sequences still remains challenging. To address this problem, we propose an integrated system, ALPS, which for the first time can automatically assemble full-length monoclonal antibody sequences. Our system integrates de novo sequencing peptides, their quality scores and error-correction information from databases into a weighted de Bruijn graph to assemble protein sequences. We evaluated ALPS performance on two antibody data sets, each including a heavy chain and a light chain. The results show that ALPS was able to assemble three complete monoclonal antibody sequences of length 216-441 AA, at 100% coverage, and 96.64-100% accuracy. PMID:27562653

  19. Complete De Novo Assembly of Monoclonal Antibody Sequences

    PubMed Central

    Tran, Ngoc Hieu; Rahman, M. Ziaur; He, Lin; Xin, Lei; Shan, Baozhen; Li, Ming

    2016-01-01

    De novo protein sequencing is one of the key problems in mass spectrometry-based proteomics, especially for novel proteins such as monoclonal antibodies for which genome information is often limited or not available. However, due to limitations in peptides fragmentation and coverage, as well as ambiguities in spectra interpretation, complete de novo assembly of unknown protein sequences still remains challenging. To address this problem, we propose an integrated system, ALPS, which for the first time can automatically assemble full-length monoclonal antibody sequences. Our system integrates de novo sequencing peptides, their quality scores and error-correction information from databases into a weighted de Bruijn graph to assemble protein sequences. We evaluated ALPS performance on two antibody data sets, each including a heavy chain and a light chain. The results show that ALPS was able to assemble three complete monoclonal antibody sequences of length 216–441 AA, at 100% coverage, and 96.64–100% accuracy. PMID:27562653

  20. Installing hydrolytic activity into a completely de novo protein framework.

    PubMed

    Burton, Antony J; Thomson, Andrew R; Dawson, William M; Brady, R Leo; Woolfson, Derek N

    2016-09-01

    The design of enzyme-like catalysts tests our understanding of sequence-to-structure/function relationships in proteins. Here we install hydrolytic activity predictably into a completely de novo and thermostable α-helical barrel, which comprises seven helices arranged around an accessible channel. We show that the lumen of the barrel accepts 21 mutations to functional polar residues. The resulting variant, which has cysteine-histidine-glutamic acid triads on each helix, hydrolyses p-nitrophenyl acetate with catalytic efficiencies that match the most-efficient redesigned hydrolases based on natural protein scaffolds. This is the first report of a functional catalytic triad engineered into a de novo protein framework. The flexibility of our system also allows the facile incorporation of unnatural side chains to improve activity and probe the catalytic mechanism. Such a predictable and robust construction of truly de novo biocatalysts holds promise for applications in chemical and biochemical synthesis. PMID:27554410

  1. Genetic variation and the de novo assembly of human genomes

    PubMed Central

    Chaisson, Mark J. P.; Wilson, Richard K.; Eichler, Evan E.

    2016-01-01

    The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quality genome assemblies or resolve most structural variation. Full resolution of variation is only guaranteed by complete de novo assembly of a genome. Here, we review approaches to genome assembly, the nature of gaps or missing sequences, and biases in the assembly process. We describe the challenges of generating a complete de novo genome assembly using current technologies and the impact that being able to perfectly sequence the genome would have on understanding human disease and evolution. Finally, we summarize recent technological advances that improve both contiguity and accuracy and emphasize the importance of complete de novo assembly as opposed to read mapping as the primary means to understanding the full range of human genetic variation. PMID:26442640

  2. Voicing on Virtual and Face to Face Discussion

    ERIC Educational Resources Information Center

    Yamat, Hamidah

    2013-01-01

    This paper presents and discusses findings of a study conducted on pre-service teachers' experiences in virtual and face to face discussions. Technology has brought learning nowadays beyond the classroom context or time zone. The learning context and process no longer rely solely on face to face communications in the presence of a teacher.…

  3. Bayesian Face Recognition and Perceptual Narrowing in Face-Space

    ERIC Educational Resources Information Center

    Balas, Benjamin

    2012-01-01

    During the first year of life, infants' face recognition abilities are subject to "perceptual narrowing", the end result of which is that observers lose the ability to distinguish previously discriminable faces (e.g. other-race faces) from one another. Perceptual narrowing has been reported for faces of different species and different races, in…

  4. Neural synchronization during face-to-face communication.

    PubMed

    Jiang, Jing; Dai, Bohan; Peng, Danling; Zhu, Chaozhe; Liu, Li; Lu, Chunming

    2012-11-01

    Although the human brain may have evolutionarily adapted to face-to-face communication, other modes of communication, e.g., telephone and e-mail, increasingly dominate our modern daily life. This study examined the neural difference between face-to-face communication and other types of communication by simultaneously measuring two brains using a hyperscanning approach. The results showed a significant increase in the neural synchronization in the left inferior frontal cortex during a face-to-face dialog between partners but none during a back-to-back dialog, a face-to-face monologue, or a back-to-back monologue. Moreover, the neural synchronization between partners during the face-to-face dialog resulted primarily from the direct interactions between the partners, including multimodal sensory information integration and turn-taking behavior. The communicating behavior during the face-to-face dialog could be predicted accurately based on the neural synchronization level. These results suggest that face-to-face communication, particularly dialog, has special neural features that other types of communication do not have and that the neural synchronization between partners may underlie successful face-to-face communication. PMID:23136442

  5. Pedagogical Characteristics of Online and Face-to-Face Classes

    ERIC Educational Resources Information Center

    Wuensch, Karl; Aziz, Shahnaz; Ozan, Erol; Kishore, Masao; Tabrizi, M. H. Nassehzadeh

    2008-01-01

    Currently, many students have had experience with both face-to-face and online classes. We asked such students at 46 different universities in the United States to evaluate the pedagogical characteristics of their most recently completed face-to-face class and their most recently completed online class. The results show that students rate online…

  6. De Novo Fragment Design for Drug Discovery and Chemical Biology.

    PubMed

    Rodrigues, Tiago; Reker, Daniel; Welin, Martin; Caldera, Michael; Brunner, Cyrill; Gabernet, Gisela; Schneider, Petra; Walse, Björn; Schneider, Gisbert

    2015-12-01

    Automated molecular de novo design led to the discovery of an innovative inhibitor of death-associated protein kinase 3 (DAPK3). An unprecedented crystal structure of the inactive DAPK3 homodimer shows the fragment-like hit bound to the ATP pocket. Target prediction software based on machine learning models correctly identified additional macromolecular targets of the computationally designed compound and the structurally related marketed drug azosemide. The study validates computational de novo design as a prime method for generating chemical probes and starting points for drug discovery. PMID:26486226

  7. Airline Maintenance Manpower Optimization from the De Novo Perspective

    NASA Astrophysics Data System (ADS)

    Liou, James J. H.; Tzeng, Gwo-Hshiung

    Human resource management (HRM) is an important issue for today’s competitive airline marketing. In this paper, we discuss a multi-objective model designed from the De Novo perspective to help airlines optimize their maintenance manpower portfolio. The effectiveness of the model and solution algorithm is demonstrated in an empirical study of the optimization of the human resources needed for airline line maintenance. Both De Novo and traditional multiple objective programming (MOP) methods are analyzed. A comparison of the results with those of traditional MOP indicates that the proposed model and solution algorithm does provide better performance and an improved human resource portfolio.

  8. Neural correlates of face detection.

    PubMed

    Xu, Xiaokun; Biederman, Irving

    2014-06-01

    Although face detection likely played an essential adaptive role in our evolutionary past and in contemporary social interactions, there have been few rigorous studies investigating its neural correlates. MJH, a prosopagnosic with bilateral lesions to the ventral temporal-occipital cortices encompassing the posterior face areas (fusiform and occipital face areas), expresses no subjective difficulty in face detection, suggesting that these posterior face areas do not mediate face detection exclusively. Despite his normal contrast sensitivity and visual acuity in foveal vision, the present study nevertheless revealed significant face detection deficits in MJH. Compared with controls, MJH showed a lower tolerance to noise in the phase spectrum for faces (vs. cars), reflected in his higher detection threshold for faces. MJH's lesions in bilateral occipito-temporal cortices thus appear to have produced a deficit not only in face individuation, but also in face detection. PMID:23365211

  9. The first VisAO-fed integral field spectrograph: VisAO IFS

    NASA Astrophysics Data System (ADS)

    Follette, Katherine B.; Close, Laird M.; Kopon, Derek; Males, Jared R.; Gasho, Victor; Brutlag, Kevin M.; Uomoto, Alan

    2010-07-01

    We present the optomechanical design of the Magellan VisAO Integral Field Spectrograph (VisAO IFS), designed to take advantage of Magellan's AO system and its 85.1cm concave ellipsoidal Adaptive Secondary Mirror (ASM). With 585 actuators and an equal number of actively-controlled modes, this revolutionary second generation ASM will be the first to achieve moderate Strehl ratios into the visible wavelength regime. We have designed the VisAO IFS to be coupled to either Magellan's LDSS-3 spectrograph or to the planned facility M2FS fiber spectrograph and to optimize VisAO science. Designed for narrow field-of-view, high spatial resolution science, this lenslet-coupled fiberfed IFS will offer exciting opportunities for scientific advancement in a variety of fields, including protoplanetary disk morphology and chemistry, resolution and spectral classification of tight astrometric binaries, seasonal changes in the upper atmosphere of Titan, and a better understanding of the black hole M-sigma relation.

  10. Pose estimation and frontal face detection for face recognition

    NASA Astrophysics Data System (ADS)

    Lim, Eng Thiam; Wang, Jiangang; Xie, Wei; Ronda, Venkarteswarlu

    2005-05-01

    This paper proposes a pose estimation and frontal face detection algorithm for face recognition. Considering it's application in a real-world environment, the algorithm has to be robust yet computationally efficient. The main contribution of this paper is the efficient face localization, scale and pose estimation using color models. Simulation results showed very low computational load when compare to other face detection algorithm. The second contribution is the introduction of low dimensional statistical face geometrical model. Compared to other statistical face model the proposed method models the face geometry efficiently. The algorithm is demonstrated on a real-time system. The simulation results indicate that the proposed algorithm is computationally efficient.

  11. Finding faces among faces: human faces are located more quickly and accurately than other primate and mammal faces.

    PubMed

    Simpson, Elizabeth A; Buchin, Zachary; Werner, Katie; Worrell, Rey; Jakobsen, Krisztina V

    2014-11-01

    We tested the specificity of human face search efficiency by examining whether there is a broad window of detection for various face-like stimuli-human and animal faces-or whether own-species faces receive greater attentional allocation. We assessed the strength of the own-species face detection bias by testing whether human faces are located more efficiently than other animal faces, when presented among various other species' faces, in heterogeneous 16-, 36-, and 64-item arrays. Across all array sizes, we found that, controlling for distractor type, human faces were located faster and more accurately than primate and mammal faces, and that, controlling for target type, searches were faster when distractors were human faces compared to animal faces, revealing more efficient processing of human faces regardless of their role as targets or distractors (Experiment 1). Critically, these effects remained when searches were for specific species' faces (human, chimpanzee, otter), ruling out a category-level explanation (Experiment 2). Together, these results suggest that human faces may be processed more efficiently than animal faces, both when task-relevant (targets) and task-irrelevant (distractors), even in direct competition with other faces. These results suggest that there is not a broad window of detection for all face-like patterns but that human adults process own-species' faces more efficiently than other species' faces. Such own-species search efficiencies may arise through experience with own-species faces throughout development or may be privileged early in development, due to the evolutionary importance of conspecifics' faces. PMID:25113852

  12. Face recognition system and method using face pattern words and face pattern bytes

    SciTech Connect

    Zheng, Yufeng

    2014-12-23

    The present invention provides a novel system and method for identifying individuals and for face recognition utilizing facial features for face identification. The system and method of the invention comprise creating facial features or face patterns called face pattern words and face pattern bytes for face identification. The invention also provides for pattern recognitions for identification other than face recognition. The invention further provides a means for identifying individuals based on visible and/or thermal images of those individuals by utilizing computer software implemented by instructions on a computer or computer system and a computer readable medium containing instructions on a computer system for face recognition and identification.

  13. Problems Facing Rural Schools.

    ERIC Educational Resources Information Center

    Stewart, C. E.; And Others

    Problems facing rural Scottish schools range from short term consideration of daily operation to long term consideration of organizational alternatives. Addressed specifically, such problems include consideration of: (1) liaison between a secondary school and its feeder primary schools; (2) preservice teacher training for work in small, isolated…

  14. Restoration of face images

    NASA Astrophysics Data System (ADS)

    Srinivasan, Aparna

    2012-01-01

    Restoration techniques are applied to degraded face samples. The techniques considered are those of Wiener Filtering, Lucy Richardson deconvolution, Blind deconvolution and Constrained least squares filtering (CLSF). Images degraded by low blur, high blur and low blur with noise are experimented with and the results are expounded.

  15. Restoration of face images

    NASA Astrophysics Data System (ADS)

    Srinivasan, Aparna

    2011-12-01

    Restoration techniques are applied to degraded face samples. The techniques considered are those of Wiener Filtering, Lucy Richardson deconvolution, Blind deconvolution and Constrained least squares filtering (CLSF). Images degraded by low blur, high blur and low blur with noise are experimented with and the results are expounded.

  16. Challenges Facing Special Education.

    ERIC Educational Resources Information Center

    Meyen, Edward L., Ed.; And Others

    This book presents 17 selected papers from recent issues of the journal, "Focus on Exceptional Children," concerning current and emerging challenges facing the field of special education. The book is organized in two parts. Part 1, "Contemporary Challenges," includes the following articles: "Transitions in Early Childhood Special Education: Issues…

  17. Workforce Issues Facing HRD.

    ERIC Educational Resources Information Center

    1999

    This document contains four symposium papers on work force issues facing human resource development (HRD). "Contributing Factors to the Success of Women and People of Color in Leadership Roles: A Message to HRD Professionals" (Jean R. McFarland, Gary Leske, Caroline S. V. Turner) reports the results of a survey in which nonwhite males, nonwhite…

  18. Lightweight Face Mask

    NASA Technical Reports Server (NTRS)

    Cason, W. E. I.; Baucom, R. M.; Evans, R. C.

    1982-01-01

    Lightweight face mask originally developed to protect epileptic patients during seizures could have many other medical and nonmedical applications such as muscular distrophy patients, football linesmen and riot-control police. Masks are extremely lightweight, the lightest of the configurations weighing only 136 grams.

  19. A Wall of Faces

    ERIC Educational Resources Information Center

    Stevens, Lori

    2008-01-01

    Visitors to the campus of Orland High School (OHS) will never question that they have stepped into a world of the masses: kids, activity, personalities, busyness, and playfulness--a veritable cloud of mild bedlam. The wall of ceramic faces that greets a visitor in the school office is another reminder of the organized chaos that the teachers…

  20. Workforce Issues Facing HRD.

    ERIC Educational Resources Information Center

    1995

    These four papers are from a symposium facilitated by Eugene Andette on work force issues facing human resources development (HRD) at the 1995 Academy of Human Resource Development conference. "Meaning Construction and Personal Transformation: Alternative Dimensions of Job Loss" (Terri A. Deems) reports a study conducted to explore the ways…

  1. TACOMA FACES SCHOOL SEGREGATION.

    ERIC Educational Resources Information Center

    HALEY, FRED T.

    THE CHAIRMAN OF THE TACOMA, WASHINGTON, BOARD OF EDUCATION PRESENTS HIS VIEWS ON THE PROBLEMS TO BE FACED BY THE CITY OF TACOMA IN THE AREA OF DE FACTO SEGREGATION. TACOMA'S POPULATION FROM 1950 TO 1960 INCREASED 3 PERCENT. VIRTUALLY THE ENTIRE INCREASE WAS NONWHITE. IT IS HELD THAT THE MAGNITUDE OF THE EXPLOSIVE GROWTH OF THE NEGRO POPULATION IS…

  2. Many Faces Have I.

    ERIC Educational Resources Information Center

    Zilliox, Joseph T.; Lowery, Shannon G.

    1997-01-01

    Describes an extended investigation of polygons and polyhedra which was conducted in response to a challenge posed in Focus, a newsletter from the Mathematical Association of America (MAA). Students were challenged to construct a polyhedron with faces that measure more than 13 inches to a side. Outlines the process, including the questions posed…

  3. Facing the Not Knowing

    ERIC Educational Resources Information Center

    Tennant, Roy

    2007-01-01

    In this article, the author talks about how to face the not knowing and offers a strategy to fill the gap of not knowing. In coping with constant change, he describes a strategy for library staff that might help in the absence of certainty. This includes: (a) guarding the data with one's life; (b) build not for longevity, but obsolescence; (c)…

  4. The Caledonian face test: A new test of face discrimination.

    PubMed

    Logan, Andrew J; Wilkinson, Frances; Wilson, Hugh R; Gordon, Gael E; Loffler, Gunter

    2016-02-01

    This study aimed to develop a clinical test of face perception which is applicable to a wide range of patients and can capture normal variability. The Caledonian face test utilises synthetic faces which combine simplicity with sufficient realism to permit individual identification. Face discrimination thresholds (i.e. minimum difference between faces required for accurate discrimination) were determined in an "odd-one-out" task. The difference between faces was controlled by an adaptive QUEST procedure. A broad range of face discrimination sensitivity was determined from a group (N=52) of young adults (mean 5.75%; SD 1.18; range 3.33-8.84%). The test is fast (3-4min), repeatable (test-re-test r(2)=0.795) and demonstrates a significant inversion effect. The potential to identify impairments of face discrimination was evaluated by testing LM who reported a lifelong difficulty with face perception. While LM's impairment for two established face tests was close to the criterion for significance (Z-scores of -2.20 and -2.27) for the Caledonian face test, her Z-score was -7.26, implying a more than threefold higher sensitivity. The new face test provides a quantifiable and repeatable assessment of face discrimination ability. The enhanced sensitivity suggests that the Caledonian face test may be capable of detecting more subtle impairments of face perception than available tests. PMID:26607479

  5. Ruled and holographic experiment (AO 138-5)

    NASA Technical Reports Server (NTRS)

    Bonnemason, Francis

    1993-01-01

    The AO 138-5 experiment was designed, via the FRECOPA (FRench COoperative PAyload) experiment with the aim to study the optical behavior of different diffraction gratings submitted to space vacuum long exposure and solar irradiation. Samples were ruled and holographic gratings, masters or replica, and some additional control mirrors with various coatings. The experiment was located on the B3, trailing edge of the LDEF and was protected against Atomic Oxygen flux. The experienced thermal cycling was evaluated from -23 C to 66 C during the flight, 34,000 orbits. The samples (two batches of four pieces) were located on a dedicated plate, by a pair of equivalent gratings or mirrors; optical faces were located on the external side. The plate was inside a canister, which had been opened in space for ten months. When the satellite returned to Kennedy Space Center, the remaining vacuum in the canister was still correct. The analysis focused on the triple point characterization including light efficiency, wavefront flatness quality and stray light level. Tests were conducted on control mirrors and gratings (rules and holographic master or replica) loaded but not exposed to cosmic dust or direct solar irradiations. They did not show any significant variations. Solar exposure had damaged the coating (aluminum and platinum) reflectivity in the Ultra-Violet region; the degradation is higher with the gratings, in terms of efficiency. However, wavefront flatness quality and stray light level tests revealed no additional changes.

  6. Ruled and holographic experiment (AO 138-5)

    NASA Astrophysics Data System (ADS)

    Bonnemason, Francis

    1993-04-01

    The AO 138-5 experiment was designed, via the FRECOPA (FRench COoperative PAyload) experiment with the aim to study the optical behavior of different diffraction gratings submitted to space vacuum long exposure and solar irradiation. Samples were ruled and holographic gratings, masters or replica, and some additional control mirrors with various coatings. The experiment was located on the B3, trailing edge of the LDEF and was protected against Atomic Oxygen flux. The experienced thermal cycling was evaluated from -23 C to 66 C during the flight, 34,000 orbits. The samples (two batches of four pieces) were located on a dedicated plate, by a pair of equivalent gratings or mirrors; optical faces were located on the external side. The plate was inside a canister, which had been opened in space for ten months. When the satellite returned to Kennedy Space Center, the remaining vacuum in the canister was still correct. The analysis focused on the triple point characterization including light efficiency, wavefront flatness quality and stray light level. Tests were conducted on control mirrors and gratings (rules and holographic master or replica) loaded but not exposed to cosmic dust or direct solar irradiations. They did not show any significant variations. Solar exposure had damaged the coating (aluminum and platinum) reflectivity in the Ultra-Violet region; the degradation is higher with the gratings, in terms of efficiency. However, wavefront flatness quality and stray light level tests revealed no additional changes.

  7. Measurement of de novo lipogenesis in humans during lactation

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Milk fat is composed of 98% triglycerides (TG) and provides infants with approximately 50% of their calories. Mammary gland de novo lipogenesis contributes significantly to milk fat in animals. However, there are no data regarding this process in humans. Incorporation of 13C carbons from [U-13C]gluc...

  8. De novo synthesis of milk triglycerides in humans

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mammary gland (MG) de novo lipogenesis contributes significantly to milk fat in animals but little is known in humans. Objective: To test the hypothesis that the incorporation of 13C carbons from [U-13C]glucose into fatty acids (FA) and glycerol in triglycerides (TG) will be greater: 1) in milk tha...

  9. De novo transcriptome of the hemimetabolous German cockroach (Blattella germanica)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A total of 1,365,609 raw reads with an average length of 529 bp, which were de novo assembled into 48,800 contigs and 3,961 singletons for a total of 52,761 high-quality unique sequences are generated. These sequences are annotated in terms of GO and KEGG, and the results reveal putative genes of va...

  10. A Public Trial De Novo: Rethinking "Industrial Interests"

    ERIC Educational Resources Information Center

    Vedel, Jane Bjorn; Gad, Christopher

    2011-01-01

    This article addresses the concept of "industrial interests" and examines its role in a topical controversy about a large research grant from a private foundation, the Novo Nordisk Foundation, to the University of Copenhagen. The authors suggest that the debate took the form of a "public trial" where the grant and close(r) intermingling between…

  11. DE NOVO DESIGN OF LIGANDS FOR METAL SEPARATION

    EPA Science Inventory

    This application focuses on the development of appropriate computation tools and parameters for the de novo design of selective metal ligands. We have developed a successful suite of tools for computer-aided design of ligands for receptors of known three-dimensional structure (st...

  12. Direct Visualization of De novo Lipogenesis in Single Living Cells

    NASA Astrophysics Data System (ADS)

    Li, Junjie; Cheng, Ji-Xin

    2014-10-01

    Increased de novo lipogenesis is being increasingly recognized as a hallmark of cancer. Despite recent advances in fluorescence microscopy, autoradiography and mass spectrometry, direct observation of de novo lipogenesis in living systems remains to be challenging. Here, by coupling stimulated Raman scattering (SRS) microscopy with isotope labeled glucose, we were able to trace the dynamic metabolism of glucose in single living cells with high spatial-temporal resolution. As the first direct visualization, we observed that glucose was largely utilized for lipid synthesis in pancreatic cancer cells, which occurs at a much lower rate in immortalized normal pancreatic epithelial cells. By inhibition of glycolysis and fatty acid synthase (FAS), the key enzyme for fatty acid synthesis, we confirmed the deuterium labeled lipids in cancer cells were from de novo lipid synthesis. Interestingly, we also found that prostate cancer cells exhibit relatively lower level of de novo lipogenesis, but higher fatty acid uptake compared to pancreatic cancer cells. Together, our results demonstrate a valuable tool to study dynamic lipid metabolism in cancer and other disorders.

  13. 43 CFR 30.206 - What happens after I file a request for de novo review?

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false What happens after I file a request for de... request for de novo review? (a) Within 10 days of receiving a request for de novo review, OHA will notify... the de novo review, and assign the case to a judge. (b) The judge will review the merits of the...

  14. 12 CFR 925.14 - De novo insured depository institution applicants.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 7 2010-01-01 2010-01-01 false De novo insured depository institution... MEMBERS AND HOUSING ASSOCIATES MEMBERS OF THE BANKS Eligibility Requirements § 925.14 De novo insured... application for membership in the Bank (de novo applicant) is deemed to meet the requirements of §§ 925.7,...

  15. 43 CFR 30.207 - What happens if nobody files for de novo review?

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false What happens if nobody files for de novo... PROBATE HEARINGS PROCEDURES Summary Probate Proceedings § 30.207 What happens if nobody files for de novo review? If no interested party requests de novo review within 30 days of the date of the written...

  16. Testing the VLT AO facility with ASSIST

    NASA Astrophysics Data System (ADS)

    Stuik, Remko; Arsenault, Robin; Boland, Wilfried; Deep, Atul; Delabre, Bernard; Hubin, Norbert; Kolb, Johann; La Penna, Paolo; Molster, Frank; Wiegers, Emiel

    2010-07-01

    The testing and verification of ESO Very Large Telescope Adaptive Optics Facility (VLT-AOF) requires new and innovative techniques to deal with the absence of an intermediate focus on the telescope. ASSIST, The Adaptive Secondary Setup and Instrument STimulator, was developed to provide a testing facility for the ESO AOF and will allow off-telescope testing of three elements of the VLT Adaptive Optics Facility; the Deformable Secondary Mirror (DSM) and the AO systems for MUSE and HAWK-I (GALACSI and GRAAL). ASSIST will provide a full testing environment which includes an interferometric testing mode for the DSM, an on-axis testing mode with a single wavefront sensor and full operation testing modes for both the AO systems. Both natural as well as laser guide stars will be simulated under various asterisms and a realistic turbulent atmosphere will be provided for varying atmospheric conditions. ASSIST passed its final design review and is now being manufactured, integrated and tested and will be operational in mid 2011, in time for first testing with the DSM.

  17. AO Observations of Three Powerful Radio Galaxies

    SciTech Connect

    de Vries, W; van Bruegel, W; Quirrenbach, A

    2002-08-01

    The host galaxies of powerful radio sources are ideal laboratories to study active galactic nuclei (AGN). The galaxies themselves are among the most massive systems in the universe, and are believed to harbor supermassive black holes (SMBH). If large galaxies are formed in a hierarchical way by multiple merger events, radio galaxies at low redshift represent the end-products of this process. However, it is not clear why some of these massive ellipticals have associated radio emission, while others do not. Both are thought to contain SMBHs, with masses proportional to the total luminous mass in the bulge. It either implies every SMBH has recurrent radio-loud phases, and the radio-quiet galaxies happen to be in the ''low'' state, or that the radio galaxy nuclei are physically different from radio-quiet ones, i.e. by having a more massive SMBH for a given bulge mass. Here we present the first results from our adaptive optics imaging and spectroscopy pilot program on three nearby powerful radio galaxies. Initiating a larger, more systematic AO survey of radio galaxies (preferentially with Laser Guide Star equipped AO systems) has the potential of furthering our understanding of the physical properties of radio sources, their triggering, and their subsequent evolution.

  18. Nursing student experiences with face-to-face learning.

    PubMed

    Gruendemann, Barbara J

    2011-12-01

    Face-to-face learning has been the mainstay of nursing student learning. Despite moves to online learning, face-to-face learning persists. This study focuses on how nursing students experience face-to-face learning and why it not only survives, but thrives. This study was anchored in a hermeneutic phenomenological approach, with Gadamerian concepts and van Manen's lifeworlds as frameworks to understand students' experiences of face-to-face learning. Patterns and themes were extracted from audiore-corded face-to-face interviews. Participants confirmed that face-to-face learning continues to be valued as a strong methodology in nursing education. Their experiences focused on humanism, the importance of "presence," physical proximity, classroom as "the real thing," immediacy of feedback, and learning and knowing by human connections and interaction. The study findings were a rich source for understanding how nursing students process learning experiences. Increased understanding of the meaning and essence of face-to-face learning is essential as we decide how nursing content will be taught. PMID:21956259

  19. [Subperiosteal face-lift].

    PubMed

    Tessier, P

    1989-01-01

    The "facial mask" is composed of all of the tissues lying on top of the skeleton: periosteum, deep adipose tissue, superficial musculo-aponeurotic tissue and skin. The periosteum is the intermediate zone between the skeleton, responsible for the shape of the face, and the more superficial tissues which complete the shapes and, most importantly, represent the mobile part of the face and consequently the site of facial expression. The secret of an effective "mask-lift" depends on complete subperiosteal dissection of the malar bones, zygomatic arches and orbital margins. This dissection can be performed via a coronal approach, but it is easier to start the subperiosteal dissection via a short vestibular incision. Subperiosteal dissection via a coronal incision is not only useful to lift the facial mask; it is also useful for remodelling the orbital margins and to obtain bone grafts from the parietal area in order to reinforce the glabella, check bones and nasogenial folds. PMID:2473674

  20. CRYSTAL/FACE

    NASA Technical Reports Server (NTRS)

    Baumgardner, Darrel; Kok, Greg; Anderson, Bruce

    2004-01-01

    Droplet Measurement Technologies (DMT), under funding from NASA, participated in the CRYSTAL/FACE field campaign in July, 2002 with measurements of cirrus cloud hydrometeors in the size range from 0.5 to 1600 microns. The measurements were made with the DMT Cloud, Aerosol and Precipitation Spectrometer (CAPS) that was flown on NASA's WB57F. With the exception of the first research flight when the data system failed two hours into the mission, the measurement system performed almost flawlessly during the thirteen flights. The measurements from the CAPS have been essential for interpretation of cirrus cloud properties and their impact on climate. The CAPS data set has been used extensively by the CRYSTAL/FACE investigators and as of the date of this report, have been included in five published research articles, 10 conference presentations and six other journal articles currently in preparation.

  1. 'Happy Face' Crater

    NASA Technical Reports Server (NTRS)

    2003-01-01

    MGS MOC Release No. MOC2-361, 15 May 2003

    Every day, the Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) wide angle instruments obtain a global view of the planet to help monitor weather and seasonal patterns of frost deposition and removal. The two pictures shown here are taken from the same daily global image mosaic (the only difference is that each was processed slightly differently). The pictures show Galle Crater, informally known as 'Happy Face,' as it appeared in early southern winter. The white-ish gray surfaces are coated with wintertime carbon dioxide frost. The pattern of frost distribution gives the appearance that 'Happy Face' has opened its mouth. Galle Crater is located on the east rim of Argyre at 51oS, 31oW. Sunlight illuminates the scene from the upper left. Galle Crater is 230 km (143 mi) across.

  2. Producing desired ice faces

    PubMed Central

    Shultz, Mary Jane; Brumberg, Alexandra; Bisson, Patrick J.; Shultz, Ryan

    2015-01-01

    The ability to prepare single-crystal faces has become central to developing and testing models for chemistry at interfaces, spectacularly demonstrated by heterogeneous catalysis and nanoscience. This ability has been hampered for hexagonal ice, Ih––a fundamental hydrogen-bonded surface––due to two characteristics of ice: ice does not readily cleave along a crystal lattice plane and properties of ice grown on a substrate can differ significantly from those of neat ice. This work describes laboratory-based methods both to determine the Ih crystal lattice orientation relative to a surface and to use that orientation to prepare any desired face. The work builds on previous results attaining nearly 100% yield of high-quality, single-crystal boules. With these methods, researchers can prepare authentic, single-crystal ice surfaces for numerous studies including uptake measurements, surface reactivity, and catalytic activity of this ubiquitous, fundamental solid. PMID:26512102

  3. Visual Search of Mooney Faces

    PubMed Central

    Goold, Jessica E.; Meng, Ming

    2016-01-01

    Faces spontaneously capture attention. However, which special attributes of a face underlie this effect is unclear. To address this question, we investigate how gist information, specific visual properties and differing amounts of experience with faces affect the time required to detect a face. Three visual search experiments were conducted investigating the rapidness of human observers to detect Mooney face images. Mooney images are two-toned, ambiguous images. They were used in order to have stimuli that maintain gist information but limit low-level image properties. Results from the experiments show: (1) Although upright Mooney faces were searched inefficiently, they were detected more rapidly than inverted Mooney face targets, demonstrating the important role of gist information in guiding attention toward a face. (2) Several specific Mooney face identities were searched efficiently while others were not, suggesting the involvement of specific visual properties in face detection. (3) By providing participants with unambiguous gray-scale versions of the Mooney face targets prior to the visual search task, the targets were detected significantly more efficiently, suggesting that prior experience with Mooney faces improves the ability to extract gist information for rapid face detection. However, a week of training with Mooney face categorization did not lead to even more efficient visual search of Mooney face targets. In summary, these results reveal that specific local image properties cannot account for how faces capture attention. On the other hand, gist information alone cannot account for how faces capture attention either. Prior experience facilitates the effect of gist on visual search of faces; making faces a special object category for guiding attention. PMID:26903941

  4. Foil Face Seal Testing

    NASA Technical Reports Server (NTRS)

    Munson, John

    2009-01-01

    In the seal literature you can find many attempts by various researchers to adapt film riding seals to the gas turbine engine. None have been successful, potential distortion of the sealing faces is the primary reason. There is a film riding device that does accommodate distortion and is in service in aircraft applications, namely the foil bearing. More specifically a foil thrust bearing. These are not intended to be seals, and they do not accommodate large axial movement between shaft & static structure. By combining the 2 a unique type of face seal has been created. It functions like a normal face seal. The foil thrust bearing replaces the normal primary sealing surface. The compliance of the foil bearing allows the foils to track distortion of the mating seal ring. The foil seal has several perceived advantages over existing hydrodynamic designs, enumerated in the chart. Materials and design methodology needed for this application already exist. Also the load capacity requirements for the foil bearing are low since it only needs to support itself and overcome friction forces at the antirotation keys.

  5. Beyond Faces and Expertise

    PubMed Central

    Zhao, Mintao; Bülthoff, Heinrich H.; Bülthoff, Isabelle

    2016-01-01

    Holistic processing—the tendency to perceive objects as indecomposable wholes—has long been viewed as a process specific to faces or objects of expertise. Although current theories differ in what causes holistic processing, they share a fundamental constraint for its generalization: Nonface objects cannot elicit facelike holistic processing in the absence of expertise. Contrary to this prevailing view, here we show that line patterns with salient Gestalt information (i.e., connectedness, closure, and continuity between parts) can be processed as holistically as faces without any training. Moreover, weakening the saliency of Gestalt information in these patterns reduced holistic processing of them, which indicates that Gestalt information plays a crucial role in holistic processing. Therefore, holistic processing can be achieved not only via a top-down route based on expertise, but also via a bottom-up route relying merely on object-based information. The finding that facelike holistic processing can extend beyond the domains of faces and objects of expertise poses a challenge to current dominant theories. PMID:26674129

  6. Double face sealing device

    NASA Technical Reports Server (NTRS)

    Weddendorf, Bruce (Inventor)

    1991-01-01

    A double face sealing device is disclosed for mounting between two surfaces to provide an air-tight and fluid-tight seal between a closure member bearing one of the surfaces and a structure or housing bearing the other surface which extends around the opening or hatchway to be closed. The double face sealing device includes a plurality of sections or segments mounted to one of the surfaces, each having a main body portion, a pair of outwardly extending and diverging, cantilever, spring arms, and a pair of inwardly extending and diverging, cantilever, spring arms, an elastomeric cover on the distal, free ends of the outwardly extending and diverging spring arms, and an elastomeric cover on the distal, free, ends of the outwardly extending and diverging spring arms, and an elastomeric cover on the distal, free ends of the inwardly extending and diverging spring arms. The double face sealing device has application or use in all environments requiring a seal, but is particularly useful to seal openings or hatchways between compartments of spacecraft or aircraft.

  7. Face-space: A unifying concept in face recognition research.

    PubMed

    Valentine, Tim; Lewis, Michael B; Hills, Peter J

    2016-10-01

    The concept of a multidimensional psychological space, in which faces can be represented according to their perceived properties, is fundamental to the modern theorist in face processing. Yet the idea was not clearly expressed until 1991. The background that led to the development of face-space is explained, and its continuing influence on theories of face processing is discussed. Research that has explored the properties of the face-space and sought to understand caricature, including facial adaptation paradigms, is reviewed. Face-space as a theoretical framework for understanding the effect of ethnicity and the development of face recognition is evaluated. Finally, two applications of face-space in the forensic setting are discussed. From initially being presented as a model to explain distinctiveness, inversion, and the effect of ethnicity, face-space has become a central pillar in many aspects of face processing. It is currently being developed to help us understand adaptation effects with faces. While being in principle a simple concept, face-space has shaped, and continues to shape, our understanding of face perception. PMID:25427883

  8. Optimizing de novo transcriptome assembly and extending genomic resources for striped catfish (Pangasianodon hypophthalmus).

    PubMed

    Thanh, Nguyen Minh; Jung, Hyungtaek; Lyons, Russell E; Njaci, Isaac; Yoon, Byoung-Ha; Chand, Vincent; Tuan, Nguyen Viet; Thu, Vo Thi Minh; Mather, Peter

    2015-10-01

    Striped catfish (Pangasianodon hypophthalmus) is a commercially important freshwater fish used in inland aquaculture in the Mekong Delta, Vietnam. The culture industry is facing a significant challenge however from saltwater intrusion into many low topographical coastal provinces across the Mekong Delta as a result of predicted climate change impacts. Developing genomic resources for this species can facilitate the production of improved culture lines that can withstand raised salinity conditions, and so we have applied high-throughput Ion Torrent sequencing of transcriptome libraries from six target osmoregulatory organs from striped catfish as a genomic resource for use in future selection strategies. We obtained 12,177,770 reads after trimming and processing with an average length of 97bp. De novo assemblies were generated using CLC Genomic Workbench, Trinity and Velvet/Oases with the best overall contig performance resulting from the CLC assembly. De novo assembly using CLC yielded 66,451 contigs with an average length of 478bp and N50 length of 506bp. A total of 37,969 contigs (57%) possessed significant similarity with proteins in the non-redundant database. Comparative analyses revealed that a significant number of contigs matched sequences reported in other teleost fishes, ranging in similarity from 45.2% with Atlantic cod to 52% with zebrafish. In addition, 28,879 simple sequence repeats (SSRs) and 55,721 single nucleotide polymorphisms (SNPs) were detected in the striped catfish transcriptome. The sequence collection generated in the current study represents the most comprehensive genomic resource for P. hypophthalmus available to date. Our results illustrate the utility of next-generation sequencing as an efficient tool for constructing a large genomic database for marker development in non-model species. PMID:25979246

  9. Age-Dependent Face Detection and Face Categorization Performance

    PubMed Central

    Carbon, Claus-Christian; Grüter, Martina; Grüter, Thomas

    2013-01-01

    Empirical studies on the development of face processing skills with age show inconsistent patterns concerning qualitative vs. quantitative changes over time or the age range for peak cognitive performance. In the present study, we tested the proficiency in face detection and face categorization with a large sample of participants (N = 312; age range: 2-88 yrs). As test objects, we used so-called Mooney faces, two-tone (black and white) images of faces lacking critical information of a local, featural and relational nature, reflecting difficult real world face processing conditions. We found that performance in the assessment of gender and age from Mooney faces increases up to about age 15, and decreases from 65 years on. The implications of these findings are discussed in the light of classic and recent findings from face development literature. PMID:24116236

  10. 9. WEST FACE OF OLD THEODOLITE BUILDING; WEST FACE OF ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    9. WEST FACE OF OLD THEODOLITE BUILDING; WEST FACE OF EAST PHOTO TOWER IN BACKGROUND - Vandenberg Air Force Base, Space Launch Complex 3, Launch Pad 3 East, Napa & Alden Roads, Lompoc, Santa Barbara County, CA

  11. Measuring Atmospheric Dynamics on Titan with AO

    NASA Astrophysics Data System (ADS)

    Adamkovics, Mate; de Pater, I.; Hartung, M.

    2009-05-01

    The cycling of fluid methane between Titan's atmosphere and surface, via seemingly familiar meteorological phenomena, is often compared to Earth's hydrology. Near-IR observations with AO resolve the moon's 1" disk, measure spatial variation in both the surface reflectivity and scattering in the atmosphere, and constrain the methane cycle. Forward models of the atmosphere are compared to observations and used to identify and quantify sources and altitudes of atmospheric opacity; including aerosols, clouds, and precipitation. The ubiquitous submicron aerosol hazes are tracers of global stratospheric dynamics over yearly timescales. Cloud properties may constrain the tropospheric circulation and are observed to change on hourly, daily, and seasonal timescales. Here we present observations of the daily life-cycle of a cloud system, a signature of tropospheric precipitation, seasonal changes in aerosol, and discuss the models that are used to quantify the observed meteorology.

  12. Face-to-Face Interference in Typical and Atypical Development

    ERIC Educational Resources Information Center

    Riby, Deborah M.; Doherty-Sneddon, Gwyneth; Whittle, Lisa

    2012-01-01

    Visual communication cues facilitate interpersonal communication. It is important that we look at faces to retrieve and subsequently process such cues. It is also important that we sometimes look away from faces as they increase cognitive load that may interfere with online processing. Indeed, when typically developing individuals hold face gaze…

  13. Challenges facing production grids

    SciTech Connect

    Pordes, Ruth; /Fermilab

    2007-06-01

    Today's global communities of users expect quality of service from distributed Grid systems equivalent to that their local data centers. This must be coupled to ubiquitous access to the ensemble of processing and storage resources across multiple Grid infrastructures. We are still facing significant challenges in meeting these expectations, especially in the underlying security, a sustainable and successful economic model, and smoothing the boundaries between administrative and technical domains. Using the Open Science Grid as an example, I examine the status and challenges of Grids operating in production today.

  14. The Magellan Telescope Adaptive Secondary AO System: a visible and mid-IR AO facility

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Gasho, Victor; Kopon, Derek; Males, Jared; Follette, Katherine B.; Brutlag, Kevin; Uomoto, Alan; Hare, Tyson

    2010-07-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in Chile at Las Campanas Observatory. The Gregorian design allows for an adaptive secondary mirror that can be tested off-sky in a straightforward manner. We have fabricated a 85 cm diameter aspheric adaptive secondary with our subcontractors and partners, the ASM passed acceptance tests in July 2010. This secondary has 585 actuators with <1 msec response times (0.7 ms typically). This adaptive secondary will allow low emissivity AO science. We will achieve very high Strehls (~98%) in the Mid-IR (3-26 microns) with the BLINC/MIRAC4 Mid-IR science camera. This will allow the first "super-resolution" and nulling Mid-IR studies of dusty southern objects. We will employ a high order (585 mode) pyramid wavefront sensor similar to that now successfully used at the Large Binocular Telescope. The relatively high actuator count will allow modest Strehls to be obtained in the visible (0.63-1.05 μm). Moderate (~20%) Strehls have already been obtained at 0.8 μm at the LBT with the same powerful combination of a next generation ASM and Pyramid WFS as we are providing for Magellan. Our visible light AO (VisAO) science camera is fed by an advanced triplet ADC and is piggy-backed on the WFS optical board. We have designed an additional "clean-up" very fast (2 kHz) tilt stabilization system for VisAO. Also a high-speed shutter will be used to block periods of poor correction. The VisAO facility can be reconfigured to feed an optical IFU spectrograph with 20 mas spaxels. The entire system passed CDR in June 2009, and is now finished the fabrication phase and is entering the integration phase. The system science and performance requirements, and an overview the design, interface and schedule for the Magellan AO system are presented here.

  15. Face the Fats Quiz 2

    MedlinePlus

    Face the Fats Quiz II Do you know your fats by heart? Ready to make informed choices about the foods you ... to fried chicken, test your knowledge about the fats in some familiar foods. Welcome to Face the ...

  16. IntraFace

    PubMed Central

    De la Torre, Fernando; Chu, Wen-Sheng; Xiong, Xuehan; Vicente, Francisco; Ding, Xiaoyu; Cohn, Jeffrey

    2016-01-01

    Within the last 20 years, there has been an increasing interest in the computer vision community in automated facial image analysis algorithms. This has been driven by applications in animation, market research, autonomous-driving, surveillance, and facial editing among others. To date, there exist several commercial packages for specific facial image analysis tasks such as facial expression recognition, facial attribute analysis or face tracking. However, free and easy-to-use software that incorporates all these functionalities is unavailable. This paper presents IntraFace (IF), a publicly-available software package for automated facial feature tracking, head pose estimation, facial attribute recognition, and facial expression analysis from video. In addition, IFincludes a newly develop technique for unsupervised synchrony detection to discover correlated facial behavior between two or more persons, a relatively unexplored problem in facial image analysis. In tests, IF achieved state-of-the-art results for emotion expression and action unit detection in three databases, FERA, CK+ and RU-FACS; measured audience reaction to a talk given by one of the authors; and discovered synchrony for smiling in videos of parent-infant interaction. IF is free of charge for academic use at http://www.humansensing.cs.cmu.edu/intraface/.

  17. Cognitive mechanisms of face processing.

    PubMed

    Ellis, A W

    1992-01-29

    Evidence from natural and induced errors of face recognition, from the effects of different cues on resolving errors, and from the latencies to make different decisions about seen faces, all suggest that familiar face recognition involves a fixed, invariant sequence of stages. To recognize a familiar face, a perceptual description of a seen face must first activate a long-standing representation of the appearance of the face of the familiar person. 'Semantic' knowledge about such things as the person's occupation and personality are accessed next, followed, in the final stage, by the name. Certain factors affect the ease of familiar face recognition. Faces seen in the recent past are recognized more readily (repetition priming), as are distinctive faces, and faces preceded by those of related individuals (associative priming). Our knowledge of these phenomena is reviewed for the light it can shed upon the mechanisms of face recognition. Four aspects of face recognition--graded similarity effects and part-to-whole completion in repetition priming, prototype extraction with simultaneous retention of information about individual exemplars, and distinctiveness effects in classification and identification--are proposed as being compatible with distributed memory accounts of cognitive representations. PMID:1348131

  18. A novel thermal face recognition approach using face pattern words

    NASA Astrophysics Data System (ADS)

    Zheng, Yufeng

    2010-04-01

    A reliable thermal face recognition system can enhance the national security applications such as prevention against terrorism, surveillance, monitoring and tracking, especially at nighttime. The system can be applied at airports, customs or high-alert facilities (e.g., nuclear power plant) for 24 hours a day. In this paper, we propose a novel face recognition approach utilizing thermal (long wave infrared) face images that can automatically identify a subject at both daytime and nighttime. With a properly acquired thermal image (as a query image) in monitoring zone, the following processes will be employed: normalization and denoising, face detection, face alignment, face masking, Gabor wavelet transform, face pattern words (FPWs) creation, face identification by similarity measure (Hamming distance). If eyeglasses are present on a subject's face, an eyeglasses mask will be automatically extracted from the querying face image, and then masked with all comparing FPWs (no more transforms). A high identification rate (97.44% with Top-1 match) has been achieved upon our preliminary face dataset (of 39 subjects) from the proposed approach regardless operating time and glasses-wearing condition.e

  19. FaceID: A face detection and recognition system

    SciTech Connect

    Shah, M.B.; Rao, N.S.V.; Olman, V.; Uberbacher, E.C.; Mann, R.C.

    1996-12-31

    A face detection system that automatically locates faces in gray-level images is described. Also described is a system which matches a given face image with faces in a database. Face detection in an Image is performed by template matching using templates derived from a selected set of normalized faces. Instead of using original gray level images, vertical gradient images were calculated and used to make the system more robust against variations in lighting conditions and skin color. Faces of different sizes are detected by processing the image at several scales. Further, a coarse-to-fine strategy is used to speed up the processing, and a combination of whole face and face component templates are used to ensure low false detection rates. The input to the face recognition system is a normalized vertical gradient image of a face, which is compared against a database using a set of pretrained feedforward neural networks with a winner-take-all fuser. The training is performed by using an adaptation of the backpropagation algorithm. This system has been developed and tested using images from the FERET database and a set of images obtained from Rowley, et al and Sung and Poggio.

  20. RNA-template dependent de novo telomere addition.

    PubMed

    Fuhrmann, Gloria; Jönsson, Franziska; Weil, Patrick Philipp; Postberg, Jan; Lipps, Hans J

    2016-08-01

    De novo addition of telomeric sequences can occur at broken chromosomes and must be well controlled, which is essential during programmed DNA reorganization processes. In ciliated protozoa an extreme form of DNA-reorganization is observed during macronuclear differentiation after sexual reproduction leading to the elimination of specific parts of the germline genome. Regulating these processes involves small noncoding RNAs, but in addition DNA-reordering, excision and amplification require RNA templates deriving from the parental macronucleus. We show that these putative RNA templates can carry telomeric repeats. Microinjection of RNA templates carrying modified telomeres into the developing macronucleus leads to modified telomeres in vegetative cells, providing strong evidence, that de novo addition of telomeres depends on a telomere-containing transcript from the parental macronucleus. PMID:26786510

  1. De Novo Gene Disruptions in Children on the Autistic Spectrum

    PubMed Central

    Iossifov, Ivan; Ronemus, Michael; Levy, Dan; Wang, Zihua; Hakker, Inessa; Rosenbaum, Julie; Yamrom, Boris; Lee, Yoon-ha; Narzisi, Giuseppe; Leotta, Anthony; Kendall, Jude; Grabowska, Ewa; Ma, Beicong; Marks, Steven; Rodgers, Linda; Stepansky, Asya; Troge, Jennifer; Andrews, Peter; Bekritsky, Mitchell; Pradhan, Kith; Ghiban, Elena; Kramer, Melissa; Parla, Jennifer; Demeter, Ryan; Fulton, Lucinda L.; Fulton, Robert S.; Magrini, Vincent J.; Ye, Kenny; Darnell, Jennifer C.; Darnell, Robert B.; Mardis, Elaine R.; Wilson, Richard K.; Schatz, Michael C.; McCombie, W. Richard; Wigler, Michael

    2012-01-01

    SUMMARY Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We do not see significantly greater numbers of de novo missense mutations in affected versus unaffected children, but gene-disrupting mutations (nonsense, splice site, and frame shifts) are twice as frequent, 59 to 28. Based on this differential and the number of recurrent and total targets of gene disruption found in our and similar studies, we estimate between 350 and 400 autism susceptibility genes. Many of the disrupted genes in these studies are associated with the fragile X protein, FMRP, reinforcing links between autism and synaptic plasticity. We find FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders. PMID:22542183

  2. Evolution of new functions de novo and from preexisting genes.

    PubMed

    Andersson, Dan I; Jerlström-Hultqvist, Jon; Näsvall, Joakim

    2015-06-01

    How the enormous structural and functional diversity of new genes and proteins was generated (estimated to be 10(10)-10(12) different proteins in all organisms on earth [Choi I-G, Kim S-H. 2006. Evolution of protein structural classes and protein sequence families. Proc Natl Acad Sci 103: 14056-14061] is a central biological question that has a long and rich history. Extensive work during the last 80 years have shown that new genes that play important roles in lineage-specific phenotypes and adaptation can originate through a multitude of different mechanisms, including duplication, lateral gene transfer, gene fusion/fission, and de novo origination. In this review, we focus on two main processes as generators of new functions: evolution of new genes by duplication and divergence of pre-existing genes and de novo gene origination in which a whole protein-coding gene evolves from a noncoding sequence. PMID:26032716

  3. A de novo peptide hexamer with a mutable channel

    PubMed Central

    Zaccai, Nathan R.; Chi, Bertie; Thomson, Andrew R.; Boyle, Aimee L.; Bartlett, Gail J.; Bruning, Marc; Linden, Noah; Sessions, Richard B.; Booth, Paula J.; Brady, R. Leo; Woolfson, Derek N.

    2011-01-01

    The design of new proteins that expand the repertoire of natural protein structures represents a formidable challenge. Success in this area would increase understanding of protein structure, and present new scaffolds that could be exploited in biotechnology and synthetic biology. Here we describe the design, characterisation and X-ray crystal structure of a new coiled-coil protein. The de novo sequence forms a stand-alone, parallel, 6-helix bundle with a channel running through it. Although lined exclusively by hydrophobic leucine and isoleucine side chains, the 6 Å channel is permeable to water. One layer of leucine residues within the channel is mutable accepting polar aspartic acid (Asp) and histidine (His) side chains, and leading to subdivision and organization of solvent within the lumen. Moreover, these mutants can be combined to form a stable and unique (Asp-His)3 heterohexamer. These new structures provide a basis for engineering de novo proteins with new functions. PMID:22037471

  4. De Novo Mutations in Ataxin-2 Gene and ALS Risk

    PubMed Central

    Laffita-Mesa, José Miguel; Rodríguez Pupo, Jorge Michel; Moreno Sera, Raciel; Vázquez Mojena, Yaimee; Kourí, Vivian; Laguna-Salvia, Leonides; Martínez-Godales, Michael; Valdevila Figueira, José A.; Bauer, Peter O.; Rodríguez-Labrada, Roberto; Zaldívar, Yanetza González; Paucar, Martin; Svenningsson, Per; Pérez, Luís Velázquez

    2013-01-01

    Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATXN2 with autosomal dominant ALS. These findings support our previous conjectures based on population studies on the role of large normal ATXN2 alleles as the source for new mutations being involved in neurodegenerative pathologies associated with CAG expansions. The de novo mutations expanded from ALS/SCA2 non-risk alleles as proven by meta-analysis method. The ALS risk was associated with SCA2 alleles as well as with intermediate CAG lengths in the ATXN2. Higher risk for ALS was associated with pathogenic CAG repeat as revealed by meta-analysis. PMID:23936447

  5. From de novo mutations to personalized therapeutic interventions in autism.

    PubMed

    Brandler, William M; Sebat, Jonathan

    2015-01-01

    The high heritability, early age at onset, and reproductive disadvantages of autism spectrum disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo (spontaneous) mutations. Mutation detection by microarray analysis and DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-coding regions of genes contribute to risk, and some of the underlying causal variants and genes have been identified. As our understanding of autism genes develops, the spectrum of autism is breaking up into quanta of many different genetic disorders. Given the diversity of etiologies and underlying biochemical pathways, personalized therapy for ASDs is logical, and clinical genetic testing is a prerequisite. PMID:25587659

  6. LGS-AO Imaging of Every Kepler Planet Candidate: the Robo-AO KOI Survey

    NASA Astrophysics Data System (ADS)

    Baranec, Christoph; Law, Nicholas; Morton, Timothy; Ziegler, Carl; Nofi, Larissa; Atkinson, Dani; Riddle, Reed

    2015-12-01

    The Robo-AO Kepler Planetary Candidate Survey is observing every Kepler planet candidate host star with laser adaptive optics imaging, to search for blended nearby stars which may be physically associated companions and/or responsible for transit false positives. We will present the results from searching for companions around over 3,000 Kepler planet hosts in 2012-2015. We will describe our first data release covering 715 planet candidate hosts, and give a preview of ongoing results including improved statistics on the likelihood of false positive planet detections in the Kepler dataset, many new planets in multiple star systems, and new exotic multiple star systems containing Kepler planets. We will also describe the automated Robo-AO survey data reduction methods, including a method of using the large ensemble of target observations as mutual point-spread-function references, along with a new automated companion-detection algorithm designed for extremely large adaptive optics surveys. Our first data release covered 715 objects, searching for companions from 0.15” to 2.5” separation with contrast up to 6 magnitudes. We measured the overall nearby-star-probability for Kepler planet candidates to be 7.4+/-1.0%, and we will detail the variations in this number with stellar host parameters. We will also discuss plans to extend the survey to other transiting planet missions such as K2 and TESS as Robo-AO is in the process of being re-deployed to the 2.1-m telescope at Kitt Peak for 3 years and a higher-contrast Robo-AO system is being developed for the 2.2-m UH telescope on Maunakea.

  7. NovoPen Echo(®) insulin delivery device.

    PubMed

    Hyllested-Winge, Jacob; Sparre, Thomas; Pedersen, Line Kynemund

    2016-01-01

    The introduction of insulin pen devices has provided easier, well-tolerated, and more convenient treatment regimens for patients with diabetes mellitus. When compared with vial and syringe regimens, insulin pens offer a greater clinical efficacy, improved quality of life, and increased dosing accuracy, particularly at low doses. The portable and discreet nature of pen devices reduces the burden on the patient, facilitates adherence, and subsequently contributes to the improvement in glycemic control. NovoPen Echo(®) is one of the latest members of the NovoPen(®) family that has been specifically designed for the pediatric population and is the first to combine half-unit increment (=0.5 U of insulin) dosing with a simple memory function. The half-unit increment dosing amendments and accurate injection of 0.5 U of insulin are particularly beneficial for children (and insulin-sensitive adults/elders), who often require small insulin doses. The memory function can be used to record the time and amount of the last dose, reducing the fear of double dosing or missing a dose. The memory function also provides parents with extra confidence and security that their child is taking insulin at the correct doses and times. NovoPen Echo is a lightweight, durable insulin delivery pen; it is available in two different colors, which may help to distinguish between different types of insulin, providing more confidence for both users and caregivers. Studies have demonstrated a high level of patient satisfaction, with 80% of users preferring NovoPen Echo to other pediatric insulin pens. PMID:26793007

  8. Effective de novo assembly of fish genome using haploid larvae.

    PubMed

    Iwasaki, Yuki; Nishiki, Issei; Nakamura, Yoji; Yasuike, Motoshige; Kai, Wataru; Nomura, Kazuharu; Yoshida, Kazunori; Nomura, Yousuke; Fujiwara, Atushi; Kobayashi, Takanori; Ototake, Mitsuru

    2016-02-01

    Recent improvements in next-generation sequencing technology have made it possible to do whole genome sequencing, on even non-model eukaryote species with no available reference genomes. However, de novo assembly of diploid genomes is still a big challenge because of allelic variation. The aim of this study was to determine the feasibility of utilizing the genome of haploid fish larvae for de novo assembly of whole-genome sequences. We compared the efficiency of assembly using the haploid genome of yellowtail (Seriola quinqueradiata) with that using the diploid genome obtained from the dam. De novo assembly from the haploid and the diploid sequence reads (100 million reads per each datasets) generated by the Ion Proton sequencer (200 bp) was done under two different assembly algorithms, namely overlap-layout-consensus (OLC) and de Bruijn graph (DBG). This revealed that the assembly of the haploid genome significantly reduced (approximately 22% for OLC, 9% for DBG) the total number of contigs (with longer average and N50 contig lengths) when compared to the diploid genome assembly. The haploid assembly also improved the quality of the scaffolds by reducing the number of regions with unassigned nucleotides (Ns) (total length of Ns; 45,331,916 bp for haploids and 67,724,360 bp for diploids) in OLC-based assemblies. It appears clear that the haploid genome assembly is better because the allelic variation in the diploid genome disrupts the extension of contigs during the assembly process. Our results indicate that utilizing the genome of haploid larvae leads to a significant improvement in the de novo assembly process, thus providing a novel strategy for the construction of reference genomes from non-model diploid organisms such as fish. PMID:26478467

  9. NovoPen Echo® insulin delivery device

    PubMed Central

    Hyllested-Winge, Jacob; Sparre, Thomas; Pedersen, Line Kynemund

    2016-01-01

    The introduction of insulin pen devices has provided easier, well-tolerated, and more convenient treatment regimens for patients with diabetes mellitus. When compared with vial and syringe regimens, insulin pens offer a greater clinical efficacy, improved quality of life, and increased dosing accuracy, particularly at low doses. The portable and discreet nature of pen devices reduces the burden on the patient, facilitates adherence, and subsequently contributes to the improvement in glycemic control. NovoPen Echo® is one of the latest members of the NovoPen® family that has been specifically designed for the pediatric population and is the first to combine half-unit increment (=0.5 U of insulin) dosing with a simple memory function. The half-unit increment dosing amendments and accurate injection of 0.5 U of insulin are particularly beneficial for children (and insulin-sensitive adults/elders), who often require small insulin doses. The memory function can be used to record the time and amount of the last dose, reducing the fear of double dosing or missing a dose. The memory function also provides parents with extra confidence and security that their child is taking insulin at the correct doses and times. NovoPen Echo is a lightweight, durable insulin delivery pen; it is available in two different colors, which may help to distinguish between different types of insulin, providing more confidence for both users and caregivers. Studies have demonstrated a high level of patient satisfaction, with 80% of users preferring NovoPen Echo to other pediatric insulin pens. PMID:26793007

  10. De novo isochromosome 18p in a female dysmorphic child.

    PubMed

    Ramegowda, Smitha; Gawde, Harshavardhan M; Hyderi, Abbas; Savitha, Mysore R; Patel, Zareen M; Krishnamurthy, Balasundaram; Ramachandra, Nallur B

    2006-01-01

    Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX+i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication. PMID:17132906

  11. Infant Mortality in Novo Hamburgo: Associated Factors and Cardiovascular Causes

    PubMed Central

    Brum, Camila de Andrade; Stein, Airton Tetelbom; Pellanda, Lucia Campos

    2015-01-01

    Background Infant mortality has decreased in Brazil, but remains high as compared to that of other developing countries. In 2010, the Rio Grande do Sul state had the lowest infant mortality rate in Brazil. However, the municipality of Novo Hamburgo had the highest infant mortality rate in the Porto Alegre metropolitan region. Objective To describe the causes of infant mortality in the municipality of Novo Hamburgo from 2007 to 2010, identifying which causes were related to heart diseases and if they were diagnosed in the prenatal period, and to assess the access to healthcare services. Methods This study assessed infants of the municipality of Novo Hamburgo, who died, and whose data were collected from the infant death investigation records. Results Of the 157 deaths in that period, 35.3% were reducible through diagnosis and early treatment, 25% were reducible through partnership with other sectors, 19.2% were non-preventable, 11.5% were reducible by means of appropriate pregnancy monitoring, 5.1% were reducible through appropriate delivery care, and 3.8% were ill defined. The major cause of death related to heart disease (13.4%), which was significantly associated with the variables ‘age at death’, ‘gestational age’ and ‘birth weight’. Regarding access to healthcare services, 60.9% of the pregnant women had a maximum of six prenatal visits. Conclusion It is mandatory to enhance prenatal care and newborn care at hospitals and basic healthcare units to prevent infant mortality. PMID:25993588

  12. The Recent De Novo Origin of Protein C-Termini

    PubMed Central

    Andreatta, Matthew E.; Levine, Joshua A.; Foy, Scott G.; Guzman, Lynette D.; Kosinski, Luke J.; Cordes, Matthew H.J.; Masel, Joanna

    2015-01-01

    Protein-coding sequences can arise either from duplication and divergence of existing sequences, or de novo from noncoding DNA. Unfortunately, recently evolved de novo genes can be hard to distinguish from false positives, making their study difficult. Here, we study a more tractable version of the process of conversion of noncoding sequence into coding: the co-option of short segments of noncoding sequence into the C-termini of existing proteins via the loss of a stop codon. Because we study recent additions to potentially old genes, we are able to apply a variety of stringent quality filters to our annotations of what is a true protein-coding gene, discarding the putative proteins of unknown function that are typical of recent fully de novo genes. We identify 54 examples of C-terminal extensions in Saccharomyces and 28 in Drosophila, all of them recent enough to still be polymorphic. We find one putative gene fusion that turns out, on close inspection, to be the product of replicated assembly errors, further highlighting the issue of false positives in the study of rare events. Four of the Saccharomyces C-terminal extensions (to ADH1, ARP8, TPM2, and PIS1) that survived our quality filters are predicted to lead to significant modification of a protein domain structure. PMID:26002864

  13. Pleiotropy of the de novo-originated gene MDF1

    PubMed Central

    Li, Dan; Yan, Zhihui; Lu, Lina; Jiang, Huifeng; Wang, Wen

    2014-01-01

    MDF1 is a young de novo-originated gene from a non-coding sequence in baker's yeast, S. cerevisiae, which can suppress mating and promote vegetative growth. Our previous experiments successfully demonstrated how Mdf1p binds to the key mating pathway determinant MATα2 to suppress mating. However, how Mdf1p promotes growth and fulfills the crosstalk between the yeast mating and growth pathways are still open questions. Thus, the adaptive significance of this new de novo gene remains speculative. Here, we show that Mdf1p shortens the lag phase of S. cerevisiae by physically interacting with SNF1, the governing factor for nonfermentable carbon source utilization, and thereby confers a selective advantage on yeasts through the rapid consumption of glucose in the early generational stage in rich medium. Therefore, MDF1 functions in two important molecular pathways, mating and fermentation, and mediates the crosstalk between reproduction and vegetative growth. Together, our results provide a comprehensive example of how a de novo-originated gene organizes new regulatory circuits and thereby confers a selective advantage on S. cerevisiae to allow exquisite adaptation to the changing environment. PMID:25452167

  14. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

    PubMed

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-08-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification. PMID:26757981

  15. Face lift postoperative recovery.

    PubMed

    Mottura, A Aldo

    2002-01-01

    The purpose of this paper is to describe what I have studied and experienced, mainly regarding the control and prediction of the postoperative edema; how to achieve an agreeable recovery and give positive support to the patient, who in turn will receive pleasant sensations that neutralize the negative consequences of the surgery.After the skin is lifted, the drainage flow to the flaps is reversed abruptly toward the medial part of the face, where the flap bases are located. The thickness and extension of the flap determines the magnitude of the post-op edema, which is also augmented by medial surgeries (blepharo, rhino) whose trauma obstruct their natural drainage, increasing the congestion and edema. To study the lymphatic drainage, the day before an extended face lift (FL) a woman was infiltrated in the cheek skin with lynfofast (solution of tecmesio) and the absorption was observed by gamma camera. Seven days after the FL she underwent the same study; we observed no absorption by the lymphatic, concluding that a week after surgery, the lymphatic network was still damaged. To study the venous return during surgery, a fine catheter was introduced into the external jugular vein up to the mandibular border to measure the peripheral pressure. Following platysma plication the pressure rose, and again after a simple bandage, but with an elastic bandage it increased even further, diminishing considerably when it was released. Hence, platysma plication and the elastic bandage on the neck augment the venous congestion of the face. There are diseases that produce and can prolong the surgical edema: cardiac, hepatic, and renal insufficiencies, hypothyroidism, malnutrition, etc. According to these factors, the post-op edema can be predicted, the surgeon can choose between a wide dissection or a medial surgery, depending on the social or employment compromises the patient has, or the patient must accept a prolonged recovery if a complex surgery is necessary. Operative

  16. Reanimating the paralyzed face

    PubMed Central

    2013-01-01

    Facial animation is an essential part of human communication and one of the main means of expressing emotions, indexing our physiologic state and providing nonverbal cues. The loss of this important human quality due to facial paralysis can be devastating and is often associated with depression, social isolation and poor quality of life. Interruption of the neuromuscular pathway from the facial motor cortex to the facial muscles is the common causative factor in facial paralysis resulting from various etiologies. Restoring tone, symmetry and movement to the paralyzed face requires timely nerve grafting intervention in cases of reversible paralysis and the transfer of functional muscle units in irreversible paralysis. We review recent advances in these techniques. PMID:24273650

  17. Energy conservation using face detection

    NASA Astrophysics Data System (ADS)

    Deotale, Nilesh T.; Kalbande, Dhananjay R.; Mishra, Akassh A.

    2011-10-01

    Computerized Face Detection, is concerned with the difficult task of converting a video signal of a person to written text. It has several applications like face recognition, simultaneous multiple face processing, biometrics, security, video surveillance, human computer interface, image database management, digital cameras use face detection for autofocus, selecting regions of interest in photo slideshows that use a pan-and-scale and The Present Paper deals with energy conservation using face detection. Automating the process to a computer requires the use of various image processing techniques. There are various methods that can be used for Face Detection such as Contour tracking methods, Template matching, Controlled background, Model based, Motion based and color based. Basically, the video of the subject are converted into images are further selected manually for processing. However, several factors like poor illumination, movement of face, viewpoint-dependent Physical appearance, Acquisition geometry, Imaging conditions, Compression artifacts makes Face detection difficult. This paper reports an algorithm for conservation of energy using face detection for various devices. The present paper suggests Energy Conservation can be done by Detecting the Face and reducing the brightness of complete image and then adjusting the brightness of the particular area of an image where the face is located using histogram equalization.

  18. Self-face enhances processing of immediately preceding invisible faces.

    PubMed

    Pannese, Alessia; Hirsch, Joy

    2011-02-01

    The self-face is thought to be an especially salient stimulus. Behavioral evidence suggests that self-face processing advantage is associated with enhanced processing of temporally adjacent subliminal stimuli. However, the neural basis of this self-related processing modulation has not been investigated. We studied self-face induced signal amplification through masked priming and repetition suppression (fMRI adaptation). Subjects performed a gender-categorization task on self- and non-self target faces preceded by subliminal (17 ms) prime faces. The relationship between prime and target was varied between task-incongruent (when prime and target belonged to a different gender) and task-congruent (when prime and target belonged to the same gender) pairs. We found that, in the presence of the visible self-face (but not of other non-self faces), a bilateral fronto-parietal network exhibited repetition suppression to subliminal prime faces belonging to the same gender (task-congruent) as the target, consistent with the notion that, in the presence of the self-face, subliminal stimuli access high-level processing systems. These results are in agreement with the notion of self-specific top-down amplification of subliminal task-relevant information, and suggest that the self-face, through its high salience, is particularly efficacious in focusing attention. PMID:21168427

  19. Electromagnetic DM technology meets future AO demands

    NASA Astrophysics Data System (ADS)

    Hamelinck, Roger; Rosielle, Nick; Steinbuch, Maarten; Doelman, Niek

    New deformable mirror technology is developed by the Technische Universiteit Eindhoven, Delft University of Technology and TNO Science and Industry. Several prototype adaptive deformable mirrors are realized mirrors, up to 427 actuators and ∅150mm diameter, with characteristics suitable for future AO systems. The prototypes consist of a 100µm thick, continuous facesheet on which low voltage, electromagnetic, push-pull actuators impose out-of-plane displacements. The variable reluctance actuators with ±10µm stroke and nanometer resolution are located in a standard actuator module. Each module with 61 actuators connects to a single PCB with dedicated, 16 bit, PWM based, drivers. A LVDS multi-drop cable connects up to 32 actuator modules. With the actuator module, accompanying PCB and multi-drop system the deformable mirror technology is made modular in its mechanics and electronics. An Ethernet-LVDS bridge enables any commercial PC to control the mirror using the UDP standard. Latest results of the deformable mirror technology development are presented.

  20. Low-order AO system in LAMOST

    NASA Astrophysics Data System (ADS)

    Yuan, Xiangyan; Cui, Xiangqun; Liu, Genrong; Zhang, Yong; Qi, Yongjun

    2006-06-01

    The large sky area multi-object fiber spectroscopic telescope (LAMOST) is a special reflecting Schmidt telescope with its main optical axis on the meridian plane tilted by an angle of 25° to the horizontal. The clear aperture is 4m, working in optical band. The light path is 60m long when working in observing mode and it will be doubled if work in auto-collimation mode. So the image quality is affected clearly by the ground seeing and the dome seeing. In order to improve the seeing condition of the long light path, we enclosed the spherical primary and the focus unit in a tunnel enclosure and cooled the tunnel. This is an effective but passive method. Corresponding experiments and simulations show the main part of the aberrations caused by the ground seeing and dome seeing is slowly changed low order items such as tip-tilt, defocus, astigmatism, coma and spherical aberration. Thus we plan to develop the low-order AO system based on the low-cost 37-channel OKO deformable mirror for the telescope to better the ground seeing and the dome seeing, not aimed to reach diffraction limited image. This work is being carried on now.

  1. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

    PubMed

    Millan, Francisca; Cho, Megan T; Retterer, Kyle; Monaghan, Kristin G; Bai, Renkui; Vitazka, Patrik; Everman, David B; Smith, Brooke; Angle, Brad; Roberts, Victoria; Immken, LaDonna; Nagakura, Honey; DiFazio, Marc; Sherr, Elliott; Haverfield, Eden; Friedman, Bethany; Telegrafi, Aida; Juusola, Jane; Chung, Wendy K; Bale, Sherri

    2016-07-01

    Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely effective in identifying de novo pathogenic variants as a common cause of NDD. Here we report six unrelated individuals with a common phenotype consisting of NDD with severe speech delay, hypotonia, and facial dysmorphism. These patients underwent WES with a trio approach and de novo heterozygous predicted pathogenic novel variants in the KAT6A gene were identified. The KAT6A gene encodes a histone acetyltransfrease protein and it has long been known for its structural involvement in acute myeloid leukemia; however, it has not previously been associated with any congenital disorder. In animal models the KAT6A ortholog is involved in transcriptional regulation during development. Given the similar findings in animal models and our patient's phenotypes, we hypothesize that KAT6A could play a role in development of the brain, face, and heart in humans. © 2016 Wiley Periodicals, Inc. PMID:27133397

  2. Wired for Her Face? Male Attentional Bias for Female Faces

    PubMed Central

    Okazaki, Yuka; Abrahamyan, Arman; Stevens, Catherine J.

    2009-01-01

    Under conditions of inattention or deficits in orienting attention, special classes of stimuli (e.g. faces, bodies) are more likely to be perceived than other stimuli. This suggests that biologically salient visual stimuli automatically recruit attention, even when they are task-irrelevant or ignored. Here we report results from a behavioral experiment with female and male subjects and two magnetoencephalography (MEG) experiments with male subjects only, in which we investigated attentional capture with face and hand stimuli. In both the behavioral and MEG experiments, subjects were required to count the number of gender-specific targets from either face or hand categories within a block of stimuli. In the behavioral experiment, we found that male subjects were significantly more accurate in response to female than male face target blocks. There was no corresponding effect found in response to hand target blocks. Female subjects did not show a gender-based difference in response to face or hand target blocks. MEG results indicated that the male subjects’ responses to face stimuli in primary visual cortex (V1) and the face-selective part of the fusiform gyrus (FG) were reduced when male face stimuli were not relevant to the task, whereas female faces maintained a strong response in these areas in both task-relevant and task-irrelevant conditions. These results suggest that within the male brain, female face stimuli are more resilient to suppression than male faces, once attention is drawn to the part of the visual field where the face appears. PMID:19809873

  3. Face-n-Food: Gender Differences in Tuning to Faces

    PubMed Central

    Pavlova, Marina A.; Scheffler, Klaus; Sokolov, Alexander N.

    2015-01-01

    Faces represent valuable signals for social cognition and non-verbal communication. A wealth of research indicates that women tend to excel in recognition of facial expressions. However, it remains unclear whether females are better tuned to faces. We presented healthy adult females and males with a set of newly created food-plate images resembling faces (slightly bordering on the Giuseppe Arcimboldo style). In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Females not only more readily recognized the images as a face (they reported resembling a face on images, on which males still did not), but gave on overall more face responses. The findings are discussed in the light of gender differences in deficient face perception. As most neuropsychiatric, neurodevelopmental and psychosomatic disorders characterized by social brain abnormalities are sex specific, the task may serve as a valuable tool for uncovering impairments in visual face processing. PMID:26154177

  4. 'Lysi-T-FACE

    NASA Astrophysics Data System (ADS)

    Herndl, Markus; Pötsch, Erich; Kandolf, Matthias; Bohner, Andreas; Schaumberger, Andreas; Resch, Reinhard; Graiss, Wilhelm; Krautzer, Bernhard; Buchgraber, Karl

    2010-05-01

    During the past century the average global surface air temperature has already increased by 1°C. A doubling of atmospheric concentration of CO2 near the end of the 21st century is predicted to result in a 3°C temperature increase. The Alpine region has experienced above average warming over the last century and is considered particularly vulnerable to global change. In Austria in some regions, grassland production suffered severe droughts during the last decade leading to serious damages and even temporal shortage in feed supply. Changes in temperature and precipitation have evident consequences for grassland vegetation. Increasing atmospheric CO2 concentration is a major driver of climate change. Photosynthesis and productivity of most grassland species might be stimulated by increasing CO2 when soil nutrients and water are not limiting. On dry grassland sites increasing CO2 also reduces plant water loss, thereby increasing plant water use efficiency. When plant production is limited by seasonal cold temperatures as e.g. in the inner Alpine parts of Austria and in high altitude or high latitude grasslands, combined warming and higher CO2 might continue to enhance plant production. However, it is still unknown to what extend a further increase of temperature and CO2 will result in higher biomass yield in different grassland communities. To study the effects of global warming on future grassland communities and management, the application of a heating treatment combined with free-air controlled enhancement of CO2 (T-FACE) to open-field plant canopies at lysimeters is an innovative approach which allows studying responses of the plant-soil-systems as well as carbon- water and nutrient fluxes under expected future climate. The experiment is scheduled to run in the first phase 6 years (2011-2017) and is located at the AREC Raumberg-Gumpenstein, Upper Enns Valley, Austria (47,49; 14,10). Heater arrays and miniFACE rings are installed in 1.6 m diameter plots and expose

  5. Holistic face training enhances face processing in developmental prosopagnosia.

    PubMed

    DeGutis, Joseph; Cohan, Sarah; Nakayama, Ken

    2014-06-01

    Prosopagnosia has largely been regarded as an untreatable disorder. However, recent case studies using cognitive training have shown that it is possible to enhance face recognition abilities in individuals with developmental prosopagnosia. Our goal was to determine if this approach could be effective in a larger population of developmental prosopagnosics. We trained 24 developmental prosopagnosics using a 3-week online face-training program targeting holistic face processing. Twelve subjects with developmental prosopagnosia were assessed before and after training, and the other 12 were assessed before and after a waiting period, they then performed the training, and were then assessed again. The assessments included measures of front-view face discrimination, face discrimination with view-point changes, measures of holistic face processing, and a 5-day diary to quantify potential real-world improvements. Compared with the waiting period, developmental prosopagnosics showed moderate but significant overall training-related improvements on measures of front-view face discrimination. Those who reached the more difficult levels of training ('better' trainees) showed the strongest improvements in front-view face discrimination and showed significantly increased holistic face processing to the point of being similar to that of unimpaired control subjects. Despite challenges in characterizing developmental prosopagnosics' everyday face recognition and potential biases in self-report, results also showed modest but consistent self-reported diary improvements. In summary, we demonstrate that by using cognitive training that targets holistic processing, it is possible to enhance face perception across a group of developmental prosopagnosics and further suggest that those who improved the most on the training task received the greatest benefits. PMID:24691394

  6. Recurrent and de novo disease after renal transplantation: a report from the Renal Allograft Disease Registry.

    PubMed

    Hariharan, Sundaram; Savin, Virginia J

    2004-08-01

    Recurrent and de novo disease is an increasing problem and is known to negatively impact transplant graft survival. Immunosuppressive medications have not had an impact on the prevalence of recurrent and de novo disease. Renal Allograft Disease Registry (RADR) was established to study the prevalence, impact and risk factors for the development of recurrent and de novo disease. Retrospective and prospective study on recurrent disease is discussed in this manuscript. PMID:15265160

  7. The stereographic analysis of facing

    NASA Astrophysics Data System (ADS)

    Holdsworth, Robert E.

    Facing directions represent an accurate means by which tectonic structure and sedimentary way-up may be related. A simple method is presented for determining facing directions accurately, using a stereonet. Once determined, larger amounts of facing data can be quickly collated and analysed using similar techniques to those employed for other lineations. An example is given for some sheath fold structures in the Moine rocks of Sutherland, N. Scotland.

  8. First closed-loop visible AO test results for the advanced adaptive secondary AO system for the Magellan Telescope: MagAO's performance and status

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Males, Jared R.; Kopon, Derek A.; Gasho, Victor; Follette, Katherine B.; Hinz, Phil; Morzinski, Katie; Uomoto, Alan; Hare, Tyson; Riccardi, Armando; Esposito, Simone; Puglisi, Alfio; Pinna, Enrico; Busoni, Lorenzo; Arcidiacono, Carmelo; Xompero, Marco; Briguglio, Runa; Quiros-Pacheco, Fernando; Argomedo, Javier

    2012-07-01

    The heart of the 6.5 Magellan AO system (MagAO) is a 585 actuator adaptive secondary mirror (ASM) with <1 msec response times (0.7 ms typically). This adaptive secondary will allow low emissivity and high-contrast AO science. We fabricated a high order (561 mode) pyramid wavefront sensor (similar to that now successfully used at the Large Binocular Telescope). The relatively high actuator count (and small projected ~23 cm pitch) allows moderate Strehls to be obtained by MagAO in the “visible” (0.63-1.05 μm). To take advantage of this we have fabricated an AO CCD science camera called "VisAO". Complete “end-to-end” closed-loop lab tests of MagAO achieve a solid, broad-band, 37% Strehl (122 nm rms) at 0.76 μm (i’) with the VisAO camera in 0.8” simulated seeing (13 cm ro at V) with fast 33 mph winds and a 40 m Lo locked on R=8 mag artificial star. These relatively high visible wavelength Strehls are enabled by our powerful combination of a next generation ASM and a Pyramid WFS with 400 controlled modes and 1000 Hz sample speeds (similar to that used successfully on-sky at the LBT). Currently only the VisAO science camera is used for lab testing of MagAO, but this high level of measured performance (122 nm rms) promises even higher Strehls with our IR science cameras. On bright (R=8 mag) stars we should achieve very high Strehls (>70% at H) in the IR with the existing MagAO Clio2 (λ=1-5.3 μm) science camera/coronagraph or even higher (~98% Strehl) the Mid-IR (8-26 microns) with the existing BLINC/MIRAC4 science camera in the future. To eliminate non-common path vibrations, dispersions, and optical errors the VisAO science camera is fed by a common path advanced triplet ADC and is piggy-backed on the Pyramid WFS optical board itself. Also a high-speed shutter can be used to block periods of poor correction. The entire system passed CDR in June 2009, and we finished the closed-loop system level testing phase in December 2011. Final system acceptance (

  9. AO 0235+164 and Surrounding Field: Surprising HST Results

    NASA Technical Reports Server (NTRS)

    Burbidge, E. M.; Beaver, E. A.; Cohen, Ross D.; Junkkarinen, V. T.; Lyons, R. W.

    1996-01-01

    Results obtained with the Hubble Space Telescope on the highly variable radio, x-ray, and gamma-ray emitting QSO (or BL Lac object) AO 0235 + 164 are presented and analyzed. WFPC2 images were obtained in 1994 June, when AO 0235 + 164 was bright (m approx. 17), and the results are described in Sec. 3. After subtraction of the PSF of the QSO, hereafter called AO following the nomenclature of Yanny et al. (1989), the companion object named A, 2 sec south of AO, is discovered not to be an elliptical galaxy as hypothesized earlier, but to be an AGN object, with a central UV-bright point-source nucleus and faint surrounding nebulosity extending to AO. The second companion object 1.3 sec east of AO discovered by Yanny et al. (1989) and named object Al, appears more like a normal spiral galaxy. We have measured the positions, luminosities, and colors of some 30 faint objects in the field around AO 0235 + 16; most are extended and may be star-forming galaxies in a loose group or cluster. Our most surprising result of the HST observations comes from FOS spectra obtained in 1995 July, discussed in Sec. 4. Because of a positioning error of the telescope and AO's faintness at that time (m approx. 20), object A was observed instead of the intended target AO. Serendipitously, we discovered A to have broad deep BALQSO-type absorptions of C IV, Si IV, N V shortward of broad emissions. A is thus ejecting high velocity, highly ionized gas into the surrounding IGM. We discuss in Sec. 5 the relationship of the objects in the central 10 sec X 1O sec region around AO, where redshifts z(sub e) = 0.94, z(sub a) = 0.524, 0.851 in AO, (sub e) = 0.524 and Z(sub BAL)=0.511 in A, are found. We hypothesize that some of the 30 faint objects in the 77 sec. x 77 sec. field may be part of a large star-forming region at z approx. 0.5, as suggested for a few objects by Yanny et al. (1989). The proximity of two highly active extragalactic objects, AO 0235+164 and its AGN companion A, is remarkable and

  10. Face detection: mapping human performance.

    PubMed

    Lewis, Michael B; Edmonds, Andrew J

    2003-01-01

    The recognition of faces has been the focus of an extensive body of research, whereas the preliminary and prerequisite task of detecting a face has received limited attention from psychologists. Four experiments are reported that address the question how we detect a face. Experiment 1 reveals that we use information from the scene to aid detection. In experiment 2 we investigated which features of a face speed the detection of faces. Experiment 3 revealed inversion effects and an interaction between the effects of blurring and reduction of contrast. In experiment 4 the sizes of effects of reversal of orientation, luminance, and hue were compared. Luminance was found to have the greatest effect on reaction time to detect faces. The results are interpreted as suggesting that face detection proceeds by a pre-attentive stage that identifies possible face regions, which is followed by a focused-attention stage that employs a deformable template. Comparisons are drawn with automatic face-detection systems. PMID:14580138

  11. Open questions in the study of de novo genes: what, how and why.

    PubMed

    McLysaght, Aoife; Hurst, Laurence D

    2016-09-01

    The study of de novo protein-coding genes is maturing from the ad hoc reporting of individual cases to the systematic analysis of extensive genomic data from several species. We identify three key challenges for this emerging field: understanding how best to identify de novo genes, how they arise and why they spread. We highlight the intellectual challenges of understanding how a de novo gene becomes integrated into pre-existing functions and becomes essential. We suggest that, as with protein sequence evolution, antagonistic co-evolution may be key to de novo gene evolution, particularly for new essential genes and new cancer-associated genes. PMID:27452112

  12. De novo sequencing of unique sequence tags for discovery of post-translational modifications of proteins

    SciTech Connect

    Shen, Yufeng; Tolic, Nikola; Hixson, Kim K.; Purvine, Samuel O.; Anderson, Gordon A.; Smith, Richard D.

    2008-10-15

    De novo sequencing has a promise to discover the protein post-translation modifications; however, such approach is still in their infancy and not widely applied for proteomics practices due to its limited reliability. In this work, we describe a de novo sequencing approach for discovery of protein modifications through identification of the UStags (Anal. Chem. 2008, 80, 1871-1882). The de novo information was obtained from Fourier-transform tandem mass spectrometry for peptides and polypeptides in a yeast lysate, and the de novo sequences obtained were filtered to define a more limited set of UStags. The DNA-predicted database protein sequences were then compared to the UStags, and the differences observed across or in the UStags (i.e., the UStags’ prefix and suffix sequences and the UStags themselves) were used to infer the possible sequence modifications. With this de novo-UStag approach, we uncovered some unexpected variances of yeast protein sequences due to amino acid mutations and/or multiple modifications to the predicted protein sequences. Random matching of the de novo sequences to the predicted sequences were examined with use of two random (false) databases, and ~3% false discovery rates were estimated for the de novo-UStag approach. The factors affecting the reliability (e.g., existence of de novo sequencing noise residues and redundant sequences) and the sensitivity are described. The de novo-UStag complements the UStag method previously reported by enabling discovery of new protein modifications.

  13. Comparative Analysis of Online vs. Face-to-Face Instruction.

    ERIC Educational Resources Information Center

    Johnson, Scott D.; Aragon, Steven R.; Shaik, Najmuddin; Palma-Rivas, Nilda

    This empirical study compared a graduate online course with an equivalent course taught in a traditional face-to-face format. Comparisons included student ratings of instructor and course quality; assessment of course interaction, structure, and support; and learning outcomes such as course grades and student self-assessment of ability to perform…

  14. Blended Outreach: Face-to-Face and Remote Programs

    ERIC Educational Resources Information Center

    Poeppelmeyer, Diana

    2011-01-01

    The Texas School for the Deaf (TSD) has two missions. One is to provide educational services to deaf and hard of hearing students and their families on the Austin campus--this is the traditional, face-to-face, center-based service model. The other is to serve as a resource center for the state, providing information, referral, programs, and…

  15. Future Schools: Blending Face-to-Face and Online Learning

    ERIC Educational Resources Information Center

    Schorr, Jonathan; McGriff, Deborah

    2012-01-01

    "Hybrid schools" are schools that combine "face-to-face" education in a specific place with online instruction. In this article, the authors describe school models which offer a vision for what deeply integrated technology can mean for children's education, for the way schools are structured, and for the promise of greater efficiency amid a…

  16. View of Face A and Face B Arrays, looking northeast ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    View of Face A and Face B Arrays, looking northeast - Beale Air Force Base, Perimeter Acquisition Vehicle Entry Phased-Array Warning System, Techinical Equipment Building, End of Spencer Paul Road, north of Warren Shingle Road (14th Street), Marysville, Yuba County, CA

  17. Looking northwest, Face B Array to left, Face C (rear) ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    Looking northwest, Face B Array to left, Face C (rear) center, Power Plant (Building 5761), to right - Beale Air Force Base, Perimeter Acquisition Vehicle Entry Phased-Array Warning System, Techinical Equipment Building, End of Spencer Paul Road, north of Warren Shingle Road (14th Street), Marysville, Yuba County, CA

  18. Face-to-face interference in typical and atypical development

    PubMed Central

    Riby, Deborah M; Doherty-Sneddon, Gwyneth; Whittle, Lisa

    2012-01-01

    Visual communication cues facilitate interpersonal communication. It is important that we look at faces to retrieve and subsequently process such cues. It is also important that we sometimes look away from faces as they increase cognitive load that may interfere with online processing. Indeed, when typically developing individuals hold face gaze it interferes with task completion. In this novel study we quantify face interference for the first time in Williams syndrome (WS) and Autism Spectrum Disorder (ASD). These disorders of development impact on cognition and social attention, but how do faces interfere with cognitive processing? Individuals developing typically as well as those with ASD (n = 19) and WS (n = 16) were recorded during a question and answer session that involved mathematics questions. In phase 1 gaze behaviour was not manipulated, but in phase 2 participants were required to maintain eye contact with the experimenter at all times. Looking at faces decreased task accuracy for individuals who were developing typically. Critically, the same pattern was seen in WS and ASD, whereby task performance decreased when participants were required to hold face gaze. The results show that looking at faces interferes with task performance in all groups. This finding requires the caveat that individuals with WS and ASD found it harder than individuals who were developing typically to maintain eye contact throughout the interaction. Individuals with ASD struggled to hold eye contact at all points of the interaction while those with WS found it especially difficult when thinking. PMID:22356183

  19. Teaching over the WEB versus Face to Face.

    ERIC Educational Resources Information Center

    Smith, Glenn Gordon; Caris, Mieke; Ferguson, David

    This qualitative study investigated differences, from the point of view of instructors, between teaching college courses over the Web versus in more traditional face-to-face formats. Twenty-one college instructors who had taught in both formats were interviewed. Four of the interviews were by telephone and 17 by e-mail. Interview fragments were…

  20. Teaching On-Line versus Face-to-Face.

    ERIC Educational Resources Information Center

    Smith, Glenn Gordon; Ferguson, David; Caris, Mieke

    2002-01-01

    Investigates and describes the current instructor experience of teaching college courses over the Web versus in face-to-face formats in terms of teaching strategies, social issues, and media effects. Discusses communication styles, relationship between students and instructors, instructor workload, and discussion patterns, and proposes a model…

  1. Informed kmer selection for de novo transcriptome assembly

    PubMed Central

    Durai, Dilip A.; Schulz, Marcel H.

    2016-01-01

    Motivation: De novo transcriptome assembly is an integral part for many RNA-seq workflows. Common applications include sequencing of non-model organisms, cancer or meta transcriptomes. Most de novo transcriptome assemblers use the de Bruijn graph (DBG) as the underlying data structure. The quality of the assemblies produced by such assemblers is highly influenced by the exact word length k. As such no single kmer value leads to optimal results. Instead, DBGs over different kmer values are built and the assemblies are merged to improve sensitivity. However, no studies have investigated thoroughly the problem of automatically learning at which kmer value to stop the assembly. Instead a suboptimal selection of kmer values is often used in practice. Results: Here we investigate the contribution of a single kmer value in a multi-kmer based assembly approach. We find that a comparative clustering of related assemblies can be used to estimate the importance of an additional kmer assembly. Using a model fit based algorithm we predict the kmer value at which no further assemblies are necessary. Our approach is tested with different de novo assemblers for datasets with different coverage values and read lengths. Further, we suggest a simple post processing step that significantly improves the quality of multi-kmer assemblies. Conclusion: We provide an automatic method for limiting the number of kmer values without a significant loss in assembly quality but with savings in assembly time. This is a step forward to making multi-kmer methods more reliable and easier to use. Availability and Implementation:A general implementation of our approach can be found under: https://github.com/SchulzLab/KREATION. Supplementary information: Supplementary data are available at Bioinformatics online. Contact: mschulz@mmci.uni-saarland.de PMID:27153653

  2. The Subaru Coronagraphic Extreme AO Project: Progress and Upgrades

    NASA Astrophysics Data System (ADS)

    Jovanovic, Nemanja; Martinache, F.; Guyon, O.; Clergeon, C.; Garrel, V.

    2013-01-01

    The Subaru Coronagraphic Extreme AO (SCExAO) instrument consists of a high performance Phase Induced Amplitude Apodisation (PIAA) coronagraph combined with an extreme Adaptive Optics (AO) system operating in the near-infrared (H band). The extreme AO system driven by the 2000 element deformable mirror will allow for Strehl ratios>90% to be achieved in the H-band when it goes closed loop. This makes the SCExAO instrument a powerful platform for high contrast imaging down to angular separations of the order of 1 λ/D. In this paper we report on the recent progress in regards to the development of the instrument, which includes the addition of a visible bench that makes use of the light at shorter wavelengths not currently utilized by SCExAO and closing the loop on the tip/tilt wavefront sensor. We will also discuss two exciting guest instruments which will expand the capabilities of SCExAO over the next few years; namely CHARIS which is a integral field spectrograph as well as VAMPIRES, a visible aperture masking experiment based on polarimetric analysis of circumstellar disks.

  3. The carbon isotopic composition of Novo Urei diamonds

    NASA Technical Reports Server (NTRS)

    Fisenko, A. V.; Semjenova, L. F.; Verchovsky, A. B.; Russell, S. S.; Pillinger, C. T.

    1993-01-01

    The carbon isotopic composition of diamond grains isolated from the Novo Urei meteorite are discussed. A diamond separate was obtained from 2g of whole rock using the chemical treatments described aimed at obtaining very pure diamond. X ray diffraction of the residue, which represented 5000 ppm of the parent mass, indicated only the presence of the desired mineral. The diamond crystals were 1-30 microns in diameter, and some grains had a yellow color. The chemical treatments were followed by a size separation to give a 1-10 microns and a 5-30 microns fraction, which were named DNU-1 and DNU-2, respectively.

  4. De novo periaortic fibrosis after endovascular aortic repair.

    PubMed

    Alomran, Faris; de Blic, Romain; Mallios, Alexandros; Costanzo, Alessandro; Boura, Benoit; Combes, Myriam

    2014-02-01

    We report a case of a 63-year-old man presenting with abdominal pain and hydronephrosis secondary to periaortic fibrosis (PAF) 8 months after an endovascular aortic repair (EVAR) using a woven polyester bifurcated graft. De novo delayed PAF after open repair is rare and even more infrequent after EVAR. All 3 previously reported cases occurred after woven polyester grafts and no reported cases after polytetrafluorethylene grafts. Management included steroidal anti-inflammatory treatment and bilateral double J tube placement. Satisfactory results were obtained. PMID:24275428

  5. De Novo Designed Imaging Agents Based on Lanthanide Peptides Complexes.

    PubMed

    Peacock, A F A

    2016-01-01

    Herein are discussed a selection of lanthanide peptide/protein complexes in view of their potential applications as imaging agents, both in terms of luminescence detection and magnetic resonance imaging. Though this chapter covers a range of different peptides and protein, if focuses specifically on the opportunities afforded by the de novo design of coiled coils, miniature protein scaffolds, and the development on lanthanide-binding sites into these architectures. The requirements for lanthanide coordination and the challenges that need to be addressed when preparing lanthanide peptides with a view to their potential adoption as clinical imaging applications, will be highlighted. PMID:27586349

  6. De Novo Design at the Edge of Chaos.

    PubMed

    Schneider, Petra; Schneider, Gisbert

    2016-05-12

    Computational medicinal chemistry offers viable strategies for finding, characterizing, and optimizing innovative pharmacologically active compounds. Technological advances in both computer hardware and software as well as biological chemistry have enabled a renaissance of computer-assisted "de novo" design of molecules with desired pharmacological properties. Here, we present our current perspective on the concept of automated molecule generation by highlighting chemocentric methods that may capture druglike chemical space, consider ligand promiscuity for hit and lead finding, and provide fresh ideas for the rational design of customized screening of compound libraries. PMID:26881908

  7. RNAbrowse: RNA-Seq de novo assembly results browser.

    PubMed

    Mariette, Jérôme; Noirot, Céline; Nabihoudine, Ibounyamine; Bardou, Philippe; Hoede, Claire; Djari, Anis; Cabau, Cédric; Klopp, Christophe

    2014-01-01

    Transcriptome analysis based on a de novo assembly of next generation RNA sequences is now performed routinely in many laboratories. The generated results, including contig sequences, quantification figures, functional annotations and variation discovery outputs are usually bulky and quite diverse. This article presents a user oriented storage and visualisation environment permitting to explore the data in a top-down manner, going from general graphical views to all possible details. The software package is based on biomart, easy to install and populate with local data. The software package is available under the GNU General Public License (GPL) at http://bioinfo.genotoul.fr/RNAbrowse. PMID:24823498

  8. RNAbrowse: RNA-Seq De Novo Assembly Results Browser

    PubMed Central

    Mariette, Jérôme; Noirot, Céline; Nabihoudine, Ibounyamine; Bardou, Philippe; Hoede, Claire; Djari, Anis; Cabau, Cédric; Klopp, Christophe

    2014-01-01

    Transcriptome analysis based on a de novo assembly of next generation RNA sequences is now performed routinely in many laboratories. The generated results, including contig sequences, quantification figures, functional annotations and variation discovery outputs are usually bulky and quite diverse. This article presents a user oriented storage and visualisation environment permitting to explore the data in a top-down manner, going from general graphical views to all possible details. The software package is based on biomart, easy to install and populate with local data. The software package is available under the GNU General Public License (GPL) at http://bioinfo.genotoul.fr/RNAbrowse. PMID:24823498

  9. SCExAO: First Results and On-Sky Performance

    NASA Technical Reports Server (NTRS)

    Currie, Thayne; Guyon, Olivier; Martinache, Frantz; Clergeon, Christophe; McElwain, Michael; Thalmann, Christian; Jovanovic, Nemanja; Singh, Garima; Kudo, Tomoyuki

    2013-01-01

    We present new on-sky results for the Subaru Coronagraphic Extreme Adaptive Optics imager (SCExAO) verifying and quantifying the contrast gain enabled by key components: the closed-loop coronagraphic low-order wavefront sensor (CLOWFS) and focal plane wavefront control ("speckle nulling"). SCExAO will soon be coupled with a high-order, Pyramid wavefront sensor which will yield greater than 90% Strehl ratio and enable 10(exp 6) -10(exp 7) contrast at small angular separations allowing us to image gas giant planets at solar system scales. Upcoming instruments like VAMPIRES, FIRST, and CHARIS will expand SCExAO's science capabilities.

  10. SCExAO: First Results and On-Sky Performance

    NASA Astrophysics Data System (ADS)

    Currie, Thayne; Guyon, Olivier; Martinache, Frantz; Clergeon, Christophe; McElwain, Michael; Thalmann, Christian; Jovanovic, Nemanja; Singh, Garima; Kudo, Tomoyuki

    2014-01-01

    We present new on-sky results for the Subaru Coronagraphic Extreme Adaptive Optics imager (SCExAO) verifying and quantifying the contrast gain enabled by key components: the closed-loop coronagraphic low-order wavefront sensor (CLOWFS) and focal plane wavefront control (``speckle nulling''). SCExAO will soon be coupled with a high-order, Pyramid wavefront sensor which will yield > 90% Strehl ratio and enable 106-107 contrast at small angular separations allowing us to image gas giant planets at solar system scales. Upcoming instruments like VAMPIRES, FIRST, and CHARIS will expand SCExAO's science capabilities.

  11. Inversion and Configuration of Faces.

    ERIC Educational Resources Information Center

    Bartlett, James C.; Searcy, Jean

    1993-01-01

    The Thatcher illusion, in which the inverted mouth and eyes of a face appear grotesque when upright, but not when the whole configuration is inverted, was studied in 3 experiments involving 89 undergraduates. Results suggest that the illusion represents a disruption of encoding of holistic information when faces are inverted. (SLD)

  12. Parallel Processing in Face Perception

    ERIC Educational Resources Information Center

    Martens, Ulla; Leuthold, Hartmut; Schweinberger, Stefan R.

    2010-01-01

    The authors examined face perception models with regard to the functional and temporal organization of facial identity and expression analysis. Participants performed a manual 2-choice go/no-go task to classify faces, where response hand depended on facial familiarity (famous vs. unfamiliar) and response execution depended on facial expression…

  13. Configural Processing and Face Viewpoint

    ERIC Educational Resources Information Center

    McKone, Elinor

    2008-01-01

    Configural/holistic processing, a key property of face recognition, has previously been examined only for front views of faces. Here, 6 experiments tested front (0 degree), three-quarter (45 degree), and profile views (90 degree), using composite and peripheral inversion tasks. Results showed an overall disadvantage in identifying profiles. This…

  14. Newborns' Mooney-Face Perception

    ERIC Educational Resources Information Center

    Leo, Irene; Simion, Francesca

    2009-01-01

    The aim of this study is to investigate whether newborns detect a face on the basis of a Gestalt representation based on first-order relational information (i.e., the basic arrangement of face features) by using Mooney stimuli. The incomplete 2-tone Mooney stimuli were used because they preclude focusing both on the local features (i.e., the fine…

  15. Priming with threatening faces modulates the self-face advantage by enhancing the other-face processing rather than suppressing the self-face processing.

    PubMed

    Guan, Lili; Qi, Mingming; Li, Haijiang; Hitchman, Glenn; Yang, Juan; Liu, Yijun

    2015-05-22

    Social emotional information influences self-processing in everyday activities, but few researchers have investigated this process. The current ERP study adopted a prime paradigm to investigate how socially threatening faces impact on the self-face processing advantage. After being primed with emotional faces (happy, angry or neutral), participants judged whether the target face (self, friend, and stranger) was familiar or unfamiliar. Results showed an interaction effect between the prime face and the target face at posterior P3, suggesting that after priming with happy and neutral faces, self-faces elicited larger P3 amplitudes than friend-faces and stranger-faces; however, after priming with angry faces, the P3 amplitudes were not significantly different between self-face and friend-face. Moreover, the P3 amplitudes of self-faces did not differ between priming with angry and neutral faces; however, the P3 amplitude of both friend-faces and stranger-faces showed enhanced responses after priming with angry faces compared to priming with neutral faces. We suggest that the self-face processing advantage (self vs. friend) could be weakened by priming with threatening faces, through enhancement of the other-faces processing rather than suppression of self-faces processing in angry vs. neutral face prime. PMID:25765156

  16. Genetic specificity of face recognition

    PubMed Central

    Shakeshaft, Nicholas G.; Plomin, Robert

    2015-01-01

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities. PMID:26417086

  17. A face recognition embedded system

    NASA Astrophysics Data System (ADS)

    Pun, Kwok Ho; Moon, Yiu Sang; Tsang, Chi Chiu; Chow, Chun Tak; Chan, Siu Man

    2005-03-01

    This paper presents an experimental study of the implementation of a face recognition system in embedded systems. To investigate the feasibility and practicality of real time face recognition on such systems, a door access control system based on face recognition is built. Due to the limited computation power of embedded device, a semi-automatic scheme for face detection and eye location is proposed to solve these computationally hard problems. It is found that to achieve real time performance, optimization of the core face recognition module is needed. As a result, extensive profiling is done to pinpoint the execution hotspots in the system and optimization are carried out. After careful precision analysis, all slow floating point calculations are replaced with their fixed-point versions. Experimental results show that real time performance can be achieved without significant loss in recognition accuracy.

  18. Ethanol enhances de novo synthesis of high density lipoprotein cholesterol

    SciTech Connect

    Cluette, J.E.; Mulligan, J.J.; Noring, R.; Doyle, K.; Hojnacki, J.

    1984-05-01

    Male squirrel monkeys fed ethanol at variable doses were used to assess whether alcohol enhances de novo synthesis of high density lipoprotein (HDL) cholesterol in vivo. Monkeys were divided into three groups: 1) controls fed isocaloric liquid diet; 2) low ethanol monkeys fed liquid diet with vodka substituted isocalorically for carbohydrate at 12% of calories; and 3) High Ethanol animals fed diet plus vodka at 24% of calories. High Ethanol primates had significantly higher levels of HDL nonesterified cholesterol than Control and Low Ethanol animals while serum glutamate oxaloacetate transaminase was similar for the three treatments. There were no significant differences between the groups in HDL cholesteryl ester mass or specific activity following intravenous injection of labeled mevalonolactone. By contrast, High Ethanol monkeys had significantly greater HDL nonesterified cholesterol specific activity with approximately 60% of the radioactivity distributed in the HDL/sub 3/ subfraction. This report provides the first experimental evidence that ethanol at 24% of calories induces elevations in HDL cholesterol in primates through enhanced de novo synthesis without adverse effects on liver function.

  19. Molecular characterization of de novo secondary trisomy 13.

    PubMed Central

    Shaffer, L. G.; McCaskill, C.; Han, J. Y.; Choo, K. H.; Cutillo, D. M.; Donnenfeld, A. E.; Weiss, L.; Van Dyke, D. L.

    1994-01-01

    Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In this study, four cases of de novo secondary trisomy 13 are presented. FISH using alpha-satellite sequences, rDNA, and a pTRI-6 satellite I sequence specific to the short arm of chromosome 13 showed all four rearrangements to be dicentric and apparently devoid of ribosomal genes. Three of four rearrangements retained the pTRI-6 satellite I sequence. Case 1 was the exception, showing a deletion of this sequence in the rearrangement, although both parental chromosomes 13 had strong positive hybridization signals. Eleven microsatellite markers from chromosome 13 were also used to characterize the rearrangements. Of the four possible outcomes, one maternal Robertsonian translocation, two paternal isochromosomes, and one maternal isochromosome were observed. A double recombination was observed in the maternally derived rob(13q13q). No recombination events were detected in any isochromosome. The parental origins and molecular chromosomal structure of these cases are compared with previous studies of de novo acrocentric rearrangements. Images Figure 1 Figure 2 Figure 3 PMID:7977360

  20. Heavy-metal complexation by de novo peptide design.

    PubMed

    Farrer, Brian T; Pecoraro, Vincent L

    2002-11-01

    From poisoning caused by lead-based paint on domestic buildings to groundwater contamination by naturally occurring arsenic deposits in India, heavy-metal toxicity is a global health problem. Contaminated ground water and acute cases of heavy-metal poisoning are treated with chelators to remove the heavy metals from the contaminated site or person. This review discusses the effort to generate heavy-metal chelators through peptide de novo design. De novo design entails the design of a primary sequence that will precisely fold into a predetermined secondary and tertiary protein structure. The first-generation peptide chelator used to initiate this investigation is the three-stranded coild coil containing Cys. Cys provides a potential trigonal binding site with soft thiolate ligands, which has been proposed to provide specific interactions with heavy metals. This hypothesis derives from the observation that similar sites on natural proteins show selectivity for heavy metals over other essential metals, such as Zn or Mg. A description of two systems, the TRI series and the IZ-AC peptide, is given, highlighting the interaction of these peptides with Hg, Cd, As and Pb. Arguments are also presented for the potential use of three-helix bundles as a second-generation design. PMID:12478724

  1. Assembly, Assessment, and Availability of De novo Generated Eukaryotic Transcriptomes

    PubMed Central

    Moreton, Joanna; Izquierdo, Abril; Emes, Richard D.

    2016-01-01

    De novo assembly of a complete transcriptome without the need for a guiding reference genome is attractive, particularly where the cost and complexity of generating a eukaryote genome is prohibitive. The transcriptome should not however be seen as just a quick and cheap alternative to building a complete genome. Transcriptomics allows the understanding and comparison of spatial and temporal samples within an organism, and allows surveying of multiple individuals or closely related species. De novo assembly in theory allows the building of a complete transcriptome without any prior knowledge of the genome. It also allows the discovery of alternate splice forms of coding RNAs and also non-coding RNAs, which are often missed by proteomic approaches, or are incompletely annotated in genome studies. The limitations of the method are that the generation of a truly complete assembly is unlikely, and so we require some methods for the assessment of the quality and appropriateness of a generated transcriptome. Whilst no single consensus pipeline or tool is agreed as optimal, various algorithms, and easy to use software do exist making transcriptome generation a more common approach. With this expansion of data, questions still exist relating to how do we make these datasets fully discoverable, comparable and most useful to understand complex biological systems? PMID:26793234

  2. Tea consumption reduces the risk of de novo myelodysplastic syndromes.

    PubMed

    Liu, Ping; Zhang, Min; Jin, Jie; Holman, C D'Arcy J

    2015-02-01

    Epidemiologic data suggest that green tea consumption may protect against certain cancers, but no previous study has examined myelodysplastic syndromes (MDS). A hospital-based case-control study was conducted in China in 2012-2013 to investigate the association between tea intake and the risk of de novo MDS in adults. The study included 208 cases aged 19-85 years with MDS and 208 controls individually matched to the cases by gender, 5-year age group and residential locality. Odds ratios (ORs) were estimated using conditional logistic regression. Compared with non-tea drinkers, the adjusted ORs (95% confidence intervals) for all MDS combined were 0.39 (0.20-0.74), 0.45 (0.25-0.79), and 0.40 (0.21-0.77) for those who consumed tea >20 years, ≥2 cups daily, and dried tealeaves ≥750g per annum, respectively. Significant dose-response trends were observed across all the measures. The inverse association existed in both genders, in the refractory anemia with excessive blasts subtype, in cytogenetic 'good' and 'intermediated/poor' prognosis groups, and in the International Prognostic Scoring System lower and higher risk groups, but not in the refractory cytopenia with multilineage dysplasia subtype. The study suggests that regular tea consumption reduces the risk of de novo MDS in the Chinese population. PMID:25529769

  3. Origins of De Novo Genes in Human and Chimpanzee.

    PubMed

    Ruiz-Orera, Jorge; Hernandez-Rodriguez, Jessica; Chiva, Cristina; Sabidó, Eduard; Kondova, Ivanela; Bontrop, Ronald; Marqués-Bonet, Tomàs; Albà, M Mar

    2015-12-01

    The birth of new genes is an important motor of evolutionary innovation. Whereas many new genes arise by gene duplication, others originate at genomic regions that did not contain any genes or gene copies. Some of these newly expressed genes may acquire coding or non-coding functions and be preserved by natural selection. However, it is yet unclear which is the prevalence and underlying mechanisms of de novo gene emergence. In order to obtain a comprehensive view of this process, we have performed in-depth sequencing of the transcriptomes of four mammalian species--human, chimpanzee, macaque, and mouse--and subsequently compared the assembled transcripts and the corresponding syntenic genomic regions. This has resulted in the identification of over five thousand new multiexonic transcriptional events in human and/or chimpanzee that are not observed in the rest of species. Using comparative genomics, we show that the expression of these transcripts is associated with the gain of regulatory motifs upstream of the transcription start site (TSS) and of U1 snRNP sites downstream of the TSS. In general, these transcripts show little evidence of purifying selection, suggesting that many of them are not functional. However, we find signatures of selection in a subset of de novo genes which have evidence of protein translation. Taken together, the data support a model in which frequently-occurring new transcriptional events in the genome provide the raw material for the evolution of new proteins. PMID:26720152

  4. Origins of De Novo Genes in Human and Chimpanzee

    PubMed Central

    Ruiz-Orera, Jorge; Hernandez-Rodriguez, Jessica; Chiva, Cristina; Sabidó, Eduard; Kondova, Ivanela; Bontrop, Ronald; Marqués-Bonet, Tomàs; Albà, M.Mar

    2015-01-01

    The birth of new genes is an important motor of evolutionary innovation. Whereas many new genes arise by gene duplication, others originate at genomic regions that did not contain any genes or gene copies. Some of these newly expressed genes may acquire coding or non-coding functions and be preserved by natural selection. However, it is yet unclear which is the prevalence and underlying mechanisms of de novo gene emergence. In order to obtain a comprehensive view of this process, we have performed in-depth sequencing of the transcriptomes of four mammalian species—human, chimpanzee, macaque, and mouse—and subsequently compared the assembled transcripts and the corresponding syntenic genomic regions. This has resulted in the identification of over five thousand new multiexonic transcriptional events in human and/or chimpanzee that are not observed in the rest of species. Using comparative genomics, we show that the expression of these transcripts is associated with the gain of regulatory motifs upstream of the transcription start site (TSS) and of U1 snRNP sites downstream of the TSS. In general, these transcripts show little evidence of purifying selection, suggesting that many of them are not functional. However, we find signatures of selection in a subset of de novo genes which have evidence of protein translation. Taken together, the data support a model in which frequently-occurring new transcriptional events in the genome provide the raw material for the evolution of new proteins. PMID:26720152

  5. DOGS: Reaction-Driven de novo Design of Bioactive Compounds

    PubMed Central

    Hartenfeller, Markus; Zettl, Heiko; Walter, Miriam; Rupp, Matthias; Reisen, Felix; Proschak, Ewgenij; Weggen, Sascha; Stark, Holger; Schneider, Gisbert

    2012-01-01

    We present a computational method for the reaction-based de novo design of drug-like molecules. The software DOGS (Design of Genuine Structures) features a ligand-based strategy for automated ‘in silico’ assembly of potentially novel bioactive compounds. The quality of the designed compounds is assessed by a graph kernel method measuring their similarity to known bioactive reference ligands in terms of structural and pharmacophoric features. We implemented a deterministic compound construction procedure that explicitly considers compound synthesizability, based on a compilation of 25'144 readily available synthetic building blocks and 58 established reaction principles. This enables the software to suggest a synthesis route for each designed compound. Two prospective case studies are presented together with details on the algorithm and its implementation. De novo designed ligand candidates for the human histamine H4 receptor and γ-secretase were synthesized as suggested by the software. The computational approach proved to be suitable for scaffold-hopping from known ligands to novel chemotypes, and for generating bioactive molecules with drug-like properties. PMID:22359493

  6. Molecular characterization of de novo secondary trisomy 13

    SciTech Connect

    Shaffer, L.G.; McCaskill, C.; Han, Jin-Yeong; Choo, K.H.A.; Cutillo, D.M.; Donnenfeld, A.E.; Weiss, L.; Van Dyke, D.L.

    1994-11-01

    Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In this study, four cases of de novo secondary trisomy 13 are presented. FISH using alpha-satellite sequences, rDNA, and a pTRI-6 satellite I sequence specific to the short arm of chromosome 13 showed all four rearrangements to be dicentric an apparently devoid of ribosomal genes. Three of four rearrangements retained the pTRI-6 satellite I sequence. Case 1 was the exception, showing a deletion of this sequence in the rearrangement, although both parental chromosomes 13 had strong positive hybridization signals. Eleven microsatellite markers from chromosome 13 were also used to characterize the rearrangements. Of the four possible outcomes, one maternal Robertsonian translocation, two paternal isochromosomes, and one maternal isochromosomes were observed. A double recombination was observed in the maternally derived rob(13q13q). No recombination events were detected in any isochromosome. The parental origins and molecular chromosomal structure of these cases are compared with previous studies of de novo acrocentric rearrangements. 20 refs., 3 figs., 2 tabs.

  7. De novo transcriptome assembly of two different apricot cultivars.

    PubMed

    Jo, Yeonhwa; Lian, Sen; Cho, Jin Kyong; Choi, Hoseong; Chu, Hyosub; Cho, Won Kyong

    2015-12-01

    Apricot (Prunus armeniaca) belonging to the Prunus species is a popular kind of stone fruit tree. Apricot is native to Armenia and is currently cultivated in many countries with climates adaptable for apricot growth. In general, fresh fruits as well as dried apricot are produced. However, the information associated with genes and genetic markers for apricot is very limited. In this study, we carried out de novo transcriptome assembly for two selected apricot cultivars referred to as Harcot and Ungarische Beste, which are commercially important apricot cultivars in the world, using next generation sequencing. We obtained a total of 9.31 GB and 8.88 GB raw data from Harcot and Ungarische Beste (NCBI accession numbers: SRX1186946 and SRX1186893), respectively. De novo transcriptome assembly using Trinity identified 147,501 and 152,235 transcripts for Harcot and Ungarische Beste, respectively. Next, we identified 113,565 and 126,444 proteins from Harcot and Ungarische Beste using the TransDecoder program. We performed BLASTP against an NCBI non-redundant (nr) dataset to annotate identified proteins. Taken together, we provide transcriptomes of two different apricot cultivars by RNA-Seq. PMID:26697397

  8. De novo transcriptome assembly of Setatria italica variety Taejin.

    PubMed

    Jo, Yeonhwa; Lian, Sen; Cho, Jin Kyong; Choi, Hoseong; Kim, Sang-Min; Kim, Sun-Lim; Lee, Bong Choon; Cho, Won Kyong

    2016-06-01

    Foxtail millet (Setaria italica) belonging to the family Poaceae is an important millet that is widely cultivated in East Asia. Of the cultivated millets, the foxtail millet has the longest history and is one of the main food crops in South India and China. Moreover, foxtail millet is a model plant system for biofuel generation utilizing the C4 photosynthetic pathway. In this study, we carried out de novo transcriptome assembly for the foxtail millet variety Taejin collected from Korea using next-generation sequencing. We obtained a total of 8.676 GB raw data by paired-end sequencing. The raw data in this study can be available in NCBI SRA database with accession number of SRR3406552. The Trinity program was used to de novo assemble 145,332 transcripts. Using the TransDecoder program, we predicted 82,925 putative proteins. BLASTP was performed against the Swiss-Prot protein sequence database to annotate the functions of identified proteins, resulting in 20,555 potentially novel proteins. Taken together, this study provides transcriptome data for the foxtail millet variety Taejin by RNA-Seq. PMID:27257606

  9. Extensive Natural Epigenetic Variation at a De Novo Originated Gene

    PubMed Central

    Silveira, Amanda Bortolini; Trontin, Charlotte; Cortijo, Sandra; Barau, Joan; Del Bem, Luiz Eduardo Vieira; Loudet, Olivier; Colot, Vincent; Vincentz, Michel

    2013-01-01

    Epigenetic variation, such as heritable changes of DNA methylation, can affect gene expression and thus phenotypes, but examples of natural epimutations are few and little is known about their stability and frequency in nature. Here, we report that the gene Qua-Quine Starch (QQS) of Arabidopsis thaliana, which is involved in starch metabolism and that originated de novo recently, is subject to frequent epigenetic variation in nature. Specifically, we show that expression of this gene varies considerably among natural accessions as well as within populations directly sampled from the wild, and we demonstrate that this variation correlates negatively with the DNA methylation level of repeated sequences located within the 5′end of the gene. Furthermore, we provide extensive evidence that DNA methylation and expression variants can be inherited for several generations and are not linked to DNA sequence changes. Taken together, these observations provide a first indication that de novo originated genes might be particularly prone to epigenetic variation in their initial stages of formation. PMID:23593031

  10. Reproducibility of the Tronzo and AO classifications for transtrochanteric fractures☆

    PubMed Central

    Mattos, Carlos Augusto; Jesus, Alexandre Atsushi Koza; Floter, Michelle dos Santos; Nunes, Luccas Franco Bettencourt; Sanches, Bárbara de Baptista; Zabeu, José Luís Amim

    2015-01-01

    Objective To analyze the reproducibility of the Tronzo and AO classifications for transtrochanteric fractures. Method This was a cross-sectional study in which the intraobserver and interobserver concordance between two readings made by 11 observers was analyzed. The analysis of the variations used the kappa statistical method. Results Moderate concordance was found in relation to the AO classification, while slight concordance was found for the Tronzo classification. Conclusion This study found that the AO/Asif classification for transtrochanteric presented greater intra and interobserver reproducibility and that greater concordance was correlated with greater experience of the observers. Without division into subgroups, the AO/Asif classification was shown, as described in the literature, to be acceptable for clinical use in relation to transtrochanteric fractures of the femur, although it did not show absolute concordance, given that its concordance level was only moderate. Nonetheless, its concordance was better than that of the Tronzo classification. PMID:26535193

  11. LGS-AO Imaging of Every Kepler Planet Candidate: the Robo-AO KOI Survey

    NASA Astrophysics Data System (ADS)

    Law, Nicholas Michael; Baranec, Christoph; Morton, Timothy; Ziegler, Carl; Atkinson, Dani; Riddle, Reed

    2015-08-01

    The Robo-AO Kepler Planetary Candidate Survey is observing every Kepler planet candidate host star with laser adaptive optics imaging, to search for blended nearby stars which may be physically associated companions and/or responsible for transit false positives. We will present the results from searching for companions around over 3,000 Kepler planet hosts in 2012-2015. We will describe our first data release covering 715 planet candidate hosts, and give a preview of ongoing results including improved statistics on the likelihood of false positive planet detections in the Kepler dataset, many new planets in multiple star systems, and new exotic multiple star systems containing Kepler planets.We will also describe the automated Robo-AO survey data reduction methods, including a method of using the large ensemble of target observations as mutual point-spread-function references, along with a new automated companion-detection algorithm designed for extremely large adaptive optics surveys.Our first data release covered 715 objects, searching for companions from 0.15” to 2.5” separation with contrast up to 6 magnitudes. We measured the overall nearby-star-probability for Kepler planet candidates to be 7.4+/-1.0%, and we will detail the variations in this number with stellar host parameters. We will also discuss several KOIs of particular interest, including KOI-191 and KOI-1151, which are both multi-planet systems with detected stellar companions whose unusual planetary system architecture might be best explained if they are ``coincident multiple'' systems, with several transiting planets shared between the two stars. Finally, we will discuss and update the 98%-confidence evidence from our survey that third bodies in star/planet systems produce an excess of close-in giant planets.

  12. A Large-Telescope Natural Guide Star AO System

    NASA Technical Reports Server (NTRS)

    Redding, David; Milman, Mark; Needels, Laura

    1994-01-01

    None given. From overview and conclusion:Keck Telescope case study. Objectives-low cost, good sky coverage. Approach--natural guide star at 0.8um, correcting at 2.2um.Concl- Good performance is possible for Keck with natural guide star AO system (SR>0.2 to mag 17+).AO-optimized CCD should b every effective. Optimizing td is very effective.Spatial Coadding is not effective except perhaps at extreme low light levels.

  13. The face, beauty, and symmetry: perceiving asymmetry in beautiful faces.

    PubMed

    Zaidel, D W; Cohen, J A

    2005-08-01

    The relationship between bilateral facial symmetry and beauty remains to be clarified. Here, straight head-on photographs of "beautiful" faces from the collections of professional modeling agencies were selected. First, beauty ratings were obtained for these faces. Then, the authors created symmetrical left-left and right-right composites of the beautiful faces and asked a new group of subjects to choose the most attractive pair member. "Same" responses were allowed. No difference between the left-left and right-right composites was revealed but significant differences were obtained between "same" and the left-left or right-right. These results show that subjects detected asymmetry in beauty and suggest that very beautiful faces can be functionally asymmetrical. PMID:16040358

  14. Modeling Human Dynamics of Face-to-Face Interaction Networks

    NASA Astrophysics Data System (ADS)

    Starnini, Michele; Baronchelli, Andrea; Pastor-Satorras, Romualdo

    2013-04-01

    Face-to-face interaction networks describe social interactions in human gatherings, and are the substrate for processes such as epidemic spreading and gossip propagation. The bursty nature of human behavior characterizes many aspects of empirical data, such as the distribution of conversation lengths, of conversations per person, or of interconversation times. Despite several recent attempts, a general theoretical understanding of the global picture emerging from data is still lacking. Here we present a simple model that reproduces quantitatively most of the relevant features of empirical face-to-face interaction networks. The model describes agents that perform a random walk in a two-dimensional space and are characterized by an attractiveness whose effect is to slow down the motion of people around them. The proposed framework sheds light on the dynamics of human interactions and can improve the modeling of dynamical processes taking place on the ensuing dynamical social networks.

  15. SNL3dFace

    Energy Science and Technology Software Center (ESTSC)

    2007-07-20

    This software distribution contains MATLAB and C++ code to enable identity verification using 3D images that may or may not contain a texture component. The code is organized to support system performance testing and system capability demonstration through the proper configuration of the available user interface. Using specific algorithm parameters the face recognition system has been demonstrated to achieve a 96.6% verification rate (Pd) at 0.001 false alarm rate. The system computes robust facial featuresmore » of a 3D normalized face using Principal Component Analysis (PCA) and Fisher Linear Discriminant Analysis (FLDA). A 3D normalized face is obtained by alighning each face, represented by a set of XYZ coordinated, to a scaled reference face using the Iterative Closest Point (ICP) algorithm. The scaled reference face is then deformed to the input face using an iterative framework with parameters that control the deformed surface regulation an rate of deformation. A variety of options are available to control the information that is encoded by the PCA. Such options include the XYZ coordinates, the difference of each XYZ coordinates from the reference, the Z coordinate, the intensity/texture values, etc. In addition to PCA/FLDA feature projection this software supports feature matching to obtain similarity matrices for performance analysis. In addition, this software supports visualization of the STL, MRD, 2D normalized, and PCA synthetic representations in a 3D environment.« less

  16. Accuracy enhanced thermal face recognition

    NASA Astrophysics Data System (ADS)

    Lin, Chun-Fu; Lin, Sheng-Fuu

    2013-11-01

    Human face recognition has been generally researched for the last three decades. Face recognition with thermal image has begun to attract significant attention gradually since illumination of environment would not affect the recognition performance. However, the recognition performance of traditional thermal face recognizer is still insufficient in practical application. This study presents a novel thermal face recognizer employing not only thermal features but also critical facial geometric features which would not be influenced by hair style to improve the recognition performance. A three-layer back-propagation feed-forward neural network is applied as the classifier. Traditional thermal face recognizers only use the indirect information of the topography of blood vessels like thermogram as features. To overcome this limitation, the proposed thermal face recognizer can use not only the indirect information but also the direct information of the topography of blood vessels which is unique for every human. Moreover, the recognition performance of the proposed thermal features would not decrease even if the hair of frontal bone varies, the eye blinks or the nose breathes. Experimental results show that the proposed features are significantly more effective than traditional thermal features and the recognition performance of thermal face recognizer is improved.

  17. Visual adaptation and face perception

    PubMed Central

    Webster, Michael A.; MacLeod, Donald I. A.

    2011-01-01

    The appearance of faces can be strongly affected by the characteristics of faces viewed previously. These perceptual after-effects reflect processes of sensory adaptation that are found throughout the visual system, but which have been considered only relatively recently in the context of higher level perceptual judgements. In this review, we explore the consequences of adaptation for human face perception, and the implications of adaptation for understanding the neural-coding schemes underlying the visual representation of faces. The properties of face after-effects suggest that they, in part, reflect response changes at high and possibly face-specific levels of visual processing. Yet, the form of the after-effects and the norm-based codes that they point to show many parallels with the adaptations and functional organization that are thought to underlie the encoding of perceptual attributes like colour. The nature and basis for human colour vision have been studied extensively, and we draw on ideas and principles that have been developed to account for norms and normalization in colour vision to consider potential similarities and differences in the representation and adaptation of faces. PMID:21536555

  18. SNL3dFace

    SciTech Connect

    Russ, Trina; Koch, Mark; Koudelka, Melissa; Peters, Ralph; Little, Charles; Boehnen, Chris; Peters, Tanya

    2007-07-20

    This software distribution contains MATLAB and C++ code to enable identity verification using 3D images that may or may not contain a texture component. The code is organized to support system performance testing and system capability demonstration through the proper configuration of the available user interface. Using specific algorithm parameters the face recognition system has been demonstrated to achieve a 96.6% verification rate (Pd) at 0.001 false alarm rate. The system computes robust facial features of a 3D normalized face using Principal Component Analysis (PCA) and Fisher Linear Discriminant Analysis (FLDA). A 3D normalized face is obtained by alighning each face, represented by a set of XYZ coordinated, to a scaled reference face using the Iterative Closest Point (ICP) algorithm. The scaled reference face is then deformed to the input face using an iterative framework with parameters that control the deformed surface regulation an rate of deformation. A variety of options are available to control the information that is encoded by the PCA. Such options include the XYZ coordinates, the difference of each XYZ coordinates from the reference, the Z coordinate, the intensity/texture values, etc. In addition to PCA/FLDA feature projection this software supports feature matching to obtain similarity matrices for performance analysis. In addition, this software supports visualization of the STL, MRD, 2D normalized, and PCA synthetic representations in a 3D environment.

  19. Can Faces Prime a Language?

    PubMed

    Woumans, Evy; Martin, Clara D; Vanden Bulcke, Charlotte; Van Assche, Eva; Costa, Albert; Hartsuiker, Robert J; Duyck, Wouter

    2015-09-01

    Bilinguals have two languages that are activated in parallel. During speech production, one of these languages must be selected on the basis of some cue. The present study investigated whether the face of an interlocutor can serve as such a cue. Spanish-Catalan and Dutch-French bilinguals were first familiarized with certain faces, each of which was associated with only one language, during simulated Skype conversations. Afterward, these participants performed a language production task in which they generated words associated with the words produced by familiar and unfamiliar faces displayed on-screen. When responding to familiar faces, participants produced words faster if the faces were speaking the same language as in the previous Skype simulation than if the same faces were speaking a different language. Furthermore, this language priming effect disappeared when it became clear that the interlocutors were actually bilingual. These findings suggest that faces can prime a language, but their cuing effect disappears when it turns out that they are unreliable as language cues. PMID:26209531

  20. 76 FR 61103 - Draft Guidance for Industry and Food and Drug Administration Staff; De Novo Classification...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-10-03

    ... Staff; De Novo Classification Process (Evaluation of Automatic Class III Designation); Availability...) is announcing the availability of the draft guidance entitled ``De Novo Classification Process... staff and industry on the process for the submission and review of petitions submitted under the...

  1. SPACE: Vision and Reality: Face to Face. Proceedings Report

    NASA Technical Reports Server (NTRS)

    1995-01-01

    The proceedings of the 11th National Space Symposium entitled 'Vision and Reality: Face to Face' is presented. Technological areas discussed include the following sections: Vision for the future; Positioning for the future; Remote sensing, the emerging era; space opportunities, Competitive vision with acquisition reality; National security requirements in space; The world is into space; and The outlook for space. An appendice is also attached.

  2. Adaptive Color Constancy Using Faces.

    PubMed

    Bianco, Simone; Schettini, Raimondo

    2014-08-01

    In this work we design an adaptive color constancy algorithm that, exploiting the skin regions found in faces, is able to estimate and correct the scene illumination. The algorithm automatically switches from global to spatially varying color correction on the basis of the illuminant estimations on the different faces detected in the image. An extensive comparison with both global and local color constancy algorithms is carried out to validate the effectiveness of the proposed algorithm in terms of both statistical and perceptual significance on a large heterogeneous data set of RAW images containing faces. PMID:26353334

  3. Faces in the mist: illusory face and letter detection

    PubMed Central

    Rieth, Cory A.; Lee, Kang; Lui, Jiangang; Tian, Jie; Huber, David E.

    2011-01-01

    We report three behavioral experiments on the spatial characteristics evoking illusory face and letter detection. False detections made to pure noise images were analyzed using a modified reverse correlation method in which hundreds of observers rated a modest number of noise images (480) during a single session. This method was originally developed for brain imaging research, and has been used in a number of fMRI publications, but this is the first report of the behavioral classification images. In Experiment 1 illusory face detection occurred in response to scattered dark patches throughout the images, with a bias to the left visual field. This occurred despite the use of a fixation cross and expectations that faces would be centered. In contrast, illusory letter detection (Experiment 2) occurred in response to centrally positioned dark patches. Experiment 3 included an oval in all displays to spatially constrain illusory face detection. With the addition of this oval the classification image revealed an eyes/nose/mouth pattern. These results suggest that face detection is triggered by a minimal face-like pattern even when these features are not centered in visual focus. PMID:23145238

  4. De Novo duplication in Charcot-Marie-Tooth Type 1A

    SciTech Connect

    Mandich, P.; Bellone, E.; Ajmar, F.

    1996-09-01

    We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.

  5. Sm-Nd Isotopic Studies of Ureilite Novo Urei

    NASA Technical Reports Server (NTRS)

    Shih, C.-Y.; Nyquist, L. E.; Reese, Y.; Goodrich, C. A.

    2011-01-01

    Ureilites are ultramafic (harzburgitic) achondrites composed predominantly of olivine and pyroxenes, abundant carbon (graphites and shock-produced diamonds), some metal and sulfides. These rocks probably represent ultramafic mantles of differentiated parent asteroidal bodies. Age determinations of these rocks by Rb-Sr and Sm-Nd methods have been difficult because of their extremely low abundances of these parent-daughter elements. Nevertheless, Sm-Nd isochron ages were reported for Kenna, Goalpara, MET 78008 and PCA 82506 yielding ages of 3.74+/-0.02 Ga, approx.3.7 Ga, 4.09+/-0.08 Ga, 4.23+/-0.06 Ga, respectively [1-4]. These "young" Sm-Nd ages may represent secondary metasomatism events [1] related to impacts [5], as indicated by the similarly young Ar-39-Ar-40 degassing ages of 3.3-4.1 Ga for ureilites Kenna, Novo Urei and Havero [6]. Alternatively, it has been suggested that these rocks may have been contaminated with terrestrial crustal materials and the isochrons do not have any age significance [2,7]. Indications of old approx.4.56 Ga ages for ureilites were reported from the U-Pb and Sm-Nd model ages for MET 78008 [8]. More reliable evidences for old formation ages of ureilites were reported recently using the short-lived chronometers Hf-182-W-182, Al-26-Mg-26 and Mn-53-Cr-53. The deficits of 182W in ureilites suggest the metal-silicate segregation occurred very early, approx.1-2 Ma after CAI [9]. The Al-26-Mg-26 and Mn-53-Cr-53 studies for a feldspathic lithology [10] and the Mn-53-Cr-53 for olivine- and pyroxene-dominant lithologies [11] in ureilites revealed that they crystallized approx.5.4 Ma after CAI, i.e., at 4563.8+/-0.5 Ma relative to D.Orbigny. In this report, we present Sm-Nd isotopic data for a relatively fresh ureilite, Novo Urei, a rare ureilite fall (1886). We compare these data to Sm-Nd data for other ureilites, and discuss Novo Urei's petrogenesis

  6. Response assessment of NovoTTF-100A versus best physician's choice chemotherapy in recurrent glioblastoma.

    PubMed

    Wong, Eric T; Lok, Edwin; Swanson, Kenneth D; Gautam, Shiva; Engelhard, Herbert H; Lieberman, Frank; Taillibert, Sophie; Ram, Zvi; Villano, John L

    2014-06-01

    The NovoTTF-100A device emits frequency-tuned alternating electric fields that interfere with tumor cell mitosis. In phase III trial for recurrent glioblastomas, NovoTTF-100A was shown to have equivalent efficacy and less toxicity when compared to Best Physician's Choice (BPC) chemotherapy. We analyzed the characteristics of responders and nonresponders in both cohorts to determine the characteristics of response and potential predictive factors. Tumor response and progression were determined by Macdonald criteria. Time to response, response duration, progression-free survival (PFS) ± Simon-Makuch correction, overall survival (OS), prognostic factors, and relative hazard rates were compared between responders and nonresponders. Median response duration was 7.3 versus 5.6 months for NovoTTF-100A and BPC chemotherapy, respectively (P = 0.0009). Five of 14 NovoTTF-100A responders but none of seven BPC responders had prior low-grade histology. Mean cumulative dexamethasone dose was 35.9 mg for responders versus 485.6 mg for nonresponders in the NovoTTF-100A cohort (P < 0.0001). Hazard analysis showed delayed tumor progression in responders compared to nonresponders. Simon-Makuch-adjusted PFS was longer in responders than in nonresponders treated with NovoTTF-100A (P = 0.0007) or BPC chemotherapy (P = 0.0222). Median OS was longer for responders than nonresponders treated with NovoTTF-100A (P < 0.0001) and BPC chemotherapy (P = 0.0235). Pearson analysis showed strong correlation between response and OS in NovoTTF-100A (P = 0.0002) but not in BPC cohort (P = 0.2900). Our results indicate that the response characteristics favor NovoTTF-100A and data on prior low-grade histology and dexamethasone suggest potential genetic and epigenetic determinants of NovoTTF-100A response. PMID:24574359

  7. A gradient-boosting approach for filtering de novo mutations in parent–offspring trios

    PubMed Central

    Liu, Yongzhuang; Li, Bingshan; Tan, Renjie; Zhu, Xiaolin; Wang, Yadong

    2014-01-01

    Motivation: Whole-genome and -exome sequencing on parent–offspring trios is a powerful approach to identifying disease-associated genes by detecting de novo mutations in patients. Accurate detection of de novo mutations from sequencing data is a critical step in trio-based genetic studies. Existing bioinformatic approaches usually yield high error rates due to sequencing artifacts and alignment issues, which may either miss true de novo mutations or call too many false ones, making downstream validation and analysis difficult. In particular, current approaches have much worse specificity than sensitivity, and developing effective filters to discriminate genuine from spurious de novo mutations remains an unsolved challenge. Results: In this article, we curated 59 sequence features in whole genome and exome alignment context which are considered to be relevant to discriminating true de novo mutations from artifacts, and then employed a machine-learning approach to classify candidates as true or false de novo mutations. Specifically, we built a classifier, named De Novo Mutation Filter (DNMFilter), using gradient boosting as the classification algorithm. We built the training set using experimentally validated true and false de novo mutations as well as collected false de novo mutations from an in-house large-scale exome-sequencing project. We evaluated DNMFilter’s theoretical performance and investigated relative importance of different sequence features on the classification accuracy. Finally, we applied DNMFilter on our in-house whole exome trios and one CEU trio from the 1000 Genomes Project and found that DNMFilter could be coupled with commonly used de novo mutation detection approaches as an effective filtering approach to significantly reduce false discovery rate without sacrificing sensitivity. Availability: The software DNMFilter implemented using a combination of Java and R is freely available from the website at http

  8. Vitiligo on the face (image)

    MedlinePlus

    ... the face. Complete loss of melanin, the primary skin pigment, occurs for unknown reasons. The resulting lesions are white in comparison to the surrounding skin. Vitiligo may occur in the same areas on ...

  9. Covert face recognition without prosopagnosia.

    PubMed

    Ellis, H D; Young, A W; Koenken, G

    1993-01-01

    An experiment is reported where subjects were presented with familiar or unfamiliar faces for supraliminal durations or for durations individually assessed as being below the threshold for recognition. Their electrodermal responses to each stimulus were measured and the results showed higher peak amplitude skin conductance responses for familiar than for unfamiliar faces, regardless of whether they had been displayed supraliminally or subliminally. A parallel is drawn between elevated skin conductance responses to subliminal stimuli and findings of covert recognition of familiar faces in prosopagnosic patients, some of whom show increased electrodermal activity (EDA) to previously familiar faces. The supraliminal presentation data also served to replicate similar work by Tranel et al (1985). The results are considered alongside other data indicating the relation between non-conscious, "automatic" aspects of normal visual information processing and abilities which can be found to be preserved without awareness after brain injury. PMID:24487927

  10. Aging changes in the face

    MedlinePlus

    ... spots on the face increase as well. These pigment changes are largely due to sun exposure. Missing ... The colored portion of the eye (iris) loses pigment, making most very elderly people appear to have ...

  11. Carbon-Type Analysis and Comparison of Original and Reblended FACE Diesel Fuels (FACE 2, FACE 4, and FACE 7)

    SciTech Connect

    Bays, J. Timothy; King, David L.; O'Hagan, Molly J.

    2012-10-01

    This report summarizes the carbon-type analysis from 1H and 13C{1H} nuclear magnetic resonance spectroscopy (NMR) of Fuels for Advanced Combustion Engines (FACE) diesel blends, FD-2B, FD 4B, and FD-7B, and makes comparison of the new blends with the original FACE diesel blends, FD 2A, FD 4A, and FD-7A, respectively. Generally, FD-2A and FD-2B are more similar than the A and B blends of FD-4 and FD-7. The aromatic carbon content is roughly equivalent, although the new FACE blends have decreased monoaromatic content and increased di- and tri-cycloaromatic content, as well as a higher overall aromatic content, than the original FACE blends. The aromatic components of the new FACE blends generally have a higher alkyl substitution with longer alkyl substituents. The naphthenic and paraffinic contents remained relatively consistent. Based on aliphatic methyl and methylene carbon ratios, cetane numbers for FD-2A and -2B, and FD-7A and -7B are predicted to be consistent, while the cetane number for FD-4B is predicted to be higher than FD-4A. Overall, the new FACE fuel blends are fairly consistent with the original FACE fuel blends, but there are observable differences. In addition to providing important comparative compositional information on reformulated FACE diesel blends, this report also provides important information about the capabilities of the team at Pacific Northwest National Laboratory in the use of NMR spectroscopy for the detailed characterization and comparison of fuels and fuel blends.

  12. Robust Face Sketch Style Synthesis.

    PubMed

    Shengchuan Zhang; Xinbo Gao; Nannan Wang; Jie Li

    2016-01-01

    Heterogeneous image conversion is a critical issue in many computer vision tasks, among which example-based face sketch style synthesis provides a convenient way to make artistic effects for photos. However, existing face sketch style synthesis methods generate stylistic sketches depending on many photo-sketch pairs. This requirement limits the generalization ability of these methods to produce arbitrarily stylistic sketches. To handle such a drawback, we propose a robust face sketch style synthesis method, which can convert photos to arbitrarily stylistic sketches based on only one corresponding template sketch. In the proposed method, a sparse representation-based greedy search strategy is first applied to estimate an initial sketch. Then, multi-scale features and Euclidean distance are employed to select candidate image patches from the initial estimated sketch and the template sketch. In order to further refine the obtained candidate image patches, a multi-feature-based optimization model is introduced. Finally, by assembling the refined candidate image patches, the completed face sketch is obtained. To further enhance the quality of synthesized sketches, a cascaded regression strategy is adopted. Compared with the state-of-the-art face sketch synthesis methods, experimental results on several commonly used face sketch databases and celebrity photos demonstrate the effectiveness of the proposed method. PMID:26595919

  13. Real-time face tracking

    NASA Astrophysics Data System (ADS)

    Liang, Yufeng; Wilder, Joseph

    1998-10-01

    A real-time face tracker is presented in this paper. The system has achieved 15 frames/second tracking using a Pentium 200 PC with a Datacube MaxPCI image processing board and a Panasonic RGB color camera. It tracks human faces in the camera's field of view while people move freely. A stochastic model to characterize the skin color distribution of human skin is used to segment the face and other skin areas from the background. Median filtering is then used to clean up the background noise. Geometric constraints are applied to the segmented image to extract the face from the background. To reduce computation and achieve real-time tracking, 1D projections (horizontal and vertical) of the image are analyzed instead of the 2D image. Run-length- encoding and frequency domain analysis algorithms are used to separate faces from other skin-like blobs. The system is robust to illumination intensity variations and different skin colors. It can be applied to many human-computer interaction applications such as sound locating, lip- reading, gaze tracking and face recognition.

  14. Toehold Switches: De-Novo-Designed Regulators of Gene Expression

    PubMed Central

    Green, Alexander A.; Silver, Pamela A.; Collins, James J.; Yin, Peng

    2014-01-01

    SUMMARY Efforts to construct synthetic networks in living cells have been hindered by the limited number of regulatory components that provide wide dynamic range and low crosstalk. Here, we report a new class of de-novo-designed prokaryotic riboregulators called toehold switches that activate gene expression in response to cognate RNAs with arbitrary sequences. Toehold switches provide a high level of orthogonality and can be forward-engineered to provide average dynamic range above 400. We show that switches can be integrated into the genome to regulate endogenous genes and use them as sensors that respond to endogenous RNAs. We exploit the orthogonality of toehold switches to regulate 12 genes independently and to construct a genetic circuit that evaluates 4-input AND logic. Toehold switches, with their wide dynamic range, orthogonality, and programmability, represent a versatile and powerful platform for regulation of translation, offering diverse applications in molecular biology, synthetic biology, and biotechnology. PMID:25417166

  15. Neoplastic disease after liver transplantation: Focus on de novo neoplasms

    PubMed Central

    Burra, Patrizia; Rodriguez-Castro, Kryssia I

    2015-01-01

    De novo neoplasms account for almost 30% of deaths 10 years after liver transplantation and are the most common cause of mortality in patients surviving at least 1 year after transplant. The risk of malignancy is two to four times higher in transplant recipients than in an age- and sex-matched population, and cancer is expected to surpass cardiovascular complications as the primary cause of death in transplanted patients within the next 2 decades. Since exposure to immunosuppression is associated with an increased frequency of developing neoplasm, long-term immunosuppression should be therefore minimized. Promising results in the prevention of hepatocellular carcinoma (HCC) recurrence have been reported with the use of mTOR inhibitors including everolimus and sirolimus and the ongoing open-label prospective randomized controlled SILVER. Study will provide more information on whether sirolimus-containing vs mTOR-inhibitor-free immunosuppression is more efficacious in reducing HCC recurrence. PMID:26269665

  16. Herpes simplex virus 1 induces de novo phospholipid synthesis

    SciTech Connect

    Sutter, Esther; Oliveira, Anna Paula de; Tobler, Kurt; Schraner, Elisabeth M.; Sonda, Sabrina; Kaech, Andres; Lucas, Miriam S.; Ackermann, Mathias; Wild, Peter

    2012-08-01

    Herpes simplex virus type 1 capsids bud at nuclear membranes and Golgi membranes acquiring an envelope composed of phospholipids. Hence, we measured incorporation of phospholipid precursors into these membranes, and quantified changes in size of cellular compartments by morphometric analysis. Incorporation of [{sup 3}H]-choline into both nuclear and cytoplasmic membranes was significantly enhanced upon infection. [{sup 3}H]-choline was also part of isolated virions even grown in the presence of brefeldin A. Nuclei expanded early in infection. The Golgi complex and vacuoles increased substantially whereas the endoplasmic reticulum enlarged only temporarily. The data suggest that HSV-1 stimulates phospholipid synthesis, and that de novo synthesized phospholipids are inserted into nuclear and cytoplasmic membranes to i) maintain membrane integrity in the course of nuclear and cellular expansion, ii) to supply membrane constituents for envelopment of capsids by budding at nuclear membranes and Golgi membranes, and iii) to provide membranes for formation of transport vacuoles.

  17. Parent-of-origin-specific signatures of de novo mutations.

    PubMed

    Goldmann, Jakob M; Wong, Wendy S W; Pinelli, Michele; Farrah, Terry; Bodian, Dale; Stittrich, Anna B; Glusman, Gustavo; Vissers, Lisenka E L M; Hoischen, Alexander; Roach, Jared C; Vockley, Joseph G; Veltman, Joris A; Solomon, Benjamin D; Gilissen, Christian; Niederhuber, John E

    2016-08-01

    De novo mutations (DNMs) originating in gametogenesis are an important source of genetic variation. We use a data set of 7,216 autosomal DNMs with resolved parent of origin from whole-genome sequencing of 816 parent-offspring trios to investigate differences between maternally and paternally derived DNMs and study the underlying mutational mechanisms. Our results show that the number of DNMs in offspring increases not only with paternal age, but also with maternal age, and that some genome regions show enrichment for maternally derived DNMs. We identify parent-of-origin-specific mutation signatures that become more pronounced with increased parental age, pointing to different mutational mechanisms in spermatogenesis and oogenesis. Moreover, we find DNMs that are spatially clustered to have a unique mutational signature with no significant differences between parental alleles, suggesting a different mutational mechanism. Our findings provide insights into the molecular mechanisms that underlie mutagenesis and are relevant to disease and evolution in humans. PMID:27322544

  18. De-Novo Design of Antimicrobial Peptides for Plant Protection

    PubMed Central

    Zeitler, Benjamin; Herrera Diaz, Areli; Dangel, Alexandra; Thellmann, Martha; Meyer, Helge; Sattler, Michael; Lindermayr, Christian

    2013-01-01

    This work describes the de-novo design of peptides that inhibit a broad range of plant pathogens. Four structurally different groups of peptides were developed that differ in size and position of their charged and hydrophobic clusters and were assayed for their ability to inhibit bacterial growth and fungal spore germination. Several peptides are highly active at concentrations between 0,1 and 1 µg/ml against plant pathogenic bacteria, such as Pseudomonas syringae, Pectobacterium carotovorum, and Xanthomonas vesicatoria. Importantly, no hemolytic activity could be detected for these peptides at concentrations up to 200 µg/ml. Moreover, the peptides are also active after spraying on the plant surface demonstrating a possible way of application. In sum, our designed peptides represent new antimicrobial agents and with the increasing demand for antimicrobial compounds for production of “healthy” food, these peptides might serve as templates for novel antibacterial and antifungal agents. PMID:23951222

  19. De novo gene synthesis design using TmPrime software.

    PubMed

    Li, Mo-Huang; Bode, Marcus; Huang, Mo Chao; Cheong, Wai Chye; Lim, Li Shi

    2012-01-01

    This chapter presents TmPrime, a computer program to design oligonucleotide for both ligase chain reaction (LCR)- and polymerase chain reaction (PCR)-based de novo gene synthesis. The program divides a long input DNA sequence based on user-specified melting temperatures and assembly conditions, and dynamically optimizes the length of oligonucleotides to achieve homologous melting temperatures. The output reports the melting temperatures, oligonucleotide sequences, and potential formation of secondary structures in a PDF file, which will be sent to the user via e-mail. The program also provides functions on sequence pooling to separate long genes into smaller pieces for multipool assembly and codon optimization for expression based on the highest organism-specific codon frequency. This software has been successfully used in the design and synthesis of various genes with total length >20 kbp. This program is freely available at http://prime.ibn.a-star.edu.sg. PMID:22328437

  20. De novo development of artistic creativity in Alzheimer's disease

    PubMed Central

    Chakravarty, Ambar

    2011-01-01

    The case of an 82-year-old female with probable Alzheimer's disease (AD), who developed unusual artistic creativity after development of her disease, is described. The possible pathogenetic mechanism is discussed. The patient showed no inclination toward visual arts during her premorbid years. However, 4 years after development of AD suggestive symptoms she started painting beautiful pictures rather impulsively. Some such paintings have been appreciated even by a qualified art expert. Such de novo development of artistic creativity had been described earlier in subjects with the semantic form of fronto-temporal dementia (FTD), but not in AD. The prevailing concept of lateralized compromise and paradoxical functional facilitation, proposed in connection with FTD subjects, may not be applicable in AD subjects where the affection is more diffuse and more posterior in the brain. Hence, the likely pathogenetic mechanism involved in the case described may remain uncertain. Possibilities are discussed. PMID:22346020

  1. FEIBA versus NovoSeven in hemophilia patients with inhibitors.

    PubMed

    Franchini, Massimo; Coppola, Antonio; Tagliaferri, Annarita; Lippi, Giuseppe

    2013-10-01

    The management of patients with congenital hemophilia who develop alloantibodies that neutralize coagulation factor activity is the most important challenge for hemophilia care providers because this complication renders replacement treatment with factor concentrates partially or completely ineffective, exposing the patients to an increased risk of morbidity and mortality. Development of inhibitors complicates the clinical course of severe hemophilia in up to 30% of patients with hemophilia A and up to 5% of those with hemophilia B. Although the ultimate goal of treatment of patients with alloantibodies against factors VIII and IX is eradication of the inhibitor, the control of bleeding through high doses of factor concentrates (low titer inhibitors) or bypassing agents (high titer inhibitors) is the mainstay of management of these patients. In this review, we summarize the main characteristics of the bypassing agents FEIBA and NovoSeven, briefly discussing available literature data, and in particular, focusing on comparative studies. PMID:24014071

  2. De novo synthesis of a sunscreen compound in vertebrates.

    PubMed

    Osborn, Andrew R; Almabruk, Khaled H; Holzwarth, Garrett; Asamizu, Shumpei; LaDu, Jane; Kean, Kelsey M; Karplus, P Andrew; Tanguay, Robert L; Bakalinsky, Alan T; Mahmud, Taifo

    2015-01-01

    Ultraviolet-protective compounds, such as mycosporine-like amino acids (MAAs) and related gadusols produced by some bacteria, fungi, algae, and marine invertebrates, are critical for the survival of reef-building corals and other marine organisms exposed to high-solar irradiance. These compounds have also been found in marine fish, where their accumulation is thought to be of dietary or symbiont origin. In this study, we report the unexpected discovery that fish can synthesize gadusol de novo and that the analogous pathways are also present in amphibians, reptiles, and birds. Furthermore, we demonstrate that engineered yeast containing the fish genes can produce and secrete gadusol. The discovery of the gadusol pathway in vertebrates provides a platform for understanding its role in these animals, and the possibility of engineering yeast to efficiently produce a natural sunscreen and antioxidant presents an avenue for its large-scale production for possible use in pharmaceuticals and cosmetics. PMID:25965179

  3. Ray Meta: scalable de novo metagenome assembly and profiling

    PubMed Central

    2012-01-01

    Voluminous parallel sequencing datasets, especially metagenomic experiments, require distributed computing for de novo assembly and taxonomic profiling. Ray Meta is a massively distributed metagenome assembler that is coupled with Ray Communities, which profiles microbiomes based on uniquely-colored k-mers. It can accurately assemble and profile a three billion read metagenomic experiment representing 1,000 bacterial genomes of uneven proportions in 15 hours with 1,024 processor cores, using only 1.5 GB per core. The software will facilitate the processing of large and complex datasets, and will help in generating biological insights for specific environments. Ray Meta is open source and available at http://denovoassembler.sf.net. PMID:23259615

  4. De novo assembly of a haplotype-resolved human genome.

    PubMed

    Cao, Hongzhi; Wu, Honglong; Luo, Ruibang; Huang, Shujia; Sun, Yuhui; Tong, Xin; Xie, Yinlong; Liu, Binghang; Yang, Hailong; Zheng, Hancheng; Li, Jian; Li, Bo; Wang, Yu; Yang, Fang; Sun, Peng; Liu, Siyang; Gao, Peng; Huang, Haodong; Sun, Jing; Chen, Dan; He, Guangzhu; Huang, Weihua; Huang, Zheng; Li, Yue; Tellier, Laurent C A M; Liu, Xiao; Feng, Qiang; Xu, Xun; Zhang, Xiuqing; Bolund, Lars; Krogh, Anders; Kristiansen, Karsten; Drmanac, Radoje; Drmanac, Snezana; Nielsen, Rasmus; Li, Songgang; Wang, Jian; Yang, Huanming; Li, Yingrui; Wong, Gane Ka-Shu; Wang, Jun

    2015-06-01

    The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine. PMID:26006006

  5. Beyond the Blur: Construction and Characterization of the First Autonomous AO System, and, An AO Survey of Magnetar Proper Motions

    NASA Astrophysics Data System (ADS)

    Tendulkar, Shriharsh Prakash

    Adaptive optics (AO) corrects distortions created by atmospheric turbulence and delivers diffraction-limited images on ground-based telescopes. The vastly improved spatial resolution and sensitivity has been utilized for studying everything from the magnetic fields of sunspots upto the internal dynamics of high-redshift galaxies. This thesis about AO science from small and large telescopes is divided into two parts: Robo-AO and magnetar kinematics. In the first part, I discuss the construction and performance of the world's first fully autonomous visible light AO system, Robo-AO, at the Palomar 60-inch telescope. Robo-AO operates extremely efficiently with an overhead < 50s, typically observing about 22 targets every hour. We have performed large AO programs observing a total of over 7,500 targets since May 2012. In the visible band, the images have a Strehl ratio of about 10% and achieve a contrast of upto 6 magnitudes at a separation of 1‧‧. The full-width at half maximum achieved is 110-130 milli-arcsecond. I describe how Robo-AO is used to constrain the evolutionary models of low-mass pre-main-sequence stars by measuring resolved spectral energy distributions of stellar multiples in the visible band, more than doubling the current sample. I conclude this part with a discussion of possible future improvements to the Robo-AO system. In the second part, I describe a study of magnetar kinematics using high-resolution near-infrared (NIR) AO imaging from the 10-meter Keck II telescope. Measuring the proper motions of five magnetars with a precision of upto 0.7 milli-arcsecond/yr -1, we have more than tripled the previously known sample of magnetar proper motions and proved that magnetar kinematics are equivalent to those of radio pulsars. We conclusively showed that SGR 1900+14 and SGR 1806-20 were ejected from the stellar clusters with which they were traditionally associated. The inferred kinematic ages of these two magnetars are 6 +/- 1.8 kyr and 650 +/-3 00

  6. De novo design of the hydrophobic cores of proteins.

    PubMed Central

    Desjarlais, J. R.; Handel, T. M.

    1995-01-01

    We have developed and experimentally tested a novel computational approach for the de novo design of hydrophobic cores. A pair of computer programs has been written, the first of which creates a "custom" rotamer library for potential hydrophobic residues, based on the backbone structure of the protein of interest. The second program uses a genetic algorithm to globally optimize for a low energy core sequence and structure, using the custom rotamer library as input. Success of the programs in predicting the sequences of native proteins indicates that they should be effective tools for protein design. Using these programs, we have designed and engineered several variants of the phage 434 cro protein, containing five, seven, or eight sequence changes in the hydrophobic core. As controls, we have produced a variant consisting of a randomly generated core with six sequence changes but equal volume relative to the native core and a variant with a "minimalist" core containing predominantly leucine residues. Two of the designs, including one with eight core sequence changes, have thermal stabilities comparable to the native protein, whereas the third design and the minimalist protein are significantly destabilized. The randomly designed control is completely unfolded under equivalent conditions. These results suggest that rational de novo design of hydrophobic cores is feasible, and stress the importance of specific packing interactions for the stability of proteins. A surprising aspect of the results is that all of the variants display highly cooperative thermal denaturation curves and reasonably dispersed NMR spectra. This suggests that the non-core residues of a protein play a significant role in determining the uniqueness of the folded structure. PMID:8535237

  7. Myocardial ischemic reperfusion induces de novo Nrf2 protein translation

    PubMed Central

    Xu, Beibei; Zhang, Jack; Strom, Joshua; Lee, Sang; Chen, Qin M.

    2016-01-01

    Nrf2 is a bZIP transcription factor regulating the expression of antioxidant and detoxification genes. We have found that Nrf2 knockout mice have an increased infarction size in response to regional ischemic reperfusion and have a reduced degree of cardiac protection by means of ischemic preconditioning. With cycles of brief ischemia and reperfusion (5′I/5′R) that induce cardiac protection in wild type mice, an elevated Nrf2 protein was observed without prior increases of Nrf2 mRNA. When an mRNA species is being translated into a protein, it is occupied by multiple ribosomes. The level of ribosome-associated Nrf2 mRNA increased following cycles of 5′I/5′R, supporting de novo Nrf2 protein translation. A dicistronic reporter assay indicated a role of the 5′ untranslated region (5′ UTR) of Nrf2 mRNA in oxidative stress induced Nrf2 protein translation in isolated cardiomyocytes. Western blot analyses after isolation of proteins binding to biotinylated Nrf2 5′ UTR from the myocardium or cultured cardiomyocytes demonstrated that cycles of 5′I/5′R or oxidants caused an increased association of La protein with Nrf2 5′ UTR. Ribonucleoprotein complex immunoprecipitation assays confirmed such association indeed occurring in vivo. Knocking down La using siRNA was able to prevent Nrf2 protein elevation by oxidants in cultured cardiomyocytes and by cycles of 5′I/5′R in the myocardium. Our data point out a novel mechanism of cardiac protection by de novo Nrf2 protein translation involving interaction of La protein with 5′ UTR of Nrf2 mRNA in cardiomyocytes. PMID:24915518

  8. De novo mutations in moderate or severe intellectual disability.

    PubMed

    Hamdan, Fadi F; Srour, Myriam; Capo-Chichi, Jose-Mario; Daoud, Hussein; Nassif, Christina; Patry, Lysanne; Massicotte, Christine; Ambalavanan, Amirthagowri; Spiegelman, Dan; Diallo, Ousmane; Henrion, Edouard; Dionne-Laporte, Alexandre; Fougerat, Anne; Pshezhetsky, Alexey V; Venkateswaran, Sunita; Rouleau, Guy A; Michaud, Jacques L

    2014-10-01

    Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corresponding genes remain largely unknown. Here, we report a screen for DNMs in subjects with moderate or severe ID. We sequenced the exomes of 41 probands and their parents, and confirmed 81 DNMs affecting the coding sequence or consensus splice sites (1.98 DNMs/proband). We observed a significant excess of de novo single nucleotide substitutions and loss-of-function mutations in these cases compared to control subjects, suggesting that at least a subset of these variations are pathogenic. A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of ∼29%. We also identified 12 possibly pathogenic DNMs in genes (HNRNPU, WAC, RYR2, SET, EGR1, MYH10, EIF2C1, COL4A3BP, CHMP2A, PPP1CB, VPS4A, PPP2R2B) that have not previously been causally linked to ID. Interestingly, no case was explained by inherited mutations. Protein network analysis indicated that the products of many of these known and candidate genes interact with each other or with products of other ID-associated genes further supporting their involvement in ID. We conclude that DNMs represent a major cause of moderate or severe ID. PMID:25356899

  9. Genome-wide characteristics of de novo mutations in autism

    PubMed Central

    Yuen, Ryan K C; Merico, Daniele; Cao, Hongzhi; Pellecchia, Giovanna; Alipanahi, Babak; Thiruvahindrapuram, Bhooma; Tong, Xin; Sun, Yuhui; Cao, Dandan; Zhang, Tao; Wu, Xueli; Jin, Xin; Zhou, Ze; Liu, Xiaomin; Nalpathamkalam, Thomas; Walker, Susan; Howe, Jennifer L.; Wang, Zhuozhi; MacDonald, Jeffrey R.; Chan, Ada; D’Abate, Lia; Deneault, Eric; Siu, Michelle T.; Tammimies, Kristiina; Uddin, Mohammed; Zarrei, Mehdi; Wang, Mingbang; Li, Yingrui; Wang, Jun; Wang, Jian; Yang, Huanming; Bookman, Matt; Bingham, Jonathan; Gross, Samuel S.; Loy, Dion; Pletcher, Mathew; Marshall, Christian R.; Anagnostou, Evdokia; Zwaigenbaum, Lonnie; Weksberg, Rosanna; Fernandez, Bridget A; Roberts, Wendy; Szatmari, Peter; Glazer, David; Frey, Brendan J.; Ring, Robert H.; Xu, Xun; Scherer, Stephen W.

    2016-01-01

    De novo mutations (DNMs) are important in Autism Spectrum Disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole genome sequencing (WGS) of 200 ASD parent-child trios and characterized germline and somatic DNMs. We confirmed that the majority of germline DNMs (75.6%) originated from the father, and these increased significantly with paternal age only (p=4.2×10−10). However, when clustered DNMs (those within 20kb) were found in ASD, not only did they mostly originate from the mother (p=7.7×10−13), but they could also be found adjacent to de novo copy number variations (CNVs) where the mutation rate was significantly elevated (p=2.4×10−24). By comparing DNMs detected in controls, we found a significant enrichment of predicted damaging DNMs in ASD cases (p=8.0×10−9; OR=1.84), of which 15.6% (p=4.3×10−3) and 22.5% (p=7.0×10−5) were in the non-coding or genic non-coding, respectively. The non-coding elements most enriched for DNM were untranslated regions of genes, boundaries involved in exon-skipping and DNase I hypersensitive regions. Using microarrays and a novel outlier detection test, we also found aberrant methylation profiles in 2/185 (1.1%) of ASD cases. These same individuals carried independently identified DNMs in the ASD risk- and epigenetic- genes DNMT3A and ADNP. Our data begins to characterize different genome-wide DNMs, and highlight the contribution of non-coding variants, to the etiology of ASD. PMID:27525107

  10. Donor transmitted and de novo cancer after liver transplantation.

    PubMed

    Desai, Rajeev; Neuberger, James

    2014-05-28

    Cancers in solid organ recipients may be classified as donor transmitted, donor derived, de novo or recurrent. The risk of donor-transmitted cancer is very low and can be reduced by careful screening of the donor but cannot be abolished and, in the United Kingdom series is less than 0.03%. For donors with a known history of cancer, the risks will depend on the nature of the cancer, the interventions given and the interval between diagnosis and organ donation. The risks of cancer transmission must be balanced against the risks of death awaiting a new graft and strict adherence to current guidelines may result increased patient death. Organs from selected patients, even with high-grade central nervous system (CNS) malignancy and after a shunt, can, in some circumstances, be considered. Of potential donors with non-CNS cancers, whether organs may be safely used again depends on the nature of the cancer, the treatment and interval. Data are scarce about the most appropriate treatment when donor transmitted cancer is diagnosed: sometimes substitution of agents and reduction of the immunosuppressive load may be adequate and the impact of graft removal should be considered but not always indicated. Liver allograft recipients are at increased risk of some de novo cancers, especially those grafted for alcohol-related liver disease and hepatitis C virus infection. The risk of lymphoproliferative disease and cancers of the skin, upper airway and bowel are increased but not breast. Recipients should be advised to avoid risk behavior and monitored appropriately. PMID:24876738

  11. De Novo Mutations in Moderate or Severe Intellectual Disability

    PubMed Central

    Hamdan, Fadi F.; Srour, Myriam; Capo-Chichi, Jose-Mario; Daoud, Hussein; Nassif, Christina; Patry, Lysanne; Massicotte, Christine; Ambalavanan, Amirthagowri; Spiegelman, Dan; Diallo, Ousmane; Henrion, Edouard; Dionne-Laporte, Alexandre; Fougerat, Anne; Pshezhetsky, Alexey V.; Venkateswaran, Sunita; Rouleau, Guy A.; Michaud, Jacques L.

    2014-01-01

    Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corresponding genes remain largely unknown. Here, we report a screen for DNMs in subjects with moderate or severe ID. We sequenced the exomes of 41 probands and their parents, and confirmed 81 DNMs affecting the coding sequence or consensus splice sites (1.98 DNMs/proband). We observed a significant excess of de novo single nucleotide substitutions and loss-of-function mutations in these cases compared to control subjects, suggesting that at least a subset of these variations are pathogenic. A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of ∼29%. We also identified 12 possibly pathogenic DNMs in genes (HNRNPU, WAC, RYR2, SET, EGR1, MYH10, EIF2C1, COL4A3BP, CHMP2A, PPP1CB, VPS4A, PPP2R2B) that have not previously been causally linked to ID. Interestingly, no case was explained by inherited mutations. Protein network analysis indicated that the products of many of these known and candidate genes interact with each other or with products of other ID-associated genes further supporting their involvement in ID. We conclude that DNMs represent a major cause of moderate or severe ID. PMID:25356899

  12. Semantic Learning Modifies Perceptual Face Processing

    ERIC Educational Resources Information Center

    Heisz, Jennifer J.; Shedden, Judith M.

    2009-01-01

    Face processing changes when a face is learned with personally relevant information. In a five-day learning paradigm, faces were presented with rich semantic stories that conveyed personal information about the faces. Event-related potentials were recorded before and after learning during a passive viewing task. When faces were novel, we observed…

  13. Photoreceptor counting and montaging of en-face retinal images from an adaptive optics fundus camera

    NASA Astrophysics Data System (ADS)

    Xue, Bai; Choi, Stacey S.; Doble, Nathan; Werner, John S.

    2007-05-01

    A fast and efficient method for quantifying photoreceptor density in images obtained with an en-face flood-illuminated adaptive optics (AO) imaging system is described. To improve accuracy of cone counting, en-face images are analyzed over extended areas. This is achieved with two separate semiautomated algorithms: (1) a montaging algorithm that joins retinal images with overlapping common features without edge effects and (2) a cone density measurement algorithm that counts the individual cones in the montaged image. The accuracy of the cone density measurement algorithm is high, with >97% agreement for a simulated retinal image (of known density, with low contrast) and for AO images from normal eyes when compared with previously reported histological data. Our algorithms do not require spatial regularity in cone packing and are, therefore, useful for counting cones in diseased retinas, as demonstrated for eyes with Stargardt's macular dystrophy and retinitis pigmentosa.

  14. Eye tracking unconscious face-to-face confrontations: dominance motives prolong gaze to masked angry faces.

    PubMed

    Terburg, David; Hooiveld, Nicole; Aarts, Henk; Kenemans, J Leon; van Honk, Jack

    2011-03-01

    In primates, dominance/submission relationships are generally automatically and nonaggressively established in face-to-face confrontations. Researchers have argued that this process involves an explicit psychological stress-manipulation mechanism: Striding with a threatening expression, while keeping direct eye contact, outstresses rivals so that they submissively avert their gaze. In contrast, researchers have proposed a reflexive and implicit modulation of face-to-face confrontation in humans, on the basis of evidence that dominant and submissive individuals exhibit vigilant and avoidant responses, respectively, to facial anger in masked emotional Stroop tasks. However, these tasks do not provide an ecologically valid index of gaze behavior. Therefore, we directly measured gaze responses to masked angry, happy, and neutral facial expressions with a saccade-latency paradigm and found that increased dominance traits predict a more prolonged gaze to (or reluctance to avert gaze from) masked anger. Furthermore, greater non-dominance-related reward sensitivity predicts more persistent gaze to masked happiness. These results strongly suggest that implicit and reflexive mechanisms underlie dominant and submissive gaze behavior in face-to-face confrontations. PMID:21303993

  15. On the Origin of De Novo Genes in Arabidopsis thaliana Populations.

    PubMed

    Li, Zi-Wen; Chen, Xi; Wu, Qiong; Hagmann, Jörg; Han, Ting-Shen; Zou, Yu-Pan; Ge, Song; Guo, Ya-Long

    2016-01-01

    De novo genes, which originate from ancestral nongenic sequences, are one of the most important sources of protein-coding genes. This origination process is crucial for the adaptation of organisms. However, how de novo genes arise and become fixed in a population or species remains largely unknown. Here, we identified 782 de novo genes from the model plant Arabidopsis thaliana and divided them into three types based on the availability of translational evidence, transcriptional evidence, and neither transcriptional nor translational evidence for their origin. Importantly, by integrating multiple types of omics data, including data from genomes, epigenomes, transcriptomes, and translatomes, we found that epigenetic modifications (DNA methylation and histone modification) play an important role in the origination process of de novo genes. Intriguingly, using the transcriptomes and methylomes from the same population of 84 accessions, we found that de novo genes that are transcribed in approximately half of the total accessions within the population are highly methylated, with lower levels of transcription than those transcribed at other frequencies within the population. We hypothesized that, during the origin of de novo gene alleles, those neutralized to low expression states via DNA methylation have relatively high probabilities of spreading and becoming fixed in a population. Our results highlight the process underlying the origin of de novo genes at the population level, as well as the importance of DNA methylation in this process. PMID:27401176

  16. On the Origin of De Novo Genes in Arabidopsis thaliana Populations

    PubMed Central

    Li, Zi-Wen; Chen, Xi; Wu, Qiong; Hagmann, Jörg; Han, Ting-Shen; Zou, Yu-Pan; Ge, Song; Guo, Ya-Long

    2016-01-01

    De novo genes, which originate from ancestral nongenic sequences, are one of the most important sources of protein-coding genes. This origination process is crucial for the adaptation of organisms. However, how de novo genes arise and become fixed in a population or species remains largely unknown. Here, we identified 782 de novo genes from the model plant Arabidopsis thaliana and divided them into three types based on the availability of translational evidence, transcriptional evidence, and neither transcriptional nor translational evidence for their origin. Importantly, by integrating multiple types of omics data, including data from genomes, epigenomes, transcriptomes, and translatomes, we found that epigenetic modifications (DNA methylation and histone modification) play an important role in the origination process of de novo genes. Intriguingly, using the transcriptomes and methylomes from the same population of 84 accessions, we found that de novo genes that are transcribed in approximately half of the total accessions within the population are highly methylated, with lower levels of transcription than those transcribed at other frequencies within the population. We hypothesized that, during the origin of de novo gene alleles, those neutralized to low expression states via DNA methylation have relatively high probabilities of spreading and becoming fixed in a population. Our results highlight the process underlying the origin of de novo genes at the population level, as well as the importance of DNA methylation in this process. PMID:27401176

  17. Role of de novo biosynthesis in ecosystem scale monoterpene emissions from a boreal Scots pine forest

    NASA Astrophysics Data System (ADS)

    Taipale, R.; Kajos, M. K.; Patokoski, J.; Rantala, P.; Ruuskanen, T. M.; Rinne, J.

    2011-08-01

    Monoterpene emissions from Scots pine have traditionally been assumed to originate as evaporation from specialized storage pools. More recently, the significance of de novo emissions, originating directly from monoterpene biosynthesis, has been recognized. To study the role of biosynthesis at the ecosystem scale, we measured monoterpene emissions from a Scots pine dominated forest in southern Finland using the disjunct eddy covariance method combined with proton transfer reaction mass spectrometry. The interpretation of the measurements was based on a correlation analysis and a hybrid emission algorithm describing both de novo and pool emissions. During the measurement period May-August 2007, the monthly medians of daytime emissions were 200, 290, 180, and 200 μg m-2 h-1. The emissions were partly light dependent, probably due to de novo biosynthesis. The emission potential for both de novo and pool emissions exhibited a decreasing summertime trend. The ratio of the de novo emission potential to the total emission potential varied between 30 % and 46 %. Although the monthly changes were not significant, the ratio always differed statistically from zero, suggesting that the role of de novo biosynthesis was observable. Given the uncertainties in this study, we conclude that more accurate estimates of the contribution of de novo emissions are required for improving monoterpene emission algorithms for Scots pine dominated forests.

  18. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

    PubMed Central

    Acuna-Hidalgo, Rocio; Bo, Tan; Kwint, Michael P.; van de Vorst, Maartje; Pinelli, Michele; Veltman, Joris A.; Hoischen, Alexander; Vissers, Lisenka E.L.M.; Gilissen, Christian

    2015-01-01

    De novo mutations are recognized both as an important source of genetic variation and as a prominent cause of sporadic disease in humans. Mutations identified as de novo are generally assumed to have occurred during gametogenesis and, consequently, to be present as germline events in an individual. Because Sanger sequencing does not provide the sensitivity to reliably distinguish somatic from germline mutations, the proportion of de novo mutations that occur somatically rather than in the germline remains largely unknown. To determine the contribution of post-zygotic events to de novo mutations, we analyzed a set of 107 de novo mutations in 50 parent-offspring trios. Using four different sequencing techniques, we found that 7 (6.5%) of these presumed germline de novo mutations were in fact present as mosaic mutations in the blood of the offspring and were therefore likely to have occurred post-zygotically. Furthermore, genome-wide analysis of “de novo” variants in the proband led to the identification of 4/4,081 variants that were also detectable in the blood of one of the parents, implying parental mosaicism as the origin of these variants. Thus, our results show that an important fraction of de novo mutations presumed to be germline in fact occurred either post-zygotically in the offspring or were inherited as a consequence of low-level mosaicism in one of the parents. PMID:26054435

  19. Atypical face gaze in autism.

    PubMed

    Trepagnier, Cheryl; Sebrechts, Marc M; Peterson, Rebecca

    2002-06-01

    An eye-tracking study of face and object recognition was conducted to clarify the character of face gaze in autistic spectrum disorders. Experimental participants were a group of individuals diagnosed with Asperger's disorder or high-functioning autistic disorder according to their medical records and confirmed by the Autism Diagnostic Interview-Revised (ADI-R). Controls were selected on the basis of age, gender, and educational level to be comparable to the experimental group. In order to maintain attentional focus, stereoscopic images were presented in a virtual reality (VR) headset in which the eye-tracking system was installed. Preliminary analyses show impairment in face recognition, in contrast with equivalent and even superior performance in object recognition among participants with autism-related diagnoses, relative to controls. Experimental participants displayed less fixation on the central face than did control-group participants. The findings, within the limitations of the small number of subjects and technical difficulties encountered in utilizing the helmet-mounted display, suggest an impairment in face processing on the part of the individuals in the experimental group. This is consistent with the hypothesis of disruption in the first months of life, a period that may be critical to typical social and cognitive development, and has important implications for selection of appropriate targets of intervention. PMID:12123243

  20. Face recognition for uncontrolled environments

    NASA Astrophysics Data System (ADS)

    Podilchuk, Christine; Hulbert, William; Flachsbart, Ralph; Barinov, Lev

    2010-04-01

    A new face recognition algorithm has been proposed which is robust to variations in pose, expression, illumination and occlusions such as sunglasses. The algorithm is motivated by the Edit Distance used to determine the similarity between strings of one dimensional data such as DNA and text. The key to this approach is how to extend the concept of an Edit Distance on one-dimensional data to two-dimensional image data. The algorithm is based on mapping one image into another and using the characteristics of the mapping to determine a two-dimensional Pictorial-Edit Distance or P-Edit Distance. We show how the properties of the mapping are similar to insertion, deletion and substitution errors defined in an Edit Distance. This algorithm is particularly well suited for face recognition in uncontrolled environments such as stand-off and other surveillance applications. We will describe an entire system designed for face recognition at a distance including face detection, pose estimation, multi-sample fusion of video frames and identification. Here we describe how the algorithm is used for face recognition at a distance, present some initial results and describe future research directions.(

  1. Ethnicity identification from face images

    NASA Astrophysics Data System (ADS)

    Lu, Xiaoguang; Jain, Anil K.

    2004-08-01

    Human facial images provide the demographic information, such as ethnicity and gender. Conversely, ethnicity and gender also play an important role in face-related applications. Image-based ethnicity identification problem is addressed in a machine learning framework. The Linear Discriminant Analysis (LDA) based scheme is presented for the two-class (Asian vs. non-Asian) ethnicity classification task. Multiscale analysis is applied to the input facial images. An ensemble framework, which integrates the LDA analysis for the input face images at different scales, is proposed to further improve the classification performance. The product rule is used as the combination strategy in the ensemble. Experimental results based on a face database containing 263 subjects (2,630 face images, with equal balance between the two classes) are promising, indicating that LDA and the proposed ensemble framework have sufficient discriminative power for the ethnicity classification problem. The normalized ethnicity classification scores can be helpful in the facial identity recognition. Useful as a "soft" biometric, face matching scores can be updated based on the output of ethnicity classification module. In other words, ethnicity classifier does not have to be perfect to be useful in practice.

  2. High-Performance CCSDS AOS Protocol Implementation in FPGA

    NASA Technical Reports Server (NTRS)

    Clare, Loren P.; Torgerson, Jordan L.; Pang, Jackson

    2010-01-01

    The Consultative Committee for Space Data Systems (CCSDS) Advanced Orbiting Systems (AOS) space data link protocol provides a framing layer between channel coding such as LDPC (low-density parity-check) and higher-layer link multiplexing protocols such as CCSDS Encapsulation Service, which is described in the following article. Recent advancement in RF modem technology has allowed multi-megabit transmission over space links. With this increase in data rate, the CCSDS AOS protocol implementation needs to be optimized to both reduce energy consumption and operate at a high rate.

  3. Initial Performance of the Keck AO Wavefront Controller System

    SciTech Connect

    Johansson, E M; Acton, D S; An, J R; Avicola, K; Beeman, B V; Brase, J M; Carrano, C J; Gathright, J; Gavel, D T; Hurd, R L; Lai, O; Lupton, W; Macintosh, B A; Max, C E; Olivier, S S; Shelton, J C; Stomski, P J; Tsubota, K; Waltjen, K E; Watson, J A; Wizinowich, P L

    2001-03-01

    The wavefront controller for the Keck Observatory AO system consists of two separate real-time control loops: a tip-tilt control loop to remove tilt from the incoming wavefront, and a deformable mirror control loop to remove higher-order aberrations. In this paper, we describe these control loops and analyze their performance using diagnostic data acquired during the integration and testing of the AO system on the telescope. Disturbance rejection curves for the controllers are calculated from the experimental data and compared to theory. The residual wavefront errors due to control loop bandwidth are also calculated from the data, and possible improvements to the controller performance are discussed.

  4. LDEF (Prelaunch), AO201 : Interplanetary Dust Experiment, Tray B12

    NASA Technical Reports Server (NTRS)

    1984-01-01

    LDEF (Prelaunch), AO201 : Interplanetary Dust Experiment, Tray B12 The prelaunch photograph shows the six (6) inch deep Interplanetary Dust Experiment (IDE) master control tray. The tray has three (3) mounting/cover plates elevated on fiberglass stand-offs to provide clearance and protection for hardware and electronics located underneath. The stand-offs also raise the plates to a level that minimizes shading of detectors by the tray sidewalls. The mounting plate located at the left hand end of the tray is populated with eighty (80) metaloxide-silicon (MOS) capacitor-type impact sensors and one (1) solar sensor that is located approximately in the center of the mounting plate. The IDE sensors are two (2) inch diameter MOS capacitor structures approximately 250 um thick. The detectors are formed by growing either 0.4um or 1.0um thick silicon oxide, SiO2, layer on the 250um thick, B-doped polished silicon wafer. The top metal contact, the visible surface, was formed by vapor deposition of 1000A of aluminum on the SiO2 surface. Aluminum was also vapor deposited on the backside to form the contact with the silicon substrate. Gold wires are bonded to the front and back aluminum layers for use in connecting the detectors to the circuits. The complete wafers, IDE detectors, are mounted on chromic anodized aluminum frames by bonding the detector backside to the aluminum frame with a space qualified RTV silicon adhesive, de-volatized RTV-511. The difference in colors of the detectors is caused by reflections in the metallized surfaces. A reflection of one of the technicians is visible in the three (3) rows of detector on the left hand side of the mounting plate. The solar sensor, located at the mounting plate center, consist of four (4) silicon solar cells connected in series and associated circuity bonded to an aluminum baseplate. The solar sensor registered each orbital sunrise independant of LDEF orientation at the time of sunrise. When IDE solar sensor data from the six

  5. Startle modulation by affective faces

    PubMed Central

    Anokhin, Andrey P.; Golosheykin, Simon

    2009-01-01

    Startle reflex modulation by affective pictures is a well-established effect in human emotion research. However, much less is known about startle modulation by affective faces, despite the growing evidence that facial expressions robustly activate emotion-related brain circuits. In this study, acoustic startle probes were administered to 33 young adult participants (16 women) during the viewing of slides from the Pictures of Facial Affect set including neutral, happy, angry, and fearful faces. The effect of expression valence (happy, neutral, negative) on startle magnitude was highly significant (p<.001). Startle reflex was strongly potentiated by negative expressions (fearful and angry), however, no attenuation by happy faces was observed. A significant valence by gender interaction suggests stronger startle potentiation effects in females. These results demonstrate that affective facial expressions can produce significant modulation of the startle reflex. PMID:19833169

  6. Empirical temporal networks of face-to-face human interactions

    NASA Astrophysics Data System (ADS)

    Barrat, A.; Cattuto, C.; Colizza, V.; Gesualdo, F.; Isella, L.; Pandolfi, E.; Pinton, J.-F.; Ravà, L.; Rizzo, C.; Romano, M.; Stehlé, J.; Tozzi, A. E.; Van den Broeck, W.

    2013-09-01

    The ever increasing adoption of mobile technologies and ubiquitous services allows to sense human behavior at unprecedented level of details and scale. Wearable sensors, in particular, open up a new window on human mobility and proximity in a variety of indoor environments. Here we review stylized facts on the structural and dynamical properties of empirical networks of human face-to-face proximity, measured in three different real-world contexts: an academic conference, a hospital ward, and a museum exhibition. First, we discuss the structure of the aggregated contact networks, that project out the detailed ordering of contact events while preserving temporal heterogeneities in their weights. We show that the structural properties of aggregated networks highlight important differences and unexpected similarities across contexts, and discuss the additional complexity that arises from attributes that are typically associated with nodes in real-world interaction networks, such as role classes in hospitals. We then consider the empirical data at the finest level of detail, i.e., we consider time-dependent networks of face-to-face proximity between individuals. To gain insights on the effects that causal constraints have on spreading processes, we simulate the dynamics of a simple susceptible-infected model over the empirical time-resolved contact data. We show that the spreading pathways for the epidemic process are strongly affected by the temporal structure of the network data, and that the mere knowledge of static aggregated networks leads to erroneous conclusions about the transmission paths on the corresponding dynamical networks.

  7. Online and Face-to-Face Training: A Cost Matrix

    ERIC Educational Resources Information Center

    Jeffcoat Bartley, Sharon; Golek, Jennifer H.

    2004-01-01

    Online instruction gains an increasing presence due to associated benefits, including the ability to disregard geographical and time constraints, and the belief that online training is more cost efficient. This paper provides a discussion of issues to be faced by HRD professionals who intend to move the training environment online in response to…

  8. Anatomically accurate individual face modeling.

    PubMed

    Zhang, Yu; Prakash, Edmond C; Sung, Eric

    2003-01-01

    This paper presents a new 3D face model of a specific person constructed from the anatomical perspective. By exploiting the laser range data, a 3D facial mesh precisely representing the skin geometry is reconstructed. Based on the geometric facial mesh, we develop a deformable multi-layer skin model. It takes into account the nonlinear stress-strain relationship and dynamically simulates the non-homogenous behavior of the real skin. The face model also incorporates a set of anatomically-motivated facial muscle actuators and underlying skull structure. Lagrangian mechanics governs the facial motion dynamics, dictating the dynamic deformation of facial skin in response to the muscle contraction. PMID:15455936

  9. Penetrating injuries of the face.

    PubMed

    Gaboriau, H P; Kreutziger, K L

    1998-01-01

    In dealing with gunshot wounds to the face, the emergency department physician should have a basic knowledge of ballistics. Securing an airway (either intubation or surgical airway) should be the top priority. The location of the wound dictates which patient should be intubated. Plain x-ray films of the face and skull, as well as CT scan in certain situations, allow determination of the extent of damages to the skeleton as well as intracranial injuries. Clinical symptoms suggesting an underlying vascular injury require an angiogram. After thorough debridement of the wounds, fractures are treated either with open-reduction and internal fixation or closed-reduction and intermaxillary fixation. PMID:9448378

  10. A Comparison of Online and Face-to-Face Approaches to Teaching Introduction to American Government

    ERIC Educational Resources Information Center

    Bolsen, Toby; Evans, Michael; Fleming, Anna McCaghren

    2016-01-01

    This article reports results from a large study comparing four different approaches to teaching Introduction to American Government: (1) traditional, a paper textbook with 100% face-to-face lecture-style teaching; (2) breakout, a paper textbook with 50% face-to-face lecture-style teaching and 50% face-to-face small-group breakout discussion…

  11. Incorporating Online Discussion in Face to Face Classroom Learning: A New Blended Learning Approach

    ERIC Educational Resources Information Center

    Chen, Wenli; Looi, Chee-Kit

    2007-01-01

    This paper discusses an innovative blended learning strategy which incorporates online discussion in both in-class face to face, and off-classroom settings. Online discussion in a face to face class is compared with its two counterparts, off-class online discussion as well as in-class, face to face oral discussion, to examine the advantages and…

  12. Factors contributing to inconsistent condom use among heterosexual men in Curaçao.

    PubMed

    Stutterheim, Sarah E; Bertens, Madelief G B C; Mevissen, Fraukje E F; Schaalma, Herman P

    2013-01-01

    This study explored, from a public health perspective, factors that contribute to inconsistent condom use by men in Curaçao through semi-structured face-to-face interviews with 21 heterosexual men. The findings show that there is an important disconnect between what is considered culturally appropriate sexual behaviour for men and women and condom use, that diverging from prescribed notions of masculinity and femininity in order to use condoms consistently is difficult, and that condom use is particularly problematic in the context of concurrent partnerships and sexual economic exchanges. Participants further reported that Caribbean family structures, whereby mothers assume the role as primary caregiver and fathers contribute biologically but, to a much lesser extent socially, also have an impact on condom use. Additionally, consistent condom use was reported to be impeded by a cultural taboo on talking seriously about sex and sexual health. In their totality, findings provide important input from men for the development of sexual health promotion interventions that are cognizant of the cultural context in which inconsistent condom use occurs, and that are geared not only to the individual level but also to the interpersonal and structural levels. PMID:23350609

  13. Apple fruit copper amine oxidase isoforms: peroxisomal MdAO1 prefers diamines as substrates, whereas extracellular MdAO2 exclusively utilizes monoamines.

    PubMed

    Zarei, Adel; Trobacher, Christopher P; Cooke, Alison R; Meyers, Ashley J; Hall, J Christopher; Shelp, Barry J

    2015-01-01

    4-Aminobutyrate (GABA) accumulates in apple fruit during controlled atmosphere storage. A potential source of GABA is the polyamine putrescine, which can be oxidized via copper-containing amine oxidase (CuAO), resulting in the production 4-aminobutanal/Δ(1)-pyrroline, with the consumption of O2 and release of H2O2 and ammonia. Five putative CuAO genes (MdAO genes) were cloned from apple (Malus domestica Borkh. cv. Empire) fruit, and the deduced amino acid sequences found to contain the active sites typically conserved in CuAOs. Genes encoding two of these enzymes, MdAO1 and MdAO2, were highly expressed in apple fruit and selected for further analysis. Amino acid sequence analysis predicted the presence of a C-terminal peroxisomal targeting signal 1 tripeptide in MdAO1 and an N-terminal signal peptide and N-glycosylation site in MdAO2. Transient expression of green fluorescent fusion proteins in Arabidopsis protoplasts or onion epidermal cells revealed a peroxisomal localization for MdAO1 and an extracellular localization for MdAO2. The enzymatic activities of purified recombinant MdAO1 and MdAO2 were measured continuously as H2O2 production using a coupled reaction. MdAO1 did not use monoamines or polyamines and displayed high catalytic efficiency for 1,3-diaminopropane, putrescine and cadaverine, whereas MdAO2 exclusively utilized aliphatic and aromatic monoamines, including 2-phenylethylamine and tyramine. Together, these results indicate that MdAO1 may contribute to GABA production via putrescine oxidation in the peroxisome of apple fruit under controlled atmosphere conditions. MdAO2 seems to be involved in deamination of 2-phenylethylamine, which is a step in the biosynthesis of 2-phenylethanol, a contributor to fruit flavor and flower fragrance. PMID:25378687

  14. Sampling design for face recognition

    NASA Astrophysics Data System (ADS)

    Yan, Yanjun; Osadciw, Lisa A.

    2006-04-01

    A face recognition system consists of two integrated parts: One is the face recognition algorithm, the other is the selected classifier and derived features by the algorithm from a data set. The face recognition algorithm definitely plays a central role, but this paper does not aim at evaluating the algorithm, but deriving the best features for this algorithm from a specific database through sampling design of the training set, which directs how the sample should be collected and dictates the sample space. Sampling design can help exert the full potential of the face recognition algorithm without overhaul. Conventional statistical analysis usually assume some distribution to draw the inference, but the design-based inference does not assume any distribution of the data and it does not assume the independency between the sample observations. The simulations illustrates that the systematic sampling scheme performs better than the simple random sampling scheme, and the systematic sampling is comparable to using all available training images in recognition performance. Meanwhile the sampling schemes can save the system resources and alleviate the overfitting problem. However, the post stratification by sex is not shown to be significant in improving the recognition performance.

  15. Families Facing the Nuclear Taboo.

    ERIC Educational Resources Information Center

    Jacobs, Judith Bula

    1988-01-01

    Discusses attitudes of 12 families participating in group which was formed to focus on issues related to the possibility of a nuclear disaster. Why and how these families are facing the nuclear taboo plus various outcomes of doing so are discussed as well as the role of the professional in encouraging such openness about these difficult issues.…

  16. "Put on a Happy Face"

    ERIC Educational Resources Information Center

    Morris, Michael

    2004-01-01

    All evaluators face the challenge of striving to adhere to the highest possible standards of ethical conduct. Translating the AEA's Guiding Principles and the Joint Committee's Program Evaluation Standards into everyday practice, however, can be a complex, uncertain, and frustrating endeavor. Moreover, acting in an ethical fashion can require…

  17. Face-Sealing Butterfly Valve

    NASA Technical Reports Server (NTRS)

    Tervo, John N.

    1992-01-01

    Valve plate made to translate as well as rotate. Valve opened and closed by turning shaft and lever. Interactions among lever, spring, valve plate, and face seal cause plate to undergo combination of translation and rotation so valve plate clears seal during parts of opening and closing motions.

  18. The Ontogeny of Face Identity

    ERIC Educational Resources Information Center

    Blass, Elliott M.; Camp, Carole Ann

    2004-01-01

    A paradigm was designed to study how infants identify live faces. Eight- to 21-week-old infants were seated comfortably and were presented an adult female, dressed in a white laboratory coat and a white turtle neck sweater, until habituation ensued. The adult then left the room. One minute later either she or an identically garbed confederate…

  19. Mechanical Coal-Face Fracturer

    NASA Technical Reports Server (NTRS)

    Collins, E. R., Jr.

    1984-01-01

    Radial points on proposed drill bit take advantage of natural fracture planes of coal. Radial fracture points retracted during drilling and impacted by piston to fracture coal once drilling halts. Group of bits attached to array of pneumatic drivers to fracture large areas of coal face.

  20. The Many Faces of Language.

    ERIC Educational Resources Information Center

    Werdmann, Anne M.

    In a sixth-grade unit, students learned about people's facial expressions through careful observation, recording, reporting, and generalizing. The students studied the faces of people of various ages; explored "masks" that people wear in different situations; learned about the use of ritual masks; made case studies of individuals to show facial…

  1. Face liveness detection using defocus.

    PubMed

    Kim, Sooyeon; Ban, Yuseok; Lee, Sangyoun

    2015-01-01

    In order to develop security systems for identity authentication, face recognition (FR) technology has been applied. One of the main problems of applying FR technology is that the systems are especially vulnerable to attacks with spoofing faces (e.g., 2D pictures). To defend from these attacks and to enhance the reliability of FR systems, many anti-spoofing approaches have been recently developed. In this paper, we propose a method for face liveness detection using the effect of defocus. From two images sequentially taken at different focuses, three features, focus, power histogram and gradient location and orientation histogram (GLOH), are extracted. Afterwards, we detect forged faces through the feature-level fusion approach. For reliable performance verification, we develop two databases with a handheld digital camera and a webcam. The proposed method achieves a 3.29% half total error rate (HTER) at a given depth of field (DoF) and can be extended to camera-equipped devices, like smartphones. PMID:25594594

  2. Quantitative Analysis of Face Symmetry.

    PubMed

    Tamir, Abraham

    2015-06-01

    The major objective of this article was to report quantitatively the degree of human face symmetry for reported images taken from the Internet. From the original image of a certain person that appears in the center of each triplet, 2 symmetric combinations were constructed that are based on the left part of the image and its mirror image (left-left) and on the right part of the image and its mirror image (right-right). By applying a computer software that enables to determine length, surface area, and perimeter of any geometric shape, the following measurements were obtained for each triplet: face perimeter and area; distance between the pupils; mouth length; its perimeter and area; nose length and face length, usually below the ears; as well as the area and perimeter of the pupils. Then, for each of the above measurements, the value C, which characterizes the degree of symmetry of the real image with respect to the combinations right-right and left-left, was calculated. C appears on the right-hand side below each image. A high value of C indicates a low symmetry, and as the value is decreasing, the symmetry is increasing. The magnitude on the left relates to the pupils and compares the difference between the area and perimeter of the 2 pupils. The major conclusion arrived at here is that the human face is asymmetric to some degree; the degree of asymmetry is reported quantitatively under each portrait. PMID:26080172

  3. Face Liveness Detection Using Defocus

    PubMed Central

    Kim, Sooyeon; Ban, Yuseok; Lee, Sangyoun

    2015-01-01

    In order to develop security systems for identity authentication, face recognition (FR) technology has been applied. One of the main problems of applying FR technology is that the systems are especially vulnerable to attacks with spoofing faces (e.g., 2D pictures). To defend from these attacks and to enhance the reliability of FR systems, many anti-spoofing approaches have been recently developed. In this paper, we propose a method for face liveness detection using the effect of defocus. From two images sequentially taken at different focuses, three features, focus, power histogram and gradient location and orientation histogram (GLOH), are extracted. Afterwards, we detect forged faces through the feature-level fusion approach. For reliable performance verification, we develop two databases with a handheld digital camera and a webcam. The proposed method achieves a 3.29% half total error rate (HTER) at a given depth of field (DoF) and can be extended to camera-equipped devices, like smartphones. PMID:25594594

  4. De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia.

    PubMed

    Shimoda, Yusuke; Osanai, Toshiya; Nakayama, Naoki; Ushikoshi, Satoshi; Hokari, Masaaki; Shichinohe, Hideo; Abumiya, Takeo; Kazumata, Ken; Houkin, Kiyohiro

    2016-03-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder characterized by the enlargement of capillaries, recurrent nosebleeds, and multiple arteriovenous malformations (AVMs). Although cerebral AVMs are traditionally considered to be congenital lesions, some reports have described de novo AVMs, which suggests that the authors believed them to be dynamic conditions. In this article, the authors describe the case of a 5-year-old boy with HHT in whom a de novo cerebral AVM was detected after a negative MRI result at 5 months. To the authors' knowledge, this is the first report of a de novo AVM in a patient with HHT. In patients with a family history of HHT, de novo AVMs are possible, even when no lesions are detected at the first screening. Therefore, regular screenings need to be performed, and the family should be informed that AVMs could still develop despite normal MRI results. PMID:26613274

  5. Ameliorated de novo transcriptome assembly using Illumina paired end sequence data with Trinity Assembler

    PubMed Central

    Bankar, Kiran Gopinath; Todur, Vivek Nagaraj; Shukla, Rohit Nandan; Vasudevan, Madavan

    2015-01-01

    Advent of Next Generation Sequencing has led to possibilities of de novo transcriptome assembly of organisms without availability of complete genome sequence. Among various sequencing platforms available, Illumina is the most widely used platform based on data quality, quantity and cost. Various de novo transcriptome assemblers are also available today for construction of de novo transcriptome. In this study, we aimed at obtaining an ameliorated de novo transcriptome assembly with sequence reads obtained from Illumina platform and assembled using Trinity Assembler. We found that, primary transcriptome assembly obtained as a result of Trinity can be ameliorated on the basis of transcript length, coverage, and depth and protein homology. Our approach to ameliorate is reproducible and could enhance the sensitivity and specificity of the assembled transcriptome which could be critical for validation of the assembled transcripts and for planning various downstream biological assays. PMID:26484285

  6. Patterns and rates of exonic de novo mutations in autism spectrum disorders

    PubMed Central

    Neale, Benjamin M.; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E.; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San; Makarov, Vladimir; Polak, Paz; Yoon, Seungtai; Maguire, Jared; Crawford, Emily L.; Campbell, Nicholas G.; Geller, Evan T.; Valladares, Otto; Shafer, Chad; Liu, Han; Zhao, Tuo; Cai, Guiqing; Lihm, Jayon; Dannenfelser, Ruth; Jabado, Omar; Peralta, Zuleyma; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G.; Newsham, Irene; Wu, Yuanqing; Lewis, Lora; Han, Yi; Voight, Benjamin F.; Lim, Elaine; Rossin, Elizabeth; Kirby, Andrew; Flannick, Jason; Fromer, Menachem; Shakir, Khalid; Fennell, Tim; Garimella, Kiran; Banks, Eric; Poplin, Ryan; Gabriel, Stacey; DePristo, Mark; Wimbish, Jack R.; Boone, Braden E.; Levy, Shawn E.; Betancur, Catalina; Sunyaev, Shamil; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook, Edwin H.; Devlin, Bernie; Gibbs, Richard A.; Roeder, Kathryn; Schellenberg, Gerard D.; Sutcliffe, James S.; Daly, Mark J.

    2013-01-01

    Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified1,2. To identify further genetic risk factors, we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n= 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant and the overall rate of mutation is only modestly higher than the expected rate. In contrast, there is significantly enriched connectivity among the proteins encoded by genes harboring de novo missense or nonsense mutations, and excess connectivity to prior ASD genes of major effect, suggesting a subset of observed events are relevant to ASD risk. The small increase in rate of de novo events, when taken together with the connections among the proteins themselves and to ASD, are consistent with an important but limited role for de novo point mutations, similar to that documented for de novo copy number variants. Genetic models incorporating these data suggest that the majority of observed de novo events are unconnected to ASD, those that do confer risk are distributed across many genes and are incompletely penetrant (i.e., not necessarily causal). Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors. PMID:22495311

  7. 12 CFR 1263.14 - De novo insured depository institution applicants.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...)(A) of the Bank Act (12 U.S.C. 1424(a)(2)(A)) and § 1263.6(b) shall have until one year after... 12 Banks and Banking 9 2012-01-01 2012-01-01 false De novo insured depository institution... (de novo applicant) is deemed to meet the requirements of §§ 1263.7, 1263.8, 1263.11 and 1263.12....

  8. De Novo Histoid Leprosy: A Case Report from a Post-Elimination Area

    PubMed Central

    Bhat, Yasmeen J; Hassan, Iffat; Yaseen, Atiya; Wani, Rohi

    2015-01-01

    Histoid leprosy is an uncommon variant of lepromatous leprosy that usually follows treatment failure. Occasionally it occurs de novo without any history of previous inadequate or irregular treatment. We, hereby, report a case of de novo histoid leprosy in a 25-year-old man from the post-elimination area of Kashmir, where the prevalence rate of the disease was reported to be 0.17/10000 in March, 2013 (NLEP). PMID:25814742

  9. De novo sequencing of unique sequence tags for discovery of post-translational modifications of proteins.

    PubMed

    Shen, Yufeng; Tolić, Nikola; Hixson, Kim K; Purvine, Samuel O; Anderson, Gordon A; Smith, Richard D

    2008-10-15

    De novo sequencing is a spectrum analysis approach for mass spectrometry data to discover post-translational modifications in proteins; however, such an approach is still in its infancy and is still not widely applied to proteomic practices due to its limited reliability. In this work, we describe a de novo sequencing approach for the discovery of protein modifications based on identification of the proteome UStags (Shen, Y.; Tolić, N.; Hixson, K. K.; Purvine, S. O.; Pasa-Tolić, L.; Qian, W. J.; Adkins, J. N.; Moore, R. J.; Smith, R. D. Anal. Chem. 2008, 80, 1871-1882). The de novo information was obtained from Fourier-transform tandem mass spectrometry data for peptides and polypeptides from a yeast lysate, and the de novo sequences obtained were selected based on filter levels designed to provide a limited yet high quality subset of UStags. The DNA-predicted database protein sequences were then compared to the UStags, and the differences observed across or in the UStags (i.e., the UStags' prefix and suffix sequences and the UStags themselves) were used to infer possible sequence modifications. With this de novo-UStag approach, we uncovered some unexpected variances within several yeast protein sequences due to amino acid mutations and/or multiple modifications to the predicted protein sequences. To determine false discovery rates, two random (false) databases were independently used for sequence matching, and ~3% false discovery rates were estimated for the de novo-UStag approach. The factors affecting the reliability (e.g., existence of de novo sequencing noise residues and redundant sequences) and the sensitivity of the approach were investigated and described. The combined de novo-UStag approach complements the UStag method previously reported by enabling the discovery of new protein modifications. PMID:18783246

  10. Activation and de novo synthesis of hydrogenase in chlamydomonas.

    PubMed

    Roessler, P G; Lien, S

    1984-12-01

    Two distinct processes are involved in the formation of active hydrogenase during anaerobic adaptation of Chlamydomonas reinhardtii cells. In the first 30 minutes of anaerobiosis, nearly all of the hydrogenase activity can be attributed to activation of a constituitive polypeptide precursor, based on the insensitivity of the process to treatment with cycloheximide (15 micrograms per milliliter). This concentration of cycloheximide inhibits protein synthesis by greater than 98%. After the initial activation period, de novo protein synthesis plays a critical role in the adaptation process since cycloheximide inhibits the expression of hydrogense in maximally adapted cells by 70%. Chloramphenicol (500 micrograms per milliliter) has a much lesser effect on the adaptation process.Incubation of cell-free extracts under anaerobic conditions in the presence of dithionite, dithiothreitol, NADH, NADP, ferredoxin, ATP, Mg(2+), Ca(2+), and iron does not lead to active hydrogenase formation. Futhermore, in vivo reactivation of oxygen-inactivated hydrogenase does not appear to take place.The adaptation process is very sensitive to the availability of iron. Iron-deficient cultures lose the ability to form active hydrogenase before growth, photosynthesis, and respiration are significantly affected. Preincubation of iron-deficient cells with iron 2 hours prior to the adaptation period fully restores the capacity of the cells to synthesize functional hydrogenase. PMID:16663954

  11. Considering Transposable Element Diversification in De Novo Annotation Approaches

    PubMed Central

    Flutre, Timothée; Duprat, Elodie; Feuillet, Catherine; Quesneville, Hadi

    2011-01-01

    Transposable elements (TEs) are mobile, repetitive DNA sequences that are almost ubiquitous in prokaryotic and eukaryotic genomes. They have a large impact on genome structure, function and evolution. With the recent development of high-throughput sequencing methods, many genome sequences have become available, making possible comparative studies of TE dynamics at an unprecedented scale. Several methods have been proposed for the de novo identification of TEs in sequenced genomes. Most begin with the detection of genomic repeats, but the subsequent steps for defining TE families differ. High-quality TE annotations are available for the Drosophila melanogaster and Arabidopsis thaliana genome sequences, providing a solid basis for the benchmarking of such methods. We compared the performance of specific algorithms for the clustering of interspersed repeats and found that only a particular combination of algorithms detected TE families with good recovery of the reference sequences. We then applied a new procedure for reconciling the different clustering results and classifying TE sequences. The whole approach was implemented in a pipeline using the REPET package. Finally, we show that our combined approach highlights the dynamics of well defined TE families by making it possible to identify structural variations among their copies. This approach makes it possible to annotate TE families and to study their diversification in a single analysis, improving our understanding of TE dynamics at the whole-genome scale and for diverse species. PMID:21304975

  12. De Novo Transcriptome of the Hemimetabolous German Cockroach (Blattella germanica)

    PubMed Central

    Zhou, Xiaojie; Qian, Kun; Tong, Ying; Zhu, Junwei Jerry; Qiu, Xinghui; Zeng, Xiaopeng

    2014-01-01

    Background The German cockroach, Blattella germanica, is an important insect pest that transmits various pathogens mechanically and causes severe allergic diseases. This insect has long served as a model system for studies of insect biology, physiology and ecology. However, the lack of genome or transcriptome information heavily hinder our further understanding about the German cockroach in every aspect at a molecular level and on a genome-wide scale. To explore the transcriptome and identify unique sequences of interest, we subjected the B. germanica transcriptome to massively parallel pyrosequencing and generated the first reference transcriptome for B. germanica. Methodology/Principal Findings A total of 1,365,609 raw reads with an average length of 529 bp were generated via pyrosequencing the mixed cDNA library from different life stages of German cockroach including maturing oothecae, nymphs, adult females and males. The raw reads were de novo assembled to 48,800 contigs and 3,961 singletons with high-quality unique sequences. These sequences were annotated and classified functionally in terms of BLAST, GO and KEGG, and the genes putatively coding detoxification enzyme systems, insecticide targets, key components in systematic RNA interference, immunity and chemoreception pathways were identified. A total of 3,601 SSRs (Simple Sequence Repeats) loci were also predicted. Conclusions/Significance The whole transcriptome pyrosequencing data from this study provides a usable genetic resource for future identification of potential functional genes involved in various biological processes. PMID:25265537

  13. Enzyme-like replication de novo in a microcontroller environment.

    PubMed

    Tangen, Uwe

    2010-01-01

    The desire to start evolution from scratch inside a computer memory is as old as computing. Here we demonstrate how viable computer programs can be established de novo in a Precambrian environment without supplying any specific instantiation, just starting with random bit sequences. These programs are not self-replicators, but act much more like catalysts. The microcontrollers used in the end are the result of a long series of simplifications. The objective of this simplification process was to produce universal machines with a human-readable interface, allowing software and/or hardware evolution to be studied. The power of the instruction set can be modified by introducing a secondary structure-folding mechanism, which is a state machine, allowing nontrivial replication to emerge with an instruction width of only a few bits. This state-machine approach not only attenuates the problems of brittleness and encoding functionality (too few bits available for coding, and too many instructions needed); it also enables the study of hardware evolution as such. Furthermore, the instruction set is sufficiently powerful to permit external signals to be processed. This information-theoretic approach forms one vertex of a triangle alongside artificial cell research and experimental research on the creation of life. Hopefully this work helps develop an understanding of how information—in a similar sense to the account of functional information described by Hazen et al.—is created by evolution and how this information interacts with or is embedded in its physico-chemical environment. PMID:20712511

  14. De Novo Transcriptome Analysis of Cucumis melo L. var. makuwa

    PubMed Central

    Kim, Hyun A; Shin, Ah-Young; Lee, Min-Seon; Lee, Hee-Jeong; Lee, Heung-Ryul; Ahn, Jongmoon; Nahm, Seokhyeon; Jo, Sung-Hwan; Park, Jeong Mee; Kwon, Suk-Yoon

    2016-01-01

    Oriental melon (Cucumis melo L. var. makuwa) is one of six subspecies of melon and is cultivated widely in East Asia, including China, Japan, and Korea. Although oriental melon is economically valuable in Asia and is genetically distinct from other subspecies, few reports of genome-scale research on oriental melon have been published. We generated 30.5 and 36.8 Gb of raw RNA sequence data from the female and male flowers, leaves, roots, and fruit of two oriental melon varieties, Korean landrace (KM) and Breeding line of NongWoo Bio Co. (NW), respectively. From the raw reads, 64,998 transcripts from KM and 100,234 transcripts from NW were de novo assembled. The assembled transcripts were used to identify molecular markers (e.g., single-nucleotide polymorphisms and simple sequence repeats), detect tissue-specific expressed genes, and construct a genetic linkage map. In total, 234 single-nucleotide polymorphisms and 25 simple sequence repeats were screened from 7,871 and 8,052 candidates, respectively, between the KM and NW varieties and used for construction of a genetic map with 94 F2 population specimens. The genetic linkage map consisted of 12 linkage groups, and 248 markers were assigned. These transcriptome and molecular marker data provide information useful for molecular breeding of oriental melon and further comparative studies of the Cucurbitaceae family. PMID:26743902

  15. De novo cerebellar malignant glioma: A case report

    PubMed Central

    Matsumoto, Hiroaki; Yoshida, Yasuhisa

    2016-01-01

    Introduction Gliomas of the cerebellum are rare in adults, and their natural history and clinical behavior are not well known. Because cerebellar glioma is not usually diagnosed until clinical symptoms have appeared, no reports have described the developmental process of new cerebellar gliomas. We describe a case of de novo cerebellar anaplastic astrocytoma in which the developmental process was detected on magnetic resonance imaging (MRI). Presentation of case A 78-year-old man with a history of cerebral infarction was undergoing follow-up MRI every 6 months. This follow-up revealed a small abnormality in the left cerebellar hemisphere without clinical symptoms. Subsequent MRI showed lesion growth accompanying clinical symptoms. As cerebellar tumor was suspected, the lesion was extirpated. The histological diagnosis was anaplastic astrocytoma. Local recurrence developed and the patient died 20 months postoperatively. Discussion Cerebellar gliomas sometimes do not exhibit the common MRI findings of supratentorial gliomas, leading to difficulty with preoperative diagnosis. In this case, we initially diagnosed asymptomatic cerebellar infarction because the lesion was small and asymptomatic. The abnormal lesion gradually grew and clinical symptoms appeared. Cerebellar glioma may show few signs characteristic of tumor on MRI in the initial stages. Conclusion When MRI detects a new, faint abnormality in the cerebellum, close follow-up of clinical symptoms and MRI on suspicion of glioma is warranted PMID:27017277

  16. De Novo Methylation of Repeated Sequences in Coprinus Cinereus

    PubMed Central

    Freedman, T.; Pukkila, P. J.

    1993-01-01

    We have examined the stability of duplicated DNA sequences in the sexual phase of the life cycle of the basidiomycete fungus, Coprinus cinereus. We observed premeiotic de novo methylation in haploid nuclei containing either a triplication, a tandem duplication, or an ectopic duplication. Methylation changes were not observed in unique sequences. Repeated sequences underwent methylation changes during the dikaryotic stage. In one cross, 27% of the segregants exhibited methylation-directed gene inactivation. However, all auxotrophs eventually reverted to prototrophy. C to T transition mutations were not observed in this study. Our studies also revealed one inversion that occurred in 50% of the segregants in a single triplication cross, and a single pop-out event that occurred during vegetative growth. These alterations were similar to changes reported in experiments with duplicated sequences in Neurospora crassa and Ascobolus immersus. However, significant differences were also noted. First, the extent of methylation was much less in C. cinereus than in the other two fungi. Second, CpG sequences appeared to be the preferred targets of methylation. PMID:8244000

  17. De Novo Transcriptome Analysis of Cucumis melo L. var. makuwa.

    PubMed

    Kim, Hyun A; Shin, Ah-Young; Lee, Min-Seon; Lee, Hee-Jeong; Lee, Heung-Ryul; Ahn, Jongmoon; Nahm, Seokhyeon; Jo, Sung-Hwan; Park, Jeong Mee; Kwon, Suk-Yoon

    2016-02-01

    Oriental melon (Cucumis melo L. var. makuwa) is one of six subspecies of melon and is cultivated widely in East Asia, including China, Japan, and Korea. Although oriental melon is economically valuable in Asia and is genetically distinct from other subspecies, few reports of genome-scale research on oriental melon have been published. We generated 30.5 and 36.8 Gb of raw RNA sequence data from the female and male flowers, leaves, roots, and fruit of two oriental melon varieties, Korean landrace (KM) and Breeding line of NongWoo Bio Co. (NW), respectively. From the raw reads, 64,998 transcripts from KM and 100,234 transcripts from NW were de novo assembled. The assembled transcripts were used to identify molecular markers (e.g., single-nucleotide polymorphisms and simple sequence repeats), detect tissue-specific expressed genes, and construct a genetic linkage map. In total, 234 single-nucleotide polymorphisms and 25 simple sequence repeats were screened from 7,871 and 8,052 candidates, respectively, between the KM and NW varieties and used for construction of a genetic map with 94 F2 population specimens. The genetic linkage map consisted of 12 linkage groups, and 248 markers were assigned. These transcriptome and molecular marker data provide information useful for molecular breeding of oriental melon and further comparative studies of the Cucurbitaceae family. PMID:26743902

  18. LESSONS IN DE NOVO PEPTIDE SEQUENCING BY TANDEM MASS SPECTROMETRY

    PubMed Central

    Medzihradszky, Katalin F.; Chalkley, Robert J.

    2015-01-01

    Mass spectrometry has become the method of choice for the qualitative and quantitative characterization of protein mixtures isolated from all kinds of living organisms. The raw data in these studies are MS/MS spectra, usually of peptides produced by proteolytic digestion of a protein. These spectra are “translated” into peptide sequences, normally with the help of various search engines. Data acquisition and interpretation have both been automated, and most researchers look only at the summary of the identifications without ever viewing the underlying raw data used for assignments. Automated analysis of data is essential due to the volume produced. However, being familiar with the finer intricacies of peptide fragmentation processes, and experiencing the difficulties of manual data interpretation allow a researcher to be able to more critically evaluate key results, particularly because there are many known rules of peptide fragmentation that are not incorporated into search engine scoring. Since the most commonly used MS/MS activation method is collision-induced dissociation (CID), in this article we present a brief review of the history of peptide CID analysis. Next, we provide a detailed tutorial on how to determine peptide sequences from CID data. Although the focus of the tutorial is de novo sequencing, the lessons learned and resources supplied are useful for data interpretation in general. PMID:25667941

  19. Activation and de novo synthesis of hydrogenase in Chlamydomonas

    SciTech Connect

    Roessler, P.G.; Lien, S.

    1984-12-01

    Two distinct processes are involved in the formation of active hydrogenase during anaerobic adaptation of Chlamydomonas reinhardtii cells. In the first 30 minutes of anaerobiosis, nearly all of the hydrogenase activity can be attributed to activation of constituitive polypeptide precursor, based on the insensitivity of the process to treatment with cycloheximide (15 micrograms per milliliter). This concentration of cycloheximide inhibits protein synthesis by greater than 98%. After the initial activation period, de novo protein synthesis plays a critical role in the adaptation process since cycloheximide inhibits the expression of hydrogenase in maximally adapted cells by 70%. Chloramphenicol (500 micrograms per milliliter) has a much lesser effect on the adaptation process. Incubation of cell-free extracts under anaerobic conditions in the presence of dithionite, dithiothreitol, NADH, NADP, ferredoxin, ATP, Mg/sup 2 +/, Ca/sup 2 +/, and iron does not lead to active hydrogenase formation. Furthermore, in vivo reactivation of oxygen-inactivated hydrogenase does not appear to take place. The adaptation process is very sensitive to the availability of iron. Iron-deficient cultures lose the ability to form active hydrogenase before growth, photosynthesis, and respiration are significantly affected. Preincubation of iron-deficient cells with iron 2 hours prior to the adaptation period fully restores the capacity of the cells to synthesize functional hydrogenase.

  20. De novo transcriptome assembly of Sorghum bicolor variety Taejin.

    PubMed

    Jo, Yeonhwa; Lian, Sen; Cho, Jin Kyong; Choi, Hoseong; Kim, Sang-Min; Kim, Sun-Lim; Lee, Bong Choon; Cho, Won Kyong

    2016-06-01

    Sorghum (Sorghum bicolor), also known as great millet, is one of the most popular cultivated grass species in the world. Sorghum is frequently consumed as food for humans and animals as well as used for ethanol production. In this study, we conducted de novo transcriptome assembly for sorghum variety Taejin by next-generation sequencing, obtaining 8.748 GB of raw data. The raw data in this study can be available in NCBI SRA database with accession number of SRX1715644. Using the Trinity program, we identified 222,161 transcripts from sorghum variety Taejin. We further predicted coding regions within the assembled transcripts by the TransDecoder program, resulting in a total of 148,531 proteins. We carried out BLASTP against the Swiss-Prot protein sequence database to annotate the functions of the identified proteins. To our knowledge, this is the first transcriptome data for a sorghum variety derived from Korea, and it can be usefully applied to the generation of genetic markers. PMID:27257604

  1. 8-oxoguanine causes spontaneous de novo germline mutations in mice

    NASA Astrophysics Data System (ADS)

    Ohno, Mizuki; Sakumi, Kunihiko; Fukumura, Ryutaro; Furuichi, Masato; Iwasaki, Yuki; Hokama, Masaaki; Ikemura, Toshimichi; Tsuzuki, Teruhisa; Gondo, Yoichi; Nakabeppu, Yusaku

    2014-04-01

    Spontaneous germline mutations generate genetic diversity in populations of sexually reproductive organisms, and are thus regarded as a driving force of evolution. However, the cause and mechanism remain unclear. 8-oxoguanine (8-oxoG) is a candidate molecule that causes germline mutations, because it makes DNA more prone to mutation and is constantly generated by reactive oxygen species in vivo. We show here that endogenous 8-oxoG caused de novo spontaneous and heritable G to T mutations in mice, which occurred at different stages in the germ cell lineage and were distributed throughout the chromosomes. Using exome analyses covering 40.9 Mb of mouse transcribed regions, we found increased frequencies of G to T mutations at a rate of 2 × 10-7 mutations/base/generation in offspring of Mth1/Ogg1/Mutyh triple knockout (TOY-KO) mice, which accumulate 8-oxoG in the nuclear DNA of gonadal cells. The roles of MTH1, OGG1, and MUTYH are specific for the prevention of 8-oxoG-induced mutation, and 99% of the mutations observed in TOY-KO mice were G to T transversions caused by 8-oxoG; therefore, we concluded that 8-oxoG is a causative molecule for spontaneous and inheritable mutations of the germ lineage cells.

  2. Divergent evolution of a bifunctional de novo protein.

    PubMed

    Smith, Betsy A; Mularz, Ann E; Hecht, Michael H

    2015-02-01

    Primordial proteins, the evolutionary ancestors of modern sequences, are presumed to have been minimally active and nonspecific. Following eons of selective pressure, these early progenitors evolved into highly active and specific proteins. While evolutionary trajectories from poorly active and multifunctional generalists toward highly active specialists likely occurred many times in evolutionary history, such pathways are difficult to reconstruct in natural systems, where primordial sequences are lost to time. To test the hypothesis that selection for enhanced activity leads to a loss of promiscuity, we evolved a de novo designed bifunctional protein. The parental protein, denoted Syn-IF, was chosen from a library of binary patterned 4-helix bundles. Syn-IF was shown previously to rescue two different auxotrophic strains of E. coli: ΔilvA and Δfes. These two strains contain deletions for proteins with very different biochemical functions; IlvA is involved in isoleucine biosynthesis, while Fes is involved in iron assimilation. In two separate experiments, Syn-IF, was evolved for faster rescue of either ΔilvA or Δfes. Following multiple rounds of mutagenesis, two new proteins were selected, each capable of rescuing the selected function significantly faster than the parental protein. In each case, the evolved protein also lost the ability to rescue the unselected function. In both evolutionary trajectories, the original bifunctional generalist was evolved into a monofunctional specialist with enhanced activity. PMID:25420677

  3. Growth Hormone Inhibits Hepatic De Novo Lipogenesis in Adult Mice.

    PubMed

    Cordoba-Chacon, Jose; Majumdar, Neena; List, Edward O; Diaz-Ruiz, Alberto; Frank, Stuart J; Manzano, Anna; Bartrons, Ramon; Puchowicz, Michelle; Kopchick, John J; Kineman, Rhonda D

    2015-09-01

    Patients with nonalcoholic fatty liver disease (NAFLD) are reported to have low growth hormone (GH) production and/or hepatic GH resistance. GH replacement can resolve the fatty liver condition in diet-induced obese rodents and in GH-deficient patients. However, it remains to be determined whether this inhibitory action of GH is due to direct regulation of hepatic lipid metabolism. Therefore, an adult-onset, hepatocyte-specific, GH receptor (GHR) knockdown (aLivGHRkd) mouse was developed to model hepatic GH resistance in humans that may occur after sexual maturation. Just 7 days after aLivGHRkd, hepatic de novo lipogenesis (DNL) was increased in male and female chow-fed mice, compared with GHR-intact littermate controls. However, hepatosteatosis developed only in male and ovariectomized female aLivGHRkd mice. The increase in DNL observed in aLivGHRkd mice was not associated with hyperactivation of the pathway by which insulin is classically considered to regulate DNL. However, glucokinase mRNA and protein levels as well as fructose-2,6-bisphosphate levels were increased in aLivGHRkd mice, suggesting that enhanced glycolysis drives DNL in the GH-resistant liver. These results demonstrate that hepatic GH actions normally serve to inhibit DNL, where loss of this inhibitory signal may explain, in part, the inappropriate increase in hepatic DNL observed in NAFLD patients. PMID:26015548

  4. De novo design of protein mimics of B-DNA.

    PubMed

    Yüksel, Deniz; Bianco, Piero R; Kumar, Krishna

    2016-01-01

    Structural mimicry of DNA is utilized in nature as a strategy to evade molecular defences mounted by host organisms. One such example is the protein Ocr - the first translation product to be expressed as the bacteriophage T7 infects E. coli. The structure of Ocr reveals an intricate and deliberate arrangement of negative charges that endows it with the ability to mimic ∼24 base pair stretches of B-DNA. This uncanny resemblance to DNA enables Ocr to compete in binding the type I restriction modification (R/M) system, and neutralizes the threat of hydrolytic cleavage of viral genomic material. Here, we report the de novo design and biophysical characterization of DNA mimicking peptides, and describe the inhibitory action of the designed helical bundles on a type I R/M enzyme, EcoR124I. This work validates the use of charge patterning as a design principle for creation of protein mimics of DNA, and serves as a starting point for development of therapeutic peptide inhibitors against human pathogens that employ molecular camouflage as part of their invasion stratagem. PMID:26568416

  5. A de novo redesign of the WW domain.

    PubMed

    Kraemer-Pecore, Christina M; Lecomte, Juliette T J; Desjarlais, John R

    2003-10-01

    We have used a sequence prediction algorithm and a novel sampling method to design protein sequences for the WW domain, a small beta-sheet motif. The procedure, referred to as SPANS, designs sequences to be compatible with an ensemble of closely related polypeptide backbones, mimicking the inherent flexibility of proteins. Two designed sequences (termed SPANS-WW1 and SPANS-WW2), using only naturally occurring L-amino acids, were selected for study and the corresponding polypeptides were prepared in Escherichia coli. Circular dichroism data suggested that both purified polypeptides adopted secondary structure features related to those of the target without the aid of disulfide bridges or bound cofactors. The structure exhibited by SPANS-WW2 melted cooperatively by raising the temperature of the solution. Further analysis of this polypeptide by proton nuclear magnetic resonance spectroscopy demonstrated that at 5 degrees C, it folds into a structure closely resembling a natural WW domain. This achievement constitutes one of a small number of successful de novo protein designs through fully automated computational methods and highlights the feasibility of including backbone flexibility in the design strategy. PMID:14500877

  6. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    PubMed

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. PMID:26604139

  7. Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting

    PubMed Central

    Malaspina, Dolores

    2010-01-01

    There is a strong genetic component for schizophrenia risk, but it is unclear how the illness is maintained in the population given the significantly reduced fertility of those with the disorder. One possibility is that new mutations occur in schizophrenia vulnerability genes. If so, then those with schizophrenia may have older fathers, because advancing paternal age is the major source of new mutations in humans. This review describes several neurodevelopmental disorders that have been associated with de novo mutations in the paternal germ line and reviews data linking increased schizophrenia risk with older fathers. Several genetic mechanisms that could explain this association are proposed, including paternal germ line mutations, trinucleotide repeat expansions, and alterations in genetic imprinting in one or several genes involved in neurodevelopment. Animal models may be useful in exploring these and other explanations for the paternal age effect and they may provide a novel approach for gene identification. Finally, it is proposed that environmental exposures of the father, as well as those of the mother and developing fetus, may be relevant to the etiology of schizophrenia. PMID:11596842

  8. Spaced Seed Data Structures for De Novo Assembly.

    PubMed

    Birol, Inanç; Chu, Justin; Mohamadi, Hamid; Jackman, Shaun D; Raghavan, Karthika; Vandervalk, Benjamin P; Raymond, Anthony; Warren, René L

    2015-01-01

    De novo assembly of the genome of a species is essential in the absence of a reference genome sequence. Many scalable assembly algorithms use the de Bruijn graph (DBG) paradigm to reconstruct genomes, where a table of subsequences of a certain length is derived from the reads, and their overlaps are analyzed to assemble sequences. Despite longer subsequences unlocking longer genomic features for assembly, associated increase in compute resources limits the practicability of DBG over other assembly archetypes already designed for longer reads. Here, we revisit the DBG paradigm to adapt it to the changing sequencing technology landscape and introduce three data structure designs for spaced seeds in the form of paired subsequences. These data structures address memory and run time constraints imposed by longer reads. We observe that when a fixed distance separates seed pairs, it provides increased sequence specificity with increased gap length. Further, we note that Bloom filters would be suitable to implicitly store spaced seeds and be tolerant to sequencing errors. Building on this concept, we describe a data structure for tracking the frequencies of observed spaced seeds. These data structure designs will have applications in genome, transcriptome and metagenome assemblies, and read error correction. PMID:26539459

  9. Spaced Seed Data Structures for De Novo Assembly

    PubMed Central

    Birol, Inanç; Chu, Justin; Mohamadi, Hamid; Jackman, Shaun D.; Raghavan, Karthika; Vandervalk, Benjamin P.; Raymond, Anthony; Warren, René L.

    2015-01-01

    De novo assembly of the genome of a species is essential in the absence of a reference genome sequence. Many scalable assembly algorithms use the de Bruijn graph (DBG) paradigm to reconstruct genomes, where a table of subsequences of a certain length is derived from the reads, and their overlaps are analyzed to assemble sequences. Despite longer subsequences unlocking longer genomic features for assembly, associated increase in compute resources limits the practicability of DBG over other assembly archetypes already designed for longer reads. Here, we revisit the DBG paradigm to adapt it to the changing sequencing technology landscape and introduce three data structure designs for spaced seeds in the form of paired subsequences. These data structures address memory and run time constraints imposed by longer reads. We observe that when a fixed distance separates seed pairs, it provides increased sequence specificity with increased gap length. Further, we note that Bloom filters would be suitable to implicitly store spaced seeds and be tolerant to sequencing errors. Building on this concept, we describe a data structure for tracking the frequencies of observed spaced seeds. These data structure designs will have applications in genome, transcriptome and metagenome assemblies, and read error correction. PMID:26539459

  10. De novo C3 glomerulonephritis in a renal allograft.

    PubMed

    Nahm, Ji Hae; Song, Seung Hwan; Kim, Yu Seun; Cheong, Hae-Il; Lim, Beom Jin; Kim, Beom Seok; Jeong, Hyeon Joo

    2016-01-01

    C3 glomerulonephritis (C3GN) is a recently described, rare glomerular disease characterized by predominant or sole glomerular C3 deposits. Morphologic features of C3GN are similar to those of dense deposit disease (DDD); however, ribbon-like intramembranous electron-dense deposits are absent in the former. We report a case of de novo C3GN in a renal allograft with morphologic transformation to DDD. A 6-year-old boy presented with congenital left renal agenesis and right ureteropelvic junction obstruction. The patient underwent pyeloplasty but experienced recurrent urinary tract infections. At the age of 22 years, he received a renal allograft from a living related donor. C3GN was diagnosed after 1 year of transplantation; initial histology showed minimal mesangiopathy and this progressed to mesangial proliferation and membranoproliferative features over the next 7 years. Serum creatinine levels were stabilized with anti-rejection treatments for combating repeated episodes of acute rejection; however, glomerular and tubular band-like electron-dense deposits became evident. PMID:26986539

  11. De novo synthesis of a sunscreen compound in vertebrates

    PubMed Central

    Osborn, Andrew R; Almabruk, Khaled H; Holzwarth, Garrett; Asamizu, Shumpei; LaDu, Jane; Kean, Kelsey M; Karplus, P Andrew; Tanguay, Robert L; Bakalinsky, Alan T; Mahmud, Taifo

    2015-01-01

    Ultraviolet-protective compounds, such as mycosporine-like amino acids (MAAs) and related gadusols produced by some bacteria, fungi, algae, and marine invertebrates, are critical for the survival of reef-building corals and other marine organisms exposed to high-solar irradiance. These compounds have also been found in marine fish, where their accumulation is thought to be of dietary or symbiont origin. In this study, we report the unexpected discovery that fish can synthesize gadusol de novo and that the analogous pathways are also present in amphibians, reptiles, and birds. Furthermore, we demonstrate that engineered yeast containing the fish genes can produce and secrete gadusol. The discovery of the gadusol pathway in vertebrates provides a platform for understanding its role in these animals, and the possibility of engineering yeast to efficiently produce a natural sunscreen and antioxidant presents an avenue for its large-scale production for possible use in pharmaceuticals and cosmetics. DOI: http://dx.doi.org/10.7554/eLife.05919.001 PMID:25965179

  12. Faces Attract Infants' Attention in Complex Displays

    ERIC Educational Resources Information Center

    Gliga, Teodora; Elsabbagh, Mayada; Andravizou, Athina; Johnson, Mark

    2009-01-01

    Infant's face preferences have previously been assessed in displays containing 1 or 2 faces. Here we present 6-month-old infants with a complex visual array containing faces among multiple visual objects. Despite the competing objects, infants direct their first saccade toward faces more frequently than expected by chance (Experiment 1). The…

  13. Groundwater contamination in relation with the increasing urbanization rate in Africa. Case of Cotonou and Porto Novo (Benin).

    NASA Astrophysics Data System (ADS)

    Odeloui, Diane; Celle-Jeanton, Hélène; Huneau, Frédéric; Boukari, Moussa; Alassane, Abdelkarim; Garel, Emilie; Lavastre, Véronique; Bertrand, Guillaume

    2016-04-01

    More than one billion people in the world still have no access to sufficient resources in drinking water (United Nation, 2014). In particular, large cities in Africa have to face several problems: 1) population growth associated with the strongest urbanization rate increase (5% per year) of the world leading to a dramatic increase in good-quality water needs, 2) low levels of solid waste management and sanitation services, 3) insufficient or disconnected water supply services, 4) low knowledge of water resources availabilities. The situation in Benin is a relevant illustration of the problems that Africa has to face to. As many other coastal urban areas in Africa (Showers, 2002; Re et al., 2011), Cotonou and Porto Novo cities have seen a rapid increase of their population as these towns constitute a corridor of transit for the imports and the exports in the nearby countries. Hence, they are very attractive for job hunters, and constitute the administrative centers for the whole country. This rapid population growth amplifies the problem of water supply and may generate serious impacts on groundwater resources: depletion due to overexploitation, salinization due to seawater intrusion and pollution linked to human activities. In order to insure a safe water supply in the context of increasing urbanization and population in the coastal area of Cotonou and Porto Novo, the identification of the main sources of pollution is essential for the implementation of long-term water management procedures. Based on two field campaigns carried out in January-2012 (dry season) and August-2012 (rainy season), hydrochemical analysis have been realized on groundwater sampled from boreholes drilled in the CTA (Continental Terminal Aquifer) and wells dug in the QCA (Quaternary Coastal Aquifer) in order to investigate the origin of salinization and the present time extension of the nitrate contamination. Historical data have also been collected from previous studies in order to

  14. Really Reaching the Public, Face-to-Face

    NASA Astrophysics Data System (ADS)

    Foukal, Peter

    2014-02-01

    This past summer I was able to provide a young couple with their first view of Saturn through a telescope, and afterward they told me what a profound experience this look into space had been for them. It wasn't the first time I'd seen such an emotional response since I opened the East Point Solar Observatory, a small public observatory in Nahant, Mass., in 1995. But listening to them reminded me how lucky we scientists are to pursue a career that brings out such warm feelings in our neighbors. It also made me wonder whether the effectiveness of our national approach to public outreach might be increased by more face-to-face contact between scientists and the public.

  15. Face to Face : The Perception of Automotive Designs.

    PubMed

    Windhager, Sonja; Slice, Dennis E; Schaefer, Katrin; Oberzaucher, Elisabeth; Thorstensen, Truls; Grammer, Karl

    2008-12-01

    Over evolutionary time, humans have developed a selective sensitivity to features in the human face that convey information on sex, age, emotions, and intentions. This ability might not only be applied to our conspecifics nowadays, but also to other living objects (i.e., animals) and even to artificial structures, such as cars. To investigate this possibility, we asked people to report the characteristics, emotions, personality traits, and attitudes they attribute to car fronts, and we used geometric morphometrics (GM) and multivariate statistical methods to determine and visualize the corresponding shape information. Automotive features and proportions are found to covary with trait perception in a manner similar to that found with human faces. Emerging analogies are discussed. This study should have implications for both our understanding of our prehistoric psyche and its interrelation with the modern world. PMID:26181746

  16. Temporal Networks of Face-to-Face Human Interactions

    NASA Astrophysics Data System (ADS)

    Barrat, Alain; Cattuto, Ciro

    The ever increasing adoption of mobile technologies and ubiquitous services allows to sense human behavior at unprecedented levels of details and scale. Wearable sensors are opening up a new window on human mobility and proximity at the finest resolution of face-to-face proximity. As a consequence, empirical data describing social and behavioral networks are acquiring a longitudinal dimension that brings forth new challenges for analysis and modeling. Here we review recent work on the representation and analysis of temporal networks of face-to-face human proximity, based on large-scale datasets collected in the context of the SocioPatterns collaboration. We show that the raw behavioral data can be studied at various levels of coarse-graining, which turn out to be complementary to one another, with each level exposing different features of the underlying system. We briefly review a generative model of temporal contact networks that reproduces some statistical observables. Then, we shift our focus from surface statistical features to dynamical processes on empirical temporal networks. We discuss how simple dynamical processes can be used as probes to expose important features of the interaction patterns, such as burstiness and causal constraints. We show that simulating dynamical processes on empirical temporal networks can unveil differences between datasets that would otherwise look statistically similar. Moreover, we argue that, due to the temporal heterogeneity of human dynamics, in order to investigate the temporal properties of spreading processes it may be necessary to abandon the notion of wall-clock time in favour of an intrinsic notion of time for each individual node, defined in terms of its activity level. We conclude highlighting several open research questions raised by the nature of the data at hand.

  17. Neandertal faces were not long; modern human faces are short

    PubMed Central

    Trinkaus, Erik

    2003-01-01

    Neandertal faces have been described as being derived with respect to their overall length or degree of anterior projection. A comparison of cranial and mandibular indicators of lower facial projection across archaic and modern Homo indicates that Neandertal facial lengths on average are similar to those of preceding archaic Homo and principally contrast with those of recent humans. Neandertal facial length is not derived. The shortness of recent human facial skeletons is the evolutionarily derived condition. PMID:12815095

  18. De novo mutations revealed by whole exome sequencing are strongly associated with autism

    PubMed Central

    Sanders, Stephan J.; Murtha, Michael T.; Gupta, Abha R.; Murdoch, John D.; Raubeson, Melanie J.; Willsey, A. Jeremy; Ercan-Sencicek, A. Gulhan; DiLullo, Nicholas M.; Parikshak, Neelroop N.; Stein, Jason L.; Walker, Michael F.; Ober, Gordon T.; Teran, Nicole A.; Song, Youeun; El-Fishawy, Paul; Murtha, Ryan C.; Choi, Murim; Overton, John D.; Bjornson, Robert D.; Carriero, Nicholas J.; Meyer, Kyle A.; Bilguvar, Kaya; Mane, Shrikant M.; Šestan, Nenad; Lifton, Richard P.; Günel, Murat; Roeder, Kathryn; Geschwind, Daniel H.; Devlin, Bernie; State, Matthew W.

    2013-01-01

    Multiple studies have confirmed the contribution of rare de novo copy number variations (CNVs) to the risk for Autism Spectrum Disorders (ASD).1-3 While de novo single nucleotide variants (SNVs) have been identified in affected individuals,4 their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations has not been well characterized in matched unaffected controls, data that are vital to the interpretation of de novo coding mutations observed in probands. Here we show, via whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with ASD and carry large effects (OR=5.65; CI: 1.44-22.2; p=0.01 asymptotic test). Based on mutation rates in unaffected individuals, we demonstrate that multiple independent de novo SNVs in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (Sodium Channel, Voltage-Gated, Type II, Alpha Subunit), a result that is highly unlikely by chance (p=0.005). PMID:22495306

  19. Selecting Superior De Novo Transcriptome Assemblies: Lessons Learned by Leveraging the Best Plant Genome.

    PubMed

    Honaas, Loren A; Wafula, Eric K; Wickett, Norman J; Der, Joshua P; Zhang, Yeting; Edger, Patrick P; Altman, Naomi S; Pires, J Chris; Leebens-Mack, James H; dePamphilis, Claude W

    2016-01-01

    Whereas de novo assemblies of RNA-Seq data are being published for a growing number of species across the tree of life, there are currently no broadly accepted methods for evaluating such assemblies. Here we present a detailed comparison of 99 transcriptome assemblies, generated with 6 de novo assemblers including CLC, Trinity, SOAP, Oases, ABySS and NextGENe. Controlled analyses of de novo assemblies for Arabidopsis thaliana and Oryza sativa transcriptomes provide new insights into the strengths and limitations of transcriptome assembly strategies. We find that the leading assemblers generate reassuringly accurate assemblies for the majority of transcripts. At the same time, we find a propensity for assemblers to fail to fully assemble highly expressed genes. Surprisingly, the instance of true chimeric assemblies is very low for all assemblers. Normalized libraries are reduced in highly abundant transcripts, but they also lack 1000s of low abundance transcripts. We conclude that the quality of de novo transcriptome assemblies is best assessed through consideration of a combination of metrics: 1) proportion of reads mapping to an assembly 2) recovery of conserved, widely expressed genes, 3) N50 length statistics, and 4) the total number of unigenes. We provide benchmark Illumina transcriptome data and introduce SCERNA, a broadly applicable modular protocol for de novo assembly improvement. Finally, our de novo assembly of the Arabidopsis leaf transcriptome revealed ~20 putative Arabidopsis genes lacking in the current annotation. PMID:26731733

  20. De novo giant A2 aneurysm following anterior communicating artery occlusion

    PubMed Central

    Ibrahim, Tarik F.; Hafez, Ahmad; Andrade-Barazarte, Hugo; Raj, Rahul; Niemela, Mika; Lehto, Hanna; Numminen, Jussi; Jarvelainen, Juha; Hernesniemi, Juha

    2015-01-01

    Background: De novo intracranial aneurysms are reported to occur with varying incidence after intracranial aneurysm treatment. They are purported to be observed, however, with increased incidence after Hunterian ligation; particularly in cases of carotid artery occlusion for giant or complex aneurysms deemed unclippable. Case Description: We report a case of right-sided de novo giant A2 aneurysm 6 years after an anterior communicating artery (ACoA) aneurysm clipping. We believe this de novo aneurysm developed in part due to patient-specific risk factors but also a significant change in cerebral hemodynamics. The ACoA became occluded after surgery that likely altered the cerebral hemodynamics and contributed to the de novo aneurysm. We believe this to be the first reported case of a giant de novo aneurysm in this location. Following parent vessel occlusion (mostly of the carotid artery), there are no reports of any de novo aneurysms in the pericallosal arteries let alone a giant one. The patient had a dominant right A1 and the sudden increase in A2 blood flow likely resulted in increased wall shear stress, particularly in the medial wall of the A2 where the aneurysm occurred 2 mm distal to the A1-2 junction. Conclusion: ACoA preservation is a key element of aneurysm surgery in this location. Suspected occlusion of this vessel may warrant closer radiographic follow-up in patients with other risk factors for aneurysm development. PMID:26664872

  1. A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

    PubMed Central

    Hofrichter, Michaela A.H.; Nanda, Indrajit; Gräf, Jens; Schröder, Jörg; Shehata-Dieler, Wafaa; Vona, Barbara; Haaf, Thomas

    2015-01-01

    Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B). So far, 2 families have been reported with segregating missense mutations, both in the immunoglobulin constant domain A of the CEACAM16 protein. In this study, we used the TruSight One panel to investigate a parent-child trio without familial history of hearing loss and one affected child. When filtering for recessive inheritance and de novo events, we discovered a de novo CEACAM16 mutation (c.1094T>G, p.Leu365Arg) as the sole likely pathogenic variant. The de novo mutation was confirmed by Sanger sequencing and STR analysis. The proband's hearing loss closely matches the described onset and severity for DFNA4B. We present the third CEACAM16 variant and the first de novo mutation in CEACAM16. This de novo mutation is robustly described as a pathogenic mutation according to in silico mutation prediction tools and affects a highly conserved amino acid in the most strongly conserved CEACAM16 N2 domain. Our strategy of screening family trios enhances de novo mutation discovery and the exclusion of other variants of potential interest through pedigree filtering. PMID:26648831

  2. Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.

    PubMed

    Golmard, L; Delnatte, C; Laugé, A; Moncoutier, V; Lefol, C; Abidallah, K; Tenreiro, H; Copigny, F; Giraudeau, M; Guy, C; Barbaroux, C; Amorim, G; Briaux, A; Guibert, V; Tarabeux, J; Caputo, S; Collet, A; Gesta, P; Ingster, O; Stern, M-H; Rouleau, E; de Pauw, A; Gauthier-Villars, M; Buecher, B; Bézieau, S; Stoppa-Lyonnet, D; Houdayer, C

    2016-03-10

    BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several genes, only 11 cases of de novo BRCA1/2 mutations have been reported to date and the BRCA1/2 de novo mutation rate remains unknown. The present study was designed to fill this gap based on a series of 12 805 consecutive unrelated patients diagnosed with breast and/or ovarian cancer who met the inclusion criteria for BRCA1/2 gene analysis according to French guidelines. BRCA1/2 mutations were detected in 1527 (12%) patients, and three BRCA1 mutations and one BRCA2 mutation were de novo. The BRCA1/2 de novo mutation rate was estimated to be 0.3% (0.1%; 0.7%). Although rare, it may be useful to take the possibility of de novo BRCA1/2 mutation into account in genetic counseling of relatives and to improve the understanding of complex family histories of breast and ovarian cancers. PMID:26028024

  3. Selecting Superior De Novo Transcriptome Assemblies: Lessons Learned by Leveraging the Best Plant Genome

    PubMed Central

    Honaas, Loren A.; Wafula, Eric K.; Wickett, Norman J.; Der, Joshua P.; Zhang, Yeting; Edger, Patrick P.; Altman, Naomi S.; Pires, J. Chris; Leebens-Mack, James H.; dePamphilis, Claude W.

    2016-01-01

    Whereas de novo assemblies of RNA-Seq data are being published for a growing number of species across the tree of life, there are currently no broadly accepted methods for evaluating such assemblies. Here we present a detailed comparison of 99 transcriptome assemblies, generated with 6 de novo assemblers including CLC, Trinity, SOAP, Oases, ABySS and NextGENe. Controlled analyses of de novo assemblies for Arabidopsis thaliana and Oryza sativa transcriptomes provide new insights into the strengths and limitations of transcriptome assembly strategies. We find that the leading assemblers generate reassuringly accurate assemblies for the majority of transcripts. At the same time, we find a propensity for assemblers to fail to fully assemble highly expressed genes. Surprisingly, the instance of true chimeric assemblies is very low for all assemblers. Normalized libraries are reduced in highly abundant transcripts, but they also lack 1000s of low abundance transcripts. We conclude that the quality of de novo transcriptome assemblies is best assessed through consideration of a combination of metrics: 1) proportion of reads mapping to an assembly 2) recovery of conserved, widely expressed genes, 3) N50 length statistics, and 4) the total number of unigenes. We provide benchmark Illumina transcriptome data and introduce SCERNA, a broadly applicable modular protocol for de novo assembly improvement. Finally, our de novo assembly of the Arabidopsis leaf transcriptome revealed ~20 putative Arabidopsis genes lacking in the current annotation. PMID:26731733

  4. Sequestration-Mediated Downregulation of de Novo Purine Biosynthesis by AMPK.

    PubMed

    Schmitt, Danielle L; Cheng, Yun-Ju; Park, Junyong; An, Songon

    2016-07-15

    Dynamic partitioning of de novo purine biosynthetic enzymes into multienzyme compartments, purinosomes, has been associated with increased flux of de novo purine biosynthesis in human cells. However, we do not know of a mechanism by which de novo purine biosynthesis would be downregulated in cells. We have investigated the functional role of AMP-activated protein kinase (AMPK) in the regulation of de novo purine biosynthesis because of its regulatory action on lipid and carbohydrate biosynthetic pathways. Using pharmacological AMPK activators, we have monitored subcellular localizations of six pathway enzymes tagged with green fluorescent proteins under time-lapse fluorescence single-cell microscopy. We revealed that only one out of six pathway enzymes, formylglycinamidine ribonucleotide synthase (FGAMS), formed spatially distinct cytoplasmic granules after treatment with AMPK activators, indicating the formation of single-enzyme self-assemblies. In addition, subsequent biophysical studies using fluorescence recovery after photobleaching showed that the diffusion kinetics of FGAMS were slower when it localized inside the self-assemblies than within the purinosomes. Importantly, high-performance liquid chromatographic studies revealed that the formation of AMPK-promoted FGAMS self-assembly caused the reduction of purine metabolites in HeLa cells, indicating the downregulation of de novo purine biosynthesis. Collectively, we demonstrate here that the spatial sequestration of FGAMS by AMPK is a mechanism by which de novo purine biosynthesis is downregulated in human cells. PMID:27128383

  5. Role of de novo biosynthesis in ecosystem scale monoterpene emissions from a boreal Scots pine forest

    NASA Astrophysics Data System (ADS)

    Taipale, R.; Kajos, M. K.; Patokoski, J.; Rantala, P.; Ruuskanen, T. M.; Rinne, J.

    2010-11-01

    Monoterpene emissions from Scots pine have traditionally been assumed to originate as evaporation from specialized storage pools. More recently, the significance of de novo emissions, originating directly from monoterpene biosynthesis, has been recognized. To study the role of biosynthesis in the ecosystem scale, we measured monoterpene emissions from a Scots pine dominated forest in southern Finland using the disjunct eddy covariance method combined with proton transfer reaction mass spectrometry. The interpretation of the measurements was based on a hybrid emission algorithm describing both de novo and pool emissions. During the measurement period May-August 2007, the monthly medians of daytime emissions were 170, 280, 180, and 180 μg m-2 h-1. The emission potential for both de novo and pool emissions exhibited a decreasing summertime trend. The ratio of the de novo emission potential to the total emission potential varied between 30% and 46%. Although the monthly changes were not significant, the ratio always differed statistically from zero, i.e., the role of de novo biosynthesis was evident. The hybrid approach showed promising potential for the improvement of the ecosystem scale emission modelling. Given this feature and the significant role of biosynthesis, we recommend incorporating both de novo and pool emissions into the monoterpene emission algorithms for Scots pine dominated forests.

  6. TransRate: reference-free quality assessment of de novo transcriptome assemblies.

    PubMed

    Smith-Unna, Richard; Boursnell, Chris; Patro, Rob; Hibberd, Julian M; Kelly, Steven

    2016-08-01

    TransRate is a tool for reference-free quality assessment of de novo transcriptome assemblies. Using only the sequenced reads and the assembly as input, we show that multiple common artifacts of de novo transcriptome assembly can be readily detected. These include chimeras, structural errors, incomplete assembly, and base errors. TransRate evaluates these errors to produce a diagnostic quality score for each contig, and these contig scores are integrated to evaluate whole assemblies. Thus, TransRate can be used for de novo assembly filtering and optimization as well as comparison of assemblies generated using different methods from the same input reads. Applying the method to a data set of 155 published de novo transcriptome assemblies, we deconstruct the contribution that assembly method, read length, read quantity, and read quality make to the accuracy of de novo transcriptome assemblies and reveal that variance in the quality of the input data explains 43% of the variance in the quality of published de novo transcriptome assemblies. Because TransRate is reference-free, it is suitable for assessment of assemblies of all types of RNA, including assemblies of long noncoding RNA, rRNA, mRNA, and mixed RNA samples. PMID:27252236

  7. De novo donor-specific anti-HLA antibodies mediated rejection in liver-transplant patients.

    PubMed

    Del Bello, Arnaud; Congy-Jolivet, Nicolas; Danjoux, Marie; Muscari, Fabrice; Lavayssière, Laurence; Esposito, Laure; Cardeau-Desangles, Isabelle; Guitard, Joëlle; Dörr, Gaëlle; Milongo, David; Suc, Bertrand; Duffas, Jean Pierre; Alric, Laurent; Bureau, Christophe; Guilbeau-Frugier, Céline; Rostaing, Lionel; Kamar, Nassim

    2015-12-01

    The incidence and consequences of de novo donor-specific anti-HLA antibodies (DSAs) after liver transplantation (LT) are not well known. We investigated the incidence, risk factors, and complications associated with de novo DSAs in this setting. A total of 152 de novo liver-transplant patients, without preformed anti-HLA DSAs, were tested for anti-HLA antibodies, with single-antigen bead technology, before, at transplantation, at 1, 3, 6 and 12 months after transplantation, and thereafter annually and at each time they presented with increased liver-enzyme levels until the last follow-up, that is, 34 (1.5-77) months. Twenty-one patients (14%) developed de novo DSAs. Of these, five patients had C1q-binding DSAs (24%). Younger age, low exposure to calcineurin inhibitors, and noncompliance were predictive factors for de novo DSA formation. Nine of the 21 patients (43%) with de novo DSAs experienced an acute antibody-mediated rejection (AMR). Positive C4d staining was more frequently observed in liver biopsies of patients with AMR (9/9 vs. 1/12, P < 0.0001). Eight patients received a B-cell targeting therapy, and one patient received polyclonal antibodies. Only one patient required retransplantation. Patient- and graft-survival rates did not differ between patients with and without DSAs. In conclusion, liver-transplant patients with liver abnormalities should be screened for DSAs and AMR. PMID:26303035

  8. De novo mutations in histone modifying genes in congenital heart disease

    PubMed Central

    Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D.; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; DePalma, Steve; Fakhro, Khalid A.; Glessner, Joseph; Hakonarson, Hakon; Italia, Michael; Kaltman, Jonathan R.; Kaski, Juan; Kim, Richard; Kline, Jennie K.; Lee, Teresa; Leipzig, Jeremy; Lopez, Alexander; Mane, Shrikant M.; Mitchell, Laura E.; Newburger, Jane W.; Parfenov, Michael; Pe'er, Itsik; Porter, George; Roberts, Amy; Sachidanandam, Ravi; Sanders, Stephan J.; Seiden, Howard S.; State, Mathew W.; Subramanian, Sailakshmi; Tikhonova, Irina R.; Wang, Wei; Warburton, Dorothy; White, Peter S.; Williams, Ismee A.; Zhao, Hongyu; Seidman, Jonathan G.; Brueckner, Martina; Chung, Wendy K.; Gelb, Bruce D.; Goldmuntz, Elizabeth; Seidman, Christine E.; Lifton, Richard P.

    2013-01-01

    Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for damaging mutations. Similar odds ratios were seen across major classes of severe CHD. We found a marked excess of de novo mutations in genes involved in production, removal or reading of H3K4 methylation (H3K4me), or ubiquitination of H2BK120, which is required for H3K4 methylation2–4. There were also two de novo mutations in SMAD2; SMAD2 signaling in the embryonic left-right organizer induces demethylation of H3K27me5. H3K4me and H3K27me mark `poised' promoters and enhancers that regulate expression of key developmental genes6. These findings implicate de novo point mutations in several hundred genes that collectively contribute to ~10% of severe CHD. PMID:23665959

  9. TransRate: reference-free quality assessment of de novo transcriptome assemblies

    PubMed Central

    Smith-Unna, Richard; Boursnell, Chris; Patro, Rob; Hibberd, Julian M.; Kelly, Steven

    2016-01-01

    TransRate is a tool for reference-free quality assessment of de novo transcriptome assemblies. Using only the sequenced reads and the assembly as input, we show that multiple common artifacts of de novo transcriptome assembly can be readily detected. These include chimeras, structural errors, incomplete assembly, and base errors. TransRate evaluates these errors to produce a diagnostic quality score for each contig, and these contig scores are integrated to evaluate whole assemblies. Thus, TransRate can be used for de novo assembly filtering and optimization as well as comparison of assemblies generated using different methods from the same input reads. Applying the method to a data set of 155 published de novo transcriptome assemblies, we deconstruct the contribution that assembly method, read length, read quantity, and read quality make to the accuracy of de novo transcriptome assemblies and reveal that variance in the quality of the input data explains 43% of the variance in the quality of published de novo transcriptome assemblies. Because TransRate is reference-free, it is suitable for assessment of assemblies of all types of RNA, including assemblies of long noncoding RNA, rRNA, mRNA, and mixed RNA samples. PMID:27252236

  10. The Face-to-Face Light Detection Paradigm: A New Methodology for Investigating Visuospatial Attention Across Different Face Regions in Live Face-to-Face Communication Settings

    PubMed Central

    Thompson, Laura A.; Malloy, Daniel M.; Cone, John M.; Hendrickson, David L.

    2009-01-01

    We introduce a novel paradigm for studying the cognitive processes used by listeners within interactive settings. This paradigm places the talker and the listener in the same physical space, creating opportunities for investigations of attention and comprehension processes taking place during interactive discourse situations. An experiment was conducted to compare results from previous research using videotaped stimuli to those obtained within the live face-to-face task paradigm. A headworn apparatus is used to briefly display LEDs on the talker’s face in four locations as the talker communicates with the participant. In addition to the primary task of comprehending speeches, participants make a secondary task light detection response. In the present experiment, the talker gave non-emotionally-expressive speeches that were used in past research with videotaped stimuli. Signal detection analysis was employed to determine which areas of the face received the greatest focus of attention. Results replicate previous findings using videotaped methods. PMID:21113354

  11. Neural microgenesis of personally familiar face recognition

    PubMed Central

    Ramon, Meike; Vizioli, Luca; Liu-Shuang, Joan; Rossion, Bruno

    2015-01-01

    Despite a wealth of information provided by neuroimaging research, the neural basis of familiar face recognition in humans remains largely unknown. Here, we isolated the discriminative neural responses to unfamiliar and familiar faces by slowly increasing visual information (i.e., high-spatial frequencies) to progressively reveal faces of unfamiliar or personally familiar individuals. Activation in ventral occipitotemporal face-preferential regions increased with visual information, independently of long-term face familiarity. In contrast, medial temporal lobe structures (perirhinal cortex, amygdala, hippocampus) and anterior inferior temporal cortex responded abruptly when sufficient information for familiar face recognition was accumulated. These observations suggest that following detailed analysis of individual faces in core posterior areas of the face-processing network, familiar face recognition emerges categorically in medial temporal and anterior regions of the extended cortical face network. PMID:26283361

  12. Prioritized Detection of Personally Familiar Faces.

    PubMed

    Gobbini, Maria Ida; Gors, Jason D; Halchenko, Yaroslav O; Rogers, Courtney; Guntupalli, J Swaroop; Hughes, Howard; Cipolli, Carlo

    2013-01-01

    We investigated whether personally familiar faces are preferentially processed in conditions of reduced attentional resources and in the absence of conscious awareness. In the first experiment, we used Rapid Serial Visual Presentation (RSVP) to test the susceptibility of familiar faces and faces of strangers to the attentional blink. In the second experiment, we used continuous flash interocular suppression to render stimuli invisible and measured face detection time for personally familiar faces as compared to faces of strangers. In both experiments we found an advantage for detection of personally familiar faces as compared to faces of strangers. Our data suggest that the identity of faces is processed with reduced attentional resources and even in the absence of awareness. Our results show that this facilitated processing of familiar faces cannot be attributed to detection of low-level visual features and that a learned unique configuration of facial features can influence preconscious perceptual processing. PMID:23805248

  13. Social Cognition in Williams Syndrome: Face Tuning.

    PubMed

    Pavlova, Marina A; Heiz, Julie; Sokolov, Alexander N; Barisnikov, Koviljka

    2016-01-01

    Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions), the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing. PMID:27531986

  14. Social Cognition in Williams Syndrome: Face Tuning

    PubMed Central

    Pavlova, Marina A.; Heiz, Julie; Sokolov, Alexander N.; Barisnikov, Koviljka

    2016-01-01

    Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions), the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing. PMID:27531986

  15. Holocene Evolution of Qing'ao Embayment, Southern China

    NASA Astrophysics Data System (ADS)

    Switzer, A. D.; Yu, F.; Chen, B.; Zheng, Z.; Wang, D.

    2012-12-01

    The Holocene evolution of the Qing'ao embayment, Nan'ao Island, southern China, is primarily the result of the interaction of tectonic activity, climate variation and changes in relative sea level. Characterizing the evolutionary history of the relatively small Qing'ao embayment during the Holocene will help improve our understanding of the driving mechanisms of coastal evolution in the area. To reconstruct the Holocene evolution history we analyzed the grain size, loss on ignition (LOI) and carbonate content of modern and core samples. Modern environmental analogs were examined in surface samples ranging from the coastal sand dunes through to offshore. The results of these modern samples suggest that dune sand (mean size of ~2.33Phi) are slightly finer than beach sand (mean size of 2.13Phi), and nearshore sediment is much coarser than offshore sediment (mean size of 5.90Phi). This modern analogs were then applied to 8 percussion cores from the Qing'ao embayment. A chronological framework obtained from 11 radiocarbon samples suggests that the embayment started to accept deposition since early Holocene, ~8500 cal. yr. BP. Three main phases of Holocene evolution were identified. A basin wide shell-rich sand sheet forms the basal Holocene facies and overlies clay rich presumably Pleistocene sediments or bedrock. This facies records an initial sedimentation phase associated with the early Holocene transgression into the embayment (~8500-6000 cal. yr. BP). The basal facies grades upward to a mixed sandy-mud facies which includes lagoonal clayey-silts, flood tide delta sands and records an estuarine phase lasting from ~6000-1000 cal. yr. BP that appears coincident with falling regional sea levels. Coincident with the estuarine phase is a period of coastal dune building recorded as yet undated massive sands that are found in the upper fill. Toward the end of the estuarine phase it is apparent that dune migration has restricted the lagoon entrance and that this was

  16. The changing face of beauty.

    PubMed

    Romm, S

    1989-01-01

    Beautiful faces, like clothing and body conformation, go in and out of fashion. Yet, certain women in every era are considered truly beautiful. Who, then, sets standards of facial beauty and how are women chosen as representative of an ideal? Identifying great beauties is easier than explaining why they are chosen, but answers to these elusive questions are suggested in art, literature, and a review of past events. PMID:2662717

  17. Wavelet networks for face processing

    NASA Astrophysics Data System (ADS)

    Krüger, V.; Sommer, G.

    2002-06-01

    Wavelet networks (WNs) were introduced in 1992 as a combination of artificial neural radial basis function (RBF) networks and wavelet decomposition. Since then, however, WNs have received only a little attention. We believe that the potential of WNs has been generally underestimated. WNs have the advantage that the wavelet coefficients are directly related to the image data through the wavelet transform. In addition, the parameters of the wavelets in the WNs are subject to optimization, which results in a direct relation between the represented function and the optimized wavelets, leading to considerable data reduction (thus making subsequent algorithms much more efficient) as well as to wavelets that can be used as an optimized filter bank. In our study we analyze some WN properties and highlight their advantages for object representation purposes. We then present a series of results of experiments in which we used WNs for face tracking. We exploit the efficiency that is due to data reduction for face recognition and face-pose estimation by applying the optimized-filter-bank principle of the WNs.

  18. Crossing the “Uncanny Valley”: adaptation to cartoon faces can influence perception of human faces

    PubMed Central

    Chen, Haiwen; Russell, Richard; Nakayama, Ken; Livingstone, Margaret

    2013-01-01

    Adaptation can shift what individuals identify to be a prototypical or attractive face. Past work suggests that low-level shape adaptation can affect high-level face processing but is position dependent. Adaptation to distorted images of faces can also affect face processing but only within sub-categories of faces, such as gender, age, and race/ethnicity. This study assesses whether there is a representation of face that is specific to faces (as opposed to all shapes) but general to all kinds of faces (as opposed to subcategories) by testing whether adaptation to one type of face can affect perception of another. Participants were shown cartoon videos containing faces with abnormally large eyes. Using animated videos allowed us to simulate naturalistic exposure and avoid positional shape adaptation. Results suggest that adaptation to cartoon faces with large eyes shifts preferences for human faces toward larger eyes, supporting the existence of general face representations. PMID:20465173

  19. Phenolic Amides Are Potent Inhibitors of De Novo Nucleotide Biosynthesis

    PubMed Central

    Pisithkul, Tippapha; Jacobson, Tyler B.; O'Brien, Thomas J.; Stevenson, David M.

    2015-01-01

    An outstanding challenge toward efficient production of biofuels and value-added chemicals from plant biomass is the impact that lignocellulose-derived inhibitors have on microbial fermentations. Elucidating the mechanisms that underlie their toxicity is critical for developing strategies to overcome them. Here, using Escherichia coli as a model system, we investigated the metabolic effects and toxicity mechanisms of feruloyl amide and coumaroyl amide, the predominant phenolic compounds in ammonia-pretreated biomass hydrolysates. Using metabolomics, isotope tracers, and biochemical assays, we showed that these two phenolic amides act as potent and fast-acting inhibitors of purine and pyrimidine biosynthetic pathways. Feruloyl or coumaroyl amide exposure leads to (i) a rapid buildup of 5-phosphoribosyl-1-pyrophosphate (PRPP), a key precursor in nucleotide biosynthesis, (ii) a rapid decrease in the levels of pyrimidine biosynthetic intermediates, and (iii) a long-term generalized decrease in nucleotide and deoxynucleotide levels. Tracer experiments using 13C-labeled sugars and [15N]ammonia demonstrated that carbon and nitrogen fluxes into nucleotides and deoxynucleotides are inhibited by these phenolic amides. We found that these effects are mediated via direct inhibition of glutamine amidotransferases that participate in nucleotide biosynthetic pathways. In particular, feruloyl amide is a competitive inhibitor of glutamine PRPP amidotransferase (PurF), which catalyzes the first committed step in de novo purine biosynthesis. Finally, external nucleoside supplementation prevents phenolic amide-mediated growth inhibition by allowing nucleotide biosynthesis via salvage pathways. The results presented here will help in the development of strategies to overcome toxicity of phenolic compounds and facilitate engineering of more efficient microbial producers of biofuels and chemicals. PMID:26070680

  20. Further Insights into Brevetoxin Metabolism by de Novo Radiolabeling

    PubMed Central

    Calabro, Kevin; Guigonis, Jean-Marie; Teyssié, Jean-Louis; Oberhänsli, François; Goudour, Jean-Pierre; Warnau, Michel; Dechraoui Bottein, Marie-Yasmine; Thomas, Olivier P.

    2014-01-01

    The toxic dinoflagellate Karenia brevis, responsible for early harmful algal blooms in the Gulf of Mexico, produces many secondary metabolites, including potent neurotoxins called brevetoxins (PbTx). These compounds have been identified as toxic agents for humans, and they are also responsible for the deaths of several marine organisms. The overall biosynthesis of these highly complex metabolites has not been fully ascertained, even if there is little doubt on a polyketide origin. In addition to gaining some insights into the metabolic events involved in the biosynthesis of these compounds, feeding studies with labeled precursors helps to discriminate between the de novo biosynthesis of toxins and conversion of stored intermediates into final toxic products in the response to environmental stresses. In this context, the use of radiolabeled precursors is well suited as it allows working with the highest sensitive techniques and consequently with a minor amount of cultured dinoflagellates. We were then able to incorporate [U-14C]-acetate, the renowned precursor of the polyketide pathway, in several PbTx produced by K. brevis. The specific activities of PbTx-1, -2, -3, and -7, identified by High-Resolution Electrospray Ionization Mass Spectrometer (HRESIMS), were assessed by HPLC-UV and highly sensitive Radio-TLC counting. We demonstrated that working at close to natural concentrations of acetate is a requirement for biosynthetic studies, highlighting the importance of highly sensitive radiolabeling feeding experiments. Quantification of the specific activity of the four, targeted toxins led us to propose that PbTx-1 and PbTx-2 aldehydes originate from oxidation of the primary alcohols of PbTx-7 and PbTx-3, respectively. This approach will open the way for a better comprehension of the metabolic pathways leading to PbTx but also to a better understanding of their regulation by environmental factors. PMID:24918358

  1. Phenolic Amides Are Potent Inhibitors of De Novo Nucleotide Biosynthesis.

    PubMed

    Pisithkul, Tippapha; Jacobson, Tyler B; O'Brien, Thomas J; Stevenson, David M; Amador-Noguez, Daniel

    2015-09-01

    An outstanding challenge toward efficient production of biofuels and value-added chemicals from plant biomass is the impact that lignocellulose-derived inhibitors have on microbial fermentations. Elucidating the mechanisms that underlie their toxicity is critical for developing strategies to overcome them. Here, using Escherichia coli as a model system, we investigated the metabolic effects and toxicity mechanisms of feruloyl amide and coumaroyl amide, the predominant phenolic compounds in ammonia-pretreated biomass hydrolysates. Using metabolomics, isotope tracers, and biochemical assays, we showed that these two phenolic amides act as potent and fast-acting inhibitors of purine and pyrimidine biosynthetic pathways. Feruloyl or coumaroyl amide exposure leads to (i) a rapid buildup of 5-phosphoribosyl-1-pyrophosphate (PRPP), a key precursor in nucleotide biosynthesis, (ii) a rapid decrease in the levels of pyrimidine biosynthetic intermediates, and (iii) a long-term generalized decrease in nucleotide and deoxynucleotide levels. Tracer experiments using (13)C-labeled sugars and [(15)N]ammonia demonstrated that carbon and nitrogen fluxes into nucleotides and deoxynucleotides are inhibited by these phenolic amides. We found that these effects are mediated via direct inhibition of glutamine amidotransferases that participate in nucleotide biosynthetic pathways. In particular, feruloyl amide is a competitive inhibitor of glutamine PRPP amidotransferase (PurF), which catalyzes the first committed step in de novo purine biosynthesis. Finally, external nucleoside supplementation prevents phenolic amide-mediated growth inhibition by allowing nucleotide biosynthesis via salvage pathways. The results presented here will help in the development of strategies to overcome toxicity of phenolic compounds and facilitate engineering of more efficient microbial producers of biofuels and chemicals. PMID:26070680

  2. Online or Face to Face? A Comparison of Two Methods of Training Professionals

    ERIC Educational Resources Information Center

    Dillon, Kristin; Dworkin, Jodi; Gengler, Colleen; Olson, Kathleen

    2008-01-01

    Online courses offer benefits over face-to-face courses such as accessibility, affordability, and flexibility. Literature assessing the effectiveness of face-to-face and online courses is growing, but findings remain inconclusive. This study compared evaluations completed by professionals who had taken a research update short course either face to…

  3. Familiar Face Recognition in Children with Autism: The Differential Use of Inner and Outer Face Parts

    ERIC Educational Resources Information Center

    Wilson, Rebecca; Pascalis, Olivier; Blades, Mark

    2007-01-01

    We investigated whether children with autistic spectrum disorders (ASD) have a deficit in recognising familiar faces. Children with ASD were given a forced choice familiar face recognition task with three conditions: full faces, inner face parts and outer face parts. Control groups were children with developmental delay (DD) and typically…

  4. The influence of emotion on face processing.

    PubMed

    Xie, Weizhen; Zhang, Weiwei

    2016-01-01

    According to the broaden-and-build theory, positive emotions broaden one's thought-action repertoire, which may manifest as a widened attentional scope in cognitive processing. The present study directly tests this hypothesis by examining the influences of induced emotions (positive, neutral and negative) on holistic processing of face (Experiment 1) and face discrimination (Experiment 2). In both experiments, emotions induced with images from the International Affective Picture System significantly interacted with face processing. That is, positive emotions engendered greater holistic face encoding in a composite-face task in Experiment 1 and more accurate face discrimination in Experiment 2, relative to the neutral condition. In contrast, negative emotions impaired holistic face encoding in the composite-face task and reduced face discrimination accuracy. Taken together, these results provide further support for the attentional broadening effect of positive affect by demonstrating that induced positive emotions facilitate holistic/configural processing. PMID:25621898

  5. Face feature processor on mobile service robot

    NASA Astrophysics Data System (ADS)

    Ahn, Ho Seok; Park, Myoung Soo; Na, Jin Hee; Choi, Jin Young

    2005-12-01

    In recent years, many mobile service robots have been developed. These robots are different from industrial robots. Service robots were confronted to unexpected changes in the human environment. So many capabilities were needed to service mobile robot, for example, the capability to recognize people's face and voice, the capability to understand people's conversation, and the capability to express the robot's thinking etc. This research considered face detection, face tracking and face recognition from continuous camera image. For face detection module, it used CBCH algorithm using openCV library from Intel Corporation. For face tracking module, it used the fuzzy controller to control the pan-tilt camera movement smoothly with face detection result. A PCA-FX, which adds class information to PCA, was used for face recognition module. These three procedures were called face feature processor, which were implemented on mobile service robot OMR to verify.

  6. Diffraction limited operation with ARGOS: a hybrid AO system

    NASA Astrophysics Data System (ADS)

    Bonaglia, M.; Busoni, L.; Quirós-Pacheco, F.; Esposito, S.

    2010-07-01

    ARGOS, the Laser Guide Star (LGS) facility of the Large Binocular Telescope (LBT), implements a Ground Layer Adaptive Optics (GLAO) system, using 3 low-altitude beacons, to improve the resolution over the 4'×4' FoV of the imager and Multi Object Spectrograph (MOS) LUCIFER. In this paper we discuss the performance and the reconstruction scheme of an hybrid AO system using the ARGOS Rayleigh beacons complemented with a single faint high-altitude star (NGS or sodium beacon) to sense the turbulence of the upper atmosphere allowing an high degree of on-axis correction. With the ARGOS system, the NGS-upgrade can be immediately implemented at LBT using the already existing Pyramid WFS offering performance similar to the NGS AO system with the advantage of a larger sky coverage.

  7. Face Recognition Increases during Saccade Preparation

    PubMed Central

    Lin, Hai; Rizak, Joshua D.; Ma, Yuan-ye; Yang, Shang-chuan; Chen, Lin; Hu, Xin-tian

    2014-01-01

    Face perception is integral to human perception system as it underlies social interactions. Saccadic eye movements are frequently made to bring interesting visual information, such as faces, onto the fovea for detailed processing. Just before eye movement onset, the processing of some basic features, such as the orientation, of an object improves at the saccade landing point. Interestingly, there is also evidence that indicates faces are processed in early visual processing stages similar to basic features. However, it is not known whether this early enhancement of processing includes face recognition. In this study, three experiments were performed to map the timing of face presentation to the beginning of the eye movement in order to evaluate pre-saccadic face recognition. Faces were found to be similarly processed as simple objects immediately prior to saccadic movements. Starting ∼ 120 ms before a saccade to a target face, independent of whether or not the face was surrounded by other faces, the face recognition gradually improved and the critical spacing of the crowding decreased as saccade onset was approaching. These results suggest that an upcoming saccade prepares the visual system for new information about faces at the saccade landing site and may reduce the background in a crowd to target the intended face. This indicates an important role of pre-saccadic eye movement signals in human face recognition. PMID:24671174

  8. High-Resolution Imaging of Asteroids/Satellites with AO

    NASA Astrophysics Data System (ADS)

    Merline, William

    2012-02-01

    We propose to make high-resolution observations of asteroids using AO, to measure size, shape, and pole position (spin vectors), and/or to search for satellites. We have demonstrated that AO imaging allows determination of the pole/dimensions in 1 or 2 nights on a single target, rather than the years of observations with lightcurve inversion techniques that only yield poles and axial ratios, not true dimensions. Our new technique (KOALA) combines AO imaging with lightcurve and occultation data for optimum size/shape determinations. We request that LGS be available for faint targets, but using NGS AO, we will measure several large and intermediate asteroids that are favorably placed in spring/summer of 2012 for size/shape/pole. Accurately determining the volume from the often-irregular shape allows us to derive densities to much greater precision in cases where the mass is known, e.g., from the presence of a satellite. We will search several d! ozen asteroids for the presence of satellites, particularly in under-studied populations, particularly NEOs (we have recently achieved the first-ever optical image of an NEO binary [Merline et al. 2008b, IAUC 8977]). Satellites provide a real-life lab for testing collisional models. We will search for satellites around special objects at the request of lightcurve observers, and we will make a search for debris in the vicinity of Pluto, in support of the New Horizons mission. Our shape/size work requires observations over most of a full rotation period (typically several hours).

  9. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

    PubMed Central

    Appenzeller, Silke; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Dimova, Petia; Djémié, Tania; Gormley, Padhraig; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Kuhlenbäumer, Gregor; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Møller, Rikke S.; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Pendziwiat, Manuela; Robbiano, Angela; Roelens, Filip; Rosenow, Felix; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weber, Yvonne; Weckhuysen, Sarah; Zara, Federico; Abou-Khalil, Bassel; Alldredge, Brian K.; Andermann, Eva; Andermann, Frederick; Amron, Dina; Bautista, Jocelyn F.; Berkovic, Samuel F.; Bluvstein, Judith; Boro, Alex; Cascino, Gregory; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P.; Fiol, Miguel; Fountain, Nathan B.; French, Jacqueline; Friedman, Daniel; Geller, Eric B.; Glauser, Tracy; Glynn, Simon; Haas, Kevin; Haut, Sheryl R.; Hayward, Jean; Helmers, Sandra L.; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E.; Knowlton, Robert C.; Kossoff, Eric H.; Kuperman, Rachel; Kuzniecky, Ruben; Lowenstein, Daniel H.; McGuire, Shannon M.; Motika, Paul V.; Novotny, Edward J.; Ottman, Ruth; Paolicchi, Juliann M.; Parent, Jack; Park, Kristen; Poduri, Annapurna; Sadleir, Lynette; Scheffer, Ingrid E.; Shellhaas, Renée A.; Sherr, Elliott; Shih, Jerry J.; Singh, Rani; Sirven, Joseph; Smith, Michael C.; Sullivan, Joe; Thio, Liu Lin; Venkat, Anu; Vining, Eileen P.G.; Von Allmen, Gretchen K.; Weisenberg, Judith L.; Widdess-Walsh, Peter; Winawer, Melodie R.; Allen, Andrew S.; Berkovic, Samuel F.; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Han, Yujun; Heinzen, Erin L.; Johnson, Michael R.; Kuzniecky, Ruben; Lowenstein, Daniel H.; Marson, Anthony G.; Mefford, Heather C.; Nieh, Sahar Esmaeeli; O’Brien, Terence J.; Ottman, Ruth; Petrou, Stephen; Petrovski, Slavé; Poduri, Annapurna; Ruzzo, Elizabeth K.; Scheffer, Ingrid E.; Sherr, Elliott

    2014-01-01

    Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the “classical” epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium. In this expanded cohort, we find 429 de novo mutations, including de novo mutations in DNM1 in five individuals and de novo mutations in GABBR2, FASN, and RYR3 in two individuals each. Unlike previous studies, this cohort is sufficiently large to show a significant excess of de novo mutations in epileptic encephalopathy probands compared to the general population using a likelihood analysis (p = 8.2 × 10−4), supporting a prominent role for de novo mutations in epileptic encephalopathies. We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. Strikingly, 75% of mutations in these probands are predicted to disrupt a protein involved in regulating synaptic transmission, and there is a significant enrichment of de novo mutations in genes in this pathway in the entire cohort as well. These findings emphasize an important role for synaptic dysregulation in epileptic encephalopathies, above and beyond that caused by ion channel dysfunction. PMID:25262651

  10. Prevalence and origin of De Novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a De Novo duplication with a maternal origin

    SciTech Connect

    Blair, I.P.; Nash, J.; Gordon, M.J.; Nicholson, G.A.

    1996-03-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11.2, which segregates with the disease. In order to investigate the prevalence of de novo CMT1A duplications, this study examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. By taking into account the ascertainment of families, it can be estimated that {>=}10% of autosomal dominant CMT1 families are due to de novo duplications. The CMT1A duplication is thought to be the product of unequal crossing over between parental chromosome 17 homologues during meiosis. Polymorphic markers from within the duplicated region were used to determine the parental origin of these de novo duplications in eight informative families. Seven were of paternal and one of maternal origin. This study represents the first report of a de novo duplication with a maternal origin and indicates that it is not a phenomenon associated solely with male meioses. Recombination fractions for the region duplicated in CMT1A are larger in females than in males. That suggests that oogenesis may be afforded greater protection from misalignment during synapsis, and/or that there may be lower activity of those factors or mechanisms that lead to unequal crossing over at the CMT1A locus. 41 refs., 2 figs.

  11. LDEF results for polymer matrix composite experiment AO 180

    NASA Technical Reports Server (NTRS)

    Tennyson, R. C.

    1992-01-01

    This report represents a summary of the results obtained to-date on a polymer matrix composite experiment (AO 180) located at station D-12, about 82 deg off the 'ram' direction. Different material systems comprised of graphite, boron, and aramid (Kevlar) fiber reinforcements were studied. Although previous results were presented on in-situ thermal-vacuum cycling effects, particularly dimensional changes associated with outgassing, additional comparative data will be shown from ground-based tests on control and flight samples. The system employed was fully automated for thermal-vacuum cycling using a laser interferometer for monitoring displacements. Erosion of all three classes of materials due to atomic oxygen (AO) will also be discussed, including angle of incidence effects. Data from this experiment will be compared to published results for similar materials in other LDEF experiments. Composite materials' erosion yields will be presented on an AO design nomogram useful for estimating total material loss for given exposure conditions in low Earth orbit (LEO). Optical properties of these materials will also be compared with control samples. A survey of the damage caused by micrometeoroids/debris impacts will be addressed as they relate to polymer matrix composites. Correlations between hole size and damage pattern will be given. Reference to a new nomogram for estimating the number distribution of micrometeoroid/debris impacts for a given space structure as a function of time in LEO will be addressed based on LDEF data.

  12. Face-to-Face or Not-to-Face: A Technology Preference for Communication

    PubMed Central

    Darmawan, Bobby; Mohamed Ariffin, Mohd Yahya

    2014-01-01

    Abstract This study employed the Model of Technology Preference (MTP) to explain the relationship of the variables as the antecedents of behavioral intention to adopt a social networking site (SNS) for communication. Self-administered questionnaires were distributed to SNS account users using paper-based and web-based surveys that led to 514 valid responses. The data were analyzed using structural equation modeling (SEM). The results show that two out of three attributes of the attribute-based preference (ATRP) affect attitude-based preference (ATTP). The data support the hypotheses that perceived enjoyment and social presence are predictors of ATTP. In this study, the findings further indicated that ATTP has no relationship with the behavioral intention of using SNS, but it has a relationship with the attitude of using SNS. SNS development should provide features that ensure enjoyment and social presence for users to communicate instead of using the traditional face-to-face method of communication. PMID:25405782

  13. Face-to-face or not-to-face: A technology preference for communication.

    PubMed

    Jaafar, Noor Ismawati; Darmawan, Bobby; Mohamed Ariffin, Mohd Yahya

    2014-11-01

    This study employed the Model of Technology Preference (MTP) to explain the relationship of the variables as the antecedents of behavioral intention to adopt a social networking site (SNS) for communication. Self-administered questionnaires were distributed to SNS account users using paper-based and web-based surveys that led to 514 valid responses. The data were analyzed using structural equation modeling (SEM). The results show that two out of three attributes of the attribute-based preference (ATRP) affect attitude-based preference (ATTP). The data support the hypotheses that perceived enjoyment and social presence are predictors of ATTP. In this study, the findings further indicated that ATTP has no relationship with the behavioral intention of using SNS, but it has a relationship with the attitude of using SNS. SNS development should provide features that ensure enjoyment and social presence for users to communicate instead of using the traditional face-to-face method of communication. PMID:25405782

  14. Advanced Face Gear Surface Durability Evaluations

    NASA Technical Reports Server (NTRS)

    Lewicki, David G.; Heath, Gregory F.

    2016-01-01

    The surface durability life of helical face gears and isotropic super-finished (ISF) face gears was investigated. Experimental fatigue tests were performed at the NASA Glenn Research Center. Endurance tests were performed on 10 sets of helical face gears in mesh with tapered involute helical pinions, and 10 sets of ISF-enhanced straight face gears in mesh with tapered involute spur pinions. The results were compared to previous tests on straight face gears. The life of the ISF configuration was slightly less than that of previous tests on straight face gears. The life of the ISF configuration was slightly greater than that of the helical configuration.

  15. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

    PubMed

    Preiksaitiene, E; Männik, K; Dirse, V; Utkus, A; Ciuladaite, Z; Kasnauskiene, J; Kurg, A; Kučinskas, V

    2012-11-01

    We report on a de novo 17q21.33 microdeletion, 1.8 Mb in size, detected in a patient with mild intellectual disability, growth retardation, poor weight gain, microcephaly, long face, large beaked nose, thick lower lip, micrognathia and other dysmorphic features. The deletion was detected by whole-genome genotyping BeadChip assay and involves the genomic region between 45,682,246 and 47,544,816 bp on chromosome 17. Among the 24 RefSeq genes included in this deletion are the CA10 and CACNA1G genes that are involved in brain development and neurological processes. A possible candidate gene for the prenatal and postnatal growth retardation is the CHAD gene, which product chondroadherin is a cartilage protein with cell binding properties. These three genes may be responsible for the patient's phenotype. PMID:22842074

  16. The Role of Familiarity on Viewpoint Adaptation for Self-Face and Other-Face Images.

    PubMed

    Nevi, Andrea; Cicali, Filippo; Caudek, Corrado

    2016-07-01

    An adaptation method was used to investigate whether self-face processing is dissociable from general face processing. We explored the viewpoint aftereffect with face images having different degrees of familiarity (never-before-seen faces, recently familiarized faces, personally familiar faces, and the participant's own face). A face viewpoint aftereffect occurs after prolonged viewing of a face viewed from one side, with the result that the perceived viewing direction of a subsequently presented face image shown near the frontal view is biased in a direction which is the opposite of the adapting orientation. We found that (1) the magnitude of the viewpoint aftereffect depends on the level of familiarity of the adapting and test faces, (2) a cross-identity transfer of the viewpoint aftereffect is found between all categories of faces, but not between an unfamiliar adaptor face and the self-face test, and (3) learning affects the processing of the self-face in greater measure than any other category of faces. These results highlight the importance of familiarity on the face aftereffects, but they also suggest the possibility of separate representations for the self-face, on the one side, and for highly familiar faces, on the other. PMID:27165718

  17. A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

    PubMed

    Palumbo, O; Mattina, T; Palumbo, P; Carella, M; Perrotta, C S

    2014-01-01

    Patients with Silver-Russell syndrome (SRS) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features. Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients; however, a large fraction of cases remains with unknown genetic etiology. Here, we describe the clinical and molecular findings of a patient with a phenotype invoking SRS showing intrauterine and postnatal growth retardation, psychomotor retardation, relative macrocephaly, slightly triangular face with pointed chin, clinodactyly, and a slight body asymmetry, in whom single-nucleotide polymorphism oligonucleotide array analysis led to the identification of a de novo 11p13 duplication containing many genes that could be functionally related with the observed clinical features. Many deletions of chromosome 11p13, resulting in WAGR (Wilms tumor, aniridia, genital anomalies, mental retardation) syndrome, have been described, while only few duplications spanning the same region have been reported so far. To our knowledge, this is the first reported case presenting a SRS carrier of an 11p13 duplication. We propose candidate genes for the observed traits, and in particular, we discuss the possible role of the involvement of 2 noncoding RNAs in the etiology of the phenotype. PMID:24550760

  18. The MUSE project face to face with reality

    NASA Astrophysics Data System (ADS)

    Caillier, P.; Accardo, M.; Adjali, L.; Anwand, H.; Bacon, Roland; Boudon, D.; Brotons, L.; Capoani, L.; Daguisé, E.; Dupieux, M.; Dupuy, C.; François, M.; Glindemann, A.; Gojak, D.; Hansali, G.; Hahn, T.; Jarno, A.; Kelz, A.; Koehler, C.; Kosmalski, J.; Laurent, F.; Le Floch, M.; Lizon, J.-L.; Loupias, M.; Manescau, A.; Migniau, J. E.; Monstein, C.; Nicklas, H.; Parès, L.; Pécontal-Rousset, A.; Piqueras, L.; Reiss, R.; Remillieux, A.; Renault, E.; Rupprecht, G.; Streicher, O.; Stuik, R.; Valentin, H.; Vernet, J.; Weilbacher, P.; Zins, G.

    2012-09-01

    MUSE (Multi Unit Spectroscopic Explorer) is a second generation instrument built for ESO (European Southern Observatory) to be installed in Chile on the VLT (Very Large Telescope). The MUSE project is supported by a European consortium of 7 institutes. After the critical turning point of shifting from the design to the manufacturing phase, the MUSE project has now completed the realization of its different sub-systems and should finalize its global integration and test in Europe. To arrive to this point many challenges had to be overcome, many technical difficulties, non compliances or procurements delays which seemed at the time overwhelming. Now is the time to face the results of our organization, of our strategy, of our choices. Now is the time to face the reality of the MUSE instrument. During the design phase a plan was provided by the project management in order to achieve the realization of the MUSE instrument in specification, time and cost. This critical moment in the project life when the instrument takes shape and reality is the opportunity to look not only at the outcome but also to see how well we followed the original plan, what had to be changed or adapted and what should have been.

  19. Social interest and the development of cortical face specialization: what autism teaches us about face processing.

    PubMed

    Grelotti, David J; Gauthier, Isabel; Schultz, Robert T

    2002-04-01

    Investigations of face processing in persons with an autism spectrum disorder (ASD) inform upon theories of the development of "normal" face processing, and the story that emerges challenges some models of the nature and origin of cortical face specialization. Individuals with an ASD possess deficits in face processing and a lack of a fusiform face area (FFA). Evidence from studies of ASD can be conceptualized best using an expertise framework of face processing rather than models that postulate a face module in the fusiform gyrus. Because persons with an ASD have reduced social interest, they may fail to develop cortical face specialization. Face specialization may develop in normal individuals because they are socially motivated to regard the face, and such motivation promotes expertise for faces. The amygdala is likely the key node in the system that marks objects as emotionally salient and could be crucial to the development of cortical face specialization. PMID:11891634

  20. SIMS chemical and isotopic analysis of impact features from LDEF experiments AO187-1 and AO187-2

    NASA Technical Reports Server (NTRS)

    Stadermann, Frank J.; Amari, Sachiko; Foote, John; Swan, Pat; Walker, Robert M.; Zinner, Ernst

    1995-01-01

    Previous secondary ion mass spectrometry (SIMS) studies of extended impact features from LDEF capture cell experiment AO187-2 showed that it is possible to distinguish natural and man-made particle impacts based on the chemical composition of projectile residues. The same measurement technique has now been applied to specially prepared gold target impacts from experiment AO187-1 in order to identify the origins of projectiles that left deposits too thin to be analyzed by conventional energy-dispersive x-ray (EDX) spectroscopy. The results indicate that SIMS may be the method of choice for the analysis of impact deposits on a variety of sample surfaces. SIMS was also used to determine the isotopic compositions of impact residues from several natural projectiles. Within the precision of the measurements all analyzed residues show isotopically normal compositions.

  1. Partial face recognition: alignment-free approach.

    PubMed

    Liao, Shengcai; Jain, Anil K; Li, Stan Z

    2013-05-01

    Numerous methods have been developed for holistic face recognition with impressive performance. However, few studies have tackled how to recognize an arbitrary patch of a face image. Partial faces frequently appear in unconstrained scenarios, with images captured by surveillance cameras or handheld devices (e.g., mobile phones) in particular. In this paper, we propose a general partial face recognition approach that does not require face alignment by eye coordinates or any other fiducial points. We develop an alignment-free face representation method based on Multi-Keypoint Descriptors (MKD), where the descriptor size of a face is determined by the actual content of the image. In this way, any probe face image, holistic or partial, can be sparsely represented by a large dictionary of gallery descriptors. A new keypoint descriptor called Gabor Ternary Pattern (GTP) is also developed for robust and discriminative face recognition. Experimental results are reported on four public domain face databases (FRGCv2.0, AR, LFW, and PubFig) under both the open-set identification and verification scenarios. Comparisons with two leading commercial face recognition SDKs (PittPatt and FaceVACS) and two baseline algorithms (PCA+LDA and LBP) show that the proposed method, overall, is superior in recognizing both holistic and partial faces without requiring alignment. PMID:23520259

  2. Face photo-sketch synthesis and recognition.

    PubMed

    Wang, Xiaogang; Tang, Xiaoou

    2009-11-01

    In this paper, we propose a novel face photo-sketch synthesis and recognition method using a multiscale Markov Random Fields (MRF) model. Our system has three components: 1) given a face photo, synthesizing a sketch drawing; 2) given a face sketch drawing, synthesizing a photo; and 3) searching for face photos in the database based on a query sketch drawn by an artist. It has useful applications for both digital entertainment and law enforcement. We assume that faces to be studied are in a frontal pose, with normal lighting and neutral expression, and have no occlusions. To synthesize sketch/photo images, the face region is divided into overlapping patches for learning. The size of the patches decides the scale of local face structures to be learned. From a training set which contains photo-sketch pairs, the joint photo-sketch model is learned at multiple scales using a multiscale MRF model. By transforming a face photo to a sketch (or transforming a sketch to a photo), the difference between photos and sketches is significantly reduced, thus allowing effective matching between the two in face sketch recognition. After the photo-sketch transformation, in principle, most of the proposed face photo recognition approaches can be applied to face sketch recognition in a straightforward way. Extensive experiments are conducted on a face sketch database including 606 faces, which can be downloaded from our Web site (http://mmlab.ie.cuhk.edu.hk/facesketch.html). PMID:19762924

  3. Synthesis and Characterization of Metal-Organic Frameworks (MOFs) That Are Difficult to Access De Novo

    NASA Astrophysics Data System (ADS)

    Karagiaridi, Olga

    Metal-organic frameworks (MOFs) are a class of intriguing hybrid materials, comprised of metal-based nodes joined by organic linkers into a crystalline, porous, three-dimensional lattice. Their signature properties (well-defined surfaces, tailorability and ultra-high porosity) render them promising candidates for many applications, including, but not limited to, gas storage, gas separation, catalysis and sensing. One of the greatest challenges associated with MOF synthesis lies in the fact that obtaining a desired MOF structure that is tailored to perform a specific application is often not trivial. Traditional synthetic pathways termed "de novo synthesis" (typically one-pot reactions between the MOF structural building blocks under solvothermal conditions) often give rise to side products that do not possess the desired structure. To circumvent this problem, we have studied in depth two powerful MOF synthetic techniques -- solvent-assisted linker exchange (SALE) and transmetalation. These are heterogeneous reactions of parent MOF crystals with concentrated solutions of organic linkers and inorganic metal salts, respectively, that lead to the replacement of the linkers or metal nodes within the parent MOFs by the desired components, while the overall framework topology is preserved. The projects described in this dissertation have aimed to apply these techniques to transform simple (unfunctionalized) and easy to synthesize representative materials from various MOF systems to structurally and functionally interesting daughter products. Examples include synthesis of MOFs that are energetically "unfavorable", extension of MOF cages by longer linker incorporation, functionalization of MOF pores and endowment of MOFs with permanent and persistent porosity. Through these projects, we have been able to formulate a set of rules that can be applied to predict the successful outcome of SALE. Since the allure of MOFs lies in their applications, expanding the range of

  4. Emotional expression and heart rate in high-risk infants during the face-to-face/still-face.

    PubMed

    Mattson, Whitney I; Ekas, Naomi V; Lambert, Brittany; Tronick, Ed; Lester, Barry M; Messinger, Daniel S

    2013-12-01

    In infants, eye constriction-the Duchenne marker-and mouth opening appear to index the intensity of both positive and negative facial expressions. We combined eye constriction and mouth opening that co-occurred with smiles and cry-faces (respectively, the prototypic expressions of infant joy and distress) to measure emotional expression intensity. Expression intensity and heart rate were measured throughout the face-to-face/still-face (FFSF) in a sample of infants with prenatal cocaine exposure who were at risk for developmental difficulties. Smiles declined and cry-faces increased in the still-face episode, but the distribution of eye constriction and mouth opening in smiles and cry-faces did not differ across episodes of the FFSF. As time elapsed in the still face episode potential indices of intensity increased, cry-faces were more likely to be accompanied by eye constriction and mouth opening. During cry-faces there were also moderately stable individual differences in the quantity of eye constriction and mouth opening. Infant heart rate was higher during cry-faces and lower during smiles, but did not vary with intensity of expression or by episode. In sum, infants express more intense negative affect as the still-face progresses, but do not show clear differences in expressive intensity between episodes of the FFSF. PMID:24095807

  5. Faciotopy-A face-feature map with face-like topology in the human occipital face area.

    PubMed

    Henriksson, Linda; Mur, Marieke; Kriegeskorte, Nikolaus

    2015-11-01

    The occipital face area (OFA) and fusiform face area (FFA) are brain regions thought to be specialized for face perception. However, their intrinsic functional organization and status as cortical areas with well-defined boundaries remains unclear. Here we test these regions for "faciotopy", a particular hypothesis about their intrinsic functional organisation. A faciotopic area would contain a face-feature map on the cortical surface, where cortical patches represent face features and neighbouring patches represent features that are physically neighbouring in a face. The faciotopy hypothesis is motivated by the idea that face regions might develop from a retinotopic protomap and acquire their selectivity for face features through natural visual experience. Faces have a prototypical configuration of features, are usually perceived in a canonical upright orientation, and are frequently fixated in particular locations. To test the faciotopy hypothesis, we presented images of isolated face features at fixation to subjects during functional magnetic resonance imaging. The responses in V1 were best explained by low-level image properties of the stimuli. OFA, and to a lesser degree FFA, showed evidence for faciotopic organization. When a single patch of cortex was estimated for each face feature, the cortical distances between the feature patches reflected the physical distance between the features in a face. Faciotopy would be the first example, to our knowledge, of a cortical map reflecting the topology, not of a part of the organism itself (its retina in retinotopy, its body in somatotopy), but of an external object of particular perceptual significance. PMID:26235800

  6. [Investigation on circulation of Ao shi shang han jin jing lu (Ao's Golden mirror of cold pathogenic diseases) in Japan].

    PubMed

    Liang, Rong

    2003-01-01

    Being the earliest extant work on tongue diagnostics, Ao shi jin jing lu was block-printed and published in 1654 after it was spread into Japan, on the basis of which many kinds of manuscripts were made. This book not only exerted profound influence on the Kampo diagnostics in Edo age, but also laid down a foundation for the formation of pulse diagnostic school of tongue diagnostics in Kampo medicine. PMID:12921588

  7. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

    PubMed Central

    Sismani, Carolina; Kitsiou-Tzeli, Sofia; Ioannides, Marios; Christodoulou, Christodoulos; Anastasiadou, Violetta; Stylianidou, Goula; Papadopoulou, Eleftheria; Kanavakis, Emanuel; Kosmaidou-Aravidou, Zoe; Patsalis, Philippos C

    2008-01-01

    Background Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de novo and six familial, with apparently balanced translocations and mental retardation and/or congenital malformations by applying 1 Mb resolution array-CGH. In all de novo cases, only the patient was a carrier of the translocation and had abnormal phenotype. In five out of the six familial cases, the phenotype of the patient was abnormal, although the karyotype appeared identical to other phenotypically normal carriers of the family. In the sixth familial case, all carriers of the translocations had an abnormal phenotype. Results Chromosomal and FISH analyses suggested that the rearrangements were "truly balanced" in all patients. However, array-CGH, revealed cryptic imbalances in three cases (3/12, 25%), two de novo (2/12, 33.3%) and one familial (1/12, 16.6%). The nature and type of abnormalities differed among the cases. In the first case, what was identified as a de novo t(9;15)(q31;q26.1), a complex rearrangement was revealed involving a ~6.1 Mb duplication on the long arm of chromosome 9, an ~10 Mb deletion and an inversion both on the long arm of chromosome 15. These imbalances were located near the translocation breakpoints. In the second case of a de novo t(4;9)(q25;q21.2), an ~6.6 Mb deletion was identified on the short arm of chromosome 7 which is unrelated to the translocation. In the third case, of a familial, t(4;7)(q13.3;p15.3), two deletions of ~4.3 Mb and ~2.3 Mb were found, each at one of the two translocation breakpoints. In the remaining cases the translocations appeared balanced at 1 Mb resolution. Conclusion This study investigated both de novo and familial apparently balanced translocations unlike other relatively large studies which are mainly focused on de novo cases. This study provides additional evidence that cryptic

  8. Facing Tomorrow's Challenges - An Overview

    USGS Publications Warehouse

    U.S. Geological Survey

    2008-01-01

    In 2007, the U.S. Geological Survey (USGS) developed a science strategy outlining the major natural-science issues facing the Nation in the next decade. The science strategy consists of six science directions of critical importance, focusing on areas where natural science can make a substantial contribution to the well-being of the Nation and the world. This fact sheet is an overview of the science strategy and describes how USGS research can strengthen the Nation with information needed to meet the challenges of the 21st century.

  9. JAMES RIVER FACE WILDERNESS, VIRGINIA.

    USGS Publications Warehouse

    Brown, C. Ervin; Gazdik, Gertrude C.

    1984-01-01

    A mineral survey concluded that the James River Face Wilderness, Virginia, had little promise for the occurrence of metallic mineral resources. Two major rock units in the area do contain large nonmetallic mineral resources of quartzite and shale that have been mined for silica products and for brick and expanded aggregate, respectively. Because large deposits of the same material are more easily available in nearby areas, demand for the deposits within the wilderness is highly unlikely. No energy resources were identified in the course of this study.

  10. Facing Diabetes: What You Need to Know

    MedlinePlus

    ... of this page please turn Javascript on. Feature: Diabetes Facing Diabetes: What You Need to Know Past Issues / Fall ... your loved ones. Photos: AP The Faces of Diabetes Diabetes strikes millions of Americans, young and old, ...

  11. Stimulus Selectivity of Figural Aftereffects for Faces

    ERIC Educational Resources Information Center

    Yamashita, Jill A.; Hardy, Joseph L.; De Valois, Karen K.; Webster, Michael A.

    2005-01-01

    Viewing a distorted face induces large aftereffects in the appearance of an undistorted face. The authors examined the processes underlying this adaptation by comparing how selective the aftereffects are for different dimensions of the images including size, spatial frequency content, contrast, and color. Face aftereffects had weaker selectivity…

  12. Visual Search for Faces with Emotional Expressions

    ERIC Educational Resources Information Center

    Frischen, Alexandra; Eastwood, John D.; Smilek, Daniel

    2008-01-01

    The goal of this review is to critically examine contradictory findings in the study of visual search for emotionally expressive faces. Several key issues are addressed: Can emotional faces be processed preattentively and guide attention? What properties of these faces influence search efficiency? Is search moderated by the emotional state of the…

  13. Recognition of Unfamiliar Talking Faces at Birth

    ERIC Educational Resources Information Center

    Coulon, Marion; Guellai, Bahia; Streri, Arlette

    2011-01-01

    Sai (2005) investigated the role of speech in newborns' recognition of their mothers' faces. Her results revealed that, when presented with both their mother's face and that of a stranger, newborns preferred looking at their mother only if she had previously talked to them. The present study attempted to extend these findings to any other faces.…

  14. Infants Experience Perceptual Narrowing for Nonprimate Faces

    ERIC Educational Resources Information Center

    Simpson, Elizabeth A.; Varga, Krisztina; Frick, Janet E.; Fragaszy, Dorothy

    2011-01-01

    Perceptual narrowing--a phenomenon in which perception is broad from birth, but narrows as a function of experience--has previously been tested with primate faces. In the first 6 months of life, infants can discriminate among individual human and monkey faces. Though the ability to discriminate monkey faces is lost after about 9 months, infants…

  15. Integral Face Shield Concept for Firefighter's Helmet

    NASA Technical Reports Server (NTRS)

    Abeles, F.; Hansberry, E.; Himel, V.

    1982-01-01

    Stowable face shield could be made integral part of helmet worn by firefighters. Shield, made from same tough clear plastic as removable face shields presently used, would be pivoted at temples to slide up inside helmet when not needed. Stowable face shield, being stored in helmet, is always available, ready for use, and is protected when not being used.

  16. Unconscious evaluation of faces on social dimensions.

    PubMed

    Stewart, Lorna H; Ajina, Sara; Getov, Spas; Bahrami, Bahador; Todorov, Alexander; Rees, Geraint

    2012-11-01

    It has been proposed that two major axes, dominance and trustworthiness, characterize the social dimensions of face evaluation. Whether evaluation of faces on these social dimensions is restricted to conscious appraisal or happens at a preconscious level is unknown. Here we provide behavioral evidence that such preconscious evaluations exist and that they are likely to be interpretations arising from interactions between the face stimuli and observer-specific traits. Monocularly viewed faces that varied independently along two social dimensions of trust and dominance were rendered invisible by continuous flash suppression (CFS) when a flashing pattern was presented to the other eye. Participants pressed a button as soon as they saw the face emerge from suppression to indicate whether the previously hidden face was located slightly to the left or right of central fixation. Dominant and untrustworthy faces took significantly longer time to emerge (T2E) compared with neutral faces. A control experiment showed these findings could not reflect delayed motor responses to conscious faces. Finally, we showed that participants' self-reported propensity to trust was strongly predictive of untrust avoidance (i.e., difference in T2E for untrustworthy vs neutral faces) as well as dominance avoidance (i.e., difference in T2E for dominant vs neutral faces). Dominance avoidance was also correlated with submissive behavior. We suggest that such prolongation of suppression for threatening faces may result from a passive fear response, leading to slowed visual perception. PMID:22468670

  17. The shape of the face template: geometric distortions of faces and their detection in natural scenes.

    PubMed

    Pongakkasira, Kaewmart; Bindemann, Markus

    2015-04-01

    Human face detection might be driven by skin-coloured face-shaped templates. To explore this idea, this study compared the detection of faces for which the natural height-to-width ratios were preserved with distorted faces that were stretched vertically or horizontally. The impact of stretching on detection performance was not obvious when faces were equated to their unstretched counterparts in terms of their height or width dimension (Experiment 1). However, stretching impaired detection when the original and distorted faces were matched for their surface area (Experiment 2), and this was found with both vertically and horizontally stretched faces (Experiment 3). This effect was evident in accuracy, response times, and also observers' eye movements to faces. These findings demonstrate that height-to-width ratios are an important component of the cognitive template for face detection. The results also highlight important differences between face detection and face recognition. PMID:25727491

  18. Not just another face in the crowd: detecting emotional schematic faces during continuous flash suppression.

    PubMed

    Stein, Timo; Sterzer, Philipp

    2012-10-01

    To test whether threatening visual information receives prioritized processing, many studies have examined visual search for emotional schematic faces. Still, it has remained unclear whether negative or positive schematic faces are processed more efficiently. We used continuous flash suppression, a variant of binocular rivalry, to render single emotional schematic faces invisible and measured whether negative or positive faces have an advantage in accessing awareness. Across three experiments, positive faces were detected more quickly than negative faces. A fourth experiment indicated that this positive face advantage was unrelated to the valence of the face stimuli but due to the relative orientation of the mouth curvature and the face contour. These findings demonstrate the impact of configural stimulus properties on perceptual suppression during binocular rivalry and point to a perceptual confound present in emotional schematic faces that might account for some ambiguous results obtained with schematic face stimuli in previous studies. PMID:22309728

  19. From Parts to Identity: Invariance and Sensitivity of Face Representations to Different Face Halves.

    PubMed

    Anzellotti, Stefano; Caramazza, Alfonso

    2016-05-01

    Recognizing the identity of a face is computationally challenging, because it requires distinguishing between similar images depicting different people, while recognizing even very different images depicting a same person. Previous human fMRI studies investigated representations of face identity in the presence of changes in viewpoint and in expression. Despite the importance of holistic processing for face recognition, an investigation of representations of face identity across different face parts is missing. To fill this gap, we investigated representations of face identity and their invariance across different face halves. Information about face identity with invariance across changes in the face half was individuated in the right anterior temporal lobe, indicating this region as the most plausible candidate brain area for the representation of face identity. In a complementary analysis, information distinguishing between different face halves was found to decline along the posterior to anterior axis in the ventral stream. PMID:25628344

  20. Visual search efficiency is greater for human faces compared to animal faces.

    PubMed

    Simpson, Elizabeth A; Husband, Haley L; Yee, Krysten; Fullerton, Alison; Jakobsen, Krisztina V

    2014-01-01

    The Animate Monitoring Hypothesis proposes that humans and animals were the most important categories of visual stimuli for ancestral humans to monitor, as they presented important challenges and opportunities for survival and reproduction; however, it remains unknown whether animal faces are located as efficiently as human faces. We tested this hypothesis by examining whether human, primate, and mammal faces elicit similar searches, or whether human faces are privileged. In the first three experiments, participants located a target (human, primate, or mammal face) among distractors (non-face objects). We found fixations on human faces were faster and more accurate than fixations on primate faces, even when controlling for search category specificity. A final experiment revealed that, even when task-irrelevant, human faces slowed searches for non-faces, suggesting some bottom-up processing may be responsible for the human face search efficiency advantage. PMID:24962122

  1. Visual Search Efficiency is Greater for Human Faces Compared to Animal Faces

    PubMed Central

    Simpson, Elizabeth A.; Mertins, Haley L.; Yee, Krysten; Fullerton, Alison; Jakobsen, Krisztina V.

    2015-01-01

    The Animate Monitoring Hypothesis proposes that humans and animals were the most important categories of visual stimuli for ancestral humans to monitor, as they presented important challenges and opportunities for survival and reproduction; however, it remains unknown whether animal faces are located as efficiently as human faces. We tested this hypothesis by examining whether human, primate, and mammal faces elicit similarly efficient searches, or whether human faces are privileged. In the first three experiments, participants located a target (human, primate, or mammal face) among distractors (non-face objects). We found fixations on human faces were faster and more accurate than primate faces, even when controlling for search category specificity. A final experiment revealed that, even when task-irrelevant, human faces slowed searches for non-faces, suggesting some bottom-up processing may be responsible for the human face search efficiency advantage. PMID:24962122

  2. Dedifferentiated gastrointestinal stromal tumor arising de novo from the small intestine.

    PubMed

    Choi, Jacqueline J; Sinada-Bottros, Laura; Maker, Ajay V; Weisenberg, Elliot

    2014-04-01

    Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and usually display monotonous cytologic features and immunoactivity for CD117. Anaplastic GIST, with pleomorphic cells and loss of CD117, until recently have only been reported in patients with chronic imatinib mesylate treatment. Dedifferentiated GISTs arising de novo is a newly identified entity that may prove to be difficult to diagnose. We present the case of a 52-year-old female found to have a dedifferentiated GIST without prior imatinib mesylate therapy. This case is the first reported dedifferentiated GIST arising de novo from the small bowel, and at 30cm in greatest diameter, the largest reported to date. Additionally, we demonstrate for the first time the loss of DOG1 in the anaplastic component of the tumor. De novo dedifferentiated GIST is a rare and diagnostically challenging tumor that may be mischaracterized unless considered in the differential diagnosis. PMID:24484970

  3. Defining the maize transcriptome de novo using deep RNA-Seq

    SciTech Connect

    Martin, Jeffrey; Gross, Stephen; Choi, Cindy; Zhang, Tao; Lindquist, Erika; Wei, Chia-Lin; Wang, Zhong

    2011-06-02

    De novo assembly of the transcriptome is crucial for functional genomics studies in bioenergy research, since many of the organisms lack high quality reference genomes. In a previous study we successfully de novo assembled simple eukaryote transcriptomes exclusively from short Illumina RNA-Seq reads [1]. However, extensive alternative splicing, present in most of the higher eukaryotes, poses a significant challenge for current short read assembly processes. Furthermore, the size of next-generation datasets, often large for plant genomes, presents an informatics challenge. To tackle these challenges we present a combined experimental and informatics strategy for de novo assembly in higher eukaryotes. Using maize as a test case, preliminary results suggest our approach can resolve transcript variants and improve gene annotations.

  4. Defining the maize transcriptome de novo using deep RNA-Seq

    SciTech Connect

    Martin, Jeffrey; Gross, Stephen; Choi, Cindy; Zhang, Tao; Lindquist, Erika; Wei, Chia-Lin; Wang, Zhong

    2011-06-01

    De novo assembly of the transcriptome is crucial for functional genomics studies in bioenergy research, since many of the organisms lack high quality reference genomes. In a previous study we successfully de novo assembled simple eukaryote transcriptomes exclusively from short Illumina RNA-Seq reads [1]. However, extensive alternative splicing, present in most of the higher eukaryotes, poses a significant challenge for current short read assembly processes. Furthermore, the size of next-generation datasets, often large for plant genomes, presents an informatics challenge. To tackle these challenges we present a combined experimental and informatics strategy for de novo assembly in higher eukaryotes. Using maize as a test case, preliminary results suggest our approach can resolve transcript variants and improve gene annotations.

  5. De Novo-Designed Enzymes as Small-Molecule-Regulated Fluorescence Imaging Tags and Fluorescent Reporters

    PubMed Central

    2015-01-01

    Enzyme-based tags attached to a protein-of-interest (POI) that react with a small molecule, rendering the conjugate fluorescent, are very useful for studying the POI in living cells. These tags are typically based on endogenous enzymes, so protein engineering is required to ensure that the small-molecule probe does not react with the endogenous enzyme in the cell of interest. Here we demonstrate that de novo-designed enzymes can be used as tags to attach to POIs. The inherent bioorthogonality of the de novo-designed enzyme–small-molecule probe reaction circumvents the need for protein engineering, since these enzyme activities are not present in living organisms. Herein, we transform a family of de novo-designed retroaldolases into variable-molecular-weight tags exhibiting fluorescence imaging, reporter, and electrophoresis applications that are regulated by tailored, reactive small-molecule fluorophores. PMID:25209927

  6. Genome-wide patterns and properties of de novo mutations in humans.

    PubMed

    Francioli, Laurent C; Polak, Paz P; Koren, Amnon; Menelaou, Androniki; Chun, Sung; Renkens, Ivo; van Duijn, Cornelia M; Swertz, Morris; Wijmenga, Cisca; van Ommen, Gertjan; Slagboom, P Eline; Boomsma, Dorret I; Ye, Kai; Guryev, Victor; Arndt, Peter F; Kloosterman, Wigard P; de Bakker, Paul I W; Sunyaev, Shamil R

    2015-07-01

    Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show that de novo mutations in the offspring of older fathers are not only more numerous but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcription-coupled repair, whereas mutation clusters with a unique signature point to a new mutational mechanism. Mutation and recombination rates independently associate with nucleotide diversity, and regional variation in human-chimpanzee divergence is only partly explained by heterogeneity in mutation rate. Finally, we provide a genome-wide mutation rate map for medical and population genetics applications. Our results provide new insights and refine long-standing hypotheses about human mutagenesis. PMID:25985141

  7. AMPK Activation via Modulation of De Novo Purine Biosynthesis with an Inhibitor of ATIC Homodimerization.

    PubMed

    Asby, Daniel J; Cuda, Francesco; Beyaert, Maxime; Houghton, Franchesca D; Cagampang, Felino R; Tavassoli, Ali

    2015-07-23

    5-Aminoimidazole-4-carboxamide ribonucleotide (known as ZMP) is a metabolite produced in de novo purine biosynthesis and histidine biosynthesis, but only utilized in the cell by a homodimeric bifunctional enzyme (called ATIC) that catalyzes the last two steps of de novo purine biosynthesis. ZMP is known to act as an allosteric activator of the cellular energy sensor adenosine monophosphate-activated protein kinase (AMPK), when exogenously administered as the corresponding cell-permeable ribonucleoside. Here, we demonstrate that endogenous ZMP, produced by the aforementioned metabolic pathways, is also capable of activating AMPK. Using an inhibitor of ATIC homodimerization to block the ninth step of de novo purine biosynthesis, we demonstrate that the subsequent increase in endogenous ZMP activates AMPK and its downstream signaling pathways. We go on to illustrate the viability of using this approach to AMPK activation as a therapeutic strategy with an in vivo mouse model for metabolic disorders. PMID:26144885

  8. Rare De Novo Germline Copy-Number Variation in Testicular Cancer

    PubMed Central

    Stadler, Zsofia K.; Esposito, Diane; Shah, Sohela; Vijai, Joseph; Yamrom, Boris; Levy, Dan; Lee, Yoon-ha; Kendall, Jude; Leotta, Anthony; Ronemus, Michael; Hansen, Nichole; Sarrel, Kara; Rau-Murthy, Rohini; Schrader, Kasmintan; Kauff, Noah; Klein, Robert J.; Lipkin, Steven M.; Murali, Rajmohan; Robson, Mark; Sheinfeld, Joel; Feldman, Darren; Bosl, George; Norton, Larry; Wigler, Michael; Offit, Kenneth

    2012-01-01

    Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies. PMID:22863192

  9. Spatial attention modulates early face processing.

    PubMed

    Feng, Wenfeng; Martinez, Antigona; Pitts, Michael; Luo, Yue-Jia; Hillyard, Steven A

    2012-12-01

    It is widely reported that inverting a face dramatically affects its recognition. Previous studies have shown that face inversion increases the amplitude and delays the latency of the face-specific N170 component of the event-related potential (ERP) and also enhances the amplitude of the occipital P1 component (latency 100-132 ms). The present study investigates whether these effects of face inversion can be modulated by visual spatial attention. Participants viewed two streams of visual stimuli, one to the left and one to the right of fixation. One stream consisted of a sequence of alphanumeric characters at 6.67 Hz, and the other stream consisted of a series of upright and inverted images of faces and houses presented in randomized order. The participants' task was to attend selectively to one or the other of the streams (during different blocks) in order to detect infrequent target stimuli. ERPs elicited by inverted faces showed larger P1 amplitudes compared to upright faces, but only when the faces were attended. In contrast, the N170 amplitude was larger to inverted than to upright faces only when the faces were not attended. The N170 peak latency was delayed to inverted faces regardless of attention condition. These inversion effects were face specific, as similar effects were absent for houses. These results suggest that early stages of face-specific processing can be enhanced by attention, but when faces are not attended the onset of face-specific processing is delayed until the latency range of the N170. PMID:23017595

  10. Identification of system misregistrations during AO-corrected observations

    NASA Astrophysics Data System (ADS)

    Béchet, C.; Thiébaut, É.; .; Tallon, M.; Kolb, J.; Madec, P.-Y.

    2011-09-01

    The E-ELT will be equipped with a deformable mirror inside the telescope. The performance of reconstruction and control depends on the calibration of the interaction matrix- or a model of the interaction matrix- , which characterizes the system and the relationship between the commands sent to the deformable mirrors (DM) and the wavefront sensors (WFS) slopes. Such a calibration will be more complex than for the current systems at the VLT since it will have to be at least partly measured on sky and for a much larger number of degrees of freedom (more than 5000). In addition, gravity or temperature variations for instance are likely to introduce slow evolution of the matching between the M4 Deformable mirror and the WFS geometry. This can occur during observations and therefore degrade the adaptive optics (AO) correction. To relax the need of frequent painful calibrations and to prevent a loss of performance due to misregistrations, we investigate how to track the evolution of the interaction matrix errors in closed-loop without introducing any degradation in the observations. This is done thanks to identification methods and optimization theory. First, we formally describe the problem and the difficulties of such an identification in closed-loop configuration. Then, we present 2 solutions, based on the optimization of the error of estimates of the WFS slopes, at the output of the closed-loop AO. The performance of the methods and their limitations are discussed formally and thanks to numerical simulations of a high order AO system. We finally explore to which extent these methods currently studied for the Adaptive Optics Facility (AOF) at the VLT can be applied to the E-ELT.

  11. Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

    PubMed Central

    He, Xin; Sanders, Stephan J.; Liu, Li; De Rubeis, Silvia; Lim, Elaine T.; Sutcliffe, James S.; Schellenberg, Gerard D.; Gibbs, Richard A.; Daly, Mark J.; Buxbaum, Joseph D.; State, Matthew W.; Devlin, Bernie; Roeder, Kathryn

    2013-01-01

    De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de novo LoF mutations occurred at a twofold higher rate than expected by chance. However successful these studies were, they used only a small fraction of the data, excluding other types of de novo mutations and inherited rare variants. Moreover, such analyses cannot readily incorporate data from case-control studies. An important research challenge in gene discovery, therefore, is to develop statistical methods that accommodate a broader class of rare variation. We develop methods that can incorporate WES data regarding de novo mutations, inherited variants present, and variants identified within cases and controls. TADA, for Transmission And De novo Association, integrates these data by a gene-based likelihood model involving parameters for allele frequencies and gene-specific penetrances. Inference is based on a Hierarchical Bayes strategy that borrows information across all genes to infer parameters that would be difficult to estimate for individual genes. In addition to theoretical development we validated TADA using realistic simulations mimicking rare, large-effect mutations affecting risk for ASD and show it has dramatically better power than other common methods of analysis. Thus TADA's integration of various kinds of WES data can be a highly effective means of identifying novel risk genes. Indeed, application of TADA to WES data from subjects with ASD and their families, as well as from a study of ASD subjects and controls, revealed several novel and promising ASD candidate genes with strong statistical support. PMID:23966865

  12. Optimization of de novo transcriptome assembly from next-generation sequencing data.

    PubMed

    Surget-Groba, Yann; Montoya-Burgos, Juan I

    2010-10-01

    Transcriptome analysis has important applications in many biological fields. However, assembling a transcriptome without a known reference remains a challenging task requiring algorithmic improvements. We present two methods for substantially improving transcriptome de novo assembly. The first method relies on the observation that the use of a single k-mer length by current de novo assemblers is suboptimal to assemble transcriptomes where the sequence coverage of transcripts is highly heterogeneous. We present the Multiple-k method in which various k-mer lengths are used for de novo transcriptome assembly. We demonstrate its good performance by assembling de novo a published next-generation transcriptome sequence data set of Aedes aegypti, using the existing genome to check the accuracy of our method. The second method relies on the use of a reference proteome to improve the de novo assembly. We developed the Scaffolding using Translation Mapping (STM) method that uses mapping against the closest available reference proteome for scaffolding contigs that map onto the same protein. In a controlled experiment using simulated data, we show that the STM method considerably improves the assembly, with few errors. We applied these two methods to assemble the transcriptome of the non-model catfish Loricaria gr. cataphracta. Using the Multiple-k and STM methods, the assembly increases in contiguity and in gene identification, showing that our methods clearly improve quality and can be widely used. The new methods were used to assemble successfully the transcripts of the core set of genes regulating tooth development in vertebrates, while classic de novo assembly failed. PMID:20693479

  13. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

    PubMed Central

    Esmaeeli Nieh, Sahar; Madou, Maura R Z; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E; Smaoui, Nizar; Pappas, John G; Burrow, Thomas A; McDonald, Marie T; Latibashvili, Mariam; Leshinsky-Silver, Esther; Lev, Dorit; Blumkin, Luba; Vale, Ronald D; Barkovich, Anthony James; Sherr, Elliott H

    2015-01-01

    Objective To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children. Methods Clinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesin gene KIF1A. The predicted functional disruption of these mutations was assessed in silico to compare the calculated conformational flexibility and estimated efficiency of ATP binding to kinesin motor domains of wild-type (WT) versus mutant alleles. Additionally, an in vitro microtubule gliding assay was performed to assess the effects of de novo dominant, inherited recessive, and polymorphic variants on KIF1A motor function. Results All six subjects had severe developmental delay, hypotonia, and varying degrees of hyperreflexia and spastic paraparesis. Microcephaly, cortical visual impairment, optic neuropathy, peripheral neuropathy, ataxia, epilepsy, and movement disorders were also observed. All six patients had a degenerative neurologic course with progressive cerebral and cerebellar atrophy seen on sequential magnetic resonance imaging scans. Computational modeling of mutant protein structures when compared to WT kinesin showed substantial differences in conformational flexibility and ATP-binding efficiency. The de novo KIF1A mutants were nonmotile in the microtubule gliding assay. Interpretation De novo mutations in KIF1A cause a degenerative neurologic syndrome with brain atrophy. Computational and in vitro assays differentiate the severity of dominant de novo heterozygous versus inherited recessive KIF1A mutations. The profound effect de novo mutations have on axonal transport is likely related to the cause of progressive neurologic impairment in these patients. PMID:26125038

  14. Intramedullary locking femoral nails. Experience with the AO nail.

    PubMed Central

    Fogarty, A. B.; Yeates, H. A.

    1991-01-01

    The AO interlocking nail was introduced to the Ulster Hospital, Dundonald in 1988 and since then has been used in over 50 patients with femoral shaft fractures. We have reviewed 45 patients with 46 femoral shaft fractures treated between June 1988 and April 1990. These included four compound fractures and 13 comminuted fractures. The results compare favourably with other series. The union rate was 98% and there were no instances of deep infection. The alternative treatment methods available are discussed along with a review of the relevant literature. Images Fig 3 Fig 5 PMID:1785145

  15. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C03

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C03 The IDE mounting plate and the detector frames are coated with a brown stain similiar to that seen on the other experiments in this and other trays located nearby. The stain seems to be slightly darker along the lower edge of the solar sensor mounting plate. The colors and designs seen on the detectors are reflections of the surrounding area. The thin brown film on the detectors metallic surface has resulted in a duller reflection of a technician, in the upper left, and other items.

  16. Stream-Field Interactions in the Magnetic Accretor AO Piscium

    NASA Astrophysics Data System (ADS)

    Hellier, Coel; van Zyl, Liza

    2005-06-01

    UV spectra of the magnetic accretor AO Psc show absorption features for half the binary orbit. The absorption is unlike the wind-formed features often seen in similar stars. Instead, we attribute it to a fraction of the stream that overflows the impact with the accretion disk. Rapid velocity variations can be explained by changes in the trajectory of the stream depending on the orientation of the white dwarf's magnetic field. Hence, we are directly observing the interaction of an accretion stream with a rotating field. We compare this behavior to that seen in other intermediate polars and in SW Sex stars.

  17. Masked fake face detection using radiance measurements.

    PubMed

    Kim, Youngshin; Na, Jaekeun; Yoon, Seongbeak; Yi, Juneho

    2009-04-01

    This research presents a novel 2D feature space where real faces and masked fake faces can be effectively discriminated. We exploit the reflectance disparity based on albedo between real faces and fake materials. The feature vector used consists of radiance measurements of the forehead region under 850 and 685 nm illuminations. Facial skin and mask material show linearly separable distributions in the feature space proposed. By simply applying Fisher's linear discriminant, we have achieved 97.78% accuracy in fake face detection. Our method can be easily implemented in commercial face verification systems. PMID:19340250

  18. Face recognition motivated by human approach

    NASA Astrophysics Data System (ADS)

    Kamgar-Parsi, Behrooz; Lawson, Wallace Edgar; Kamgar-Parsi, Behzad

    2010-04-01

    We report the development of a face recognition system which operates in the same way as humans in that it is capable of recognizing a number of people, while rejecting everybody else as strangers. While humans do it routinely, a particularly challenging aspect of the problem of open-world face recognition has been the question of rejecting previously unseen faces as unfamiliar. Our approach can handle previously unseen faces; it is based on identifying and enclosing the region(s) in the human face space which belong to the target person(s).

  19. Using linkage maps to correct and scaffold de novo genome assemblies: methods, challenges, and computational tools

    PubMed Central

    Fierst, Janna L.

    2015-01-01

    Modern high-throughput DNA sequencing has made it possible to inexpensively produce genome sequences, but in practice many of these draft genomes are fragmented and incomplete. Genetic linkage maps based on recombination rates between physical markers have been used in biology for over 100 years and a linkage map, when paired with a de novo sequencing project, can resolve mis-assemblies and anchor chromosome-scale sequences. Here, I summarize the methodology behind integrating de novo assemblies and genetic linkage maps, outline the current challenges, review the available software tools, and discuss new mapping technologies. PMID:26150829

  20. Evaluating face trustworthiness: a model based approach

    PubMed Central

    Baron, Sean G.; Oosterhof, Nikolaas N.

    2008-01-01

    Judgments of trustworthiness from faces determine basic approach/avoidance responses and approximate the valence evaluation of faces that runs across multiple person judgments. Here, based on trustworthiness judgments and using a computer model for face representation, we built a model for representing face trustworthiness (study 1). Using this model, we generated novel faces with an increased range of trustworthiness and used these faces as stimuli in a functional Magnetic Resonance Imaging study (study 2). Although participants did not engage in explicit evaluation of the faces, the amygdala response changed as a function of face trustworthiness. An area in the right amygdala showed a negative linear response—as the untrustworthiness of faces increased so did the amygdala response. Areas in the left and right putamen, the latter area extended into the anterior insula, showed a similar negative linear response. The response in the left amygdala was quadratic—strongest for faces on both extremes of the trustworthiness dimension. The medial prefrontal cortex and precuneus also showed a quadratic response, but their response was strongest to faces in the middle range of the trustworthiness dimension. PMID:19015102

  1. Social Psychological Face Perception: Why Appearance Matters

    PubMed Central

    Zebrowitz, Leslie A.; Montepare, Joann M.

    2009-01-01

    We form first impressions from faces despite warnings not to do so. Moreover, there is considerable agreement in our impressions, which carry significant social outcomes. Appearance matters because some facial qualities are so useful in guiding adaptive behavior that even a trace of those qualities can create an impression. Specifically, the qualities revealed by facial cues that characterize low fitness, babies, emotion, and identity are overgeneralized to people whose facial appearance resembles the unfit (anomalous face overgeneralization), babies (babyface overgeneralization), a particular emotion (emotion face overgeneralization), or a particular identity (familiar face overgeneralization). We review studies that support the overgeneralization hypotheses and recommend research that incorporates additional tenets of the ecological theory from which these hypotheses are derived: the contribution of dynamic and multi-modal stimulus information to face perception; bidirectional relationships between behavior and face perception; perceptual learning mechanisms and social goals that sensitize perceivers to particular information in faces. PMID:20107613

  2. Extraversion predicts individual differences in face recognition.

    PubMed

    Li, Jingguang; Tian, Moqian; Fang, Huizhen; Xu, Miao; Li, He; Liu, Jia

    2010-07-01

    In daily life, one of the most common social tasks we perform is to recognize faces. However, the relation between face recognition ability and social activities is largely unknown. Here we ask whether individuals with better social skills are also better at recognizing faces. We found that extraverts who have better social skills correctly recognized more faces than introverts. However, this advantage was absent when extraverts were asked to recognize non-social stimuli (e.g., flowers). In particular, the underlying facet that makes extraverts better face recognizers is the gregariousness facet that measures the degree of inter-personal interaction. In addition, the link between extraversion and face recognition ability was independent of general cognitive abilities. These findings provide the first evidence that links face recognition ability to our daily activity in social communication, supporting the hypothesis that extraverts are better at decoding social information than introverts. PMID:20798810

  3. The activation of visual face memory and explicit face recognition are delayed in developmental prosopagnosia.

    PubMed

    Parketny, Joanna; Towler, John; Eimer, Martin

    2015-08-01

    Individuals with developmental prosopagnosia (DP) are strongly impaired in recognizing faces, but the causes of this deficit are not well understood. We employed event-related brain potentials (ERPs) to study the time-course of neural processes involved in the recognition of previously unfamiliar faces in DPs and in age-matched control participants with normal face recognition abilities. Faces of different individuals were presented sequentially in one of three possible views, and participants had to detect a specific Target Face ("Joe"). EEG was recorded during task performance to Target Faces, Nontarget Faces, or the participants' Own Face (which had to be ignored). The N250 component was measured as a marker of the match between a seen face and a stored representation in visual face memory. The subsequent P600f was measured as an index of attentional processes associated with the conscious awareness and recognition of a particular face. Target Faces elicited reliable N250 and P600f in the DP group, but both of these components emerged later in DPs than in control participants. This shows that the activation of visual face memory for previously unknown learned faces and the subsequent attentional processing and conscious recognition of these faces are delayed in DP. N250 and P600f components to Own Faces did not differ between the two groups, indicating that the processing of long-term familiar faces is less affected in DP. However, P600f components to Own Faces were absent in two participants with DP who failed to recognize their Own Face during the experiment. These results provide new evidence that face recognition deficits in DP may be linked to a delayed activation of visual face memory and explicit identity recognition mechanisms. PMID:26169316

  4. A randomized, double-blind, cross-over, phase IV trial of oros-methylphenidate (CONCERTA®) and generic novo-methylphenidate ER-C (NOVO-generic)

    PubMed Central

    Fallu, Angelo; Dabouz, Farida; Furtado, Melissa; Anand, Leena; Katzman, Martin A.

    2016-01-01

    Objective: Attention-deficit/hyperactivity disorder (ADHD) is a common neurobehavioral disorder with onset during childhood. Multiple aspects of a child’s development are hindered, in both home and school settings, with negative impacts on social, emotional, and cognitive functioning. If left untreated, ADHD is commonly associated with poor academic achievement and low occupational status, as well as increased risk of substance abuse and delinquency. The objective of this study was to evaluate adult ADHD subject reported outcomes when switched from a stable dose of CONCERTA® to the same dose of generic Novo-methylphenidate ER-C®. Methods: Randomized, double-blind, cross-over, phase IV trial consisted of two phases in which participants with a primary diagnosis of ADHD were randomized in a 1:1 ratio to 3 weeks of treatment with CONCERTA or generic Novo-Methylphenidate ER-C. Following 3 weeks of treatment, participants were crossed-over to receive the other treatment for an additional 3 weeks. Primary efficacy was assessed through the use of the Treatment Satisfaction Questionnaire for Medication, Version II (TSQM-II). Results: Participants with ADHD treated with CONCERTA were more satisfied in terms of efficacy and side effects compared to those receiving an equivalent dose of generic Novo-Methylphenidate ER-C. All participants chose to continue with CONCERTA treatment at the conclusion of the study. Conclusion: Although CONCERTA and generic Novo-Methylphenidate ER-C have been deemed bioequivalent, however the present findings demonstrate clinically and statistically significant differences between generic and branded CONCERTA. Further investigation of these differences is warranted. PMID:27536342

  5. Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

    PubMed

    Duval, Nathan; Luhrs, Kyleen; Wilkinson, Terry G; Baresova, Veronika; Skopova, Vaclava; Kmoch, Stanislav; Vacano, Guido N; Zikanova, Marie; Patterson, David

    2013-03-01

    Purines are molecules essential for many cell processes, including RNA and DNA synthesis, regulation of enzyme activity, protein synthesis and function, energy metabolism and transfer, essential coenzyme function, and cell signaling. Purines are produced via the de novo purine biosynthesis pathway. Mutations in purine biosynthetic genes, for example phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS, E.C. 6.3.2.6/E.C. 4.1.1.21), can lead to developmental anomalies in lower vertebrates. Alterations in PAICS expression in humans have been associated with various types of cancer. Mutations in adenylosuccinate lyase (ADSL, E.C. 4.3.2.2) or 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC, E.C. 2.1.2.3/E.C. 3.5.4.10) lead to inborn errors of metabolism with a range of clinical symptoms, including developmental delay, severe neurological symptoms, and autistic features. The pathogenetic mechanism is unknown for these conditions, and no effective treatments exist. The study of cells carrying mutations in the various de novo purine biosynthesis pathway genes provides one approach to analysis of purine disorders. Here we report the characterization of AdeD Chinese hamster ovary (CHO) cells, which carry genetic mutations encoding p.E177K and p.W363* variants of PAICS. Both mutations impact PAICS structure and completely abolish its biosynthesis. Additionally, we describe a sensitive and rapid analytical method for detection of purine de novo biosynthesis intermediates based on high performance liquid chromatography with electrochemical detection. Using this technique we detected accumulation of AIR in AdeD cells. In AdeI cells, mutant for the ADSL gene, we detected accumulation of SAICAR and SAMP and, somewhat unexpectedly, accumulation of AIR. This method has great potential for metabolite profiling of de novo purine biosynthesis pathway mutants, identification of novel genetic

  6. Researcher and Researched: The Phenomenology of Change from Face-to-Face to Online Instruction

    ERIC Educational Resources Information Center

    Crawley, Frank E.; Fewell, Martha D.; Sugar, William A.

    2009-01-01

    Online instruction, courses, and degree programs are rising in popularity in higher education and corporations. Novice and experienced instructors face increased demands from administrators and students to teach online, in a higher education environment long noted for face-to-face, residence-based instruction. Viewing the shift from face-to-face…

  7. Web-Based vs. Face-to-Face MBA Classes: A Comparative Assessment Study

    ERIC Educational Resources Information Center

    Brownstein, Barry; Brownstein, Deborah; Gerlowski, Daniel A.

    2008-01-01

    The challenges of online learning include ensuring that the learning outcomes are at least as robust as in the face-to-face sections of the same course. At the University of Baltimore, both online sections and face-to-face sections of core MBA courses are offered. Once admitted to the MBA, students are free to enroll in any combination of…

  8. Examining the Roles of the Facilitator in Online and Face-to-Face PD Contexts

    ERIC Educational Resources Information Center

    Park, Gina; Johnson, Heather; Vath, Richard; Kubitskey, Beth; Fishman, Barry

    2013-01-01

    Online teacher professional development has become an alternative to face-to-face professional development. Such a shift from face-to-face to online professional development, however, brings new challenges for professional development facilitators, whose roles are crucial in orchestrating teacher learning. This paper is motivated by the need to…

  9. Choosing between Online and Face-to-Face Courses: Community College Student Voices

    ERIC Educational Resources Information Center

    Jaggars, Shanna Smith

    2014-01-01

    In this study, community college students discussed their experiences with online and face-to-face learning as well as their reasons for selecting online (rather than face-to-face) sections of specific courses. Students reported lower levels of instructor presence in online courses and that they needed to "teach themselves." Accordingly,…

  10. A Comparison of Face-to-Face and Groupware Meeting Approaches on a Collaborative Writing Project.

    ERIC Educational Resources Information Center

    Perreault, Heidi R.; Moses, Duane R.

    1992-01-01

    Twelve groups of business students met face to face to complete a report; 10 groups used groupware (computerized decision support system). Overall report quality did not differ, although groupware users needed more time. Appearance and appropriate format were rated higher for the face-to-face group, and students found this method easier, faster,…

  11. Comparing Student Outcomes in Blended and Face-to-Face Courses

    ERIC Educational Resources Information Center

    Roscoe, Douglas D.

    2012-01-01

    This article reports on a study of student outcomes in a pair of matched courses, one taught face-to-face and one taught in a blended format, in which students completed most of the work online but met several times face-to-face. Learning objectives, course content, and pedagogical approaches were identical but the mode of instruction was…

  12. Learning of Argumentation Skills in Networked and Face-to-Face Environments.

    ERIC Educational Resources Information Center

    Marttunen, Miika; Laurinen, Leena

    2001-01-01

    In a teaching experiment, 16 face-to-face and 11 e-mail Finnish university students studied academic debating in an argumentation course. Results indicated the e-mail students learned to identify and choose relevant grounds, while face-to-face students improved in putting forward counter-argumentation. The study suggests that argumentation skills…

  13. Teacher and Student Behaviors in Face-to-Face and Online Courses: Dealing with Complex Concepts

    ERIC Educational Resources Information Center

    Cragg, C. E.; Dunning, Jean; Ellis, Jaqueline

    2008-01-01

    The objective of this research was to compare the quality and quantity of teacher and student interaction in an on-line versus face-to-face learning environment. A Master's level course on nursing theories was taught by the same professor by both methods. Transcripts of the face-to-face class and on-line postings were analyzed to identify…

  14. The Impact of Face-to-Face Orientation on Online Retention: A Pilot Study

    ERIC Educational Resources Information Center

    Ali, Radwan; Leeds, Elke M.

    2009-01-01

    Student retention in online education is a concern for students, faculty and administration. Retention rates are 20% lower in online courses than in traditional face-to-face courses. As part of an integration and engagement strategy, a face-to-face orientation was added to an online undergraduate business information systems course to examine its…

  15. The Development of Infant Social Expectations in Face-to-Face Interaction: A Longitudinal Study.

    ERIC Educational Resources Information Center

    Lamb, Michael E.; And Others

    1987-01-01

    Thirty first-born infants were filmed in face-to-face interaction with their mothers and unfamiliar adults each month between 1 and 7 months of age. Adults interacted both playfully and unresponsively. Developmental trends, differential responsiveness to mothers and strangers, and social expectations in face-to-face interaction were explored.…

  16. Can Face-to-Face Mobilization Boost Student Voter Turnout? Results of a Campus Field Experiment

    ERIC Educational Resources Information Center

    Hill, David; Lachelier, Paul

    2014-01-01

    American colleges and universities have an expanding role to play in nurturing political engagement as more youth attend college. Given low voter turnout among college students yet growing experimental evidence that face-to-face mobilization can boost turnout, the experiment reported in this article examined the impact of a face-to-face college…

  17. "No Significant Distance" between Face-to-Face and Online Instruction: Evidence from Principles of Economics

    ERIC Educational Resources Information Center

    Coates, Dennis; Humphreys, Brad, R.; Kane, John; Vachris, Michelle, A.

    2004-01-01

    This paper describes an experiment focused on measuring and explaining differences in students learning between online and face-to-face modes of instruction in college level principles of economics courses. Our results indicate that students in face-to-face sections scored better on the Test of Understanding College Economics (TUCE) than students…

  18. A Comparison of Face-to-Face and Electronic Peer-Mentoring: Interactions with Mentor Gender

    ERIC Educational Resources Information Center

    Smith-Jentsch, Kimberly A.; Scielzo, Shannon A.; Yarbrough, Charyl S.; Rosopa, Patrick J.

    2008-01-01

    The present study compared the relative impact of peer-mentoring that took place either face-to-face or through electronic chat. Proteges were 106 college freshmen randomly assigned to a senior college student mentor and to one of the two communication modes. Fifty-one mentors interacted with one of these proteges face-to-face and one solely…

  19. Face Aftereffects Indicate Dissociable, but Not Distinct, Coding of Male and Female Faces

    ERIC Educational Resources Information Center

    Jaquet, Emma; Rhodes, Gillian

    2008-01-01

    It has been claimed that exposure to distorted faces of one sex induces perceptual aftereffects for test faces that are of the same sex, but not for test faces of the other sex (A. C. Little, L. M. DeBruine, & B. C. Jones, 2005). This result suggests that male and female faces have separate neural coding. Given the high degree of visual similarity…

  20. The Challenges of Interfacing between Face-To-Face and Online Instruction.

    ERIC Educational Resources Information Center

    Dabbagh, Nada H.

    2000-01-01

    Discussion of the development and use of Web-based instruction in higher education focuses on issues of course content; technological assumptions; logistical and implementation challenges; interfacing between face-to-face and online learning environments; and the use of a Web-based course management tool to support face-to-face instruction. (LRW)

  1. Highlights from a Literature Review Prepared for the Face to Face Research Project

    ERIC Educational Resources Information Center

    National Literacy Trust, 2010

    2010-01-01

    Between March 2009 and March 2011, Talk To Your Baby has been engaged in a research project, under the title of Face to Face, to identify key messages for parents and carers in relation to communicating with babies and young children, and has examined the most effective ways to promote these messages to parents and carers. The Face to Face project…

  2. 78 FR 38027 - Novo BioPower LLC; Supplemental Notice That Initial Market-Based Rate Filing Includes Request for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-25

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Novo BioPower LLC; Supplemental Notice That Initial Market-Based Rate Filing...-referenced proceeding, of Novo BioPower LLC's application for market-based rate authority, with...

  3. Titanium alloys (AoN) and their involvement in osseointegration

    PubMed Central

    Danza, Matteo; Zollino, Ilaria; Candotto, Valentina; Cura, Francesca; Carinci, Francesco

    2012-01-01

    Background: Osseointegration is essential for a long-term successful and inflammation-free dental implant. Such a result depends on osteoblastic cells growth and differentiation at the tissue-implant interface. The aim of this study was to compare two different AoN titanium layers (GR4 and GR5) to investigate which one had a greater osteoconductive power using human osteoblasts (HOb) culture at two different time-points. Materials and Methods: The expression levels of some bone-related (ALPL, COL1A1, COL3A1, SPP1, RUNX2, and SPARC) were analyzed using real time reverse transcription-polymerase chain reaction (real time RT-PCR). Results: Real-time RT-PCR data showed that after 3 days of treatment with TiA4GR, the genes up-regulated were COL3A1, ALPL, SPP1, and RUNX2. Moreover, no difference in gene expression was noticed 4 days later. On the other hand, the genes that overexpressed after 3 days of treatment with AoN5GR were ALPL, SPP1, and RUNX2. In both cases, the expression of COL1A1 and SPARC was negatively regulated. Conclusion: Our data showed that both titanium surfaces led to osteoblasts recruitment, maturation, and differentiation, thus promoting osseointegration at the tissue-implant interface. PMID:23814585

  4. Faces distort eye movement trajectories, but the distortion is not stronger for your own face.

    PubMed

    Qian, Haoyue; Gao, Xiangping; Wang, Zhiguo

    2015-07-01

    It is currently unclear whether a person's own face has greater capacity in absorbing his/her attention than faces of others. With two visual distractor tasks, the present study assessed the extent to which a person's own face attracts his/her attention, by measuring face distractor elicited distortion of saccade trajectories. Experiment 1 showed that upright faces induced stronger distortion of saccade trajectories than inverted ones. This face inversion effect, however, was not stronger for the participant's own face than for unfamiliar other's faces. By manipulating fixation stimulus offset and using peripheral onset target, Experiment 2 further demonstrated that these observations were not contingent on saccade latency. Together, these findings suggest that a person's own face is not more salient or attention-absorbing than unfamiliar other's faces. PMID:25912608

  5. Facebook and MySpace: complement or substitute for face-to-face interaction?

    PubMed

    Kujath, Carlyne L

    2011-01-01

    Previous studies have claimed that social-networking sites are used as a substitute for face-to-face interaction, resulting in deteriorating relationship quality and decreased intimacy among its users. The present study hypothesized that this type of communication is not a substitute for face-to-face interaction; rather, that it is an extension of communication with face-to-face partners. A survey was administered to examine the use of Facebook and MySpace in this regard among 183 college students. The study confirmed that Facebook and MySpace do act as an extension of face-to-face interaction, but that some users do tend to rely on Facebook and MySpace for interpersonal communication more than face-to-face interaction. PMID:21329446

  6. The face in the crowd effect: anger superiority when using real faces and multiple identities.

    PubMed

    Pinkham, Amy E; Griffin, Mark; Baron, Robert; Sasson, Noah J; Gur, Ruben C

    2010-02-01

    The "face in the crowd effect" refers to the finding that threatening or angry faces are detected more efficiently among a crowd of distractor faces than happy or nonthreatening faces. Work establishing this effect has primarily utilized schematic stimuli and efforts to extend the effect to real faces have yielded inconsistent results. The failure to consistently translate the effect from schematic to human faces raises questions about its ecological validity. The present study assessed the face in the crowd effect using a visual search paradigm that placed veridical faces, verified to exemplify prototypical emotional expressions, within heterogeneous crowds. Results confirmed that angry faces were found more quickly and accurately than happy expressions in crowds of both neutral and emotional distractors. These results are the first to extend the face in the crowd effect beyond homogenous crowds to more ecologically valid conditions and thus provide compelling evidence for its legitimacy as a naturalistic phenomenon. PMID:20141311

  7. Neonatal face-to-face interactions promote later social behaviour in infant rhesus monkeys

    PubMed Central

    Dettmer, Amanda M.; Kaburu, Stefano S. K.; Simpson, Elizabeth A.; Paukner, Annika; Sclafani, Valentina; Byers, Kristen L.; Murphy, Ashley M.; Miller, Michelle; Marquez, Neal; Miller, Grace M.; Suomi, Stephen J.; Ferrari, Pier F.

    2016-01-01

    In primates, including humans, mothers engage in face-to-face interactions with their infants, with frequencies varying both within and across species. However, the impact of this variation in face-to-face interactions on infant social development is unclear. Here we report that infant monkeys (Macaca mulatta) who engaged in more neonatal face-to-face interactions with mothers have increased social interactions at 2 and 5 months. In a controlled experiment, we show that this effect is not due to physical contact alone: monkeys randomly assigned to receive additional neonatal face-to-face interactions (mutual gaze and intermittent lip-smacking) with human caregivers display increased social interest at 2 months, compared with monkeys who received only additional handling. These studies suggest that face-to-face interactions from birth promote young primate social interest and competency. PMID:27300086

  8. Neonatal face-to-face interactions promote later social behaviour in infant rhesus monkeys.

    PubMed

    Dettmer, Amanda M; Kaburu, Stefano S K; Simpson, Elizabeth A; Paukner, Annika; Sclafani, Valentina; Byers, Kristen L; Murphy, Ashley M; Miller, Michelle; Marquez, Neal; Miller, Grace M; Suomi, Stephen J; Ferrari, Pier F

    2016-01-01

    In primates, including humans, mothers engage in face-to-face interactions with their infants, with frequencies varying both within and across species. However, the impact of this variation in face-to-face interactions on infant social development is unclear. Here we report that infant monkeys (Macaca mulatta) who engaged in more neonatal face-to-face interactions with mothers have increased social interactions at 2 and 5 months. In a controlled experiment, we show that this effect is not due to physical contact alone: monkeys randomly assigned to receive additional neonatal face-to-face interactions (mutual gaze and intermittent lip-smacking) with human caregivers display increased social interest at 2 months, compared with monkeys who received only additional handling. These studies suggest that face-to-face interactions from birth promote young primate social interest and competency. PMID:27300086

  9. Robo-AO: autonomous and replicable laser-adaptive-optics and science system

    NASA Astrophysics Data System (ADS)

    Baranec, C.; Riddle, R.; Ramaprakash, A. N.; Law, N.; Tendulkar, S.; Kulkarni, S.; Dekany, R.; Bui, K.; Davis, J.; Burse, M.; Das, H.; Hildebrandt, S.; Punnadi, S.; Smith, R.

    2012-07-01

    We have created a new autonomous laser-guide-star adaptive-optics (AO) instrument on the 60-inch (1.5-m) telescope at Palomar Observatory called Robo-AO. The instrument enables diffraction-limited resolution observing in the visible and near-infrared with the ability to observe well over one-hundred targets per night due to its fully robotic operation. Robo-AO is being used for AO surveys of targets numbering in the thousands, rapid AO imaging of transient events and long-term AO monitoring not feasible on large diameter telescope systems. We have taken advantage of cost-effective advances in deformable mirror and laser technology while engineering Robo-AO with the intention of cloning the system for other few-meter class telescopes around the world.

  10. Electrical stimulation of human fusiform face-selective regions distorts face perception.

    PubMed

    Parvizi, Josef; Jacques, Corentin; Foster, Brett L; Witthoft, Nathan; Withoft, Nathan; Rangarajan, Vinitha; Weiner, Kevin S; Grill-Spector, Kalanit

    2012-10-24

    Face-selective neural responses in the human fusiform gyrus have been widely examined. However, their causal role in human face perception is largely unknown. Here, we used a multimodal approach of electrocorticography (ECoG), high-resolution functional magnetic resonance imaging (fMRI), and electrical brain stimulation (EBS) to directly investigate the causal role of face-selective neural responses of the fusiform gyrus (FG) in face perception in a patient implanted with subdural electrodes in the right inferior temporal lobe. High-resolution fMRI identified two distinct FG face-selective regions [mFus-faces and pFus-faces (mid and posterior fusiform, respectively)]. ECoG revealed a striking anatomical and functional correspondence with fMRI data where a pair of face-selective electrodes, positioned 1 cm apart, overlapped mFus-faces and pFus-faces, respectively. Moreover, electrical charge delivered to this pair of electrodes induced a profound face-specific perceptual distortion during viewing of real faces. Specifically, the subject reported a "metamorphosed" appearance of faces of people in the room. Several controls illustrate the specificity of the effect to the perception of faces. EBS of mFus-faces and pFus-faces neither produced a significant deficit in naming pictures of famous faces on the computer, nor did it affect the appearance of nonface objects. Further, the appearance of faces remained unaffected during both sham stimulation and stimulation of a pair of nearby electrodes that were not face-selective. Overall, our findings reveal a striking convergence of fMRI, ECoG, and EBS, which together offer a rare causal link between functional subsets of the human FG network and face perception. PMID:23100414

  11. Comparison of face-to-face and telephone consultations in primary care: qualitative analysis

    PubMed Central

    Hewitt, Heather; Gafaranga, Joseph; McKinstry, Brian

    2010-01-01

    Background There is evidence that telephone consultations in general practice are typically shorter than face-to-face consultations and that fewer problems are presented in them. Aim To compare the communicative practices of doctors and patients in face-to-face and telephone consultations, in order to understand the contrasts between the two consulting modes. Design of study Conversation analysis. Setting Eight NHS GP surgeries in Scotland. Method Transcription and conversation analysis of 32 face-to-face and 33 telephone consultations. Participants Eighteen GPs and 65 patients. Results There are no underlying contrasts between the communicative practices used in face-to-face and telephone consultations. Telephone consultations are typically used by patients to deal with a limited range of single-issue concerns, whereas a wide range of different problem types is dealt with in face-to-face consultations. Most telephone consultations for new problems lead to a face-to-face meeting rather than a diagnosis, making them shorter than equivalent face-to-face consultations. Interaction in telephone consultations is continuous and orderly, but in face-to-face consultations there are periods of silence that facilitate the introduction of additional topics, including social speech and rapport building. Doctors on the telephone are less likely to elicit additional concerns than in face-to-face consultations, and ask fewer questions when patients present self-diagnosed problems or describe problems with treatment. Conclusion Doctors in general practice do not substantially change their communicative behaviour on the telephone. Telephone consultations are shorter and include less problem disclosure than face-to-face meetings, partly because they are typically mono-topical and partly because of intrinsic differences between the two channels. PMID:20423575

  12. Dynamic Functional Brain Connectivity for Face Perception

    PubMed Central

    Yang, Yuan; Qiu, Yihong; Schouten, Alfred C.

    2015-01-01

    Face perception is mediated by a distributed brain network comprised of the core system at occipito-temporal areas and the extended system at other relevant brain areas involving bilateral hemispheres. In this study we explored how the brain connectivity changes over the time for face-sensitive processing. We investigated the dynamic functional connectivity in face perception by analyzing time-dependent EEG phase synchronization in four different frequency bands: theta (4–7 Hz), alpha (8–14 Hz), beta (15–24 Hz), and gamma (25–45 Hz) bands in the early stages of face processing from 30 to 300 ms. High-density EEG were recorded from subjects who were passively viewing faces, buildings, and chairs. The dynamic connectivity within the core system and between the extended system were investigated. Significant differences between faces and non-faces mainly appear in theta band connectivity: (1) at the time segment of 90–120 ms between parietal area and occipito-temporal area in the right hemisphere, and (2) at the time segment of 150–180 ms between bilateral occipito-temporal areas. These results indicate (1) the importance of theta-band connectivity in the face-sensitive processing, and (2) that different parts of network are involved for the initial stage of face categorization and the stage of face structural encoding. PMID:26696870

  13. Dissociation between face perception and face memory in adults, but not children, with developmental prosopagnosia.

    PubMed

    Dalrymple, Kirsten A; Garrido, Lúcia; Duchaine, Brad

    2014-10-01

    Cognitive models propose that face recognition is accomplished through a series of discrete stages, including perceptual representation of facial structure, and encoding and retrieval of facial information. This implies that impaired face recognition can result from failures of face perception, face memory, or both. Studies of acquired prosopagnosia, autism spectrum disorders, and the development of normal face recognition support the idea that face perception and face memory are distinct processes, yet this distinction has received little attention in developmental prosopagnosia (DP). To address this issue, we tested the face perception and face memory of children and adults with DP. By definition, face memory is impaired in DP, so memory deficits were present in all participants. However, we found that all children, but only half of the adults had impaired face perception. Thus, results from adults indicate that face perception and face memory are dissociable, while the results from children provide no evidence for this division. Importantly, our findings raise the possibility that DP is qualitatively different in childhood versus adulthood. We discuss theoretical explanations for this developmental pattern and conclude that longitudinal studies are necessary to better understand the developmental trajectory of face perception and face memory deficits in DP. PMID:25160676

  14. Looking at faces from different angles: Europeans fixate different features in Asian and Caucasian faces.

    PubMed

    Brielmann, Aenne A; Bülthoff, Isabelle; Armann, Regine

    2014-07-01

    Race categorization of faces is a fast and automatic process and is known to affect further face processing profoundly and at earliest stages. Whether processing of own- and other-race faces might rely on different facial cues, as indicated by diverging viewing behavior, is much under debate. We therefore aimed to investigate two open questions in our study: (1) Do observers consider information from distinct facial features informative for race categorization or do they prefer to gain global face information by fixating the geometrical center of the face? (2) Does the fixation pattern, or, if facial features are considered relevant, do these features differ between own- and other-race faces? We used eye tracking to test where European observers look when viewing Asian and Caucasian faces in a race categorization task. Importantly, in order to disentangle centrally located fixations from those towards individual facial features, we presented faces in frontal, half-profile and profile views. We found that observers showed no general bias towards looking at the geometrical center of faces, but rather directed their first fixations towards distinct facial features, regardless of face race. However, participants looked at the eyes more often in Caucasian faces than in Asian faces, and there were significantly more fixations to the nose for Asian compared to Caucasian faces. Thus, observers rely on information from distinct facial features rather than facial information gained by centrally fixating the face. To what extent specific features are looked at is determined by the face's race. PMID:24796509

  15. Face format at encoding affects the other-race effect in face memory.

    PubMed

    Zhao, Mintao; Hayward, William G; Bülthoff, Isabelle

    2014-01-01

    Memory of own-race faces is generally better than memory of other-races faces. This other-race effect (ORE) in face memory has been attributed to differences in contact, holistic processing, and motivation to individuate faces. Since most studies demonstrate the ORE with participants learning and recognizing static, single-view faces, it remains unclear whether the ORE can be generalized to different face learning conditions. Using an old/new recognition task, we tested whether face format at encoding modulates the ORE. The results showed a significant ORE when participants learned static, single-view faces (Experiment 1). In contrast, the ORE disappeared when participants learned rigidly moving faces (Experiment 2). Moreover, learning faces displayed from four discrete views produced the same results as learning rigidly moving faces (Experiment 3). Contact with other-race faces was correlated with the magnitude of the ORE. Nonetheless, the absence of the ORE in Experiments 2 and 3 cannot be readily explained by either more frequent contact with other-race faces or stronger motivation to individuate them. These results demonstrate that the ORE is sensitive to face format at encoding, supporting the hypothesis that relative involvement of holistic and featural processing at encoding mediates the ORE observed in face memory. PMID:25104831

  16. Face-to-face or face-to-screen? Undergraduates' opinions and test performance in classroom vs. online learning.

    PubMed

    Kemp, Nenagh; Grieve, Rachel

    2014-01-01

    As electronic communication becomes increasingly common, and as students juggle study, work, and family life, many universities are offering their students more flexible learning opportunities. Classes once delivered face-to-face are often replaced by online activities and discussions. However, there is little research comparing students' experience and learning in these two modalities. The aim of this study was to compare undergraduates' preference for, and academic performance on, class material and assessment presented online vs. in traditional classrooms. Psychology students (N = 67) at an Australian university completed written exercises, a class discussion, and a written test on two academic topics. The activities for one topic were conducted face-to-face, and the other online, with topics counterbalanced across two groups. The results showed that students preferred to complete activities face-to-face rather than online, but there was no significant difference in their test performance in the two modalities. In their written responses, students expressed a strong preference for class discussions to be conducted face-to-face, reporting that they felt more engaged, and received more immediate feedback, than in online discussion. A follow-up study with a separate group (N = 37) confirmed that although students appreciated the convenience of completing written activities online in their own time, they also strongly preferred to discuss course content with peers in the classroom rather than online. It is concluded that online and face-to-face activities can lead to similar levels of academic performance, but that students would rather do written activities online but engage in discussion in person. Course developers could aim to structure classes so that students can benefit from both the flexibility of online learning, and the greater engagement experienced in face-to-face discussion. PMID:25429276

  17. Face-to-face or face-to-screen? Undergraduates' opinions and test performance in classroom vs. online learning

    PubMed Central

    Kemp, Nenagh; Grieve, Rachel

    2014-01-01

    As electronic communication becomes increasingly common, and as students juggle study, work, and family life, many universities are offering their students more flexible learning opportunities. Classes once delivered face-to-face are often replaced by online activities and discussions. However, there is little research comparing students' experience and learning in these two modalities. The aim of this study was to compare undergraduates' preference for, and academic performance on, class material and assessment presented online vs. in traditional classrooms. Psychology students (N = 67) at an Australian university completed written exercises, a class discussion, and a written test on two academic topics. The activities for one topic were conducted face-to-face, and the other online, with topics counterbalanced across two groups. The results showed that students preferred to complete activities face-to-face rather than online, but there was no significant difference in their test performance in the two modalities. In their written responses, students expressed a strong preference for class discussions to be conducted face-to-face, reporting that they felt more engaged, and received more immediate feedback, than in online discussion. A follow-up study with a separate group (N = 37) confirmed that although students appreciated the convenience of completing written activities online in their own time, they also strongly preferred to discuss course content with peers in the classroom rather than online. It is concluded that online and face-to-face activities can lead to similar levels of academic performance, but that students would rather do written activities online but engage in discussion in person. Course developers could aim to structure classes so that students can benefit from both the flexibility of online learning, and the greater engagement experienced in face-to-face discussion. PMID:25429276

  18. Faciotopy—A face-feature map with face-like topology in the human occipital face area

    PubMed Central

    Henriksson, Linda; Mur, Marieke; Kriegeskorte, Nikolaus

    2015-01-01

    The occipital face area (OFA) and fusiform face area (FFA) are brain regions thought to be specialized for face perception. However, their intrinsic functional organization and status as cortical areas with well-defined boundaries remains unclear. Here we test these regions for “faciotopy”, a particular hypothesis about their intrinsic functional organisation. A faciotopic area would contain a face-feature map on the cortical surface, where cortical patches represent face features and neighbouring patches represent features that are physically neighbouring in a face. The faciotopy hypothesis is motivated by the idea that face regions might develop from a retinotopic protomap and acquire their selectivity for face features through natural visual experience. Faces have a prototypical configuration of features, are usually perceived in a canonical upright orientation, and are frequently fixated in particular locations. To test the faciotopy hypothesis, we presented images of isolated face features at fixation to subjects during functional magnetic resonance imaging. The responses in V1 were best explained by low-level image properties of the stimuli. OFA, and to a lesser degree FFA, showed evidence for faciotopic organization. When a single patch of cortex was estimated for each face feature, the cortical distances between the feature patches reflected the physical distance between the features in a face. Faciotopy would be the first example, to our knowledge, of a cortical map reflecting the topology, not of a part of the organism itself (its retina in retinotopy, its body in somatotopy), but of an external object of particular perceptual significance. PMID:26235800

  19. Spectrum of De Novo Cancers and Predictors in Liver Transplantation: Analysis of the Scientific Registry of Transplant Recipients Database

    PubMed Central

    Zhou, Jie; Hu, Zhenhua; Zhang, Qijun; Li, Zhiwei; Xiang, Jie; Yan, Sheng; Wu, Jian; Zhang, Min; Zheng, Shusen

    2016-01-01

    Background De novo malignancies occur after liver transplantation because of immunosuppression and improved long-term survival. But the spectrums and associated risk factors remain unclear. Aims To describe the overall pattern of de novo cancers in liver transplant recipients. Methods Data from Scientific Registry of Transplant Recipients from October 1987 to December 2009 were analyzed. The spectrum of de novo cancer was analyzed and logistic-regression was used to identify predictors of do novo malignancies. Results Among 89,036 liver transplant recipients, 6,834 recipients developed 9,717 post-transplant malignancies. We focused on non-skin malignancies. A total of 3,845 recipients suffered from 4,854 de novo non-skin malignancies, including 1,098 de novo hematological malignancies, 38 donor-related cases, and 3,718 de novo solid-organ malignancies. Liver transplant recipients had more than 11 times elevated cancer risk compared with the general population. The long-term overall survival was better for recipients without de novo cancer. Multivariate analysis indicated that HCV, alcoholic liver disease, autoimmune liver disease, nonalcoholic steatohepatitis, re-transplantation, combined transplantation, hepatocellular carcinoma, immunosuppression regime of cellcept, cyclosporine, sirolimus, steroids and tacrolimus were independent predictors for the development of solid malignancies after liver transplantation. Conclusions De novo cancer risk was elevated in liver transplant recipients. Multiple factors including age, gender, underlying liver disease and immunosuppression were associated with the development of de novo cancer. This is useful in guiding recipient selection as well as post-transplant surveillance and prevention. PMID:27171501

  20. Sponge systematics facing new challenges.

    PubMed

    Cárdenas, P; Pérez, T; Boury-Esnault, N

    2012-01-01

    Systematics is nowadays facing new challenges with the introduction of new concepts and new techniques. Compared to most other phyla, phylogenetic relationships among sponges are still largely unresolved. In the past 10 years, the classical taxonomy has been completely overturned and a review of the state of the art appears necessary. The field of taxonomy remains a prominent discipline of sponge research and studies related to sponge systematics were in greater number in the Eighth World Sponge Conference (Girona, Spain, September 2010) than in any previous world sponge conferences. To understand the state of this rapidly growing field, this chapter proposes to review studies, mainly from the past decade, in sponge taxonomy, nomenclature and phylogeny. In a first part, we analyse the reasons of the current success of this field. In a second part, we establish the current sponge systematics theoretical framework, with the use of (1) cladistics, (2) different codes of nomenclature (PhyloCode vs. Linnaean system) and (3) integrative taxonomy. Sponges are infamous for their lack of characters. However, by listing and discussing in a third part all characters available to taxonomists, we show how diverse characters are and that new ones are being used and tested, while old ones should be revisited. We then review the systematics of the four main classes of sponges (Hexactinellida, Calcispongiae, Homoscleromorpha and Demospongiae), each time focusing on current issues and case studies. We present a review of the taxonomic changes since the publication of the Systema Porifera (2002), and point to problems a sponge taxonomist is still faced with nowadays. To conclude, we make a series of proposals for the future of sponge systematics. In the light of recent studies, we establish a series of taxonomic changes that the sponge community may be ready to accept. We also propose a series of sponge new names and definitions following the PhyloCode. The issue of phantom species

  1. Details of Glaucomatous Damage Are Better Seen on OCT En Face Images Than on OCT Retinal Nerve Fiber Layer Thickness Maps

    PubMed Central

    Hood, Donald C.; Fortune, Brad; Mavrommatis, Maria A.; Reynaud, Juan; Ramachandran, Rithambara; Ritch, Robert; Rosen, Richard B.; Muhammad, Hassan; Dubra, Alfredo; Chui, Toco Y. P.

    2015-01-01

    Purpose High-resolution images of glaucomatous damage to the retinal nerve fiber layer (RNFL) were obtained with an adaptive optics-scanning light ophthalmoscope (AO-SLO) and used as a basis for comparisons between en face slab images and thickness maps derived from optical coherence tomography (OCT) scans. Methods Wide-field (9 × 12 mm) cube scans were obtained with swept-source OCT (DRI-OCT) from six eyes of six patients. All eyes had a deep defect near fixation as seen on a 10-2 visual field test. Optical coherence tomography en face images, based on the average reflectance intensity, were generated (ATL 3D-Suite) from 52-μm slabs just below the vitreal border of the inner limiting membrane. The RNFL thickness maps were generated from the same OCT data. Both were compared with the AO-SLO peripapillary images that were previously obtained. Results On AO-SLO images, three eyes showed small regions of preserved and/or missing RNFL bundles within the affected region. Details in these regions were seen on the OCT en face images but not on the RNFL thickness maps. In addition, in the healthier hemi-retinas of two eyes, there were darker, arcuate-shaped regions on en face images that corresponded to abnormalities seen on AO-SLO. These were not seen on RNFL thickness maps. Conclusions Details of local glaucomatous damage, missing or easily overlooked on traditional OCT RNFL thickness analysis used in clinical OCT reports, were seen on OCT en face images based on the average reflectance intensity. While more work is needed, it is likely that en face slab imaging has a role in the clinical management of glaucoma. PMID:26426403

  2. De novo-synthesized ceramide is involved in cannabinoid-induced apoptosis.

    PubMed Central

    Gómez del Pulgar, Teresa; Velasco, Guillermo; Sánchez, Cristina; Haro, Amador; Guzmán, Manuel

    2002-01-01

    Delta(9)-Tetrahydrocannabinol (THC) and other cannabinoids have been shown to induce apoptosis of glioma cells via ceramide generation. In the present study, we investigated the metabolic origin of the ceramide responsible for this cannabinoid-induced apoptosis by using two subclones of C6 glioma cells: C6.9, which is sensitive to THC-induced apoptosis; and C6.4, which is resistant to THC-induced apoptosis. Pharmacological inhibition of ceramide synthesis de novo, but not of neutral and acid sphingomyelinases, prevented THC-induced apoptosis in C6.9 cells. The activity of serine palmitoyltransferase (SPT), which catalyses the rate-limiting step of ceramide synthesis de novo, was remarkably enhanced by THC in C6.9 cells, but not in C6.4 cells. However, no major changes in SPT mRNA and protein levels were evident. Changes in SPT activity paralleled changes in ceramide levels. Pharmacological inhibition of ceramide synthesis de novo also prevented the stimulation of extracellular-signal-regulated kinase and the inhibition of protein kinase B triggered by cannabinoids. These findings show that de novo-synthesized ceramide is involved in cannabinoid-induced apoptosis of glioma cells. PMID:11903061

  3. A framework for the interpretation of de novo mutation in human disease

    PubMed Central

    Samocha, Kaitlin E.; Robinson, Elise B.; Sanders, Stephan J.; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M.; Kosmicki, Jack A.; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P.; MacArthur, Daniel G.; Gabriel, Stacey B.; dePristo, Mark; Purcell, Shaun M.; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook, Edwin H.; Gibbs, Richard A.; Schellenberg, Gerard D.; Sutcliffe, James S.; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M.; Daly, Mark J.

    2014-01-01

    Spontaneously arising (‘de novo’) mutations play an important role in medical genetics. For diseases with extensive locus heterogeneity – such as autism spectrum disorders (ASDs) – the signal from de novo mutations (DNMs) is distributed across many genes, making it difficult to distinguish disease-relevant mutations from background variation. We provide a statistical framework for the analysis of DNM excesses per gene and gene set by calibrating a model of de novo mutation. We applied this framework to DNMs collected from 1,078 ASD trios and – while affirming a significant role for loss-of-function (LoF) mutations – found no excess of de novo LoF mutations in cases with IQ above 100, suggesting that the role of DNMs in ASD may reside in fundamental neurodevelopmental processes. We also used our model to identify ~1,000 genes that are significantly lacking functional coding variation in non-ASD samples and are enriched for de novo LoF mutations identified in ASD cases. PMID:25086666

  4. Quantitative analysis of purine nucleotides indicates that purinosomes increase de novo purine biosynthesis.

    PubMed

    Zhao, Hong; Chiaro, Christopher R; Zhang, Limin; Smith, Philip B; Chan, Chung Yu; Pedley, Anthony M; Pugh, Raymond J; French, Jarrod B; Patterson, Andrew D; Benkovic, Stephen J

    2015-03-13

    Enzymes in the de novo purine biosynthesis pathway are recruited to form a dynamic metabolic complex referred to as the purinosome. Previous studies have demonstrated that purinosome assembly responds to purine levels in culture medium. Purine-depleted medium or 2-dimethylamino-4,5,6,7-tetrabromo-1H-benzimidazole (DMAT) treatment stimulates the purinosome assembly in HeLa cells. Here, several metabolomic technologies were applied to quantify the static cellular levels of purine nucleotides and measure the de novo biosynthesis rate of IMP, AMP, and GMP. Direct comparison of purinosome-rich cells (cultured in purine-depleted medium) and normal cells showed a 3-fold increase in IMP concentration in purinosome-rich cells and similar levels of AMP, GMP, and ratios of AMP/GMP and ATP/ADP for both. In addition, a higher level of IMP was also observed in HeLa cells treated with DMAT. Furthermore, increases in the de novo IMP/AMP/GMP biosynthetic flux rate under purine-depleted condition were observed. The synthetic enzymes, adenylosuccinate synthase (ADSS) and inosine monophosphate dehydrogenase (IMPDH), downstream of IMP were also shown to be part of the purinosome. Collectively, these results provide further evidence that purinosome assembly is directly related to activated de novo purine biosynthesis, consistent with the functionality of the purinosome. PMID:25605736

  5. Quantitative Analysis of Purine Nucleotides Indicates That Purinosomes Increase de Novo Purine Biosynthesis*♦

    PubMed Central

    Zhao, Hong; Chiaro, Christopher R.; Zhang, Limin; Smith, Philip B.; Chan, Chung Yu; Pedley, Anthony M.; Pugh, Raymond J.; French, Jarrod B.; Patterson, Andrew D.; Benkovic, Stephen J.

    2015-01-01

    Enzymes in the de novo purine biosynthesis pathway are recruited to form a dynamic metabolic complex referred to as the purinosome. Previous studies have demonstrated that purinosome assembly responds to purine levels in culture medium. Purine-depleted medium or 2-dimethylamino-4,5,6,7-tetrabromo-1H-benzimidazole (DMAT) treatment stimulates the purinosome assembly in HeLa cells. Here, several metabolomic technologies were applied to quantify the static cellular levels of purine nucleotides and measure the de novo biosynthesis rate of IMP, AMP, and GMP. Direct comparison of purinosome-rich cells (cultured in purine-depleted medium) and normal cells showed a 3-fold increase in IMP concentration in purinosome-rich cells and similar levels of AMP, GMP, and ratios of AMP/GMP and ATP/ADP for both. In addition, a higher level of IMP was also observed in HeLa cells treated with DMAT. Furthermore, increases in the de novo IMP/AMP/GMP biosynthetic flux rate under purine-depleted condition were observed. The synthetic enzymes, adenylosuccinate synthase (ADSS) and inosine monophosphate dehydrogenase (IMPDH), downstream of IMP were also shown to be part of the purinosome. Collectively, these results provide further evidence that purinosome assembly is directly related to activated de novo purine biosynthesis, consistent with the functionality of the purinosome. PMID:25605736

  6. De novo assembly of a bell pepper endornavirus genome sequence using RNA sequencing data.

    PubMed

    Jo, Yeonhwa; Choi, Hoseng; Cho, Won Kyong

    2015-01-01

    The genus Endornavirus is a double-stranded RNA virus that infects a wide range of hosts. In this study, we report on the de novo assembly of a bell pepper endornavirus genome sequence by RNA sequencing (RNA-Seq). Our result demonstrates the successful application of RNA-Seq to obtain a complete viral genome sequence from the transcriptome data. PMID:25792042

  7. Identification of a de novo DYNC1H1 mutation via WES according to published guidelines

    PubMed Central

    Ding, Dongxue; Chen, Zhao; Li, Kai; Long, Zhe; Ye, Wei; Tang, Zhaoli; Xia, Kun; Qiu, Rong; Tang, Beisha; Jiang, Hong

    2016-01-01

    De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents), and a standard investigation and interpretation of the identified variants was performed according to the published guidelines. We identified a novel de novo mutation (c.2327C > T, p.P776L) in DYNC1H1 gene and confirmed that it was the causal variant. The phenotype of the affected twins included delayed motor milestones, pes cavus, lower limb weakness and atrophy, and a waddling gait. Electromyographic (EMG) recordings revealed typical signs of chronic denervation. Our study demonstrates the power of WES to discover the de novo mutations associated with a neurological disease on the whole exome scale, and guidelines to conduct WES studies and interpret of identified variants are a preferable option for the exploration of the pathogenesis of rare neurological disorders. PMID:26846447

  8. De novo synthesis of phenolic dihydroxanthene near-infrared emitting fluorophores.

    PubMed

    Richard, Jean-Alexandre

    2015-08-14

    We report a flexible de novo synthesis of phenolic dihydroxanthene fluorophores. The synthesis relies on a one-pot formation of an aldehyde intermediate which can be diversified in 60-70% overall yield, providing an efficient access to this family of near-infrared emitting fluorophores. PMID:26146358

  9. De novo reconstruction of plant RNA and DNA virus genomes from viral siRNAs

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In antiviral defense, plants produce massive quantities of 21-24 nucleotide siRNAs. Here we demonstrate that the complete genomes of DNA and RNA viruses and viroids can be reconstructed by deep sequencing and de novo assembly of viral/viroid siRNAs from experimentally- and naturally-infected plants....

  10. KEY PARAMETERS FOR DE NOVO FORMATION OF POLYCHLORINATED DIBENZO-P-DIOXINS AND DIBENZOFURANS

    EPA Science Inventory

    De novo formation of polychlorinated- dibenzo-p-dioxins and dibenzofurans (PCDDs and PCDFs) was investigated in an Entrained Flow Reactor (EFR) to simulate combustion conditions. The parameters investigated were carbon content and nature in fly ash; type of gas- phase environment...

  11. Thermogravimetric desorption and de novo tests I: method development and validation.

    PubMed

    Tsytsik, Palina; Czech, Jan; Carleer, Robert; Reggers, Guy; Buekens, Alfons

    2008-08-01

    Thermogravimetric analysis (TGA) has been combined with evolved gas analysis (EGA) with the purpose of simulating the thermal behaviour of filter dust samples under inert (desorption) and de novo test oxidising conditions. Emphasis is on studying de novo formation of dioxins, surrogates and precursors arising from filter dust derived from thermal processes, such as municipal solid waste incineration and metallurgy. A new method is tested for sampling and analysing dioxin surrogates and precursors in the TGA effluent, which are collected on sampling tubes; the adsorbed compounds are eventually desorbed and quantified by TD-GC-MS. The major sources of error and losses are considered, including potential sorbent artefacts, possible breakthrough of volatiles through sampling tubes, or eventual losses of semi-volatiles due to their incomplete desorption or re-condensation inside the TG Analyser. The method is optimised and validated for di- to hexa-chlorinated benzenes in a range of 10-1000 ppb with average recovery exceeding 85%. The results are compared with data obtained in similar studies, performed by other research groups. As a result, the method provides the means for simulating de novo synthesis of dioxins in fly-ash and facilitates reliable and easy estimation of de novo activity, comparable with results of other studies, in combination with wide flexibility of testing conditions. PMID:18556042

  12. A glance at quality score: implication for de novo transcriptome reconstruction of Illumina reads.

    PubMed

    Mbandi, Stanley Kimbung; Hesse, Uljana; Rees, D Jasper G; Christoffels, Alan

    2014-01-01

    Downstream analyses of short-reads from next-generation sequencing platforms are often preceded by a pre-processing step that removes uncalled and wrongly called bases. Standard approaches rely on their associated base quality scores to retain the read or a portion of it when the score is above a predefined threshold. It is difficult to differentiate sequencing error from biological variation without a reference using quality scores. The effects of quality score based trimming have not been systematically studied in de novo transcriptome assembly. Using RNA-Seq data produced from Illumina, we teased out the effects of quality score based filtering or trimming on de novo transcriptome reconstruction. We showed that assemblies produced from reads subjected to different quality score thresholds contain truncated and missing transfrags when compared to those from untrimmed reads. Our data supports the fact that de novo assembling of untrimmed data is challenging for de Bruijn graph assemblers. However, our results indicates that comparing the assemblies from untrimmed and trimmed read subsets can suggest appropriate filtering parameters and enable selection of the optimum de novo transcriptome assembly in non-model organisms. PMID:24575122

  13. Evaluating Phylostratigraphic Evidence for Widespread De Novo Gene Birth in Genome Evolution.

    PubMed

    Moyers, Bryan A; Zhang, Jianzhi

    2016-05-01

    The source of genetic novelty is an area of wide interest and intense investigation. Although gene duplication is conventionally thought to dominate the production of new genes, this view was recently challenged by a proposal of widespread de novo gene origination in eukaryotic evolution. Specifically, distributions of various gene properties such as coding sequence length, expression level, codon usage, and probability of being subject to purifying selection among groups of genes with different estimated ages were reported to support a model in which new protein-coding proto-genes arise from noncoding DNA and gradually integrate into cellular networks. Here we show that the genomic patterns asserted to support widespread de novo gene origination are largely attributable to biases in gene age estimation by phylostratigraphy, because such patterns are also observed in phylostratigraphic analysis of simulated genes bearing identical ages. Furthermore, there is no evidence of purifying selection on very young de novo genes previously claimed to show such signals. Together, these findings are consistent with the prevailing view that de novo gene birth is a relatively minor contributor to new genes in genome evolution. They also illustrate the danger of using phylostratigraphy in the study of new gene origination without considering its inherent bias. PMID:26758516

  14. De novo erectile dysfunction after anterior urethroplasty: a systematic review and meta-analysis

    PubMed Central

    Blaschko, Sarah D.; Sanford, Melissa T.; Cinman, Nadya M.; McAninch, Jack W.; Breyer, Benjamin N.

    2013-01-01

    Objective To evaluate the likelihood of developing de novo erectile dysfunction (ED) after anterior urethroplasty and to determine if this likelihood is influenced by age, stricture length, number of previous procedures or timing of evaluation. Materials and Methods PubMed, Embase, Cochrane, and Google Scholar databases were searched for the terms `urethroplasty', `urethral obstruction', `urethral stricture', `sexual function', `erection', `erectile function', `erectile dysfunction', `impotence' and `sexual dysfunction'. Two reviewers evaluated articles for inclusion based on predetermined criteria. Results In a meta-analysis of 36 studies with a total of 2323 patients, de novo ED was rare, with an incidence of 1%. In studies that assessed postoperative erectile function at more than one time point, ED was transient and resolved at between 6 and 12 months in 86% of cases. Conclusions Men should be counselled regarding the possibility of transient or permanent de novo ED after anterior urethroplasty procedures. Increasing mean age was associated with an increased likelihood of de novo ED, but this was not statistically significant. PMID:23924424

  15. De Novo Genome Assembly of Grapevine Yellow Speckle Viroid 1 from a Grapevine Transcriptome

    PubMed Central

    Jo, Yeonhwa; Choi, Hoseong; Yoon, Ju-Yeon; Choi, Seung-Kook

    2015-01-01

    Grapevine yellow speckle viroid 1 (GYSVd1), which is a member of the genus Apscaviroid, causes yellow speckle disease in grapevines. Here, we report the complete de novo genome assembly of GYSVd1 from the grapevine transcriptome and identified 10 single nucleotide polymorphisms of GYSVd1 across the grapevine populations. PMID:25999581

  16. De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample.

    PubMed

    Kranz, Thorsten M; Harroch, Sheila; Manor, Orly; Lichtenberg, Pesach; Friedlander, Yechiel; Seandel, Marco; Harkavy-Friedman, Jill; Walsh-Messinger, Julie; Dolgalev, Igor; Heguy, Adriana; Chao, Moses V; Malaspina, Dolores

    2015-08-01

    Schizophrenia is a debilitating syndrome with high heritability. Genomic studies reveal more than a hundred genetic variants, largely nonspecific and of small effect size, and not accounting for its high heritability. De novo mutations are one mechanism whereby disease related alleles may be introduced into the population, although these have not been leveraged to explore the disease in general samples. This paper describes a framework to find high impact genes for schizophrenia. This study consists of two different datasets. First, whole exome sequencing was conducted to identify disruptive de novo mutations in 14 complete parent-offspring trios with sporadic schizophrenia from Jerusalem, which identified 5 sporadic cases with de novo gene mutations in 5 different genes (PTPRG, TGM5, SLC39A13, BTK, CDKN3). Next, targeted exome capture of these genes was conducted in 48 well-characterized, unrelated, ethnically diverse schizophrenia cases, recruited and characterized by the same research team in New York (NY sample), which demonstrated extremely rare and potentially damaging variants in three of the five genes (MAF<0.01) in 12/48 cases (25%); including PTPRG (5 cases), SCL39A13 (4 cases) and TGM5 (4 cases), a higher number than usually identified by whole exome sequencing. Cases differed in cognition and illness features based on which mutation-enriched gene they carried. Functional de novo mutations in protein-interaction domains in sporadic schizophrenia can illuminate risk genes that increase the propensity to develop schizophrenia across ethnicities. PMID:26091878

  17. 12 CFR 143.3 - De novo applications for a Federal savings association charter.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...) Demonstrate the de novo association's ability to maintain required minimum regulatory capital under 12 CFR... in concert under 12 CFR part 174, who owns or proposes to acquire, directly or indirectly, ten... TREASURY FEDERAL MUTUAL SAVINGS ASSOCIATIONS-INCORPORATION, ORGANIZATION, AND CONVERSION Organization §...

  18. Glutamine supplementation, citrulline production, and de novo arginine synthesis: Is there a relation?

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We would like to comment on the recent publications by Buijs et al. The authors hypothesized that a parenteral supplement of glutamine stimulates citrulline formation and enhances de novo arginine synthesis. To test this hypothesis, they conducted an experiment with stable isotopes in patients under...

  19. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

    PubMed Central

    Dong, Shan; Walker, Michael F.; Carriero, Nicholas J.; DiCola, Michael; Willsey, A. Jeremy; Ye, Adam Y.; Waqar, Zainulabedin; Gonzalez, Luis E.; Overton, John D.; Frahm, Stephanie; Keaney, John F.; Teran, Nicole A.; Dea, Jeanselle; Mandell, Jeffrey D.; Bal, Vanessa Hus; Sullivan, Catherine A.; DiLullo, Nicholas M.; Khalil, Rehab O.; Gockley, Jake; Yuksel, Zafer; Sertel, Sinem M.; Ercan-Sencicek, A. Gulhan; Gupta, Abha R.; Mane, Shrikant M.; Sheldon, Michael; Brooks, Andrew I.; Roeder, Kathryn; Devlin, Bernie; State, Matthew W.; Wei, Liping; Sanders, Stephan J.

    2014-01-01

    SUMMARY Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. Through the application of a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR=1.6; 95%CI=1.0-2.7; p=0.03), are more common in female probands (p=0.02), are enriched among genes encoding FMRP targets (p=6×10−9), and arise predominantly on the paternal chromosome (p<0.001). Based on mutation rates in probands versus unaffected siblings, de novo frameshift indels contribute to risk in approximately 3.0% of individuals with ASD. Finally, through observing clustering of mutations in unrelated probands, we report two novel ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release. PMID:25284784

  20. De Novo Synthesis of Furanose Sugars: Catalytic Asymmetric Synthesis of Apiose and Apiose-Containing Oligosaccharides.

    PubMed

    Kim, Mijin; Kang, Soyeong; Rhee, Young Ho

    2016-08-01

    A de novo synthetic method towards apiose, a structurally unusual furanose, is reported. The key feature is sequential metal catalysis consisting of the palladium-catalyzed asymmetric intermolecular hydroalkoxylation of an alkoxyallene and subsequent ring-closing metathesis (RCM). This strategy enabled the efficient synthesis of various apiose-containing disaccharides and a unique convergent synthesis of trisaccharides. PMID:27381592

  1. 20 CFR 655.1315 - Administrative review and de novo hearing before an administrative law judge.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... conduct the de novo hearing. The procedures in 29 CFR part 18 apply to such hearings, except that: (i) The... established by 20 CFR part 656, which will hear and decide the appeal as set forth in this section) to review... of such persons designated by the Chief Administrative Law Judge from BALCA established by 20...

  2. Fragment-Based De Novo Design of Cyclin-Dependent Kinase 2 Inhibitors.

    PubMed

    Tripathi, Sunil Kumar; Singh, Poonam; Singh, Sanjeev Kumar

    2016-01-01

    Cyclin-dependent kinases (CDKs) are core components of the cell cycle machinery that govern the transition between phases during cell cycle progression. Abnormalities in CDKs activity and regulation are common features of cancer, making CDK family members attractive targets for the development of anticancer drugs. One of the main bottlenecks hampering the development of drugs for kinase is the difficulty to attain selectivity. A huge variety of small molecules have been reported as CDK inhibitors, as potential anticancer agents, but none of these has been approved for commercial use. Computer-based molecular design supports drug discovery by suggesting novel new chemotypes and compound modifications for lead candidate optimization. One of the methods known as de novo ligand design technique has emerged as a complementary approach to high-throughput screening. Several automated de novo software programs have been written, which automatically design novel structures to perfectly fit in known binding site. The de novo design supports drug discovery assignments by generating novel pharmaceutically active agents with desired properties in a cost as well as time efficient approach. This chapter describes procedure and an overview of computer-based molecular de novo design methods on a conceptual level with successful examples of CDKs inhibitors. PMID:26231707

  3. Three families with 'de novo' m.3243A > G mutation.

    PubMed

    de Laat, Paul; Janssen, Mirian C H; Alston, Charlotte L; Taylor, Robert W; Rodenburg, Richard J T; Smeitink, Jan A M

    2016-12-01

    The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A > G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A > G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A > G mutations exist is of relevance for both diagnostic investigations and genetic counselling. Firstly, even where there is no significant (maternal) family history in patients with stroke-like episodes, diabetes and deafness or other unexplained organ dysfunction, the m.3243A > G mutation should be screened as a possible cause of the disease. Second, analysis of maternally-related family members is highly recommended to provide reliable counselling for these families, given that the m.3243A > G mutation may have arisen de novo. PMID:27331024

  4. De novo-generated small palindromes are characteristic of amplicon boundary junction of double minutes.

    PubMed

    Zhu, Jing; Yu, Yang; Meng, Xiangning; Fan, Yihui; Zhang, Yu; Zhou, Chunshui; Yue, Zhichao; Jin, Yan; Zhang, Chunyu; Yu, Lisa; Ji, Wei; Jia, Xueyuan; Guan, Rongwei; Wu, Jie; Yu, Jingcui; Bai, Jing; Guan, Xin-Yuan; Wang, Mingrong; Lee, Ki-Young; Sun, Wenjing; Fu, Songbin

    2013-08-15

    Double minutes (DMs) are hallmarks of gene amplification. However, their molecular structure and the mechanisms of formation are largely unknown. To elucidate the structure and underlying molecular mechanism of DMs, we obtained and cloned DMs using microdissection; and degenerated oligonucleotide primed polymerase chain reaction (DOP-PCR) from the ovarian cancer cell line UACC-1598. Two large amplicons, the 284 kb AmpMYCN, originating from locus 2p24.3 and the 391 kb AmpEIF5A2, from locus 3q26.2, were found co-amplified on the same DMs. The two amplicons are joined through a complex 7 kb junction DNA sequence. Analysis of the junction has revealed three de novo created small palindromes surrounding the six breakpoints. Consistent with these observations, we further found that 70% of the 57 reported DM junction sequences have de novo creation of small palindromic sequences surrounding the breakpoints. Together, our findings indicate that de novo-generated small palindromic sequences are characteristic of amplicon boundary junctions on DMs. It is possible that the de novo-generated small palindromic sequences, which may be generated through non-homologous end joining in concert with a novel DNA repair machinery, play a common role in amplicon rejoining and gene amplification. PMID:23382041

  5. De novo autoimmune hepatitis in liver transplant: State-of-the-art review.

    PubMed

    Vukotic, Ranka; Vitale, Giovanni; D'Errico-Grigioni, Antonia; Muratori, Luigi; Andreone, Pietro

    2016-03-14

    In the two past decades, a number of communications, case-control studies, and retrospective reports have appeared in the literature with concerns about the development of a complex set of clinical, laboratory and histological characteristics of a liver graft dysfunction that is compatible with autoimmune hepatitis. The de novo prefix was added to distinguish this entity from a pre-transplant primary autoimmune hepatitis, but the globally accepted criteria for the diagnosis of autoimmune hepatitis have been adopted in the diagnostic algorithm. Indeed, de novo autoimmune hepatitis is characterized by the typical liver necro-inflammation that is rich in plasma cells, the presence of interface hepatitis and the consequent laboratory findings of elevations in liver enzymes, increases in serum gamma globulin and the appearance of non-organ specific auto-antibodies. Still, the overall features of de novo autoimmune hepatitis appear not to be attributable to a univocal patho-physiological pathway because they can develop in the patients who have undergone liver transplantation due to different etiologies. Specifically, in subjects with hepatitis C virus recurrence, an interferon-containing antiviral treatment has been indicated as a potential inception of immune system derangement. Herein, we attempt to review the currently available knowledge about de novo liver autoimmunity and its clinical management. PMID:26973387

  6. De novo transcriptome assembly of the plant-parasitic nematode Rotylenchulus reniformis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Rotylenchulus reniformis, commonly known as the reniform nematode, is a pathogen of cotton, soybean, and sweet potatoes in the Southeastern United States. An estimate of cotton production loss due to R. reniformis parasitism in the United States in 2011 was 279,000 bales. Here, we present a de novo...

  7. De novo transcript sequence reconstruction from RNA-Seq: reference generation and analysis with Trinity

    Technology Transfer Automated Retrieval System (TEKTRAN)

    De novo assembly of RNA-seq data enables researchers to study transcriptomes without the need for a genome sequence; this approach can be usefully applied, for instance, in research on 'non-model organisms' of ecological and evolutionary importance, cancer samples or the microbiome. In this protocol...

  8. De Novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization

    SciTech Connect

    Wiley, J.E.; Stout, C.; Palmer, S.M.

    1995-07-17

    Constitutional nonreciprocal translocations are extremely rare, and even their existence is controversial. We report on a newborn infant with a de novo nonreciprocal translocation between chromosomes 1 and 8 resulting in 1q42.3 deletion syndrome. Fluorescent in situ hybridization with whole chromosome paints confirmed the conventional cytogenetic diagnosis. 3 refs., 2 figs., 1 tab.

  9. Searching and Studying Binary Asteroids with AO Systems

    NASA Astrophysics Data System (ADS)

    Marchis, F.; Descamps, P.; Berthier, J.; Hestroffer, D.; de Pater, I.; Conrad, A.; Le Mignant, D.; Chaffee, F.; Gavel, D.

    2003-05-01

    Our group has conducted adaptive optics observations of asteroids since 2001. Our main goal is the search and study of binary asteroids using several AO systems (Lick, Keck, VLT) and related technique such as Appulse (Berthier and Marchis, 2002) and Laser Guide Star observations (Marchis et al., AGU-EGS, 2003) to broaden the sample of asteroids observed from the main-belt out to the Kuiper Belt. We focussed our program last year on Trojan Asteroids. Six of them were observed using Appulses with Keck AO ( ˜0.05-0.10", mv=15.4-18.5), 6 with the LGS at Lick ( ˜0.25-0.35", mv<16) and 12 with the VLT/NACO system ( ˜0.10-0.14"; mv<16.7). None of these observations reveals the presence of a companion. Based on this sample, and including 617 Patroclus binary asteroid discovered by Merline et al. (IAU, 7741, 2001), we deduce that the proportion of binary Trojan asteroids larger than 40 km is less than 4%. We will promote and discuss a technique of the analysis of negative discovery in large samples. In January 2003, we conducted an observing campaign spanning 5 days of 121 Hermione with NACO, the new AO system offered at VLT. This C-type asteroid was discovered by Merline et al. (IAU, 7980, 2002). The companion, 6.1 mag fainter than the primary, is easily detected despite the faintness of the asteroid (mv ˜13). We use the method described in Marchis et al. (Icarus, 2003) to determine the orbit of the companion. Its orbital elements are a=794.7+/-2.1 km, and P=1.643+/-0.005 days. We derived a mass =1.47E19 kg, and a density of 3.1+/-0.8 g cm-3 (using IRAS diameter of 209+/-4.7 km). Considering typical densities of meteorite analogues (CI or CM carboneceous chondrite) would led to an extremely low macro-porosity of p<3%. This suggests that the volume of Hermione is ˜30% larger, which is also supported by our resolved images of this body. This work supported by the National Science Foundation Science and Technology Center for Adaptive Optics, based partly on observations

  10. Nao/ao Variability In The Coupled Bergen Climate Model

    NASA Astrophysics Data System (ADS)

    Sorteberg, A.; Furevik, T.; Bentsen, M.; Drange, H.; Kvamsto, N. G.; Thorstensen-Kindem, I.

    A new fully coupled atmosphere-ocean-sea ice model, known as the Bergen Climate Model (BCM), has been developed. The coupled model can be run with stretched co- ordinates both in the atmosphere and ocean and consists of the atmospheric model ARPEGE/IFS, and a global version of the isopycnal ocean model MICOM, including a sea ice model. The atmospheric model ARPEGE/IFS (c22) is a spectral model devel- oped jointly by Meteo-France and the European Centre for Medium-Range Weather Forecasts (ECMWF). The ocean circulation model is the Miami Isopycnic Coordinate Ocean Model (MI- COM). Several modifications have been done to the MICOM model including the incorporation of a thermodynamic and dynamic sea ice model, the use of tempera- ture as a prognostic variable instead of salinity, and the use of a metric scale factor in both lateral, so the model can easily be configured on a general orthogonal grid. Also,the thickness diffusion has been modified to better handle diffusion near bottom topography and the base of the mixed layer. Coupling has been done with the library OASIS where 14 different fields are ex- changed using Montecarlo mapping and subgrid interpolation. Continental runoff into the correct rivers and discharge into the correct ocean grid cells are performed using the Total Runoff Integrating Pathways (TRIP) data set. Results will be present from a 300 years flux adjusted control integration of BCM with todays climate, using a unstretched T63 truncation in the atmosphere and a 0.8 by 2.4 degree resolution (near the equator gradually transforming to approximate square grid cells towards the poles) in the ocean. The model output has been analysed for large scale variability in both the ocean and atmosphere, with emphasise on the North Atlantic and Arctic climate. Statistical properties of the NAO/AO signal, and its im- pacts on the climate components, are identified and compared with observations. The NAO/AO mode of variability show up in the model with

  11. The CRYSTAL-FACE Mission

    NASA Technical Reports Server (NTRS)

    Newman, P.

    2005-01-01

    The Cirrus Regional Study of Tropical Anvils and Cirrus Layers - Florida Area Cirrus Experiment (CRYSTAL-FACE) was a measurement campaign designed to investigate tropical cirrus cloud physical properties and formation processes. Understanding the production of upper tropospheric cirrus clouds is essential for the successful modeling of the Earth's climate. The mission was staged in July 2002 with flights of 6 aircraft from Key West, Florida. Several aircraft were used for in situ and remote sensing of aerosols, ice crystals, meteorological fields, radiative fluxes, and gas concentrations. The NASA ER-2 and WB-57, the Proteus aircraft, owned by Northrop Grumman and operated by Scaled Composites, CIRPAS provided the DeHavilland UV-l8A, "Twin Otter" aircraft, the University of North Dakota provided a Cessna Citation II aircraft , and NSF supported the ELDORA radar onboard the Naval Research Laboratory P-3 aircraft. In this presentation, I will describe some of the flights, the conditions, and some of the results from the mission.

  12. Facing rim cavities fluctuation modes

    NASA Astrophysics Data System (ADS)

    Casalino, Damiano; Ribeiro, André F. P.; Fares, Ehab

    2014-06-01

    Cavity modes taking place in the rims of two opposite wheels are investigated through Lattice-Boltzmann CFD simulations. Based on previous observations carried out by the authors during the BANC-II/LAGOON landing gear aeroacoustic study, a resonance mode can take place in the volume between the wheels of a two-wheel landing gear, involving a coupling between shear-layer vortical fluctuations and acoustic modes resulting from the combination of round cavity modes and wheel-to-wheel transversal acoustic modes. As a result, side force fluctuations and tonal noise side radiation take place. A parametric study of the cavity mode properties is carried out in the present work by varying the distance between the wheels. Moreover, the effects due to the presence of the axle are investigated by removing the axle from the two-wheel assembly. The azimuthal properties of the modes are scrutinized by filtering the unsteady flow in narrow bands around the tonal frequencies and investigating the azimuthal structure of the filtered fluctuation modes. Estimation of the tone frequencies with an ad hoc proposed analytical formula confirms the observed modal properties of the filtered unsteady flow solutions. The present study constitutes a primary step in the description of facing rim cavity modes as a possible source of landing gear tonal noise.

  13. Functional outcomes of face transplantation.

    PubMed

    Fischer, S; Kueckelhaus, M; Pauzenberger, R; Bueno, E M; Pomahac, B

    2015-01-01

    In this study we provide a compilation of functional impairments before and improvements after face transplantation (FT) of five FT recipients of our institution and all FTs reported in current literature. Functional outcome included the ability to smell, breath, eat, speak, grimace and facial sensation. Before FT, all our patients revealed compromised ability to breath, eat, speak, grimace and experience facial sensation. The ability to smell was compromised in two of our five patients. Two patients were dependent on tracheostomy and one on gastrostomy tubes. After FT, all abilities were significantly improved and all patients were independent from artificial air airways and feeding tubes. Including data given in current literature about the other 24 FT recipients in the world, the abilities to smell, eat and feel were enhanced in 100% of cases, while the abilities of breathing, speaking and facial expressions were ameliorated in 93%, 71% and 76% of cases, respectively. All patients that required gastrostomy and 91% of patients depending on tracheostomy were decannulated after FT. Unfortunately, outcomes remain unreported in all other cases and therefore we are unable to comment on improvements. PMID:25359281

  14. Real-time, face recognition technology

    SciTech Connect

    Brady, S.

    1995-11-01

    The Institute for Scientific Computing Research (ISCR) at Lawrence Livermore National Laboratory recently developed the real-time, face recognition technology KEN. KEN uses novel imaging devices such as silicon retinas developed at Caltech or off-the-shelf CCD cameras to acquire images of a face and to compare them to a database of known faces in a robust fashion. The KEN-Online project makes that recognition technology accessible through the World Wide Web (WWW), an internet service that has recently seen explosive growth. A WWW client can submit face images, add them to the database of known faces and submit other pictures that the system tries to recognize. KEN-Online serves to evaluate the recognition technology and grow a large face database. KEN-Online includes the use of public domain tools such as mSQL for its name-database and perl scripts to assist the uploading of images.

  15. [The influence of face on person perception].

    PubMed

    Kawanishi, C

    1993-10-01

    The purpose is to examine the influence of three factors on person perception, (a) the degree of facial attractiveness, (b) the order of presentation of the faces and the verbal information of the same stimulus person and (c) the sex of the perceivers. Seventy-one male undergraduates and 89 female undergraduates were asked to rate the personalities of the two positive and two negative stimulus persons of the opposite sex, who were selected by each subject in preliminary experiment, and asked to choose what kind of relation they would have with them. Positive or negative face was presented either before or after verbal information. The main results were as follows. (a) Generally, positive faces exerted greater influence than negative faces. (b) Faces presented after verbal information were more influential than those presented before it (recency effect). (c) The influence of face on male subjects was greater than that on female subjects. PMID:8301890

  16. Fast detection of de novo copy number variants from SNP arrays for case-parent trios

    PubMed Central

    2012-01-01

    Background In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differ from the parental copy numbers as de novo and of interest for their potential functional role in disease. Among the leading array-based methods for discovery of de novo CNVs in case-parent trios is the joint hidden Markov model (HMM) implemented in the PennCNV software. However, the computational demands of the joint HMM are substantial and the extent to which false positive identifications occur in case-parent trios has not been well described. We evaluate these issues in a study of oral cleft case-parent trios. Results Our analysis of the oral cleft trios reveals that genomic waves represent a substantial source of false positive identifications in the joint HMM, despite a wave-correction implementation in PennCNV. In addition, the noise of low-level summaries of relative copy number (log R ratios) is strongly associated with batch and correlated with the frequency of de novo CNV calls. Exploiting the trio design, we propose a univariate statistic for relative copy number referred to as the minimum distance that can reduce technical variation from probe effects and genomic waves. We use circular binary segmentation to segment the minimum distance and maximum a posteriori estimation to infer de novo CNVs from the segmented genome. Compared to PennCNV on simulated data, MinimumDistance identifies fewer false positives on average and is comparable to PennCNV with respect to false negatives. Genomic waves contribute to discordance of PennCNV and MinimumDistance for high coverage de novo calls, while highly concordant calls on chromosome 22 were validated by quantitative PCR. Computationally, MinimumDistance provides a nearly 8-fold increase in speed relative to the joint HMM in a study of oral cleft trios. Conclusions Our results indicate that batch effects and genomic waves are important considerations for case-parent studies of de novo CNV, and that the

  17. De Novo Metabolic Engineering and the Promise of Synthetic DNA

    NASA Astrophysics Data System (ADS)

    Klein-Marcuschamer, Daniel; Yadav, Vikramaditya G.; Ghaderi, Adel; Stephanopoulos, Gregory N.

    The uncertain price and tight supply of crude oil and the ever-increasing demand for clean energy have prompted heightened attention to the development of sustainable fuel technologies that ensure continued economic development while maintaining stewardship of the environment. In the face of these enormous challenges, biomass has emerged as a viable alternative to petroleum for the production of energy, chemicals, and materials owing to its abundance, inexpensiveness, and carbon-neutrality. Moreover, the immense ease and efficiency of biological systems at converting biomass-derived feedstocks into fuels, chemicals, and materials has generated renewed interest in biotechnology as a replacement for traditional chemical processes. Aided by the ever-expanding repertoire of microbial genetics and plant biotechnology, improved understanding of gene regulation and cellular metabolism, and incessantly accumulating gene and protein data, scientists are now contemplating engineering microbial cell factories to produce fuels, chemical feedstocks, polymers and pharmaceuticals in an economically and environmentally sustainable way. This goal resonates with that of metabolic engineering - the improvement of cellular properties through the intelligent design, rational modification, or directed evolution of biochemical pathways, and arguably, metabolic engineering seems best positioned to achieve the concomittant goals of environmental stewardship and economic prolificity.

  18. Faces in Motion: Selectivity of Macaque and Human Face Processing Areas for Dynamic Stimuli

    PubMed Central

    Polosecki, Pablo; Moeller, Sebastian; Schweers, Nicole; Romanski, Lizabeth M.; Tsao, Doris Y.

    2013-01-01

    Face recognition mechanisms need to extract information from static and dynamic faces. It has been hypothesized that the analysis of dynamic face attributes is performed by different face areas than the analysis of static facial attributes. To date, there is no evidence for such a division of labor in macaque monkeys. We used fMRI to determine specializations of macaque face areas for motion. Face areas in the fundus of the superior temporal sulcus responded to general object motion; face areas outside of the superior temporal sulcus fundus responded more to facial motion than general object motion. Thus, the macaque face-processing system exhibits regional specialization for facial motion. Human face areas, processing the same stimuli, exhibited specializations for facial motion as well. Yet the spatial patterns of facial motion selectivity differed across species, suggesting that facial dynamics are analyzed differently in humans and macaques. PMID:23864665

  19. Face identity matching is influenced by emotions conveyed by face and body.

    PubMed

    Van den Stock, Jan; de Gelder, Beatrice

    2014-01-01

    Faces provide information about multiple characteristics like personal identity and emotion. Classical models of face perception postulate separate sub-systems for identity and expression recognition but recent studies have documented emotional contextual influences on recognition of faces. The present study reports three experiments where participants were presented realistic face-body compounds in a 2 category (face and body) × 2 emotion (neutral and fearful) factorial design. The task always consisted of two-alternative forced choice facial identity matching. The results show that during simultaneous face identity matching, the task irrelevant bodily expressions influence processing of facial identity, under conditions of unlimited viewing (Experiment 1) as well as during brief (750 ms) presentation (Experiment 2). In addition, delayed (5000 ms) face identity matching of rapidly (150 ms) presented face-body compounds, was also influenced by the body expression (Experiment 3). The results indicate that face identity perception mechanisms interact with processing of bodily and facial expressions. PMID:24574994

  20. Repetition probability effects for inverted faces.

    PubMed

    Grotheer, Mareike; Hermann, Petra; Vidnyánszky, Zoltán; Kovács, Gyula

    2014-11-15

    It has been shown, that the repetition related reduction of the blood-oxygen level dependent (BOLD) signal is modulated by the probability of repetitions (P(rep)) for faces (Summerfield et al., 2008), providing support for the predictive coding (PC) model of visual perception (Rao and Ballard, 1999). However, the stage of face processing where repetition suppression (RS) is modulated by P(rep) is still unclear. Face inversion is known to interrupt higher level configural/holistic face processing steps and if modulation of RS by P(rep) takes place at these stages of face processing, P(rep) effects are expected to be reduced for inverted when compared to upright faces. Therefore, here we aimed at investigating whether P(rep) effects on RS observed for face stimuli originate at the higher-level configural/holistic stages of face processing by comparing these effects for upright and inverted faces. Similarly to previous studies, we manipulated P(rep) for pairs of stimuli in individual blocks of fMRI recordings. This manipulation significantly influenced repetition suppression in the posterior FFA, the OFA and the LO, independently of stimulus orientation. Our results thus reveal that RS in the ventral visual stream is modulated by P(rep) even in the case of face inversion and hence strongly compromised configural/holistic face processing. An additional whole-brain analysis could not identify any areas where the modulatory effect of probability was orientation specific either. These findings imply that P(rep) effects on RS might originate from the earlier stages of face processing. PMID:25123974

  1. Contextual Modulation of Biases in Face Recognition

    PubMed Central

    Felisberti, Fatima Maria; Pavey, Louisa

    2010-01-01

    Background The ability to recognize the faces of potential cooperators and cheaters is fundamental to social exchanges, given that cooperation for mutual benefit is expected. Studies addressing biases in face recognition have so far proved inconclusive, with reports of biases towards faces of cheaters, biases towards faces of cooperators, or no biases at all. This study attempts to uncover possible causes underlying such discrepancies. Methodology and Findings Four experiments were designed to investigate biases in face recognition during social exchanges when behavioral descriptors (prosocial, antisocial or neutral) embedded in different scenarios were tagged to faces during memorization. Face recognition, measured as accuracy and response latency, was tested with modified yes-no, forced-choice and recall tasks (N = 174). An enhanced recognition of faces tagged with prosocial descriptors was observed when the encoding scenario involved financial transactions and the rules of the social contract were not explicit (experiments 1 and 2). Such bias was eliminated or attenuated by making participants explicitly aware of “cooperative”, “cheating” and “neutral/indifferent” behaviors via a pre-test questionnaire and then adding such tags to behavioral descriptors (experiment 3). Further, in a social judgment scenario with descriptors of salient moral behaviors, recognition of antisocial and prosocial faces was similar, but significantly better than neutral faces (experiment 4). Conclusion The results highlight the relevance of descriptors and scenarios of social exchange in face recognition, when the frequency of prosocial and antisocial individuals in a group is similar. Recognition biases towards prosocial faces emerged when descriptors did not state the rules of a social contract or the moral status of a behavior, and they point to the existence of broad and flexible cognitive abilities finely tuned to minor changes in social context. PMID:20886086

  2. Machine-mounted scrubber helps ventilate face

    SciTech Connect

    Volkwein, J.C.

    1985-02-01

    The authors describe work carried out under contract for US Bureau of Mines on a machine-mounted scrubber system for ventilating the face during an extended advance. Underground tests showed that a suitable scrubber system can adequately ventilate the face at brattice setbacks up to 15m. Face methane levels were effectively controlled at large setbacks, but respirable dust levels increased by as much as 33% at the operator's cab at setbacks greater than 7.5m.

  3. Face engagement during infancy predicts later face recognition ability in younger siblings of children with autism.

    PubMed

    de Klerk, Carina C J M; Gliga, Teodora; Charman, Tony; Johnson, Mark H

    2014-07-01

    Face recognition difficulties are frequently documented in children with autism spectrum disorders (ASD). It has been hypothesized that these difficulties result from a reduced interest in faces early in life, leading to decreased cortical specialization and atypical development of the neural circuitry for face processing. However, a recent study by our lab demonstrated that infants at increased familial risk for ASD, irrespective of their diagnostic status at 3 years, exhibit a clear orienting response to faces. The present study was conducted as a follow-up on the same cohort to investigate how measures of early engagement with faces relate to face-processing abilities later in life. We also investigated whether face recognition difficulties are specifically related to an ASD diagnosis, or whether they are present at a higher rate in all those at familial risk. At 3 years we found a reduced ability to recognize unfamiliar faces in the high-risk group that was not specific to those children who received an ASD diagnosis, consistent with face recognition difficulties being an endophenotype of the disorder. Furthermore, we found that longer looking at faces at 7 months was associated with poorer performance on the face recognition task at 3 years in the high-risk group. These findings suggest that longer looking at faces in infants at risk for ASD might reflect early face-processing difficulties and predicts difficulties with recognizing faces later in life. PMID:24314028

  4. Neural Correlate of the Thatcher Face Illusion in a Monkey Face-Selective Patch.

    PubMed

    Taubert, Jessica; Van Belle, Goedele; Vanduffel, Wim; Rossion, Bruno; Vogels, Rufin

    2015-07-01

    Compelling evidence that our sensitivity to facial structure is conserved across the primate order comes from studies of the "Thatcher face illusion": humans and monkeys notice changes in the orientation of facial features (e.g., the eyes) only when faces are upright, not when faces are upside down. Although it is presumed that face perception in primates depends on face-selective neurons in the inferior temporal (IT) cortex, it is not known whether these neurons respond differentially to upright faces with inverted features. Using microelectrodes guided by functional MRI mapping, we recorded cell responses in three regions of monkey IT cortex. We report an interaction in the middle lateral face patch (ML) between the global orientation of a face and the local orientation of its eyes, a response profile consistent with the perception of the Thatcher illusion. This increased sensitivity to eye orientation in upright faces resisted changes in screen location and was not found among face-selective neurons in other areas of IT cortex, including neurons in another face-selective region, the anterior lateral face patch. We conclude that the Thatcher face illusion is correlated with a pattern of activity in the ML that encodes faces according to a flexible holistic template. PMID:26156988

  5. LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray C09

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray C09 The flight photograph was taken during the LDEF retrieval and provides an on-orbit view of the C09 integrated tray. When comparing this photograph with the prelaunch photograph, very little difference can be seen. A brown stain is visible around some of the fasteners and on mounting plates. The stain has been attributed to outgassing and contamination from the LDEF and experiment related materials being flown. When compared to the prelaunch photograph, the C09 integrated tray seems to be in excellent condition. The Interplanetary Dust Experiment appears to have a thin brown stain around some of the fasteners and also a small rectangular stain, in the center, along the bottom edge of the detector mounting plate. The IDE seems to be in excellent condition with all hardware intact. The colors seen in the detectors is a reflection of the Orbiter's white cargo bay liner.

  6. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C09

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C09 The postflight photograph was taken prior to the experiment tray being removed from the LDEF. The tray corner clamp blocks are un-anodized aluminum and that alone accounts for the major difference in color between the corner clamp blocks and the center clamp blocks. The IDE mounting plate and the detector frames and detectors seem to be in excellent condition. Close inspection of the photograph reveals several locations where impacts on detector surfaces are visible. A faint gold or tan stain can be seen around several of the fasteners and in a rectangular configuration, near the center, along the bottom edge of the detector mounting plate. Stains can also be seen near the top right edge of the solar sensor, on the mounting plate, and around the extreme edges of the solar sensor baseplate. The colors and designs seen on the detectors are reflections of the surrounding area.

  7. The 1987 outburst of the BL Lacertid AO 0235 + 164

    NASA Astrophysics Data System (ADS)

    Webb, J. R.; Smith, A. G.

    1989-08-01

    The violently variable BL Lacertid AO 0235 + 164 displayed a 3.24 magnitude outburst in early 1987. This outburst was observed intensively from Rosemary Hill Observatory in three colors. Long term monitoring observations made at Rosemary Hill are examined in an effort to find any recurring timescales associated with this outburst and previous large amplitude outbursts. The energetics of the 1987 outburst are analyzed in terms of the Shields and Wheeler model of a magnetized accretion disk. The timescales identified in the power spectrum (2.8 and 1.6 yr) are input into the model as the storage timescales. Since the emitted energy calculated from the optical burst cannot be stored in a magnetized disk at an allowable radius, it is concluded that either the storage timescales are longer than those identified in the power spectrum, or relativistic beaming effects must be considered, with a Doppler factor of 1.3 to 1.6.

  8. NFIRAOS: first facility AO system for the Thirty Meter Telescope

    NASA Astrophysics Data System (ADS)

    Herriot, Glen; Andersen, David; Atwood, Jenny; Boyer, Corinne; Byrnes, Peter; Caputa, Kris; Ellerbroek, Brent; Gilles, Luc; Hill, Alexis; Ljusic, Zoran; Pazder, John; Rosensteiner, Matthias; Smith, Malcolm; Spano, Paolo; Szeto, Kei; Véran, Jean-Pierre; Wevers, Ivan; Wang, Lianqi; Wooff, Robert

    2014-07-01

    NFIRAOS, the Thirty Meter Telescope's first adaptive optics system is an order 60x60 Multi-Conjugate AO system with two deformable mirrors. Although most observing will use 6 laser guide stars, it also has an NGS-only mode. Uniquely, NFIRAOS is cooled to -30 °C to reduce thermal background. NFIRAOS delivers a 2-arcminute beam to three client instruments, and relies on up to three IR WFSs in each instrument. We present recent work including: robust automated acquisition on these IR WFSs; trade-off studies for a common-size of deformable mirror; real-time computing architectures; simplified designs for high-order NGS-mode wavefront sensing; modest upgrade concepts for high-contrast imaging.

  9. Face hallucination using orthogonal canonical correlation analysis

    NASA Astrophysics Data System (ADS)

    Zhou, Huiling; Lam, Kin-Man

    2016-05-01

    A two-step face-hallucination framework is proposed to reconstruct a high-resolution (HR) version of a face from an input low-resolution (LR) face, based on learning from LR-HR example face pairs using orthogonal canonical correlation analysis (orthogonal CCA) and linear mapping. In the proposed algorithm, face images are first represented using principal component analysis (PCA). Canonical correlation analysis (CCA) with the orthogonality property is then employed, to maximize the correlation between the PCA coefficients of the LR and the HR face pairs to improve the hallucination performance. The original CCA does not own the orthogonality property, which is crucial for information reconstruction. We propose using orthogonal CCA, which is proven by experiments to achieve a better performance in terms of global face reconstruction. In addition, in the residual-compensation process, a linear-mapping method is proposed to include both the inter- and intrainformation about manifolds of different resolutions. Compared with other state-of-the-art approaches, the proposed framework can achieve a comparable, or even better, performance in terms of global face reconstruction and the visual quality of face hallucination. Experiments on images with various parameter settings and blurring distortions show that the proposed approach is robust and has great potential for real-world applications.

  10. Repetition effects in human ERPs to faces.

    PubMed

    Schweinberger, Stefan R; Neumann, Markus F

    2016-07-01

    In the present paper, we review research conducted over the past 25 years addressing the effects of repeating various kinds of information in faces (e.g., pictorial, spatial configural, identity, semantic) on different components in human event-related brain potentials (ERPs). This body of evidence suggests that several ERP components are systematically linked to different functional components of face identity processing. Specifically, we argue (1) that repetition of the category of faces (categorical adaptation) strongly affects the occipitotemporal N170 amplitude, which is systematically suppressed when a face is preceded by another face, irrespective of its identity, whereas (2) the prototypicality of a face's second order spatial configuration has a prominent effect on the subsequent occipitotemporal P200. Longer-latency repetition effects are related to the processing of individual facial identities. These include (3) an ERP correlate of the transient activation of individual representations of repeated faces in the form of an enhanced occipitotemporal N250r as seen in repetition priming experiments, and (4) a correlate of the acquisition of individual face identity representations during learning as seen in a topographically similar long-lasting N250 effect. Finally, (5) the repetition of semantic information in familiar person recognition elicits a central-parietal N400 ERP effect. We hope that this overview will encourage researchers to further exploit the potential of ERPs to provide a continuous time window to neuronal correlates of multiple processes in face perception under comparatively natural viewing conditions. PMID:26672902

  11. Eye movements during emotion recognition in faces.

    PubMed

    Schurgin, M W; Nelson, J; Iida, S; Ohira, H; Chiao, J Y; Franconeri, S L

    2014-01-01

    When distinguishing whether a face displays a certain emotion, some regions of the face may contain more useful information than others. Here we ask whether people differentially attend to distinct regions of a face when judging different emotions. Experiment 1 measured eye movements while participants discriminated between emotional (joy, anger, fear, sadness, shame, and disgust) and neutral facial expressions. Participant eye movements primarily fell in five distinct regions (eyes, upper nose, lower nose, upper lip, nasion). Distinct fixation patterns emerged for each emotion, such as a focus on the lips for joyful faces and a focus on the eyes for sad faces. These patterns were strongest for emotional faces but were still present when viewers sought evidence of emotion within neutral faces, indicating a goal-driven influence on eye-gaze patterns. Experiment 2 verified that these fixation patterns tended to reflect attention to the most diagnostic regions of the face for each emotion. Eye movements appear to follow both stimulus-driven and goal-driven perceptual strategies when decoding emotional information from a face. PMID:25406159

  12. Efficient human face detection in infancy.

    PubMed

    Jakobsen, Krisztina V; Umstead, Lindsey; Simpson, Elizabeth A

    2016-01-01

    Adults detect conspecific faces more efficiently than heterospecific faces; however, the development of this own-species bias (OSB) remains unexplored. We tested whether 6- and 11-month-olds exhibit OSB in their attention to human and animal faces in complex visual displays with high perceptual load (25 images competing for attention). Infants (n = 48) and adults (n = 43) passively viewed arrays containing a face among 24 non-face distractors while we measured their gaze with remote eye tracking. While OSB is typically not observed until about 9 months, we found that, already by 6 months, human faces were more likely to be detected, were detected more quickly (attention capture), and received longer looks (attention holding) than animal faces. These data suggest that 6-month-olds already exhibit OSB in face detection efficiency, consistent with perceptual attunement. This specialization may reflect the biological importance of detecting conspecific faces, a foundational ability for early social interactions. PMID:26248583

  13. Fast skin color detector for face extraction

    NASA Astrophysics Data System (ADS)

    Chen, Lihui; Grecos, Christos

    2005-02-01

    Face detection is the first step for an automatic face recognition system. For color images, skin color filter is considered as an important method for removing non-face pixels. In the paper, we will propose a novel and efficient detector for skin color regions for face extraction. The detector processes the image in four steps: lighting compensation, skin color filter and mask refinement and fast patch identification. Experimental results show that our detector is more robust and efficient than other skin color filters.

  14. Face transplantation: a leading surgeon's perspective.

    PubMed

    Siemionow, M

    2011-10-01

    Twenty years of experience in the field of vascularized composite allografts (VCA) leading to the first US face transplantation is presented. Different experimental models and cadaveric studies in the VCA models are outlined. Development of face transplantation protocol and consent forms for Institutional Review Board approval is discussed. Different scientific, regulatory, and financial considerations that were required before approval of face transplantation are presented. The effort, importance, and role of multidisciplinary team approach are emphasized. Finally, the technical aspects of face transplantation and related immunologic and functional outcomes of the patients are discussed. PMID:21996172

  15. A Comparative View of Face Perception

    PubMed Central

    Leopold, David A.; Rhodes, Gillian

    2010-01-01

    Face perception serves as the basis for much of human social exchange. Diverse information can be extracted about an individual from a single glance at their face, including their identity, emotional state, and direction of attention. Neuropsychological and fMRI experiments reveal a complex network of specialized areas in the human brain supporting these face-reading skills. Here we consider the evolutionary roots of human face perception by exploring the manner in which different animal species view and respond to faces. We focus on behavioral experiments collected from both primates and non-primates, assessing the types of information that animals are able to extract from the faces of their conspecifics, human experimenters, and natural predators. These experiments reveal that faces are an important category of visual stimuli for animals in all major vertebrate taxa, possibly reflecting the early emergence of neural specialization for faces in vertebrate evolution. At the same time, some aspects of facial perception are only evident in primates and a few other social mammals, and may therefore have evolved to suit the needs of complex social communication. Since the human brain likely utilizes both primitive and recently evolved neural specializations for the processing of faces, comparative studies may hold the key to understanding how these parallel circuits emerged during human evolution. PMID:20695655

  16. The intrinsic memorability of face photographs.

    PubMed

    Bainbridge, Wilma A; Isola, Phillip; Oliva, Aude

    2013-11-01

    The faces we encounter throughout our lives make different impressions on us: Some are remembered at first glance, while others are forgotten. Previous work has found that the distinctiveness of a face influences its memorability--the degree to which face images are remembered or forgotten. Here, we generalize the concept of face memorability in a large-scale memory study. First, we find that memorability is an intrinsic feature of a face photograph--across observers some faces are consistently more remembered or forgotten than others--indicating that memorability can be used for measuring, predicting, and manipulating subsequent memories. Second, we determine the role that 20 personality, social, and memory-related traits play in face memorability. Whereas we find that certain traits (such as kindness, atypicality, and trustworthiness) contribute to face memorability, they do not suffice to explain the variance in memorability scores, even when accounting for noise and differences in subjective experience. This suggests that memorability itself is a consistent, singular measure of a face that cannot be reduced to a simple combination of personality and social facial attributes. We outline modern neuroscience questions that can be explored through the lens of memorability. PMID:24246059

  17. Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria

    PubMed Central

    Anderson, Donald D.; Quintero, Cynthia M.; Stover, Patrick J.

    2011-01-01

    The de novo and salvage dTTP pathways are essential for maintaining cellular dTTP pools to ensure the faithful replication of both mitochondrial and nuclear DNA. Disregulation of dTTP pools results in mitochondrial dysfunction and nuclear genome instability due to an increase in uracil misincorporation. In this study, we identified a de novo dTMP synthesis pathway in mammalian mitochondria. Mitochondria purified from wild-type Chinese hamster ovary (CHO) cells and HepG2 cells converted dUMP to dTMP in the presence of NADPH and serine, through the activities of mitochondrial serine hydroxymethyltransferase (SHMT2), thymidylate synthase (TYMS), and a novel human mitochondrial dihydrofolate reductase (DHFR) previously thought to be a pseudogene known as dihydrofolate reductase-like protein 1 (DHFRL1). Human DHFRL1, SHMT2, and TYMS were localized to mitochondrial matrix and inner membrane, confirming the presence of this pathway in mitochondria. Knockdown of DHFRL1 using siRNA eliminated DHFR activity in mitochondria. DHFRL1 expression in CHO glyC, a previously uncharacterized mutant glycine auxotrophic cell line, rescued the glycine auxotrophy. De novo thymidylate synthesis activity was diminished in mitochondria isolated from glyA CHO cells that lack SHMT2 activity, as well as mitochondria isolated from wild-type CHO cells treated with methotrexate, a DHFR inhibitor. De novo thymidylate synthesis in mitochondria prevents uracil accumulation in mitochondrial DNA (mtDNA), as uracil levels in mtDNA isolated from glyA CHO cells was 40% higher than observed in mtDNA isolated from wild-type CHO cells. These data indicate that unlike other nucleotides, de novo dTMP synthesis occurs within mitochondria and is essential for mtDNA integrity. PMID:21876188

  18. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

    PubMed Central

    Kun-Rodrigues, Celia; Ganos, Christos; Guerreiro, Rita; Schneider, Susanne A.; Schulte, Claudia; Lesage, Suzanne; Darwent, Lee; Holmans, Peter; Singleton, Andrew; Bhatia, Kailash; Bras, Jose

    2015-01-01

    Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent–child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein–protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes. PMID:26362251

  19. Development of de novo major involvement during follow-up in Behçet's syndrome.

    PubMed

    Talarico, Rosaria; Cantarini, Luca; d'Ascanio, Anna; Figus, Michele; Favati, Benedetta; Baldini, Chiara; Tani, Chiara; Neri, R; Bombardieri, Stefano; Mosca, Marta

    2016-01-01

    The primary aim of the study was to evaluate the incidence of de novo major involvement during follow-up in a cohort of patients with Behçet's syndrome (BS); the secondary aim was to analyse the epidemiological profile and the long-term outcome of those patients who developed new major involvement. Among our cohort of 120 BS patients, we evaluated all subjects who had no major organ involvement during the early years of their disease; specifically, at disease onset, the 52% of the cohort presented a prevalent mucocutaneous involvement. The primary outcomes were represented by the following: Hatemi et al. (Rheum Dis Clin North Am 39(2):245-61, 2013) the incidence of de novo major involvement during the follow-up and Hatemi et al. (Clin Exp Rheumatol 32(4 Suppl 84):S112-22, 2014) the use of immunosuppressive drugs during the follow-up. We have defined the development of de novo major involvement during the follow-up as the occurrence of severe ocular, vascular or CNS involvement after a latency period from the diagnosis of at least 3 years. Among 62 patients characterized by a mild onset of disease, we observed that after at least 3 years from the diagnosis, 21 BS patients (34%) still developed serious morbidities. Specifically, three patients developed ocular involvement, nine patients developed neurological involvement and nine patients presented vascular involvement. Comparing main epidemiological and clinical findings of the two groups, we observed that patients who developed de novo major involvement were more frequently males and younger; furthermore, 95% of these patients were characterized by a young onset of disease (p < 0.001). Being free of major organ complication in the first years of BS is not necessary a sign of a favourable outcome. Globally, the development of de novo major involvement during the coursfce of BS suggests that a tight control is strongly recommended during the course of the disease. PMID:25750177

  20. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity.

    PubMed

    Adey, Andrew; Kitzman, Jacob O; Burton, Joshua N; Daza, Riza; Kumar, Akash; Christiansen, Lena; Ronaghi, Mostafa; Amini, Sasan; Gunderson, Kevin L; Steemers, Frank J; Shendure, Jay

    2014-12-01

    We describe a method that exploits contiguity preserving transposase sequencing (CPT-seq) to facilitate the scaffolding of de novo genome assemblies. CPT-seq is an entirely in vitro means of generating libraries comprised of 9216 indexed pools, each of which contains thousands of sparsely sequenced long fragments ranging from 5 kilobases to > 1 megabase. These pools are "subhaploid," in that the lengths of fragments contained in each pool sums to ∼5% to 10% of the full genome. The scaffolding approach described here, termed fragScaff, leverages coincidences between the content of different pools as a source of contiguity information. Specifically, CPT-seq data is mapped to a de novo genome assembly, followed by the identification of pairs of contigs or scaffolds whose ends disproportionately co-occur in the same indexed pools, consistent with true adjacency in the genome. Such candidate "joins" are used to construct a graph, which is then resolved by a minimum spanning tree. As a proof-of-concept, we apply CPT-seq and fragScaff to substantially boost the contiguity of de novo assemblies of the human, mouse, and fly genomes, increasing the scaffold N50 of de novo assemblies by eight- to 57-fold with high accuracy. We also demonstrate that fragScaff is complementary to Hi-C-based contact probability maps, providing midrange contiguity to support robust, accurate chromosome-scale de novo genome assemblies without the need for laborious in vivo cloning steps. Finally, we demonstrate CPT-seq as a means of anchoring unplaced novel human contigs to the reference genome as well as for detecting misassembled sequences. PMID:25327137