Can pictorial warning labels on cigarette packages address smoking-related health disparities? Field experiments in Mexico to assess pictorial warning label content.

Science.gov (United States)

Thrasher, James F; Arillo-Santillán, Edna; Villalobos, Victor; Pérez-Hernández, Rosaura; Hammond, David; Carter, Jarvis; Sebrié, Ernesto; Sansores, Raul; Regalado-Piñeda, Justino

2012-03-01

The objective of this study was to determine the most effective content of pictorial health warning labels (HWLs) and whether educational attainment moderates these effects. Field experiments were conducted with 529 adult smokers and 530 young adults (258 nonsmokers; 271 smokers). Participants reported responses to different pictorial HWLs printed on cigarette packages. One experiment involved manipulating textual form (testimonial narrative vs. didactic) and the other involved manipulating image type (diseased organs vs. human suffering). Tests of mean ratings and rankings indicated that pictorial HWLs with didactic textual forms had equivalent or significantly higher credibility, relevance, and impact than pictorial HWLs with testimonial forms. Results from mixed-effects models confirmed these results. However, responses differed by participant educational attainment: didactic forms were consistently rated higher than testimonials among participants with higher education, whereas the difference between didactic and testimonial narrative forms was weaker or not statistically significant among participants with lower education. In the second experiment, with textual content held constant, greater credibility, relevance, and impact was found for graphic imagery of diseased organs than imagery of human suffering. Pictorial HWLs with didactic textual forms seem to work better than those with testimonial narratives. Future research should determine which pictorial HWL content has the greatest real-world impact among consumers from disadvantaged groups, including assessment of how HWL content should change to maintain its impact as tobacco control environments strengthen and consumer awareness of smoking-related risks increases.

Magnetic resonance features of primary central nervous system lymphoma in the immunocompetent patient: a pictorial essay

International Nuclear Information System (INIS)

Yap, Kelvin K.; Sutherland, Tom; Liew, Elain; Tartaglia, Con J.; Trost, Nick; Pang, Mei

2012-01-01

Primary central nervous system lymphoma (PCNSL) is an uncommon but important variant of non-Hodgkin lymphoma and represents up to 6% of all primary central nervous system (CNS) malignancies. Recognition of this entity by radiologist on MRI may avoid unnecessary neurosurgical resection and redirect to biopsy. The pretreatment MRI of patients with biopsy proven PCNSL from the last 5 years at our institution was reviewed. Selected examples were used to construct a pictorial essay to illustrate some of the typical and atypical MR features of PCNSL. MRI of other CNS conditions with imaging similarities to PCNSL was included to demonstrate possible mimics. The typical features of PCNSL lymphoma are intra-axial homogenous single or multiple contrast enhancing lesions, with marked surrounding oedema and restricted diffusion, usually contacting a cerebrospinal fluid (CSF) surface. Necrosis, peripheral enhancement, haemorrhage or calcification are unusual and other diagnoses should be considered if any of these features are present. Potential mimics include high grade glioma, infarcts, metastatic disease, demyelination, abscess and secondary lymphoma. Careful assessment of the MR features and correlation with the clinical findings should enable the radiologists to raise the possibility of PCNSL and minimise the risk of unnecessary resection.

VISUAL LITERACY AND DOMINANCE OF THE PICTORIAL WORLD

OpenAIRE

Supsakova, Bozena

2018-01-01

The dominance of the pictorial world forms the beginning of the effect of new visual civilisation in the 21st century. Today, we already know that photograph, film and television are just fist stage of visual era. The modern phenomena of digitalisation and mass communication related to the development of information and communication technologies and Internet, dramatically saturate the pictures and pictorial messages to public space and thus also to our everyday life. Posters, billboards and ...

Multidetector CT angiography of renal vasculature: normal anatomy and variants

Energy Technology Data Exchange (ETDEWEB)

Tuerkvatan, Aysel; Oezdemir, Mustafa; Cumhur, Turhan; Oelcer, Tuelay [Tuerkiye Yueksek ihtisas Hospital, Department of Radiology, Sihhiye, Ankara (Turkey)

2009-01-15

Knowledge of the variations in renal vascular anatomy is important before laparoscopic donor or partial nephrectomy and vascular reconstruction for renal artery stenosis or abdominal aortic aneurysm. Recently, multidetector computed tomographic (MDCT) angiography has become a principal imaging investigation for assessment of the renal vasculature and has challenged the role of conventional angiography. It is an excellent imaging technique because it is a fast and non-invasive tool that provides highly accurate and detailed evaluation of normal renal vascular anatomy and variants. The number, size and course of the renal arteries and veins are easily identified by MDCT angiography. The purpose of this pictorial essay is to illustrate MDCT angiographic appearance of normal anatomy and common variants of the renal vasculature. (orig.)

Multidetector CT angiography of renal vasculature: normal anatomy and variants

International Nuclear Information System (INIS)

Tuerkvatan, Aysel; Oezdemir, Mustafa; Cumhur, Turhan; Oelcer, Tuelay

2009-01-01

Knowledge of the variations in renal vascular anatomy is important before laparoscopic donor or partial nephrectomy and vascular reconstruction for renal artery stenosis or abdominal aortic aneurysm. Recently, multidetector computed tomographic (MDCT) angiography has become a principal imaging investigation for assessment of the renal vasculature and has challenged the role of conventional angiography. It is an excellent imaging technique because it is a fast and non-invasive tool that provides highly accurate and detailed evaluation of normal renal vascular anatomy and variants. The number, size and course of the renal arteries and veins are easily identified by MDCT angiography. The purpose of this pictorial essay is to illustrate MDCT angiographic appearance of normal anatomy and common variants of the renal vasculature. (orig.)

Common findings and pseudolesions at computed tomography colonography: pictorial essay

International Nuclear Information System (INIS)

Atzingen, Augusto Castelli von; Tiferes, Dario Ariel; Matsumoto, Carlos Alberto; Nunes, Thiago Franchi; Maia, Marcos Vinicius Alvim Soares; D'Ippolito, Giuseppe

2012-01-01

Computed tomography colonography is a minimally invasive method for screening for polyps and colorectal cancer, with extremely unusual complications, increasingly used in the clinical practice. In the last decade, developments in bowel preparation, imaging, and in the training of investigators have determined a significant increase in the method sensitivity. Images interpretation is accomplished through a combined analysis of two-dimensional source images and several types of three-dimensional renderings, with sensitivity around 96% in the detection of lesions with dimensions equal or greater than 10 mm in size, when analyzed by experienced radiologists. The present pictorial essay includes examples of diseases and pseudolesions most frequently observed in this type of imaging study. The authors present examples of flat and polypoid lesions, benign and malignant lesions, diverticular disease of the colon, among other conditions, as well as pseudolesions, including those related to inappropriate bowel preparation and misinterpretation. (author)

Common findings and pseudolesions at computed tomography colonography: pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Atzingen, Augusto Castelli von [Clinical Radiology, Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP (Brazil); Tiferes, Dario Ariel; Matsumoto, Carlos Alberto; Nunes, Thiago Franchi; Maia, Marcos Vinicius Alvim Soares [Abdominal Imaging Section, Department of Imaging Diagnosis - Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP (Brazil); D' Ippolito, Giuseppe, E-mail: giuseppe_dr@uol.com.br [Department of Imaging Diagnosis, Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP (Brazil)

2012-05-15

Computed tomography colonography is a minimally invasive method for screening for polyps and colorectal cancer, with extremely unusual complications, increasingly used in the clinical practice. In the last decade, developments in bowel preparation, imaging, and in the training of investigators have determined a significant increase in the method sensitivity. Images interpretation is accomplished through a combined analysis of two-dimensional source images and several types of three-dimensional renderings, with sensitivity around 96% in the detection of lesions with dimensions equal or greater than 10 mm in size, when analyzed by experienced radiologists. The present pictorial essay includes examples of diseases and pseudolesions most frequently observed in this type of imaging study. The authors present examples of flat and polypoid lesions, benign and malignant lesions, diverticular disease of the colon, among other conditions, as well as pseudolesions, including those related to inappropriate bowel preparation and misinterpretation. (author)

Pictorial cigarette pack warnings: a meta-analysis of experimental studies.

Science.gov (United States)

Noar, Seth M; Hall, Marissa G; Francis, Diane B; Ribisl, Kurt M; Pepper, Jessica K; Brewer, Noel T

2016-05-01

To inform international research and policy, we conducted a meta-analysis of the experimental literature on pictorial cigarette pack warnings. We systematically searched 7 computerised databases in April 2013 using several search terms. We also searched reference lists of relevant articles. We included studies that used an experimental protocol to test cigarette pack warnings and reported data on both pictorial and text-only conditions. 37 studies with data on 48 independent samples (N=33,613) met criteria. Two independent coders coded all study characteristics. Effect sizes were computed from data extracted from study reports and were combined using random effects meta-analytic procedures. Pictorial warnings were more effective than text-only warnings for 12 of 17 effectiveness outcomes (all pnegative pack attitudes and negative smoking attitudes and (4) more effectively increased intentions to not start smoking and to quit smoking. Participants also perceived pictorial warnings as being more effective than text-only warnings across all 8 perceived effectiveness outcomes. The evidence from this international body of literature supports pictorial cigarette pack warnings as more effective than text-only warnings. Gaps in the literature include a lack of assessment of smoking behaviour and a dearth of theory-based research on how warnings exert their effects. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

The effect of pictorial warnings on cigarette packages on attentional bias of smokers.

Science.gov (United States)

Loeber, Sabine; Vollstädt-Klein, Sabine; Wilden, Sophia; Schneider, Sven; Rockenbach, Christine; Dinter, Christina; von der Goltz, Christoph; Hermann, Derik; Wagner, Michael; Winterer, Georg; Kiefer, Falk

2011-04-01

Given that previous studies demonstrated that smoking-related cues (like cigarette packages) grab the attention of smokers and thereby contribute to craving and tobacco seeking we investigated how pictorial health warnings presented on cigarette packages affect attention allocation towards cigarette packages. The WHO advises the use of pictorial health warnings on cigarette packages. However, at present no experimental studies are available investigating if pictorial warnings modulate incentive properties of cigarette packages. Fifty-nine tobacco smokers and 55 non-smokers performed a visual dot probe task to assess attention allocation towards cigarette packages with and without health warnings. Smokers were divided a priori in a group of light smokers (smokers (≥20 cigarettes/day; n=20). Psychometric measures on anxiety and nicotine craving were administered. Light smokers showed an attentional bias towards packages without pictorial warnings while no effects were observed in the other groups. In heavy smokers attention allocation towards pictorial health warnings was associated with an increase of craving and anxiety. The results have a potential public health perspective as pictorial health warnings might be an effective strategy to reduce attentional bias towards cigarette packages of light smokers, while counterproductive effects in heavy smokers warrant further investigation. Copyright © 2011 Elsevier B.V. All rights reserved.

Analysis of Motions in Comic Book Cover Art: Using Pictorial Metaphors

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Igor Juricevic

2016-04-01

Full Text Available Motion can be depicted using literal pictorial devices (representing features present in the real world and metaphorical pictorial devices (representing features that do not occur in the real world. How are literal and metaphorical pictorial devices used in comic book cover art? We analyzed the pictorial devices used to depict the motion 'running' in 400 Silver Age (1956–1971 and Bronze Age (c. 1970–1985 superhero comic book covers (Frankenhoff & Thompson, 2012. Literal devices (such as arm and leg positions were used additively; that is, artists preferred to use many literal devices. On the other hand, metaphorical devices (such as action lines were not used additively; artists preferred to use only one metaphorical device. We propose the Literal Additive Metaphorical One-And-Done (LA-MOAD theory to account for the use of literal and metaphorical devices in comic book cover art. The differential use of literal and metaphorical devices by comic book artists may be unique to comic book cover art, or it may reflect a basic function of our visual system. 

Pictorial essay: Orbital tuberculosis

International Nuclear Information System (INIS)

Narula, Mahender K; Chaudhary, Vikas; Baruah, Dhiraj; Kathuria, Manoj; Anand, Rama

2010-01-01

Tuberculosis of the orbit is rare, even in places where tuberculosis is endemic. The disease may involve soft tissue, the lacrimal gland, or the periosteum or bones of the orbital wall. Intracranial extension, in the form of extradural abscess, and infratemporal fossa extension has been described. This pictorial essay illustrates the imaging findings of nine histopathologically confirmed cases of orbital tuberculosis. All these patients responded to antituberculous treatment

Implicit motivational impact of pictorial health warning on cigarette packs.

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Eliane Volchan

Full Text Available OBJECTIVE: The use of pictorial warning labels on cigarette packages is one of the provisions included in the first ever global health treaty by the World Health Organization against the tobacco epidemic. There is substantial evidence demonstrating the effectiveness of graphic health warning labels on intention to quit, thoughts about health risks and engaging in cessation behaviors. However, studies that address the implicit emotional drives evoked by such warnings are still underexplored. Here, we provide experimental data for the use of pictorial health warnings as a reliable strategy for tobacco control. METHODS: Experiment 1 pre-tested nineteen prototypes of pictorial warnings to screen for their emotional impact. Participants (n = 338 were young adults balanced in gender, smoking status and education. Experiment 2 (n = 63 tested pictorial warnings (ten that were stamped on packs. We employed an innovative set-up to investigate the impact of the warnings on the ordinary attitude of packs' manipulation, and quantified judgments of warnings' emotional strength and efficacy against smoking. FINDINGS: Experiment 1 revealed that women judged the warning prototypes as more aversive than men, and smokers judged them more aversive than non-smokers. Participants with lower education judged the prototypes more aversive than participants with higher education. Experiment 2 showed that stamped warnings antagonized the appeal of the brands by imposing a cost to manipulate the cigarette packs, especially for smokers. Additionally, participants' judgments revealed that the more aversive a warning, the more it is perceived as effective against smoking. CONCLUSIONS: Health warning labels are one of the key components of the integrated approach to control the global tobacco epidemic. The evidence presented in this study adds to the understanding of how implicit responses to pictorial warnings may contribute to behavioral change.

Implicit Motivational Impact of Pictorial Health Warning on Cigarette Packs

Science.gov (United States)

Volchan, Eliane; David, Isabel A.; Tavares, Gisella; Nascimento, Billy M.; Oliveira, Jose M.; Gleiser, Sonia; Szklo, Andre; Perez, Cristina; Cavalcante, Tania; Pereira, Mirtes G.; Oliveira, Leticia

2013-01-01

Objective The use of pictorial warning labels on cigarette packages is one of the provisions included in the first ever global health treaty by the World Health Organization against the tobacco epidemic. There is substantial evidence demonstrating the effectiveness of graphic health warning labels on intention to quit, thoughts about health risks and engaging in cessation behaviors. However, studies that address the implicit emotional drives evoked by such warnings are still underexplored. Here, we provide experimental data for the use of pictorial health warnings as a reliable strategy for tobacco control. Methods Experiment 1 pre-tested nineteen prototypes of pictorial warnings to screen for their emotional impact. Participants (n = 338) were young adults balanced in gender, smoking status and education. Experiment 2 (n = 63) tested pictorial warnings (ten) that were stamped on packs. We employed an innovative set-up to investigate the impact of the warnings on the ordinary attitude of packs’ manipulation, and quantified judgments of warnings’ emotional strength and efficacy against smoking. Findings Experiment 1 revealed that women judged the warning prototypes as more aversive than men, and smokers judged them more aversive than non-smokers. Participants with lower education judged the prototypes more aversive than participants with higher education. Experiment 2 showed that stamped warnings antagonized the appeal of the brands by imposing a cost to manipulate the cigarette packs, especially for smokers. Additionally, participants’ judgments revealed that the more aversive a warning, the more it is perceived as effective against smoking. Conclusions Health warning labels are one of the key components of the integrated approach to control the global tobacco epidemic. The evidence presented in this study adds to the understanding of how implicit responses to pictorial warnings may contribute to behavioral change. PMID:23977223

SOFT CORONAL X-RAYS FROM {beta} PICTORIS

Energy Technology Data Exchange (ETDEWEB)

Guenther, H. M.; Wolk, S. J.; Drake, J. J. [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States); Lisse, C. M. [Johns Hopkins University Applied Physics Laboratory, 11100 Johns Hopkins Road, Laurel, MD 20723 (United States); Robrade, J.; Schmitt, J. H. M. M., E-mail: hguenther@cfa.harvard.edu [Hamburger Sternwarte, Universitaet Hamburg, Gojenbergsweg 112, 21029 Hamburg (Germany)

2012-05-01

A-type stars are expected to be X-ray dark, yet weak emission has been detected from several objects in this class. We present new Chandra/HRC-I observations of the A5 V star {beta} Pictoris. It is clearly detected with a flux of (9 {+-} 2) Multiplication-Sign 10{sup -4} counts s{sup -1}. In comparison with previous data this constrains the emission mechanism and we find that the most likely explanation is an optically thin, collisionally dominated, thermal emission component with a temperature around 1.1 MK. We interpret this component as a very cool and dim corona, with log L{sub X} /L{sub bol} = -8.2 (0.2-2.0 keV). Thus, it seems that {beta} Pictoris shares more characteristics with cool stars than previously thought.

Pictorial and multimodal metaphor in commercials

NARCIS (Netherlands)

Forceville, C.; McQuarrie, E.F.; Phillips, B.J.

2008-01-01

Deploying metaphor is an attractive and efficient way for advertisers to make positive claims for their products, brands, or services. For a long time, metaphor studies focused almost exclusively on language, but over the past fifteen years, the concept of pictorial (or visual) metaphor has been

Identifying Organizational Inefficiencies with Pictorial Process Analysis (PPA

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David John Patrishkoff

2013-11-01

Full Text Available Pictorial Process Analysis (PPA was created by the author in 2004. PPA is a unique methodology which offers ten layers of additional analysis when compared to standard process mapping techniques.  The goal of PPA is to identify and eliminate waste, inefficiencies and risk in manufacturing or transactional business processes at 5 levels in an organization. The highest level being assessed is the process management, followed by the process work environment, detailed work habits, process performance metrics and general attitudes towards the process. This detailed process assessment and analysis is carried out during process improvement brainstorming efforts and Kaizen events. PPA creates a detailed visual efficiency rating for each step of the process under review.  A selection of 54 pictorial Inefficiency Icons (cards are available for use to highlight major inefficiencies and risks that are present in the business process under review. These inefficiency icons were identified during the author's independent research on the topic of why things go wrong in business. This paper will highlight how PPA was developed and show the steps required to conduct Pictorial Process Analysis on a sample manufacturing process. The author has successfully used PPA to dramatically improve business processes in over 55 different industries since 2004.  

Pictorial essay of radiological features of benign intrathoracic masses

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Syahminan Suut

2015-01-01

Full Text Available With increased exposure of patients to routine imaging, incidental benign intrathoracic masses are frequently recognized. Most have classical imaging features, which are pathognomonic for their benignity. The aim of this pictorial review is to educate the reader of radiological features of several types of intrathoracic masses. The masses are categorized based on their location/origin and are grouped into parenchymal, pleural, mediastinal, or bronchial. Thoracic wall masses that invade the thorax such as neurofibromas and lipomas are included as they may mimic intrathoracic masses. All examples are illustrated and include pulmonary hamartoma, pleural fibroma, sarcoidosis, bronchial carcinoid, and bronchoceles together with a variety of mediastinal cysts on plain radiographs, computed tomography (CT and magnetic resonance imaging (MRI. Sometimes a multimodality approach would be needed to confirm the diagnosis in atypical cases. The study would include the incorporation of radionuclide studies and relevant discussion in a multidisciplinary setting.

Factors to Consider When Designing Television Pictorials

Science.gov (United States)

Trohanis, Pascal; Du Monceau, Michael

1971-01-01

The authors have developed a framework for improving the visual communication element of television. After warning that seeing is not enough to insure learning they discuss the five pre-production components which research indicates should be considered when designing television pictorials." (Editor)

Comprehension of Disaster Pictorials across Cultures

Science.gov (United States)

Blees, Gerda J.; Mak, Willem M.

2012-01-01

In different countries, the use of pictorial information symbols to convey warnings and instructions is becoming more common. An important reason for this is that people from a variety of cultures can understand graphical symbols. However, symbols developed in one culture may not have the same meaning for people from other cultures. This study…

The Use of Pictorial Illustrations in African Language Dictionaries

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Lilian Gangla-Birir

2011-10-01

Full Text Available

ABSTRACT: This article examines the use of pictorial illustrations in African language dictionar-ies, with particular reference to items generally included in dictionaries based on Stein's (1991 categories. It argues for the need to include more illustrations of cultural items specific to a par-ticular community and language group in dictionaries. A corpus analytic survey is done to deter-mine if African language dictionaries employ pictorial illustrations and, if so, which items are illus-trated. The results of this survey indicate that only a few African language dictionaries employ pictorial illustrations, even those that do correspond to Stein's categories. Of the dictionaries exam-ined, only one uses illustrations in the form of full-colour photographs, namely of different kinds of cattle, a very important cultural item within that specific community.

Keywords: PICTORIAL ILLUSTRATIONS, CULTURE, LEXICOGRAPHY, BILINGUAL DIC-TIONARY, MONOLINGUAL DICTIONARY, AFRICAN LANGUAGE

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OPSOMMING: Die gebruik van beeldillustrasies in Afrikataalwoordeboeke. Hierdie artikel ondersoek die gebruik van beeldillustrasies in Afrikataalwoordeboeke met spesiale verwysing na items wat gewoonlik in woordeboeke ingesluit word, gebaseer op Stein (1991 se kategorieë. Dit betoog vir die noodsaaklikheid om meer illustrasies van kulturele items eie aan 'n besondere gemeenskap of taalgroep in woordeboeke in te sluit. 'n Analitiese oorsig van 'n korpus is gedoen om te bepaal of Afrikataalwoordeboeke beeldillustrasies gebruik, en, indien wel, watter items geïllustreer word. Die resultate van hierdie oorsig toon aan dat slegs 'n paar Afrikataalwoor-deboeke beeldillustrasies gebruik, selfs dié wat met Stein se kategorieë ooreenstem. Van die woor-deboeke wat ondersoek is, gebruik net een illustrasies in die vorm van volkleurfoto's, naamlik van verskillende soorte beeste, 'n baie belangrike kulturele item binne daardie spesifieke gemeenskap

Persepsi Perokok Aktif Terhadap Label Pictorial Health Warning pada Masyarakat Desa Rumah Kabanjahe

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Kristian Adi Putra Sitepu

2014-12-01

Full Text Available In the wake of this study by the Government Regulation No. 109 of 2012 on the inclusion of images and text health warnings / pictorial health warnings on cigarette packs. The norm of this aims to reduce the negative health effects, protect productive age population and increasing public awareness of the dangers of smoking. Against the background of the norm of the government, the study was intended to determine the perception of active smokers the pictorial health warning labels on packs of cigarettes there. In this study, the method used is descriptive method with qualitative data. Data collected through library research informant interviews, and documentation. The results showed that smokers know their pictorial health warning labels on packs of cigarettes and smokers can understand the meaning of their label. Knowledge smokers against pictorial health warning label does not make the smokers to quit smoking, they continue to smoke because of their experience does not suffer due to take up smoking, and the effects felt far different from what was stated on the packaging that has been made. Thus we can say the perception of smokers tend to deny the existence of the warning label.

Linking mass media campaigns to pictorial warning labels on cigarette packages: a cross-sectional study to evaluate effects among Mexican smokers.

Science.gov (United States)

Thrasher, James F; Murukutla, Nandita; Pérez-Hernández, Rosaura; Alday, Jorge; Arillo-Santillán, Edna; Cedillo, Claudia; Gutierrez, Juan Pablo

2013-05-01

This study assessed the effects of pictorial health warning labels (HWLs) and a linked media campaign in Mexico. Cross-sectional data were collected from a population-based sample of 1756 adult smokers, aged 18-55 years, during the initial implementation of pictorial HWLs, which some smokers had seen on cigarette packages while others had seen only the text-based HWLs. Exposure to the campaign and pictorial HWLs was assessed with aided recall methods, and other questions addressed attention and cognitive impact of HWLs, knowledge related to HWL and campaign content, and quit-related thoughts and behaviours. Logistic and linear regression models were estimated to determine associations between key outcomes and intervention exposure. In bivariate and multivariate adjusted models, recall of pictorial HWLs and of the campaign were positively associated with greater attention to and cognitive impact of HWLs, whereas only pictorial HWL exposure was associated with having refrained from smoking due to HWLs. Both recall of pictorial HWLs and of the campaign were independently associated with greater knowledge of secondhand smoke harms and toxic tobacco constituents. Smokers who recalled only the pictorial HWLs were more likely to try to quit than smokers who recalled neither the pictorial HWLs nor the campaign (17% vs 6%, pmedia campaign was associated with independent additive effects on campaign-related knowledge, and it enhanced psychosocial responses to pictorial HWLs.

Picture versus words: A comparison of pictorial and verbal informed assent formats

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Siddharth Dutt

2018-01-01

Full Text Available Background for the Study: Informed consent is a process of obtaining permission from the participant to participate in research. Involving children in a research requires them to give their “assent” for participation. Informed assent is obtained from children even after their guardians have given consent for participation. Studies have shown that children have difficulty understanding the key elements of research process such as right to withdraw from the study or the meaning of “harm” involved in the research process. Further, the studies have also propounded that using child-friendly methods such as using pictures and simple language would facilitate children's understanding. Objectives: In this study, pictorial and verbal assent formats were compared find out which format is suitable for children's understanding of informed assent with respect to research. Methods: A sample of 389 school going children and adolescents of both the gender, ranging from 7 to 16 years were considered for the study. The sample was randomly divided into two groups, where for one group (n = 197, pictorial assent format was administered and another group (n = 192, verbal assent format was administered. The pictorial assent format was developed for the study by the corresponding author. Results and Conclusions: Analysis revealed that there was a significant level of interaction between gender and the two assent formats. Males were able to understand pictorial assent format better compared to the females, whereas females were able to understand verbal assent format better than the males, when age and education were considered as covariates. Further, it was found that as age increases there is better understanding of research processes in both the formats. Hence, while the process of obtaining assent for participation in research, age of child must be considered and with respect to gender differences males tend to prefer pictorial formats whereas females tend to

Does Pictorial Elucidation Foster Recollection of Idioms?

Science.gov (United States)

Boers, Frank; Piquer Piriz, Ana Maria; Stengers, Helene; Eyckmans, June

2009-01-01

Experimental evidence suggests that pictorial elucidation helps learners comprehend and remember the meaning of second language (L2) idioms. In this article we address the question whether it also helps retention of the form of idioms, i.e. their precise lexical composition. In a small-scale experiment, the meaning of English idioms was clarified…

The development of the Pictorial Thai Quality of Life.

Science.gov (United States)

Phattharayuttawat, Sucheera; Ngamthipwatthana, Thienchai; Pitiyawaranun, Buncha

2005-11-01

"Quality of life" has become a main focus of interest in medicine. The Pictorial Thai Quality of Life (PTQL) was developed in order to measure the Thai mental illness both in a clinical setting and community. The purpose of this study was to develop the Pictorial Thai Quality of Life (PTQL), having adequate and sufficient construct validity, discriminant power, concurrent validity, and reliability. To develop the Pictorial Thai Quality of Life Test, two samples groups were used in the present study: (1) pilot study samples: 30 samples and (2) survey samples were 672 samples consisting of normal, and psychiatric patients. The developing tests items were collected from a review of the literature in which all the items were based on the WHO definition of Quality of Life. Then, experts judgment by the Delphi technique was used in the first stage. After that a pilot study was used to evaluate the testing administration, and wording of the tests items. The final stage was collected data from the survey samples. The results of the present study showed that the final test was composed 25 items. The construct validity of this test consists of six domains: Physical, Cognitive, Affective, Social Function, Economic and Self-Esteem. All the PTQL items have sufficient discriminant power It was found to be statistically significant different at the. 001 level between those people with mental disorders and normal people. There was a high level of concurrent validity association with WHOQOL-BREF, Pearson correlation coefficient and Area under ROC curve were 0.92 and 0.97 respectively. The reliability coefficients for the Alpha coefficients of the PTQL total test was 0.88. The values of the six scales were from 0.81 to 0:91. The present study was directed at developing an effective psychometric properties pictorial quality of life questionnaire. The result will be a more direct and meaningful application of an instrument to detect the mental health illness poor quality of life in

Textual and Pictorial Glosses: Effectiveness on Incidental Vocabulary Growth When Reading in a Foreign Language.

Science.gov (United States)

Kost, Claudia R.; Foss, Pamelo; Lenzini, John J.

1999-01-01

Investigates the effects of pictorial and textual glosses and a combination thereof on incidental vocabulary growth of foreign language learners. Subjects from second-semester German classes read a narrative text passage under one of three marginal gloss conditions: textual gloss (English translation); pictorial gloss; and text and pictures in the…

Anatomy of the ankle ligaments: a pictorial essay

NARCIS (Netherlands)

Golanó, Pau; Vega, Jordi; de Leeuw, Peter A. J.; Malagelada, Francesc; Manzanares, M. Cristina; Götzens, Víctor; van Dijk, C. Niek

2010-01-01

Understanding the anatomy of the ankle ligaments is important for correct diagnosis and treatment. Ankle ligament injury is the most frequent cause of acute ankle pain. Chronic ankle pain often finds its cause in laxity of one of the ankle ligaments. In this pictorial essay, the ligaments around the

Anatomy of the ankle ligaments: a pictorial essay

NARCIS (Netherlands)

Golanó, Pau; Vega, Jordi; de Leeuw, Peter A. J.; Malagelada, Francesc; Manzanares, M. Cristina; Götzens, Víctor; van Dijk, C. Niek

2016-01-01

Understanding the anatomy of the ankle ligaments is important for correct diagnosis and treatment. Ankle ligament injury is the most frequent cause of acute ankle pain. Chronic ankle pain often finds its cause in laxity of one of the ankle ligaments. In this pictorial essay, the ligaments around the

Preliminary Analyses of Transmedia Adaptations of Pictorial Narratives and Aesthetic Pole Interpretations: Reflections on Theory

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Yu-Chai Lai

2015-10-01

Full Text Available Transmedia narratives are a key topic of communication research. Transmedia adaptations occur when a narrator transposes an original work by using various media platforms. Considering pictorial turn, this study employed the intermediality of an animated work that was adapted from an award-winning picture book as an example to propose an analysis for theory building. After examining the literature on transmedia narratives, intermediality, and aesthetic communication, this study proposed analyses for the dimensions of transmedia adaptations of pictorial narratives and aesthetic pole interpretations. Focusing on the three layers of the artistic pole, aesthetic pole, and interactions and effects, this study cited the cases of award-winning picture books and adapted animated works as the basis for reflecting on aesthetic communication. The artistic pole of transmedia adaptation was used as an example of how a narrator employs intermediality by citing the pictures, plot, or art forms from an original work to reinvent structures and then adapts them according to intermediality. If the aesthetic pole views the adapted animated work after reading the picture book or forms an expectation of the adaptation because of intermediality, then when the audience watches the adapted animated work, their imagination could be stimulated by the intermediality (i.e., picture book graphics and scene depictions. For transmedia narrative interaction, the aesthetic pole must “fill blanks” or “negate” to continue to view the adaptation. For filling blanks, because of intermediality, the aesthetic pole must construct an “intracompositional intermediality” to connect with the visual and audio links of the same work or construct “extracompositional intermedialtiy” to associate the original work with the transmedia adaptation. For negation, when viewing the adaptation (i.e., presentation of picture book graphics, added music, or theme song, the aesthetic pole

MDCT imaging of post interventional liver: a pictorial essay

International Nuclear Information System (INIS)

Romano, Stefania; Tortora, Giovanni; Scaglione, Mariano; Lassandro, Francesco; Guidi, Guido; Grassi, Roberto; Romano, Luigia

2005-01-01

In this pictorial essay, we consider the post operative MDCT findings after liver resection, transplantation, surgical managed major trauma and radiofrequency ablation of focal lesions. Common complications such as fluid collections, hemorrhage, biloma, vascular disease, hematoma, abscesses will be also considered

Microanalysis of pictorial layers in polychrome sculptures

International Nuclear Information System (INIS)

Mendoza Cuevas, Ariadna

2008-01-01

Cross section samples from polychrome wood sculpture are analyzed by optical microscopy, the nuclear techniques: micro X Ray Fluorescence, micro Proton induced Xray Emission coupled with Rutherford Backscattering and the traditional method by Scanning Electronic Microscopy with Energy Dispersive Xray fluorescence detection (SEMEDX) microanalytical methods. Special emphasis is dedicated to mXRF, a novel advanced technique developed thanks to the last achievements of the Xray optics that can be available by modifying conventional laboratory XRF spectrometer, representing an alternative to the traditional and expensive SEMEDX stratigraphic analysis of pictorial works. The results are compared with respect to spatial resolution to differentiate pictorial layer structure and elemental sensitivity. Number of layer, relative position of layer, layer thickness and chemical composition of pigments are determined in the characterization of valuable polychromes of once church San Juan de Letrán in order to obtain information about their “material history” that should contribute to its provenance and attribution research. The pigments used in this artistic works were identified by their characteristic elements. The elemental distribution maps obtained by the used nuclear techniques precisely reproduced microphotographies obtained by means of Light Microscopy. (author)

25 CFR 309.13 - What are examples of other weaving and textiles that are Indian products?

Science.gov (United States)

2010-04-01

... Indian products? 309.13 Section 309.13 Indians INDIAN ARTS AND CRAFTS BOARD, DEPARTMENT OF THE INTERIOR PROTECTION OF INDIAN ARTS AND CRAFTS PRODUCTS § 309.13 What are examples of other weaving and textiles that..., star quilts, pictorial appliqué wall hangings, fiber woven bags, embroidered dance shawls, rabbit skin...

A Pictorial Approach to Lenz's Law

Science.gov (United States)

Duffy, Andrew

2018-01-01

This paper describes a pictorial approach to Lenz's law that involves following four steps and drawing three pictures to determine the direction of the current induced by a changing magnetic flux. Lenz's law accompanies Faraday's law, stating that, for a closed conducting loop, the induced emf (electromotive force) created by a changing magnetic…

Writing a pictorial essay.

Science.gov (United States)

Peh, W C G; Ng, K H

2010-03-01

A pictorial essay is a type of educational article that aims to provide both textual and visual portrayals of a topical issue. It usually consists of a short unstructured abstract, brief introduction, subheadings to organise the material and a summary. The number of references is limited to a few key articles, typically, eight to 15, or fewer. The text is usually short, often approximately 1,000 to 2,000 words in length, with much of the message contained in the figure legends. This type of article allows for a large number of figures, typically up to 20 figures or 30 figure parts. The main criteria for publication are currency, educational value and high quality of illustrations.

: Manet's pictorial production : a forgetful recollection

OpenAIRE

Massonnaud , Dominique

2000-01-01

International audience; Manet's pictorial production is both a necessary step for the discourse about what is commonly called "modernity" -as well as the discourse coming from "modernity"-, and a blind spot for critical analysis: his work seems to be left out of, or buried under, contemporary commentaries that appear to miss the point of what they address. Baudelaire, Huysmans, Zola at the end of his life, or critics of that time that are now forgotten, all seem not to actually grasp the esse...

A pictorial key and diagnosis of the Brazilian genera of Micropezidae (Diptera, Nerioidea

Directory of Open Access Journals (Sweden)

Gustavo Borges Ferro

2014-03-01

Full Text Available A pictorial key and diagnosis of the Brazilian genera of Micropezidae (Diptera, Nerioidea. This paper provides the first pictorial key and diagnosis for the Brazilian genera of the Micropezidae, based on external morphological characters illustrated with photographs. The key includes 13 genera: Cardiacephala Macquart, Cliobata Enderlein, Grallipeza Rondani, Metasphen Frey, Micropeza Meigen, Parasphen Enderlein, Planipeza Marshall, Plocoscelus Enderlein, Poecilotylus Hennig, Ptilosphen Enderlein, Rainieria Rondani, Scipopus Enderlein and Taeniaptera Macquart. For each genus, the species known to occur in Brazil are listed and their distribution records, including new ones, are provided.

Technology-Aided Pictorial Cues to Support the Performance of Daily Activities by Persons with Moderate Alzheimer's Disease

Science.gov (United States)

Lancioni, Giulio E.; Perilli, Viviana; Singh, Nirbhay N.; O'Reilly, Mark F.; Sigafoos, Jeff; Cassano, Germana; Pinto, Katia; Minervini, Mauro G.; Oliva, Doretta

2012-01-01

We developed a technology-aided intervention strategy relying on pictorial cues alone or in combination with verbal instructions and assessed these two versions of the strategy with three persons with moderate Alzheimer's disease. In Section I of the study, the strategy version with pictorial cues plus verbal instructions was compared with an…

Pictorial identification key for species of Sarcophagidae (Diptera of potential forensic importance in southern Brazil

Directory of Open Access Journals (Sweden)

Karine Pinto e Vairo

2011-09-01

Full Text Available Pictorial identification key for species of Sarcophagidae (Diptera of potential forensic importance in southern Brazil. Species of the subfamily Sarcophaginae are important to forensic entomology due to their necrophagous habits. This contribution presents a pictorial key for the identification of 22 Sarcophaginae species in 10 genera that are commonly found in southern Brazil. Photographs of the main structures used in species identification, mainly from the male terminalia, are provided.

An Approach to Object Recognition: Aligning Pictorial Descriptions.

Science.gov (United States)

1986-12-01

PERFORMING 0RGANIZATION NAMIE ANDORS IS551. PROGRAM ELEMENT. PROJECT. TASK Artificial Inteligence Laboratory AREKA A WORK UNIT NUMBERS ( 545 Technology... ARTIFICIAL INTELLIGENCE LABORATORY A.I. Memo No. 931 December, 1986 AN APPROACH TO OBJECT RECOGNITION: ALIGNING PICTORIAL DESCRIPTIONS Shimon Ullman...within the Artificial Intelligence Laboratory at the Massachusetts Institute of Technology. Support for the A.I. Laboratory’s artificial intelligence

[Dyschromatopsias and pictorial art].

Science.gov (United States)

Lanthony, P

1991-01-01

The influence of color vision defects on pictorial art was studied using three methods. 1) From a theoretical standpoint, the possibilities of choice of the color-blind painter are determined by the nature of his color perception. Characteristic errors result from the fact that he has to choose between many hues which are different to a normal individual but which all look the same to him. 2) Evaluation of the clinical cases of painters with dyschromatopsias has shown evidence of the following: a) the color-blind painter makes mistakes according to the type of color defect; b) if the color-blind painter makes several copies of the same model, he makes different mistakes at each attempt; c) when several color-blind painters make copies of the same model, they also make different mistakes, even when they suffer from the same type of color vision defect. Preferences for some colored patterns were studied by means of a forced choice procedure and choices of color-blind individuals were often characteristic of their dyschromatopsia. Recent clinical case of acquired dyschromatopsia reported in the literature are discussed, as is a personal case of a painter suffering from tapeto-retinal degeneration. This was a severe dyschromatopsia with a neutral zone in purple (so-called scotpic axis, by Verriest's terminology). The painting of this artist tended to be monochromatic, mainly in green and green-blue colors. 3) Recent studies in art history have shown that only the romantic etcher Meryon was definitively color deficient. The more dubious cases of the Polish painter Grottger and of Eugène Carrière are discussed and conclusions are negative. Among acquired dyschromatopsias, there have been many recent papers devoted to cataract dyschromatopsias, concerning the cases of Rouault, Monet and Mary Cassatt. The hypothesis of a degree of chromatopsia or dyschromatopsia of toxic origin in the case of Van Gogh is also assessed. In conclusion, the problem of the relations between

The Interaction of Color Realism and Pictorial Recall Memory.

Science.gov (United States)

Berry, Louis H.

This study investigated the interaction of variations in color realism on pictorial recall memory in order to better understand the effects of variations in color realism, and to draw comparisons between visual recall memory and visual recognition memory in terms of color information processing. Stimulus materials used were three sets of slides,…

Unconscious learning processes: mental integration of verbal and pictorial instructional materials.

Science.gov (United States)

Kuldas, Seffetullah; Ismail, Hairul Nizam; Hashim, Shahabuddin; Bakar, Zainudin Abu

2013-12-01

This review aims to provide an insight into human learning processes by examining the role of cognitive and emotional unconscious processing in mentally integrating visual and verbal instructional materials. Reviewed literature shows that conscious mental integration does not happen all the time, nor does it necessarily result in optimal learning. Students of all ages and levels of experience cannot always have conscious awareness, control, and the intention to learn or promptly and continually organize perceptual, cognitive, and emotional processes of learning. This review suggests considering the role of unconscious learning processes to enhance the understanding of how students form or activate mental associations between verbal and pictorial information. The understanding would assist in presenting students with spatially-integrated verbal and pictorial instructional materials as a way of facilitating mental integration and improving teaching and learning performance.

Pitfalls in CT diagnosis of appendicitis: pictorial essay

International Nuclear Information System (INIS)

Shademan, Ashkan; Tappouni, Rafel F.R.

2013-01-01

Despite the high diagnostic accuracy of CT for appendicitis, numerous pitfalls exist that may result in a misdiagnosis. This pictorial review outlines the potential pitfalls in the CT diagnosis of appendicitis that includes atypical position of the appendix and coexisting pathologies. Various mimickers of appendicitis and clinical dilemmas will be highlighted. Upon completion, the reviewer should have an improved ability to recognise appendicitis mimickers and identify equivocal or atypical findings.

Diogene pictorial drift chamber

International Nuclear Information System (INIS)

Gosset, J.

1984-01-01

A pictorial drift chamber, called DIOGENE, has been installed at Saturne in order to study central collisions of high energy heavy ions. It has been adapted from the JADE internal detector, with two major differences to be taken into account. First, the center-of-mass of these collisions is not identical to the laboratory reference frame. Second, the energy loss and the momentum ranges of the particles to be detected are different from the ones in JADE. It was also tried to keep the cost as small as possible, hence the choice of minimum size and minimum number of sensitive wires. Moreover the wire planes are shifted from the beam axis: this trick helps very much to quickly reject the bad tracks caused by the ambiguity of measuring drift distances (positive or negative) through times (always positive)

Perceived effectiveness of pictorial health warnings among Mexican youth and adults: a population-level intervention to reduce tobacco related inequities

Science.gov (United States)

Hammond, David; Thrasher, James; Reid, Jessica L.; Driezen, Pete; Boudreau, Christian; Santillan, Edna Arillo

2015-01-01

Purpose Pictorial health warnings on cigarette packages are a prominent and effective means of communicating the risks of smoking; however, there is little research on effective types of message content and socio-demographic effects. This study tested message themes and content of pictorial warnings in Mexico. Methods Face-to-face surveys were conducted with 544 adult smokers and 528 youth in Mexico City. Participants were randomized to view 5–7 warnings for two of 15 different health effects. Warnings for each health effect included a text-only warning and pictorial warnings with various themes: “graphic” health effects, “lived experience”, symbolic images, and testimonials. Results Pictorial health warnings were rated as more effective than text-only warnings. Pictorial warnings featuring “graphic” depictions of disease were significantly more effective than symbolic images or experiences of human suffering. Adding testimonial information to warnings increased perceived effectiveness. Adults who were female, older, had lower education, and intended to quit smoking rated warnings as more effective, although the magnitude of these differences was modest. Few interactions were observed between socio-demographics and message theme. Conclusions Graphic depictions of disease were perceived by youth and adults as the most effective warning theme. Perceptions of warnings were generally similar across socio-demographic groups. PMID:22362058

PICTORIAL ESSAY Bamboo spine – X-ray findings of ankylosing ...

African Journals Online (AJOL)

Pathology and imaging characteris- tics. In this pictorial essay, we focus on the characteristic axial skeleton imaging findings of AS, as it presents on conventional X-ray:1. • florid anterior spondylitis (Romanus lesions). • florid diskitis (Andersson lesions). Ankylosing spondylitis is a debilitating disease that is one of the sero-.

Rhombencephalitis: pictorial essay

Directory of Open Access Journals (Sweden)

Líllian Gonçalves Campos

Full Text Available Abstract The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum. Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus Listeria is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with Listeria spp. occurs in healthy young adults. It usually has a biphasic time course with a flu-like syndrome, followed by brainstem dysfunction; 75% of patients have cerebrospinal fluid pleocytosis, and nearly 100% have an abnormal brain magnetic resonance imaging scan. However, other possible causes of rhombencephalitis must be borne in mind. In addition to the clinical aspects, the patterns seen in magnetic resonance imaging can be helpful in defining the possible cause. Some of the reported causes of rhombencephalitis are potentially severe and life threatening; therefore, an accurate initial diagnostic approach is important to establishing a proper early treatment regimen. This pictorial essay reviews the various causes of rhombencephalitis and the corresponding magnetic resonance imaging findings, by describing illustrative confirmed cases.

The Influence of Emotional State and Pictorial Cues on Perceptual Judgments

Energy Technology Data Exchange (ETDEWEB)

Kimberly R. Raddatz; Abigail Werth; Tuan Q. Tran

2007-10-01

Perspective displays (e.g., CDTI) are commonly used as decision aids in environments characterized by periods of high emotional arousal (e.g., terrain enhanced primary flight displays). However, little attention has been devoted to understanding how emotional state, independently or in conjunction with other perceptual factors (e.g., pictorial depth cues), can impact perceptual judgments. Preliminary research suggests that induced emotional state (positive or negative) adversely impacts size comparisons in perspective displays (Tran & Raddatz, 2006). This study further investigated how size comparisons are affected by emotional state and pictorial depth cues while attenuating the limitations of the Tran & Raddatz (2006) study. Results confirmed that observers do make slower judgments under induced emotional state. However, observers under negative emotional state showed higher sensitivity (d’) and required more evidence to respond that a size difference exists (response bias) than observers under positive emotional state. Implications for display design and human performance are discussed.

PICTORIAL RIDDLE MELALUI PEMBELAJARAN ATTENTION, RELEVANCE, CONFIDENCE, SATISFACTION (ARCS UNTUK MENINGKATKAN KEMAMPUAN PEMECAHAN MASALAH DAN MOTIVASI BERPRESTASI SISWA

Directory of Open Access Journals (Sweden)

Siti Masfuah

2016-08-01

Full Text Available Penelitian ini bertujuan mengetahui penerapan metode pictorial riddle melalui pembelajaran ARCS untuk meningkatkan kemampuan pemecahan masalah dan motivasi berprestasi siswa. Metode pictorial riddle yang digunakan adalah jenis komik sains sederhana yang berisi tentang cerita petualangan yang dihubungkan dengan materi sains. Penelitian ini merupakan penelitian pra eksperimen dengan desain one shot case study karena tidak ada kelas kontrol. Subyek penelitian ini adalah siswa kelas V SD Negeri 4 Rendeng Kudus yang dipilih dengan teknik purposive sampling. Variabel bebas penelitian ini adalah metode pictorial riddle dengan jenis komik sains yang diterapkan pada model pembelajaran ARCS, sedangkan variabel terikatnya adalah kemampuan pemecahan masalah dan motivasi berprestasi siswa. Teknik analisis data yang digunakan adalah uji t satu sampel yang dibandingkan nilai KKM. Berdasarkan analisis data diketahui bahwa rata-rata kemampuan pemecahan masalah siswa sebesar 82,75, sedangkan rata-rata motivasi berprestasi siswa sebesar 80,31. Berdasarkan pengujian hipotesis, rata-rata kemampuan pemecahan masalah dan motivasi berprestasi siswa kelas V SD Negeri 4 Rendeng lebih dari atau sama dengan 75. Dengan demikian, dapat disimpulkan bahwa metode pictorial riddle melalui pembelajaran ARCS dapat meningkatkan kemampuan pemecahan masalah dan motivasi berprestasi siswa.

Document image database indexing with pictorial dictionary

Science.gov (United States)

Akbari, Mohammad; Azimi, Reza

2010-02-01

In this paper we introduce a new approach for information retrieval from Persian document image database without using Optical Character Recognition (OCR).At first an attribute called subword upper contour label is defined then, a pictorial dictionary is constructed based on this attribute for the subwords. By this approach we address two issues in document image retrieval: keyword spotting and retrieval according to the document similarities. The proposed methods have been evaluated on a Persian document image database. The results have proved the ability of this approach in document image information retrieval.

Pneumothorax, pneumomediastinum and pneumopericardium: a pictorial review

International Nuclear Information System (INIS)

Jeon, Kyung Nyeo; Bae, Kyung Soo; Yoo, Jin Jong; Jung, Sung Hoon; Kang, Duk Sik

2004-01-01

Pneumothorax, pneumomediastinum and pneumopericardium usually develop during emergency situations and these conditions may result in cardiopulmonary compromise, so an early and accurate diagnosis is seen as crucial for proper treatment. For diagnosis of pneumothorax, pneumomediastinum and pneumopericardium, chest radiography is a primary modality and CT can help for diagnosing them earlier and detecting associated abnormalities. The purpose of this pictorial essay is to describe the pathophysiology, various radiographic signs and diagnostic pitfalls of pneumothorax, pneumomediastinum and peumopericardium on chest radiographs that are correlated with CTs, and to aid the physician in the radiographic diagnosis

Mass outflow in the nearby proto-planetary system, Beta Pictoris

International Nuclear Information System (INIS)

Bruhweiler, F.C.; Grady, C.A.; Kondo, Yoji

1991-01-01

Previous spectral studies of circumstallar dust around the nearby, candidate proto-planetary system, Beta Pictoris, has detected only infalling gas. The lack of detectable mass outflow has been critical in the interpretation of the origin of the circumstellar gas and in our understanding of the evolutionary status of the Beta Pictoris system. IUE high-dispersion spectra are presented which show, in addition to infall, the presence of mass outflow, with a maximum observed outflow velocity of -60 km/s, and a corresponding instantaneous outflow rate of 1.1 x 10 to the -14th solar mass/yr, or 1.1 x 10 to the -11th Jupiter mass/yr. This mass outflow rate and terminal velocity are comparable to the magnitudes of mass infall rates and terminal velocities observed from late 1986 through early 1988. The implications of these observations on our understanding of the mechanisms producing infall from the surrounding circumstellar disk are discussed, as are the implications for our understanding of the evolutionary status of the Beta Pic system. 23 refs

Promoting science communication skills in the form of oral presentation through pictorial analogy

Science.gov (United States)

Purnomo, A. R.; Fauziah, A. N. M.

2018-04-01

Prospective biology teachers are demanded to have skills in communicating science in the form of oral presentation when someday they teach. However, over-expectation towards biological concept comprehension has led them to lower their participation in class. In such a case, rote learning is standing still to support biological content knowledge delivery in university level and thus impoverish the potential of them due to its excessive practice. This study then comes to explore the significant improvement over the use of pictorial analogy to promote university students’ skills in science oral communication towards the nervous system topic. Case study has been a design for the study. It involved two group of different students who participate in natural setting of human anatomy and physiology course. The data was gathered by observation and analyzed in descriptive manner. Quantitative and qualitative data are mixed up altogether to describe the reality behind learning process. The result showed that although both high and low achieving students are successful to communicate science concepts through pictorial analogy they are different in the way they accomodate what they want to explain. High achieving students outperform low achieving students in all aspects of oral presentation. They also employ more complex sources to draw the target concepts. To sum up, pictorial analogy can be used as a tool for students to do science communication skill in the form of oral presentation.

[Written and pictorial content in magazines and their possible relationship to eating disorders].

Science.gov (United States)

Szabó, Kornélia; Túry, Ferenc

2012-02-01

In the current study we reviewed the literature on studies exploring the magazine reading frequency, written and pictorial contents appearing in magazines and their connection to eating disorders. Reading different fashion and fitness magazines has effect on readers through several indirect and direct factors and through trustable and false information. They affect readers' body satisfaction, self-esteem, eating habits and more generally their health behavior. Different theories have been explained to account for these associations and several other studies examined empirically the connection between the frequency of magazine reading and eating disorders, as well as the symptoms leading to eating disorders. We analyzed and summarized articles between 1975 and 2009 from online databases. We used the following sources: Science Direct (http://www.sciencedirect.com/), Springer-Verlag GmbH (http://www.springerlink.com/) and SAGE Publications Ltd (http://online.sagepub. com/). The pictorial and written magazine contents were associated with the development and maintenance of eating disorders or with symptoms that might lead to eating disorders. The publications compared to previous years featured an increased number of advertisements for unhealthy foods, for unhealthy radical diet plans and exercise programs. Furthermore the magazines contained conflicting messages about nutrition, body functions and eating disorders. Written and pictorial magazine contents, messages might increase the risk for development of eating disorders, especially in vulnerable individuals.

The combined influence of binocular disparity and shading on pictorial shape

NARCIS (Netherlands)

Doorschot, P. C A; Kappers, A. M L; Koenderink, Jan J.

The combined influence of binocular disparity and shading on pictorial shape was studied. Stimuli were several pairs of stereo photographs of real objects. The stereo base was 0, 7, or 14 cm, and the location of the light source was varied over three positions (one from about the viewpoint of the

Cognitive Differences in Pictorial Reasoning between High-Functioning Autism and Asperger's Syndrome

Science.gov (United States)

Sahyoun, Cherif P.; Soulieres, Isabelle; Belliveau, John W.; Mottron, Laurent; Mody, Maria

2009-01-01

We investigated linguistic and visuospatial processing during pictorial reasoning in high-functioning autism (HFA), Asperger's syndrome (ASP), and age and IQ-matched typically developing participants (CTRL), using three conditions designed to differentially engage linguistic mediation or visuospatial processing (visuospatial, V; semantic, S;…

Emotion understanding, pictorial representations of friendship and reciprocity in school-aged children.

Science.gov (United States)

Laghi, Fiorenzo; Baiocco, Roberto; Di Norcia, Anna; Cannoni, Eleonora; Baumgartner, Emma; Bombi, Anna Silvia

2014-01-01

This study examined the relationship between emotional understanding, friendship representation and reciprocity in school-aged children. Two hundred and fifty-one Caucasian 6-year-old children (111 males and 140 females) took part in the study. The Test of Emotion Comprehension (TEC) and the Pictorial Assessment of Interpersonal Relationships (PAIR) were used. Children having a reciprocal friendship and children having a unilateral friendship with a child named as their "best friend" were compared on the emotional understanding task and on their pictorial representations of friendship. Multilevel analyses indicated that friendship status effects were not influenced by classroom-level differences. Results showed that children with reciprocal friendships drew themselves as more similar to and more cohesive with their best friends, and they showed better understanding of emotions, than children having a unilateral friendship. Finally, the implications of these findings for theoretical and empirical research development on friendship are discussed.

Perceptions and acceptability of pictorial health warning labels vs text only--a cross-sectional study in Lao PDR.

Science.gov (United States)

Sychareun, Vanphanom; Hansana, Visanou; Phengsavanh, Alongkone; Chaleunvong, Kongmany; Tomson, Tanja

2015-10-28

In Lao PDR, health warnings were first introduced with printed warning messages on the side of the cigarette package in 1993 and again in 2004. Lao PDR same year ratified the Framework Convention on Tobacco Control (WHO FCTC) but has not yet implemented pictorial health warnings. This paper aims to examine the perception and opinion of policymakers on "text-only" and "pictorial" health warnings and to understand lay people's perceptions on current health warnings and their opinions on the recommended types of health warnings. A combination of quantitative and qualitative methods were used in this cross-sectional study conducted in 2008. A purposive sample of 15 policymakers, and a representative sample of 1360 smokers and non-smokers were recruited. A range of different areas were covered including consumer attitudes towards current and proposed cigarette package design, views on health warning messages on the flip/slide and inserts, and views on the relative importance of the size, content and pictures of health warning messages. Descriptive statistics and content analysis were used. Policy makers and survey respondents said that the current health warning messages were inappropriate, ineffective, and too small in size. All respondents perceived pictorial health warnings as a potentially powerful element that could be added to the messages that can communicate quickly, and dramatically. The majority of policymakers and survey respondents strongly supported the implementation of pictorial health warnings. The non-smokers agreed that the graphic pictorial health warnings were generally more likely than written health warnings to stimulate thinking about the health risks of smoking, by conveying potential health effects, increasing and reinforcing awareness of the negative health effect of smoking, aiding memorability of the health effects and arousing fear of smoking among smokers. The study suggested that current warnings are too small and that content is

Holographic representation of space-variant systems: system theory.

Science.gov (United States)

Marks Ii, R J; Krile, T F

1976-09-01

System theory for holographic representation of linear space-variant systems is derived. The utility of the resulting piecewise isoplanatic approximation (PIA) is illustrated by example application to the invariant system, ideal magnifier, and Fourier transformer. A method previously employed to holographically represent a space-variant system, the discrete approximation, is shown to be a special case of the PIA.

Variant Review with the Integrative Genomics Viewer.

Science.gov (United States)

Robinson, James T; Thorvaldsdóttir, Helga; Wenger, Aaron M; Zehir, Ahmet; Mesirov, Jill P

2017-11-01

Manual review of aligned reads for confirmation and interpretation of variant calls is an important step in many variant calling pipelines for next-generation sequencing (NGS) data. Visual inspection can greatly increase the confidence in calls, reduce the risk of false positives, and help characterize complex events. The Integrative Genomics Viewer (IGV) was one of the first tools to provide NGS data visualization, and it currently provides a rich set of tools for inspection, validation, and interpretation of NGS datasets, as well as other types of genomic data. Here, we present a short overview of IGV's variant review features for both single-nucleotide variants and structural variants, with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org Cancer Res; 77(21); e31-34. ©2017 AACR . ©2017 American Association for Cancer Research.

The Pictorial Scale of Perceived Competence and Social Acceptance for Young Children.

Science.gov (United States)

Harter, Susan; Pike, Robin

1984-01-01

Describes two versions of a new pictorial scale of perceived competence and social acceptance, a downward extension of the Perceived Competence Scale for Children. Both versions, one for preschoolers/kindergarteners and one for first/second graders, tap four domains: cognitive competence, physical competence, peer acceptance, and maternal…

Pictorial materials database: 1200 combinations of pigments, dyes, binders and varnishes designed as a tool for heritage science and conservation

Science.gov (United States)

Cavaleri, Tiziana; Buscaglia, Paola; Migliorini, Simonetta; Nervo, Marco; Piccablotto, Gabriele; Piccirillo, Anna; Pisani, Marco; Puglisi, Davide; Vaudan, Dario; Zucco, Massimo

2017-06-01

The conservation of artworks requires a profound knowledge about pictorial materials, their chemical and physical properties and their interaction and/or degradation processes. For this reason, pictorial materials databases are widely used to study and investigate cultural heritage. At Centre for Conservation and Restoration La Venaria Reale, we prepared a set of about 1200 mock-ups with 173 different pigments and/or dyes, used across all the historical times or as products for conservation, four binders, two varnishes and four different materials for underdrawings. In collaboration with the Laboratorio Analisi Scientifiche of Regione Autonoma Valle d'Aosta, the National Institute of Metrological Research and the Department of Architecture and Design of the Polytechnic of Turin, we created a scientific database that is now available online (http://www.centrorestaurovenaria.it/en/areas/diagnostic/pictorial-materials-database) designed as a tool for heritage science and conservation. Here, we present a focus on materials for pictorial retouching where the hyperspectral imaging application, conducted with a prototype of new technology, allowed to provide a list of pigments that could be more suitable for conservation treatments and pictorial retouching. Then we present the case study of the industrial painting Notte Barbara (1962) by Pinot Gallizio where the use of the database including modern and contemporary art materials showed to be very useful and where the fibre optics reflectance spectroscopy technique was decisive for pigment identification purpose. Later in this research, the mock-ups will be exploited to study degradation processes, e.g., the lightfastness, or the possible formation of interaction products, e.g., metal carboxylates.

The impacts of cigarette packaging pictorial warning labels on smokers in the city of tehran.

Science.gov (United States)

Heydari, Gholam Reza; Ramezankhani, Ali; Talischi, Firoozeh

2011-01-01

Cigarette smoking is considered the first preventable cause of death in the world. Social, familial, and personal factors play an important role in prevention or cessation of smoking. Educating the public in order to enhance their knowledge, change their attitude and improve their habits is also effective in this respect. In 2007, the executive protocol of the Comprehensive Law on Smoking Control was compiled in the Ministry of Health and according to the Article 5 of this law pictorial health warning labels had to be applied on cigarette packaging. This study was designed and conducted in 2 phases of before and 9 months after the implementation of this law and evaluated the effect of it on smokers' knowledge, attitude and pattern of smoking. This was a cross-sectional descriptive study conducted to evaluate the effect of cigarette packs' pictorial health warning labels on the knowledge, attitude and smoking pattern of smokers residing in Tehran. After calculating the size of understudy population and estimation of the exclusions, 1731 subjects were randomly selected using the multiphase cluster method from the 22 districts of Tehran. Data were collected using a questionnaire designed according to the standard questionnaire of the World Health Organization (WHO) and International Union Against Tuberculosis and Lung Disease (IUATLD). Qualitative and quantitative value and reliability of the variables including cigarette consumption, knowledge about the law, and pattern of smoking were evaluated in 2 phases and the quality of pictures and their effects on the mentioned variables were assessed in the 2(nd) phase. Before adopting the pictorial warning labels in the first phase of the study, 1731 respondents were evaluated out of which 71.8% were males and 28.2% were females. These cases had an average of 17.6±12.3 years history of smoking. A total of 38% (675 subjects) used Iranian cigarette brands and 39.5% were aware of the implementation of pictorial health warning

Reduced effects of pictorial distinctiveness on false memory following dynamic visual noise.

Science.gov (United States)

Parker, Andrew; Kember, Timothy; Dagnall, Neil

2017-07-01

High levels of false recognition for non-presented items typically occur following exposure to lists of associated words. These false recognition effects can be reduced by making the studied items more distinctive by the presentation of pictures during encoding. One explanation of this is that during recognition, participants expect or attempt to retrieve distinctive pictorial information in order to evaluate the study status of the test item. If this involves the retrieval and use of visual imagery, then interfering with imagery processing should reduce the effectiveness of pictorial information in false memory reduction. In the current experiment, visual-imagery processing was disrupted at retrieval by the use of dynamic visual noise (DVN). It was found that effects of DVN dissociated true from false memory. Memory for studied words was not influenced by the presence of an interfering noise field. However, false memory was increased and the effects of picture-induced distinctiveness was eliminated. DVN also increased false recollection and remember responses to unstudied items.

Unusual lesions that distend the knee joint: pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Lima, Luana T. Barros de, E-mail: luanatbl@hotmail.com [Universidade Federal de Alagoas (HUPAA/UFAL), Maceio (Brazil). Hospital Universitario; Albuquerque Filho, Eolo Santana de; Batista, Laecio Leitao [Universidade Federal de Pernambuco (UFPE), Recife (Brazil). Hospital das Clinicas; Moraes, Talita Peixoto de [Clinica Derbimagem, Recife, PE (Brazil); Pereira, Bruno Perez Guedes [Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Recife, PE (Brazil)

2016-09-15

The high number of knee imaging exams at radiology clinics, together with the wide variety of knee disorders, calls for expanding the knowledge about the less common lesions seen in routine diagnostic practice. The purpose of this pictorial essay was to illustrate unusual lesions that distend the knee joint, selected by relevance and evaluated with multiple imaging modalities, including X-ray, computed tomography, and magnetic resonance imaging, as well as to perform a brief review of the literature. (author)

The Wood and Bark of Hardwoods Growing on Southern Pine Sites - A Pictorial Atlas

Science.gov (United States)

Charles W. McMillin; Floyd G. Manwiller

1980-01-01

Provides a pictorial description of the structure and appearance of 23 pine-site hardwoods, an overview of hardwood anatomy, and data on the resource and certain important physical properties of stemwood and bark.

Selective processing of linguistic and pictorial food stimuli in females with anorexia and bulimia nervosa.

Science.gov (United States)

Stormark, Kjell Morten; Torkildsen, Øivind

2004-01-01

This study investigated subjects with eating disorders' selective attention to linguistic and pictorial representations of food stimuli in a version of the Stroop color-naming task. If subjects with eating disorders' attention really are biased by food stimuli, one would expect equally delayed color-naming latencies to food pictures as previous studies have found to food words. Twenty females with eating disorders (anorexia nervosa, bulimia nervosa, or a combination of both) and 24 female controls identified the color of Stroop versions of linguistic and pictorial representations of color, food, emotional, and neutral stimuli. The eating disorder group was slower than the controls in identifying the color of all words (including the food words) and the pictures depicting food stimuli (but not any of the other pictures). The eating disorder group was also slower in identifying the color of both food and emotional than neutral stimuli, both for the linguistic and pictorial stimuli. These findings indicate that females with bulimia and anorexia nervosa's biased attention to food stimuli are not restricted to linguistic representations. The delayed responses to the emotional words and pictures suggest that processing of negative emotional stimuli, in addition to dysfunctional concerns about stimuli related to food and eating, is important in the maintenance of eating disorders.

The Effect of a Written and Pictorial Home Exercise Prescription on Adherence for People with Stroke

Directory of Open Access Journals (Sweden)

Sheetal Kara

2015-12-01

Conclusion: The addition of a written and pictorial home exercise prescription does not lead to better adherence to a home exercise programme compared to having no written and pictorial instructions. Possible reasons may be that patients had caregivers as a support system, and the exercise logbook served as a reminder and motivational track record for patients. There also does not appear to be a relationship between functional ability and level of adherence, which may be due to most of the study participants being within the optimal time frame for spontaneous functional recovery. Further study at different time frames in stroke rehabilitation in different contexts is recommended.

The Effects of Pictorial Complexity and Cognitive Style on Visual Recall Memory.

Science.gov (United States)

Jesky, Romaine R.; Berry, Louis H.

The effect of the interaction between cognitive style differences (field dependence/field independence) and various degrees of visual complexity on pictorial recall memory was explored using three sets of visuals in three different formats--line drawing, black and white, and color. The subjects were 86 undergraduate students enrolled in two core…

Pick-a-mood; development and application of a pictorial mood-reporting instrument

NARCIS (Netherlands)

Desmet, P.M.A.; Vastenburg, M.H.; Van Bel, D.; Romero Herrera, N.A.

2012-01-01

This paper presents ‘Pick-A-Mood’ (PAM), a cartoon-based pictorial instrument for reporting and expressing moods. The use of cartoon characters enables people to unambiguously and visually express or report their mood in a rich and easy-to-use way. PAM consists of three characters that each express

Pictorial AR Tag with Hidden Multi-Level Bar-Code and Its Potential Applications

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Huy Le

2017-09-01

Full Text Available For decades, researchers have been trying to create intuitive virtual environments by blending reality and virtual reality, thus enabling general users to interact with the digital domain as easily as with the real world. The result is “augmented reality” (AR. AR seamlessly superimposes virtual objects on to a real environment in three dimensions (3D and in real time. One of the most important parts that helps close the gap between virtuality and reality is the marker used in the AR system. While pictorial marker and bar-code marker are the two most commonly used marker types in the market, they have some disadvantages in visual and processing performance. In this paper, we present a novelty method that combines the bar-code with the original feature of a colour picture (e.g., photos, trading cards, advertisement’s figure. Our method decorates on top of the original pictorial images additional features with a single stereogram image that optically conceals a multi-level (3D bar-code. Thus, it has a larger capability of storing data compared to the general 1D barcode. This new type of marker has the potential of addressing the issues that the current types of marker are facing. It not only keeps the original information of the picture but also contains encoded numeric information. In our limited evaluation, this pictorial bar-code shows a relatively robust performance under various conditions and scaling; thus, it provides a promising AR approach to be used in many applications such as trading card games, educations, and advertisements.

Pictorial binding: endeavor to classify

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Zinchenko S.

2015-01-01

Full Text Available The article is devoted to the classification of bindings of the 1-19th centuries with a unique and untypical book binding decoration technique (encaustic, tempera and oil paintings. Analysis of design features, materials and techniques of art decoration made it possible to identify them as a separate type - pictorial bindings and divide them into four groups. The first group consists of Coptic bindings, decorated with icon-painting images in encaustic technique. The second group is made up of leather Western bindings of the 13-14th centuries, which have the decoration and technique of ornamentation close to iconography. The third group involves parchment bindings, ornamentation technique of which is closer to the miniature. The last group comprises bindings of East Slavic origin of the 15-19th centuries, decorated with icon-painting pictures made in the technique of tempera or oil painting. The proposed classification requires further basic research as several specific kinds of bindings have not yet been investigated

The origin of the pictorial krater from the 'Mycenaean' tomb at Tel Dan

International Nuclear Information System (INIS)

Yellin, J.; Maeir, A.

1992-01-01

A Late Bronze Age Mycenaean pictorial krater, decorated with a chariot procession, from tomb 387 at Tel Dan, Israel, was examined by instrumental neutron activation analysis. The origin of the krater is placed in the Argolid, very likely in the region of Mycenae or Berbati. (author)

Veridical and False Pictorial Memory in Individuals with and without Mental Retardation

Science.gov (United States)

Carlin, Michael T.; Toglia, Michael P.; Wakeford, Yvonne; Jakway, Allison; Sullivan, Kate; Hasel, Lisa

2008-01-01

Veridical and false pictorial recognition were assessed in individuals with mental retardation; groups were matched for MA and CA. Pictures were viewed in either a generative or static format at acquisition. The individuals with mental retardation and those in the MA-matched group had higher rates of false memories for critical items and lower hit…

Effects of redundancy in the comparison of speech and pictorial displays in the cockpit environment.

Science.gov (United States)

Byblow, W D

1990-06-01

Synthesised speech and pictorial displays were compared in a spatially compatible simulated cockpit environment. Messages of high or low levels of redundancy were presented to subjects in both modality conditions. Subjects responded to warnings presented in a warning-only condition and in a dual-task condition, in which a simulated flight task was performed with visual and manual input/output modalities. Because the amount of information presented in most real-world applications and experimental paradigms is quantifiably large with respect to present guidelines for the use of synthesised speech warnings, the low-redundancy condition was hypothesised to allow for better performance. Results showed that subjects respond quicker to messages of low redundancy in both modalities. It is suggested that speech messages with low-redundancy levels were effective in minimising message length and ensuring that messages did not overload the short-term memory required to process and maintain speech in memory. Manipulation of phrase structure was used to optimise message redundancy and enhance the conceptual compatibility of the message without increasing message length or imposing a perceptual cost or memory overload. The results also suggest that system response times were quicker when synthesised speech warnings were used. This result is consistent with predictions from multiple resource theory which states that the resources required for the perception of verbal warnings are different from those for the flight task. It is also suggested that the perception of a pictorial display requires the same resources used for the perception of the primary flight task. An alternative explanation is that pictorial displays impose a visual scanning cost which is responsible for decreased performance. Based on the findings reported here, it is suggested that speech displays be incorporated in a spatially compatible cockpit environment because they allow equal or better performance when

Do Adults with Mental Retardation Show Pictorial Superiority Effects in Recall and Recognition?

Science.gov (United States)

Cherry, Katie E.; Applegate, Heather; Reese, Celinda M.

2002-01-01

A study examined memory for pictures and words in 16 adults with mental retardation and 24 controls. Pictorial superiority effects occurred in free recall and recognition for both intelligence-level groups. Correlational analyses indicated working memory span was primarily related to recall performance, irrespective of stimulus format. (Contains…

Zero Degree of Representation: Art, Technique and Pictorial Appearing

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Krešimir Purgar

2016-01-01

Full Text Available My starting hypothesis in the theory of pictorial appearing is that Gottfried Boehm’s notion of iconic difference can serve as a sufficiently comprehensive concept for differentiating between image and non-image in all visual artefacts that have been created during the several millennia of visual representation. This era started with the first paleolithic drawings and includes the entire visual production from the period “before art”, as well as all those visual representations that emerged in the early modern period beyond the needs of religious worship, only to be substituted through the technosphere. However, since the technosphere is characterized by increasingly evolved systems of visual immersion, from the all-accessible OLED screen and IMAX cinema theatres to Oculus Rift glasses and further to the experience of total immersion, which recreates synesthetic visual-haptic impressions, ontological differentiation between the visual surface as such and the extra-iconic reality can no longer be established with the idea of difference alone. Namely, the notion of difference can serve as a qualifier for defining the relationship between the separate categories in an object – in our case, the pictorial and non-pictorial ones – only insofar as the reality in which they are situated is identical or equivalent. Thus, nobody questions the clear ontological separation between the two-dimensional represented reality such as established in cinematic fiction and the non-represented, that is actual reality existing outside of that fiction. Many films and artworks count on that implied separation and can therefore afford to question the borderline between the two, primarily within a strictly artistic discourse. Boehm’s theory of iconic difference and Jean-Luc Nancy’s understanding of the cut have helped establish the semiotic-phenomenological criteria for a theoretical differentiation between various experiences that are innate to man�

Measuring Pictorial Balance Perception at First Glance using Japanese Calligraphy

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Sharon Gershoni

2011-08-01

Full Text Available According to art theory, pictorial balance acts to unify picture elements into a cohesive composition. For asymmetrical compositions, balancing elements is thought to be similar to balancing mechanical weights in a framework of symmetry axes. Assessment of preference for balance (APB, based on the symmetry-axes framework suggested in Arnheim R, 1974 Art and Visual Perception: A Psychology of the Creative Eye (Berkeley, CA: University of California Press, successfully matched subject balance ratings of images of geometrical shapes over unlimited viewing time. We now examine pictorial balance perception of Japanese calligraphy during first fixation, isolated from later cognitive processes, comparing APB measures with results from balance-rating and comparison tasks. Results show high between-task correlation, but low correlation with APB. We repeated the rating task, expanding the image set to include five rotations of each image, comparing balance perception of artist and novice participant groups. Rotation has no effect on APB balance computation but dramatically affects balance rating, especially for art experts. We analyze the variety of rotation effects and suggest that, rather than depending on element size and position relative to symmetry axes, first fixation balance processing derives from global processes such as grouping of lines and shapes, object recognition, preference for horizontal and vertical elements, closure, and completion, enhanced by vertical symmetry.

Pictorial instrument of food and nutrition education for promoting healthy eating

OpenAIRE

MICALI,Flávia Gonçalves; DIEZ-GARCIA,Rosa Wanda

2016-01-01

ABSTRACT To trace the course of building a pictorial instrument that explores semiotic resources about food and nutrition education. The instrument is directed at the treatment and prevention of obesity, considering the food and nutrition problems of the Brazilian population. The criteria for photo production were: images that could cause visual impact and transmit applied nutrition information, insinuating positive and negative eating practices for promoting healthy eating, and preventing an...

A Novel Approach in Facilitating Aviation Emergency Procedure Learning and Recall through an Intuitive Pictorial System

National Research Council Canada - National Science Library

Estrada, Arthur; Keeley, Jennifer A; LeDuc, Patricia A; Bass, Julie M; Rouse, Tiffany N; Ramiccio, John G; Rowe, Terri L

2007-01-01

...: the Intuitive Pictorial System (IPS). Descriptive and inferential statistics, along with correlation, were used to assess the study data, which determined statistically significant differences between the IPS and traditional training methods...

The lower effectiveness of text-only health warnings in China compared to pictorial health warnings in Malaysia.

Science.gov (United States)

Elton-Marshall, Tara; Xu, Steve Shaowei; Meng, Gang; Quah, Anne C K; Sansone, Genevieve C; Feng, Guoze; Jiang, Yuan; Driezen, Pete; Omar, Maizurah; Awang, Rahmat; Fong, Geoffrey T

2015-11-01

In 2009, China changed its health warnings on cigarette packs from side-only text warnings to two text-only warnings on 30% of the bottom of the front and back of the pack. Also in 2009, Malaysia changed from similar text warnings to pictorial health warnings consistent with Framework Convention on Tobacco Control (FCTC) Article 11 Guidelines. To measure the impact of the change in health warnings in China and to compare the text-only health warnings to the impact of the pictorial health warnings introduced in Malaysia. We measured changes in key indicators of warning effectiveness among a longitudinal cohort sample of smokers from Waves 1 to 3 (2006-2009) of the International Tobacco Control (ITC) China Survey and from Waves 3 to 4 (2008-2009) of the ITC Malaysia Survey. Each cohort consisted of representative samples of adult (≥18 years) smokers from six cities in China (n=6575) and from a national sample in Malaysia (n=2883). Generalised Estimating Equations (GEE) were used to examine the impact of the health warnings on subsequent changes in salience of warnings, cognitive and behavioural outcomes. Compared to Malaysia, the weak text-only warning labels in China led to a significant change in only two of six key indicators of health warning effectiveness: forgoing cigarettes and reading the warning labels. The change to pictorial health warnings in Malaysia led to significant and substantial increases in five of six indicators (noticing, reading, forgoing, avoiding, thinking about quitting). The delay in implementing pictorial health warnings in China constitutes a lost opportunity for increasing knowledge and awareness of the harms of cigarettes, and for motivating smokers to quit. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Persuading Iranian Women toward Normal Vaginal Delivery: Using Pictorial Perception of the Labour Process

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Safieh Kananikandeh

2018-06-01

CONCLUSION: Pictorial education could be effective on the intention of women to choose natural vaginal delivery among pregnant women, and it can be used as an effective training technique for developing health literacy, enhancing self-efficacy and decision-making power of women in the delivery.

The Pictorial Fire Stroop: A Measure of Processing Bias for Fire-Related Stimuli

Science.gov (United States)

Gallagher-Duffy, Joanne; MacKay, Sherri; Duffy, Jim; Sullivan-Thomas, Meara; Peterson-Badali, Michele

2009-01-01

Fire interest is a risk factor for firesetting. This study tested whether a fire-specific emotional Stroop task can effectively measure an information-processing bias for fire-related stimuli. Clinic-referred and nonreferred adolescents (aged 13-16 years) completed a pictorial "Fire Stroop," as well as a self-report fire interest questionnaire and…

Pictorial review: Electron beam computed tomography and multislice spiral computed tomography for cardiac imaging

International Nuclear Information System (INIS)

Lembcke, Alexander; Hein, Patrick A.; Dohmen, Pascal M.; Klessen, Christian; Wiese, Till H.; Hoffmann, Udo; Hamm, Bernd; Enzweiler, Christian N.H.

2006-01-01

Electron beam computed tomography (EBCT) revolutionized cardiac imaging by combining a constant high temporal resolution with prospective ECG triggering. For years, EBCT was the primary technique for some non-invasive diagnostic cardiac procedures such as calcium scoring and non-invasive angiography of the coronary arteries. Multislice spiral computed tomography (MSCT) on the other hand significantly advanced cardiac imaging through high volume coverage, improved spatial resolution and retrospective ECG gating. This pictorial review will illustrate the basic differences between both modalities with special emphasis to their image quality. Several experimental and clinical examples demonstrate the strengths and limitations of both imaging modalities in an intraindividual comparison for a broad range of diagnostic applications such as coronary artery calcium scoring, coronary angiography including stent visualization as well as functional assessment of the cardiac ventricles and valves. In general, our examples indicate that EBCT suffers from a number of shortcomings such as limited spatial resolution and a low contrast-to-noise ratio. Thus, EBCT should now only be used in selected cases where a constant high temporal resolution is a crucial issue, such as dynamic (cine) imaging. Due to isotropic submillimeter spatial resolution and retrospective data selection MSCT seems to be the non-invasive method of choice for cardiac imaging in general, and for assessment of the coronary arteries in particular. However, technical developments are still needed to further improve the temporal resolution in MSCT and to reduce the substantial radiation exposure

Hemoglobin Variants: Biochemical Properties and Clinical Correlates

Science.gov (United States)

Thom, Christopher S.; Dickson, Claire F.; Gell, David A.; Weiss, Mitchell J.

2013-01-01

Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant to severe. Studies of these mutations in patients and in the laboratory have produced a wealth of information on hemoglobin biochemistry and biology with significant implications for hematology practice. More generally, landmark studies of hemoglobin performed over the past 60 years have established important paradigms for the disciplines of structural biology, genetics, biochemistry, and medicine. Here we review the major classes of hemoglobin variants, emphasizing general concepts and illustrative examples. PMID:23388674

Developing pictorial asthma action plans to promote self-management and health in rural youth with asthma: A qualitative study.

Science.gov (United States)

Duncan, Christina L; Walker, Heather A; Brabson, Laurel; Williford, Desireé N; Hynes, Lisa; Hogan, Mary Beth

2017-09-21

Asthma action plans (AAPs) provide asthma management instructions to families; however, AAPs typically are written at a 7th-9th grade reading level, making them less useful in lower literacy families. There is a need to develop simpler AAP formats and content to optimize their utility across all families, including those who are rural and may be at a risk for literacy concerns. Because using pictures can simplify and enhance health education, our study's aim was to develop a pictorial AAP through a series of focus groups with key stakeholders - youth with asthma, caregivers, and physicians. Fourteen caregiver/youth dyads and four physicians participated in separate focus groups where their preferences for pictorial AAP structure and content were obtained. Focus groups were audio recorded, transcribed, coded with ATLAS.ti, and analyzed for themes. Youth and their caregivers prefer that the AAPs include simple, cartoon-like pictures customized to the patient. Physicians emphasized AAP's capability to display pictures of controller medication given its importance in preventing asthma exacerbations. A stoplight format, currently used in most written AAPs, received positive reviews. Specific suggestions for pictures showing symptoms, medications, and how to take medication were suggested. Words and short phrases accompanying the pictures were thought to add clarity. Key stakeholders viewed pictorial AAPs as positive and potentially effective alternatives to standard written AAPs. It is expected that low literacy youth and caregivers would more easily understand a pictorial AAP presentation, which should facilitate better medication adherence and asthma outcomes in these children.

Radiology of the nasopharynx: pictorial essay

International Nuclear Information System (INIS)

Chong, V.F.H.; Fan, Y.-F.

2000-01-01

The nasopharynx, located just below the central skull base, is a difficult area to evaluate clinically. Endoscopic examination provides useful information but cannot delineate submucosal disease. Benign lesions of the nasopharynx are relatively uncommon. They include Thornwaldt cyst, juvenile angiofibroma, haemangioma, haemangiopericytoma, Kimura's disease, branchial cleft cyst, oncocytoma, amyloidoma, and non-ossifying fibromyxoid tumours. The most common malignant lesions are carcinomas and lymphomas. Other malignant neoplasms such as adenocystic carcinomas are rarely seen. The purpose of the present pictorial review is to highlight the salient normal anatomy of the nasopharynx and the spectrum of pathological anatomy. Small or superficial lesions are best assessed endoscopically, coupled with biopsy when deemed necessary. It is demonstrated that both computerized tomography and MRI play a central role in the evaluation of lesions involving deeper structures of the nasopharynx, especially when skull base involvement or intracranial extension is suspected. Copyright (1999) Blackwell Science Pty Ltd

Impact of Adding a Pictorial Display to Enhance Recall of Cancer Patient Histories: A Randomized Trial.

Science.gov (United States)

Wolch, Gary; Ghosh, Sunita; Boyington, Curtiss; Watanabe, Sharon M; Fainsinger, Robin; Burton-Macleod, Sarah; Thai, Vincent; Thai, JoAnn; Fassbender, Konrad

2017-01-01

Current health care delivery models have increased the need for safe and concise patient handover. Handover interventions in the literature have focused on the use of structured tools but have not evaluated their ability to facilitate retention of patient information. In this study, mock pictorial displays were generated in an attempt to create a snapshot of each patient's medical and social circumstances. These pictorial displays contained the patient's photograph and other disease- and treatment-related images. The objective of this randomized trial was to assess the ability of these snapshots to enhance delayed information recall by care providers. Participating physicians were given four advanced cancer patient histories to review, two at a time over two weeks. Pictorial image displays, referred to as the Electronic Whiteboard (EWB) were added, in a randomized manner to half of the textual histories. The impact of the EWB on information recall was tested in immediate and delayed time frames. Overall, patient information recall declined significantly over time, with or without the EWB. Still, this trial demonstrates significantly higher test scores after 24 hours with the addition of pictures to textual patient information, compared with textual information alone (P = 0.0002). A more modest improvement was seen with the addition of the EWB for questionnaires administered immediately after history review (P = 0.008). Most participants agreed that the EWB was a useful enhancement and that seeing a patient's photograph improved their ability to retain information. Most studies examining the institution of handover protocols in the health care setting have failed to harness the power of pictures and other representative images. This study demonstrates the ability of pictorial displays to improve both immediate and delayed recall of patient histories without increasing review time. These types of displays may be amenable to generation by software programs and

Aural, visual, and pictorial stimulus formats in false recall.

Science.gov (United States)

Beauchamp, Heather M

2002-12-01

The present investigation is an initial simultaneous examination of the influence of three stimulus formats on false memories. Several pilot tests were conducted to develop new category associate stimulus lists. 73 women and 26 men (M age=21.1 yr.) were in one of three conditions: they either heard words, were shown words, or were shown pictures highly related to critical nonpresented items. As expected, recall of critical nonpresented stimuli was significantly greater for aural lists than for visually presented words and pictorial images. These findings demonstrate that the accuracy of memory is influenced by the format of the information encoded.

Memory for Pictures, Words, and Spatial Location in Older Adults: Evidence for Pictorial Superiority.

Science.gov (United States)

Park, Denise Cortis; And Others

1983-01-01

Tested recognition memory for items and spatial location by varying picture and word stimuli across four slide quadrants. Results showed a pictorial superiority effect for item recognition and a greater ability to remember the spatial location of pictures versus words for both old and young adults (N=95). (WAS)

Cognitive bias in spider-phobic children: Comparison of a pictorial and a linguistic spider Stroop.

NARCIS (Netherlands)

Kindt, M.; Brosschot, J.F.

1999-01-01

Examined the relation between spider fear in children and cognitive processing bias toward threatening information. It was investigated whether spider fear in children is related to a cognitive bias for threatening pictures and words. Pictorial and linguistic Stroop stimuli were administered to 28

HIGHLIGHTS OF THE REPRESENTATION COSTUME IN PICTORIAL ART- BAROQUE STYLE -

Directory of Open Access Journals (Sweden)

URDEA Olimpia

2014-05-01

Full Text Available Throughout the social history of human civilization and art history, the human body was and still is a challenging field to explore in various representations, a material for various manners of cultural interventions. The way of artistically representing the body, the clothed body, has followed the path of various artistic movements that marked art history. In the act of interpersonal perception, the costume establishes itself as a particular field of non-verbal communication, one based on image. The present paper refers to the costume, as a particular vector of non-verbal communication in social space, as it was depicted and perceived in the painting of the 17th century and early 18th century, a time marked by the Baroque style. From this point of view, garment received the value of an intermediary in the communication between bodily space and the social one. In Baroque formal portrait, the garment completes by scale and the rendering technique of the texture and chromatic emphasizes the position of the pictorially represented person. Thus, the garment interferes with the gesture and mimics as forms of interpersonal knowledge. The transmitter – the clothed character represented through the eyes of the painter – is exposed to the perceptions of the others, providing a comprehensive matrix of information integrated in the social context. Pictorial representations are included in the matrix of the means by which the body is exposed by the costume in order to communicate with the social environment

Effectiveness of pictorial health warning on cigarette packages: A cross-sectional study in Sarawak, Malaysia.

Science.gov (United States)

Rahman, M M; Arif, M T; Abd, Razak Mf; Suhaili, M R; Tambi, Z; Akoi, C; Gabriel Bain, M; Hussain, H

2015-01-01

Specific health warning placed on the tobacco product packages is considered as an effective and low-cost method for increasing the knowledge and awareness among the community. Thus, a study was conducted to assess the perception of pictorial health warnings (PHWs) against smoking among the adult rural population of Sarawak. Cross-sectional data were collected from 10 villages in Kota Samarahan and Kuching Division by face to face interview using modified Global Adult Tobacco Survey questionnaire. Nonprobability sampling method was adopted to select the villages. All the households of the selected villages were visited and an adult member was selected randomly from each house irrespective of the sex. After missing value imputation, 1000 data were analysed using statistical software IBM SPSS 20.0 version. Analysis showed that 28.8% of the respondents were current smokers, 7.8% were past smokers and the rest were non-smokers. Six items of pictorial health warnings were evaluated with five point Likert's scales for attractiveness, fearfulness and adequacy of the information. Analysis revealed that the majority of the respondents had perceived awareness on PHWs, but the smokers believed that this was not adequate to make them quit smoking. Only one-fifth (19.7%) of them reported that current pictorial health warnings were sufficient to motivate people to quit smoking. Though the PHWs on cigarette packages are appealing, it is not sufficient as a reason to stop smoking. Thus, an approach using an integrated anti-tobacco public health programme should be focused into the specific targeted community.

Pictorial Memory – Manners of the Individual Identity Construction

Directory of Open Access Journals (Sweden)

Milena Gnjatović

2015-08-01

Full Text Available The title of this study directly refers to the importance of the images, meaning material objects, personal memories or literal images – photographs one elects from the past in order to build up the individual identity and present it to others. Long ago, during the antique age, techniques of the remembrance by using pictorial memory and sequencing images from the past had been created, and those just developed during centuries. The goal of this paper is to stress that, basic concepts of the self representation did not change, but just used different media through time. In the first part of the paper, the difference between terms memory and remembrance, their relation to the culture and reasons why one remembers something will be discussed. As it is tended to be shown, the remembrance is always “pictorial”, one always puts elected images of the past in the exact order and creates its own identity. Therefore, in the second part of this study, the idea of individual identity, creation of it and the representation of the self identity to the others will be examined and explained in the context of the pictorial memory and heritage on the one hand, and social determination on the other. Inspired by the wholes one leaves in its personal life story when presenting it to others, the need of forgetting as constituent part of memory will also be stressed. Finally, the last part of this study points out that we still use the same concepts of remembering, electing and presenting images from the past in the creation of the image of ourselves, using the most popular media today - virtual space.

Psychometric Comparisons of the Pictorial Child Behavior Checklist with the Standard Version of the Instrument

Science.gov (United States)

Leiner, Marie; Rescorla, Leslie; Medina, Irma; Blanc, Oscar; Ortiz, Melchor

2010-01-01

The low level of literacy and lack of language proficiency possessed by some immigrants from low socioeconomic status backgrounds create communication barriers in the healthcare setting, thus interfering with their ability to access appropriate medical care and their subsequent participation in medical research. Adding pictorial descriptions to…

The origin of the pictorial krater from the 'Mycenaean' tomb at Tel Dan

Energy Technology Data Exchange (ETDEWEB)

Yellin, J.; Maeir, A. (Hebrew Univ., Jerusalem (Israel). Inst. of Archaeology)

1992-02-01

A Late Bronze Age Mycenaean pictorial krater, decorated with a chariot procession, from tomb 387 at Tel Dan, Israel, was examined by instrumental neutron activation analysis. The origin of the krater is placed in the Argolid, very likely in the region of Mycenae or Berbati. (author).

Intracranial involvement in plasmacytomas and multiple myeloma: a pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Cerase, Alfonso; Gennari, Paola; Monti, Lucia; Venturi, Carlo [Azienda Ospedaliera Universitaria Senese, Unit of Diagnostic and Therapeutic Neuroradiology, and InterDepartmental Center of Nuclear Magnetic Resonance, Policlinico ' Santa Maria alle Scotte' , Siena (Italy); Tarantino, Annachiara; Muccio, Carmine Franco [Azienda Ospedaliera ' G. Rummo' , Unit of Neuroradiology, Department of Neurosciences, Benevento (Italy); Gozzetti, Alessandro [University of Siena, Unit of Hematology and Transplants, Policlinico ' Santa Maria alle Scotte' , Siena (Italy); Di Blasi, Arturo [Azienda Ospedaliera ' G. Rummo' , Unit of Pathology, Department of Oncology, Benevento (Italy)

2008-08-15

The purpose of this pictorial essay is to increase awareness of the clinical presentation, neuroradiological findings, treatment options, and neuroradiological follow-up of plasmacytomas and multiple myeloma with intracranial growth. This pictorial essay reviews the clinical features and neuroradiological findings in seven patients (four women, three men; age range at diagnosis 62-82 years) followed in two institutions. Six patients, one with IgG-{kappa} plasmacytoma, and five with IgG-{kappa}(n=3), IgG-{lambda}(n=1), and nonsecretory (n=1) multiple myeloma, had been seen over a period of 9 years in one institution, and the other patient with IgG-{kappa} plasmacytoma had been seen over a period of 3.5 years in the other. Intracranial involvement is rare, most frequently resulting from osseous lesions in the cranial vault, skull base, nose, or paranasal sinuses. Primary dural or leptomeningeal involvement is rarer. Some typical findings of a dural and/or osseous plasmacytoma include iso- to hyperdensity on CT scan, T1 equal to high signal intensity and T2 markedly hypointense signal on MRI, and high vascularity possibly documented on intraarterial digital subtraction angiography. However, the neuroradiological findings generally lack specificity, since they are generally no different from those of meningioma, metastasis, lymphoma, dural sarcoma, plasma cell granuloma, infectious meningitis, and leptomeningeal carcinomatosis. The spectrum of clinical and neuroradiological evaluation shows that intracranial involvement from plasmacytoma and multiple myeloma must be taken into account in the differential diagnosis of cranial osseous and meningeal disease. (orig.)

Imaging Findings of Scrotal Tumors in Children: A Pictorial Essay

Energy Technology Data Exchange (ETDEWEB)

Kim, Myung Hee [Kang-Dong Hospital, Busan (Korea, Republic of); Kim, Jee Eun [Gachon University, Gil Hospital, Incheon (Korea, Republic of); Kim, Ji Hye [Sungkyunkwan University, Samsung Medical Center, Changwon (Korea, Republic of); Yang, Dal Mo [Kyung Hee University Hospital at Gangdong, Seoul (Korea, Republic of)

2011-12-15

The diagnosis of scrotal tumors in children can be challenging because of the rarity, vague symptoms, and varied imaging features of the tumors. The pathology and frequency of scrotal tumors that occur in children are different from tumors that arise in adults. In this pictorial essay, we illustrate the imaging findings of scrotal tumors in children with pathological correlations. In addition, we present the clinical manifestations that are valuable for a differential diagnosis. Familiarity with the imaging findings and clinical manifestations of pediatric scrotal tumors may be helpful in making an accurate diagnosis and providing proper patient management

Effectiveness of pictorial health warning on cigarette packages: A cross-sectional study in Sarawak, Malaysia

Directory of Open Access Journals (Sweden)

Md Mizanur Rahman

2015-07-01

Full Text Available Specific health warning placed on the tobacco product packages is considered as an effective and low-cost method for increasing the knowledge and awareness among the community. Thus, a study was conducted to assess the perception of pictorial health warnings (PHWs against smoking among the adult rural population of Sarawak.

A pictorial review of hypovolaemic shock in adults.

LENUS (Irish Health Repository)

Tarrant, A M

2012-02-03

Hypovolaemic shock is an infrequently encountered entity found on CT of victims of severe trauma. Early abdominal and pelvic CT can show diffuse abnormalities owing to hypovolaemia that may alert radiologists to the presence of hypovolaemic shock. In this pictorial review, we present the imaging findings of hypovolaemic shock, as seen on CT of the abdomen. A spectrum of vascular and visceral CT signs is described. Vascular signs include diminished inferior vena cava diameter, diminished aortic diameter and abnormal vascular enhancement. Hollow visceral abnormalities include diffuse increased mucosal enhancement of both the small and large bowel, diffuse thickening of the small bowel wall, and small bowel dilatation. Solid visceral abnormalities include both decreased and increased end organ enhancement. This report should increase radiologists\\' awareness of the CT manifestations of hypovolaemic shock.

Pictorial identification key for species of Sarcophagidae (Diptera of potential forensic importance in southern Brazil

Directory of Open Access Journals (Sweden)

Karine Pinto e Vairo

2011-09-01

Full Text Available Pictorial identification key for species of Sarcophagidae (Diptera of potential forensic importance in southern Brazil. Species of the subfamily Sarcophaginae are important to forensic entomology due to their necrophagous habits. This contribution presents a pictorial key for the identification of 22 Sarcophaginae species in 10 genera that are commonly found in southern Brazil. Photographs of the main structures used in species identification, mainly from the male terminalia, are provided.Chave pictórica para a identificação das espécies de Sarcophagidae (Diptera de potencial importância forense do sul do Brasil. Espécies da subfamília Sarcophaginae são importantes para a entomologia forense devido ao seu hábito necrófago. Este trabalho apresenta uma chave pictórica para a identificação de 22 espécies de Sarcophaginae de 10 gêneros encontradas na região sul do Brasil. São fornecidas fotografias dos principais estruturas das espécies, principalmente da terminália masculina.

The Effectiveness of Electronic Text and Pictorial Graphic Organizers to Improve Comprehension Related to Functional Skills

Science.gov (United States)

Douglas, Karen H.; Ayres, Kevin M.; Langone, John; Bramlett, Virginia Bell

2011-01-01

This study evaluated the effects of a computer-based instructional program to assist three students with mild to moderate intellectual disabilities in using pictorial graphic organizers as aids for increasing comprehension of electronic text-based recipes. Student comprehension of recipes was measured by their ability to verbally retell recipe…

Adult smokers' reactions to pictorial health warning labels on cigarette packs in Thailand and moderating effects of type of cigarette smoked: findings from the international tobacco control southeast Asia survey.

Science.gov (United States)

Yong, Hua-Hie; Fong, Geoffrey T; Driezen, Pete; Borland, Ron; Quah, Anne C K; Sirirassamee, Buppha; Hamann, Stephen; Omar, Maizurah

2013-08-01

In this study, we aimed to examine, in Thailand, the impact on smokers' reported awareness of and their cognitive and behavioral reactions following the change from text-only to pictorial warnings printed on cigarette packs. We also sought to explore differences by type of cigarette smoked (roll-your-own [RYO] vs. factory-made [FM] cigarettes). Data came from the International Tobacco Control Southeast Asia Survey, conducted in Thailand and Malaysia, where a representative sample of 2,000 adult smokers from each country were recruited and followed up. We analyzed data from one wave before (Wave 1) and two waves after the implementation of the new pictorial warnings (two sets introduced at Waves 2 and 3, respectively) in Thailand, with Malaysia, having text-only warnings, serving as a control. Following the warning label change in Thailand, smokers' reported awareness and their cognitive and behavioral reactions increased markedly, with the cognitive and behavioral effects sustained at the next follow-up. By contrast, no significant change was observed in Malaysia over the same period. Compared to smokers who smoke any FM cigarettes, smokers of only RYO cigarettes reported a lower salience but greater cognitive reactions to the new pictorial warnings. The new Thai pictorial health warning labels have led to a greater impact than the text-only warning labels, and refreshing the pictorial images may have helped sustain effects. This finding provides strong support for introducing pictorial warning labels in low- and middle-income countries, where the benefits may be even greater, given the lower literacy rates and generally lower levels of readily available health information on the risks of smoking.

Adult Smokers’ Reactions to Pictorial Health Warning Labels on Cigarette Packs in Thailand and Moderating Effects of Type of Cigarette Smoked: Findings From the International Tobacco Control Southeast Asia Survey

Science.gov (United States)

2013-01-01

Introduction: In this study, we aimed to examine, in Thailand, the impact on smokers’ reported awareness of and their cognitive and behavioral reactions following the change from text-only to pictorial warnings printed on cigarette packs. We also sought to explore differences by type of cigarette smoked (roll-your-own [RYO] vs. factory-made [FM] cigarettes). Methods: Data came from the International Tobacco Control Southeast Asia Survey, conducted in Thailand and Malaysia, where a representative sample of 2,000 adult smokers from each country were recruited and followed up. We analyzed data from one wave before (Wave 1) and two waves after the implementation of the new pictorial warnings (two sets introduced at Waves 2 and 3, respectively) in Thailand, with Malaysia, having text-only warnings, serving as a control. Results: Following the warning label change in Thailand, smokers’ reported awareness and their cognitive and behavioral reactions increased markedly, with the cognitive and behavioral effects sustained at the next follow-up. By contrast, no significant change was observed in Malaysia over the same period. Compared to smokers who smoke any FM cigarettes, smokers of only RYO cigarettes reported a lower salience but greater cognitive reactions to the new pictorial warnings. Conclusions: The new Thai pictorial health warning labels have led to a greater impact than the text-only warning labels, and refreshing the pictorial images may have helped sustain effects. This finding provides strong support for introducing pictorial warning labels in low- and middle-income countries, where the benefits may be even greater, given the lower literacy rates and generally lower levels of readily available health information on the risks of smoking. PMID:23291637

Pictorial communication in virtual and real environments

Science.gov (United States)

Ellis, Stephen R. (Editor)

1991-01-01

Papers about the communication between human users and machines in real and synthetic environments are presented. Individual topics addressed include: pictorial communication, distortions in memory for visual displays, cartography and map displays, efficiency of graphical perception, volumetric visualization of 3D data, spatial displays to increase pilot situational awareness, teleoperation of land vehicles, computer graphics system for visualizing spacecraft in orbit, visual display aid for orbital maneuvering, multiaxis control in telemanipulation and vehicle guidance, visual enhancements in pick-and-place tasks, target axis effects under transformed visual-motor mappings, adapting to variable prismatic displacement. Also discussed are: spatial vision within egocentric and exocentric frames of reference, sensory conflict in motion sickness, interactions of form and orientation, perception of geometrical structure from congruence, prediction of three-dimensionality across continuous surfaces, effects of viewpoint in the virtual space of pictures, visual slant underestimation, spatial constraints of stereopsis in video displays, stereoscopic stance perception, paradoxical monocular stereopsis and perspective vergence. (No individual items are abstracted in this volume)

Razvojni put modne ilustracije 20. i 21. veka – likovno predstavljanje mode (u slikarstvu, modnim tablama i modnim ilustracijama) / Development of Fashion Illustration during the 20th and 21st Century: Pictorial Representation of Fashion (in Painting, Fashion Plates and Fashion Illustrations)

OpenAIRE

Vanja Kosanić

2013-01-01

The theme of this study is pictorial representation of costume and fashion in painting, fashion plates and fashion illustrations. Fashion illustration of the 20th century, specific in terms of freedom of interpretation that is given to the artists when representing fashion trends, has kept those elements of painting that are almost lost in contemporary art movements (for instance figuration). Through several specific examples in art history I will try to demonstrate the artist’s approach to t...

Learning English Idioms through Reading in an LMS: Etymological Notes versus Pictorial Support

OpenAIRE

Demiröz, Hakan; Çekiç, Ahmet; Bakla, Arif

2016-01-01

This study aims to compare the effectiveness of definition + etymological notes versus definition + pictorial support on the learning of English idioms through reading online texts with hyperlinks to definitions. 121 Turkish learners of English as a foreign language assigned to two different courses were given a vocabulary knowledge scale, revealing that the idioms were unfamiliar to the learners. Participants in both groups read 17 passages with definitions as hyperlink annotations for 18 id...

CT and MR imaging of gastrointestinal stromal tumor of stomach: a pictorial review

OpenAIRE

Gong, Jingshan; Kang, Wenyan; Zhu, Jin; Xu, Jianmin

2012-01-01

This pictorial review illustrates CT and MR imaging appearance of gastrointestinal stromal tumor (GIST) of the stomach and other lesions with similar imaging appearance. GIST of the stomach appears as well-defined enhanced masses with characteristics of subeppthial neoplasms. Majority are exophytic growth, but can also be of intra-luminal growth. GIST can growth into a large mass without gastrointestinal tract obstruction. Necrosis is often seen in GIST and results in heterogeneous enhancemen...

Pictorial essay: Role of ultrasound in failed carpal tunnel decompression

Directory of Open Access Journals (Sweden)

Rajesh Botchu

2012-01-01

Full Text Available USG has been used for the diagnosis of carpal tunnel syndrome. Scarring and incomplete decompression are the main causes for persistence or recurrence of symptoms. We performed a retrospective study to assess the role of ultrasound in failed carpal tunnel decompression. Of 422 USG studies of the wrist performed at our center over the last 5 years, 14 were for failed carpal tunnel decompression. Scarring was noted in three patients, incomplete decompression in two patients, synovitis in one patient, and an anomalous muscle belly in one patient. No abnormality was detected in seven patients. We present a pictorial review of USG findings in failed carpal tunnel decompression.

Pictorial essay: Role of ultrasound in failed carpal tunnel decompression.

Science.gov (United States)

Botchu, Rajesh; Khan, Aman; Jeyapalan, Kanagaratnam

2012-01-01

USG has been used for the diagnosis of carpal tunnel syndrome. Scarring and incomplete decompression are the main causes for persistence or recurrence of symptoms. We performed a retrospective study to assess the role of ultrasound in failed carpal tunnel decompression. Of 422 USG studies of the wrist performed at our center over the last 5 years, 14 were for failed carpal tunnel decompression. Scarring was noted in three patients, incomplete decompression in two patients, synovitis in one patient, and an anomalous muscle belly in one patient. No abnormality was detected in seven patients. We present a pictorial review of USG findings in failed carpal tunnel decompression.

Detection of Submillimeter-wave [C i] Emission in Gaseous Debris Disks of 49 Ceti and β Pictoris

Energy Technology Data Exchange (ETDEWEB)

Higuchi, Aya E.; Sakai, Nami [The Institute of Physical and Chemical Research (RIKEN), 2-1, Hirosawa, Wako-shi, Saitama 351-0198 (Japan); Sato, Aki; Tsukagoshi, Takashi; Momose, Munetake [College of Science, Ibaraki University, Bunkyo 2-1-1, Mito 310-8512 (Japan); Iwasaki, Kazunari [Department of Environmental Systems Science, Doshisha University, Tatara Miyakodani 1-3, Kyotanabe City, Kyoto 610-0394 (Japan); Kobayashi, Hiroshi; Ishihara, Daisuke; Watanabe, Sakae; Kaneda, Hidehiro [Department of Physics, Nagoya University, Furo-cho, Chikusa-ku, Nagoya, Aichi 464-8602 (Japan); Yamamoto, Satoshi, E-mail: aya.higuchi@riken.jp [Department of Physics, The University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan)

2017-04-10

We have detected [C i] {sup 3} P {sub 1}–{sup 3} P {sub 0} emissions in the gaseous debris disks of 49 Ceti and β Pictoris with the 10 m telescope of the Atacama Submillimeter Telescope Experiment, which is the first detection of such emissions. The line profiles of [C i] are found to resemble those of CO( J = 3–2) observed with the same telescope and the Atacama Large Millimeter/submillimeter Array. This result suggests that atomic carbon (C) coexists with CO in the debris disks and is likely formed by the photodissociation of CO. Assuming an optically thin [C i] emission with the excitation temperature ranging from 30 to 100 K, the column density of C is evaluated to be (2.2 ± 0.2) × 10{sup 17} and (2.5 ± 0.7) × 10{sup 16} cm{sup −2} for 49 Ceti and β Pictoris, respectively. The C/CO column density ratio is thus derived to be 54 ± 19 and 69 ± 42 for 49 Ceti and β Pictoris, respectively. These ratios are higher than those of molecular clouds and diffuse clouds by an order of magnitude. The unusually high ratios of C to CO are likely attributed to a lack of H{sub 2} molecules needed to reproduce CO molecules efficiently from C. This result implies a small number of H{sub 2} molecules in the gas disk, i.e., there is an appreciable contribution of secondary gas from dust grains.

From emblems to diagrams: Kepler's new pictorial language of scientific representation.

Science.gov (United States)

Chen-Morris, Raz

2009-01-01

Kepler's treatise on optics of 1604 furnished, along with technical solutions to problems in medieval perspective, a mathematically-based visual language for the observation of nature. This language, based on Kepler's theory of retinal pictures, ascribed a new role to geometrical diagrams. This paper examines Kepler's pictorial language against the backdrop of alchemical emblems that flourished in and around the court of Rudolf II in Prague. It highlights the cultural context in which Kepler's optics was immersed, and the way in which Kepler attempted to demarcate his new science from other modes of the investigation of nature.

PENERAPAN PENDEKATAN INKUIRI TERBIMBING DENGAN METODE PICTORIAL RIDDLE UNTUK MENINGKATKAN PEMAHAMAN KONSEP FISIKA SISWA

Directory of Open Access Journals (Sweden)

Muhammad Minan Chusni

2016-09-01

The results showed that the application of guided inquiry learning with pictorial riddle method can improve students' understanding of the concept in the first cycle with an average value of 42.93 into 50.71 and the second cycle increased to 67.50 and in the third cycle into 80.71. Similarly, the students' motivation to learn physics class is also quite good with a yield of 63.57%.

An Interventional Study Comparing the Memory Retention of Verbal & Pictorial Materials among MMMC Students

OpenAIRE

Khoo Jing Hern; Muhammad Khairul Anwar bin Mohd Yusof; Fatin Nuraidil binti Zaifulbahri; Nurfarah Aini binti Azahar; Grace Sugumaran; Navin Kumar Sarkunam

2017-01-01

Aims: To compare the effectiveness of pictorial against verbal materials in memory retention among medical students. Study Design: Crossover randomized controlled trial. Place and Duration of Study: This study was conducted in Melaka-Manipal Medical College, Muar, Johor, Malaysia in April 2016. Methodology: 38 right-handed medical students of Melaka-Manipal Medical College were volunteers and participants were divided into two groups equally via simple random sampling. One group o...

Full exploration of the giant planet population around β Pictoris

Science.gov (United States)

Lagrange, A.-M.; Keppler, M.; Meunier, N.; Lannier, J.; Beust, H.; Milli, J.; Bonnavita, M.; Bonnefoy, M.; Borgniet, S.; Chauvin, G.; Delorme, P.; Galland, F.; Iglesias, D.; Kiefer, F.; Messina, S.; Vidal-Madjar, A.; Wilson, P. A.

2018-05-01

Context. The search for extrasolar planets has been limited so far to close orbit (typ. ≤5 au) planets around mature solar-type stars on the one hand, and to planets on wide orbits (≥10 au) around young stars on the other hand. To get a better view of the full giant planet population, we have started a survey to search for giant planets around a sample of carefully selected young stars. Aims: This paper aims at exploring the giant planet population around one of our targets, β Pictoris, over a wide range of separations. With a disk and a planet already known, the β Pictoris system is indeed a very precious system for studies of planetary formation and evolution, as well as of planet-disk interactions. Methods: We analyse more than 2000 HARPS high-resolution spectra taken over 13 years as well as NaCo images recorded between 2003 and 2016. We combine these data to compute the detection probabilities of planets throughout the disk, from a fraction of au to a few dozen au. Results: We exclude the presence of planets more massive than 3 MJup closer than 1 au and further than 10 au, with a 90% probability. 15+ MJup companions are excluded throughout the disk except between 3 and 5 au with a 90% probability. In this region, we exclude companions with masses larger than 18 (resp. 30) MJup with probabilities of 60 (resp. 90) %. Based on data obtained with the ESO3.6 m/HARPS spectrograph at La Silla, and with NaCO on the VLT.The RV data are only available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (ftp://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/612/A108

StepByStep : design of an interactive pictorial activity game for teaching generalization skills to children with autism

NARCIS (Netherlands)

Gruarin, A.; Westenberg, M.A.; Barakova, E.I.; Anacleto, J.C.; Clua, E.W.G.; Correa da Silva, F.S.; Fels, S.; Yang, H.S.

2013-01-01

Translating acquired behavioral skills from training environments to daily-life situations is difficult for children with autism. This study introduces the StepByStep platform, in which pictorial activity schedules are implemented. Design decisions that increase the sameness in the environment and

A novel concurrent pictorial choice model of mood-induced relapse in hazardous drinkers.

Science.gov (United States)

Hardy, Lorna; Hogarth, Lee

2017-12-01

This study tested whether a novel concurrent pictorial choice procedure, inspired by animal self-administration models, is sensitive to the motivational effect of negative mood induction on alcohol-seeking in hazardous drinkers. Forty-eight hazardous drinkers (scoring ≥7 on the Alcohol Use Disorders Inventory) recruited from the community completed measures of alcohol dependence, depression, and drinking coping motives. Baseline alcohol-seeking was measured by percent choice to enlarge alcohol- versus food-related thumbnail images in two alternative forced-choice trials. Negative and positive mood was then induced in succession by means of self-referential affective statements and music, and percent alcohol choice was measured after each induction in the same way as baseline. Baseline alcohol choice correlated with alcohol dependence severity, r = .42, p = .003, drinking coping motives (in two questionnaires, r = .33, p = .02 and r = .46, p = .001), and depression symptoms, r = .31, p = .03. Alcohol choice was increased by negative mood over baseline (p choice was not related to gender, alcohol dependence, drinking to cope, or depression symptoms (ps ≥ .37). The concurrent pictorial choice measure is a sensitive index of the relative value of alcohol, and provides an accessible experimental model to study negative mood-induced relapse mechanisms in hazardous drinkers. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Pose Estimation of Interacting People using Pictorial Structures

DEFF Research Database (Denmark)

Fihl, Preben; Moeslund, Thomas B.

2010-01-01

Pose estimation of people have had great progress in recent years but so far research has dealt with single persons. In this paper we address some of the challenges that arise when doing pose estimation of interacting people. We build on the pictorial structures framework and make important...... contributions by combining color-based appearance and edge information using a measure of the local quality of the appearance feature. In this way we not only combine the two types of features but dynamically find the optimal weighting of them. We further enable the method to handle occlusions by searching...... a foreground mask for possible occluded body parts and then applying extra strong kinematic constraints to find the true occluded body parts. The effect of applying our two contributions are show through both qualitative and quantitative tests and show a clear improvement on the ability to correctly localize...

Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

Directory of Open Access Journals (Sweden)

Adalet Elcin Yildiz

2013-01-01

Full Text Available Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.

Clinical and imaging features of male breast disease, with pathological correlation: a pictorial essay

International Nuclear Information System (INIS)

Ng, Angeline Mei Lian; Dissanayake, Deepthi; Wylie, Elizabeth; Metcalf, Cecily

2014-01-01

The majority of male breast diseases are benign. The most common is gynaecomastia. Although it is rare, the most critical diagnosis is a malignancy. Radiologists are generally less familiar with breast disease in males compared with females. This pictorial review will highlight the ultrasonographic, mammographic and pathological features of a spectrum of benign and malignant male breast diseases. This includes gynaecomastia, fat necrosis, lipoma, epidermoid cyst, subareolar abscess, chronic inflammation, melanoma and ductal carcinoma.

Clinical and imaging features of male breast disease, with pathological correlation: a pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Ng, Angeline Mei Lian; Dissanayake, Deepthi; Wylie, Elizabeth [Department of Radiology, Royal Perth Hospital, Perth, WA (Australia); Metcalf, Cecily [Department of Pathology, Royal Perth Hospital, Perth, WA (Australia)

2014-04-15

The majority of male breast diseases are benign. The most common is gynaecomastia. Although it is rare, the most critical diagnosis is a malignancy. Radiologists are generally less familiar with breast disease in males compared with females. This pictorial review will highlight the ultrasonographic, mammographic and pathological features of a spectrum of benign and malignant male breast diseases. This includes gynaecomastia, fat necrosis, lipoma, epidermoid cyst, subareolar abscess, chronic inflammation, melanoma and ductal carcinoma.

A systematic approach to assessing the clinical significance of genetic variants.

Science.gov (United States)

Duzkale, H; Shen, J; McLaughlin, H; Alfares, A; Kelly, M A; Pugh, T J; Funke, B H; Rehm, H L; Lebo, M S

2013-11-01

Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from in vivo or in vitro studies, and computational predictions of potential impacts of each variant. Finally, we weigh all evidence to reach an overall conclusion on the potential for each variant to be disease causing. In this report, we highlight the principles of variant assessment, address the caveats and pitfalls, and provide examples to illustrate the process. By sharing our experience and providing a framework for variant assessment, including access to a freely available customizable tool, we hope to help move towards standardized and consistent approaches to variant assessment. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Pictorial Representation of Self and Illness Measure (PRISM): a graphic instrument to assess suffering in fatigued cancer survivors

NARCIS (Netherlands)

Gielissen, M.F.M.; Prins, J.B.; Knoop, H.; Verhagen, S.; Bleijenberg, G.

2013-01-01

OBJECTIVE: The Pictorial Representation of Self and Illness Measure (PRISM) measures in a simple, graphic way the burden of suffering due to illness. The question addressed in this study is whether the PRISM is a valid instrument to measure suffering in cancer survivors experiencing severe fatigue.

Beam manipulating by metallic nano-slits with variant widths.

Science.gov (United States)

Shi, Haofei; Wang, Changtao; Du, Chunlei; Luo, Xiangang; Dong, Xiaochun; Gao, Hongtao

2005-09-05

A novel method is proposed to manipulate beam by modulating light phase through a metallic film with arrayed nano-slits, which have constant depth but variant widths. The slits transport electro-magnetic energy in the form of surface plasmon polaritons (SPPs) in nanometric waveguides and provide desired phase retardations of beam manipulating with variant phase propagation constant. Numerical simulation of an illustrative lens design example is performed through finite-difference time-domain (FDTD) method and shows agreement with theory analysis result. In addition, extraordinary optical transmission of SPPs through sub-wavelength metallic slits is observed in the simulation and helps to improve elements' energy using factor.

Visual reconstruction of Hampi Temple - Construed Graphically, Pictorially and Digitally

Directory of Open Access Journals (Sweden)

Meera Natampally

2014-05-01

Full Text Available The existing temple complex in Hampi, Karnataka, India was extensively studied, analyzed and documented. The complex was measured-drawn and digitized by plotting its edges and vertices using AutoCAD to generate 2d drawings. The graphic 2d elements developed were extended into 3 dimensional objects using Google sketch-up. The tool has been used to facilitate the visual re-construction to achieve the architecture of the temple in its original form. 3D virtual modelling / visual reconstruction helps us to visualize the structure in its original form giving a holistic picture of the Vijayanagara Empire in all its former glory. The project is interpreted graphically using Auto-CAD drawings, pictorially, digitally using Sketch-Up model and Kinect.

Ultrasonography of various thyroid diseases in children and adolescents: A pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Hong, Hyun Sook; Lee, Eun Hye; Jeong, Sun Hye; Park, Ji Sang; Lee, Heon [Dept. of Radiology, Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon (Korea, Republic of)

2015-04-15

Thyroid imaging is indicated to evaluate congenital hypothyroidism during newborn screening or in cases of a palpable thyroid mass in children and adolescents. This pictorial essay reviews the ultrasonography (US) of thyroid diseases in children and adolescents, including normal thyroid gland development, imaging features of congenital thyroid disorders (dysgenesis, [aplasia, ectopy, hypoplasia], dyshormonogenesis, transient hypothyroidism, thyroglossal duct cyst), diffuse thyroid disease (Grave's disease, Hashimoto's thyroiditis, and suppurative thyroiditis), and thyroid nodules. The primary imaging modalities for evaluating thyroid diseases are US and radionuclide scintigraphy. Additionally, US can be used to guide aspiration of detected nodules.

Intersection of reality and fiction in art perception: pictorial space, body sway and mental imagery.

Science.gov (United States)

Ganczarek, Joanna; Ruggieri, V; Nardi, D; Olivetti Belardinelli, M

2015-09-01

The thesis of embodied cognition claims that perception of the environment entails a complex set of multisensory processes which forms a basis for the agent's potential and immediate actions. However, in the case of artworks, an agent becomes an observer and action turns into a reaction. This raises questions about the presence of embodied or situated cognition involved in art reception. The study aimed to assess the bodily correlates of perceiving fictional pictorial spaces in the absence of a possibility of an actual physical immersion or manipulation of represented forms. The subjects were presented with paintings by Vermeer and De Hooch, whilst their body sway and eye movements were recorded. Moreover, test and questionnaires on mental imagery (MRT, VVIQ and OSIQ) were administered. Three major results were obtained: (1) the degree of pictorial depth did not influence body sway; (2) fixations to distant elements in paintings (i.e. backgrounds) were accompanied by an increase in body sway; and (3) mental rotation test scores correlated positively with body sway. Our results suggest that in certain cases--despite the fictional character of art--observers' reactions resemble reactions to real stimuli. It is proposed that these reactions are mediated by mental imagery (e.g. mental rotation) that contributes to the act of representing alternative to real artistic spaces.

Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

DEFF Research Database (Denmark)

Rasmussen, Lene Juel; Heinen, Christopher D.

2014-01-01

cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

Assessing Probabilistic Reasoning in Verbal-Numerical and Graphical-Pictorial Formats: An Evaluation of the Psychometric Properties of an Instrument

Science.gov (United States)

Agus, Mirian; Penna, Maria Pietronilla; Peró-Cebollero, Maribel; Guàrdia-Olmos, Joan

2016-01-01

Research on the graphical facilitation of probabilistic reasoning has been characterised by the effort expended to identify valid assessment tools. The authors developed an assessment instrument to compare reasoning performances when problems were presented in verbal-numerical and graphical-pictorial formats. A sample of undergraduate psychology…

Fat-containing lesions in vertebrae and spinal canal: a pictorial review

International Nuclear Information System (INIS)

Jeon, Jeong A; Yoo, Won Jong; Lim, Yeon Soo; Kim, Young Joo; Lee, Eun Ja; Sung, Mi Sook; Chung, Myung Hee; Lee, Hae Giu

2007-01-01

The recent development of image techniques, including computed tomography and magnetic resonance imaging, plays an important role in the diagnosis and treatment of spinal disease. A variety of lesions in the spine may contain fat tissue, and these lesions have the possibility of being benign or malignancy. The principle of treatment varies depending on the characteristics of the lesions. The purpose of this pictorial assay is to document the radiologic findings to help physicians make the correct diagnosis, to confirm the characteristics and the extent of the lesion, to anticipate the prognosis and to select and decide upon the therapeutic method when a fat-containing lesion is located in the spinal vertebrae and/or spinal canal

Accurate genotyping across variant classes and lengths using variant graphs

DEFF Research Database (Denmark)

Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

2018-01-01

of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

Psychometric properties of a pictorial scale measuring correct condom use.

Science.gov (United States)

Li, Qing; Li, Xiaoming; Stanton, Bonita; Wang, Bo

2011-02-01

This study was designed to assess the psychometric properties of a pictorial scale of correct condom use (PSCCU) using data from female sex workers (FSWs) in China. The psychometric properties assessed in this study include construct validity by correlations and known-group validation. The study sample included 396 FSWs in Guangxi, China. The results demonstrate adequate validity of the PSCCU among the study population. FSWs with a higher level of education scored significantly higher on the PSCCU than those with a lower level of education. FSWs who self-reported appropriate condom use with stable partners scored significantly higher on PSCCU than their counterparts. The PSCCU should provide HIV/STI prevention researchers and practitioners with a valid alternative assessment tool among high-risk populations, especially in resource-limited settings.

A pictorial review of imaging of abdominal tumours in adolescence

International Nuclear Information System (INIS)

Rasalkar, Darshana D.; Chu, Winnie C.W.; Cheng, Frankie W.T.; Li, Chi Kong; Hui, Sze Ki; Ling, Siu Cheung

2010-01-01

Neoplastic abdominal tumours, particularly those originating from embryonal tissue (such as hepatoblastoma and nephroblastoma) and neural crest cells (such as neuroblastoma), are well-documented in young children. Neoplasms of adulthood, most commonly carcinoma of different visceral organs, are also well-documented. Abdominal tumours in adolescence constitute a distinct pathological group. The radiological features of some of these tumours have been described only in isolated reports. The purpose of this pictorial essay was to review the imaging findings of various kinds of abdominal tumours in adolescent patients (with an age range of 10-16 years) who presented to the Children Cancer Center of our institution in the past 15 years. Some tumours, though rare, have characteristic imaging appearances (especially in CT) that enable an accurate diagnosis before definite histological confirmation. (orig.)

A pictorial review of imaging of abdominal tumours in adolescence

Energy Technology Data Exchange (ETDEWEB)

Rasalkar, Darshana D.; Chu, Winnie C.W. [Chinese University of Hong Kong, Prince of Wales Hospital, Department of Diagnostic Radiology and Organ Imaging, Shatin, New Territories, Hong Kong (China); Cheng, Frankie W.T.; Li, Chi Kong [Chinese University of Hong Kong, Prince of Wales Hospital, Department of Paediatrics, Shatin, Hong Kong (China); Hui, Sze Ki [Princess Margaret Hospital, Department of Obstetrics and Gynaecology, Hong Kong (China); Ling, Siu Cheung [Princess Margaret Hospital, Department of Paediatric and Adolescent Medicine, Hong Kong (China)

2010-09-15

Neoplastic abdominal tumours, particularly those originating from embryonal tissue (such as hepatoblastoma and nephroblastoma) and neural crest cells (such as neuroblastoma), are well-documented in young children. Neoplasms of adulthood, most commonly carcinoma of different visceral organs, are also well-documented. Abdominal tumours in adolescence constitute a distinct pathological group. The radiological features of some of these tumours have been described only in isolated reports. The purpose of this pictorial essay was to review the imaging findings of various kinds of abdominal tumours in adolescent patients (with an age range of 10-16 years) who presented to the Children Cancer Center of our institution in the past 15 years. Some tumours, though rare, have characteristic imaging appearances (especially in CT) that enable an accurate diagnosis before definite histological confirmation. (orig.)

Can pictorial warning labels on cigarette packages address smoking-related health disparities?: Field experiments in Mexico to assess warning label content

Science.gov (United States)

Thrasher, James F.; Arillo-Santillán, Edna; Villalobos, Victor; Pérez-Hernández, Rosaura; Hammond, David; Carter, Jarvis; Sebrié, Ernesto; Sansores, Raul; Regalado-Piñeda, Justino

2012-01-01

Objective This study aimed to determine the most effective content of pictorial health warning labels (HWLs) and whether educational attainment moderates these effects. Methods Field experiments were conducted with 529 adult smokers and 530 young adults (258 nonsmokers; 271 smokers), wherein participants reported responses to different HWLs printed on cigarette packages. One experiment involved manipulating textual form (testimonial narrative vs didactic) and the other involved manipulating imagery type (diseased organs vs human suffering). Results Tests of mean ratings and rankings indicated that HWLs with didactic textual forms had equivalent or significantly higher credibility, relevance, and impact than HWLs with testimonial forms. Results from mixed-effects models confirmed these results. However, responses differed by participant educational attainment: didactic forms were consistently rated higher than testimonials among participants with higher education, whereas the difference between didactic and testimonial narrative forms was weaker or not statistically significant among participants with lower education. In the second experiment, with textual content held constant, greater credibility, relevance and impact was found for graphic imagery of diseased organs than imagery of human suffering. Conclusions Pictorial HWLs with didactic textual forms appear to work better than with testimonial narratives. Future research should determine which pictorial HWL content has the greatest real-world impact among consumers from disadvantaged groups, including assessment of how HWL content should change to maintain its impact as tobacco control environments strengthen and consumer awareness of smoking-related risks increases. PMID:22350859

Cultural themes in elementary EFL textbooks in use in Turkey: a content analysis of pictorial representations

OpenAIRE

Bayrakcıl, Ferda, 1967-

1990-01-01

Ankara : The Faculty of Letters and the Institute of Economics and Social Sciences of Bilkent Univ., 1990. Thesis (Master's) -- Bilkent University, 1990. Includes bibliographical references leaves 75-79. The topic of this study is ”A content analysis of the cultural themes presented in pictorial form in elementary level EFL textbooks”. The literature review (see Chapter IT) concerns itself first with the general definitions of culture, as derived from anthropological, ...

Cellulase variants

Science.gov (United States)

Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

2015-07-14

This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

Imaging of tuberous sclerosis complex: a pictorial review

Energy Technology Data Exchange (ETDEWEB)

Ranke, Felipe Mussi von; Faria, Igor Murad; Zanetti, Glaucia; Marchiori, Edson, E-mail: edmarchiori@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, (Brazil); Hochhegger, Bruno [Santa Casa de Porto Alegre, Porto Alegre, RS (Brazil); Souza Junior, Arthur Soares [Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP) , SP (Brazil)

2017-01-15

Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC. (author)

Developing a Pictorial Sisterhood Method in collaboration with illiterate Maasai traditional birth attendants in northern Tanzania.

Science.gov (United States)

Roggeveen, Yadira; Schreuder, Renske; Zweekhorst, Marjolein; Manyama, Mange; Hatfield, Jennifer; Scheele, Fedde; van Roosmalen, Jos

2016-10-01

To study whether data on maternal mortality can be gathered while maintaining local ownership of data in a pastoralist setting where a scarcity of data sources and a culture of silence around maternal death amplifies limited awareness of the magnitude of maternal mortality. As part of a participatory action research project, investigators and illiterate traditional birth attendants (TBAs) collaboratively developed a quantitative participatory tool-the Pictorial Sisterhood Method-that was pilot-tested between March 12 and May 30, 2011, by researchers and TBAs in a cross-sectional study. Fourteen TBAs interviewed 496 women (sample), which led to 2241 sister units of risk and a maternal mortality ratio of 689 deaths per 100000 live births (95% confidence interval 419-959). Researchers interviewed 474 women (sample), leading to 1487 sister units of risk and a maternal mortality ratio of 484 (95% confidence interval 172-795). The Pictorial Sisterhood Method is an innovative application that might increase the participation of illiterate individuals in maternal health research and advocacy. It offers interesting opportunities to increase maternal mortality data ownership and awareness, and warrants further study and validation. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Evaluating how variants of floristic quality assessment indicate wetland condition.

Science.gov (United States)

Kutcher, Thomas E; Forrester, Graham E

2018-03-28

Biological indicators are useful tools for the assessment of ecosystem condition. Multi-metric and multi-taxa indicators may respond to a broader range of disturbances than simpler indicators, but their complexity can make them difficult to interpret, which is critical to indicator utility for ecosystem management. Floristic Quality Assessment (FQA) is an example of a biological assessment approach that has been widely tested for indicating freshwater wetland condition, but less attention has been given to clarifying the factors controlling its response. FQA quantifies the aggregate of vascular plant species tolerance to habitat degradation (conservatism), and model variants have incorporated species richness, abundance, and indigenity (native or non-native). To assess bias, we tested FQA variants in open-canopy freshwater wetlands against three independent reference measures, using practical vegetation sampling methods. FQA variants incorporating species richness did not correlate with our reference measures and were influenced by wetland size and hydrogeomorphic class. In contrast, FQA variants lacking measures of species richness responded linearly to reference measures quantifying individual and aggregate stresses, suggesting a broad response to cumulative degradation. FQA variants incorporating non-native species, and a variant additionally incorporating relative species abundance, improved performance over using only native species. We relate our empirical findings to ecological theory to clarify the functional properties and implications of the FQA variants. Our analysis indicates that (1) aggregate conservatism reliably declines with increased disturbance; (2) species richness has varying relationships with disturbance and increases with site area, confounding FQA response; and (3) non-native species signal human disturbance. We propose that incorporating species abundance can improve FQA site-level relevance with little extra sampling effort. Using our

DSA volumetric 3D reconstructions of intracranial aneurysms: A pictorial essay

Science.gov (United States)

Cieściński, Jakub; Serafin, Zbigniew; Strześniewski, Piotr; Lasek, Władysław; Beuth, Wojciech

2012-01-01

Summary A gold standard of cerebral vessel imaging remains the digital subtraction angiography (DSA) performed in three projections. However, in specific clinical cases, many additional projections are required, or a complete visualization of a lesion may even be impossible with 2D angiography. Three-dimensional (3D) reconstructions of rotational angiography were reported to improve the performance of DSA significantly. In this pictorial essay, specific applications of this technique are presented in the management of intracranial aneurysms, including: preoperative aneurysm evaluation, intraoperative imaging, and follow-up. Volumetric reconstructions of 3D DSA are a valuable tool for cerebral vessels imaging. They play a vital role in the assessment of intracranial aneurysms, especially in evaluation of the aneurysm neck and the aneurysm recanalization. PMID:22844309

[Specificities of the logopenic variant of primary progressive aphasia].

Science.gov (United States)

Magnin, E; Teichmann, M; Martinaud, O; Moreaud, O; Ryff, I; Belliard, S; Pariente, J; Moulin, T; Vandel, P; Démonet, J-F

2015-01-01

The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

CT appearance of complications related to thoracic endovascular aortic repair (TEVAR): a pictorial essay

International Nuclear Information System (INIS)

Pua, U.; Tay, K.H.; Tan, B.S.; Htoo, M.M.; Sebastian, M.; Sin, K.; Chua, Y.L.

2009-01-01

Thoracic endovascular aortic repair (TEVAR) is a recognized treatment for various diseases involving the thoracic aorta. Patients treated with TEVAR require lifelong surveillance for potential complications, with CT being highly utilized in most centres. Endoleak is the most common complication and can be detected using CT. However, other complications such as stent strut perforations and end organ ischemia can also be detected on CT. The purpose of this pictorial essay is to illustrate the CT appearance of post-TEVAR complications encountered in our institution and to highlight their significance. (orig.)

CT appearance of complications related to thoracic endovascular aortic repair (TEVAR): a pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Pua, U. [Singapore General Hospital, Department of Diagnostic Radiology, Singapore (Singapore); Tan Tock Seng Hospital, Department of Diagnostic Radiology, Singapore (Singapore); Tay, K.H.; Tan, B.S.; Htoo, M.M. [Singapore General Hospital, Department of Diagnostic Radiology, Singapore (Singapore); Sebastian, M. [Singapore General Hospital, Department of General Surgery, Singapore (Singapore); Sin, K.; Chua, Y.L. [National Heart Centre, Department of Cardiothoracic and Vascular Surgery, Singapore (Singapore)

2009-05-15

Thoracic endovascular aortic repair (TEVAR) is a recognized treatment for various diseases involving the thoracic aorta. Patients treated with TEVAR require lifelong surveillance for potential complications, with CT being highly utilized in most centres. Endoleak is the most common complication and can be detected using CT. However, other complications such as stent strut perforations and end organ ischemia can also be detected on CT. The purpose of this pictorial essay is to illustrate the CT appearance of post-TEVAR complications encountered in our institution and to highlight their significance. (orig.)

EVALUATION OF THE IMPACT OF PUBLIC INVESTMENTS ON THE ENVIRONMENT ON THE EXAMPLE OF STADIUM IMPLEMENTATION

Directory of Open Access Journals (Sweden)

Elżbieta Hanna Szafranko

2017-10-01

Full Text Available Public purpose investments constitute a special group among the construction investments. They are generally large and their construction is conditioned by the needs of the local communities. The regulations impose the need to analyze variants of this type of investment and to take into account the solutions that cause the low environmental damage. The analyzed example is a specific object, mainly due to the presence of very large groups of people during sporting events. The analysis of the evaluation criteria should cover different location variants as well as design and construction solutions. The assessment of investment variants in this paper takes into account the specific function of the facility, and the criteria used in the analysis concern such phenomena as pollution and noise reduction, environmental impact, collisions with environmental elements, and the ability to safely park a large number of cars. Due to the large number of factors involved in the procedure, it is necessary to employ effective methods of supporting the decision-making processes. The article describes an example of evaluating variants using multicriteria analysis methods. The obtained results confirmed the usefulness of the proposed procedure.

Suffering Quantified? Feasibility and Psychometric Characteristics of 2 Revised Versions of the Pictorial Representation of Illness and Self Measure (PRISM)

NARCIS (Netherlands)

PhD Ad J.J.M. Vingerhoets; PhD Marjet G.B.G. Blokhorst; MSc Jolene L.M. Reimus; MSc Annemieke M.A. van Nunen; MD E.J.M. Wouters

2008-01-01

The Pictorial Representation of Illness and Self Measure (PRISM) assesses suffering. In this article, the authors explored the feasibility and psychometric qualities of 2 revised versions of the PRISM-PRISM-R1 and PRISM-R2-that they used in 3 studies of participants with different medical problems.

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Directory of Open Access Journals (Sweden)

Deborah I. Ritter

2016-11-01

Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

CDKL5 variants

Science.gov (United States)

Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

2017-01-01

Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

Pictorial Superiority Effects in Oldest-Old People

Science.gov (United States)

Cherry, Katie E.; Hawley, Karri S.; Jackson, Erin M.; Volaufova, Julia; Su, L. Joseph; Jazwinski, S. Michal

2008-01-01

In this article, we examined memory for pictures and words in middle-age (45-59 years), young-old (60-74 years), old-old (75-89 years) and the oldest-old adults (90-97 years) in the Louisiana Healthy Aging Study. Stimulus items were presented and retention was tested in a blocked order where half of the participants studied 16 simple line drawings and the other half studied matching words during acquisition. Free recall and recognition followed. In the next acquisition/test block, a new set of items was used where the stimulus format was changed relative to the first block. Results yielded pictorial superiority effects in both retention measures for all age groups. Follow-up analyses of clustering in free recall revealed a greater number of categories were accessed (which reflects participants' retrieval plan) and more items were recalled per category (which reflects participants' encoding strategy) when pictures served as stimuli compared to words. Cognitive status and working memory span were correlated with picture and word recall. Regression analyses confirmed that these individual difference variables accounted for significant age-related variance in recall. These data strongly suggest that the oldest-old can utilize nonverbal memory codes to support long-term retention as effectively as do younger adults. PMID:18651263

Pictorial Review of Surgical Anatomy in Adult Congenital Heart Disease.

Science.gov (United States)

De Cecco, Carlo N; Muscogiuri, Giuseppe; Madrid Pérez, José M; Eid, Marwen; Suranyi, Pal; Lesslie, Virginia W; Bastarrika, Gorka

2017-07-01

The survival rate of patients with congenital heart disease (CHD) has dramatically improved over the last 2 decades because of technological and surgical advances in diagnosis and treatment, respectively. The vast majority of CHD patients are, in fact, amenable to treatment by either device closure or surgery. Considering the wide spectrum of surgical procedures and complex native and derived anatomy, continuous and detailed follow-up is of paramount importance. Cardiac magnetic resonance and cardiac computed tomography angiography are the cornerstones of diagnosis and follow-up of CHD, allowing for comprehensive noninvasive assessment of the heart, coronary tree, and intrathoracic great vessels, along with both morphological and functional evaluation. The aim of this pictorial review is to provide an overview of the most common CHDs and their related surgical procedures as familiarity with the radiological findings of grown-up congenital heart disease patients is crucial for proper diagnostic and follow-up pathways.

Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

Science.gov (United States)

Kasahara, Takaoki; Ishiwata, Mizuho; Kakiuchi, Chihiro; Fuke, Satoshi; Iwata, Nakao; Ozaki, Norio; Kunugi, Hiroshi; Minabe, Yoshio; Nakamura, Kazuhiko; Iwata, Yasuhide; Fujii, Kumiko; Kanba, Shigenobu; Ujike, Hiroshi; Kusumi, Ichiro; Kataoka, Muneko; Matoba, Nana; Takata, Atsushi; Iwamoto, Kazuya; Yoshikawa, Takeo; Kato, Tadafumi

2017-08-01

Rare missense variants, which likely account for a substantial portion of the genetic 'dark matter' for a common complex disease, are challenging because the impacts of variants on disease development are difficult to substantiate. This study aimed to examine the impacts of amino acid substitution variants in the POLG1 found in bipolar disorder, as an example and proof of concept, in three different modalities of assessment: in silico predictions, in vitro biochemical assays, and clinical evaluation. We then tested whether deleterious variants in POLG1 contributed to the genetics of bipolar disorder. We searched for variants in the POLG1 gene in 796 Japanese patients with bipolar disorder and 767 controls and comprehensively investigated all 23 identified variants in the three modalities of assessment. POLG1 encodes mitochondrial DNA polymerase and is one of the causative genes for a Mendelian-inheritance mitochondrial disease, which is occasionally accompanied by mood disorders. The healthy control data from the Tohoku Medical Megabank Organization were also employed. Although the frequency of carriers of deleterious variants varied from one method to another, every assessment achieved the same conclusion that deleterious POLG1 variants were significantly enriched in the variants identified in patients with bipolar disorder compared to those in controls. Together with mitochondrial dysfunction in bipolar disorder, the present results suggested deleterious POLG1 variants as a credible risk for the multifactorial disease. © 2016 The Authors. Psychiatry and Clinical Neurosciences published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.

Automatic generation of pictorial transcripts of video programs

Science.gov (United States)

Shahraray, Behzad; Gibbon, David C.

1995-03-01

An automatic authoring system for the generation of pictorial transcripts of video programs which are accompanied by closed caption information is presented. A number of key frames, each of which represents the visual information in a segment of the video (i.e., a scene), are selected automatically by performing a content-based sampling of the video program. The textual information is recovered from the closed caption signal and is initially segmented based on its implied temporal relationship with the video segments. The text segmentation boundaries are then adjusted, based on lexical analysis and/or caption control information, to account for synchronization errors due to possible delays in the detection of scene boundaries or the transmission of the caption information. The closed caption text is further refined through linguistic processing for conversion to lower- case with correct capitalization. The key frames and the related text generate a compact multimedia presentation of the contents of the video program which lends itself to efficient storage and transmission. This compact representation can be viewed on a computer screen, or used to generate the input to a commercial text processing package to generate a printed version of the program.

The Interactive Effects of Color Realism, Clustering, and Age on Pictorial Recall Memory among Students in Malaysia

OpenAIRE

Shaari, Ahmad Jelani

1998-01-01

This study investigates the effects of clustering or format of presentation (categorized and uncategorized lists), level of color realism of graphics (color pictures, black and white pictures and line drawings), and age (10 year old, 16 year old and adults) on the pictorial recall memory among students in Malaysia. Three hundred sixty students of three age groups were randomly assigned to one of the six stimulus treatments (categorized color, uncategorized color, categorized black and white, ...

Pictorial Personality Traits Questionnaire for Children (PPTQ-C) – a new measure of children’s personality traits

OpenAIRE

Marta eMaćkiewicz; Jan eCieciuch

2016-01-01

In order to adjust personality measurements to children’s developmental level, we constructed the Pictorial Personality Traits Questionnaire for Children (PPTQ-C). To validate the measure, we conducted a study with a total group of 1028 children aged between 7 and 13 years old. Structural validity was established through Exploratory Structural Equation Model. Criterion validity was confirmed with a multitrait-multimethod analysis for which we introduced the children’s self-assessment scores f...

Fine-scale patterns of population stratification confound rare variant association tests.

Directory of Open Access Journals (Sweden)

Timothy D O'Connor

Full Text Available Advances in next-generation sequencing technology have enabled systematic exploration of the contribution of rare variation to Mendelian and complex diseases. Although it is well known that population stratification can generate spurious associations with common alleles, its impact on rare variant association methods remains poorly understood. Here, we performed exhaustive coalescent simulations with demographic parameters calibrated from exome sequence data to evaluate the performance of nine rare variant association methods in the presence of fine-scale population structure. We find that all methods have an inflated spurious association rate for parameter values that are consistent with levels of differentiation typical of European populations. For example, at a nominal significance level of 5%, some test statistics have a spurious association rate as high as 40%. Finally, we empirically assess the impact of population stratification in a large data set of 4,298 European American exomes. Our results have important implications for the design, analysis, and interpretation of rare variant genome-wide association studies.

Effects of viewing ordered pictorial reminders on long-term memory in the first year of life

OpenAIRE

Carver, Leslie J.

2011-01-01

Previous research has shown that reminders can be effective for extending and enhancing a variety of kinds of memory in infants. We investigated the effects of viewing pictorial representations of actions that were included in imitation events used to measure long-term memory in young infants. Infants who saw the pictures of actions displayed in the order in which they comprised events showed evidence of memory for the events. Infants who saw the actions presented randomly did not. These resu...

Performance comparison of various time variant filters

Energy Technology Data Exchange (ETDEWEB)

Kuwata, M [JEOL Engineering Co. Ltd., Akishima, Tokyo (Japan); Husimi, K

1996-07-01

This paper describes the advantage of the trapezoidal filter used in semiconductor detector system comparing with the other time variant filters. The trapezoidal filter is the compose of a rectangular pre-filter and a gated integrator. We indicate that the best performance is obtained by the differential-integral summing type rectangular pre-filter. This filter is not only superior in performance, but also has the useful feature that the rising edge of the output waveform is linear. We introduce an example of this feature used in a high-energy experiment. (author)

Clinical Significance of HER-2 Splice Variants in Breast Cancer Progression and Drug Resistance

Directory of Open Access Journals (Sweden)

Claire Jackson

2013-01-01

Full Text Available Overexpression of human epidermal growth factor receptor (HER-2 occurs in 20–30% of breast cancers and confers survival and proliferative advantages on the tumour cells making HER-2 an ideal therapeutic target for drugs like Herceptin. Continued delineation of tumour biology has identified splice variants of HER-2, with contrasting roles in tumour cell biology. For example, the splice variant 16HER-2 (results from exon 16 skipping increases transformation of cancer cells and is associated with treatment resistance; conversely, Herstatin (results from intron 8 retention and p100 (results from intron 15 retention inhibit tumour cell proliferation. This review focuses on the potential clinical implications of the expression and coexistence of HER-2 splice variants in cancer cells in relation to breast cancer progression and drug resistance. “Individualised” strategies currently guide breast cancer management; in accordance, HER-2 splice variants may prove valuable as future prognostic and predictive factors, as well as potential therapeutic targets.

Medieval Pictorial Art and Medieval Spanish Literature: A Case in Point for the Use of the Visual Arts in the Literature Class.

Science.gov (United States)

Bergstrom, Stanford E.

1991-01-01

An exploration of the connection between literature and the visual arts and its application in the foreign language literature class includes an illustration of how a medieval literary Spanish masterpiece becomes more clear when the text is compared with medieval pictorial art pieces. (four references) (Author/CB)

A randomized trial comparison of the effects of verbal and pictorial naturalistic communication strategies on spoken language for young children with autism.

Science.gov (United States)

Schreibman, Laura; Stahmer, Aubyn C

2014-05-01

Presently there is no consensus on the specific behavioral treatment of choice for targeting language in young nonverbal children with autism. This randomized clinical trial compared the effectiveness of a verbally-based intervention, Pivotal Response Training (PRT) to a pictorially-based behavioral intervention, the Picture Exchange Communication System (PECS) on the acquisition of spoken language by young (2-4 years), nonverbal or minimally verbal (≤9 words) children with autism. Thirty-nine children were randomly assigned to either the PRT or PECS condition. Participants received on average 247 h of intervention across 23 weeks. Dependent measures included overall communication, expressive vocabulary, pictorial communication and parent satisfaction. Children in both intervention groups demonstrated increases in spoken language skills, with no significant difference between the two conditions. Seventy-eight percent of all children exited the program with more than 10 functional words. Parents were very satisfied with both programs but indicated PECS was more difficult to implement.

THE LOWEST-MASS MEMBER OF THE β PICTORIS MOVING GROUP

International Nuclear Information System (INIS)

Rice, Emily L.; Faherty, Jacqueline K.; Cruz, Kelle L.

2010-01-01

We present spectral and kinematic evidence that 2MASS J06085283-2753583 (M8.5γ) is a member of the β Pictoris Moving Group (BPMG, age ∼12 Myr), making it the latest-type known member of this young, nearby association. We confirm low-gravity spectral morphology at both medium and high resolutions in the near-infrared. We present new radial velocity and proper motion measurements, and use these to calculate galactic location and space motion consistent with other high-probability members of the BPMG. The predicted mass range consistent with the object's effective temperature, surface gravity, spectral type, and age is 15-35 M Jup , placing 2MASS 0608-27 well within the brown dwarf mass regime. 2MASS J06085283-2753583 is thus confidently added to the short list of very low mass, intermediate age benchmark objects that inform ongoing searches for the lowest-mass members of nearby young associations.

The MRI features of placental adhesion disorder—a pictorial review

Science.gov (United States)

Teixidor Vinas, Mireia; Whitby, Elspeth

2016-01-01

Placental adhesion disorder (PAD) comprises placenta accreta, increta and percreta lesions; these are classified according to the depth of uterine invasion. Although PAD is considered a rare condition, its incidence has increased 10-fold in the last 50 years. Ultrasound is the primary imaging modality for the assessment of the placenta and in the majority of cases, it is sufficient for diagnosis; however, when ultrasound findings are suspicious or inconclusive, MRI is recommended as an adjunct imaging technique. Numerous MRI features of PAD have been described, including dark intraplacental bands, disorganized intraplacental vascularity and abnormal uterine bulging. This pictorial review describes and illustrates these characteristics and discusses their implications in planning delivery. In addition, we present a series of “pitfall” cases to aid the interpreting radiologist and discuss management of PAD. PAD is a clinical and diagnostic challenge that is encountered with increasing frequency, requiring a cohesive multidisciplinary approach to its management. PMID:27355318

Native T1 mapping of the heart - a pictorial review.

Science.gov (United States)

Germain, Philippe; El Ghannudi, Soraya; Jeung, Mi-Young; Ohlmann, Patrick; Epailly, Eric; Roy, Catherine; Gangi, Afshin

2014-01-01

T1 mapping is now a clinically feasible method, providing pixel-wise quantification of the cardiac structure's T1 values. Beyond focal lesions, well depicted by late gadolinium enhancement sequences, it has become possible to discriminate diffuse myocardial alterations, previously not assessable by noninvasive means. The strength of this method includes the high reproducibility and immediate clinical applicability, even without the use of contrast media injection (native or pre-contrast T1). The two most important determinants of native T1 augmentation are (1) edema related to tissue water increase (recent infarction or inflammation) and (2) interstitial space increase related to fibrosis (infarction scar, cardiomyopathy) or to amyloidosis. Conversely, lipid (Anderson-Fabry) or iron overload diseases are responsible for T1 reduction. In this pictorial review, the main features provided by native T1 mapping are discussed and illustrated, with a special focus on the awaited clinical purpose of this unique, promising new method.

Imaging in covert ectopic ACTH secretion: a CT pictorial review

Energy Technology Data Exchange (ETDEWEB)

Sookur, Paul A.; Sahdev, Anju; Rockall, Andrea G.; Reznek, Rodney H. [St Bartholomew' s Hospital, Department of Academic Radiology, Dominion House, London (United Kingdom); Isidori, Andrea M. [Sapienza University of Rome, Department of Medical Pathophysiology, Rome (Italy); Monson, John P.; Grossman, Ashley B. [St Bartholomew' s Hospital, Department of Endocrinology, London (United Kingdom)

2009-05-15

The syndrome of ectopic adrenocorticotrophin secretion (EAS) is rare and is due to excess adrenocorticotrophin (ACTH) production from a nonpituitary tumour. These tumours can be covert, where the tumours are not readily apparent, and very small making them challenging to image. It is clinically and biochemically difficult to distinguish between covert EAS and Cushing's disease. The first-line investigation in locating the source of ACTH production is computed tomography (CT). The aim of this pictorial review is to illustrate the likely covert sites and related imaging findings. We review the CT appearances of tumours resulting in covert EAS and the associated literature. The most common tumours were bronchial carcinoid tumours, which appear as small, well-defined, round or ovoid pulmonary lesions. Rarer causes included thymic carcinoids, gastrointestinal carcinoids and pancreatic neuroendocrine tumours. Awareness of the imaging characteristics will aid identification of the source of ACTH production and allow potentially curative surgical resection. (orig.)

Imaging of pulmonary emphysema: A pictorial review

Science.gov (United States)

Takahashi, Masashi; Fukuoka, Junya; Nitta, Norihisa; Takazakura, Ryutaro; Nagatani, Yukihiro; Murakami, Yoko; Otani, Hideji; Murata, Kiyoshi

2008-01-01

The term ‘emphysema’ is generally used in a morphological sense, and therefore imaging modalities have an important role in diagnosing this disease. In particular, high resolution computed tomography (HRCT) is a reliable tool for demonstrating the pathology of emphysema, even in subtle changes within secondary pulmonary lobules. Generally, pulmonary emphysema is classified into three types related to the lobular anatomy: centrilobular emphysema, panlobular emphysema, and paraseptal emphysema. In this pictorial review, we discuss the radiological – pathological correlation in each type of pulmonary emphysema. HRCT of early centrilobular emphysema shows an evenly distributed centrilobular tiny areas of low attenuation with ill-defined borders. With enlargement of the dilated airspace, the surrounding lung parenchyma is compressed, which enables observation of a clear border between the emphysematous area and the normal lung. Because the disease progresses from the centrilobular portion, normal lung parenchyma in the perilobular portion tends to be preserved, even in a case of far-advanced pulmonary emphysema. In panlobular emphysema, HRCT shows either panlobular low attenuation or ill-defined diffuse low attenuation of the lung. Paraseptal emphysema is characterized by subpleural well-defined cystic spaces. Recent topics related to imaging of pulmonary emphysema will also be discussed, including morphometry of the airway in cases of chronic obstructive pulmonary disease, combined pulmonary fibrosis and pulmonary emphysema, and bronchogenic carcinoma associated with bullous lung disease. PMID:18686729

Neurological complications following liver transplant: a pictorial review of radiological and clinical findings

Energy Technology Data Exchange (ETDEWEB)

Lee, Young Kyung; Shin, Ji Hoon; Kim, Sang Joon; Lee, Deok Hee; Lee, Ho Kyu; Choi, Choong Gon; Suh, Dae Chul [University of Ulsan College of Medicine, Seoul (Korea, Republic of)

2005-07-15

Neurological complications are a rare but important and significant source of information about morbidity and mortality in liver transplant patients. Based on the clinical and radiological findings of 21 patients, neurological complications were categorized into five main groups; focal hemorrhagic or occlusive complications (n=11); diffuse hypoxic-ischemic injury (n=3); hypertensive encephalopathy (n=1); central pontine or extra-pontine myelinolysis (n=4); and infection (n=2). Neurological manifestations varied according to the location of the lesion, although seizures were the most common manifestation. In this pictorial review, we illustrate the radiological findings, focusing on MR and CT images, of a spectrum of neurological complications following liver transplants, as well as their clinical correlations.

Neurological complications following liver transplant: a pictorial review of radiological and clinical findings

International Nuclear Information System (INIS)

Lee, Young Kyung; Shin, Ji Hoon; Kim, Sang Joon; Lee, Deok Hee; Lee, Ho Kyu; Choi, Choong Gon; Suh, Dae Chul

2005-01-01

Neurological complications are a rare but important and significant source of information about morbidity and mortality in liver transplant patients. Based on the clinical and radiological findings of 21 patients, neurological complications were categorized into five main groups; focal hemorrhagic or occlusive complications (n=11); diffuse hypoxic-ischemic injury (n=3); hypertensive encephalopathy (n=1); central pontine or extra-pontine myelinolysis (n=4); and infection (n=2). Neurological manifestations varied according to the location of the lesion, although seizures were the most common manifestation. In this pictorial review, we illustrate the radiological findings, focusing on MR and CT images, of a spectrum of neurological complications following liver transplants, as well as their clinical correlations

Visual interaction: models, systems, prototypes. The Pictorial Computing Laboratory at the University of Rome La Sapienza.

Science.gov (United States)

Bottoni, Paolo; Cinque, Luigi; De Marsico, Maria; Levialdi, Stefano; Panizzi, Emanuele

2006-06-01

This paper reports on the research activities performed by the Pictorial Computing Laboratory at the University of Rome, La Sapienza, during the last 5 years. Such work, essentially is based on the study of humancomputer interaction, spans from metamodels of interaction down to prototypes of interactive systems for both synchronous multimedia communication and groupwork, annotation systems for web pages, also encompassing theoretical and practical issues of visual languages and environments also including pattern recognition algorithms. Some applications are also considered like e-learning and collaborative work.

Radiographic, CT and MRI spectrum of hydatid disease of the chest: a pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Sinner, W.N. von [Dept. of Radiology MBC28, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia)

1993-01-01

Thirty patients with thoracic hydatidosis (Echinococcus granulosus) were studied. The hydatid cysts were located in the lung parenchyma (70%), mediastinum (6.7%), inside the heart (10%), the pleurae (10%) and the chest wall (3.3%). Complications of thoracic hydatid cysts, such as rupture, infection, pleural involvement, spread and calcifications are presented. Computed tomography (CT) without and/or with contrast enhancement was performed in all patients (30). Findings from conventional chest radiographs were compared with CT and confirmed by pathology (30). In 10 cases (33.3%), magnetic resonance imaging was also performed. The diagnostic spectrum of hydatid cysts, including variations and developmental stages, is presented in this pictorial essay. (orig.)

Haemoglobin Pierre-Benite--a high affinity variant associated with relative polycythaemia.

Science.gov (United States)

Beard, M E; Potter, H C; Spearing, R L; Brennan, S O

2001-12-01

This is the second reported example of Hb Pierre--Benite (beta90 Glu-->Asp). This mutation is associated with increased oxygen affinity and polycythaemia. No instability was found and there was no charge shift detected by cellulose acetate electrophoresis at pH 8.3. The mutation was however, clearly indicated by electrospray ionization mass spectrometry (ESI MS), which showed an abnormal beta chain with a 14 Da decrease in mass. Blood volume studies documented a relative rather than a true polycythaemia and this finding has been reported in at least two other high affinity haemoglobin variants--Hb Heathrow and Hb Rahere. This finding led to delay in diagnosis because high oxygen affinity variants are conventionally considered to cause a true polycythaemia.

Patient selection guidelines in MR-guided focused ultrasound surgery of uterine fibroids: a pictorial guide to relevant findings in screening pelvic MRI

International Nuclear Information System (INIS)

Yoon, Sang-Wook; Kim, Kyoung Ah; Lee, Chan; Na, Young-Jeong; Jung, Sang-Geun; Kim, Seung-Jo; Cha, Sun Hee; Yu, Jeong-Sik

2008-01-01

Uterine leiomyomas (fibroids), the most common benign tumor in women of childbearing age, can cause symptoms including dysmenorrhea, menorrhagia, urinary symptoms, pain and infertility. Hysterectomy is a common approach to treating uterine fibroids, and less invasive surgical approaches such as myomectomy and uterine artery embolization also have been shown to alleviate symptoms. Magnetic resonance-guided focused ultrasound surgery (MRgFUS) is the only totally non-invasive surgical approved method for treating uterine fibroids. In clinical trials, MRgFUS resulted in significant relief of uterine fibroid symptoms. The safe and effective use of MRgFUS is affected by fibroid type and location, position relative to adjacent anatomical structures and the presence of co-existent pelvic disease. Additionally, successful outcomes with MRgFUS have been correlated with the volume of fibroids ablated during the procedure. Thus, selection of patients in whom sufficient fibroid volumes can be treated safely using the MRgFUS system is critical for successful outcomes. The MR images in this pictorial essay provide examples of uterine fibroids for which MRgFUS should be considered and is designed to facilitate the selection of patients for whom MRgFUS is most likely to provide sustained symptom relief. (orig.)

Patient selection guidelines in MR-guided focused ultrasound surgery of uterine fibroids: a pictorial guide to relevant findings in screening pelvic MRI

Energy Technology Data Exchange (ETDEWEB)

Yoon, Sang-Wook; Kim, Kyoung Ah [Pochon CHA University Bundang CHA General Hospital, Department of Diagnostic Radiology, College of Medicine, Gyunggi-do (Korea); Lee, Chan; Na, Young-Jeong; Jung, Sang-Geun; Kim, Seung-Jo [Pochon CHA University Bundang CHA General Hospital, Comprehensive Gynecologic Cancer Center, College of Medicine, Gyunggi-do (Korea); Cha, Sun Hee [Pochon CHA University Bundang CHA General Hospital, Department of Obstetrics and Gynecology, College of Medicine, Gyunggi-do (Korea); Yu, Jeong-Sik [YongDong Severance Hospital, Department of Diagnostic Radiology, Yonsei University College of Medicine, Seoul (Korea)

2008-12-15

Uterine leiomyomas (fibroids), the most common benign tumor in women of childbearing age, can cause symptoms including dysmenorrhea, menorrhagia, urinary symptoms, pain and infertility. Hysterectomy is a common approach to treating uterine fibroids, and less invasive surgical approaches such as myomectomy and uterine artery embolization also have been shown to alleviate symptoms. Magnetic resonance-guided focused ultrasound surgery (MRgFUS) is the only totally non-invasive surgical approved method for treating uterine fibroids. In clinical trials, MRgFUS resulted in significant relief of uterine fibroid symptoms. The safe and effective use of MRgFUS is affected by fibroid type and location, position relative to adjacent anatomical structures and the presence of co-existent pelvic disease. Additionally, successful outcomes with MRgFUS have been correlated with the volume of fibroids ablated during the procedure. Thus, selection of patients in whom sufficient fibroid volumes can be treated safely using the MRgFUS system is critical for successful outcomes. The MR images in this pictorial essay provide examples of uterine fibroids for which MRgFUS should be considered and is designed to facilitate the selection of patients for whom MRgFUS is most likely to provide sustained symptom relief. (orig.)

Pictorial Representation of Illness and Self Measure Revised II (PRISM-RII) - a novel method to assess perceived burden of illness in diabetes patients

NARCIS (Netherlands)

Klis, S.; Vingerhoets, A.J.M.M.; de, W.M.; Zandbelt, N.; Snoek, F.J.

2008-01-01

Background: The Pictorial Representation of Illness and Self Measure (PRISM) has been introduced as a visual measure of suffering. We explored the validity of a revised version, the PRISM-RII, in diabetes patients as part of the annual review. Methods: Participants were 308 adult outpatients with

Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits.

Science.gov (United States)

Smith, Andrew J P; Deloukas, Panos; Munroe, Patricia B

2018-04-13

Over the last decade, genome-wide association studies (GWAS) have propelled the discovery of thousands of loci associated with complex diseases. The focus is now turning towards the function of these association signals, determining the causal variant(s) amongst those in strong linkage disequilibrium, and identifying their underlying mechanisms, such as long-range gene regulation. Genome-editing techniques utilising zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALENs) and clustered regularly-interspaced short palindromic repeats with Cas9 nuclease (CRISPR-Cas9), are becoming the tools of choice to establish functionality for these variants, due to the ability to assess effects of single variants in vivo. This review will discuss examples of how these technologies have begun to aid functional analysis of GWAS loci for complex traits such as cardiovascular disease, type 2 diabetes, cancer, obesity and autoimmune disease. We focus on analysis of variants occurring within non-coding genomic regions, as these comprise the majority of GWAS variants, providing the greatest challenges to determining functionality, and compare editing strategies that provide different levels of evidence for variant functionality. The review describes molecular insights into some of these potentially causal variants, and how these may relate to the pathology of the trait, and look towards future directions for these technologies in post-GWAS analysis, such as base-editing.

Structural Basis for Degenerate Recognition of Natural HIV Peptide Variants by Cytotoxic Lymphocytes

International Nuclear Information System (INIS)

Martinez-Hackert, E.; Anikeeva, N.; Kalams, S.; Walker, B.; Hendrickson, W.; Sykulev, Y.

2006-01-01

It is well established that even small changes in amino acid side chains of antigenic peptide bound to MHC protein may completely abrogate recognition of the peptide-MHC (pMHC) complex by the T-cell receptor (TCR). Often, however, several non-conservative substitutions in the peptide antigen are accommodated and do not impair its recognition by TCR. For example, a preponderance of natural sequence variants of the HIV p17 Gag-derived peptide SLYNTVATL (SL9) are recognized by cytotoxic T lymphocytes (CTL), which implies that interactions with SL9 variants are degenerate both with respect to the class I MHC molecule and with respect to TCR. Here we study the molecular basis for this degenerate recognition of SL9 variants. We show that several SL9 variants bind comparably well to soluble HLA-A2 and to a particular soluble TCR and that these variants are active in the cognate cytotoxicity assay. Natural SL9 variation is restricted by its context in the HIV p17 matrix protein, and we have used synthetic variants to explore the wider spectrum of recognition. High-resolution crystal structures of seven selected SL9 variants bound to HLA-A2 all have remarkably similar peptide conformations and side-chain dispositions outside sites of substitution. This preservation of the peptide conformation despite epitope variations suggests a mechanism for the observed degeneracy in pMHC recognition by TCR, and may contribute to the persistence of SL9-mediated immune responses in chronically infected individuals

Magnetic Resonance Imaging Appearance of Schwannomas from Head to Toe: A Pictorial Review

Directory of Open Access Journals (Sweden)

Jamie Crist

2017-01-01

Full Text Available Schwannomas are benign soft-tissue tumors that arise from peripheral nerve sheaths throughout the body and are commonly encountered in patients with neurofibromatosis Type 2. The vast majority of schwannomas are benign, with rare cases of malignant transformation reported. In this pictorial review, we discuss the magnetic resonance imaging (MRI appearance of schwannomas by demonstrating a collection of tumors from different parts of the body that exhibit similar MRI characteristics. We review strategies to distinguish schwannomas from malignant soft-tissue tumors while exploring the anatomic and histologic origins of these tumors to discuss how this correlates with their imaging findings. Familiarity with the MRI appearance of schwannomas can help aid in the differential diagnosis of soft-tissue masses, especially in unexpected locations.

Analysis of Trivium by a Simulated Annealing variant

DEFF Research Database (Denmark)

Borghoff, Julia; Knudsen, Lars Ramkilde; Matusiewicz, Krystian

2010-01-01

This paper proposes a new method of solving certain classes of systems of multivariate equations over the binary field and its cryptanalytical applications. We show how heuristic optimization methods such as hill climbing algorithms can be relevant to solving systems of multivariate equations....... A characteristic of equation systems that may be efficiently solvable by the means of such algorithms is provided. As an example, we investigate equation systems induced by the problem of recovering the internal state of the stream cipher Trivium. We propose an improved variant of the simulated annealing method...

Development and validation of the Pictorial Cognitive Screening Inventory for illiterate people with dementia

Directory of Open Access Journals (Sweden)

Park S

2014-09-01

Full Text Available Soowon Park,1,* Se-Eun Park,1,* Min-Ji Kim,2 Hee-Yeon Jung,1,2 Jung-Seok Choi,1,2 Kee-Hwan Park,3 Inhye Kim,1 Jun-Young Lee1,2 1Department of Neuropsychiatry, SMG-SNU Boramae Medical Center, Seoul, Republic of Korea; 2Department of Psychiatry and Behavioral Science, Seoul National University College of Medicine, Seoul, Republic of Korea; 3Department of Psychology, The Catholic University of Korea, Bucheon, Republic of Korea *These authors contributed equally to this work Purpose: The purpose of this study was to develop and validate a tool called the Pictorial Cognitive Screening Inventory (PCSI, which consists of pictorial memory and attention tests that are not influenced by literacy level.Patients and methods: PCSI, Mini Mental State Examination (MMSE, and Clinical Dementia Rating (CDR questionnaires were administered to 80 elderly participants (20 illiterate normal, 20 illiterate with dementia, 20 literate normal, and 20 literate with dementia.Results: PCSI scores were highly correlated with those of the MMSE (r 0.51 and the CDR (r -0.71. In addition, the PCSI scores differed significantly between the normal group and the dementia group (mean difference 1.71, standard error [SE] 0.14, P<0.001, while no such difference was observed between the illiterate group and the literate group (mean difference 0.00, SE 0.24, P=0.997. Diagnostic validity of the PCSI is excellent, with a sensitivity of 90% and a specificity of 98% for screening dementia, whereas the MMSE has a sensitivity of 85% and a specificity of 60%.Conclusion: These results indicate that the PCSI is a sensitive and reliable test for screening dementia, regardless of an individual’s literacy skills. The PCSI meets the increasing needs for screening of dementia in illiterate elderly populations in developing countries. Keywords: screening, dementia, literacy, cognition 

Computed tomographic features of afferent loop syndrome: pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Zissin, R. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Hertz, M. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Chaim Sheba Medical Center, Tel Hashomer, Tel Aviv (Israel); Paran, H. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Surgery ' A' , Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Osadchy, A. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Gayer, G. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Assaf Harofe Medical Center, Zrifin, Sackler Faculty of Medicine, Tel Aviv (Israel)

2005-04-15

This pictorial essay reviews the computed tomography (CT) findings of afferent loop syndrome (ALS) in various pathological conditions to demonstrate the contribution of a common imaging modality-that is, abdominal CT, used nowadays for various abdominal complaints-to the diagnosis of ALS. ALS is caused by obstruction of the duodenum and jejunum proximal to a gastrojejunostomy anastomosis. It is a rare complication after Billroth II subtotal gastrectomy and even more rare after total or subtotal gastrectomy with Roux-en-Y reconstruction. Although currently advanced medical treatment and endoscopic interventions have dramatically decreased the necessity of surgery for peptic ulcer disease, ALS may appear years after previously common operations. Alternatively, the use of surgical resection for early gastric cancer nowadays leads to an increasing rate of malignancy-related ALS. Clinically, ALS may be difficult to diagnose as its presentation may be vague and nonspecific, but it has a characteristic appearance on CT. Clinicians and radiologists should therefore be familiar with this rare complication. Prompt recognition and correct diagnosis of this syndrome and its probable etiology are important as a guide for treatment. This review illustrates the CT features of ALS in various conditions. (author)

Stimulus modality and working memory performance in Greek children with reading disabilities: additional evidence for the pictorial superiority hypothesis.

Science.gov (United States)

Constantinidou, Fofi; Evripidou, Christiana

2012-01-01

This study investigated the effects of stimulus presentation modality on working memory performance in children with reading disabilities (RD) and in typically developing children (TDC), all native speakers of Greek. It was hypothesized that the visual presentation of common objects would result in improved learning and recall performance as compared to the auditory presentation of stimuli. Twenty children, ages 10-12, diagnosed with RD were matched to 20 TDC age peers. The experimental tasks implemented a multitrial verbal learning paradigm incorporating three modalities: auditory, visual, and auditory plus visual. Significant group differences were noted on language, verbal and nonverbal memory, and measures of executive abilities. A mixed-model MANOVA indicated that children with RD had a slower learning curve and recalled fewer words than TDC across experimental modalities. Both groups of participants benefited from the visual presentation of objects; however, children with RD showed the greatest gains during this condition. In conclusion, working memory for common verbal items is impaired in children with RD; however, performance can be facilitated, and learning efficiency maximized, when information is presented visually. The results provide further evidence for the pictorial superiority hypothesis and the theory that pictorial presentation of verbal stimuli is adequate for dual coding.

Can a virtual supermarket bring realism into the lab? Comparing shopping behavior using virtual and pictorial store representations to behavior in a physical store

NARCIS (Netherlands)

Herpen, van Erica; Broek, van den Eva; Trijp, van Hans C.M.; Yu, Tian

2016-01-01

Immersive virtual reality techniques present new opportunities for research into consumer behavior. The current study examines whether the increased realism of a virtual store compared to pictorial (2D) stimuli elicits consumer behavior that is more in line with behavior in a physical store. We

Semantic Encoding Enhances the Pictorial Superiority Effect in the Oldest-Old

Science.gov (United States)

Cherry, Katie E.; Brown, Jennifer Silva; Walker, Erin Jackson; Smitherman, Emily A.; Boudreaux, Emily O.; Volaufova, Julia; Jazwinski, S. Michal

2011-01-01

We examined the effect of a semantic orienting task during encoding on free recall and recognition of simple line drawings and matching words in middle-aged (44 to 59 years), older (60 to 89 years), and oldest-old (90 + years) adults. Participants studied line drawings and matching words presented in blocked order. Half of the participants were given a semantic orienting task and the other half received standard intentional learning instructions. Results confirmed that the pictorial superiority effect was greater in magnitude following semantic encoding compared to the control condition. Analyses of clustering in free recall revealed that oldest-old adults’ encoding and retrieval strategies were generally similar to the two younger groups. Self-reported strategy use was less frequent among the oldest-old adults. These data strongly suggest that semantic elaboration is an effective compensatory mechanism underlying preserved episodic memory performance that persists well into the ninth decade of life. PMID:22053814

Pictorial Personality Traits Questionnaire for Children (PPTQ-C)-A New Measure of Children's Personality Traits.

Science.gov (United States)

Maćkiewicz, Marta; Cieciuch, Jan

2016-01-01

In order to adjust personality measurements to children's developmental level, we constructed the Pictorial Personality Traits Questionnaire for Children (PPTQ-C). To validate the measure, we conducted a study with a total group of 1028 children aged between 7 and 13 years old. Structural validity was established through Exploratory Structural Equation Model (ESEM). Criterion validity was confirmed with a multitrait-multimethod analysis for which we introduced the children's self-assessment scores from the Big Five Questionnaire for Children. Despite some problems with reliability, one can conclude that the PPTQ-C can be a valid instrument for measuring personality traits, particularly in a group of young children (aged ~7-10 years).

Effects of viewing ordered pictorial reminders on long-term memory in the first year of life.

Science.gov (United States)

Carver, Leslie J

2011-11-01

Previous research has shown that reminders can be effective for extending and enhancing a variety of kinds of memory in infants. We investigated the effects of viewing pictorial representations of actions that were included in imitation events used to measure long-term memory in young infants. Infants who saw the pictures of actions displayed in the order in which they comprised events showed evidence of memory for the events. Infants who saw the actions presented randomly did not. These results suggest that pictures presented during the consolidation and storage phase of memory formation can be effective reminders of events for young infants.

Concerning the chronology of Cimabue's oeuvre and the origin of pictorial depth in Italian painting of the later middle ages

Directory of Open Access Journals (Sweden)

Polzer Joseph

2002-01-01

Full Text Available A study devoted to the gradual emergence of pictorial depth in Cimabue's paintings, and how it applies, together with other factors, to the understanding of their sequential chronology. The conclusions reached underscore the vast difference in Cimabue 's conservative art and the exceptional naturalism of the evolving Life of Saint Francis mural cycle lining the lower nave walls in the upper church of San Francesco at Assisi.

Coagulation factor VII variants resistant to inhibitory antibodies.

Science.gov (United States)

Branchini, Alessio; Baroni, Marcello; Pfeiffer, Caroline; Batorova, Angelika; Giansily-Blaizot, Muriel; Schved, Jean F; Mariani, Guglielmo; Bernardi, Francesco; Pinotti, Mirko

2014-11-01

Replacement therapy is currently used to prevent and treat bleeding episodes in coagulation factor deficiencies. However, structural differences between the endogenous and therapeutic proteins might increase the risk for immune complications. This study was aimed at identifying factor (F)VII variants resistant to inhibitory antibodies developed after treatment with recombinant activated factor VII (rFVIIa) in a FVII-deficient patient homozygous for the p.A354V-p.P464Hfs mutation, which predicts trace levels of an elongated FVII variant in plasma. We performed fluorescent bead-based binding, ELISA-based competition as well as fluorogenic functional (activated FX and thrombin generation) assays in plasma and with recombinant proteins. We found that antibodies displayed higher affinity for the active than for the zymogen FVII (half-maximal binding at 0.54 ± 0.04 and 0.78 ± 0.07 BU/ml, respectively), and inhibited the coagulation initiation phase with a second-order kinetics. Isotypic analysis showed a polyclonal response with a large predominance of IgG1. We hypothesised that structural differences in the carboxyl-terminus between the inherited FVII and the therapeutic molecules contributed to the immune response. Intriguingly, a naturally-occurring, poorly secreted and 5-residue truncated FVII (FVII-462X) escaped inhibition. Among a series of truncated rFVII molecules, we identified a well-secreted and catalytically competent variant (rFVII-464X) with reduced binding to antibodies (half-maximal binding at 0.198 ± 0.003 BU/ml) as compared to the rFVII-wt (0.032 ± 0.002 BU/ml), which led to a 40-time reduced inhibition in activated FX generation assays. Taken together our results provide a paradigmatic example of mutation-related inhibitory antibodies, strongly support the FVII carboxyl-terminus as their main target and identify inhibitor-resistant FVII variants.

Product Variant Master as a Means to Handle Variant Design

DEFF Research Database (Denmark)

Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

1996-01-01

be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules...

Comparing Psychology Undergraduates' Performance in Probabilistic Reasoning under Verbal-Numerical and Graphical-Pictorial Problem Presentation Format: What Is the Role of Individual and Contextual Dimensions?

Science.gov (United States)

Agus, Mirian; Peró-Cebollero, Maribel; Penna, Maria Pietronilla; Guàrdia-Olmos, Joan

2015-01-01

This study aims to investigate about the existence of a graphical facilitation effect on probabilistic reasoning. Measures of undergraduates' performances on problems presented in both verbal-numerical and graphical-pictorial formats have been related to visuo-spatial and numerical prerequisites, to statistical anxiety, to attitudes towards…

THE FIRST H-BAND SPECTRUM OF THE GIANT PLANET β PICTORIS b

International Nuclear Information System (INIS)

Chilcote, Jeffrey; Fitzgerald, Michael P.; Larkin, James E.; Barman, Travis; Graham, James R.; Kalas, Paul; Macintosh, Bruce; Ingraham, Patrick; Bauman, Brian; Burrows, Adam S.; Cardwell, Andrew; Hartung, Markus; Hibon, Pascale; De Rosa, Robert J.; Dillon, Daren; Gavel, Donald; Doyon, René; Dunn, Jennifer; Erikson, Darren; Goodsell, Stephen J.

2015-01-01

Using the recently installed Gemini Planet Imager (GPI), we have obtained the first H-band spectrum of the planetary companion to the nearby young star β Pictoris. GPI is designed to image and provide low-resolution spectra of Jupiter-sized, self-luminous planetary companions around young nearby stars. These observations were taken covering the H band (1.65 μm). The spectrum has a resolving power of ∼45 and demonstrates the distinctive triangular shape of a cool substellar object with low surface gravity. Using atmospheric models, we find an effective temperature of 1600-1700 K and a surface gravity of log (g) = 3.5-4.5 (cgs units). These values agree well with ''hot-start'' predictions from planetary evolution models for a gas giant with mass between 10 and 12 M Jup and age between 10 and 20 Myr

Sobre el estado evolutivo de β Pictoris

Science.gov (United States)

Brunini, A.; Benvenuto, O. G.

Desde el descubrimiento de fuertes excesos infrarrojos en β Pictoris, esta estrella ha sido muy estudiada y es considerada candidata a poseer un sistema planetario propio. β Pic está rodeada de un disco asimétrico de polvo que se observa de canto y que esta vacío a distancias de la presencia de (al menos) un planeta gigante. Recientemente se han observado líneas de material circunestelar que se han interpretado como consecuencia de la caída de objetos cometarios sobre esta estrella. Recientemente se ha utilizado la existencia del disco de polvo para atribuir una edad corta (pre - secuencia principal) a βPic. Sin embargo, la evaporación de estos cometas provee suficiente polvo como para explicar la presencia del disco observado sin necesidad de edades cortas. En este trabajo mostramos que la comparación entre la tasa de impactos cometarios estimada en el Sistema Solar para diferentes etapas de su evolución y los datos observados en β Pic indica edades avanzadas para β Pic. Esta estimación debe tomarse con cautela ya que depende de la estructura de los sistemas planetarios. Además mostramos que, desde el punto de vista de la evolución estelar y con las incertezas presentes en la luminosidad y la temperatura efectiva, existe un continuo de edades posible para β Pic. Sin embargo, empleando los datos provenientes de los flujos cometarios encontramos que una edad prolongada es consistente con ambos tratamientos.

A study of concept-based similarity approaches for recommending program examples

Science.gov (United States)

Hosseini, Roya; Brusilovsky, Peter

2017-07-01

This paper investigates a range of concept-based example recommendation approaches that we developed to provide example-based problem-solving support in the domain of programming. The goal of these approaches is to offer students a set of most relevant remedial examples when they have trouble solving a code comprehension problem where students examine a program code to determine its output or the final value of a variable. In this paper, we use the ideas of semantic-level similarity-based linking developed in the area of intelligent hypertext to generate examples for the given problem. To determine the best-performing approach, we explored two groups of similarity approaches for selecting examples: non-structural approaches focusing on examples that are similar to the problem in terms of concept coverage and structural approaches focusing on examples that are similar to the problem by the structure of the content. We also explored the value of personalized example recommendation based on student's knowledge levels and learning goal of the exercise. The paper presents concept-based similarity approaches that we developed, explains the data collection studies and reports the result of comparative analysis. The results of our analysis showed better ranking performance of the personalized structural variant of cosine similarity approach.

Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

Science.gov (United States)

Rosenthal, E T; Bowles, K R; Pruss, D; van Kan, A; Vail, P J; McElroy, H; Wenstrup, R J

2015-12-01

Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absence of additional data. However, our laboratory has identified a subset of such variants in hereditary cancer genes for which compelling contradictory evidence emerged after the initial evaluation following the first observation of the variant. Three representative examples of variants in BRCA1, BRCA2 and MSH2 that are predicted to disrupt splicing, prematurely truncate the protein, or remove the start codon were evaluated for pathogenicity by analyzing clinical data with multiple classification algorithms. Available clinical data for all three variants contradicts the expected pathogenic classification. These variants illustrate potential pitfalls associated with standard approaches to variant classification as well as the challenges associated with monitoring data, updating classifications, and reporting potentially contradictory interpretations to the clinicians responsible for translating test outcomes to appropriate clinical action. It is important to address these challenges now as the model for clinical testing moves toward the use of large multi-gene panels and whole exome/genome analysis, which will dramatically increase the number of genetic variants identified. © 2015 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Utility of 64 Channel Multidetector CT Angiography for Evaluating the Renal Vascular Anatomy and Possible Variations: a Pictorial Essay

Energy Technology Data Exchange (ETDEWEB)

Kumar, Sheo; Neyaz, Zafar; Gupta, Archna [Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow (India)

2010-06-15

The increased use of laparoscopic nephrectomy and nephron-sparing surgery has prompted the need for a more detailed radiological evaluation of the renal vascular anatomy. Multidetector CT angiography is a fast and accurate modality for assessing the precise anatomy of the renal vessels. In this pictorial review, we present the multidetector CT angiography appearances of the normal renal vascular anatomy and a spectrum of various anomalies that require accurate vascular depiction before undergoing surgical treatment.

The utility of 64 channel multidetector CT angiography for evaluating the renal vascular anatomy and possible variations: a pictorial essay.

Science.gov (United States)

Kumar, Sheo; Neyaz, Zafar; Gupta, Archna

2010-01-01

The increased use of laparoscopic nephrectomy and nephron-sparing surgery has prompted the need for a more detailed radiological evaluation of the renal vascular anatomy. Multidetector CT angiography is a fast and accurate modality for assessing the precise anatomy of the renal vessels. In this pictorial review, we present the multidetector CT angiography appearances of the normal renal vascular anatomy and a spectrum of various anomalies that require accurate vascular depiction before undergoing surgical treatment.

The Utility of 64 Channel Multidetector CT Angiography for Evaluating the Renal Vascular Anatomy and Possible Variations: a Pictorial Essay

International Nuclear Information System (INIS)

Kumar, Sheo; Neyaz, Zafar; Gupta, Archna

2010-01-01

The increased use of laparoscopic nephrectomy and nephron-sparing surgery has prompted the need for a more detailed radiological evaluation of the renal vascular anatomy. Multidetector CT angiography is a fast and accurate modality for assessing the precise anatomy of the renal vessels. In this pictorial review, we present the multidetector CT angiography appearances of the normal renal vascular anatomy and a spectrum of various anomalies that require accurate vascular depiction before undergoing surgical treatment

Hairy cell leukemia-variant

International Nuclear Information System (INIS)

Quadri, Mohammad I.; Al-Sheikh, Iman H.

2001-01-01

Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x10 9/l with 97% being abnormal lymphoid cells with cytoplasmic projections. The morphology, cytochemistry, and immunophenotype of the lymphoid cells were classical of hairy cell leukaemia variant. The bone marrow was easily aspirated and findings were consistent with hairy cell leukaemia variant. (author)

Estimating the total number of susceptibility variants underlying complex diseases from genome-wide association studies.

Directory of Open Access Journals (Sweden)

Hon-Cheong So

2010-11-01

Full Text Available Recently genome-wide association studies (GWAS have identified numerous susceptibility variants for complex diseases. In this study we proposed several approaches to estimate the total number of variants underlying these diseases. We assume that the variance explained by genetic markers (Vg follow an exponential distribution, which is justified by previous studies on theories of adaptation. Our aim is to fit the observed distribution of Vg from GWAS to its theoretical distribution. The number of variants is obtained by the heritability divided by the estimated mean of the exponential distribution. In practice, due to limited sample sizes, there is insufficient power to detect variants with small effects. Therefore the power was taken into account in fitting. Besides considering the most significant variants, we also tried to relax the significance threshold, allowing more markers to be fitted. The effects of false positive variants were removed by considering the local false discovery rates. In addition, we developed an alternative approach by directly fitting the z-statistics from GWAS to its theoretical distribution. In all cases, the "winner's curse" effect was corrected analytically. Confidence intervals were also derived. Simulations were performed to compare and verify the performance of different estimators (which incorporates various means of winner's curse correction and the coverage of the proposed analytic confidence intervals. Our methodology only requires summary statistics and is able to handle both binary and continuous traits. Finally we applied the methods to a few real disease examples (lipid traits, type 2 diabetes and Crohn's disease and estimated that hundreds to nearly a thousand variants underlie these traits.

Development of Two-Tier Diagnostic Test Pictorial-Based for Identifying High School Students Misconceptions on the Mole Concept

Science.gov (United States)

Siswaningsih, W.; Firman, H.; Zackiyah; Khoirunnisa, A.

2017-02-01

The aim of this study was to develop the two-tier pictorial-based diagnostic test for identifying student misconceptions on mole concept. The method of this study is used development and validation. The development of the test Obtained through four phases, development of any items, validation, determination key, and application test. Test was developed in the form of pictorial consisting of two tier, the first tier Consist of four possible answers and the second tier Consist of four possible reasons. Based on the results of content validity of 20 items using the CVR (Content Validity Ratio), a number of 18 items declared valid. Based on the results of the reliability test using SPSS, Obtained 17 items with Cronbach’s Alpha value of 0703, the which means that items have accepted. A total of 10 items was conducted to 35 students of senior high school students who have studied the mole concept on one of the high schools in Cimahi. Based on the results of the application test, student misconceptions were identified in each label concept in mole concept with the percentage of misconceptions on the label concept of mole (60.15%), Avogadro’s number (34.28%), relative atomic mass (62, 84%), relative molecule mass (77.08%), molar mass (68.53%), molar volume of gas (57.11%), molarity (71.32%), chemical equation (82.77%), limiting reactants (91.40%), and molecular formula (77.13%).

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

DEFF Research Database (Denmark)

Ahlborn, Lise B; Dandanell, Mette; Steffensen, Ane Y

2015-01-01

by functional analysis at the protein level. Results from a validated mini-gene splicing assay indicated that nine BRCA1 variants resulted in splicing aberrations leading to truncated transcripts and thus can be considered pathogenic (c.4987A>T/p.Met1663Leu, c.4988T>A/p.Met1663Lys, c.5072C>T/p.Thr1691Ile, c......Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently...... needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1 variants by in silico splicing analysis and mini-gene splicing assay. All 14 alterations were missense variants located within the BRCT domain of BRCA1 and had previously been examined...

Evaluation of thymic tumors with 18F-FDG PET-CT - A pictorial review

International Nuclear Information System (INIS)

Sharma, Punit; Singhal, Abhinav; Bal, Chandrasekhar; Malhotra, Arun; Kumar, Rakesh; Kumar, Arvind

2013-01-01

Thymic tumors represent a broad spectrum of neoplastic disorders and pose considerable diagnostic difficulties. A non-invasive imaging study to determine the nature of thymic lesions can have significant impact on management of such tumors. 18F-flurorodeoxyglucose (18F-FDG) positron emission tomography-computed tomography (PET-CT) has shown promising results in characterization of thymic tumors. The objective of this article is to provide an illustrative tutorial highlighting the clinical utility of 18F-FDG PET-CT imaging in patients with thymic tumors. We have pictorially depicted the 18F-FDG PET-CT salient imaging characteristics of various thymic tumors, both epithelial and non-epithelial. Also discussed is the dynamic physiology of thymus gland which is to be kept in mind when evaluating thymic pathology on 18F-FDG PET-CT, as it can lead to interpretative pitfalls

Magnetic resonance imaging of the wrist in early rheumatoid arthritis: a pictorial essay

International Nuclear Information System (INIS)

Stewart, N.R.; Crabbe, J.P.; McQueen, F.M.

2001-01-01

This pictorial essay describes the changes seen in the wrist in early rheumatoid arthritis (RA) on MRI. Magnetic resonance imaging can demonstrate bone erosions, bone marrow signal changes, synovitis and tenosynovitis in early rheumatoid arthritis. Magnetic resonance imaging of the wrist can identify erosions in RA earlier than plain radiographs and can detect more erosions. Common sites include the capitate, lunate and scaphoid. Bone marrow signal changes occur frequently and are most common in the capitate, lunate and triquetrum. Synovial thickening and enhancement are clearly demonstrated with MRI and are most commonly seen in the radiocarpal joint (RCJ). Tenosynovitis can be seen in the wrist in more than half of patients presenting with RA. This most commonly involves the extensor carpi ulnaris tendon and is seen as sheath fluid, thickening and enhancement. Copyright (2001) Blackwell Science Pty Ltd

A Comparative Study of the Effectiveness of Two Strategies of Etymological Elaboration and Pictorial Elucidation on Idiom Learning: A Case of Young EFL Iranian Learners

Science.gov (United States)

Haghshenas, Mahsa Sadat Mousavi; Hashemian, Mahmood

2016-01-01

This study examined the effect of etymological elaboration, pictorial elucidation, and integration of these 2 strategies on idiom learning by L2 learners. A total number of 80 homogeneous intermediate learners studying English at 3 language institutes in Isfahan, Iran, were selected. The intermediate participants were selected as the result of…

Hacia el consumo informado de tabaco en México: efecto de las advertencias con pictogramas en población fumadora Towards informed tobacco consumption in Mexico: effect of pictorial warning labels in smokers

Directory of Open Access Journals (Sweden)

James F Thrasher

2012-06-01

Full Text Available OBJETIVO: Evaluar el efecto de las advertencias sanitarias (AS con pictogramas en las cajetillas de tabaco en adultos fumadores. MATERIAL Y MÉTODOS: Cohorte de fumadores con representatividad poblacional de siete ciudades mexicanas, antes (2010 y después (2011 de la implementación de AS con pictogramas (ASP. Para determinar el cambio en las variables sobre el impacto cognitivo y conductual de las advertencias, se estimaron modelos bivariados y ajustados de ecuaciones de estimación generalizada. En el segundo levantamiento (2011, se estimaron modelos para determinar los factores que se asocian con el reporte de recordar cada advertencia que había entrado al mercado, además de los factores asociados con el autorreporte del impacto de cada advertencia vigente. RESULTADOS: Se observaron incrementos importantes de 2010 a 2011 en los conocimientos sobre los riesgos de fumar, los componentes tóxicos del tabaco y el número telefónico para recibir consejos sobre dejar de fumar. La recordación e impacto de las primeras advertencias con pictogramas parecen ser amplios y equitativos a través de la población fumadora. En comparación con 2010, un mayor nivel de ex fumadores entrevistados en 2011 reportaron que las advertencias habían influido mucho en dejar de fumar (RM=2.44, 95% IC 1.27-4.72. CONCLUSIONES: Las AS con pictogramas han logrado un impacto importante en el conocimiento y conducta, información relevante para la población y en tomadores de decisiones.OBJECTIVE: Evaluate the effect of the first pictorial warning labels on cigarette packs in Mexican smokers. MATERIALS AND METHODS: A population-based representative cohort of smokers from seven Mexican cities was surveyed before (2010 and after (2011 the implementation of pictorial warning labels. To determine the change variables representing the cognitive and behavioral impact of pictorial warnings, bivariate and adjusted generalized estimating equations were estimated. Data from the

THE EFFECT OF THE PICTORIAL NUMERIC CARD MEDIA TOWARD IMPROVEMENT OF THE SUMMATION COMPUTATION ABILITY FOR STUDENT WITH INTELLECTUAL DISSABILITY

OpenAIRE

Isna Nur Hikmah; Usep Kustiawan

2016-01-01

The reseach’s purpose was to analyze the effect of picture numeric card media toward improvement of the summation computation ability for student with intellectual disability of grade IV in SDLB. Data collected was analyzed with experiment technique and single subject research A-B design. Research result showed that: after being analyzed between condition overlap persentase was 0%. Thus, it could be concluded that there was effect of pictorial numeric card media toward summation computation a...

A pictorial presentation of 3.0 Chicago Classification for esophageal motility disorders.

Science.gov (United States)

Herbella, Fernando Augusto; Armijo, Priscila Rodrigues; Patti, Marco Giuseppe

2016-01-01

High resolution manometry changed several esophageal motility paradigms. The 3.0 Chicago Classification defined manometric criteria for named esophageal motility disorders. We present a pictorial atlas of motility disorders. Achalasia types, esophagogastric junction obstruction, absent contractility, distal esophageal spasm, hypercontractile esophagus (jackhammer), ineffective esophageal motility, and fragmented peristalsis are depicted with high-resolution manometry plots. RESUMO A manometria de alta resolução mudou vários paradigmas da motilidade digestiva. A Classificação de Chicago, na versão 3.0, definiu critérios manométricos para as doenças da motilidade esofagiana. O presente artigo é um atlas das dismotilidades descritas. Tipos de acalásia, obstrução ao nível da junção esofagogástrica, contrações ausentes, espasmo esofagiano distal, esôfago hipercontrátil, motilidade esofagiana ineficaz e peristalse fragmentada são mostradas em traçados de manometria de alta resolução.

Effects of Spatial Ability, Gender Differences, and Pictorial Training on Children Using 2-D and 3-D Environments to Recall Landmark Locations from Memory

Science.gov (United States)

Kopcha, Theodore J.; Otumfuor, Beryl A.; Wang, Lu

2015-01-01

This study examines the effects of spatial ability, gender differences, and pictorial training on fourth grade students' ability to recall landmark locations from memory. Ninety-six students used Google Earth over a 3-week period to locate landmarks (3-D) and mark their location on a 2-D topographical map. Analysis of covariance on posttest scores…

eCD4-Ig variants that more potently neutralize HIV-1.

Science.gov (United States)

Fetzer, Ina; Gardner, Matthew R; Davis-Gardner, Meredith E; Prasad, Neha R; Alfant, Barnett; Weber, Jesse A; Farzan, Michael

2018-03-28

utility of antibodies as a treatment for HIV-1 infection or part of an effort to eradicate latently infected cells. eCD4-Ig is an antibody-like entry inhibitor that closely mimics HIV-1's obligate receptors. eCD4-Ig appears to be qualitatively different from antibodies since it neutralizes all HIV-1, HIV-2, and SIV isolates. Here we characterize three new structurally distinct eCD4-Ig variants, and show that each excels in a key property useful to prevent, treat or cure an HIV-1 infection. For example, one variant neutralized HIV-1 most efficiently, while others best enlisted natural killer cells to eliminate infected cells. These observations will help generate eCD4-Ig variants optimized for different clinical applications. Copyright © 2018 American Society for Microbiology.

A rabies virus vampire bat variant shows increased neuroinvasiveness in mice when compared to a carnivore variant.

Science.gov (United States)

Mesquita, Leonardo Pereira; Gamon, Thais Helena Martins; Cuevas, Silvia Elena Campusano; Asano, Karen Miyuki; Fahl, Willian de Oliveira; Iamamoto, Keila; Scheffer, Karin Correa; Achkar, Samira Maria; Zanatto, Dennis Albert; Mori, Cláudia Madalena Cabrera; Maiorka, Paulo César; Mori, Enio

2017-12-01

Rabies is one of the most important zoonotic diseases and is caused by several rabies virus (RABV) variants. These variants can exhibit differences in neurovirulence, and few studies have attempted to evaluate the neuroinvasiveness of variants derived from vampire bats and wild carnivores. The aim of this study was to evaluate the neuropathogenesis of infection with two Brazilian RABV street variants (variant 3 and crab-eating fox) in mice. BALB/c mice were inoculated with RABV through the footpad, with the 50% mouse lethal dose (LD 50 ) determined by intracranial inoculation. The morbidity of rabies in mice infected with variant 3 and the crab-eating fox strain was 100% and 50%, respectively, with an incubation period of 7 and 6 days post-inoculation (dpi), respectively. The clinical disease in mice was similar with both strains, and it was characterized initially by weight loss, ruffled fur, hunched posture, and hind limb paralysis progressing to quadriplegia and recumbency at 9 to 12 dpi. Histological lesions within the central nervous system (CNS) characterized by nonsuppurative encephalomyelitis with neuronal degeneration and necrosis were observed in mice infected with variant 3 and those infected with the crab-eating fox variant. However, lesions and the presence of RABV antigen, were more widespread within the CNS of variant-3-infected mice, whereas in crab-eating fox-variant-infected mice, RABV antigens were more restricted to caudal areas of the CNS, such as the spinal cord and brainstem. In conclusion, the results shown here demonstrate that the RABV vampire bat strain (variant 3) has a higher potential for neuroinvasiveness than the carnivore variant.

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding.

Science.gov (United States)

Silla, Toomas; Kepp, Katrin; Tai, E Shyong; Goh, Liang; Davila, Sonia; Catela Ivkovic, Tina; Calin, George A; Voorhoeve, P Mathijs

2014-01-01

Ultra-conserved genes or elements (UCGs/UCEs) in the human genome are extreme examples of conservation. We characterized natural variations in 2884 UCEs and UCGs in two distinct populations; Singaporean Chinese (n = 280) and Italian (n = 501) by using a pooled sample, targeted capture, sequencing approach. We identify, with high confidence, in these regions the abundance of rare SNVs (MAFpower for association studies. By combining our data with 1000 Genome Project data, we show in three independent datasets that prevalent UCE variants (MAF>5%) are more often found in relatively less-conserved nucleotides within UCEs, compared to rare variants. Moreover, prevalent variants are less likely to overlap transcription factor binding site. Using SNPfold we found no significant influence of RNA secondary structure on UCE conservation. All together, these results suggest UCEs are not under selective pressure as a stretch of DNA but are under differential evolutionary pressure on the single nucleotide level.

Molecular Gas Clumps from the Destruction of Icy Bodies in the beta Pictoris Debris Disk

Science.gov (United States)

Dent, W. R. F.; Wyatt, M. C.; Roberge, A.; Augereau, J. -C.; Casassus, S.; Corder, S.; Greaves, J. S.; DeGregorio-Monsalvo, I.; Hales, A.; Jackson, A. P.;

Leishmaniasis direct agglutination test: using pictorials as training materials to reduce inter-reader variability and improve accuracy.

Directory of Open Access Journals (Sweden)

Emily R Adams

Full Text Available BACKGROUND: The Direct Agglutination Test (DAT has a high diagnostic accuracy and remains, in some geographical areas, part of the diagnostic algorithm for Visceral Leishmaniasis (VL. However, subjective interpretation of results introduces potential for inter-reader variation. We report an assessment of inter-laboratory agreement and propose a pictorial-based approach to standardize reading of the DAT. METHODOLOGY: In preparation for a comparative evaluation of immunochromatographic diagnostics for VL, a proficiency panel of 15 well-characterized sera, DAT-antigen from a single batch and common protocol was sent to nine laboratories in Latin-America, East-Africa and Asia. Agreement (i.e., equal titre or within 1 titer with the reading by the reference laboratory was computed. Due to significant inter-laboratory disagreement on-site refresher training was provided to all technicians performing DAT. Photos of training plates were made, and end-titres agreed upon by experienced users of DAT within the Visceral-Leishmaniasis Laboratory-Network (VL-LN. RESULTS: Pre-training, concordance in DAT results with reference laboratories was only 50%, although agreement on negative sera was high (94%. After refresher training concordance increased to 84%; agreement on negative controls increased to 98%. Variance in readings significantly decreased after training from 3.3 titres to an average of 1.0 titre (two-sample Wilcoxon rank-sum (Mann-Whitney test (z = -3,624 and p = 0.0003. CONCLUSION: The most probable explanation for disagreement was subjective endpoint reading. Using pictorials as training materials may be a useful tool to reduce disparity in results and promote more standardized reading of DAT, without compromising diagnostic sensitivity.

Comparative analysis of objective techniques for criteria weighing in two MCDM methods on example of an air conditioner selection

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Vujičić Momčilo D.

2017-01-01

Full Text Available This paper deals with comparative analysis of two different types of objective techniques for criteria weighing: Entropy and CRITIC and two MCDM methods: MOORA and SAW on example of an air conditioner selection. We used six variants for calculation of normalized performance ratings. Results showed that the decision of the best air conditioner was basically independent of the MCDM method used, despite the applied technique for determination of criteria weights. Complete ranking within all of the combinations of methods and techniques with diverse ratio calculation variants showed that the best ranked air conditioner was A7, while the worst ones were A5 and A9. Significant positive correlation was obtained for almost all the pairs of variants in all the combinations except for the MOORA - CRITIC combination with SAW - Entropy combination to have the highest correlations between variants (p < 0.01.

Variants of cellobiohydrolases

Energy Technology Data Exchange (ETDEWEB)

Bott, Richard R.; Foukaraki, Maria; Hommes, Ronaldus Wilhelmus; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Nikolaev, Igor; Sandgren, Mats; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

2018-04-10

Disclosed are a number of homologs and variants of Hypocrea jecorina Ce17A (formerly Trichoderma reesei cellobiohydrolase I or CBH1), nucleic acids encoding the same and methods for producing the same. The homologs and variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted and/or deleted.

Magnetic resonance imaging of the growth plate: pictorial essay

International Nuclear Information System (INIS)

Cairns, R.

2003-01-01

The approach to musculoskeletal magnetic resonance imaging (MRI) is very different in children than adults because of different disease processes, immature structures and the variable size and age of the patients. Use of routine adult musculoskeletal protocols and techniques may not provide sufficient information in children, and most pediatric examinations should be customized to specifically address the child's age and clinical problem. This pictorial essay will illustrate MRI of the growth plate - often an area of uncertainty or error for radiologists who infrequently perform musculoskeletal MRI on children. The growth plate or physis is a structure unique to the growing skeleton. It is a cartilaginous zone located between the epiphysis and the metaphysis that functions to provide longitudinal bone growth. Disturbance of physeal growth as a result of trauma, infection, tumour, ischemia or radiation can result in leg length discrepancy, angular deformity or altered joint mechanics and cause significant long-term disability. MRI can directly image cartilaginous structures and has thus become the imaging method of choice for evaluation of the growth plate. An understanding of the normal and abnormal appearance of growth cartilage and of MRI protocols optimized for imaging the growth plate, combined with an approach to risk assessment for the development of significant growth deformity, is needed to confidently image the growth plate and help direct the management of these patients. (author)

Bone tumor mimickers: A pictorial essay

International Nuclear Information System (INIS)

Mhuircheartaigh, Jennifer Ni; Lin, Yu-Ching; Wu, Jim S

2014-01-01

Focal lesions in bone are very common and many of these lesions are not bone tumors. These bone tumor mimickers can include numerous normal anatomic variants and non-neoplastic processes. Many of these tumor mimickers can be left alone, while others can be due to a significant disease process. It is important for the radiologist and clinician to be aware of these bone tumor mimickers and understand the characteristic features which allow discrimination between them and true neoplasms in order to avoid unnecessary additional workup. Knowing which lesions to leave alone or which ones require workup can prevent misdiagnosis and reduce patient anxiety

CP trajectory diagram--a tool for a pictorial representation of CP and matter effects in neutrino oscillations

International Nuclear Information System (INIS)

Minakata, Hisakazu; Nunokawa, Hiroshi

2003-01-01

We introduce a 'CP trajectory diagram in bi-probability space' as a powerful tool for a pictorial representation of the genuine CP and the matter effects in neutrino oscillations. The existence of correlated ambiguity in the determination of CP-violating phase δ and the sign of Δm 13 2 is uncovered. The principles of tuning the beam energy for a given baseline distance are proposed to resolve the ambiguity and to maximize the CP-odd effect. We finally point out, quite contrary to what is usually believed, that the ambiguity may be resolved with ∼50% chance in the super-JHF experiment despite its relatively short baseline of 300 km

Common Genetic Variants Found in HLA and KIR Immune Genes in Autism Spectrum Disorder

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Anthony R Torres

2016-10-01

Full Text Available The common variant - common disease hypothesis was proposed to explain diseases with strong inheritance. This model suggests that a genetic disease is the result of the combination of several common genetic variants. Common genetic variants are described as a 5% frequency differential between diseased versus matched control populations. This theory was recently supported by an epidemiology paper stating that about 50% of genetic risk for autism resides in common variants. However, rare variants, rather than common variants, have been found in numerous genome wide genetic studies and many have concluded that the common variant—common disease hypothesis is incorrect. One interpretation is that rare variants are major contributors to genetic diseases and autism involves the interaction of many rare variants, especially in the brain. It is obvious there is much yet to be learned about autism genetics.Evidence has been mounting over the years indicating immune involvement in autism, particularly the HLA genes on chromosome 6 and KIR genes on chromosome 19. These two large multigene complexes have important immune functions and have been shown to interact to eliminate unwanted virally infected and malignant cells. HLA proteins have important functions in antigen presentation in adaptive immunity and specific epitopes on HLA class I proteins act as cognate ligands for KIR receptors in innate immunity. Data suggests that HLA alleles and KIR activating genes/haplotypes are common variants in different autism populations. For example, class I allele (HLA-A2 and HLA-G 14bp-indel frequencies are significantly increased by more than 5% over control populations (Table2. The HLA-DR4 Class II and shared epitope frequencies are significantly above the control populations (Table 2. Three activating KIR genes: 3DS1, 2DS1 and 2DS2 have increased frequencies of 15%, 22% and 14% in autism populations, respectively. There is a 6% increase in total activating KIR

THE EFFECT OF THE PICTORIAL NUMERIC CARD MEDIA TOWARD IMPROVEMENT OF THE SUMMATION COMPUTATION ABILITY FOR STUDENT WITH INTELLECTUAL DISSABILITY

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Isna Nur Hikmah

2016-12-01

Full Text Available The reseach’s purpose was to analyze the effect of picture numeric card media toward improvement of the summation computation ability for student with intellectual disability of grade IV in SDLB. Data collected was analyzed with experiment technique and single subject research A-B design. Research result showed that: after being analyzed between condition overlap persentase was 0%. Thus, it could be concluded that there was effect of pictorial numeric card media toward summation computation ability of student with intellectual disability

Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

Science.gov (United States)

Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

2017-03-01

Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

Variants of Moreau's sweeping process

International Nuclear Information System (INIS)

Siddiqi, A.H.; Manchanda, P.

2001-07-01

In this paper we prove the existence and uniqueness of two variants of Moreau's sweeping process -u'(t) is an element of Nc (t) (u(t)), where in one variant we replace u(t) by u'(t) in the right-hand side of the inclusion and in the second variant u'(t) and u(t) are respectively replaced by u''(t) and u'(t). (author)

Characterization of form variants of Xenorhabdus luminescens.

Science.gov (United States)

Gerritsen, L J; de Raay, G; Smits, P H

1992-01-01

From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in pigmentation and uptake of dye. Of the two other variants, one produced a yellow pigment and fewer antibiotics (XE-yellow), while the other did not produce a pigment or antibiotics (XE-white). Both were less luminescent, did not take up dye, and had small cell and colony sizes. These two variants were very unstable and shifted to the primary form after 3 to 5 days. It was not possible to separate the primary form and the white variant completely; subcultures of one colony always contained a few colonies of the other variant. The white variant was also found in several other X. luminescens strains. DNA fingerprints showed that all four variants are genetically identical and are therefore derivatives of the same parent. Protein patterns revealed a few differences among the four variants. None of the variants could be considered the secondary form. The pathogenicity of the variants decreased in the following order: XE-red, XE-pink, XE-yellow, and XE-white. The mechanism and function of this variability are discussed. Images PMID:1622273

Random Plant Viral Variants Attain Temporal Advantages During Systemic Infections and in Turn Resist other Variants of the Same Virus.

Science.gov (United States)

Zhang, Xiao-Feng; Guo, Jiangbo; Zhang, Xiuchun; Meulia, Tea; Paul, Pierce; Madden, Laurence V; Li, Dawei; Qu, Feng

2015-10-20

Infection of plants with viruses containing multiple variants frequently leads to dominance by a few random variants in the systemically infected leaves (SLs), for which a plausible explanation is lacking. We show here that SL dominance by a given viral variant is adequately explained by its fortuitous lead in systemic spread, coupled with its resistance to superinfection by other variants. We analyzed the fate of a multi-variant turnip crinkle virus (TCV) population in Arabidopsis and N. benthamiana plants. Both wild-type and RNA silencing-defective plants displayed a similar pattern of random dominance by a few variant genotypes, thus discounting a prominent role for RNA silencing. When introduced to plants sequentially as two subpopulations, a twelve-hour head-start was sufficient for the first set to dominate. Finally, SLs of TCV-infected plants became highly resistant to secondary invasions of another TCV variant. We propose that random distribution of variant foci on inoculated leaves allows different variants to lead systemic movement in different plants. The leading variants then colonize large areas of SLs, and resist the superinfection of lagging variants in the same areas. In conclusion, superinfection resistance is the primary driver of random enrichment of viral variants in systemically infected plants.

CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity.

Science.gov (United States)

Sata, F; Sapone, A; Elizondo, G; Stocker, P; Miller, V P; Zheng, W; Raunio, H; Crespi, C L; Gonzalez, F J

2000-01-01

To determine the existence of mutant and variant CgammaP3A4 alleles in three racial groups and to assess functions of the variant alleles by complementary deoxyribonucleic acid (cDNA) expression. A bacterial artificial chromosome that contains the complete CgammaP3A4 gene was isolated and the exons and surrounding introns were directly sequenced to develop primers to polymerase chain reaction (PCR) amplify and sequence the gene from lymphocyte DNA. DNA samples from Chinese, black, and white subjects were screened. Mutating the affected amino acid in the wild-type cDNA and expressing the variant enzyme with use of the baculovirus system was used to functionally evaluate the variant allele having a missense mutation. To investigate the existence of mutant and variant CgammaP3A4 alleles in humans, all 13 exons and the 5'-flanking region of the human CgammaP3A4 gene in three racial groups were sequenced and four alleles were identified. An A-->G point mutation in the 5'-flanking region of the human CgammaP3A4 gene, designated CgammaP3A4*1B, was found in the three different racial groups. The frequency of this allele in a white population was 4.2%, whereas it was 66.7% in black subjects. The CgammaP3A4*1B allele was not found in Chinese subjects. A second variant allele, designated CgammaP3A4*2, having a Ser222Pro change, was found at a frequency of 2.7% in the white population and was absent in the black subjects and Chinese subjects analyzed. Baculovirus-directed cDNA expression revealed that the CYP3A4*2 P450 had a lower intrinsic clearance for the CYP3A4 substrate nifedipine compared with the wild-type enzyme but was not significantly different from the wild-type enzyme for testosterone 6beta-hydroxylation. Another rare allele, designated CgammaP3A4*3, was found in a single Chinese subject who had a Met445Thr change in the conserved heme-binding region of the P450. These are the first examples of potential function polymorphisms resulting from missense mutations in

Food-related attentional bias. Word versus pictorial stimuli and the importance of stimuli calorific value in the dot probe task.

Science.gov (United States)

Freijy, Tanya; Mullan, Barbara; Sharpe, Louise

2014-12-01

The primary aim of this study was to extend previous research on food-related attentional biases by examining biases towards pictorial versus word stimuli, and foods of high versus low calorific value. It was expected that participants would demonstrate greater biases to pictures over words, and to high-calorie over low-calorie foods. A secondary aim was to examine associations between BMI, dietary restraint, external eating and attentional biases. It was expected that high scores on these individual difference variables would be associated with a bias towards high-calorie stimuli. Undergraduates (N = 99) completed a dot probe task including matched word and pictorial food stimuli in a controlled setting. Questionnaires assessing eating behaviour were administered, and height and weight were measured. Contrary to predictions, there were no main effects for stimuli type (pictures vs words) or calorific value (high vs low). There was, however, a significant interaction effect suggesting a bias towards high-calorie pictures, but away from high-calorie words; and a bias towards low-calorie words, but away from low-calorie pictures. No associations between attentional bias and any of the individual difference variables were found. The presence of a stimulus type by calorific value interaction demonstrates the importance of stimuli type in the dot probe task, and may help to explain inconsistencies in prior research. Further research is needed to clarify associations between attentional bias and BMI, restraint, and external eating. Copyright © 2014 Elsevier Ltd. All rights reserved.

Semantic prioritization of novel causative genomic variants

KAUST Repository

Boudellioua, Imene

2017-04-17

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

Semantic prioritization of novel causative genomic variants

KAUST Repository

Boudellioua, Imene; Mohamad Razali, Rozaimi; Kulmanov, Maxat; Hashish, Yasmeen; Bajic, Vladimir B.; Goncalves-Serra, Eva; Schoenmakers, Nadia; Gkoutos, Georgios V.; Schofield, Paul N.; Hoehndorf, Robert

2017-01-01

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

A comparative analysis of VIKOR method and its variants

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Prasenjit Chatterjee

2016-09-01

Full Text Available The VIKOR (Vlse Kriterijumska Optimizacija Kompromisno Resenje which means multi-criteria optimization and compromise solution, in Serbian method has already become a quite popular multi-criteria decision making tool for its computational simplicity and solution accuracy. This method focuses on selecting and ranking from a set of feasible alternatives, and determines compromise solution for a problem with conflicting criteria to help the decision maker in reaching a final course of action. It determines the compromise ranking list based on the particular measure of closeness to the ideal solution. Depending upon the type of decision problem and necessity of the decision maker, apart from VIKOR method, different variants of it, like comprehensive VIKOR, fuzzy VIKOR, regret theory-based VIKOR, modified VIKOR and interval VIKOR methods have also been subsequently developed. In this paper, the ranking performance of original VIKOR method and its five variants is analyzed based on two demonstrative examples. It is observed that interval VIKOR method performs unsatisfactorily and when the information in a decision problem is imprecise, fuzzy VIKOR method should always be preferred. But, for any decision problem, original VIKOR is the best method for solution without unnecessarily complicating the related mathematical computations.

Face validity and reliability of a pictorial instrument for assessing fundamental movement skill perceived competence in young children.

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Barnett, Lisa M; Ridgers, Nicola D; Zask, Avigdor; Salmon, Jo

2015-01-01

To determine reliability and face validity of an instrument to assess young children's perceived fundamental movement skill competence. Validation and reliability study. A pictorial instrument based on the Test Gross Motor Development-2 assessed perceived locomotor (six skills) and object control (six skills) competence using the format and item structure from the physical competence subscale of the Pictorial Scale of Perceived Competence and Acceptance for Young Children. Sample 1 completed object control items in May (n=32) and locomotor items in October 2012 (n=23) at two time points seven days apart. Children were asked at the end of the test-retest their understanding of what was happening in each picture to determine face validity. Sample 2 (n=58) completed 12 items in November 2012 on a single occasion to test internal reliability only. Sample 1 children were aged 5-7 years (M=6.0, SD=0.8) at object control assessment and 5-8 years at locomotor assessment (M=6.5, SD=0.9). Sample 2 children were aged 6-8 years (M=7.2, SD=0.73). Intra-class correlations assessed in Sample 1 children were excellent for object control (intra-class correlation=0.78), locomotor (intra-class correlation=0.82) and all 12 skills (intra-class correlations=0.83). Face validity was acceptable. Internal consistency was adequate in both samples for each subscale and all 12 skills (alpha range 0.60-0.81). This study has provided preliminary evidence for instrument reliability and face validity. This enables future alignment between the measurement of perceived and actual fundamental movement skill competence in young children. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Pictorial Personality Traits Questionnaire for Children (PPTQ-C – a new measure of children’s personality traits

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Marta eMaćkiewicz

2016-04-01

Full Text Available In order to adjust personality measurements to children’s developmental level, we constructed the Pictorial Personality Traits Questionnaire for Children (PPTQ-C. To validate the measure, we conducted a study with a total group of 1028 children aged between 7 and 13 years old. Structural validity was established through Exploratory Structural Equation Model. Criterion validity was confirmed with a multitrait-multimethod analysis for which we introduced the children’s self-assessment scores from the Big Five Questionnaire for Children. Despite some problems with reliability, one can conclude that the PPTQ-C can be a valid instrument for measuring personality traits, particularly in a group of young children (aged approximately 7 to 10 years.

Swine Influenza/Variant Influenza Viruses

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... Address What's this? Submit What's this? Submit Button Influenza Types Seasonal Avian Swine Variant Pandemic Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

Renal trauma imaging: Diagnosis and management. A pictorial review

International Nuclear Information System (INIS)

Szmigielski, Wojciech; Kumar, Rajendra; Al Hilli, Shatha; Ismail, Mostafa

2013-01-01

The purpose of this review is to illustrate and discuss the spectrum of imaging findings, particularly computed tomography (CT), of blunt and penetrating renal trauma, based on our own materials, according to the American Association for Surgery of Trauma (AAST) renal injury grading scale. The article also indicates the conditions in which interventional radiology procedures can be applied for the management of renal trauma. Cases for this pictorial review were selected from the imaging material collected at the Radiology Department of Hamad Medical Corporation during a 14-year period from 1999 to 2012. The material includes 176 cases (164 males and 12 females) with confirmed blunt or penetrating renal trauma. Following abdominal trauma, all patients had a CT examination performed on admission to the hospital and/or during hospitalization. The most representative and illustrative cases of renal trauma were reviewed according to CT findings and were categorized according to the AAST grading system. The review describes a spectrum of imaging presentations with special emphasis on the 5 grades of renal injury on a CT according to the AAST scale. The most representative cases were illustrated and discussed with indications of possible interventional radiology treatment. Two groups of patients not included in the AAST grading system were presented separately: those with preexisting renal abnormalities and those with sustained iatrogenic renal injury. Proper application of renal trauma grading scale is essential for selecting the patients for conservative treatment, surgery or interventional radiology procedure

Beta-glucosidase variants and polynucleotides encoding same

Science.gov (United States)

Wogulis, Mark; Harris, Paul; Osborn, David

2017-06-27

The present invention relates to beta-glucosidase variants, e.g. beta-glucosidase variants of a parent Family GH3A beta-glucosidase from Aspergillus fumigatus. The present invention also relates to polynucleotides encoding the beta-glucosidase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the beta-glucosidase variants.

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

1987-01-01

Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

Genetic Variants in KLOTHO Associate With Cognitive Function in the Oldest Old Group

DEFF Research Database (Denmark)

Mengel-From, Jonas; Sørensen, Mette; Nygaard, Marianne

2016-01-01

, for example, growth factor signaling. In the present study, 19 tagging gene variants in KL were studied in relation to 2 measures of cognitive function, a 5-item cognitive composite score and the Mini Mental State Examination, in 1,480 Danes 92-100 years of age. We found that heterozygotes for the previously......Decline in cognitive abilities is a major concern in aging individuals. A potential important factor for functioning of the central nervous system in late-life stages is the KLOTHO (KL) gene. KL is expressed in various organs including the brain and is involved in multiple biological processes...... reported KL-VS had poorer cognitive function than noncarriers. Two other variants positioned in the 5' end of the gene, rs398655 and rs562020, were associated with better cognitive function independently of KL-VS, and the common haplotype AG was associated with poorer cognition, consistently across two...

Integral Representation of the Pictorial Proof of Sum of [superscript n][subscript k=1]k[superscript 2] = 1/6n(n+1)(2n+1)

Science.gov (United States)

Kobayashi, Yukio

2011-01-01

The pictorial proof of the sum of [superscript n][subscript k=1] k[superscript 2] = 1/6n(n+1)(2n+1) is represented in the form of an integral. The integral representations are also applicable to the sum of [superscript n][subscript k-1] k[superscript m] (m greater than or equal to 3). These representations reveal that the sum of [superscript…

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding.

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Toomas Silla

Full Text Available Ultra-conserved genes or elements (UCGs/UCEs in the human genome are extreme examples of conservation. We characterized natural variations in 2884 UCEs and UCGs in two distinct populations; Singaporean Chinese (n = 280 and Italian (n = 501 by using a pooled sample, targeted capture, sequencing approach. We identify, with high confidence, in these regions the abundance of rare SNVs (MAF5% are more often found in relatively less-conserved nucleotides within UCEs, compared to rare variants. Moreover, prevalent variants are less likely to overlap transcription factor binding site. Using SNPfold we found no significant influence of RNA secondary structure on UCE conservation. All together, these results suggest UCEs are not under selective pressure as a stretch of DNA but are under differential evolutionary pressure on the single nucleotide level.

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

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Mengmeng Du

Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

Pictorial essay: Vascular interventions in extra cranial head and neck

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Suyash S Kulkarni

2012-01-01

Full Text Available Medicine is an ever changing field and interventional radiology (IR procedures are becoming increasingly popular because of high efficacy and its minimally invasive nature of the procedure. Management of disease processes in the extra cranial head and neck (ECHN has always been a challenge due to the complex anatomy of the region. Cross sectional imaging of the ECHN has grown and evolved tremendously and occupies a pivotal and integral position in the clinical management of variety of head and neck pathologies. Advances in angiographic technologies including flat panel detector systems, biplane, and 3-dimensional rotational angiography have consolidated and expanded the role of IR in the management of various ECHN pathologies. The ECHN is at cross roads between the origins of great vessels and the cerebral vasculature. Thorough knowledge of functional and technical aspects of neuroangiography is essential before embarking on head and neck vascular interventions. The vessels of the head and neck can be involved by infectious and inflammatory conditions, get irradiated during radiotherapy and injured due to trauma or iatrogenic cause. The ECHN is also a common site for various hypervascular neoplasms and vascular malformations, which can be treated with endovascular and percutaneous embolization. This pictorial essay provides a review of variety of ECHN pathologies which were managed by various IR procedures using different approaches.

Annotating pathogenic non-coding variants in genic regions.

Science.gov (United States)

Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B

2017-08-09

Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants. TraP accurately distinguishes known pathogenic and benign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public datasets, dismissing benign variants with exceptionally high specificity. TraP analysis of 843 exomes from epilepsy family trios identifies synonymous variants in known epilepsy genes, thus pinpointing risk factors of disease from non-coding sequence data. TraP outperforms leading methods in identifying non-coding variants that are pathogenic and is therefore a valuable tool for use in gene discovery and the interpretation of personal genomes.While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.

Fighting in women’s clothes The pictorial evidence of Walpurgis in Ms. I.33

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Gräf Julia

2017-12-01

Full Text Available Ms. I.33 is not only the oldest of the known fencing treatises in European context, it is also the only one showing a woman fighting equally with contemporary men. The author presents her research about the garments this female fencer wears, including her shirt, dress and overdress, hairstyle and footwear. Special consideration is given to the questions whether Walpurgis wears a belt, the length and hem circumference of her garments as well as the methods of draping them in the way depicted. The results of the analysis are compared with contemporary pictorial and archaeological sources of the early 14th century. Some personal insights gathered by the author while fighting in this kind of clothes shed light on the possibilities of moving without being disturbed by them. The clothes and hairstyle worn by Walpurgis, give clues about her social status and thus help to understand the context and dating of the whole manuscript.

Histone variants and lipid metabolism

NARCIS (Netherlands)

Borghesan, Michela; Mazzoccoli, Gianluigi; Sheedfar, Fareeba; Oben, Jude; Pazienza, Valerio; Vinciguerra, Manlio

2014-01-01

Within nucleosomes, canonical histones package the genome, but they can be opportunely replaced with histone variants. The incorporation of histone variants into the nucleosome is a chief cellular strategy to regulate transcription and cellular metabolism. In pathological terms, cellular steatosis

The hippocampus - pictorial essay

International Nuclear Information System (INIS)

Whan, A.; Mitchell, L.A.

2002-01-01

Full text: We aim to demonstrate the anatomy and pathology of the hippocampus. It is important that radiologists distinguish normal and abnormal hippocampal hippocampal MR appearances, since hippocampal sclerosis is the commonest cause of surgically treatable temporal lobe epilepsy. The detailed anatomy of the hippocampus is reviewed and correlated with normal MR appearances. Our radiology database was reviewed to determine both common and unusual pathologies affecting the hippocampus. Most scans were performed for our large Comprehensive Epilepsy Program, for investigation of epilepsy of possible seizures. Less frequent indications included memory loss (acute or chronic), stroke, headache, and altered conscious state. Hippocampal sclerosis was the commonest MR abnormality. This was occasionally bilateral or associated with other pathology. Other common findings included mild hippocampal asymmetry, bilateral atrophy, or normal variants such as choroid fissure cysts. Other pathologies included cortical developmental malformations, infarction, posttraumatic gliosis, herpes, simplex encephalitis, paraneoplastic limbic encephalitis, vascular malformations, sarcoidosis, benign tumours such as gangliogliomas and dysembyoplastic neuroepithelial tumours (DNET) and malignant tumours. The hippocampus has a complex anatomy visible on high resolution MRI. In the clinical context of epilepsy, hippocampal sclerosis is an important pathology, but a range of conditions may affect the hippocampus, readily demonstrated by MRI. Copyright (2002) Blackwell Science Pty Ltd

Imaging patterns and focal lesions in fatty liver: a pictorial review.

Science.gov (United States)

Venkatesh, Sudhakar K; Hennedige, Tiffany; Johnson, Geoffrey B; Hough, David M; Fletcher, Joel G

2017-05-01

Non-alcoholic fatty liver disease is the most common cause of chronic liver disease and affects nearly one-third of US population. With the increasing trend of obesity in the population, associated fatty change in the liver will be a common feature observed in imaging studies. Fatty liver causes changes in liver parenchyma appearance on imaging modalities including ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) and may affect the imaging characteristics of focal liver lesions (FLLs). The imaging characteristics of FLLs were classically described in a non-fatty liver. In addition, focal fatty change and focal fat sparing may also simulate FLLs. Knowledge of characteristic patterns of fatty change in the liver (diffuse, geographical, focal, subcapsular, and perivascular) and their impact on the detection and characterization of FLL is therefore important. In general, fatty change may improve detection of FLLs on MRI using fat suppression sequences, but may reduce sensitivity on a single-phase (portal venous) CT and conventional ultrasound. In patients with fatty liver, MRI is generally superior to ultrasound and CT for detection and characterization of FLL. In this pictorial essay, we describe the imaging patterns of fatty change in the liver and its effect on detection and characterization of FLLs on ultrasound, CT, MRI, and PET.

A preliminary investigation of a new pictorial method of measuring aggression-supportive cognition among young aggressive males.

Science.gov (United States)

Hutchings, Jade N; Gannon, Theresa A; Gilchrist, Elizabeth

2010-04-01

A new pictorial assessment was developed to measure aggression-supportive cognitions among young aggressive male students. The assessment was comprised of 17 watercolor ambiguous sketches that could be interpreted in either an aggressive or a benign manner (e.g., two young people facing each other with their arms folded). The results showed that high trait aggressive male students were more likely to make hostile attributions of the pictures, providing significantly more themes of entitlement and power in the stories they generated about the pictures. Aggressive male students also endorsed significantly more aggression-supportive cognitions on a self-report measure and provided some supporting qualitative accounts of physically aggressive encounters. The results of this study are discussed and evaluated with reference to future work with young violent adolescents.

Paraxial diffractive elements for space-variant linear transforms

Science.gov (United States)

Teiwes, Stephan; Schwarzer, Heiko; Gu, Ben-Yuan

1998-06-01

Optical linear transform architectures bear good potential for future developments of very powerful hybrid vision systems and neural network classifiers. The optical modules of such systems could be used as pre-processors to solve complex linear operations at very high speed in order to simplify an electronic data post-processing. However, the applicability of linear optical architectures is strongly connected with the fundamental question of how to implement a specific linear transform by optical means and physical imitations. The large majority of publications on this topic focusses on the optical implementation of space-invariant transforms by the well-known 4f-setup. Only few papers deal with approaches to implement selected space-variant transforms. In this paper, we propose a simple algebraic method to design diffractive elements for an optical architecture in order to realize arbitrary space-variant transforms. The design procedure is based on a digital model of scalar, paraxial wave theory and leads to optimal element transmission functions within the model. Its computational and physical limitations are discussed in terms of complexity measures. Finally, the design procedure is demonstrated by some examples. Firstly, diffractive elements for the realization of different rotation operations are computed and, secondly, a Hough transform element is presented. The correct optical functions of the elements are proved in computer simulation experiments.

CLEVER: Clique-Enumerating Variant Finder

NARCIS (Netherlands)

Marschall, T.; Costa, I.; Canzar, S.; bauer, m; Klau, G.W.; Schliep, A.; Schönhuth, A.

2012-01-01

Motivation: Next-generation sequencing techniques have facilitated a large-scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most

Annotating Cancer Variants and Anti-Cancer Therapeutics in Reactome

Energy Technology Data Exchange (ETDEWEB)

Milacic, Marija; Haw, Robin, E-mail: robin.haw@oicr.on.ca; Rothfels, Karen; Wu, Guanming [Informatics and Bio-computing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G0A3 (Canada); Croft, David; Hermjakob, Henning [European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD (United Kingdom); D’Eustachio, Peter [Department of Biochemistry, NYU School of Medicine, New York, NY 10016 (United States); Stein, Lincoln [Informatics and Bio-computing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G0A3 (Canada)

2012-11-08

Reactome describes biological pathways as chemical reactions that closely mirror the actual physical interactions that occur in the cell. Recent extensions of our data model accommodate the annotation of cancer and other disease processes. First, we have extended our class of protein modifications to accommodate annotation of changes in amino acid sequence and the formation of fusion proteins to describe the proteins involved in disease processes. Second, we have added a disease attribute to reaction, pathway, and physical entity classes that uses disease ontology terms. To support the graphical representation of “cancer” pathways, we have adapted our Pathway Browser to display disease variants and events in a way that allows comparison with the wild type pathway, and shows connections between perturbations in cancer and other biological pathways. The curation of pathways associated with cancer, coupled with our efforts to create other disease-specific pathways, will interoperate with our existing pathway and network analysis tools. Using the Epidermal Growth Factor Receptor (EGFR) signaling pathway as an example, we show how Reactome annotates and presents the altered biological behavior of EGFR variants due to their altered kinase and ligand-binding properties, and the mode of action and specificity of anti-cancer therapeutics.

Annotating cancer variants and anti-cancer therapeutics in reactome.

Science.gov (United States)

Milacic, Marija; Haw, Robin; Rothfels, Karen; Wu, Guanming; Croft, David; Hermjakob, Henning; D'Eustachio, Peter; Stein, Lincoln

2012-11-08

Reactome describes biological pathways as chemical reactions that closely mirror the actual physical interactions that occur in the cell. Recent extensions of our data model accommodate the annotation of cancer and other disease processes. First, we have extended our class of protein modifications to accommodate annotation of changes in amino acid sequence and the formation of fusion proteins to describe the proteins involved in disease processes. Second, we have added a disease attribute to reaction, pathway, and physical entity classes that uses disease ontology terms. To support the graphical representation of "cancer" pathways, we have adapted our Pathway Browser to display disease variants and events in a way that allows comparison with the wild type pathway, and shows connections between perturbations in cancer and other biological pathways. The curation of pathways associated with cancer, coupled with our efforts to create other disease-specific pathways, will interoperate with our existing pathway and network analysis tools. Using the Epidermal Growth Factor Receptor (EGFR) signaling pathway as an example, we show how Reactome annotates and presents the altered biological behavior of EGFR variants due to their altered kinase and ligand-binding properties, and the mode of action and specificity of anti-cancer therapeutics.

Annotating Cancer Variants and Anti-Cancer Therapeutics in Reactome

International Nuclear Information System (INIS)

Milacic, Marija; Haw, Robin; Rothfels, Karen; Wu, Guanming; Croft, David; Hermjakob, Henning; D’Eustachio, Peter; Stein, Lincoln

2012-01-01

Reactome describes biological pathways as chemical reactions that closely mirror the actual physical interactions that occur in the cell. Recent extensions of our data model accommodate the annotation of cancer and other disease processes. First, we have extended our class of protein modifications to accommodate annotation of changes in amino acid sequence and the formation of fusion proteins to describe the proteins involved in disease processes. Second, we have added a disease attribute to reaction, pathway, and physical entity classes that uses disease ontology terms. To support the graphical representation of “cancer” pathways, we have adapted our Pathway Browser to display disease variants and events in a way that allows comparison with the wild type pathway, and shows connections between perturbations in cancer and other biological pathways. The curation of pathways associated with cancer, coupled with our efforts to create other disease-specific pathways, will interoperate with our existing pathway and network analysis tools. Using the Epidermal Growth Factor Receptor (EGFR) signaling pathway as an example, we show how Reactome annotates and presents the altered biological behavior of EGFR variants due to their altered kinase and ligand-binding properties, and the mode of action and specificity of anti-cancer therapeutics

Application of a B ampersand W developed computer aided pictorial process planning system to CQMS for manufacturing process control

International Nuclear Information System (INIS)

Johanson, D.C.; VandeBogart, J.E.

1992-01-01

Babcock ampersand Wilcox (B ampersand W) will utilize its internally developed Computer Aided Pictorial Process Planning or CAPPP (pronounced open-quotes cap cubedclose quotes) system to create a paperless manufacturing environment for the Collider Quadruple Magnets (CQM). The CAPPP system consists of networked personal computer hardware and software used to: (1) generate and maintain the documents necessary for product fabrication, (2) communicate the information contained in these documents to the production floor, and (3) obtain quality assurance and manufacturing feedback information from the production floor. The purpose of this paper is to describe the various components of the CAPPP system and explain their applicability to product fabrication, specifically quality assurance functions

Basic principles and applications of {sup 18}F-FDG-PET/CT in oral and maxillofacial imaging: A pictorial essay

Energy Technology Data Exchange (ETDEWEB)

Omami, Galal [Dept. of Oral Diagnosis and Polyclinics, Faculty of Dentistry, The Hong Kong University, Hong Kong (Hong Kong); Tamimi, Dania [BeamReaders Inc., Orlando (United States); Branstette, Barton F. [Dept. of Otolaryngology and Radiology, University of Pittsburgh School of Medicine, Pittsburgh (United States)

2014-12-15

A combination of positron emission tomography (PET) with 18F-labeled fluoro-2-deoxyglucose ({sup 18}F-FDG) and computed tomography ({sup 18}F-FDG-PET/CT) has increasingly become a widely used imaging modality for the diagnosis and management of head and neck cancer. On the basis of both recent literature and our professional experience, we present a set of principles with pictorial illustrations and clinical applications of FDG-PET/CT in the evaluation and management planning of squamous cell carcinoma of the oral cavity and oropharynx. We feel that this paper will be of interest and will aid the learning of oral and maxillofacial radiology trainees and practitioners.

Clinical applications of susceptibility weighted MR imaging of the brain - a pictorial review

International Nuclear Information System (INIS)

Thomas, Bejoy; Somasundaram, Sivaraman; Thamburaj, Krishnamoorthy; Kesavadas, Chandrasekharan; Kumar Gupta, Arun; Bodhey, Narendra K.; Raman Kapilamoorthy, Tirur

2008-01-01

Susceptibility-weighted imaging (SWI) is a novel magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification. This pictorial review covers many clinical conditions illustrating its usefulness. SWI consists of using both magnitude and phase images from a high-resolution, three-dimensional fully velocity-compensated gradient echo sequence. Phase mask is created from the MR phase images, and multiplying these with the magnitude images increase the conspicuity of the smaller veins and other sources of susceptibility effects, which is depicted using minimal intensity projection (minIP). The phase images are useful in differentiating between diamagnetic and paramagnetic susceptibility effects of calcium and blood, respectively. This unique MR sequence will help in detecting occult low flow vascular lesions, calcification and cerebral microbleed in various pathologic conditions and aids in characterizing tumors and degenerative diseases of the brain. This sequence also can be used to visualize normal brain structures with conspicuity. Susceptibility-weighted imaging is useful in differentiating and characterizing diverse brain pathologies. (orig.)

The curation of genetic variants: difficulties and possible solutions.

Science.gov (United States)

Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

2012-12-01

The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

Word Variant Identification in Old French

Directory of Open Access Journals (Sweden)

Peter Willett

1997-01-01

Full Text Available Increasing numbers of historical texts are available in machine-readable form, which retain the original spelling, which can be very different from the modern-day equivalents due to the natural evolution of a language, and because the concept of standardisation in spelling is comparatively modern. Among medieval vernacular writers, the same word could be spelled in different ways and the same author (or scribe might even use several alternative spellings in the same passage. Thus, we do not know,a priori, how many variant forms of a particular word there are in such texts, let alone what these variants might be. Searching on the modern equivalent, or even the commonest historical variant, of a particular word may thus fail to retrieve an appreciable number of occurrences unless the searcher already has an extensive knowledge of the language of the documents. Moreover, even specialist scholars may be unaware of some idiosyncratic variants. Here, we consider the use of computer methods to retrieve variant historical spellings.

DUST DISTRIBUTION IN THE β PICTORIS CIRCUMSTELLAR DISKS

International Nuclear Information System (INIS)

Ahmic, Mirza; Croll, Bryce; Artymowicz, Pawel

2009-01-01

We present three-dimensional models of dust distribution around β Pictoris that produce the best fits to the Hubble Space Telescope/Advanced Camera for Surveys' images obtained by Golimowski and coworkers. We allow for the presence of either one or two separate axisymmetric dust disks. The density models are analytical, radial two power laws joined smoothly at a crossover radius with density exponentially decreasing away from the midplane of the disks. Two-disk models match the data best, yielding a reduced χ 2 of ∼1.2. Our two-disk model reproduces many of the asymmetries reported in the literature and suggests that it is the secondary (tilted) disk which is largely responsible for them. Our model suggests that the secondary disk is not constrained to the inner regions of the system (extending out to at least 250 AU) and that it has a slightly larger total area of dust than the primary, as a result of slower falloff of density with radius and height. This surprising result raises many questions about the origin and dynamics of such a pair of disks. The disks overlap, but can coexist owing to their low optical depths and therefore long mean collision times. We find that the two disks have dust replenishment times on the order of 10 4 yr at ∼100 AU, hinting at the presence of planetesimals that are responsible for the production of second generation dust. A plausible conjecture, which needs to be confirmed by physical modeling of the collisional dynamics of bodies in the disks, is that the two observed disks are derived from underlying planetesimal disks; such disks would be anchored by the gravitational influence of planets located at less than 70 AU from β Pic that are themselves in slightly inclined orbits.

TREM2 Variants in Alzheimer's Disease

Science.gov (United States)

Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K.; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John

2013-01-01

BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P = 0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P = 0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.) PMID:23150934

The MLH1 c.1852_1853delinsGC (p.K618A variant in colorectal cancer: genetic association study in 18,723 individuals.

Directory of Open Access Journals (Sweden)

Anna Abulí

Full Text Available Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance", being the c.1852_1853delinsGC (p.K618A variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

OpenAIRE

Fryns, J P; Moerman, P

1993-01-01

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

Effect of pictorial depth cues, binocular disparity cues and motion parallax depth cues on lightness perception in three-dimensional virtual scenes.

Directory of Open Access Journals (Sweden)

Michiteru Kitazaki

2008-09-01

Full Text Available Surface lightness perception is affected by scene interpretation. There is some experimental evidence that perceived lightness under bi-ocular viewing conditions is different from perceived lightness in actual scenes but there are also reports that viewing conditions have little or no effect on perceived color. We investigated how mixes of depth cues affect perception of lightness in three-dimensional rendered scenes containing strong gradients of illumination in depth.Observers viewed a virtual room (4 m width x 5 m height x 17.5 m depth with checkerboard walls and floor. In four conditions, the room was presented with or without binocular disparity (BD depth cues and with or without motion parallax (MP depth cues. In all conditions, observers were asked to adjust the luminance of a comparison surface to match the lightness of test surfaces placed at seven different depths (8.5-17.5 m in the scene. We estimated lightness versus depth profiles in all four depth cue conditions. Even when observers had only pictorial depth cues (no MP, no BD, they partially but significantly discounted the illumination gradient in judging lightness. Adding either MP or BD led to significantly greater discounting and both cues together produced the greatest discounting. The effects of MP and BD were approximately additive. BD had greater influence at near distances than far.These results suggest the surface lightness perception is modulated by three-dimensional perception/interpretation using pictorial, binocular-disparity, and motion-parallax cues additively. We propose a two-stage (2D and 3D processing model for lightness perception.

Combined analyses of 20 common obesity susceptibility variants

DEFF Research Database (Denmark)

Sandholt, Camilla Helene; Sparsø, Thomas; Grarup, Niels

2010-01-01

Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes.......Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes....

Pictorial essay of ultrasound-reconstructed coronal plane images of the uterus in different uterine pathologies.

Science.gov (United States)

Grigore, Mihaela; Grigore, Anamaria; Gafitanu, Dumitru; Furnica, Cristina

2018-04-01

Imaging in the major planes (horizontal, coronal, and sagittal) of the uterus is important for determining anatomy and allowing the findings to be standardized, and for evaluating and diagnosing different pathological conditions in clinical practice. Examination of the coronal plane is an important step in identifying uterine pathologies and their relationships to the endometrial canal. Three-dimensional (3D) ultrasound reveals the normal anatomy better and improves the depiction of abnormal anatomy, as the coronal plane of the uterus can easily be obtained using 3D reconstruction techniques. Our pictorial essay demonstrates that adding 3D ultrasound to a routine gynecological workup can be beneficial for clinicians, enabling a precise diagnosis to be made. In addition, the volumes obtained and stored by 3D ultrasound can allow students or residents to become more familiar with normal and abnormal pelvic structures. Clin. Anat. 31:373-379, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Modal analysis of fluid flows using variants of proper orthogonal decomposition

Science.gov (United States)

Rowley, Clarence; Dawson, Scott

2017-11-01

This talk gives an overview of several methods for analyzing fluid flows, based on variants of proper orthogonal decomposition. These methods may be used to determine simplified, approximate models that capture the essential features of these flows, in order to better understand the dominant physical mechanisms, and potentially to develop appropriate strategies for model-based flow control. We discuss balanced proper orthogonal decomposition as an approximation of balanced truncation, and explain connections with system identification methods such as the eigensystem realization algorithm. We demonstrate the methods on several canonical examples, including a linearized channel flow and the flow past a circular cylinder. Supported by AFOSR, Grant FA9550-14-1-0289.

How a mentalistic theory widens children’s conception of pictorial possibilities

Directory of Open Access Journals (Sweden)

Gabriella eGilli

2016-02-01

Full Text Available An interpretative theory of mind enables young children to grasp that people fulfil varying intentions when making pictures. It is not known when children widen their conception of artists’ intentions beyond that of picture-production, to include artists’ intention to show their pictures to others. We report studies centring on aspects of picture-exhibition, involving normal public display as well as the contrary intentions of hiding an original picture and of deceitfully displaying a forgery. Children aged between five and ten years viewed a brief video of an artist deliberately hiding her picture but her intention was thwarted when her picture was discovered and displayed. The first interview revealed that by eight years of age children were almost unanimous that a picture-producer without an intention to show her work to others cannot be considered to be an artist. Subsequent interviews revealed that the concept of exhibition widened to take others’ minds into account viewers’ critical judgements, and effects of forgeries on viewers’ minds. An increasingly mentalistic approach enables children to understand diverse possibilities in the art domain. The present technique of interpolating probes of typical possibilities between atypical intentions generated evidence that in middle childhood the foundations are laid for a conception of communication between artists’ minds and viewers’ minds via pictorial display.

Ways of Viewing Pictorial Plasticity

NARCIS (Netherlands)

Wijntjes, M.W.A.

2017-01-01

The plastic effect is historically used to denote various forms of stereopsis. The vivid impression of depth often associated with binocular stereopsis can also be achieved in other ways, for example, using a synopter. Accounts of this go back over a hundred years. These ways of viewing all aim

Germline Variants of Prostate Cancer in Japanese Families.

Directory of Open Access Journals (Sweden)

Takahide Hayano

Full Text Available Prostate cancer (PC is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family. We also found shared variants of BRCA2, HOXB13, and TRRAP from 59 additional small PC families (two patients per family. We identified two deleterious HOXB13 variants (F127C and G132E. Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3. The germline variant profile provides a new insight to clarify the genetic etiology and heterogeneity of PC among Japanese men.

Detecting rare variants in case-parents association studies.

Directory of Open Access Journals (Sweden)

Kuang-Fu Cheng

Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

AN EXAMPLE - BASED, DIAGNOSTIC INVESTIGATION OF VALUE CREATION AND VALUE DESTRUCTION BY CORPORATE ACTIVISTS

Directory of Open Access Journals (Sweden)

GABURICI Matei

2014-06-01

Full Text Available This paper investigates, through an example-based scenario, the extent to which corporate activists create or destroy shareholder value; there are five high-profile campaigns analyzed related to four major players. The foundation of the analysis is a variant of DCF model which examines the cash flows to equity. In 4 out of 5 cases the financial metrics are computed in order to assess the performance of the subject company ex-ante and ex-post activists’ involvement.

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

Science.gov (United States)

Fryns, J P; Moerman, P

1993-01-01

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia). Images PMID:8487282

Diffuse scattering as an indicator for martensitic variant selection

International Nuclear Information System (INIS)

Gao, Lei; Ding, Xiangdong; Zong, Hongxiang; Lookman, Turab; Sun, Jun; Ren, Xiaobing; Saxena, Avadh

2014-01-01

Diffuse scattering is an important precursor phenomenon prior to the martensitic transformation (MT). It is related to the correlated atomic position fluctuations prior to the MT and can provide important hints of the transformation mechanism. However, the role of this precursor phenomenon in the MT is not clear so far. Here we study the evolution of diffraction patterns prior to temperature- and stress-induced MTs and consider the evolution of atomic configurations during the whole MT process, using molecular dynamics simulations on a generic body-centered cubic–hexagonal close-packed transformation as an example. Our results show that, although the diffuse scattering changes with external fields, there exists a general relationship between the transformation pathways, the diffuse scattering streaks and the martensitic products. Two preferred transformation pathways with opposite shuffle directions lead to a single specific diffuse scattering streak prior to the MT and form one pair of anti-variants after the MT. Thus the distribution of diffuse scattering acts as an indicator of the selection of martensitic variants. In addition, we find that the applied stress can change the shear order parameter of the phase transformation, and subsequently determines the preferred transformation pathways and the distribution of diffuse scattering streaks. This work establishes a relationship between the transformation mechanism, the precursor phenomenon and the products after the MT under the influence of external fields

Variants of glycoside hydrolases

Science.gov (United States)

Teter, Sarah [Davis, CA; Ward, Connie [Hamilton, MT; Cherry, Joel [Davis, CA; Jones, Aubrey [Davis, CA; Harris, Paul [Carnation, WA; Yi, Jung [Sacramento, CA

2011-04-26

The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

Normal variants of the intracranial circulation demonstrated by MR angiography at 3 T

International Nuclear Information System (INIS)

Parmar, H.; Sitoh, Y.Y.; Hui, F.

2005-01-01

Magnetic resonance angiography (MRA) at 3 T offers increased signal to noise ratio with better background suppression, leading to exquisite depiction of the intracranial circulation. We present a pictorial review of the normal variations and anomalies of the intracranial circulation detected on MRA performed on a high field 3 T clinical scanner using parallel imaging techniques. The salient imaging features of these anomalies and normal variations are discussed with relevance to clinical practice

Genetic Variants in Epigenetic Pathways and Risks of Multiple Cancers in the GAME-ON Consortium.

Science.gov (United States)

Toth, Reka; Scherer, Dominique; Kelemen, Linda E; Risch, Angela; Hazra, Aditi; Balavarca, Yesilda; Issa, Jean-Pierre J; Moreno, Victor; Eeles, Rosalind A; Ogino, Shuji; Wu, Xifeng; Ye, Yuanqing; Hung, Rayjean J; Goode, Ellen L; Ulrich, Cornelia M

2017-06-01

Background: Epigenetic disturbances are crucial in cancer initiation, potentially with pleiotropic effects, and may be influenced by the genetic background. Methods: In a subsets (ASSET) meta-analytic approach, we investigated associations of genetic variants related to epigenetic mechanisms with risks of breast, lung, colorectal, ovarian and prostate carcinomas using 51,724 cases and 52,001 controls. False discovery rate-corrected P values (q values cancer type. For example, variants in BABAM1 were confirmed as a susceptibility locus for squamous cell lung, overall breast, estrogen receptor (ER)-negative breast, and overall prostate, and overall serous ovarian cancer; the most significant variant was rs4808076 [OR = 1.14; 95% confidence interval (CI) = 1.10-1.19; q = 6.87 × 10 -5 ]. DPF1 rs12611084 was inversely associated with ER-negative breast, endometrioid ovarian, and overall and aggressive prostate cancer risk (OR = 0.93; 95% CI = 0.91-0.96; q = 0.005). Variants in L3MBTL3 were associated with colorectal, overall breast, ER-negative breast, clear cell ovarian, and overall and aggressive prostate cancer risk (e.g., rs9388766: OR = 1.06; 95% CI = 1.03-1.08; q = 0.02). Variants in TET2 were significantly associated with overall breast, overall prostate, overall ovarian, and endometrioid ovarian cancer risk, with rs62331150 showing bidirectional effects. Analyses of subpathways did not reveal gene subsets that contributed disproportionately to susceptibility. Conclusions: Functional and correlative studies are now needed to elucidate the potential links between germline genotype, epigenetic function, and cancer etiology. Impact: This approach provides novel insight into possible pleiotropic effects of genes involved in epigenetic processes. Cancer Epidemiol Biomarkers Prev; 26(6); 816-25. ©2017 AACR . ©2017 American Association for Cancer Research.

MAGNETO-CONVECTION AND LITHIUM AGE ESTIMATES OF THE β PICTORIS MOVING GROUP

International Nuclear Information System (INIS)

Macdonald, J.; Mullan, D. J.

2010-01-01

Although the means of the ages of stars in young groups determined from Li depletion often agree with mean ages determined from Hertzsprung-Russell (H-R) diagram isochrones, there are often statistically significant differences in the ages of individual stars determined by the two methods. We find that inclusion of the effects of inhibition of convection due to the presence of magnetic fields leads to consistent ages for the individual stars. We illustrate how age consistency arises by applying our results to the β Pictoris moving group (BPMG). We find that, although magnetic inhibition of convection leads to increased ages from the H-R diagram isochrones for all stars, Li ages are decreased for fully convective M stars and increased for stars with radiative cores. Our consistent age determination for BPMG of 40 Myr is larger than previous determinations by a factor of about two. We have also considered models in which the mixing length ratio is adjusted to give consistent ages. We find that our magneto-convection models, which give quantitative estimates of magnetic field strength, provide a viable alternative to models in which the effects of magnetic fields (and other processes) are accounted for by reducing the mixing length ratio.

Local binary patterns new variants and applications

CERN Document Server

Jain, Lakhmi; Nanni, Loris; Lumini, Alessandra

2014-01-01

This book introduces Local Binary Patterns (LBP), arguably one of the most powerful texture descriptors, and LBP variants. This volume provides the latest reviews of the literature and a presentation of some of the best LBP variants by researchers at the forefront of textual analysis research and research on LBP descriptors and variants. The value of LBP variants is illustrated with reported experiments using many databases representing a diversity of computer vision applications in medicine, biometrics, and other areas. There is also a chapter that provides an excellent theoretical foundation for texture analysis and LBP in particular. A special section focuses on LBP and LBP variants in the area of face recognition, including thermal face recognition. This book will be of value to anyone already in the field as well as to those interested in learning more about this powerful family of texture descriptors.

Miscellaneous conditions of the shoulder: Anatomical, clinical, and pictorial review emphasizing potential pitfalls in imaging diagnosis

International Nuclear Information System (INIS)

Farid, Nikdokht; Bruce, Dean; Chung, Christine B.

2008-01-01

The purpose of this article is to review the key imaging findings in major categories of pathology affecting the shoulder joint including hydroxyapatite deposition disease, rotator cuff interval pathology, acromioclavicular joint pathology, glenohumeral osteoarthrosis, and synovial inflammatory processes, with specific emphasis on findings that have associated pitfalls in imaging diagnosis. The pathophysiology and clinical manifestations of the above mentioned categories of pathology will be reviewed, followed in each section by a detailed pictorial review of the key imaging findings in each category including plain film, computed tomography, and magnetic resonance imaging findings as applicable. Imaging challenges that relate to both diagnosis and characterization will be addressed with each type of pathology. The goal is that after reading this article, the reader will be able to recognize the key imaging findings in major categories of pathology affecting the shoulder joint and will become familiar with the potential pitfalls in their imaging diagnosis

Miscellaneous conditions of the shoulder: Anatomical, clinical, and pictorial review emphasizing potential pitfalls in imaging diagnosis

Energy Technology Data Exchange (ETDEWEB)

Farid, Nikdokht [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); Bruce, Dean [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); University of Alberta, Edmonton, Alberta (Canada); Chung, Christine B. [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States)], E-mail: cbchung@ucsd.edu

2008-10-15

The purpose of this article is to review the key imaging findings in major categories of pathology affecting the shoulder joint including hydroxyapatite deposition disease, rotator cuff interval pathology, acromioclavicular joint pathology, glenohumeral osteoarthrosis, and synovial inflammatory processes, with specific emphasis on findings that have associated pitfalls in imaging diagnosis. The pathophysiology and clinical manifestations of the above mentioned categories of pathology will be reviewed, followed in each section by a detailed pictorial review of the key imaging findings in each category including plain film, computed tomography, and magnetic resonance imaging findings as applicable. Imaging challenges that relate to both diagnosis and characterization will be addressed with each type of pathology. The goal is that after reading this article, the reader will be able to recognize the key imaging findings in major categories of pathology affecting the shoulder joint and will become familiar with the potential pitfalls in their imaging diagnosis.

Variant Creutzfeldt-Jakob Disease (vCJD)

Science.gov (United States)

... Form Controls Cancel Submit Search the CDC Variant Creutzfeldt-Jakob Disease (vCJD) Note: Javascript is disabled or is not ... gov . Recommend on Facebook Tweet Share Compartir Variant Creutzfeldt-Jakob disease (vCJD) is a prion disease that was first ...

Population structure analysis using rare and common functional variants

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Ding Lili

2011-11-01

Full Text Available Abstract Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic variation facilitates control of population genetic structure on a finer scale before large-scale genotyping in disease genetics studies. Population structure is a well-known, prevalent, and important factor in common variant genetic studies, but its relevance in rare variants is unclear. We perform an extensive population structure analysis using common and rare functional variants from the Genetic Analysis Workshop 17 mini-exome sequence. The analysis based on common functional variants required 388 principal components to account for 90% of the variation in population structure. However, an analysis based on rare variants required 532 significant principal components to account for similar levels of variation. Using rare variants, we detected fine-scale substructure beyond the population structure identified using common functional variants. Our results show that the level of population structure embedded in rare variant data is different from the level embedded in common variant data and that correcting for population structure is only as good as the level one wishes to correct.

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

Science.gov (United States)

Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A; Cogan, Joy; Blackwell, Timothy S; Phillips, John A; Bush, William S; Meiler, Jens; Capra, John A

2018-01-23

Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains information about function and pathogenicity that can help prioritize variants of unknown significance (VUS) and elucidate the structural mechanisms leading to disease. To illustrate this approach in a clinical application, we analyzed 13 candidate missense variants in regulator of telomere elongation helicase 1 (RTEL1) identified in patients with Familial Interstitial Pneumonia (FIP). We curated pathogenic and neutral RTEL1 variants from the literature and public databases. We then used homology modeling to construct a 3D structural model of RTEL1 and mapped known variants into this structure. We next developed a pathogenicity prediction algorithm based on proximity to known disease causing and neutral variants and evaluated its performance with leave-one-out cross-validation. We further validated our predictions with segregation analyses, telomere lengths, and mutagenesis data from the homologous XPD protein. Our algorithm for classifying RTEL1 VUS based on spatial proximity to pathogenic and neutral variation accurately distinguished 7 known pathogenic from 29 neutral variants (ROC AUC = 0.85) in the N-terminal domains of RTEL1. Pathogenic proximity scores were also significantly correlated with effects on ATPase activity (Pearson r = -0.65, p = 0.0004) in XPD, a related helicase. Applying the algorithm to 13 VUS identified from sequencing of RTEL1 from patients predicted five out of six disease-segregating VUS to be pathogenic. We provide structural hypotheses regarding how these mutations may disrupt RTEL1 ATPase and helicase function. Spatial analysis of missense variation accurately classified candidate VUS in RTEL1 and suggests how such variants cause disease. Incorporating

North-American norms for name disagreement: pictorial stimuli naming discrepancies.

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Mary O'Sullivan

Full Text Available Pictorial stimuli are commonly used by scientists to explore central processes; including memory, attention, and language. Pictures that have been collected and put into sets for these purposes often contain visual ambiguities that lead to name disagreement amongst subjects. In the present work, we propose new norms which reflect these sources of name disagreement, and we apply this method to two sets of pictures: the Snodgrass and Vanderwart (S&V set and the Bank of Standardized Stimuli (BOSS. Naming responses of the presented pictures were classified within response categories based on whether they were correct, incorrect, or equivocal. To characterize the naming strategy where an alternative name was being used, responses were further divided into different sub-categories that reflected various sources of name disagreement. Naming strategies were also compared across the two sets of stimuli. Results showed that the pictures of the S&V set and the BOSS were more likely to elicit alternative specific and equivocal names, respectively. It was also found that the use of incorrect names was not significantly different across stimulus sets but that errors were more likely caused by visual ambiguity in the S&V set and by a misuse of names in the BOSS. Norms for name disagreement presented in this paper are useful for subsequent research for their categorization and elucidation of name disagreement that occurs when choosing visual stimuli from one or both stimulus sets. The sources of disagreement should be examined carefully as they help to provide an explanation of errors and inconsistencies of many concepts during picture naming tasks.

Data-variant kernel analysis

CERN Document Server

Motai, Yuichi

2015-01-01

Describes and discusses the variants of kernel analysis methods for data types that have been intensely studied in recent years This book covers kernel analysis topics ranging from the fundamental theory of kernel functions to its applications. The book surveys the current status, popular trends, and developments in kernel analysis studies. The author discusses multiple kernel learning algorithms and how to choose the appropriate kernels during the learning phase. Data-Variant Kernel Analysis is a new pattern analysis framework for different types of data configurations. The chapters include

Noise and signal processing in a microstrip detector with a time variant readout system

International Nuclear Information System (INIS)

Cattaneo, P.W.

1995-01-01

This paper treats the noise and signal processing by a time variant filter in a microstrip detector. In particular, the noise sources in the detector-electronics chain and the signal losses that cause a substantial decrease of the original signal are thoroughly analyzed. This work has been motivated by the analysis of the data of the microstrip detectors designed for the ALEPH minivertex detector. Hence, even if the discussion will be kept as general as possible, concrete examples will be presented referring to the specific ALEPH design. (orig.)

The pediatric knee.

Science.gov (United States)

Orth, Robert C

2013-03-01

Knee pain is a common problem in children and adolescents, and MRI of the knee is the most commonly performed pediatric cross-sectional musculoskeletal imaging exam. The purpose of this pictorial review is to highlight differences between adult and pediatric knee imaging with an emphasis on normal developmental variants, injury and disease patterns unique to children and adolescents, and differences in response and presentation to conditions affecting both adults and children.

Immunoglobulin G4 -related kidney disease: A comprehensive pictorial review of the imaging spectrum, Mimickers, and clinicopathological characteristics

International Nuclear Information System (INIS)

Seo, Ni Eun; Kim, Jin Hee; Byun, Jae Ho; Lee, Seung Soo; Kim, Hyoung Jung; Lee, Moon Gyu

2015-01-01

Immunoglobulin G4 (IgG4)-related kidney disease (IgG4-KD) has recently been demonstrated to be an important part of IgG4-related sclerosing disease (IgG4-SD). However, since IgG4-KD is still relatively unfamiliar to radiologists and physicians as compared to IgG4-SD involving other organs, it could, therefore, be easily missed. In this article, we present a comprehensive pictorial review of IgG4-KD with regards to the imaging spectrum, mimickers, and clinicopathologic characteristics, based on our clinical experience with 48 patients during the past 13 years, as well as a literature review. Awareness of the broad imaging spectrum of IgG4-KD and differential diagnosis from its mimickers will thus facilitate its early diagnosis and treatment

Combinations of Genetic Variants Occurring Exclusively in Patients

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Erling Mellerup

Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

Determination of uranium by luminescent method (tablet variant)

International Nuclear Information System (INIS)

Sergeev, A.N.; Yufa, B.Ya.

1985-01-01

A new tablet variant of luminescent determination of uranium in rocks is developed. The analytical process includes the following operations: sample decomposition, uranium separation from luminescence quencher impurities, preparation of luminescent sample (tablet), photometry of the tablet. The method has two variants developed: the first one is characterized by a more hard decomposition, sample mass being 0.2 g; the second variant has a better detection limit (5x10 -6 %), the sample mass being 0.2-1 g. Procedures of the sample preparation for both variants of analysis are described

NMNAT1 variants cause cone and cone-rod dystrophy.

Science.gov (United States)

Nash, Benjamin M; Symes, Richard; Goel, Himanshu; Dinger, Marcel E; Bennetts, Bruce; Grigg, John R; Jamieson, Robyn V

2018-03-01

Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c.[271G > A] p.(Glu91Lys) and Case 2 compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). The detailed variant analysis, in combination with the observation of an associated macular atrophy phenotype, indicated that these variants were disease-causing. This report demonstrates that the variants in NMNAT1 may cause CD or CRD associated with macular atrophy. Genetic investigations of the patients with CD or CRD should include NMNAT1 in the genes examined.

Bayesian detection of causal rare variants under posterior consistency.

KAUST Repository

Liang, Faming

2013-07-26

Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

Bayesian detection of causal rare variants under posterior consistency.

Directory of Open Access Journals (Sweden)

Faming Liang

Full Text Available Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD, to tackle this problem. The new method simultaneously addresses two issues: (i (Global association test Are there any of the variants associated with the disease, and (ii (Causal variant detection Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

Bayesian detection of causal rare variants under posterior consistency.

KAUST Repository

Liang, Faming; Xiong, Momiao

2013-01-01

Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.

Directory of Open Access Journals (Sweden)

Tjaart A P de Beer

Full Text Available The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids are very different. These differences predominantly reflect preferences for nucleotide mutations in the DNA (especially the high mutation rate of the CpG dinucleotide, which makes arginine mutability very much higher than other amino acids rather than selection imposed by protein structure constraints, although there is evidence for the latter as well. The variants occur predominantly on the surface of proteins (82%, with a slight preference for sites which are more exposed and less well conserved than random. Mutations to functional residues occur about half as often as expected by chance. The disease-associated amino acid variant distributions in OMIM are radically different from those expected on the basis of the 1000 Genomes dataset. The disease-associated variants preferentially occur in more conserved sites, compared to 1000 Genomes mutations. Many of the amino acid exchange profiles appear to exhibit an anti-correlation, with common exchanges in one dataset being rare in the other. Disease-associated variants exhibit more extreme differences in amino acid size and hydrophobicity. More modelling of the mutational processes at the nucleotide level is needed, but these observations should contribute to an improved prediction of the effects of specific variants in humans.

Electrophoretic variants of blood proteins in japanese, 5

International Nuclear Information System (INIS)

Fujita, Mikio; Satoh, Chiyoko; Asakawa, Jun-ichi; Nagahata, Yuko; Tanaka, Yoshiko; Hazama, Ryuji; Goriki, Kazuaki.

1985-08-01

The plasma ceruloplasmin (CP) of 22,367 children of atomic bomb survivors in Hiroshima and Nagasaki was examined for variants by electrophoresis. The sample was composed of 14,964 unrelated children and 7,403 siblings of the unrelated persons. A total of seven types of electrophoretic variants were detected; four migrating anodally and three cathodally to the normal B band. We have reported two of these variants, CP A sub(NG1) and CP C sub(NG1), previously but the other five, CP A sub(NG2), CP A sub(HR1), CP A sub(HR2), CP C sub(HR1), and CP C sub(HR2), are newly identified. The allelic frequency of CP*CNG1 was 0.00916, so that the variant is considered to be a polymorphic allele. Homozygosity for the CP*CNG1 allele was detected in five individuals. This is the first report of a homozygous phenotype for a CP variant in a Japanese population. Family study of the new five variants all demonstrated patterns of codominant inheritance. (author)

Factor structure of the pictorial scale of perceived competence and social acceptance with two pre-elementary samples.

Science.gov (United States)

Mantzicopoulos, Panayota; French, Brian F; Maller, Susan J

2004-01-01

Competing models of the factorial structure of the Pictorial Scale of Perceived Competence and Social Acceptance (PSPCSA) were tested for fit using multisample confirmatory factor analysis. The best fitting model was tested for invariance (a) across samples of middle-class (n = 251) and economically disadvantaged (Head Start, n = 117) kindergarten children (whose ages ranged from 67 to 86 months), and (b) over time (at the end of preschool and kindergarten) for the Head Start sample. For kindergarten children, regardless of socioeconomic status, the factor structure of the PSPCSA was consistent with the 2-factor model of Competence and Acceptance. This model also fit reasonably well for Head Start children at the end of their preschool year. However, in addition to providing broad support for the dimensionality of the measure, our findings highlight important concerns about the PSPCSA. Copyright 2004 Society for Research in Child Development, Inc.

Effects of distraction and pictorial illustration on memory for countries in older adults with probable Alzheimer's disease.

Science.gov (United States)

Boudreaux, Emily O; Cherry, Katie E; Elliott, Emily M; Hicks, Jason L

2011-05-01

Eight participants with probable Alzheimer's disease (AD) were trained to recall names of countries using the spaced-retrieval memory intervention. Six training sessions were administered on alternate days over a 2-week period. Half of the participants studied a target country alone and the other half studied a target country along with eight distractor countries. Training stimuli appeared in text-only format in half of the sessions and text with a color photograph of the country in the other sessions. On each trial, participants selected the target at increasingly longer retention intervals, contingent upon successful recall. Results indicated that the mean proportion of correct trials and longest duration achieved increased across training sessions, confirming the success of the spaced-retrieval intervention. Pictorial illustrations enhanced explicit memory for target country names. Implications of these data for current views on memory remediation in cognitively impaired older adults are discussed.

Association analysis identifies ZNF750 regulatory variants in psoriasis

Directory of Open Access Journals (Sweden)

Birnbaum Ramon Y

2011-12-01

Full Text Available Abstract Background Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that is highly expressed in keratinocytes and represents a candidate psoriasis gene. Methods We examined whether ZNF750 variants were associated with psoriasis in a large case-control population. We sequenced the promoter and exon regions of ZNF750 in 716 Caucasian psoriasis cases and 397 Caucasian controls. Results We identified a total of 47 variants, including 38 rare variants of which 35 were novel. Association testing identified two ZNF750 haplotypes associated with psoriasis (p ZNF750 promoter and 5' UTR variants displayed a 35-55% reduction of ZNF750 promoter activity, consistent with the promoter activity reduction seen in a Mendelian psoriasis family with a ZNF750 promoter variant. However, the rare promoter and 5' UTR variants identified in this study did not strictly segregate with the psoriasis phenotype within families. Conclusions Two haplotypes of ZNF750 and rare 5' regulatory variants of ZNF750 were found to be associated with psoriasis. These rare 5' regulatory variants, though not causal, might serve as a genetic modifier of psoriasis.

[Clinico-pathogenetic variants of chronic gastritis].

Science.gov (United States)

Chernin, V V; Dzhulaĭ, G S

2004-01-01

To evaluate specific features of the course of chronic gastritis (CG), morphofunctional condition of gastric mucosa, vegetative regulation, adrenergic and cholinergic shifts, histamine metabolism and effects of exogenic and endogenic risk factors in CG patients; to study clinicopathogenetic variants of CG. A total of 311 CG patients aged from 16 to 72 years were studied. They were divided into three groups by their gastric mucosa condition. The control group consisted of 30 healthy donors. The following parameters were studied: visual and histological condition of gastric mucosa, total acidity, the levels of free hydrochloric acid, pepsin, bioelectric gastric activity, general autonomic tonicity, cholinesterase activity. Three clinicopathogenetic variants of the disease have been identified. Variant 1 was characterized by a recurrent course, subjective manifestation of the disease only in exacerbation, surface (primarily antral) mucosal affection, normal or enhanced secretory and motor functions of the stomach, adequate reaction of acid production to caffeine and histamine stimulation, parasympathicotonia, absolute hyperhistaminemia, relative hypoacetylcholinemia, subnormal urinary excretion of adrenalin. Variant 2 manifested with rare recurrences, longer and more severe exacerbations, frequent spontaneous and provoked aggravations, moderate focal atrophy of the mucosa, secretory insufficiency with adequate reaction to histamine and minor to caffeine stimuli, hypomotor gastric dyskinesia, vegetative eutonia, normohistaminemia, absolute hypoacetylcholinemia, subnormal urinary excretion of noradrenaline. Variant 3 runs without definite remissions and exacerbations, with continuous abdominal pain and dyspepsia, frequent spontaneous aggravations, marked extended mucosal atrophy with secretory insufficiency up to achlorhydria, no stimulation of acid production in response to caffeine and histamine, gastric hypomotility, sympathicotonia, absolute hypohistaminemia

Neural response to pictorial health warning labels can predict smoking behavioral change.

Science.gov (United States)

Riddle, Philip J; Newman-Norlund, Roger D; Baer, Jessica; Thrasher, James F

2016-11-01

In order to improve our understanding of how pictorial health warning labels (HWLs) influence smoking behavior, we examined whether brain activity helps to explain smoking behavior above and beyond self-reported effectiveness of HWLs. We measured the neural response in the ventromedial prefrontal cortex (vmPFC) and the amygdala while adult smokers viewed HWLs. Two weeks later, participants' self-reported smoking behavior and biomarkers of smoking behavior were reassessed. We compared multiple models predicting change in self-reported smoking behavior (cigarettes per day [CPD]) and change in a biomarkers of smoke exposure (expired carbon monoxide [CO]). Brain activity in the vmPFC and amygdala not only predicted changes in CO, but also accounted for outcome variance above and beyond self-report data. Neural data were most useful in predicting behavioral change as quantified by the objective biomarker (CO). This pattern of activity was significantly modulated by individuals' intention to quit. The finding that both cognitive (vmPFC) and affective (amygdala) brain areas contributed to these models supports the idea that smokers respond to HWLs in a cognitive-affective manner. Based on our findings, researchers may wish to consider using neural data from both cognitive and affective networks when attempting to predict behavioral change in certain populations (e.g. cigarette smokers). © The Author (2016). Published by Oxford University Press.

Partial epilepsy: A pictorial review of 3 TESLA magnetic resonance imaging features

Directory of Open Access Journals (Sweden)

Lucas Giansante Abud

2015-09-01

Full Text Available Epilepsy is a disease with serious consequences for patients and society. In many cases seizures are sufficiently disabling to justify surgical evaluation. In this context, Magnetic Resonance Imaging (MRI is one of the most valuable tools for the preoperative localization of epileptogenic foci. Because these lesions show a large variety of presentations (including subtle imaging characteristics, their analysis requires careful and systematic interpretation of MRI data. Several studies have shown that 3 Tesla (T MRI provides a better image quality than 1.5 T MRI regarding the detection and characterization of structural lesions, indicating that high-field-strength imaging should be considered for patients with intractable epilepsy who might benefit from surgery. Likewise, advanced MRI postprocessing and quantitative analysis techniques such as thickness and volume measurements of cortical gray matter have emerged and in the near future, these techniques will routinely enable more precise evaluations of such patients. Finally, the familiarity with radiologic findings of the potential epileptogenic substrates in association with combined use of higher field strengths (3 T, 7 T, and greater and new quantitative analytical post-processing techniques will lead to improvements regarding the clinical imaging of these patients. We present a pictorial review of the major pathologies related to partial epilepsy, highlighting the key findings of 3 T MRI.

Hybrid time-variant reliability estimation for active control structures under aleatory and epistemic uncertainties

Science.gov (United States)

Wang, Lei; Xiong, Chuang; Wang, Xiaojun; Li, Yunlong; Xu, Menghui

2018-04-01

Considering that multi-source uncertainties from inherent nature as well as the external environment are unavoidable and severely affect the controller performance, the dynamic safety assessment with high confidence is of great significance for scientists and engineers. In view of this, the uncertainty quantification analysis and time-variant reliability estimation corresponding to the closed-loop control problems are conducted in this study under a mixture of random, interval, and convex uncertainties. By combining the state-space transformation and the natural set expansion, the boundary laws of controlled response histories are first confirmed with specific implementation of random items. For nonlinear cases, the collocation set methodology and fourth Rounge-Kutta algorithm are introduced as well. Enlightened by the first-passage model in random process theory as well as by the static probabilistic reliability ideas, a new definition of the hybrid time-variant reliability measurement is provided for the vibration control systems and the related solution details are further expounded. Two engineering examples are eventually presented to demonstrate the validity and applicability of the methodology developed.

Analysis of the energy development variants

International Nuclear Information System (INIS)

Tsvetanov, P.

1990-01-01

Analysis of the variants of energy development is made as the third stage of a procedure of energy-economy interrelations dynamics study, the other two stages being the scenarios description and the formulation of the variants. This stage includes a research on the dimensions and the dynamics of the resources demands, the general features and the trends of the national energy development. There is a presentation of a comparative analysis of the variants in terms of economic indices and energy values, computed by the model IMPACT-B. A resource evaluation of the development variants is given in terms of investments, requirements (direct, indirect and total) and limited national resources demands of the energy system. The trends of the national energy development discussed are: trends characterizing the changes in the structure of the energy consumption, resulting from changes in the economy; trends of the energy system impact on the productivity of labor; general trends of the proportionality in the industrial, the household and services sector development. 16 refs., 16 figs., 4 tabs. (R.Ts.)

Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller.

Science.gov (United States)

Xu, Chang; Nezami Ranjbar, Mohammad R; Wu, Zhong; DiCarlo, John; Wang, Yexun

2017-01-03

Detection of DNA mutations at very low allele fractions with high accuracy will significantly improve the effectiveness of precision medicine for cancer patients. To achieve this goal through next generation sequencing, researchers need a detection method that 1) captures rare mutation-containing DNA fragments efficiently in the mix of abundant wild-type DNA; 2) sequences the DNA library extensively to deep coverage; and 3) distinguishes low level true variants from amplification and sequencing errors with high accuracy. Targeted enrichment using PCR primers provides researchers with a convenient way to achieve deep sequencing for a small, yet most relevant region using benchtop sequencers. Molecular barcoding (or indexing) provides a unique solution for reducing sequencing artifacts analytically. Although different molecular barcoding schemes have been reported in recent literature, most variant calling has been done on limited targets, using simple custom scripts. The analytical performance of barcode-aware variant calling can be significantly improved by incorporating advanced statistical models. We present here a highly efficient, simple and scalable enrichment protocol that integrates molecular barcodes in multiplex PCR amplification. In addition, we developed smCounter, an open source, generic, barcode-aware variant caller based on a Bayesian probabilistic model. smCounter was optimized and benchmarked on two independent read sets with SNVs and indels at 5 and 1% allele fractions. Variants were called with very good sensitivity and specificity within coding regions. We demonstrated that we can accurately detect somatic mutations with allele fractions as low as 1% in coding regions using our enrichment protocol and variant caller.

Identifying structural variants using linked-read sequencing data.

Science.gov (United States)

Elyanow, Rebecca; Wu, Hsin-Ta; Raphael, Benjamin J

2017-11-03

Structural variation, including large deletions, duplications, inversions, translocations, and other rearrangements, is common in human and cancer genomes. A number of methods have been developed to identify structural variants from Illumina short-read sequencing data. However, reliable identification of structural variants remains challenging because many variants have breakpoints in repetitive regions of the genome and thus are difficult to identify with short reads. The recently developed linked-read sequencing technology from 10X Genomics combines a novel barcoding strategy with Illumina sequencing. This technology labels all reads that originate from a small number (~5-10) DNA molecules ~50Kbp in length with the same molecular barcode. These barcoded reads contain long-range sequence information that is advantageous for identification of structural variants. We present Novel Adjacency Identification with Barcoded Reads (NAIBR), an algorithm to identify structural variants in linked-read sequencing data. NAIBR predicts novel adjacencies in a individual genome resulting from structural variants using a probabilistic model that combines multiple signals in barcoded reads. We show that NAIBR outperforms several existing methods for structural variant identification - including two recent methods that also analyze linked-reads - on simulated sequencing data and 10X whole-genome sequencing data from the NA12878 human genome and the HCC1954 breast cancer cell line. Several of the novel somatic structural variants identified in HCC1954 overlap known cancer genes. Software is available at compbio.cs.brown.edu/software. braphael@princeton.edu. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Edge enhancement improves disruptive camouflage by emphasising false edges and creating pictorial relief.

Science.gov (United States)

Egan, John; Sharman, Rebecca J; Scott-Brown, Kenneth C; Lovell, Paul George

2016-12-06

Disruptive colouration is a visual camouflage composed of false edges and boundaries. Many disruptively camouflaged animals feature enhanced edges; light patches are surrounded by a lighter outline and/or a dark patches are surrounded by a darker outline. This camouflage is particularly common in amphibians, reptiles and lepidopterans. We explored the role that this pattern has in creating effective camouflage. In a visual search task utilising an ultra-large display area mimicking search tasks that might be found in nature, edge enhanced disruptive camouflage increases crypsis, even on substrates that do not provide an obvious visual match. Specifically, edge enhanced camouflage is effective on backgrounds both with and without shadows; i.e. this is not solely due to background matching of the dark edge enhancement element with the shadows. Furthermore, when the dark component of the edge enhancement is omitted the camouflage still provided better crypsis than control patterns without edge enhancement. This kind of edge enhancement improved camouflage on all background types. Lastly, we show that edge enhancement can create a perception of multiple surfaces. We conclude that edge enhancement increases the effectiveness of disruptive camouflage through mechanisms that may include the improved disruption of the object outline by implying pictorial relief.

Autobiographical memory specificity in response to verbal and pictorial cues in clinical depression.

Science.gov (United States)

Ridout, Nathan; Dritschel, Barbara; Matthews, Keith; O'Carroll, Ronan

2016-06-01

Depressed individuals have been consistently shown to exhibit problems in accessing specific memories of events from their past and instead tend to retrieve categorical summaries of events. The majority of studies examining autobiographical memory changes associated with psychopathology have tended to use word cues, but only one study to date has used images (with PTSD patients). to determine if using images to cue autobiographical memories would reduce the memory specificity deficit exhibited by patients with depression in comparison to healthy controls. Twenty-five clinically depressed patients and twenty-five healthy controls were assessed on two versions of the autobiographical memory test; cued with emotional words and images. Depressed patients retrieved significantly fewer specific memories, and a greater number of categorical, than did the controls. Controls retrieved a greater proportion of specific memories to images compared to words, whereas depressed patients retrieved a similar proportion of specific memories to both images and words. no information about the presence and severity of past trauma was collected. results suggest that the overgeneral memory style in depression generalises from verbal to pictorial cues. This is important because retrieval to images may provide a more ecologically valid test of everyday memory experiences than word-cued retrieval.. Copyright © 2016 Elsevier Ltd. All rights reserved.

Example and Non-Example Pada Pembelajaran Matematika

OpenAIRE

Yunarto, Wanda Nugroho

2016-01-01

Abstrak Example and Non-Example Learning Model merupakan model pembelajaran yang menggunakan gambar sebagai media pembelajaran yang bertujuan mendorong mahasiswa untuk belajar berfikir kritis dengan jalan memecahkan permasalahan-permasalahan yang terkandung dalam contoh-contoh permasalahan/ konsep yang disajikan. Tujuan dari penelitian ini adalah mendapatkan gambaran mengenai bagaimana penerapan model pembelajaran Example and non-Example pada mahasiswa program studi Pendidikan Matematika Univ...

Persistent trigeminal artery/persistent trigeminal artery variant and coexisting variants of the head and neck vessels diagnosed using 3 T MRA

International Nuclear Information System (INIS)

Bai, M.; Guo, Q.; Li, S.

2013-01-01

Aim: To report the prevalence and characteristic features of persistent trigeminal artery (PTA), PTA variant (PTAV), and other variants of the head and neck vessels, identified using magnetic resonance angiography (MRA). Materials and methods: The three-dimensional (3D) time of flight (TOF) MRA and 3D contrast-enhanced (CE) MRA images of 6095 consecutive patients who underwent 3 T MRA at Liaocheng People's Hospital from 1 September 2008 through 31 May 2012 were retrospectively reviewed and analysed. Thirty-two patients were excluded because of suboptimal image quality or internal carotid artery (ICA) occlusion. Results: The prevalence of both PTA and PTAV was 0.63% (PTA, 26 cases; PTAV, 12 cases). The prevalence of coexisting variants of the head and neck vessels in cases of PTA/PTAV was 52.6% (20 of 38 cases). The vascular variants that coexisted with cases of PTA/PTAV were as follows: the intracranial arteries varied in 10 cases, the origin of the supra-aortic arteries varied in nine cases, the vertebral artery (VA) varied in 14 cases, and six cases displayed fenestrations. Fifteen of the 20 cases contained more than two types of variants. Conclusion: The prevalence of both PTA and PTAV was 0.63%. Although PTA and PTAV are rare vascular variants, they frequently coexist with other variants of the head and neck vessels. Multiple vascular variations can coexist in a single patient. Recognizing PTA, PTAV, and other variants of the head and neck vessels is crucial when planning a neuroradiological intervention or surgery. Recognizing the medial PTA is very important in clinical practice when performing trans-sphenoidal surgery on the pituitary as failure to do so could result in massive haemorrhage

Developing consistent pronunciation models for phonemic variants

CSIR Research Space (South Africa)

Davel, M

2006-09-01

Full Text Available Pronunciation lexicons often contain pronunciation variants. This can create two problems: It can be difficult to define these variants in an internally consistent way and it can also be difficult to extract generalised grapheme-to-phoneme rule sets...

Comparison of the BioRad Variant and Primus Ultra2 high-pressure liquid chromatography (HPLC) instruments for the detection of variant hemoglobins.

Science.gov (United States)

Gosselin, R C; Carlin, A C; Dwyre, D M

2011-04-01

Hemoglobin variants are a result of genetic changes resulting in abnormal or dys-synchronous hemoglobin chain production (thalassemia) or the generation of hemoglobin chain variants such as hemoglobin S. Automated high-pressure liquid chromatography (HPLC) systems have become the method of choice for the evaluation of patients suspected with hemoglobinopathies. In this study, we evaluated the performance of two HPLC methods used in the detection of common hemoglobin variants: Variant and Ultra2. There were 377 samples tested, 26% (99/377) with HbS, 8.5% (32/377) with HbC, 20.7% (78/377) with other hemoglobin variant or thalassemia, and 2.9% with increased hemoglobin A(1) c. The interpretations of each chromatograph were compared. There were no differences noted for hemoglobins A(0), S, or C. There were significant differences between HPLC methods for hemoglobins F, A(2), and A(1) c. However, there was good concordance between normal and abnormal interpretations (97.9% and 96.2%, respectively). Both Variant and Ultra2 HPLC methods were able to detect most common hemoglobin variants. There was better discrimination for fast hemoglobins, between hemoglobins E and A(2), and between hemoglobins S and F using the Ultra2 HPLC method. © 2010 Blackwell Publishing Ltd.

Normal bone and soft tissue distribution of fluorine-18-sodium fluoride and artifacts on 18F-NaF PET/CT bone scan: a pictorial review.

Science.gov (United States)

Sarikaya, Ismet; Elgazzar, Abdelhamid H; Sarikaya, Ali; Alfeeli, Mahmoud

2017-10-01

Fluorine-18-sodium fluoride (F-NaF) PET/CT is a relatively new and high-resolution bone imaging modality. Since the use of F-NaF PET/CT has been increasing, it is important to accurately assess the images and be aware of normal distribution and major artifacts. In this pictorial review article, we will describe the normal uptake patterns of F-NaF in the bone tissues, particularly in complex structures, as well as its physiologic soft tissue distribution and certain artifacts seen on F-NaF PET/CT images.

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

Science.gov (United States)

Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon

2016-04-07

Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.

Science.gov (United States)

Miyake, B

1989-02-01

In a survey of the proteins from human hair, a genetic electrophoretic variant has been observed in the high-sulfur protein region. S-carboxymethylated proteins were examined by 15% polyacrylamide gel electrophoresis at pH 8.9. Out of 150 unrelated samples of Japanese head hairs analyzed, 107 showed 6 major high-sulfur protein bands (normal) and the remaining 43 samples showed an additional high-sulfur protein band (variant). Of 21 Caucasian samples analyzed only one variant sample was found. Characterization of the proteins by two-dimensional electrophoresis evidenced a variant protein spot which showed an apparent molecular weight of 30 k Da. Isoelectric points of the high-sulfur proteins ranged from 3.25-3.55 and that of variant protein band from 3.3-3.4. Family studies of 21 matings resulting in 49 children indicated that this variant was inherited in an autosomal fashion.

Variant selection during α precipitation in Ti–6Al–4V under the influence of local stress – A simulation study

International Nuclear Information System (INIS)

Shi, R.; Wang, Y.

2013-01-01

Variant selection of α (hexagonal close-packed, hcp) phase during its precipitation from β (body-centered cubic, bcc) matrix plays a key role in determining the microstructural state and mechanical properties of α/β titanium alloys. In this work, we develop a three-dimensional quantitative phase field model to predict variant selection and microstructural evolution during β → α transformation in Ti–6Al–4V (wt.%) under the influence of both external and internal stresses. The model links its inputs directly to thermodynamic and mobility databases, and incorporates the crystallography of bcc to hcp transformation, elastic anisotropy and defects within semi-coherent α/β interfaces in its total free energy formulation. It is found that, for a given undercooling, the development of a transformation texture (also called microtexture) of the α phase due to variant selection during precipitation is determined by the interplay between externally applied stress or strain and internal stress generated by the precipitation reaction itself. For example, the growth of pre-existing α precipitates is accompanied by selective nucleation and growth of secondary α plates of certain variants that may not be the ones preferred by the initially applied stress. Possible measures to reduce transformation texture are discussed

Investigation and optimization of composting processes--test systems and practical examples

International Nuclear Information System (INIS)

Koerner, I.; Braukmeier, J.; Herrenklage, J.; Leikam, K.; Ritzkowski, M.; Schlegelmilch, M.; Stegmann, R.

2003-01-01

To determine the optimal course of composting it is useful to carry out experiments. The selection of the right experimental set-up depends on the question of concern. Each set-up is useful for a particular application and has its limits. Two test systems of different scales (up to 1500 ml; up to 100 l) are introduced. The purpose and importance of each system design shall be highlighted by application examples: (1) Suitability of a liquid industrial residue as composting accelerator; (2) Determination of the compost maturity; (3) Behaviour of odor-reducing additives during waste collection and composting; (4) Production of tailor-made compost with respect to Nitrogen (5) Suitability of O 2 -enriched air for acceleration of composting. Small-scale respiration experiments are useful to optimize parameters which have to be adjusted during substrate pre-treatment and composting, with the exception of particle size and temperature, and to reduce the number of variants which have to be investigated in greater detail in larger scale experiments. As all regulation possibilities such as aeration, moistening, turning can be simulated with the technical scale set-up, their complex cooperation can be taken into consideration. Encouraging composting variants can be tested, compared and optimized

Simulation methods supporting homologation of Electronic Stability Control in vehicle variants

Science.gov (United States)

Lutz, Albert; Schick, Bernhard; Holzmann, Henning; Kochem, Michael; Meyer-Tuve, Harald; Lange, Olav; Mao, Yiqin; Tosolin, Guido

2017-10-01

Vehicle simulation has a long tradition in the automotive industry as a powerful supplement to physical vehicle testing. In the field of Electronic Stability Control (ESC) system, the simulation process has been well established to support the ESC development and application by suppliers and Original Equipment Manufacturers (OEMs). The latest regulation of the United Nations Economic Commission for Europe UN/ECE-R 13 allows also for simulation-based homologation. This extends the usage of simulation from ESC development to homologation. This paper gives an overview of simulation methods, as well as processes and tools used for the homologation of ESC in vehicle variants. The paper first describes the generic homologation process according to the European Regulation (UN/ECE-R 13H, UN/ECE-R 13/11) and U.S. Federal Motor Vehicle Safety Standard (FMVSS 126). Subsequently the ESC system is explained as well as the generic application and release process at the supplier and OEM side. Coming up with the simulation methods, the ESC development and application process needs to be adapted for the virtual vehicles. The simulation environment, consisting of vehicle model, ESC model and simulation platform, is explained in detail with some exemplary use-cases. In the final section, examples of simulation-based ESC homologation in vehicle variants are shown for passenger cars, light trucks, heavy trucks and trailers. This paper is targeted to give a state-of-the-art account of the simulation methods supporting the homologation of ESC systems in vehicle variants. However, the described approach and the lessons learned can be used as reference in future for an extended usage of simulation-supported releases of the ESC system up to the development and release of driver assistance systems.

Discovery of a Mammalian Splice Variant of Myostatin That Stimulates Myogenesis

Science.gov (United States)

Jeanplong, Ferenc; Falconer, Shelley J.; Oldham, Jenny M.; Thomas, Mark; Gray, Tarra S.; Hennebry, Alex; Matthews, Kenneth G.; Kemp, Frederick C.; Patel, Ketan; Berry, Carole; Nicholas, Gina; McMahon, Christopher D.

2013-01-01

Myostatin plays a fundamental role in regulating the size of skeletal muscles. To date, only a single myostatin gene and no splice variants have been identified in mammals. Here we describe the splicing of a cryptic intron that removes the coding sequence for the receptor binding moiety of sheep myostatin. The deduced polypeptide sequence of the myostatin splice variant (MSV) contains a 256 amino acid N-terminal domain, which is common to myostatin, and a unique C-terminus of 65 amino acids. Western immunoblotting demonstrated that MSV mRNA is translated into protein, which is present in skeletal muscles. To determine the biological role of MSV, we developed an MSV over-expressing C2C12 myoblast line and showed that it proliferated faster than that of the control line in association with an increased abundance of the CDK2/Cyclin E complex in the nucleus. Recombinant protein made for the novel C-terminus of MSV also stimulated myoblast proliferation and bound to myostatin with high affinity as determined by surface plasmon resonance assay. Therefore, we postulated that MSV functions as a binding protein and antagonist of myostatin. Consistent with our postulate, myostatin protein was co-immunoprecipitated from skeletal muscle extracts with an MSV-specific antibody. MSV over-expression in C2C12 myoblasts blocked myostatin-induced Smad2/3-dependent signaling, thereby confirming that MSV antagonizes the canonical myostatin pathway. Furthermore, MSV over-expression increased the abundance of MyoD, Myogenin and MRF4 proteins (Pmyostatin remained unchanged, which suggests that MSV may promote the growth of skeletal muscles. We conclude that MSV represents a unique example of intra-genic regulation in which a splice variant directly antagonizes the biological activity of the canonical gene product. PMID:24312578

ABCA7 rare variants and Alzheimer disease risk.

Science.gov (United States)

Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Amouyel, Philippe; Munter, Hans Markus; Bourque, Guillaume; Lathrop, Mark; Frebourg, Thierry; Redon, Richard; Letenneur, Luc; Dartigues, Jean-François; Pasquier, Florence; Rollin-Sillaire, Adeline; Génin, Emmanuelle; Lambert, Jean-Charles; Hannequin, Didier; Campion, Dominique

2016-06-07

To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants. © 2016 American Academy of Neurology.

Electrophoretic variants of blood proteins in Japanese, 7

International Nuclear Information System (INIS)

Satoh, Chiyoko; Takahashi, Norio; Kimura, Yasukazu; Miura, Akiko; Kaneko, Junko; Fujita, Mikio; Toyama, Kyoko.

1986-11-01

A total of 16,835 children, of whom 11,737 are unrelated, from Hiroshima and Nagasaki were examined for erythrocyte cytoplasmic glutamate-oxaloacetate transaminase (GOT1) by starch gel electrophoresis. A variant allele named GOT1*2HR1 which seems to be identical with GOT1*2 was encountered in polymorphic frequency. Five kinds of rare variants, 3NG1, 4NG1, 5NG1, 6HR1, and 7NG1 were encountered in a total of 109 children. Except for 7NG1 for which complete family study was unable, family studies confirmed the genetic nature of these rare variants, since for all instances in which both parents could be examined, one of the parents exhibited the same variant as that of their child. Thermostability profiles of these six variants were normal. The enzyme activities of five were decreased, while the value of one was normal compared to that of GOT1 1. (author)

Identifying noncoding risk variants using disease-relevant gene regulatory networks.

Science.gov (United States)

Gao, Long; Uzun, Yasin; Gao, Peng; He, Bing; Ma, Xiaoke; Wang, Jiahui; Han, Shizhong; Tan, Kai

2018-02-16

Identifying noncoding risk variants remains a challenging task. Because noncoding variants exert their effects in the context of a gene regulatory network (GRN), we hypothesize that explicit use of disease-relevant GRNs can significantly improve the inference accuracy of noncoding risk variants. We describe Annotation of Regulatory Variants using Integrated Networks (ARVIN), a general computational framework for predicting causal noncoding variants. It employs a set of novel regulatory network-based features, combined with sequence-based features to infer noncoding risk variants. Using known causal variants in gene promoters and enhancers in a number of diseases, we show ARVIN outperforms state-of-the-art methods that use sequence-based features alone. Additional experimental validation using reporter assay further demonstrates the accuracy of ARVIN. Application of ARVIN to seven autoimmune diseases provides a holistic view of the gene subnetwork perturbed by the combinatorial action of the entire set of risk noncoding mutations.

Genome-wide meta-analysis of common variant differences between men and women

Science.gov (United States)

Boraska, Vesna; Jerončić, Ana; Colonna, Vincenza; Southam, Lorraine; Nyholt, Dale R.; William Rayner, Nigel; Perry, John R.B.; Toniolo, Daniela; Albrecht, Eva; Ang, Wei; Bandinelli, Stefania; Barbalic, Maja; Barroso, Inês; Beckmann, Jacques S.; Biffar, Reiner; Boomsma, Dorret; Campbell, Harry; Corre, Tanguy; Erdmann, Jeanette; Esko, Tõnu; Fischer, Krista; Franceschini, Nora; Frayling, Timothy M.; Girotto, Giorgia; Gonzalez, Juan R.; Harris, Tamara B.; Heath, Andrew C.; Heid, Iris M.; Hoffmann, Wolfgang; Hofman, Albert; Horikoshi, Momoko; Hua Zhao, Jing; Jackson, Anne U.; Hottenga, Jouke-Jan; Jula, Antti; Kähönen, Mika; Khaw, Kay-Tee; Kiemeney, Lambertus A.; Klopp, Norman; Kutalik, Zoltán; Lagou, Vasiliki; Launer, Lenore J.; Lehtimäki, Terho; Lemire, Mathieu; Lokki, Marja-Liisa; Loley, Christina; Luan, Jian'an; Mangino, Massimo; Mateo Leach, Irene; Medland, Sarah E.; Mihailov, Evelin; Montgomery, Grant W.; Navis, Gerjan; Newnham, John; Nieminen, Markku S.; Palotie, Aarno; Panoutsopoulou, Kalliope; Peters, Annette; Pirastu, Nicola; Polašek, Ozren; Rehnström, Karola; Ripatti, Samuli; Ritchie, Graham R.S.; Rivadeneira, Fernando; Robino, Antonietta; Samani, Nilesh J.; Shin, So-Youn; Sinisalo, Juha; Smit, Johannes H.; Soranzo, Nicole; Stolk, Lisette; Swinkels, Dorine W.; Tanaka, Toshiko; Teumer, Alexander; Tönjes, Anke; Traglia, Michela; Tuomilehto, Jaakko; Valsesia, Armand; van Gilst, Wiek H.; van Meurs, Joyce B.J.; Smith, Albert Vernon; Viikari, Jorma; Vink, Jacqueline M.; Waeber, Gerard; Warrington, Nicole M.; Widen, Elisabeth; Willemsen, Gonneke; Wright, Alan F.; Zanke, Brent W.; Zgaga, Lina; Boehnke, Michael; d'Adamo, Adamo Pio; de Geus, Eco; Demerath, Ellen W.; den Heijer, Martin; Eriksson, Johan G.; Ferrucci, Luigi; Gieger, Christian; Gudnason, Vilmundur; Hayward, Caroline; Hengstenberg, Christian; Hudson, Thomas J.; Järvelin, Marjo-Riitta; Kogevinas, Manolis; Loos, Ruth J.F.; Martin, Nicholas G.; Metspalu, Andres; Pennell, Craig E.; Penninx, Brenda W.; Perola, Markus; Raitakari, Olli; Salomaa, Veikko; Schreiber, Stefan; Schunkert, Heribert; Spector, Tim D.; Stumvoll, Michael; Uitterlinden, André G.; Ulivi, Sheila; van der Harst, Pim; Vollenweider, Peter; Völzke, Henry; Wareham, Nicholas J.; Wichmann, H.-Erich; Wilson, James F.; Rudan, Igor; Xue, Yali; Zeggini, Eleftheria

2012-01-01

The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10−8) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ∼115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits. PMID:22843499

COMPARISON OF THE TEST VARIANTS IN ENTRANCE EXAMINATIONS

Directory of Open Access Journals (Sweden)

KLŮFA, Jindřich

2016-12-01

Full Text Available The paper contains an analysis of the differences of number of points in the test in mathematics between test variants, which were used in the entrance examinations at the Faculty of Business Administration at University of Economics in Prague in 2015. The differences may arise due to the varying difficulty of variants for students, but also because of the different level of knowledge of students who write these variants. This problem we shall study in present paper. The aim of this paper is to study dependence of the results of entrance examinations in mathematics on test variants. The results obtained will be used for further improvement of the admission process at University of Economics.

Superior and inferior vena cavae: Embryology, variants, and pathology

International Nuclear Information System (INIS)

Mendelson, D.S.; Mitty, H.; Janus, C.; Gendal, E.; Berson, B.

1987-01-01

The superior and inferior venae cavae may be involved in a host of disease processes. Knowledge of the normal anatomy and variants of these structures is valuable in interpreting plain films and the results of angiographic procedures and all cross-sectional modalities. The authors review the embryology of venae cavae and proceed to describe their normal anatomy and variants. An awareness of the variants can prevent mistaking variants for pathologic processes. Finally, the authors describe pathology involving these vessels and demonstrate the radiographic manifestations

Golden Rule of Morphology and Variants of Word forms

Directory of Open Access Journals (Sweden)

Hlaváčová Jaroslava

2017-12-01

Full Text Available In many languages, some words can be written in several ways. We call them variants. Values of all their morphological categories are identical, which leads to an identical morphological tag. Together with the identical lemma, we have two or more wordforms with the same morphological description. This ambiguity may cause problems in various NLP applications. There are two types of variants – those affecting the whole paradigm (global variants and those affecting only wordforms sharing some combinations of morphological values (inflectional variants. In the paper, we propose means how to tag all wordforms, including their variants, unambiguously. We call this requirement “Golden rule of morphology”. The paper deals mainly with Czech, but the ideas can be applied to other languages as well.

Effects of worked examples, example-problem, and problem-example pairs on novices’ learning

NARCIS (Netherlands)

Van Gog, Tamara; Kester, Liesbeth; Paas, Fred

2010-01-01

Van Gog, T., Kester, L., & Paas, F. (2011). Effects of worked examples, example-problem, and problem-example pairs on novices’ learning. Contemporary Educational Psychology, 36(3), 212-218. doi:10.1016/j.cedpsych.2010.10.004

N-terminal nesprin-2 variants regulate β-catenin signalling

Energy Technology Data Exchange (ETDEWEB)

Zhang, Qiuping; Minaisah, Rose-Marie; Ferraro, Elisa; Li, Chen; Porter, Lauren J.; Zhou, Can; Gao, Fang; Zhang, Junyi; Rajgor, Dipen; Autore, Flavia; Shanahan, Catherine M.; Warren, Derek T., E-mail: derek.warren@kcl.ac.uk

2016-07-15

The spatial compartmentalisation of biochemical signalling pathways is essential for cell function. Nesprins are a multi-isomeric family of proteins that have emerged as signalling scaffolds, herein, we investigate the localisation and function of novel nesprin-2 N-terminal variants. We show that these nesprin-2 variants display cell specific distribution and reside in both the cytoplasm and nucleus. Immunofluorescence microscopy revealed that nesprin-2 N-terminal variants colocalised with β-catenin at cell-cell junctions in U2OS cells. Calcium switch assays demonstrated that nesprin-2 and β-catenin are lost from cell-cell junctions in low calcium conditions whereas emerin localisation at the NE remained unaltered, furthermore, an N-terminal fragment of nesprin-2 was sufficient for cell-cell junction localisation and interacted with β-catenin. Disruption of these N-terminal nesprin-2 variants, using siRNA depletion resulted in loss of β-catenin from cell-cell junctions, nuclear accumulation of active β-catenin and augmented β-catenin transcriptional activity. Importantly, we show that U2OS cells lack nesprin-2 giant, suggesting that the N-terminal nesprin-2 variants regulate β-catenin signalling independently of the NE. Together, these data identify N-terminal nesprin-2 variants as novel regulators of β-catenin signalling that tether β-catenin to cell-cell contacts to inhibit β-catenin transcriptional activity. - Highlights: • N-terminal nesprin-2 variants display cell specific expression patterns. • N-terminal spectrin repeats of nesprin-2 interact with β-catenin. • N-terminal nesprin-2 variants scaffold β-catenin at cell-cell junctions.. • Nesprin-2 variants play multiple roles in β-catenin signalling.

Fundamental Characteristics of Industrial Variant Specification Systems

DEFF Research Database (Denmark)

Hansen, Benjamin Loer; Hvam, Lars

2004-01-01

fundamental concepts related to this task, which are relevant to understand for academia and practitioners working with the subject. This is done through a description of variant specification tasks and typical aspects of system solutions. To support the description of variant specification tasks and systems...

Ways of Viewing Pictorial Plasticity

OpenAIRE

Maarten W. A. Wijntjes

2017-01-01

The plastic effect is historically used to denote various forms of stereopsis. The vivid impression of depth often associated with binocular stereopsis can also be achieved in other ways, for example, using a synopter. Accounts of this go back over a hundred years. These ways of viewing all aim to diminish sensorial evidence that the picture is physically flat. Although various viewing modes have been proposed in the literature, their effects have never been compared. In the current study, we...

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Directory of Open Access Journals (Sweden)

Bryony A. Thompson

2015-03-01

Full Text Available Inherited mutations in the DNA mismatch repair genes (MMR can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence variants has a direct impact on the management of patients and their families. For a significant proportion of cases sequence variants of uncertain clinical significance (also known as unclassified variants are identified, constituting a challenge for genetic counselling and clinical management of families. The effect on protein function of these variants is difficult to interpret. The presence or absence of MSI in tumours can aid in determining the pathogenicity of associated unclassified MMR gene variants. However, there are some considerations that need to be taken into account when using MSI for variant interpretation. The use of MSI and other tumour characteristics in MMR gene sequence variant classification will be explored in this review.

HFE gene variants affect iron in the brain.

Science.gov (United States)

Nandar, Wint; Connor, James R

2011-04-01

Iron accumulation in the brain and increased oxidative stress are consistent observations in many neurodegenerative diseases. Thus, we have begun examination into gene mutations or allelic variants that could be associated with loss of iron homeostasis. One of the mechanisms leading to iron overload is a mutation in the HFE gene, which is involved in iron metabolism. The 2 most common HFE gene variants are C282Y (1.9%) and H63D (8.9%). The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs. The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention. At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. Therefore, the HFE gene variants are proposed to be genetic modifiers or a risk factor for neurodegenerative diseases by establishing an enabling milieu for pathogenic agents. This review will discuss the current knowledge of the association of the HFE gene variants with neurodegenerative diseases: amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and ischemic stroke. Importantly, the data herein also begin to dispel the long-held view that the brain is protected from iron accumulation associated with the HFE mutations.

BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

Science.gov (United States)

Eccles, D. M.; Mitchell, G.; Monteiro, A. N. A.; Schmutzler, R.; Couch, F. J.; Spurdle, A. B.; Gómez-García, E. B.

2015-01-01

Background Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Design Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Results and conclusion Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system, will facilitate reclassification of variants for clinical use. PMID:26153499

Differential Expression Profile of ZFX Variants Discriminates Breast Cancer Subtypes

Science.gov (United States)

Pourkeramati, Fatemeh; Asadi, Malek Hossein; Shakeri, Shahryar; Farsinejad, Alireza

2018-05-13

ZFX is a transcriptional regulator in embryonic stem cells that plays an important role in pluripotency and self-renewal. ZFX is widely expressed in pluripotent stem cells and is down-regulated during differentiation of embryonic stem cells. ZFX has five different variants that encode three different protein isoforms. While several reports have determined the overexpression of ZFX in a variety of somatic cancers, the expression of ZFX-spliced variants in cancer cells is not well-understood. We investigated the expression of ZFX variants in a series of breast cancer tissues and cell lines using quantitative PCR. The expression of ZFX variant 1/3 was higher in tumor tissue compared to marginal tissue. In contrast, the ZFX variant 5 was down-regulated in tumor tissues. While the ZFX variant 1/3 and ZFX variant 5 expression significantly increased in low-grade tumors, ZFX variant 4 was strongly expressed in high-grade tumors and demonstrating lymphatic invasion. In addition, our result revealed a significant association between the HER2 status and the expression of ZFX-spliced variants. Our data suggest that the expression of ZFX-spliced transcripts varies between different types of breast cancer and may contribute to their tumorigenesis process. Hence, ZFX-spliced transcripts could be considered as novel tumor markers with a probable value in diagnosis, prognosis, and therapy of breast cancer.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Science.gov (United States)

Jordan, Valerie K.; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J.; Balci, Tugce B.; Carter, Melissa T.; Bernat, John A.; Moccia, Amanda N.; Srivastava, Anshika; Martin, Donna M.; Bielas, Stephanie L.; Pappas, John; Svoboda, Melissa D.; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M.; Scaglia, Fernando; Kohler, Jennefer N.; Bernstein, Jonathan A.; Dries, Annika M.; Rosenfeld, Jill A.; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H.; Bi, Weimin; Scott, Daryl A.

2018-01-01

Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype–phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7. PMID:29330883

Poisson Approximation-Based Score Test for Detecting Association of Rare Variants.

Science.gov (United States)

Fang, Hongyan; Zhang, Hong; Yang, Yaning

2016-07-01

Genome-wide association study (GWAS) has achieved great success in identifying genetic variants, but the nature of GWAS has determined its inherent limitations. Under the common disease rare variants (CDRV) hypothesis, the traditional association analysis methods commonly used in GWAS for common variants do not have enough power for detecting rare variants with a limited sample size. As a solution to this problem, pooling rare variants by their functions provides an efficient way for identifying susceptible genes. Rare variant typically have low frequencies of minor alleles, and the distribution of the total number of minor alleles of the rare variants can be approximated by a Poisson distribution. Based on this fact, we propose a new test method, the Poisson Approximation-based Score Test (PAST), for association analysis of rare variants. Two testing methods, namely, ePAST and mPAST, are proposed based on different strategies of pooling rare variants. Simulation results and application to the CRESCENDO cohort data show that our methods are more powerful than the existing methods. © 2016 John Wiley & Sons Ltd/University College London.

Cellulase variants with improved expression, activity and stability, and use thereof

Science.gov (United States)

Aehle, Wolfgang; Bott, Richard R; Bower, Benjamin; Caspi, Jonathan; Estell, David A; Goedegebuur, Frits; Hommes, Ronaldus W.J.; Kaper, Thijs; Kelemen, Bradley; Kralj, Slavko; Van Lieshout, Johan; Nikolaev, Igor; Van Stigt Thans, Sander; Wallace, Louise; Vogtentanz, Gudrun; Sandgren, Mats

2014-03-25

The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

Cellulase variants with improved expression, activity and stability, and use thereof

Energy Technology Data Exchange (ETDEWEB)

Aehle, Wolfgang; Bott, Richard R.; Bower, Benjamin S.; Caspi, Jonathan; Goedegebuur, Frits; Hommes, Ronaldus Wilhelmus Joannes; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Van Lieshout, Johannes Franciscus Thomas; Nikolaev, Igor; Wallace, Louise; Van Stigt Thans, Sander; Vogtentanz, Gudrun; Sandgren, Mats

2016-12-20

The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

Genetic variants of ghrelin in metabolic disorders.

Science.gov (United States)

Ukkola, Olavi

2011-11-01

An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

Isolation of a variant of Candida albicans.

Science.gov (United States)

Buckley, H R; Price, M R; Daneo-Moore, L

1982-01-01

During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell. Images PMID:6752021

Isolation of a variant of Candida albicans.

Science.gov (United States)

Buckley, H R; Price, M R; Daneo-Moore, L

1982-09-01

During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell.

Dataset of mitochondrial genome variants in oncocytic tumors

Directory of Open Access Journals (Sweden)

Lihua Lyu

2018-04-01

Full Text Available This dataset presents the mitochondrial genome variants associated with oncocytic tumors. These data were obtained by Sanger sequencing of the whole mitochondrial genomes of oncocytic tumors and the adjacent normal tissues from 32 patients. The mtDNA variants are identified after compared with the revised Cambridge sequence, excluding those defining haplogroups of our patients. The pathogenic prediction for the novel missense variants found in this study was performed with the Mitimpact 2 program.

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

Science.gov (United States)

Saha, N; Hong, S H; Wong, H A; Jeyaseelan, K; Tay, J S

1991-12-01

Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.

Characterization of form variants of Xenorhabdus luminescens.

NARCIS (Netherlands)

Gerritsen, L.J.M.; Raay, de G.; Smits, P.H.

1992-01-01

From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in

Identificação de variantes de hemoglobina em doadores de sangue Identification of hemoglobin variants in blood donor

Directory of Open Access Journals (Sweden)

Ana C. Bonini-Domingos

2004-03-01

Full Text Available Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different regions. The phenotype may be influenced by environmental and genetic factors and by migration. An understanding of these genetic diseases is important for the health and quality of life of the population. In this work we assessed the presence of Hb variants in blood donors from São José do Rio Preto and region, and we observed the occurrence of variants including Hb S and Hb C but in particular the so-called "S-Like" variants. Good determination of the forms of variant hemoglobins is very important to give better guidance to blood donors and their families, and to improve the quality of blood transfusion.

Mouse ribosomal RNA genes contain multiple differentially regulated variants.

Directory of Open Access Journals (Sweden)

Hung Tseng

2008-03-01

Full Text Available Previous cytogenetic studies suggest that various rDNA chromosomal loci are not equally active in different cell types. Consistent with this variability, rDNA polymorphism is well documented in human and mouse. However, attempts to identify molecularly rDNA variant types, which are regulated individually (i.e., independent of other rDNA variants and tissue-specifically, have not been successful. We report here the molecular cloning and characterization of seven mouse rDNA variants (v-rDNA. The identification of these v-rDNAs was based on restriction fragment length polymorphisms (RFLPs, which are conserved among individuals and mouse strains. The total copy number of the identified variants is less than 100 and the copy number of each individual variant ranges from 4 to 15. Sequence analysis of the cloned v-rDNA identified variant-specific single nucleotide polymorphisms (SNPs in the transcribed region. These SNPs were used to develop a set of variant-specific PCR assays, which permitted analysis of the v-rDNAs' expression profiles in various tissues. These profiles show that three v-rDNAs are expressed in all tissues (constitutively active, two are expressed in some tissues (selectively active, and two are not expressed (silent. These expression profiles were observed in six individuals from three mouse strains, suggesting the pattern is not randomly determined. Thus, the mouse rDNA array likely consists of genetically distinct variants, and some are regulated tissue-specifically. Our results provide the first molecular evidence for cell-type-specific regulation of a subset of rDNA.

Visual communication with Haitian women: a look at pictorial literacy.

Science.gov (United States)

Gustafson, M B

1986-06-01

A study of village women in Haiti which presents baseline data from their responses to stylized health education pictures is reported. The study questioned the concept that pictorial messages were accurately recognized and self-explanatory to nonliterate Haitian village women. The investigator, who used a descriptive survey, sought answers to a major and a related question: what do nonliterate Haitian village women recognize in selected health education pictures; and are their differences in picture recognition traceable to the complexity of the pictures. There were 110 women (25 from a mountain village, 25 from a plains village, 25 from a seacoast village, and 35 urban dwellers) who responded to 9 health education pictures. The women ranged in age from 18-80 years of age; 32 (29%) had gone to school for a range of an "unknown time" to 8 years. 47% of those who had gone to school indicated that they could read. The investigator rated the verbatim responses to the pictures for accuracy as: accurate, overinclusive, underinclusive, inaccurate, and do not know. The quantitative analysis of this data revealed that the accuracy levels decreased as the complexity level increased. This is best shown in the 129 (39%) accurate responses in the low level; 6 (1.8%) in the moderate level; and no accurate responses in the high complexity level. An unexpected finding was the highest number of inaccurate responses (n = 83, 25.1%) found in the low complexity level, while the moderate and high levels both showed 36 (10.8%). In addition to the differences in accuracy in picture recognition based on picture complexity, there were significant differences on the chi-square test which confirmed the assertion of the question that picture recognition is traceable to the complexity of the picture. These findings are consistent with the picture complexity studies of Holmes, Jelliffe, and Kwansa.

Analysis Of The Profitability of Investment In Renewable Energy Sources On The Example of A Semi-Detached House

Directory of Open Access Journals (Sweden)

Radziszewska-Zielina Elżbieta

2016-01-01

Full Text Available The paper presents an analysis of the profitability of investment in a selection of systems based on renewable energy sources on the example of a semi-detached house with a floor area of nearly 150 m2. The analysis was conducted in three variants:1 the application of a biomass boiler, solar collectors and photovoltaic panels; 2 a heat pump, solar collectors and photovoltaic panels; 3 a heat pump, solar collectors and a wind turbine. Next, the proposed solutions were compared with a traditional heating system featuring a gas-powered boiler and obtaining electricity through the power distribution grid. The investment and operational costs were calculated after the selection of the appropriate equipment. The example under analysis indicates that variant 3 entailed the highest investment costs (the purchase and fitting of a heat pump as well as the drilling required to install underground pumps. Traditional technical solutions were proven to produce the highest costs. The investment profitability analysis was conducted using both the simple and discounted methods of evaluating profitability. It was established that variant 3 yielded the shortest discounted payback period - less than 13 years. It is estimated that the investment will reach the break-even point after this time. As a summary, it must be noted that the profitability of a given investment depends on the adopted technical solutions. Due to high initials costs, investors often lack interest in the purchase and installation of renewable energy generation systems; however, the contribution of the investors can be lowered with the use of subsidies and price reductions regarding the installation of renewable energy generation systems. We can observe a decrease in the price of the most popular and efficient renewable energy systems.

Ultrasonographic imaging of papillary thyroid carcinoma variants

Energy Technology Data Exchange (ETDEWEB)

Shin, Jung Hee [Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2017-04-15

Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

Treatment of spelling variants in Setswana monolingual dictionaries

African Journals Online (AJOL)

user

. ..... Table 8: Variants of Names of persons and places. Setswana variants. English. Aforika, Aferika. Africa. Baebele, Babele, Beibele. Bible. Ennyelane, Engelane ..... MWEs. As in variation amongst individual words, the MWEs such as idioms.

Human papillomavirus variants among Inuit women in northern Quebec, Canada.

Science.gov (United States)

Gauthier, Barbara; Coutlée, Francois; Franco, Eduardo L; Brassard, Paul

2015-01-01

Inuit communities in northern Quebec have high rates of human papillomavirus (HPV) infection, cervical cancer and cervical cancer-related mortality as compared to the Canadian population. HPV types can be further classified as intratypic variants based on the extent of homology in their nucleotide sequences. There is limited information on the distribution of intratypic variants in circumpolar areas. Our goal was to describe the HPV intratypic variants and associated baseline characteristics. We collected cervical cell samples in 2002-2006 from 676 Inuit women between the ages of 15 and 69 years in Nunavik. DNA isolates from high-risk HPVs were sequenced to determine the intratypic variant. There were 149 women that were positive for HPVs 16, 18, 31, 33, 35, 45, 52, 56 or 58 during follow-up. There were 5 different HPV16 variants, all of European lineage, among the 57 women positive for this type. There were 8 different variants of HPV18 present and all were of European lineage (n=21). The majority of samples of HPV31 (n=52) were of lineage B. The number of isolates and diversity of the other HPV types was low. Age was the only covariate associated with HPV16 variant category. These frequencies are similar to what was seen in another circumpolar region of Canada, although there appears to be less diversity as only European variants were detected. This study shows that most variants were clustered in one lineage for each HPV type.

Genetic variants influencing phenotypic variance heterogeneity.

Science.gov (United States)

Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan; Gyllensten, Ulf; Johansson, Åsa

2018-03-01

Most genetic studies identify genetic variants associated with disease risk or with the mean value of a quantitative trait. More rarely, genetic variants associated with variance heterogeneity are considered. In this study, we have identified such variance single-nucleotide polymorphisms (vSNPs) and examined if these represent biological gene × gene or gene × environment interactions or statistical artifacts caused by multiple linked genetic variants influencing the same phenotype. We have performed a genome-wide study, to identify vSNPs associated with variance heterogeneity in DNA methylation levels. Genotype data from over 10 million single-nucleotide polymorphisms (SNPs), and DNA methylation levels at over 430 000 CpG sites, were analyzed in 729 individuals. We identified vSNPs for 7195 CpG sites (P mean DNA methylation levels. We further showed that variance heterogeneity between genotypes mainly represents additional, often rare, SNPs in linkage disequilibrium (LD) with the respective vSNP and for some vSNPs, multiple low frequency variants co-segregating with one of the vSNP alleles. Therefore, our results suggest that variance heterogeneity of DNA methylation mainly represents phenotypic effects by multiple SNPs, rather than biological interactions. Such effects may also be important for interpreting variance heterogeneity of more complex clinical phenotypes.

Method of generating ploynucleotides encoding enhanced folding variants

Energy Technology Data Exchange (ETDEWEB)

Bradbury, Andrew M.; Kiss, Csaba; Waldo, Geoffrey S.

2017-05-02

The invention provides directed evolution methods for improving the folding, solubility and stability (including thermostability) characteristics of polypeptides. In one aspect, the invention provides a method for generating folding and stability-enhanced variants of proteins, including but not limited to fluorescent proteins, chromophoric proteins and enzymes. In another aspect, the invention provides methods for generating thermostable variants of a target protein or polypeptide via an internal destabilization baiting strategy. Internally destabilization a protein of interest is achieved by inserting a heterologous, folding-destabilizing sequence (folding interference domain) within DNA encoding the protein of interest, evolving the protein sequences adjacent to the heterologous insertion to overcome the destabilization (using any number of mutagenesis methods), thereby creating a library of variants. The variants in the library are expressed, and those with enhanced folding characteristics selected.

Influenza A (H3N2) Variant Virus

Science.gov (United States)

... Swine Variant Pandemic Other Influenza A (H3N2) Variant Virus Language: English (US) Español Recommend on Facebook Tweet Share Compartir Influenza viruses that normally circulate in pigs are called “variant” ...

Adult Smokers? Reactions to Pictorial Health Warning Labels on Cigarette Packs in Thailand and Moderating Effects of Type of Cigarette Smoked: Findings From the International Tobacco Control Southeast Asia Survey

OpenAIRE

Yong, Hua-Hie; Fong, Geoffrey T.; Driezen, Pete; Borland, Ron; Quah, Anne C. K.; Sirirassamee, Buppha; Hamann, Stephen; Omar, Maizurah

2013-01-01

Introduction: In this study, we aimed to examine, in Thailand, the impact on smokers? reported awareness of and their cognitive and behavioral reactions following the change from text-only to pictorial warnings printed on cigarette packs. We also sought to explore differences by type of cigarette smoked (roll-your-own [RYO] vs. factory-made [FM] cigarettes). Methods: Data came from the International Tobacco Control Southeast Asia Survey, conducted in Thailand and Malaysia, where a representat...

The role of verbal and pictorial information in multimodal incidental acquisition of foreign language vocabulary.

Science.gov (United States)

Bisson, Marie-Josée; van Heuven, Walter J B; Conklin, Kathy; Tunney, Richard J

2015-01-01

This study used eye tracking to investigate the allocation of attention to multimodal stimuli during an incidental learning situation, as well as its impact on subsequent explicit learning. Participants were exposed to foreign language (FL) auditory words on their own, in conjunction with written native language (NL) translations, or with both written NL translations and pictures. Incidental acquisition of FL words was assessed the following day through an explicit learning task where participants learned to recognize translation equivalents, as well as one week later through recall and translation recognition tests. Results showed higher accuracy scores in the explicit learning task for FL words presented with meaning during incidental learning, whether written meaning or both written meaning and picture, than for FL words presented auditorily only. However, participants recalled significantly more FL words after a week delay if they had been presented with a picture during incidental learning. In addition, the time spent looking at the pictures during incidental learning significantly predicted recognition and recall scores one week later. Overall, results demonstrated the impact of exposure to multimodal stimuli on subsequent explicit learning, as well as the important role that pictorial information can play in incidental vocabulary acquisition.

Ankle fracture spur sign is pathognomonic for a variant ankle fracture.

Science.gov (United States)

Hinds, Richard M; Garner, Matthew R; Lazaro, Lionel E; Warner, Stephen J; Loftus, Michael L; Birnbaum, Jacqueline F; Burket, Jayme C; Lorich, Dean G

2015-02-01

The hyperplantarflexion variant ankle fracture is composed of a posterior tibial lip fracture with posterolateral and posteromedial fracture fragments separated by a vertical fracture line. This infrequently reported injury pattern often includes an associated "spur sign" or double cortical density at the inferomedial tibial metaphysis. The objective of this study was to quantitatively establish the association of the ankle fracture spur sign with the hyperplantarflexion variant ankle fracture. Our clinical database of operative ankle fractures was retrospectively reviewed for the incidence of hyperplantarflexion variant and nonvariant ankle fractures as determined by assessment of injury radiographs, preoperative advanced imaging, and intraoperative observation. Injury radiographs were then evaluated for the presence of the spur sign, and association between the spur sign and variant fractures was analyzed. The incidence of the hyperplantarflexion variant fracture among all ankle fractures was 6.7% (43/640). The spur sign was present in 79% (34/43) of variant fractures and absent in all nonvariant fractures, conferring a specificity of 100% in identifying variant fractures. Positive predictive value and negative predictive value were 100% and 99%, respectively. The ankle fracture spur sign was pathognomonic for the hyperplantarflexion variant ankle fracture. It is important to identify variant fractures preoperatively as patient positioning, operative approach, and fixation construct of variant fractures often differ from those employed for osteosynthesis of nonvariant fractures. Identification of the spur sign should prompt acquisition of advanced imaging to formulate an appropriate operative plan to address the variant fracture pattern. Level III, retrospective comparative study. © The Author(s) 2014.

Holoprosencephaly Variant

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2003-01-01

Full Text Available The clinical manifestations in 15 patients (6 boys and 9 girls with middle interhemispheric variant (MIH of holoprosencephaly (HPE were compared with classic subtypes (alobar, semilobar, and lobar of HPE in a multicenter study at Stanford University School of Medicine and Lucile Packard Children’s Hospital; Children’s Hospital of Philadelphia; University of California at San Francisco; Texas Scottish Rite Hospital, Dallas; and Kennedy Krieger Institute, Baltimore, MD.

Investigation of the role of TCF4 rare sequence variants in schizophrenia.

Science.gov (United States)

Basmanav, F Buket; Forstner, Andreas J; Fier, Heide; Herms, Stefan; Meier, Sandra; Degenhardt, Franziska; Hoffmann, Per; Barth, Sandra; Fricker, Nadine; Strohmaier, Jana; Witt, Stephanie H; Ludwig, Michael; Schmael, Christine; Moebus, Susanne; Maier, Wolfgang; Mössner, Rainald; Rujescu, Dan; Rietschel, Marcella; Lange, Christoph; Nöthen, Markus M; Cichon, Sven

2015-07-01

Transcription factor 4 (TCF4) is one of the most robust of all reported schizophrenia risk loci and is supported by several genetic and functional lines of evidence. While numerous studies have implicated common genetic variation at TCF4 in schizophrenia risk, the role of rare, small-sized variants at this locus-such as single nucleotide variants and short indels which are below the resolution of chip-based arrays requires further exploration. The aim of the present study was to investigate the association between rare TCF4 sequence variants and schizophrenia. Exon-targeted resequencing was performed in 190 German schizophrenia patients. Six rare variants at the coding exons and flanking sequences of the TCF4 gene were identified, including two missense variants and one splice site variant. These six variants were then pooled with nine additional rare variants identified in 379 European participants of the 1000 Genomes Project, and all 15 variants were genotyped in an independent German sample (n = 1,808 patients; n = 2,261 controls). These data were then analyzed using six statistical methods developed for the association analysis of rare variants. No significant association (P power analyses suggest that further research into the possible involvement of rare TCF4 sequence variants in schizophrenia risk is warranted by the assessment of larger cohorts with higher statistical power to identify rare variant associations. © 2015 Wiley Periodicals, Inc.

SDS, a structural disruption score for assessment of missense variant deleteriousness

Directory of Open Access Journals (Sweden)

Thanawadee ePreeprem

2014-04-01

Full Text Available We have developed a novel structure-based evaluation for missense variants that explicitly models protein structure and amino acid properties to predict the likelihood that a variant disrupts protein function. A structural disruption score (SDS is introduced as a measure to depict the likelihood that a case variant is functional. The score is constructed using characteristics that distinguish between causal and neutral variants within a group of proteins. The SDS score is correlated with standard sequence-based deleteriousness, but shows promise for improving discrimination between neutral and causal variants at less conserved sites.The prediction was performed on 3-dimentional structures of 57 gene products whose homozygous SNPs were identified as case-exclusive variants in an exome sequencing study of epilepsy disorders. We contrasted the candidate epilepsy variants with scores for likely benign variants found in the EVS database, and for positive control variants in the same genes that are suspected to promote a range of diseases. To derive a characteristic profile of damaging SNPs, we transformed continuous scores into categorical variables based on the score distribution of each measurement, collected from all possible SNPs in this protein set, where extreme measures were assumed to be deleterious. A second epilepsy dataset was used to replicate the findings. Causal variants tend to receive higher sequence-based deleterious scores, induce larger physico-chemical changes between amino acid pairs, locate in protein domains, buried sites or on conserved protein surface clusters, and cause protein destabilization, relative to negative controls. These measures were agglomerated for each variant. A list of nine high-priority putative functional variants for epilepsy was generated. Our newly developed SDS protocol facilitates SNP prioritization for experimental validation.

Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.

Science.gov (United States)

Tada, Hayato; Kawashiri, Masa-Aki; Yamagishi, Masakazu

2017-04-01

Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings. More recently, Mendelian randomization studies have preceded randomized controlled trials. When the on-target/off-target effects of rare variants and common variants exhibit the same direction, novel drugs targeting molecules identified by investigations of rare Mendelian lipid disorders could be promising. Such a strategy could aid in the search for drug discovery seeds other than those for dyslipidemias.

A variational Bayes discrete mixture test for rare variant association.

Science.gov (United States)

Logsdon, Benjamin A; Dai, James Y; Auer, Paul L; Johnsen, Jill M; Ganesh, Santhi K; Smith, Nicholas L; Wilson, James G; Tracy, Russell P; Lange, Leslie A; Jiao, Shuo; Rich, Stephen S; Lettre, Guillaume; Carlson, Christopher S; Jackson, Rebecca D; O'Donnell, Christopher J; Wurfel, Mark M; Nickerson, Deborah A; Tang, Hua; Reiner, Alexander P; Kooperberg, Charles

2014-01-01

Recently, many statistical methods have been proposed to test for associations between rare genetic variants and complex traits. Most of these methods test for association by aggregating genetic variations within a predefined region, such as a gene. Although there is evidence that "aggregate" tests are more powerful than the single marker test, these tests generally ignore neutral variants and therefore are unable to identify specific variants driving the association with phenotype. We propose a novel aggregate rare-variant test that explicitly models a fraction of variants as neutral, tests associations at the gene-level, and infers the rare-variants driving the association. Simulations show that in the practical scenario where there are many variants within a given region of the genome with only a fraction causal our approach has greater power compared to other popular tests such as the Sequence Kernel Association Test (SKAT), the Weighted Sum Statistic (WSS), and the collapsing method of Morris and Zeggini (MZ). Our algorithm leverages a fast variational Bayes approximate inference methodology to scale to exome-wide analyses, a significant computational advantage over exact inference model selection methodologies. To demonstrate the efficacy of our methodology we test for associations between von Willebrand Factor (VWF) levels and VWF missense rare-variants imputed from the National Heart, Lung, and Blood Institute's Exome Sequencing project into 2,487 African Americans within the VWF gene. Our method suggests that a relatively small fraction (~10%) of the imputed rare missense variants within VWF are strongly associated with lower VWF levels in African Americans.

Razvojni put modne ilustracije 20. i 21. veka – likovno predstavljanje mode (u slikarstvu, modnim tablama i modnim ilustracijama / Development of Fashion Illustration during the 20th and 21st Century: Pictorial Representation of Fashion (in Painting, Fashion Plates and Fashion Illustrations

Directory of Open Access Journals (Sweden)

Vanja Kosanić

2013-12-01

Full Text Available The theme of this study is pictorial representation of costume and fashion in painting, fashion plates and fashion illustrations. Fashion illustration of the 20th century, specific in terms of freedom of interpretation that is given to the artists when representing fashion trends, has kept those elements of painting that are almost lost in contemporary art movements (for instance figuration. Through several specific examples in art history I will try to demonstrate the artist’s approach to the representation of costume. In this study I will also try to define the role of painting when it comes to the fashion, the role of fashion plates and then the role of fashion illustration created in the early 20th century. Finally, I will take a look at the fashion photography that in the beginning has found its role-models precisely in the fashion illustration and today is returning to the visual characteristics of renaissance art, and to the painting in general, from which everything has begun.

Glucose 6-phosphate dehydrogenase variants in Japan.

Science.gov (United States)

Miwa, S

1980-01-01

Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

Dandy-Walker variant in Coffin-Siris syndrome.

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Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

2001-04-22

We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. Copyright 2001 Wiley-Liss, Inc.

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

Science.gov (United States)

Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

2013-03-15

Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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Hector, Ralph D; Kalscheuer, Vera M; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E S; Cobb, Stuart R

2017-12-01

To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain.

Variant of Rett syndrome and CDKL5 gene

DEFF Research Database (Denmark)

Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt

2012-01-01

UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all...

Gain-of-function HCN2 variants in genetic epilepsy.

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Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A

2018-02-01

Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes. The p.S632W variant was identified in a patient with idiopathic photosensitive occipital epilepsy and segregated in the family. This variant was also independently identified in an unrelated patient with childhood absence seizures from a European cohort of 238 familial GGE cases. The p.V246M variant was identified in a patient with photo-sensitive GGE and his father diagnosed with juvenile myoclonic epilepsy. Functional studies revealed that both p.S632W and p.V246M had an identical functional impact including a depolarizing shift in the voltage dependence of activation that is consistent with a gain-of-function. In contrast, no biophysical changes resulted from the introduction of common population variants, p.E280K and p.A705T, and the p.R756C variant from EPGP that did not segregate with disease. Our data suggest that HCN2 variants can confer susceptibility to GGE via a gain-of-function mechanism. © 2017 Wiley Periodicals, Inc.

Effects of common hemoglobin variants on HbA1c measurements in China: results for α- and β-globin variants measured by six methods.

Science.gov (United States)

Xu, Anping; Chen, Weidong; Xia, Yong; Zhou, Yu; Ji, Ling

2018-04-07

HbA1c is a widely used biomarker for diabetes mellitus management. Here, we evaluated the accuracy of six methods for determining HbA1c values in Chinese patients with common α- and β-globin chains variants in China. Blood samples from normal subjects and individuals exhibiting hemoglobin variants were analyzed for HbA1c, using Sebia Capillarys 2 Flex Piercing (C2FP), Bio-Rad Variant II Turbo 2.0, Tosoh HLC-723 G8 (ver. 5.24), Arkray ADAMS A1c HA-8180V fast mode, Cobas c501 and Trinity Ultra2 systems. DNA sequencing revealed five common β-globin chain variants and three common α-globin chain variants. The most common variant was Hb E, followed by Hb New York, Hb J-Bangkok, Hb G-Coushatta, Hb Q-Thailand, Hb G-Honolulu, Hb Ube-2 and Hb G-Taipei. Variant II Turbo 2.0, Ultra2 and Cobas c501 showed good agreement with C2FP for most samples with variants. HLC-723 G8 yielded no HbA1c values for Hb J-Bangkok, Hb Q-Thailand and Hb G-Honolulu. Samples with Hb E, Hb G-Coushatta, Hb G-Taipei and Hb Ube-2 produced significant negative biases for HLC-723 G8. HA-8180V showed statistically significant differences for Hb E, Hb G-Coushatta, Hb G-Taipei, Hb Q-Thailand and Hb G-Honolulu. HA-8180V yielded no HbA1c values for Hb J-Bangkok. All methods showed good agreement for samples with Hb New York. Some common hemoglobin variants can interfere with HbA1c determination by the most popular methods in China.

The IBO germination quantitative trait locus encodes a phosphatase 2C-related variant with a nonsynonymous amino acid change that interferes with abscisic acid signaling.

Science.gov (United States)

Amiguet-Vercher, Amélia; Santuari, Luca; Gonzalez-Guzman, Miguel; Depuydt, Stephen; Rodriguez, Pedro L; Hardtke, Christian S

2015-02-01

Natural genetic variation is crucial for adaptability of plants to different environments. Seed dormancy prevents precocious germination in unsuitable conditions and is an adaptation to a major macro-environmental parameter, the seasonal variation in temperature and day length. Here we report the isolation of IBO, a quantitative trait locus (QTL) that governs c. 30% of germination rate variance in an Arabidopsis recombinant inbred line (RIL) population derived from the parental accessions Eilenburg-0 (Eil-0) and Loch Ness-0 (Lc-0). IBO encodes an uncharacterized phosphatase 2C-related protein, but neither the Eil-0 nor the Lc-0 variant, which differ in a single amino acid, have any appreciable phosphatase activity in in vitro assays. However, we found that the amino acid change in the Lc-0 variant of the IBO protein confers reduced germination rate. Moreover, unlike the Eil-0 variant of the protein, the Lc-0 variant can interfere with the activity of the phosphatase 2C ABSCISIC ACID INSENSITIVE 1 in vitro. This suggests that the Lc-0 variant possibly interferes with abscisic acid signaling, a notion that is supported by physiological assays. Thus, we isolated an example of a QTL allele with a nonsynonymous amino acid change that might mediate local adaptation of seed germination timing. © 2014 The Authors. New Phytologist © 2014 New Phytologist Trust.

Optical Properties Of Polymeric Films Of Bacteriorhodopsin And Its Functional Variants: New Materials For Optical Information Processing

Science.gov (United States)

Hampp, Norbert; Braeuchle, Christoph R.; Oesterhelt, Dieter

1990-01-01

Purple membrane (PM) from Halobacterium halobium consists of a two-dimensional crystal of the photochromic retinal protein bacteriorhodopsin (BR). Purple membrane embedded in inert polymer matrices can be used as reversible recording medium in holography. The thermal and photochemical stability (at least 100.000 recording cycles at room temperature), the high quantum yield (70%), the high resolution (~ 5000 lines/mm) and the wide spectral range (400-680 nm) of these films are promising features for any possible technical application. The variability of this material was restricted to chemical modifications of the chromophoric group for a long time. new class of BR based recording media is introduced by the availability of variants of BR with a modified amino acid sequence. After generation of a mutant strain PM variants can be easily produced by the same cultivation and purification procedures as the PM of the wildtype and therefore are available in virtually unlimited amounts, too. As an example the properties of PM-films containing the variant BR-326, which differs from the wildtype by a single amino acid, are reported here. The improved diffraction efficiency (~ 2-fold) and increased sensitivity (~ 50%) of films containing BR-326 give an impression of the new possibilities for optimizing reversible recording media by biochemical and gentechnological methods as an alternative or an addition to conventional chemical methods.

Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

Science.gov (United States)

Faye, Laura L.; Machiela, Mitchell J.; Kraft, Peter; Bull, Shelley B.; Sun, Lei

2013-01-01

Next generation sequencing has dramatically increased our ability to localize disease-causing variants by providing base-pair level information at costs increasingly feasible for the large sample sizes required to detect complex-trait associations. Yet, identification of causal variants within an established region of association remains a challenge. Counter-intuitively, certain factors that increase power to detect an associated region can decrease power to localize the causal variant. First, combining GWAS with imputation or low coverage sequencing to achieve the large sample sizes required for high power can have the unintended effect of producing differential genotyping error among SNPs. This tends to bias the relative evidence for association toward better genotyped SNPs. Second, re-use of GWAS data for fine-mapping exploits previous findings to ensure genome-wide significance in GWAS-associated regions. However, using GWAS findings to inform fine-mapping analysis can bias evidence away from the causal SNP toward the tag SNP and SNPs in high LD with the tag. Together these factors can reduce power to localize the causal SNP by more than half. Other strategies commonly employed to increase power to detect association, namely increasing sample size and using higher density genotyping arrays, can, in certain common scenarios, actually exacerbate these effects and further decrease power to localize causal variants. We develop a re-ranking procedure that accounts for these adverse effects and substantially improves the accuracy of causal SNP identification, often doubling the probability that the causal SNP is top-ranked. Application to the NCI BPC3 aggressive prostate cancer GWAS with imputation meta-analysis identified a new top SNP at 2 of 3 associated loci and several additional possible causal SNPs at these loci that may have otherwise been overlooked. This method is simple to implement using R scripts provided on the author's website. PMID:23950724

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

Science.gov (United States)

Eccles, D M; Mitchell, G; Monteiro, A N A; Schmutzler, R; Couch, F J; Spurdle, A B; Gómez-García, E B

2015-10-01

Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system, will facilitate reclassification of variants for clinical use. © The Author 2015. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

From Grey Scale B-Mode to Elastosonography: Multimodal Ultrasound Imaging in Meningioma Surgery-Pictorial Essay and Literature Review.

Science.gov (United States)

Prada, Francesco; Del Bene, Massimiliano; Moiraghi, Alessandro; Casali, Cecilia; Legnani, Federico Giuseppe; Saladino, Andrea; Perin, Alessandro; Vetrano, Ignazio Gaspare; Mattei, Luca; Richetta, Carla; Saini, Marco; DiMeco, Francesco

2015-01-01

The main goal in meningioma surgery is to achieve complete tumor removal, when possible, while improving or preserving patient neurological functions. Intraoperative imaging guidance is one fundamental tool for such achievement. In this regard, intra-operative ultrasound (ioUS) is a reliable solution to obtain real-time information during surgery and it has been applied in many different aspect of neurosurgery. In the last years, different ioUS modalities have been described: B-mode, Fusion Imaging with pre-operative acquired MRI, Doppler, contrast enhanced ultrasound (CEUS), and elastosonography. In this paper, we present our US based multimodal approach in meningioma surgery. We describe all the most relevant ioUS modalities and their intraoperative application to obtain precise and specific information regarding the lesion for a tailored approach in meningioma surgery. For each modality, we perform a review of the literature accompanied by a pictorial essay based on our routinely use of ioUS for meningioma resection.

Height-reducing variants and selection for short stature in Sardinia

NARCIS (Netherlands)

Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Ortega Del Vecchyo, Diego; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Gonçalo R; Novembre, John; Schlessinger, David; Cucca, Francesco

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent

Human papillomavirus type-16 variants in Quechua aboriginals from Argentina.

Science.gov (United States)

Picconi, María Alejandra; Alonio, Lidia Virginia; Sichero, Laura; Mbayed, Viviana; Villa, Luisa Lina; Gronda, Jorge; Campos, Rodolfo; Teyssié, Angélica

2003-04-01

Cervical carcinoma is the leading cause of cancer death in Quechua indians from Jujuy (northwestern Argentina). To determine the prevalence of HPV-16 variants, 106 HPV-16 positive cervical samples were studied, including 33 low-grade squamous intraepithelial lesions (LSIL), 28 high-grade squamous intraepithelial lesions (HSIL), 9 invasive cervical cancer (ICC), and 36 samples from women with normal colposcopy and cytology. HPV genome variability was examined in the L1 and E6 genes by PCR-hybridization. In a subset of 20 samples, a LCR fragment was also analyzed by PCR-sequencing. Most variants belonged to the European branch with subtle differences that depended on the viral gene fragment studied. Only about 10% of the specimens had non-European variants, including eight Asian-American, two Asian, and one North-American-1. E6 gene analysis revealed that 43% of the samples were identical to HPV-16 prototype, while 57% corresponded to variants. Interestingly, the majority (87%) of normal smears had HPV-16 prototype, whereas variants were detected mainly in SIL and ICC. LCR sequencing yielded 80% of variants, including 69% of European, 19% Asian-American, and 12% Asian. We identified a new variant, the Argentine Quechua-51 (AQ-51), similar to B-14 plus two additional changes: G7842-->A and A7837-->C; phylogenetic inference allocated it in the Asian-American branch. The high proportion of European variants may reflect Spanish colonial influence on these native Inca descendants. The predominance of HPV-16 variants in pathologic samples when compared to normal controls could have implications for the natural history of cervical lesions. Copyright 2003 Wiley-Liss, Inc.

Managing Process Variants in the Process Life Cycle

NARCIS (Netherlands)

Hallerbach, A.; Bauer, Th.; Reichert, M.U.

2007-01-01

When designing process-aware information systems, often variants of the same process have to be specified. Each variant then constitutes an adjustment of a particular process to specific requirements building the process context. Current Business Process Management (BPM) tools do not adequately

Genetics Home Reference: GM2-gangliosidosis, AB variant

Science.gov (United States)

... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

Science.gov (United States)

Romero-Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila M, Lorena; Casas-Gómez, María Consuelo; Briceño Balcázar, Ignacio

2015-10-01

Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

Vaginal practices among women at high risk of HIV infection in Uganda and Tanzania: recorded behaviour from a daily pictorial diary.

Directory of Open Access Journals (Sweden)

Suzanna C Francis

Full Text Available BACKGROUND: Intravaginal practices (IVP are highly prevalent in sub-Saharan African and have been implicated as risk factors for HIV acquisition. However, types of IVP vary between populations, and detailed information on IVP among women at risk for HIV in different populations is needed. We investigated IVP among women who practice transactional sex in two populations: semi-urban, facility workers in Tanzania who engage in opportunistic sex work; and urban, self-identified sex workers and bar workers in Uganda. The aim of the study was to describe and compare IVP using a daily pictorial diary. METHODOLOGY/PRINCIPAL FINDINGS: Two hundred women were recruited from a HIV prevention intervention feasibility study in Kampala, Uganda and in North-West Tanzania. Women were given diaries to record IVP daily for six weeks. Baseline data showed that Ugandan participants had more lifetime partners and transactional sex than Tanzanian participants. Results from the diary showed that 96% of Tanzanian participants and 100% of Ugandan participants reported intravaginal cleansing during the six week study period. The most common types of cleansing were with water only or water and soap. In both countries, intravaginal insertion (e.g. with herbs was less common than cleansing, but insertion was practiced by more participants in Uganda (46% than in Tanzania (10%. In Uganda, participants also reported more frequent sex, and more insertion related to sex. In both populations, cleansing was more often reported on days with reported sex and during menstruation, and in Uganda, when participants experienced vaginal discomfort. Participants were more likely to cleanse after sex if they reported no condom use. CONCLUSIONS: While intravaginal cleansing was commonly practiced in both cohorts, there was higher frequency of cleansing and insertion in Uganda. Differences in IVP were likely to reflect differences in sexual behaviour between populations, and may warrant

Genetics in psychiatry: common variant association studies

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Buxbaum Joseph D

2010-03-01

Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

Genetics Home Reference: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

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... SBBYS variant Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Printable PDF Open All Close All Enable ... collapse boxes. Description The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare ...

Warty Carcinoma Penis: An Uncommon Variant

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Sushma Thapa

2017-01-01

Full Text Available Penile carcinoma frequency varies widely in different parts of the world and comprises 1–10% of all the malignancies in males. Majority of the cases of penile carcinoma are squamous cell carcinoma of penis comprising 60% to 70% of all cases. Warty carcinoma of penis is an unusual neoplasm and a variant of penile squamous cell carcinoma comprising 5%–10% of all the variants. The other histological variants include basaloid, verrucous, papillary, sarcomatous, mixed, and adenosquamous carcinoma. The various histological entities with an exophytic papillary lesions including warty carcinoma are together referred to as the “verruciform” group of neoplasms. The warty carcinoma has to be differentiated from these lesions and is typically distinguished by histological features of hyperkeratosis, arborescent papillomatosis, acanthosis, and prominent koilocytosis with nuclear pleomorphism. We present a case of 65-year-old male with growth measuring 6×4 cm in the penis who underwent total penectomy and was diagnosed as warty carcinoma penis.

Cryptanalysis of RSA and its variants

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Hinek, M Jason

2009-01-01

Thirty years after RSA was first publicized, it remains an active research area. Although several good surveys exist, they are either slightly outdated or only focus on one type of attack. Offering an updated look at this field, Cryptanalysis of RSA and Its Variants presents the best known mathematical attacks on RSA and its main variants, including CRT-RSA, multi-prime RSA, and multi-power RSA. Divided into three parts, the book first introduces RSA and reviews the mathematical background needed for the majority of attacks described in the remainder of the text. It then brings together all of the most popular mathematical attacks on RSA and its variants. For each attack presented, the author includes a mathematical proof if possible or a mathematical justification for attacks that rely on assumptions. For the attacks that cannot be proven, he gives experimental evidence to illustrate their practical effectiveness. Focusing on mathematical attacks that exploit the structure of RSA and specific parameter choic...

Numerically-quantified two dimensionality of microstructure evolution accompanying variant selection of FePd

International Nuclear Information System (INIS)

Ueshima, N; Yoshiya, M; Yasuda, H; Fukuda, T; Kakeshita, T

2015-01-01

Through three-dimensional (3D) simulations of microstructure evolution by phase-field modeling (PFM), microstructures have been quantified during their time evolution by an image processing technique with particular attention to the shape of variants in the course of variant selection. It is found that the emerging variants exhibit planar shapes rather than 3D shapes due to the elastic field around the variants arising upon disorder-to-order transition to the L1 0 phase. The two-dimensionality is more pronounced as variant selection proceeds. Although three equivalent variants compete for dominance under an external field, one of the three variants vanishes before final competition occurs between the remaining variants, which can be explained by the elastic strain energy. These numerical analyses provide better understanding of the microstructure evolution in a more quantitative manner, including the small influence of the third variant, and the results obtained confirm that the understanding of variant selection obtained from two-dimensional (2D) simulations by PFM is valid. (paper)

Assessment of Functional Effects of Unclassified Genetic Variants

NARCIS (Netherlands)

Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

2008-01-01

Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

Assessment of Functional Effects of Unclassified Genetic Variants

NARCIS (Netherlands)

Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

Canine parvovirus: the worldwide occurrence of antigenic variants.

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Miranda, Carla; Thompson, Gertrude

2016-09-01

The most important enteric virus infecting canids is canine parvovirus type 2 (CPV-2). CPV is the aetiologic agent of a contagious disease, mainly characterized by clinical gastroenteritis signs in younger dogs. CPV-2 emerged as a new virus in the late 1970s, which could infect domestic dogs, and became distributed in the global dog population within 2 years. A few years later, the virus's original type was replaced by a new genetic and antigenic variant, called CPV-2a. Around 1984 and 2000, virus variants with the single change to Asp or Glu in the VP2 residue 426 were detected (sometimes termed CPV-2b and -2c). The genetic and antigenic changes in the variants have also been correlated with changes in their host range; in particular, in the ability to replicate in cats and also host range differences in canine and other tissue culture cells. CPV-2 variants have been circulating among wild carnivores and have been well-documented in several countries around the world. Here, we have reviewed and summarized the current information about the worldwide distribution and evolution of CPV-2 variants since they emerged, as well as the host ranges they are associated with.

LOSS OF WATER IN PUBLIC BUILDINGS (ON THE EXAMPLE OF MGSU

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Orlov Evgeniy Vladimirovich

2016-09-01

Full Text Available Any public building is a consumer of water resources. A huge amount of clean drinking water is used for various needs especially in buildings where there are a large number of people, for example, institutions of higher education. It should be noted that today all buildings must meet requirements for water conservation. This is because a large amount of drinking water is wasted. The author considers the problems characteristic of public buildings, because of which losses of water in the inner water supply systems happen. The variants are offered how to reduce wasteful expenses by installing contactless water intake devices, wastewater intake as well as water-saving headers and waterless urinals. The use of polymer materials and copper pipelines during reconstruction of the system in order to reduce water losses is justified.

Delineation of concentration ranges and longitudinal changes of human plasma protein variants.

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Olgica Trenchevska

Full Text Available Human protein diversity arises as a result of alternative splicing, single nucleotide polymorphisms (SNPs and posttranslational modifications. Because of these processes, each protein can exists as multiple variants in vivo. Tailored strategies are needed to study these protein variants and understand their role in health and disease. In this work we utilized quantitative mass spectrometric immunoassays to determine the protein variants concentration of beta-2-microglobulin, cystatin C, retinol binding protein, and transthyretin, in a population of 500 healthy individuals. Additionally, we determined the longitudinal concentration changes for the protein variants from four individuals over a 6 month period. Along with the native forms of the four proteins, 13 posttranslationally modified variants and 7 SNP-derived variants were detected and their concentration determined. Correlations of the variants concentration with geographical origin, gender, and age of the individuals were also examined. This work represents an important step toward building a catalog of protein variants concentrations and examining their longitudinal changes.

Migraine Variants in Children

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... Headaches in Children FAQ Migraine Variants In Children Children Get Migraines Too! Learn More Migraine Information Find Help Doctors & Resources Get Connected Join the Conversation Follow Us on Social Media Company About News Resources Privacy Policy Contact Phone: ...

Listeners' processing of a given reduced word pronunciation variant directly reflects their exposure to this variant: Evidence from native listeners and learners of French.

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Brand, Sophie; Ernestus, Mirjam

2018-05-01

In casual conversations, words often lack segments. This study investigates whether listeners rely on their experience with reduced word pronunciation variants during the processing of single segment reduction. We tested three groups of listeners in a lexical decision experiment with French words produced either with or without word-medial schwa (e.g., /ʀvy/ and /ʀvy/ for revue). Participants also rated the relative frequencies of the two pronunciation variants of the words. If the recognition accuracy and reaction times (RTs) for a given listener group correlate best with the frequencies of occurrence holding for that given listener group, recognition is influenced by listeners' exposure to these variants. Native listeners' relative frequency ratings correlated well with their accuracy scores and RTs. Dutch advanced learners' accuracy scores and RTs were best predicted by their own ratings. In contrast, the accuracy and RTs from Dutch beginner learners of French could not be predicted by any relative frequency rating; the rating task was probably too difficult for them. The participant groups showed behaviour reflecting their difference in experience with the pronunciation variants. Our results strongly suggest that listeners store the frequencies of occurrence of pronunciation variants, and consequently the variants themselves.

The pathogenicity of genetic variants previously associated with left ventricular non-compaction

DEFF Research Database (Denmark)

Abbasi, Yeganeh; Jabbari, Javad; Jabbari, Reza

2016-01-01

BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide...... an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants. METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically...... searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine...

Network perturbation by recurrent regulatory variants in cancer.

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Kiwon Jang

2017-03-01

Full Text Available Cancer driving genes have been identified as recurrently affected by variants that alter protein-coding sequences. However, a majority of cancer variants arise in noncoding regions, and some of them are thought to play a critical role through transcriptional perturbation. Here we identified putative transcriptional driver genes based on combinatorial variant recurrence in cis-regulatory regions. The identified genes showed high connectivity in the cancer type-specific transcription regulatory network, with high outdegree and many downstream genes, highlighting their causative role during tumorigenesis. In the protein interactome, the identified transcriptional drivers were not as highly connected as coding driver genes but appeared to form a network module centered on the coding drivers. The coding and regulatory variants associated via these interactions between the coding and transcriptional drivers showed exclusive and complementary occurrence patterns across tumor samples. Transcriptional cancer drivers may act through an extensive perturbation of the regulatory network and by altering protein network modules through interactions with coding driver genes.

Variants at the 9p21 locus and melanoma risk

International Nuclear Information System (INIS)

Maccioni, Livia; Rachakonda, Panduranga Sivaramakrishna; Bermejo, Justo Lorenzo; Planelles, Dolores; Requena, Celia; Hemminki, Kari; Nagore, Eduardo; Kumar, Rajiv

2013-01-01

The influence of variants at the 9p21 locus on melanoma risk has been reported through investigation of CDKN2A variants through candidate gene approach as well as by genome wide association studies (GWAS). In the present study we genotyped, 25 SNPs that tag 273 variants on chromosome 9p21 in 837 melanoma cases and 1154 controls from Spain. Ten SNPs were selected based on previous associations, reported in GWAS, with either melanocytic nevi or melanoma risk or both. The other 15 SNPs were selected to fine map the CDKN2A gene region. All the 10 variants selected from the GWAS showed statistically significant association with melanoma risk. Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3’ UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). Interaction analysis between risk associated polymorphisms and previously genotyped MC1R variants, in the present study, did not show any statistically significant association. Statistical significant association was observed for the interaction between phototypes and the rs10811629 (located in intron 5 of MTAP). The strongest association was observed between the homozygous carrier of the A–allele and phototype II with an OR of 15.93 (95% CI 5.34-47.54). Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes

Discovery of a mammalian splice variant of myostatin that stimulates myogenesis.

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Ferenc Jeanplong

Full Text Available Myostatin plays a fundamental role in regulating the size of skeletal muscles. To date, only a single myostatin gene and no splice variants have been identified in mammals. Here we describe the splicing of a cryptic intron that removes the coding sequence for the receptor binding moiety of sheep myostatin. The deduced polypeptide sequence of the myostatin splice variant (MSV contains a 256 amino acid N-terminal domain, which is common to myostatin, and a unique C-terminus of 65 amino acids. Western immunoblotting demonstrated that MSV mRNA is translated into protein, which is present in skeletal muscles. To determine the biological role of MSV, we developed an MSV over-expressing C2C12 myoblast line and showed that it proliferated faster than that of the control line in association with an increased abundance of the CDK2/Cyclin E complex in the nucleus. Recombinant protein made for the novel C-terminus of MSV also stimulated myoblast proliferation and bound to myostatin with high affinity as determined by surface plasmon resonance assay. Therefore, we postulated that MSV functions as a binding protein and antagonist of myostatin. Consistent with our postulate, myostatin protein was co-immunoprecipitated from skeletal muscle extracts with an MSV-specific antibody. MSV over-expression in C2C12 myoblasts blocked myostatin-induced Smad2/3-dependent signaling, thereby confirming that MSV antagonizes the canonical myostatin pathway. Furthermore, MSV over-expression increased the abundance of MyoD, Myogenin and MRF4 proteins (P<0.05, which indicates that MSV stimulates myogenesis through the induction of myogenic regulatory factors. To help elucidate a possible role in vivo, we observed that MSV protein was more abundant during early post-natal muscle development, while myostatin remained unchanged, which suggests that MSV may promote the growth of skeletal muscles. We conclude that MSV represents a unique example of intra-genic regulation in which a

Spatial distributions of Pseudomonas fluorescens colony variants in mixed-culture biofilms.

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Workentine, Matthew L; Wang, Siyuan; Ceri, Howard; Turner, Raymond J

2013-07-28

The emergence of colony morphology variants in structured environments is being recognized as important to both niche specialization and stress tolerance. Pseudomonas fluorescens demonstrates diversity in both its natural environment, the rhizosphere, and in laboratory grown biofilms. Sub-populations of these variants within a biofilm have been suggested as important contributors to antimicrobial stress tolerance given their altered susceptibility to various agents. As such it is of interest to determine how these variants might be distributed in the biofilm environment. Here we present an analysis of the spatial distribution of Pseudomonas fluorescens colony morphology variants in mixed-culture biofilms with the wildtype phenotype. These findings reveal that two variant colony morphotypes demonstrate a significant growth advantage over the wildtype morphotype in the biofilm environment. The two variant morphotypes out-grew the wildtype across the entire biofilm and this occurred within 24 h and was maintained through to 96 h. This competitive advantage was not observed in homogeneous broth culture. The significant advantage that the variants demonstrate in biofilm colonization over the wildtype denotes the importance of this phenotype in structured environments.

Effects of Worked Examples, Example-Problem Pairs, and Problem-Example Pairs Compared to Problem Solving

NARCIS (Netherlands)

Van Gog, Tamara; Kester, Liesbeth; Paas, Fred

2010-01-01

Van Gog, T., Kester, L., & Paas, F. (2010, August). Effects of worked examples, example-problem pairs, and problem-example pairs compared to problem solving. Paper presented at the Biannual EARLI SIG meeting of Instructional design and Learning and instruction with computers, Ulm, Germany.

Genomic constitution of an H-2:Tla variant leukemia.

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Shen, F W; Chaganti, R S; Doucette, L A; Litman, G W; Steinmetz, M; Hood, L; Boyse, E A

1984-10-01

A TL+ leukemia of a (B6 X A)F1 hybrid mouse (H-2b/H-2a) was previously subjected to immunoselection against H-2a by passage in (B6 X A.SW)F1 mice (H-2b/H-2s). A variant leukemia line was obtained that serologically lacked not only the H-2a phenotype but also the TL phenotype determined by the linked cis Tlaa allele of strain A. The H-2b phenotype and the TL phenotype of the Tlab allele of the B6 strain, which is expressed only by leukemia cells, were retained by the variant. Southern blotting with an H-2 cDNA probe that identifies restriction fragment polymorphisms distinguishing alleles of the H-2 and Tla regions of the B6 and A strains indicates that both the H-2a and Tlaa alleles are missing from the genome of this H-2a:Tlaa negative variant. Since the variant has two apparently unaltered chromosomes 17, where the H-2:Tla complex is situated, and since the intensity of bands in Southern blotting is suggestive of H-2b homozygosity, it is considered that loss of the H-2a:Tlaa haplotype by the variant was accompanied by duplication of the H-2b:Tlab haplotype. The implied change from heterozygosity to homozygosity that the variant has undergone with respect to H-2:Tla was not paralleled by a similar change at the three other loci tested, since the variant retained heterozygosity for Pep-3 (chromosome 1), Gpi-1 (chromosome 7), and Es-1 (chromosome 8).

Efficient utilization of rare variants for detection of disease-related genomic regions.

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Lei Zhang

2010-12-01

Full Text Available When testing association between rare variants and diseases, an efficient analytical approach involves considering a set of variants in a genomic region as the unit of analysis. One factor complicating this approach is that the vast majority of rare variants in practical applications are believed to represent background neutral variation. As a result, analyzing a single set with all variants may not represent a powerful approach. Here, we propose two alternative strategies. In the first, we analyze the subsets of rare variants exhaustively. In the second, we categorize variants selectively into two subsets: one in which variants are overrepresented in cases, and the other in which variants are overrepresented in controls. When the proportion of neutral variants is moderate to large we show, by simulations, that the both proposed strategies improve the statistical power over methods analyzing a single set with total variants. When applied to a real sequencing association study, the proposed methods consistently produce smaller p-values than their competitors. When applied to another real sequencing dataset to study the difference of rare allele distributions between ethnic populations, the proposed methods detect the overrepresentation of variants between the CHB (Chinese Han in Beijing and YRI (Yoruba people of Ibadan populations with small p-values. Additional analyses suggest that there is no difference between the CHB and CHD (Chinese Han in Denver datasets, as expected. Finally, when applied to the CHB and JPT (Japanese people in Tokyo populations, existing methods fail to detect any difference, while it is detected by the proposed methods in several regions.

Changes in classification of genetic variants in BRCA1 and BRCA2.

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Kast, Karin; Wimberger, Pauline; Arnold, Norbert

2018-02-01

Classification of variants of unknown significance (VUS) in the breast cancer genes BRCA1 and BRCA2 changes with accumulating evidence for clinical relevance. In most cases down-staging towards neutral variants without clinical significance is possible. We searched the database of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for changes in classification of genetic variants as an update to our earlier publication on genetic variants in the Centre of Dresden. Changes between 2015 and 2017 were recorded. In the group of variants of unclassified significance (VUS, Class 3, uncertain), only changes of classification towards neutral genetic variants were noted. In BRCA1, 25% of the Class 3 variants (n = 2/8) changed to Class 2 (likely benign) and Class 1 (benign). In BRCA2, in 50% of the Class 3 variants (n = 16/32), a change to Class 2 (n = 10/16) or Class 1 (n = 6/16) was observed. No change in classification was noted in Class 4 (likely pathogenic) and Class 5 (pathogenic) genetic variants in both genes. No up-staging from Class 1, Class 2 or Class 3 to more clinical significance was observed. All variants with a change in classification in our cohort were down-staged towards no clinical significance by a panel of experts of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS.

Identifying genetic variants that affect viability in large cohorts.

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Hakhamanesh Mostafavi

2017-09-01

Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

Protein variants in Hiroshima and Nagasaki: tales of two cities.

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Neel, J V; Satoh, C; Smouse, P; Asakawa, J; Takahashi, N; Goriki, K; Fujita, M; Kageoka, T; Hazama, R

1988-12-01

The results of 1,465,423 allele product determinations based on blood samples from Hiroshima and Nagasaki, involving 30 different proteins representing 32 different gene products, are analyzed in a variety of ways, with the following conclusions: (1) Sibships and their parents are included in the sample. Our analysis reveals that statistical procedures designed to reduce the sample to equivalent independent genomes do not in population comparisons compensate for the familial cluster effect of rare variants. Accordingly, the data set was reduced to one representative of each sibship (937,427 allele products). (2) Both chi 2-type contrasts and a genetic distance measure (delta) reveal that rare variants (P less than .01) are collectively as effective as polymorphisms in establishing genetic differences between the two cities. (3) We suggest that rare variants that individually exhibit significant intercity differences are probably the legacy of tribal private polymorphisms that occurred during prehistoric times. (4) Despite the great differences in the known histories of the two cities, both the overall frequency of rare variants and the number of different rare variants are essentially identical in the two cities. (5) The well-known differences in locus variability are confirmed, now after adjustment for sample size differences for the various locus products; in this large series we failed to detect variants at only three of 29 loci for which sample size exceeded 23,000. (6) The number of alleles identified per locus correlates positively with subunit molecular weight. (7) Loci supporting genetic polymorphisms are characterized by more rare variants than are loci at which polymorphisms were not encountered. (8) Loci whose products do not appear to be essential for health support more variants than do loci the absence of whose product is detrimental to health. (9) There is a striking excess of rare variants over the expectation under the neutral mutation

Can a virtual supermarket bring realism into the lab? Comparing shopping behavior using virtual and pictorial store representations to behavior in a physical store.

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van Herpen, Erica; van den Broek, Eva; van Trijp, Hans C M; Yu, Tian

2016-12-01

Immersive virtual reality techniques present new opportunities for research into consumer behavior. The current study examines whether the increased realism of a virtual store compared to pictorial (2D) stimuli elicits consumer behavior that is more in line with behavior in a physical store. We examine the number, variety, and type of products selected, amount of money spent, and responses to price promotions and shelf display, in three product categories (fruit & vegetables, milk, and biscuits). We find that virtual reality elicits behavior that is more similar to behavior in the physical store compared to the picture condition for the number of products selected (Milk: M store  = 1.19, M virtual  = 1.53, M pictures  = 2.58) and amount of money spent (Milk: M store  = 1.27, M virtual  = 1.53, M pictures  = 2.60 Euro), and for the selection of products from different areas of the shelf, both vertically (purchases from top shelves, milk and biscuits: P store  = 21.6%, P virtual  = 33.4%, P pictures  = 50.0%) and horizontally (purchase from left shelf, biscuits: P store  = 35.5%, P virtual  = 53.3%, P pictures  = 66.7%). This indicates that virtual reality can improve realism in responses to shelf allocation. Virtual reality was not able to diminish other differences between lab and physical store: participants bought more products and spent more money (for biscuits and fruit & vegetables), bought more national brands, and responded more strongly to price promotions in both virtual reality and pictorial representations than in the physical store. Implications for the use of virtual reality in studies of consumer food choice behavior as well as for future improvement of virtual reality techniques are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Following of erosive wash of soil in variants with different intercrops

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Barbora Badalíková

2010-01-01

Full Text Available In a pilot experiment established in a sugar beet growing region the erosive washing away of soil was studied in the years 2006 to 2008. The area is located at an altitude of 246 m with the long-term mean precipitation of 500 mm and the mean annual temperature of 8.4 °C. The soils are classified as Chernozem, moderately heavy, loamy, with a good supply of nutrients, humus content of 2.30 % and an alkaline soil reaction. Slope gradient is 12 %, exposition is NE. To study the role of intercrops in erosion control, three variants were established after the harvest of the main crop, two variants with different intercrops and one (control with no intercrop. These were Variant 1 with Secale cereale L. var. multicaule METZG. ex ALEF., a non-freezing intercrop, Variant 2 with cluster mallow (Malva verticillata L., a freezing intercrop, and a control variant with no intercrop. In Variant 1 Secale cereale L. var. multicaule was desiccated with the herbicide Roundup in early spring. All the variants involved maize as the main crop. In variants 1 and 2, maize was sown in intercrop residues after seedbed preparation by Vario and a compactor. In Variant 3 maize was sown after conventional seedbed preparation. For assessment of soil conditions soil samples were taken to determine soil physical and chemical properties and water content in the soil. Soil loss by erosion was determined using specially-designed pockets. Erosive washing away of soil was monitored during the entire growing season of maize. The variants in which intercrops were used were found very effective in soil erosion control. In Variant 3 (control without surface crop residues, the washing away of soil was recorded with each heavy torrential rain. During the all years the total amount of soil loss by erosion in this treatment was 2.25 t . ha−1.

Hepatitis E Virus Variant in Farmed Mink, Denmark

DEFF Research Database (Denmark)

Krog, Jesper Schak; Breum, Solvej Østergaard; Jensen, Trine Hammer

2013-01-01

Hepatitis E virus (HEV) is a zoonotic virus for which pigs are the primary animal reservoir. To investigate whether HEV occurs in mink in Denmark, we screened feces and tissues from domestic and wild mink. Our finding of a novel HEV variant supports previous findings of HEV variants in a variety...

Efficient population-scale variant analysis and prioritization with VAPr.

Science.gov (United States)

Birmingham, Amanda; Mark, Adam M; Mazzaferro, Carlo; Xu, Guorong; Fisch, Kathleen M

2018-04-06

With the growing availability of population-scale whole-exome and whole-genome sequencing, demand for reproducible, scalable variant analysis has spread within genomic research communities. To address this need, we introduce the Python package VAPr (Variant Analysis and Prioritization). VAPr leverages existing annotation tools ANNOVAR and MyVariant.info with MongoDB-based flexible storage and filtering functionality. It offers biologists and bioinformatics generalists easy-to-use and scalable analysis and prioritization of genomic variants from large cohort studies. VAPr is developed in Python and is available for free use and extension under the MIT License. An install package is available on PyPi at https://pypi.python.org/pypi/VAPr, while source code and extensive documentation are on GitHub at https://github.com/ucsd-ccbb/VAPr. kfisch@ucsd.edu.

IL10 low-frequency variants in Behçet's disease patients.

Science.gov (United States)

Matos, Mafalda; Xavier, Joana M; Abrantes, Patrícia; Sousa, Inês; Rei, Nádia; Davatchi, Fereydoun; Shahram, Farhad; Jesus, Gorete; Barcelos, Filipe; Vedes, Joana; Salgado, Manuel; Abdollahi, Bahar Sadeghi; Nadji, Abdolhadi; Moraes-Fontes, Maria Francisca; Shafiee, Niloofar Mojarad; Ghaderibarmi, Fahmida; Vaz Patto, José; Crespo, Jorge; Oliveira, Sofia A

2017-05-01

To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility. To identify IL10 low-frequency variants, a discovery group of 50 Portuguese BD patients were Sanger-sequenced in a 7.7 kb genomic region encompassing the complete IL10 gene, 0.9 kb upstream and 2 kb downstream, and two conserved regions in the putative promoter. To assess if the novel variants are BD- and/or Portuguese-specific, they were assayed in an additional group of BD patients (26 Portuguese and 964 Iranian) and controls (104 Portuguese and 823 Iranian). Rare IL10 coding variants were not detected in BD patients, but we identified 28 known single nucleotide polymorphisms with minor allele frequencies ranging from 0.010 to 0.390, and five novel non-coding variants in five heterozygous cases. ss836185595, located in the IL10 3' untranslated region, was also detected in one Iranian control individual and therefore is not specific to BD. The remaining novel IL10 variants (ss836185596 and ss836185602 in intron 3, ss836185598 and ss836185604 in the putative promoter region) were not found in the replication dataset. This study highlights the importance of screening the whole gene and regulatory regions when searching for novel variants associated with complex diseases, and the need to develop bioinformatics tools to predict the functional impact of non-coding variants and statistical tests which incorporate these predictions. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Science.gov (United States)

Neupauerová, Jana; Štěrbová, Katalin; Vlčková, Markéta; Sebroňová, Věra; Maříková, Tat'ána; Krůtová, Marcela; David, Staněk; Kršek, Pavel; Žaliová, Markéta; Seeman, Pavel; Laššuthová, Petra

2017-10-01

Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed. Sanger sequencing was used to confirm the novel variants. For confirmation of the functional consequence of an intronic CDKL5 variant in patient 2, an RNA study was done. DNA sequencing revealed de novo variants in CDKL5, a c.2578C>T (p. Gln860*) present in a hemizygous state in a 3-year-old boy, and a potential splice site variant c.463+5G>A in heterozygous state in a 5-year-old girl. Multiple in silico splicing algorithms predicted a highly reduced splice site score for c.463+5G>A. A subsequent mRNA study confirmed an aberrant shorter transcript lacking exon 7. Our data confirmed that variants in the CDKL5 are associated with EIEE2. There is credible evidence that the novel identified variants are pathogenic and, therefore, are likely the cause of the disease in the presented patients. In one of the patients a stop codon variant is predicted to produce a truncated protein, and in the other patient an intronic variant results in aberrant splicing.

Common genetic variants influence human subcortical brain structures

Science.gov (United States)

Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

2015-01-01

The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

Common genetic variants influence human subcortical brain structures.

Science.gov (United States)

Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; Schmaal, Lianne; Schork, Andrew J; Shin, Jean; Strike, Lachlan T; Teumer, Alexander; van Donkelaar, Marjolein M J; van Eijk, Kristel R; Walters, Raymond K; Westlye, Lars T; Whelan, Christopher D; Winkler, Anderson M; Zwiers, Marcel P; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M H; Hartberg, Cecilie B; Haukvik, Unn K; Heister, Angelien J G A M; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C M; Lopez, Lorna M; Makkinje, Remco R R; Matarin, Mar; Naber, Marlies A M; McKay, D Reese; Needham, Margaret; Nugent, Allison C; Pütz, Benno; Royle, Natalie A; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S L; van Hulzen, Kimm J E; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A; Bastin, Mark E; Brodaty, Henry; Bulayeva, Kazima B; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E; Czisch, Michael; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

2015-04-09

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Science.gov (United States)

Derikx, Monique H M; Geisz, Andrea; Kereszturi, Éva; Sahin-Tóth, Miklós

2015-05-01

Chronic pancreatitis is a progressive inflammatory disorder of the pancreas, which often develops as a result of genetic predisposition. Some of the most frequently identified risk factors affect the serine protease inhibitor Kazal type 1 (SPINK1) gene, which encodes a trypsin inhibitor responsible for protecting the pancreas from premature trypsinogen activation. Recent genetic and functional studies indicated that promoter variants in the SPINK1 gene might contribute to disease risk in carriers. Here, we investigated the functional effects of 17 SPINK1 promoter variants using luciferase reporter gene expression assay in four different cell lines, including three pancreatic acinar cell lines (rat AR42J with or without dexamethasone-induced differentiation and mouse 266-6) and human embryonic kidney 293T cells. We found that most variants caused relatively small changes in promoter activity. Surprisingly, however, we observed significant variations in the effects of the promoter variants in the different cell lines. Only four variants exhibited consistently reduced promoter activity in all acinar cell lines, confirming previous reports that variants c.-108G>T, c.-142T>C, and c.-147A>G are risk factors for chronic pancreatitis and identifying c.-52G>T as a novel risk variant. In contrast, variant c.-215G>A, which is linked with the disease-associated splice-site mutation c.194 + 2T>C, caused increased promoter activity, which may mitigate the overall effect of the pathogenic haplotype. Our study lends further support to the notion that sequence evaluation of the SPINK1 promoter region in patients with chronic pancreatitis is justified as part of the etiological investigation. Copyright © 2015 the American Physiological Society.

Differences in the Load-Velocity Profile Between 4 Bench-Press Variants.

Science.gov (United States)

García-Ramos, Amador; Pestaña-Melero, Francisco Luis; Pérez-Castilla, Alejandro; Rojas, Francisco Javier; Haff, Guy Gregory

2018-03-01

To compare the load-velocity relationship between 4 variants of the bench-press (BP) exercise. The full load-velocity relationship of 30 men was evaluated by means of an incremental loading test starting at 17 kg and progressing to the individual 1-repetition maximum (1RM) in 4 BP variants: concentric-only BP, concentric-only BP throw (BPT), eccentric-concentric BP, and eccentric-concentric BPT. A strong and fairly linear relationship between mean velocity (MV) and %1RM was observed for the 4 BP variants (r 2  > .96 for pooled data and r 2  > .98 for individual data). The MV associated with each %1RM was significantly higher in the eccentric-concentric technique than in the concentric-only technique. The only significant difference between the BP and BPT variants was the higher MV with the light to moderate loads (20-70%1RM) in the BPT using the concentric-only technique. MV was significantly and positively correlated between the 4 BP variants (r = .44-.76), which suggests that the subjects with higher velocities for each %1RM in 1 BP variant also tend to have higher velocities for each %1RM in the 3 other BP variants. These results highlight the need for obtaining specific equations for each BP variant and the existence of individual load-velocity profiles.

Neuronal correlate of pictorial short-term memory in the primate temporal cortexYasushi Miyashita

Science.gov (United States)

Miyashita, Yasushi; Chang, Han Soo

1988-01-01

It has been proposed that visual-memory traces are located in the temporal lobes of the cerebral cortex, as electric stimulation of this area in humans results in recall of imagery1. Lesions in this area also affect recognition of an object after a delay in both humans2,3 and monkeys4-7 indicating a role in short-term memory of images8. Single-unit recordings from the temporal cortex have shown that some neurons continue to fire when one of two or four colours are to be remembered temporarily9. But neuronal responses selective to specific complex objects10-18 , including hands10,13 and faces13,16,17, cease soon after the offset of stimulus presentation10-18. These results led to the question of whether any of these neurons could serve the memory of complex objects. We report here a group of shape-selective neurons in an anterior ventral part of the temporal cortex of monkeys that exhibited sustained activity during the delay period of a visual short-term memory task. The activity was highly selective for the pictorial information to be memorized and was independent of the physical attributes such as size, orientation, colour or position of the object. These observations show that the delay activity represents the short-term memory of the categorized percept of a picture.

Observation of the Central Part of the Beta-Pictoris Disk with an Anti-Blooming CCD

Science.gov (United States)

Lecavelier Des Etangs, A.; Perrin, G.; Ferlet, R.; Vidal Madjar, A.; Colas, F.; Buil, C.; Sevre, F.; Arlot, J. E.; Beust, H.; Lagrange Henri, A. M.; Lecacheux, J.; Deleuil, M.; Gry, C.

1993-07-01

β Pictoris (A5V) possesses a circumstellar disk of gas and dust which is oriented edge-on to Earth. Possibly a planet may be indirectly responsible for spectroscopic events, presently interpreted as the signature of the vaporisation of comet-like bodies when grazing the star, and may have cleared up dust particles in the inner zone. Previous coronographic studies coupled with IRAS and ground based IR observations also seem to indicate that the inner regions of the disk may be possibly dust free. We have extended the coronographic studies closer to the star in order to directly observe this zone, through a different observational technique based on the use of an anti- blooming CCD. These new observations, recorded at La Silla (Chile), revealed the structure of the disk down to two arcsec from the star (30 AU from the star). A different nature of dust particles seems to be present in the inner regions of the disk, in possible relation with a planetary formation process. Also an inverted asymmetry is observed in the inner region of the disk when compared to the outer one, a structure possibly related to a non homogeneous distribution of the dust within the disk.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Science.gov (United States)

Karbassi, Izabela; Maston, Glenn A; Love, Angela; DiVincenzo, Christina; Braastad, Corey D; Elzinga, Christopher D; Bright, Alison R; Previte, Domenic; Zhang, Ke; Rowland, Charles M; McCarthy, Michele; Lapierre, Jennifer L; Dubois, Felicita; Medeiros, Katelyn A; Batish, Sat Dev; Jones, Jeffrey; Liaquat, Khalida; Hoffman, Carol A; Jaremko, Malgorzata; Wang, Zhenyuan; Sun, Weimin; Buller-Burckle, Arlene; Strom, Charles M; Keiles, Steven B; Higgins, Joseph J

2016-01-01

We developed a rules-based scoring system to classify DNA variants into five categories including pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign. Over 16,500 pathogenicity assessments on 11,894 variants from 338 genes were analyzed for pathogenicity based on prediction tools, population frequency, co-occurrence, segregation, and functional studies collected from internal and external sources. Scores were calculated by trained scientists using a quantitative framework that assigned differential weighting to these five types of data. We performed descriptive and comparative statistics on the dataset and tested interobserver concordance among the trained scientists. Private variants defined as variants found within single families (n = 5,182), were either VUS (80.5%; n = 4,169) or likely pathogenic (19.5%; n = 1,013). The remaining variants (n = 6,712) were VUS (38.4%; n = 2,577) or likely benign/benign (34.7%; n = 2,327) or likely pathogenic/pathogenic (26.9%, n = 1,808). Exact agreement between the trained scientists on the final variant score was 98.5% [95% confidence interval (CI) (98.0, 98.9)] with an interobserver consistency of 97% [95% CI (91.5, 99.4)]. Variant scores were stable and showed increasing odds of being in agreement with new data when re-evaluated periodically. This carefully curated, standardized variant pathogenicity scoring system provides reliable pathogenicity scores for DNA variants encountered in a clinical laboratory setting. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

Knowledge Engineering (Or, Catching Black Cats in Dark Rooms).

Science.gov (United States)

Ruyle, Kim E.

1993-01-01

Discusses knowledge engineering, its relationship to artificial intelligence, and possible applications to developing expert systems, job aids, and technical training. The educational background of knowledge engineers is considered; the role of subject matter experts is described; and examples of flow charts, lists, and pictorial representations…

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

Science.gov (United States)

Schrader, Kasmintan A; Cheng, Donavan T; Joseph, Vijai; Prasad, Meera; Walsh, Michael; Zehir, Ahmet; Ni, Ai; Thomas, Tinu; Benayed, Ryma; Ashraf, Asad; Lincoln, Annie; Arcila, Maria; Stadler, Zsofia; Solit, David; Hyman, David M; Hyman, David; Zhang, Liying; Klimstra, David; Ladanyi, Marc; Offit, Kenneth; Berger, Michael; Robson, Mark

2016-01-01

Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well. To estimate the burden of germline variants identified through routine clinical tumor sequencing. Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. We surveyed the germline variants seen in 187 overlapping genes with Mendelian disease associations in 1566 patients who had undergone tumor profiling between March and October 2014. The number of presumed pathogenic germline variants (PPGVs) and variants of uncertain significance per person in 187 genes associated with single-gene disorders and the proportions of individuals with PPGVs in clinically relevant gene subsets, in genes consistent with known tumor phenotypes, and in genes with evidence of second somatic hits in their tumors. The mean age of the 1566 patients was 58 years, and 54% were women. Presumed pathogenic germline variants in known Mendelian disease-associated genes were identified in 246 of 1566 patients (15.7%; 95% CI, 14.0%-17.6%), including 198 individuals with mutations in genes associated with cancer susceptibility. Germline findings in cancer susceptibility genes were concordant with the individual's cancer type in only 81 of 198 cases (40.9%; 95% CI, 34.3%-47.9%). In individuals with PPGVs retained in the tumor, somatic alteration of the other allele was seen in 39 of 182 cases (21.4%; 95% CI, 16.1%-28.0%), of which 13 cases did not show a known correlation of the germline mutation and a known syndrome. Mutations in non-cancer-related Mendelian disease genes were seen in 55 of 1566 cases (3.5%; 95% CI, 27.1%-45.4%). Almost every individual had more than 1 variant of uncertain significance (1565 of 1566 patients; 99

A PICTORIAL PRESENTATION OF ESOPHAGEAL HIGH RESOLUTION MANOMETRY CURRENT PARAMETERS.

Science.gov (United States)

Lafraia, Fernanda M; Herbella, Fernando A M; Kalluf, Julia R; Patti, Marco G

2017-01-01

High resolution manometry is the current technology used to the study of esophageal motility and is replacing conventional manometry in important centers for esophageal motility with parameters used on esophageal motility, following the Chicago Classification. This classification unifies high resolution manometry interpretation and classifies esophageal disorders. This review shows, in a pictorial presentation, the new parameters established by the Chicago Classification, version 3.0, aimed to allow an easy comprehension and interpretation of high resolution manometry. Esophageal manometries performed by the authors were reviewed to select illustrative tracings representing Chicago Classification parameters. The parameters are: Esophagogastric Morphology, that classifies this junction according to its physiology and anatomy; Integrated Relaxation Pressure, that measures the lower esophageal sphincter relaxation; Distal Contractile Integral, that evaluates the contraction vigor of each wave; and, Distal Latency, that measures the peristalsis velocity from the beginning of the swallow to the epiphrenic ampulla. Clinical applications of these new concepts is still under evaluation. Mostrar, de forma pictórica, os novos parâmetros compilados na versão 3.0 da Classificação de Chicago, buscando facilitar a compreensão e interpretação da manometria de alta resolução. Foram revistas as manometrias da casuística dos autores e selecionados os traçados representativos dos parâmetros da Classificação de Chicago. Entre os parâmetros apresentados foram considerados a Morfologia da Transição Gastroesofágica, que classifica o segmento de acordo com sua fisiologia e anatomia; a Integral da Pressão de Relaxamento, que mede o relaxamento do esfíncter esofagiano inferior; a Integral Contrátil Distal, que avalia o vigor contrátil da onda peristáltica; e, a Latência Distal, que mede o tempo da peristalse, desde o início da deglutição até a ampola epifr

Extension twin variant selection during uniaxial compression of a magnesium alloy

DEFF Research Database (Denmark)

Pei, Y.; Godfrey, A.; Jiang, J.

2012-01-01

is also observed in that smaller grains are less likely to contain lower ranked twin variants. For both 5% and 10% compression no clear relationship exists between the volume fraction of each twin variant in a given grain population and the Schmid factor for the twin variant. A positive linear......Samples of the magnesium alloy AZ31 have been deformed by compression to strains of 5% and 10% and microstructural observations made to investigate the activation of specific {1 0 1¯ 2} extension twin variants. The twinning has been analyzed on a grain-by-grain basis for more than 260 grains...... to determine both the number of extension twin variants in each grain, and the volume fraction of each. At 5% strain approx. 30% of the grains contain twins corresponding to variants with the third or lower ranked Schmid factor, with the fraction increasing to 40% after 10% compression. A grain size effect...

DeepPVP: phenotype-based prioritization of causative variants using deep learning

KAUST Repository

Boudellioua, Imene

2018-05-02

Background: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity prediction is combined with a semantic similarity measure to prioritize not only variants that are likely to be dysfunctional but those that are likely involved in the pathogenesis of a patient\\'s phenotype. Results: We have developed DeepPVP, a variant prioritization method that combined automated inference with deep neural networks to identify the likely causative variants in whole exome or whole genome sequence data. We demonstrate that DeepPVP performs significantly better than existing methods, including phenotype-based methods that use similar features. DeepPVP is freely available at https://github.com/bio-ontology-research-group/phenomenet-vp Conclusions: DeepPVP further improves on existing variant prioritization methods both in terms of speed as well as accuracy.

A geometric framework for evaluating rare variant tests of association.

Science.gov (United States)

Liu, Keli; Fast, Shannon; Zawistowski, Matthew; Tintle, Nathan L

2013-05-01

The wave of next-generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous statistical methods have been proposed to aggregate association signals across multiple rare variant sites in an effort to increase statistical power; however, the precise relation between the tests is often not well understood. We present a geometric representation for rare variant data in which rare allele counts in case and control samples are treated as vectors in Euclidean space. The geometric framework facilitates a rigorous classification of existing rare variant tests into two broad categories: tests for a difference in the lengths of the case and control vectors, and joint tests for a difference in either the lengths or angles of the two vectors. We demonstrate that genetic architecture of a trait, including the number and frequency of risk alleles, directly relates to the behavior of the length and joint tests. Hence, the geometric framework allows prediction of which tests will perform best under different disease models. Furthermore, the structure of the geometric framework immediately suggests additional classes and types of rare variant tests. We consider two general classes of tests which show robustness to noncausal and protective variants. The geometric framework introduces a novel and unique method to assess current rare variant methodology and provides guidelines for both applied and theoretical researchers. © 2013 Wiley Periodicals, Inc.

CEACAM6 gene variants in inflammatory bowel disease.

Science.gov (United States)

Glas, Jürgen; Seiderer, Julia; Fries, Christoph; Tillack, Cornelia; Pfennig, Simone; Weidinger, Maria; Beigel, Florian; Olszak, Torsten; Lass, Ulrich; Göke, Burkhard; Ochsenkühn, Thomas; Wolf, Christiane; Lohse, Peter; Müller-Myhsok, Bertram; Diegelmann, Julia; Czamara, Darina; Brand, Stephan

2011-04-29

The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) acts as a receptor for adherent-invasive E. coli (AIEC) and its ileal expression is increased in patients with Crohn's disease (CD). Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD). In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC), and 1,350 healthy, unrelated controls) was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839). In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

CEACAM6 gene variants in inflammatory bowel disease.

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Jürgen Glas

Full Text Available BACKGROUND: The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6 acts as a receptor for adherent-invasive E. coli (AIEC and its ileal expression is increased in patients with Crohn's disease (CD. Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD. METHODOLOGY: In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC, and 1,350 healthy, unrelated controls was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839. In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. CONCLUSIONS: This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

Características morfoanatômicas da epiderme foliar de plantas variantes e não variantes somaclonais de bananeiras (Musa sp. Colla cv. Prata-anã cultivadas in vitro Morphoanatomical characteristics of the leaf epidermis of variant plants and somaclonal non-variants of banana trees (Musa sp. Colla cv. Prata-anã cultivated in vitro

Directory of Open Access Journals (Sweden)

Guilherme Araújo Lacerda

2008-03-01

Full Text Available A variação somaclonal corresponde ao aparecimento de plantas anormais durante o processo de multiplicação in vitro, principalmente relacionada à estatura, no caso o gigantismo. O objetivo deste trabalho foi averiguar as diferenças morfoanatômicas da epiderme foliar na tentativa de diferenciar as plantas de 'Prata-anã' em relação aos seus variantes somaclonais. A análise por microscopia eletrônica de varredura mostrou uma diferença significativa entre o diâmetro polar dos estômatos da 'Prata-anã' não variante e suas variantes, ambas em condições in vitro, observando-se que o mesmo não ocorre para as plantas in vivo. O número médio de estômatos é menor nas plantas variantes somaclonais, porém sem diferenças significativas a não ser para a planta PIII. A descamação de cera é evidente somente nas plantas variantes de ambos os materiais (in vitro e in vivo. Conclui-se que os caracteres morfoanatômicos da epiderme foliar, como densidade estomática, diâmetro estomático polar e a uniformidade da cera atuam como marcadores morfológicos para caracterizar as plantas micropropagadas de 'Prata-anã' em relação aos seus variantes somaclonais para a característica gigantismo.Somaclonal variation corresponds to the emergence of abnormal plants during the process of multiplication in vitro, mainly related to stature, in the case the gigantism. The aim of this work was to discover morphoanatomical differences of the leaf epidermis in an attempt to differentiate plants of "Prata-anã" from their somaclonal variants. Analysis by scanning electronic microscopy showed significant difference between the polar diameter of the stomata of the "Prata-anã" non-variant and its variants, both in vitro. The same does not happen for plants in vivo. The average number of stomata is lower in the somaclonal variant plants, but without significant differences except for plant PIII. Wax peeling is only evident in the variant plants of both the

Impact of Pathogen Population Heterogeneity and Stress-Resistant Variants on Food Safety.

Science.gov (United States)

Abee, T; Koomen, J; Metselaar, K I; Zwietering, M H; den Besten, H M W

2016-01-01

This review elucidates the state-of-the-art knowledge about pathogen population heterogeneity and describes the genotypic and phenotypic analyses of persister subpopulations and stress-resistant variants. The molecular mechanisms underlying the generation of persister phenotypes and genetic variants are identified. Zooming in on Listeria monocytogenes, a comparative whole-genome sequence analysis of wild types and variants that enabled the identification of mutations in variants obtained after a single exposure to lethal food-relevant stresses is described. Genotypic and phenotypic features are compared to those for persistent strains isolated from food processing environments. Inactivation kinetics, models used for fitting, and the concept of kinetic modeling-based schemes for detection of variants are presented. Furthermore, robustness and fitness parameters of L. monocytogenes wild type and variants are used to model their performance in food chains. Finally, the impact of stress-resistant variants and persistence in food processing environments on food safety is discussed.

Evaluating PRISM (Pictorial Representation of Illness and Self Measure) as a measure of life quality for children with skin diseases

DEFF Research Database (Denmark)

Melbardis Jørgensen, K.; Jemec, G.B.E.

2011-01-01

of age-dependant cognitive development on children's self-reported QoL. Methods and materials: A total of 43 children of both sexes aged 5-16, with a diagnosed dermatologic disease were asked to complete both PRISM and CDLQI. Children with a mental handicap, children who did not speak Danish or who were......Background: Changes in Quality of Life (QoL) are increasingly being used as an outcome measure in dermatology. For pediatric dermatology this poses special problems due to the natural cognitive development of the patients. QoL is mostly assessed using questionnaires. The use of a non......-verbal instrument may therefore be of particular relevance to pediatric patients. Purpose: To evaluate PRISM (Pictorial Representation of Illness and Self Measure) as a non-verbal measure of QoL for children with skin diseases compared to CDLQI (Children's Dermatology Life Quality Index) and the possible influence...

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

NARCIS (Netherlands)

Shimelis, Hermela; Mesman, Romy L. S.; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calléja, Fabienne M. G. R.; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; Lilyquist, Jenna; Hu, Chunling; Aalfs, Cora M.; Aittomäki, Kristiina; Andrulis, Irene; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Benitez, Javier; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Brouwers, Barbara; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Cheng, Ching-Yu; Choi, Ji-Yeob; Collée, J. Margriet; Cox, Angela; Cross, Simon S.; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham G.; Glendon, Gord; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hogervorst, Frans B.; Hollestelle, Antoinette; Hopper, John L.; Ito, Hidemi; Jakubowska, Anna; Kang, Daehee; Kosma, Veli-Matti; Kristensen, Vessela; Lai, Kah-Nyin; Lambrechts, Diether; Marchand, Loic Le; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Machackova, Eva; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; Miao, Hui; Michailidou, Kyriaki; Milne, Roger L.; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Olswold, Curtis; Oosterwijk, Jan J. C.; Osorio, Ana; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D. P.; Pylkäs, Katri; Radice, Paolo; Rashid, Muhammad Usman; Rhenius, Valerie; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schoemaker, Minouk J.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shrubsole, Martha; Shu, Xiao-Ou; Slager, Susan; Southey, Melissa C.; Stram, Daniel O.; Swerdlow, Anthony; teo, Soo H.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J.; van der Kolk, Lizet E.; Wang, Qin; Winqvist, Robert; Wu, Anna H.; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Leary, Jennifer; Walker, Logan; Foretova, Lenka; Fostira, Florentia; Claes, Kathleen B. M.; Varesco, Liliana; Moghadasi, Setareh; Easton, Douglas F.; Spurdle, Amanda; Devilee, Peter; Vrieling, Harry; Monteiro, Alvaro N. A.; Goldgar, David E.; Carreira, Aura; Vreeswijk, Maaike P. G.; Couch, Fergus J.

2017-01-01

Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk

Predicting effects of noncoding variants with deep learning-based sequence model.

Science.gov (United States)

Zhou, Jian; Troyanskaya, Olga G

2015-10-01

Identifying functional effects of noncoding variants is a major challenge in human genetics. To predict the noncoding-variant effects de novo from sequence, we developed a deep learning-based algorithmic framework, DeepSEA (http://deepsea.princeton.edu/), that directly learns a regulatory sequence code from large-scale chromatin-profiling data, enabling prediction of chromatin effects of sequence alterations with single-nucleotide sensitivity. We further used this capability to improve prioritization of functional variants including expression quantitative trait loci (eQTLs) and disease-associated variants.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

Science.gov (United States)

Jesús, Silvia; Huertas, Ismael; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

2016-01-01

The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

Directory of Open Access Journals (Sweden)

Silvia Jesús

Full Text Available The presence of mutations in glucocerebrosidase (GBA gene is a known factor increasing the risk of developing Parkinson's disease (PD. Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021, earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013, as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

VPA: an R tool for analyzing sequencing variants with user-specified frequency pattern

Directory of Open Access Journals (Sweden)

Hu Qiang

2012-01-01

Full Text Available Abstract Background The massive amounts of genetic variant generated by the next generation sequencing systems demand the development of effective computational tools for variant prioritization. Findings VPA (Variant Pattern Analyzer is an R tool for prioritizing variants with specified frequency pattern from multiple study subjects in next-generation sequencing study. The tool starts from individual files of variant and sequence calls and extract variants with user-specified frequency pattern across the study subjects of interest. Several position level quality criteria can be incorporated into the variant extraction. It can be used in studies with matched pair design as well as studies with multiple groups of subjects. Conclusions VPA can be used as an automatic pipeline to prioritize variants for further functional exploration and hypothesis generation. The package is implemented in the R language and is freely available from http://vpa.r-forge.r-project.org.

Ossification variants of the femoral condyles are not associated with osteochondritis dissecans

Energy Technology Data Exchange (ETDEWEB)

Jans, L., E-mail: lennartjans@hotmail.com [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Jaremko, J., E-mail: jjaremko@gmail.com [Department of Radiology, University of Alberta Hospital, 8440-112 Street, Edmonton T6G 2B7, Alberta (Canada); Ditchfield, M., E-mail: Michael.ditchfield@southernhealth.org.au [Department of Radiology, Monash University Clayton Campus, Wellington Road, Clayton 3800, VIC (Australia); De Coninck, T., E-mail: Tinekedeconinck@ugent.be [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Huysse, W., E-mail: Wouter.huysse@ugent.be [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Moon, A., E-mail: Anna.moon@rch.org.au [Department of Radiology, Royal Children' s Hospital, Flemington Road, Parkville 3052, VIC (Australia); Verstraete, K., E-mail: Koenraad.verstraete@ugent.be [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium)

2012-11-15

Purpose: To determine if ossification variants of the femoral condyles involving the subchondral bone plate are associated with osteochondritis dissecans (OCD). Materials and methods: The prevalence of ossification variants of the unaffected femoral condyle in 116 patients (aged 9-14 years) with unicondylar OCD on MRI (magnetic resonance imaging) of the knee was compared to a control group of 579 patients (aged 9-14 years) without OCD. The evolution of the ossification variants in both groups was studied by reviewing follow-up MR imaging side by side with the baseline study. Results: The prevalence of ossification variants in the unaffected condyle in patients with OCD (12.9%) and in the control group of patients without OCD (12.6%) was similar (p = 0.88). Evolution of ossification variants to OCD was not seen on follow-up MRI examinations. All variants had decreased in size or were no longer visible. Conclusion: Ossification variants of the femoral condyle that involve the subchondral bone plate are not associated with OCD. Clinical relevance statement: Ossification variants are not associated with OCD, indicating that routine MRI follow-up in affected children is not mandatory.

Ossification variants of the femoral condyles are not associated with osteochondritis dissecans

International Nuclear Information System (INIS)

Jans, L.; Jaremko, J.; Ditchfield, M.; De Coninck, T.; Huysse, W.; Moon, A.; Verstraete, K.

2012-01-01

Purpose: To determine if ossification variants of the femoral condyles involving the subchondral bone plate are associated with osteochondritis dissecans (OCD). Materials and methods: The prevalence of ossification variants of the unaffected femoral condyle in 116 patients (aged 9–14 years) with unicondylar OCD on MRI (magnetic resonance imaging) of the knee was compared to a control group of 579 patients (aged 9–14 years) without OCD. The evolution of the ossification variants in both groups was studied by reviewing follow-up MR imaging side by side with the baseline study. Results: The prevalence of ossification variants in the unaffected condyle in patients with OCD (12.9%) and in the control group of patients without OCD (12.6%) was similar (p = 0.88). Evolution of ossification variants to OCD was not seen on follow-up MRI examinations. All variants had decreased in size or were no longer visible. Conclusion: Ossification variants of the femoral condyle that involve the subchondral bone plate are not associated with OCD. Clinical relevance statement: Ossification variants are not associated with OCD, indicating that routine MRI follow-up in affected children is not mandatory.

RAGE splicing variants in mammals.

Science.gov (United States)

Sterenczak, Katharina Anna; Nolte, Ingo; Murua Escobar, Hugo

2013-01-01

The receptor for advanced glycation end products (RAGE) is a multiligand receptor of environmental stressors which plays key roles in pathophysiological processes, including immune/inflammatory disorders, Alzheimer's disease, diabetic arteriosclerosis, tumorigenesis, and metastasis. Besides the full-length RAGE protein in humans nearly 20 natural occurring RAGE splicing variants were described on mRNA and protein level. These naturally occurring isoforms are characterized by either N-terminally or C-terminally truncations and are discussed as possible regulators of the full-length RAGE receptor either by competitive ligand binding or by displacing the full-length protein in the membrane. Accordingly, expression deregulations of the naturally occurring isoforms were supposed to have significant effect on RAGE-mediated disorders. Thereby the soluble C-truncated RAGE isoforms present in plasma and tissues are the mostly focused isoforms in research and clinics. Deregulations of the circulating levels of soluble RAGE forms were reported in several RAGE-associated pathological disorders including for example atherosclerosis, diabetes, renal failure, Alzheimer's disease, and several cancer types. Regarding other mammalian species, the canine RAGE gene showed high similarities to the corresponding human structures indicating RAGE to be evolutionary highly conserved between both species. Similar to humans the canine RAGE showed a complex and extensive splicing activity leading to a manifold pattern of RAGE isoforms. Due to the similarities seen in several canine and human diseases-including cancer-comparative structural and functional analyses allow the development of RAGE and ligand-specific therapeutic approaches beneficial for human and veterinary medicine.

Family studies to find rare high risk variants in migraine.

Science.gov (United States)

Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

2017-12-01

Migraine has long been known as a common complex disease caused by genetic and environmental factors. The pathophysiology and the specific genetic susceptibility are poorly understood. Common variants only explain a small part of the heritability of migraine. It is thought that rare genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families. A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising application of a family approach to migraine. PubMed was searched to find studies that looked for rare genetic variants in common complex diseases through a family-based design using NGS, excluding studies looking for de-novo mutations, or using a candidate-gene approach and studies on cancer. All issues from Nature Genetics and PLOS genetics 2014, 2015 and 2016 (UTAI June) were screened for relevant papers. Reference lists from included and other relevant papers were also searched. For the description of the family-based study design using NGS an in-house protocol was used. Thirty-two successful studies, which covered 16 different common complex diseases, were included in this paper. We also found a single migraine study. Twenty-three studies found one or a few family specific

Example book

International Nuclear Information System (INIS)

Donnat, Ph.; Treimany, C.; Gouedard, C.; Morice, O.

1998-06-01

This document presents some examples which were used for debugging the code. It seemed useful to write these examples onto a book to be sure the code would not regret; to give warranties for the code's functionality; to propose some examples to illustrate the possibilities and the limits of Miro. (author)

Normal variants of skin in neonates

Directory of Open Access Journals (Sweden)

Kulkarni M

1996-01-01

Full Text Available 2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%, Epstein pearls (43.8%, Milia (26.2% and Erythema toxicum (25.2%, were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity are important factors in their causation as ordered in our study.

Cocirculation of Two env Molecular Variants, of Possible Recombinant Origin, in Gorilla and Chimpanzee Simian Foamy Virus Strains from Central Africa.

Science.gov (United States)

Richard, Léa; Rua, Réjane; Betsem, Edouard; Mouinga-Ondémé, Augustin; Kazanji, Mirdad; Leroy, Eric; Njouom, Richard; Buseyne, Florence; Afonso, Philippe V; Gessain, Antoine

2015-12-01

Simian foamy virus (SFV) is a ubiquitous retrovirus in nonhuman primates (NHPs) that can be transmitted to humans, mostly through severe bites. In the past few years, our laboratory has identified more than 50 hunters from central Africa infected with zoonotic SFVs. Analysis of the complete sequences of five SFVs obtained from these individuals revealed that env was the most variable gene. Furthermore, recombinant SFV strains, some of which involve sequences in the env gene, were recently identified. Here, we investigated the variability of the env genes of zoonotic SFV strains and searched for possible recombinants. We sequenced the complete env gene or its surface glycoprotein region (SU) from DNA amplified from the blood of (i) a series of 40 individuals from Cameroon or Gabon infected with a gorilla or chimpanzee foamy virus (FV) strain and (ii) 1 gorilla and 3 infected chimpanzees living in the same areas as these hunters. Phylogenetic analyses revealed the existence of two env variants among both the gorilla and chimpanzee FV strains that were present in zoonotic and NHP strains. These variants differ greatly (>30% variability) in a 753-bp-long region located in the receptor-binding domain of SU, whereas the rest of the gene is very conserved. Although the organizations of the Env protein sequences are similar, the potential glycosylation patterns differ between variants. Analysis of recombination suggests that the variants emerged through recombination between different strains, although all parental strains could not be identified. SFV infection in humans is a great example of a zoonotic retroviral infection that has not spread among human populations, in contrast to human immunodeficiency viruses (HIVs) and human T-lymphotropic viruses (HTLVs). Recombination was a major mechanism leading to the emergence of HIV. Here, we show that two SFV molecular envelope gene variants circulate among ape populations in Central Africa and that both can be transmitted to

Variant Plasmodium ovale isolated from a patient infected in Ghana

Directory of Open Access Journals (Sweden)

Petersen Eskild

2011-01-01

Full Text Available Abstract Recent data have found that Plasmodium ovale can be separated in two distinct species: classic and variant P. ovale based on multilocus typing of different genes. This study presents a P. ovale isolate from a patient infected in Ghana together with an analysis of the small subunit RNA, cytochrome b, cytochrome c oxidase I, cysteine protease and lactate dehydrogenase genes, which show that the sample is a variant P. ovale and identical or highly similar to variant P. ovale isolated from humans in South-East Asia and Africa, and from a chimpanzee in Cameroon. The split between the variant and classic P. ovale is estimated to have occurred 1.7 million years ago.

High-performance web services for querying gene and variant annotation.

Science.gov (United States)

Xin, Jiwen; Mark, Adam; Afrasiabi, Cyrus; Tsueng, Ginger; Juchler, Moritz; Gopal, Nikhil; Stupp, Gregory S; Putman, Timothy E; Ainscough, Benjamin J; Griffith, Obi L; Torkamani, Ali; Whetzel, Patricia L; Mungall, Christopher J; Mooney, Sean D; Su, Andrew I; Wu, Chunlei

2016-05-06

Efficient tools for data management and integration are essential for many aspects of high-throughput biology. In particular, annotations of genes and human genetic variants are commonly used but highly fragmented across many resources. Here, we describe MyGene.info and MyVariant.info, high-performance web services for querying gene and variant annotation information. These web services are currently accessed more than three million times permonth. They also demonstrate a generalizable cloud-based model for organizing and querying biological annotation information. MyGene.info and MyVariant.info are provided as high-performance web services, accessible at http://mygene.info and http://myvariant.info . Both are offered free of charge to the research community.

Prebiotic Competition between Information Variants, With Low Error Catastrophe Risks

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Radu Popa

2015-07-01

Full Text Available During competition for resources in primitive networks increased fitness of an information variant does not necessarily equate with successful elimination of its competitors. If variability is added fast to a system, speedy replacement of pre-existing and less-efficient forms of order is required as novel information variants arrive. Otherwise, the information capacity of the system fills up with information variants (an effect referred as “error catastrophe”. As the cost for managing the system’s exceeding complexity increases, the correlation between performance capabilities of information variants and their competitive success decreases, and evolution of such systems toward increased efficiency slows down. This impasse impedes the understanding of evolution in prebiotic networks. We used the simulation platform Biotic Abstract Dual Automata (BiADA to analyze how information variants compete in a resource-limited space. We analyzed the effect of energy-related features (differences in autocatalytic efficiency, energy cost of order, energy availability, transformation rates and stability of order on this competition. We discuss circumstances and controllers allowing primitive networks acquire novel information with minimal “error catastrophe” risks. We present a primitive mechanism for maximization of energy flux in dynamic networks. This work helps evaluate controllers of evolution in prebiotic networks and other systems where information variants compete.

Single-variant and multi-variant trend tests for genetic association with next-generation sequencing that are robust to sequencing error.

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Kim, Wonkuk; Londono, Douglas; Zhou, Lisheng; Xing, Jinchuan; Nato, Alejandro Q; Musolf, Anthony; Matise, Tara C; Finch, Stephen J; Gordon, Derek

2012-01-01

As with any new technology, next-generation sequencing (NGS) has potential advantages and potential challenges. One advantage is the identification of multiple causal variants for disease that might otherwise be missed by SNP-chip technology. One potential challenge is misclassification error (as with any emerging technology) and the issue of power loss due to multiple testing. Here, we develop an extension of the linear trend test for association that incorporates differential misclassification error and may be applied to any number of SNPs. We call the statistic the linear trend test allowing for error, applied to NGS, or LTTae,NGS. This statistic allows for differential misclassification. The observed data are phenotypes for unrelated cases and controls, coverage, and the number of putative causal variants for every individual at all SNPs. We simulate data considering multiple factors (disease mode of inheritance, genotype relative risk, causal variant frequency, sequence error rate in cases, sequence error rate in controls, number of loci, and others) and evaluate type I error rate and power for each vector of factor settings. We compare our results with two recently published NGS statistics. Also, we create a fictitious disease model based on downloaded 1000 Genomes data for 5 SNPs and 388 individuals, and apply our statistic to those data. We find that the LTTae,NGS maintains the correct type I error rate in all simulations (differential and non-differential error), while the other statistics show large inflation in type I error for lower coverage. Power for all three methods is approximately the same for all three statistics in the presence of non-differential error. Application of our statistic to the 1000 Genomes data suggests that, for the data downloaded, there is a 1.5% sequence misclassification rate over all SNPs. Finally, application of the multi-variant form of LTTae,NGS shows high power for a number of simulation settings, although it can have

Microcystic Variant of Urothelial Carcinoma

Directory of Open Access Journals (Sweden)

Anthony Kodzo-Grey Venyo

2013-01-01

Full Text Available Background. Microcystic variant of urothelial carcinoma is one of the new variants of urothelial carcinoma that was added to the WHO classification in 2004. Aims. To review the literature on microcystic variant of urothelial carcinoma. Methods. Various internet search engines were used to identify reported cases of the tumour. Results. Microscopic features of the tumour include: (i Conspicuous intracellular and intercellular lumina/microcysts encompassed by malignant urothelial or squamous cells. (ii The lumina are usually empty; may contain granular eosinophilic debris, mucin, or necrotic cells. (iii The cysts may be variable in size; round, or oval, up to 2 mm; lined by urothelium which are either flattened cells or low columnar cells however, they do not contain colonic epithelium or goblet cells; are infiltrative; invade the muscularis propria; mimic cystitis cystica and cystitis glandularis; occasionally exhibit neuroendocrine differentiation. (iv Elongated and irregular branching spaces are usually seen. About 17 cases of the tumour have been reported with only 2 patients who have survived. The tumour tends to be of high-grade and high-stage. There is no consensus opinion on the best option of treatment of the tumour. Conclusions. It would prove difficult at the moment to be dogmatic regarding its prognosis but it is a highly aggressive tumour. New cases of the tumour should be reported in order to document its biological behaviour.

Diverse Functional Properties of Wilson Disease ATP7B Variants

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Huster, Dominik; Kühne, Angelika; Bhattacharjee, Ashima; Raines, Lily; Jantsch, Vanessa; Noe, Johannes; Schirrmeister, Wiebke; Sommerer, Ines; Sabri, Osama; Berr, Frieder; Mössner, Joachim; Stieger, Bruno; Caca, Karel; Lutsenko, Svetlana

2012-01-01

BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper (64Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and were tagged with green fluorescent protein in mammalian cells using confocal laser scanning microscopy. RESULTS Properties of ATP7B variants with pathogenic amino-acid substitution varied greatly even if substitutions were in the same functional domain. Some variants had complete loss of catalytic and transport activity, whereas others lost transport activity but retained phosphor-intermediate formation or had partial losses of activity. In mammalian cells, transport-competent variants differed in stability and subcellular localization. CONCLUSIONS Variants in ATP7B associated with Wilson disease disrupt the protein’s transport activity, result in its mislocalization, and reduce its stability. Single assays are insufficient to accurately predict the effects of ATP7B variants the function of its product and development of Wilson disease. These findings will contribute to our understanding of genotype–phenotype correlation and mechanisms of disease pathogenesis. PMID:22240481

Elimination of cusps in dimension 4 and its applications

NARCIS (Netherlands)

Behrens, S.|info:eu-repo/dai/nl/380140217; Hayano, Kenta

2016-01-01

We study a class of homotopies between maps from 4-manifolds to surfaces which we call cusp merges. These homotopies naturally appear in the uniqueness problems for certain pictorial descriptions of 4-manifolds derived from maps to the 2-sphere (for example, broken Lefschetz fibrations, wrinkled

Health anxiety and attentional bias: the time course of vigilance and avoidance in light of pictorial illness information.

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Jasper, Fabian; Witthöft, Michael

2011-12-01

Cognitive-behavioral models of health anxiety stress the importance of selective attention not only towards internal but also towards external health threat related stimuli. Yet, little is known about the time course of this attentional bias. The current study investigates threat related attentional bias in participants with varying degrees of health anxiety. Attentional bias was assessed using a visual dot-probe task with health-threat and neutral pictures at two exposure durations, 175ms and 500ms. A baseline condition was added to the dot-probe task to dissociate indices of vigilance towards threat and difficulties to disengage from threat. Substantial positive correlations of health anxiety, anxiety sensitivity, and absorption with difficulties to disengage from threat were detected at 500ms exposure time. At an early stage (i.e., at 175ms exposure time), we found significant positive correlations of health anxiety and absorption with orientation towards threat. Results suggest a vigilance avoidance pattern of selective attention associated with pictorial illness related stimuli in health anxiety. Copyright © 2011 Elsevier Ltd. All rights reserved.

Relation of genomic variants for Alzheimer disease dementia to common neuropathologies.

Science.gov (United States)

Farfel, Jose M; Yu, Lei; Buchman, Aron S; Schneider, Julie A; De Jager, Philip L; Bennett, David A

2016-08-02

To investigate the associations of previously reported Alzheimer disease (AD) dementia genomic variants with common neuropathologies. This is a postmortem study including 1,017 autopsied participants from 2 clinicopathologic cohorts. Analyses focused on 22 genomic variants associated with AD dementia in large-scale case-control genome-wide association study (GWAS) meta-analyses. The neuropathologic traits of interest were a pathologic diagnosis of AD according to NIA-Reagan criteria, macroscopic and microscopic infarcts, Lewy bodies (LB), and hippocampal sclerosis. For each variant, multiple logistic regression was used to investigate its association with neuropathologic traits, adjusting for age, sex, and subpopulation structure. We also conducted power analyses to estimate the sample sizes required to detect genome-wide significance (p dementia variants are not likely to be detected for association with pathologic AD with a sample size in excess of the largest GWAS meta-analyses of AD dementia. Many recently discovered genomic variants for AD dementia are not associated with the pathology of AD. Some genomic variants for AD dementia appear to be associated with other common neuropathologies. © 2016 American Academy of Neurology.

Ultrastructural studies on variants of Streptomyces SP-765 obtained after gamma irradiation

International Nuclear Information System (INIS)

Spasova, D.I.; Krystev, Kh.I.; Todorov, I.O.; Dzhedzheva, G.M.; Popov, M.S.

1988-01-01

The study has been carried out with two variants of Streptomyces SP-765, gray and olygosporous, obtained after 1000 Gy gamma irradiation of spore suspension from the initial strain. The gray variant has chains of spores which are oval or oblong with rounded-off edges. Sporulation is highly inhibited in the olygosporous variant. Eleven electron-microscopic pictures of ultrathin sections from colonies of the two variants are presented. The gray variant reveals the presence of a large number of lyzed cells, spores, and scarce vegetative cells; typical of the lyzed cells are the spherical and highly osmiophilic formations on the outer and inner surface of their cytoplasmic membrane. The oligosporous variant shows lyzed cells of various sizes, cells void of content with thick walls, relativelly small number of vegetative cells and individual wall-less cells, shperoplast and protoplast formation, lamellar membrane structure of nearly all cells. Both lyzed and vegetable cells have individual anomalous form containing daughter cells. The conclusion is made that gray and oligosporous variants of Streptomyces SP-765, obtained after irradiation of its spores, possess different ultrastructural organization

Incidental copy-number variants identified by routine genome testing in a clinical population

Science.gov (United States)

Boone, Philip M.; Soens, Zachry T.; Campbell, Ian M.; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita; Beaudet, Arthur L.; Plon, Sharon E.; Shaw, Chad A.; McGuire, Amy L.; Lupski, James R.

2013-01-01

Purpose Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained. Methods Array comparative genomic hybridization, a method for genome-wide detection of DNA copy-number variants, was performed clinically on DNA from 9,005 individuals. Copy-number variants encompassing or disrupting single genes were identified and analyzed for their potential to confer predisposition to dominant, adult-onset disease. Multigene copy-number variants affecting dominant, adult-onset cancer syndrome genes were also assessed. Results In our cohort, 83 single-gene copy-number variants affected 40 unique genes associated with dominant, adult-onset disorders and unrelated to the patients’ referring diagnoses (i.e., incidental) were found. Fourteen of these copy-number variants are likely disease-predisposing, 25 are likely benign, and 44 are of unknown clinical consequence. When incidental copy-number variants spanning up to 20 genes were considered, 27 copy-number variants affected 17 unique genes associated with dominant, adult-onset cancer predisposition. Conclusion Copy-number variants potentially conferring susceptibility to adult-onset disease can be identified as incidental findings during routine genome-wide testing. Some of these mutations may be medically actionable, enabling disease surveillance or prevention; however, most incidentally observed single-gene copy-number variants are currently of unclear significance to the patient. PMID:22878507

Time-variant random interval natural frequency analysis of structures

Science.gov (United States)

Wu, Binhua; Wu, Di; Gao, Wei; Song, Chongmin

2018-02-01

This paper presents a new robust method namely, unified interval Chebyshev-based random perturbation method, to tackle hybrid random interval structural natural frequency problem. In the proposed approach, random perturbation method is implemented to furnish the statistical features (i.e., mean and standard deviation) and Chebyshev surrogate model strategy is incorporated to formulate the statistical information of natural frequency with regards to the interval inputs. The comprehensive analysis framework combines the superiority of both methods in a way that computational cost is dramatically reduced. This presented method is thus capable of investigating the day-to-day based time-variant natural frequency of structures accurately and efficiently under concrete intrinsic creep effect with probabilistic and interval uncertain variables. The extreme bounds of the mean and standard deviation of natural frequency are captured through the embedded optimization strategy within the analysis procedure. Three particularly motivated numerical examples with progressive relationship in perspective of both structure type and uncertainty variables are demonstrated to justify the computational applicability, accuracy and efficiency of the proposed method.

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Science.gov (United States)

Marsh, Judith C W; Gutierrez-Rodrigues, Fernanda; Cooper, James; Jiang, Jie; Gandhi, Shreyans; Kajigaya, Sachiko; Feng, Xingmin; Ibanez, Maria Del Pilar F; Donaires, Flávia S; Lopes da Silva, João P; Li, Zejuan; Das, Soma; Ibanez, Maria; Smith, Alexander E; Lea, Nicholas; Best, Steven; Ireland, Robin; Kulasekararaj, Austin G; McLornan, Donal P; Pagliuca, Anthony; Callebaut, Isabelle; Young, Neal S; Calado, Rodrigo T; Townsley, Danielle M; Mufti, Ghulam J

2018-01-09

Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59). Twenty-three RTEL1 variants were identified in 27 unrelated patients from both cohorts: 7 variants were likely pathogenic, 13 were of uncertain significance, and 3 were likely benign. Likely pathogenic RTEL1 variants were identified in 9 unrelated patients (7 heterozygous and 2 biallelic). Most patients were suspected to have constitutional BMF, which included aplastic anemia (AA), unexplained cytopenia, hypoplastic myelodysplastic syndrome, and macrocytosis with hypocellular bone marrow. In the other 18 patients, RTEL1 variants were likely benign or of uncertain significance. Telomeres were short in 21 patients (78%), and 3' telomeric overhangs were significantly eroded in 4. In summary, heterozygous RTEL1 variants were associated with marrow failure, and telomere length measurement alone may not identify patients with telomere dysfunction carrying RTEL1 variants. Pathogenicity assessment of heterozygous RTEL1 variants relied on a combination of clinical, computational, and functional data required to avoid misinterpretation of common variants.

Reversion in variants from a duplication strain of Aspergillus nidulans

International Nuclear Information System (INIS)

Menezes, E.M.; Azevedo, J.L.

1978-01-01

Strains of Aspergillus nidulans with a chromosome segment in duplicate, one in normal position and one translocated to another chromosome, are unstable at mitosis. In addition to variants which result from deletions in either of the duplicate segments, which usually have improved morphology, they produce variants with deteriorated morphology. Three deteriorated variants reverted frequently to parental type morphology, both spontaneously and after ultra-violet treatment. Of six reversions analysed genetically, five were due to suppressors and one was probably due to back mutation. The suppressors segregated as single genes and were not linked to the mutation which they suppress. The instability of these so-called 'deteriorated' variants is discussed in relation to mitotic instability phenomena in A. nidulans. (orig.) [de

Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

DEFF Research Database (Denmark)

Winham, Stacey J; Pirie, Ailith; Chen, Yian Ann

2016-01-01

). Results: No individual variant reached genome-wide statistical significance. A SNP previously implicated to be associated with EOC risk and, to a lesser extent, survival, rs8170, showed the strongest evidence of association with survival and similar effect size estimates across sets (Pmeta=1.1E-6,HRSet1......=1.17,HRSet2= 1.14). Rare variants in ATG2B, an autophagy gene important for apoptosis, were significantly associated with survival after multiple testing correction (Pmeta = 1.1E-6; Pcorrected = 0.01). Conclusions: Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival...

Micromechanics of transformation-induced plasticity and variant coalescence

International Nuclear Information System (INIS)

Marketz, F.; Fischer, F.D.; University for Mining and Metallurgy, Leoben; Tanaka, K.

1996-01-01

Quantitative micromechanics descriptions of both transformation-induced plasticity (TRIP) associated with the martensitic transformation in an Fe-Ni alloy and of variant coalescence in a Cu-Al-Ni shape memory alloy are presented. The macroscopic deformation behavior of a polycrystalline aggregate as a result of the rearrangements within the crystallites is modelled with the help of a finite element based periodic microfield approach. In the case of TRIP the parent→martensite transformation is described by microscale thermodynamic and kinetic equations taking into account internal stress states. The simulation of a classical experiment on TRIP allows to quantify the Magee-effect and the Greenwood-Johnson effect. Furthermore, the development of the martensitic microstructure is studied with respect to the stress-assisted transformation of preferred variants. In the case of variant coalescence the strain energy due to internal stress states has an important influence on the mechanical behavior. Formulating the reorientation process on the size scale of self-accommodating plate groups in terms of the mobility of the boundaries between martensitic variants the macroscopic behavior in uniaxial tension is predicted by an incremental modelling procedure. Furthermore, influence of energy dissipation on the overall behavior is quantified. (orig.)

TIAM1 variants improve clinical outcome in neuroblastoma.

Science.gov (United States)

Sanmartín, Elena; Yáñez, Yania; Fornés-Ferrer, Victoria; Zugaza, José L; Cañete, Adela; Castel, Victoria; Font de Mora, Jaime

2017-07-11

Identification of tumor driver mutations is crucial for improving clinical outcome using a personalized approach to the treatment of cancer. Neuroblastoma is a tumor of the peripheral sympathetic nervous system for which only a few driver alterations have been described including MYCN amplification and ALK mutations. We assessed 106 primary neuroblastoma tumors by next generation sequencing using a customized amplicon-based gene panel. Our results reveal that genetic variants in TIAM1 gene associate with better clinical outcome, suggesting a role for these TIAM1 variants in preventing progression of this disease. The detected variants are located within the different domains of TIAM1 that signal to the upstream regulator RAS and downstream effector molecules MYC and RAC, which are all implicated in neuroblastoma etiology and progression. Clinical outcome was improved in tumors where a TIAM1 variant was present concomitantly with either ALK mutation or MYCN amplification. Given the function of these signaling molecules in cell survival, proliferation, differentiation and neurite outgrowth, our data suggest that the TIAM1-mediated network is essential to neuroblastoma and thus, inhibiting TIAM1 reflects a rational strategy for improving therapy efficacy in neuroblastoma.

Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.

Science.gov (United States)

Gray, Vanessa E; Hause, Ronald J; Luebeck, Jens; Shendure, Jay; Fowler, Douglas M

2018-01-24

Large datasets describing the quantitative effects of mutations on protein function are becoming increasingly available. Here, we leverage these datasets to develop Envision, which predicts the magnitude of a missense variant's molecular effect. Envision combines 21,026 variant effect measurements from nine large-scale experimental mutagenesis datasets, a hitherto untapped training resource, with a supervised, stochastic gradient boosting learning algorithm. Envision outperforms other missense variant effect predictors both on large-scale mutagenesis data and on an independent test dataset comprising 2,312 TP53 variants whose effects were measured using a low-throughput approach. This dataset was never used for hyperparameter tuning or model training and thus serves as an independent validation set. Envision prediction accuracy is also more consistent across amino acids than other predictors. Finally, we demonstrate that Envision's performance improves as more large-scale mutagenesis data are incorporated. We precompute Envision predictions for every possible single amino acid variant in human, mouse, frog, zebrafish, fruit fly, worm, and yeast proteomes (https://envision.gs.washington.edu/). Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital anomalies of the inferior vena cava: importance of multiplanar imaging methods: an iconographic essay; Anomalias congenitas da veia cava inferior: valor dos metodos multiplanares em seu diagnostico - ensaio iconografico

Energy Technology Data Exchange (ETDEWEB)

Viana, Sergio Lopes; Mendonca, Jose Luiz Furtado de; Freitas, Flavia Mendes Oliveira [Clinica Radiologica Vila Rica, Brasilia, DF (Brazil)] (and others). E-mail: radiolog@uol.com.br

2006-10-15

The inferior vena cava is the result of a complex embryologic process which takes place between 6 and 8 weeks of intra-uterine life. Several variations can occur during this process, and a defective embryogenesis of this vessel may lead to the development of anatomic variants. Although many of these variants are asymptomatic, the radiologist should be aware of them and of the potential medico-legal issues involved, especially in cases in which abdominal surgery or hemodynamic procedures are contemplated. In this paper, the major congenital anomalies involving the inferior vena cava are reviewed under the form of a pictorial essay, highlighting the role of the multiplanar imaging methods (volumetric computed tomography and magnetic resonance imaging) in their diagnosis. Keywords: Congenital variations; Inferior vena cava; Renal veins; Computed tomography; Magnetic resonance imaging. author)

Leapfrog variants of iterative methods for linear algebra equations

Science.gov (United States)

Saylor, Paul E.

1988-01-01

Two iterative methods are considered, Richardson's method and a general second order method. For both methods, a variant of the method is derived for which only even numbered iterates are computed. The variant is called a leapfrog method. Comparisons between the conventional form of the methods and the leapfrog form are made under the assumption that the number of unknowns is large. In the case of Richardson's method, it is possible to express the final iterate in terms of only the initial approximation, a variant of the iteration called the grand-leap method. In the case of the grand-leap variant, a set of parameters is required. An algorithm is presented to compute these parameters that is related to algorithms to compute the weights and abscissas for Gaussian quadrature. General algorithms to implement the leapfrog and grand-leap methods are presented. Algorithms for the important special case of the Chebyshev method are also given.

Characterization of Canine parvovirus 2 variants circulating in Greece.

Science.gov (United States)

Ntafis, Vasileios; Xylouri, Eftychia; Kalli, Iris; Desario, Costantina; Mari, Viviana; Decaro, Nicola; Buonavoglia, Canio

2010-09-01

The aim of the present study was to characterize Canine parvovirus 2 (CPV-2) variants currently circulating in Greece. Between March 2008 and March 2009, 167 fecal samples were collected from diarrheic dogs from different regions of Greece. Canine parvovirus 2 was detected by standard polymerase chain reaction, whereas minor groove binder probe assays were used to distinguish genetic variants and discriminate between vaccine and field strains. Of 84 CPV-2-positive samples, 81 CPV-2a, 1 CPV-2b, and 2 CPV-2c were detected. Vaccine strains were not detected in any sample. Sequence analysis of the VP2 gene of the 2 CPV-2c viruses revealed up to 100% amino acid identity with the CPV-2c strains previously detected in Europe. The results indicated that, unlike other European countries, CPV-2a remains the most common variant in Greece, and that the CPV-2c variant found in Europe is also present in Greece.

wANNOVAR: annotating genetic variants for personal genomes via the web.

Science.gov (United States)

Chang, Xiao; Wang, Kai

2012-07-01

High-throughput DNA sequencing platforms have become widely available. As a result, personal genomes are increasingly being sequenced in research and clinical settings. However, the resulting massive amounts of variants data pose significant challenges to the average biologists and clinicians without bioinformatics skills. We developed a web server called wANNOVAR to address the critical needs for functional annotation of genetic variants from personal genomes. The server provides simple and intuitive interface to help users determine the functional significance of variants. These include annotating single nucleotide variants and insertions/deletions for their effects on genes, reporting their conservation levels (such as PhyloP and GERP++ scores), calculating their predicted functional importance scores (such as SIFT and PolyPhen scores), retrieving allele frequencies in public databases (such as the 1000 Genomes Project and NHLBI-ESP 5400 exomes), and implementing a 'variants reduction' protocol to identify a subset of potentially deleterious variants/genes. We illustrated how wANNOVAR can help draw biological insights from sequencing data, by analysing genetic variants generated on two Mendelian diseases. We conclude that wANNOVAR will help biologists and clinicians take advantage of the personal genome information to expedite scientific discoveries. The wANNOVAR server is available at http://wannovar.usc.edu, and will be continuously updated to reflect the latest annotation information.

Differences in antimicrobial susceptibility of pigmented and unpigmented colonial variants of Mycobacterium avium.

Science.gov (United States)

Stormer, R S; Falkinham, J O

1989-01-01

Unpigmented colonial variants were isolated from pigmented Mycobacterium avium isolates recovered from patients with acquired immunodeficiency syndrome and the environment. The variants were interconvertible: the rate of transition from unpigmented to pigmented type was 4.0 x 10(-5) variants per cell per generation. The unpigmented variants were more tolerant to antibiotics, especially beta-lactams, and Cd2+ and Cu2+ salts than were their pigmented parents. Both pigmented and unpigmented variants of the strains produced beta-lactamase, although beta-lactamase did not appear to be a determinant of beta-lactam susceptibility. Pigmented variants grew more rapidly in a number of commonly used mycobacterial media, were more hydrophobic, and had higher carotenoid contents than their unpigmented segregants. PMID:2808669

Identification of POMC exonic variants associated with substance dependence and body mass index.

Directory of Open Access Journals (Sweden)

Fan Wang

Full Text Available Risk of substance dependence (SD and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC.POMC exons were Sanger sequenced in 280 African Americans (AAs and 308 European Americans (EAs. Among them, 311 (167 AAs and 114 EAs were affected with substance (alcohol, cocaine, opioid and/or marijuana dependence and 277 (113 AAs and164 EAs were screened controls. We identified 23 variants, including two common polymorphisms (rs10654394 and rs1042571 and 21 rare variants; 12 of which were novel. We used logistic regression to analyze the association between the two common variants and SD or body mass index (BMI, with sex, age, and ancestry proportion as covariates. The common variant rs1042571 in the 3'UTR was significantly associated with BMI in EAs (Overweight: P(adj = 0.005; Obese: P(adj = 0.018; Overweight+Obese: P(adj = 0.002 but not in AAs. The common variant, rs10654394, was not associated with BMI and neither common variant was associated with SD in either population. To evaluate the association between the rare variants and SD or BMI, we collapsed rare variants and tested their prevalence using Fisher's exact test. In AAs, rare variants were nominally associated with SD overall and with specific SD traits (SD: P(FET,1df = 0.026; alcohol dependence: P(FET,1df = 0.027; cocaine dependence: P(FET,1df = 0.007; marijuana dependence: P(FET,1df = 0.050 (the P-value from cocaine dependence analysis survived Bonferroni correction. There was no such effect in EAs. Although the frequency of the rare variants did not differ significantly between the normal-weight group and the overweight or obese group in either population, certain rare exonic variants occurred only in overweight or obese subjects without SD.These findings suggest that POMC exonic variants may influence risk for both SD and elevated BMI, in a population-specific manner. However, common and rare variants in this gene may exert

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature.

Science.gov (United States)

Lorenzo, Melissa; Stolte-Dijkstra, Irene; van Rheenen, Patrick; Smith, Ronald Garth; Scheers, Tom; Walia, Jagdeep S

2018-04-25

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit time, difficulty regulating temperature, several musculoskeletal issues, and a history of one grand mal seizure. Patient 2, 10-years-old, has mild dysmorphic features, therapy resistant vomiting with diminished motility of the stomach, mild constipation, cortical visual impairment with intermittent strabismus, axial hypotonia, difficulty regulating temperature, and cutaneous mastocytosis. Genetic testing identified KIAA2022 variant c.652C > T(p.Arg218*) in Patient 1, and a novel nonsense de novo variant c.2707G > T(p.Glu903*) in Patient 2. We also summarized features of all reported males with KIAA2022 variants to date. This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together. © 2018 Wiley Periodicals, Inc.

Cerivastatin, Genetic Variants, and the Risk of Rhabdomyolysis

Science.gov (United States)

Marciante, Kristin D.; Durda, Jon P.; Heckbert, Susan R.; Lumley, Thomas; Rice, Ken; McKnight, Barbara; Totah, Rheem A.; Tamraz, Bani; Kroetz, Deanna L.; Fukushima, Hisayo; Kaspera, Rüdiger; Bis, Joshua C.; Glazer, Nicole L.; Li, Guo; Austin, Thomas R.; Taylor, Kent D.; Rotter, Jerome I.; Jaquish, Cashell E.; Kwok, Pui-Yan; Tracy, Russell P.; Psaty, Bruce M.

2011-01-01

Objective The withdrawal of cerivastatin involved an uncommon but serious adverse reaction, rhabdomyolysis. The bimodal response--rhabdomyolysis in a small proportion of users-- points to genetic factors as a potential cause. We conducted a case-control study to evaluate genetic markers for cerivastatin-associated rhabdomyolysis. Methods The study had two components: a candidate gene study to evaluate variants in CYP2C8, UGT1A1, UGT1A3, and SLCO1B1; and a genome-wide association (GWA) study to identify risk factors in other regions of the genome. 185 rhabdomyolysis cases were frequency matched to statin-using controls from the Cardiovascular Health Study (n=374) and the Heart and Vascular Health Study (n=358). Validation relied on functional studies. Results Permutation test results suggested an association between cerivastatin-associated rhabdomyolysis and variants in SLCO1B1 (p = 0.002), but not variants in CYP2C8 (p = 0.073) or the UGTs (p = 0.523). An additional copy of the minor allele of SLCO1B1 rs4149056 (p.Val174Ala) was associated with the risk of rhabdomyolysis (OR: 1.89, 95% CI: 1.40 to 2.56). In transfected cells, this variant reduced cerivastatin transport by 40% compared with the reference transporter (p rhabdomyolysis (OR: 0.48; 95% CI: 0.36 to 0.63). Conclusion We identified modest genetic risk factors for an extreme response to cerivastatin. Disabling genetic variants in the candidate genes were not responsible for the bimodal response to cerivastatin. PMID:21386754

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Science.gov (United States)

Astuti, Galuh D N; van den Born, L Ingeborgh; Khan, M Imran; Hamel, Christian P; Bocquet, Béatrice; Manes, Gaël; Quinodoz, Mathieu; Ali, Manir; Toomes, Carmel; McKibbin, Martin; El-Asrag, Mohammed E; Haer-Wigman, Lonneke; Inglehearn, Chris F; Black, Graeme C M; Hoyng, Carel B; Cremers, Frans P M; Roosing, Susanne

2018-01-10

Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs. Homozygosity mapping data was available for five cases. Variants with minor allele frequencies ≤ 0.5% in public databases were selected as candidate disease-causing variants. These variants were ranked based on their: (a) presence in a gene that was previously implicated in IRD; (b) minor allele frequency in the Exome Aggregation Consortium database (ExAC); (c) in silico pathogenicity assessment using the combined annotation dependent depletion (CADD) score; and (d) interaction of the corresponding protein with known IRD-associated proteins. Twelve unique variants were found in 11 different genes in 11 IRD probands. Novel autosomal recessive and dominant inheritance patterns were found for variants in Small Nuclear Ribonucleoprotein U5 Subunit 200 ( SNRNP200 ) and Zinc Finger Protein 513 ( ZNF513 ), respectively. Using our pathogenicity assessment, a variant in DEAH-Box Helicase 32 ( DHX32 ) was the top ranked novel candidate gene to be associated with IRDs, followed by eight medium and lower ranked candidate genes. The identification of candidate disease-associated sequence variants in 11 single families underscores the notion that the previously identified IRD-associated genes collectively carry > 90% of the defects implicated in IRDs. To identify multiple patients or families with variants in the same gene and thereby provide extra proof for pathogenicity, worldwide data sharing is needed.

Integrating functional data to prioritize causal variants in statistical fine-mapping studies.

Directory of Open Access Journals (Sweden)

Gleb Kichaev

2014-10-01

Full Text Available Standard statistical approaches for prioritization of variants for functional testing in fine-mapping studies either use marginal association statistics or estimate posterior probabilities for variants to be causal under simplifying assumptions. Here, we present a probabilistic framework that integrates association strength with functional genomic annotation data to improve accuracy in selecting plausible causal variants for functional validation. A key feature of our approach is that it empirically estimates the contribution of each functional annotation to the trait of interest directly from summary association statistics while allowing for multiple causal variants at any risk locus. We devise efficient algorithms that estimate the parameters of our model across all risk loci to further increase performance. Using simulations starting from the 1000 Genomes data, we find that our framework consistently outperforms the current state-of-the-art fine-mapping methods, reducing the number of variants that need to be selected to capture 90% of the causal variants from an average of 13.3 to 10.4 SNPs per locus (as compared to the next-best performing strategy. Furthermore, we introduce a cost-to-benefit optimization framework for determining the number of variants to be followed up in functional assays and assess its performance using real and simulation data. We validate our findings using a large scale meta-analysis of four blood lipids traits and find that the relative probability for causality is increased for variants in exons and transcription start sites and decreased in repressed genomic regions at the risk loci of these traits. Using these highly predictive, trait-specific functional annotations, we estimate causality probabilities across all traits and variants, reducing the size of the 90% confidence set from an average of 17.5 to 13.5 variants per locus in this data.

ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

Directory of Open Access Journals (Sweden)

Ishwar Sidappa Hasabi

2017-02-01

Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

HABP2 G534E Variant in Papillary Thyroid Carcinoma.

Directory of Open Access Journals (Sweden)

Jerneja Tomsic

Full Text Available The main nonmedullary form of thyroid cancer is papillary thyroid carcinoma (PTC that accounts for 80-90% of all thyroid malignancies. Only 3-10% of PTC patients have a positive family history of PTC yet the familiality is one of the highest of all cancers as measured by case control studies. A handful of genes have been implicated accounting for a small fraction of this genetic predisposition. It was therefore of considerable interest that a mutation in the HABP2 gene was recently implicated in familial PTC. The present work was undertaken to examine the extent of HABP2 variant involvement in PTC. The HABP2 G534E variant (rs7080536 was genotyped in blood DNA from 179 PTC families (one affected individual per family, 1160 sporadic PTC cases and 1395 controls. RNA expression of HABP2 was tested by qPCR in RNA extracted from tumor and normal thyroid tissue from individuals that are homozygous wild-type or heterozygous for the variant. The variant was found to be present in 6.1% familial cases, 8.0% sporadic cases (2 individuals were homozygous for the variant and 8.7% controls. The variant did not segregate with PTC in one large and 6 smaller families in which it occurred. In keeping with data from the literature and databases the expression of HABP2 was highest in the liver, much lower in 3 other tested tissues (breast, kidney, brain but not found in thyroid. Given these results showing lack of any involvement we suggest that the putative role of variant HABP2 in PTC should be carefully scrutinized.

Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Directory of Open Access Journals (Sweden)

Filipović-Tričković Jelena

2017-01-01

Full Text Available Fanconi anemia is rare inherited disease characterized by wide spectrum of congenital anomalies, progressive pancytopenia, and predisposition to hematological malignancies and solid tumors. Molecular genetic analysis of mutations in FANC genes is of a great importance for diagnosis confirmation, prenatal and carrier testing, as well as for prediction of chemotherapy outcome and disease complications. In this study we performed screening of frequently affected regions of FANCD2 gene for sequence variants in six unrelated FA-D2 patients in Serbia. This is the first molecular analysis of FANCD2 gene in Serbian FA-D2 patients. A total of 10 sequence variants were detected, one in homozygous, and nine in heterozygous state. Two variants were found within exons, and eight within introns, in deep intronic regions. In-silico analysis showed that among all detected variants one exon variant and three intron variants might have impact on splicing mechanism. Heterozygous variants found in intron 3, c.206-246delG; exon 26, c.2396 C>A and intron 28, c.2715+573 C>T were not previously reported. In-silico analysis revealed that among them, two (intron 3, c.206-246 delG and exon 26, c.2396 C>A could be novel disease-causing mutations. Many variants were found in more than one patient, including those unreported, indicating their possible ethnic association. Great number of variants in some patients suggests their non-random emergence in Fanconi anemia pathway. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 173046

Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy

Science.gov (United States)

2017-10-01

resistant prostate cancer ; docetaxel; cabazitaxel; chemotherapy; androgen receptor splice variants; microtubule; ligand-binding domain; microtubule... receptor splice variants (AR-Vs) are associated with resistance to taxane chemotherapy in castration- resistant prostate cancer (CRPC). However, this...androgen receptor inhibitors in prostate cancer . Nat Rev Cancer . 2015;15:701–11.

PET/TAC: Basic principles, physiological variants and artifacts; PET/TAC: Generalidades, variantes fisiologicas y artefactos

Energy Technology Data Exchange (ETDEWEB)

Jimenez V, A.M. [Especialista en Medicina Nuclear, Profa. Depto. Radiologia de la Facultad de Medicina, Universidad Complutense de Madrid, Madrid (Spain)

2007-07-01

This presentation is about the basic principles, physiologic variants and devices that work in the PET/TAC technique. Next the conclusions obtained in the same one are presented: For a correct evaluation of the PET/TAC images with FDG is necessary the knowledge of the image acquisition technique, as well as of the physiologic distribution of the FDG, variants of the normality, benign causes of captation and more frequent devices. The introduction of this hybrid procedure allows the correct anatomical localization and identification of the deposits of FDG largely avoiding false or doubtful interpretations, but it can also originate not specific devices existent in the conventional PET. The previous knowledge of the possible devices will make possible in certain cases its elimination and in other its identification avoiding incorrect interpretations. (Author)

Structure of chymotrypsin variant B from Atlantic cod, Gadus morhua

DEFF Research Database (Denmark)

Leth-Larsen, Rikke; Asgeirsson, B; Thórólfsson, M

1996-01-01

The amino-acid sequence of chymotrypsin variant B isolated from the pyloric caeca of Atlantic cod has been elucidated. The characterization of the primary structure is based on N-terminal Edman degradation and mass spectrometry of the native protein and enzymatically derived peptides. Chymotrypsi...... autolysis sites, cod variant B only contains a single autolysis site. The three-dimensional structures of the A- and B-variants of cod has been modelled on the known crystal structure of bovine alpha-chymotrypsin showing almost superimposable structures....

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

DEFF Research Database (Denmark)

Paulussen, Aimee D C; Steyls, Anja; Vanoevelen, Jo

2016-01-01

male deaths due to heterotaxy in the family (n=1). All variants were located within the zinc-finger domains or leading to a truncation before these domains. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins, whereas the missense variant showed normal trafficking. Overexpression...

Rare human papillomavirus 16 E6 variants reveal significant oncogenic potential

Directory of Open Access Journals (Sweden)

Tommasino Massimo

2011-06-01

Full Text Available Abstract The aim of this study was to determine whether low prevalence human papillomavirus (HPV 16 E6 variants differ from high prevalence types in their functional abilities. We evaluated functions relevant to carcinogenesis for the rarely-detected European variants R8Q, R10G and R48W as compared to the commonly detected L83V. Human immortalized keratinocytes (NIKS stably transduced with the E6 variants were used in most functional assays. Low and high prevalence E6 variants displayed similar abilities in abrogation of growth arrest and inhibition of p53 elevation induced by actinomycin D. Differences were detected in the abilities to dysregulate stratification and differentiation of NIKS in organotypic raft cultures, modulate detachment induced apoptosis (anoikis and hyperactivate Wnt signaling. No distinctive phenotype could be assigned to include all rare variants. Like L83V, raft cultures derived from variants R10G and R48W similarly induced hyperplasia and aberrantly expressed keratin 5 in the suprabasal compartment with significantly lower expression of keratin 10. Unlike L83V, both variants, and particularly R48W, induced increased levels of anoikis upon suspension in semisolid medium. R8Q induced a unique phenotype characterized by thin organotypic raft cultures, low expression of keratin 10, and high expression of keratins 5 and 14 throughout all raft layers. Interestingly, in a reporter based assay R8Q exhibited a higher ability to augment TCF/β-catenin transcription. The data suggests that differences in E6 variant prevalence in cervical carcinoma may not be related to the carcinogenic potential of the E6 protein.

Imaging evaluation of middle ear cholesteatoma: iconographic essay

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Avila, Ana Flavia Assis de; Aburjeli, Bruna de Oliveira Melim; Moreira, Wanderval; Motta, Emilia Guerra Pinto Coelho; Ribeiro, Marcelo Almeida; Diniz, Renata Lopes Furletti Caldeira, E-mail: fauassis@hotmail.com [Hospital Mater Dei, Belo Horizonte, MG (Brazil)

2013-06-15

Middle ear cholesteatoma is a relevant and relatively common disease that may have severe consequences. In the present pictorial essay, the authors have selected illustrative examples of multislice computed tomography and magnetic resonance imaging depicting the main presentations of cholesteatomas, and describing their characteristics, locations, and major complications. (author)

The influence of presentation format and viewer training in the visual arts on the perception of pictorial and aesthetic qualities of paintings.

Science.gov (United States)

Locher, P J; Smith, J K; Smith, L F

2001-01-01

The comparability of viewers' responses to slide-projected and computer-generated images of nine paintings by renowned artists to those obtained from individuals experiencing the originals in the galleries of the New York Metropolitan Museum of Art was investigated. The influence of training in the visual arts upon evaluative judgments made under the three presentation formats was also assessed. Specifically, art-trained and untrained participants in each format condition rated each artwork on sixteen measures of physical and structural characteristics, novelty of content, and aesthetic qualities. Analyses revealed significant differences in the judged hedonic value of the originals as contrasted with the two types of reproduction, whereas trained and untrained participants' evaluations of the pictorial qualities of the artworks were comparable across presentation formats. Findings are discussed in terms of a facsimile-accommodation hypothesis proposed by the authors.

Genomewide association study identifies no major founder variant in ...

Indian Academy of Sciences (India)

2013-12-10

Dec 10, 2013 ... variant in Caucasian moyamoya disease ... 1Department of Health and Environmental Sciences, Kyoto University Graduate ... a low prevalence in European countries (Goto and Yonekawa. 1992; Kuroda and Houkin 2008). We have found that the p.R4810K variant in the ring finger protein 213 (RNF213).

COOL YOUNG STARS IN THE NORTHERN HEMISPHERE: β PICTORIS AND AB DORADUS MOVING GROUP CANDIDATES

International Nuclear Information System (INIS)

Schlieder, Joshua E.; Simon, Michal; Lépine, Sébastien

2012-01-01

As part of our continuing effort to identify new, low-mass members of nearby, young moving groups (NYMGs), we present a list of young, low-mass candidates in the northern hemisphere. We used our proven proper-motion selection procedure and ROSAT X-ray and GALEX-UV activity indicators to identify 204 young stars as candidate members of the β Pictoris and AB Doradus NYMGs. Definitive membership assignment of a given candidate will require a measurement of its radial velocity and distance. We present a simple system of indices to characterize the young candidates and help prioritize follow-up observations. New group members identified in this candidate list will be high priority targets for (1) exoplanet direct imaging searches, (2) the study of post-T-Tauri astrophysics, (3) understanding recent local star formation, and (4) the study of local galactic kinematics. Information available now allows us to identify eight likely new members in the list. Two of these, a late-K and an early-M dwarf, we find to be likely members of the β Pic group. The other six stars are likely members of the AB Dor moving group. These include an M dwarf triple system, and three very cool objects that may be young brown dwarfs, making them the lowest-mass, isolated objects proposed in the AB Dor moving group to date.

Screening for common copy-number variants in cancer genes.

Science.gov (United States)

Tyson, Jess; Majerus, Tamsin M O; Walker, Susan; Armour, John A L

2010-12-01

For most cases of colorectal cancer that arise without a family history of the disease, it is proposed that an appreciable heritable component of predisposition is the result of contributions from many loci. Although progress has been made in identifying single nucleotide variants associated with colorectal cancer risk, the involvement of low-penetrance copy number variants is relatively unexplored. We have used multiplex amplifiable probe hybridization (MAPH) in a fourfold multiplex (QuadMAPH), positioned at an average resolution of one probe per 2 kb, to screen a total of 1.56 Mb of genomic DNA for copy number variants around the genes APC, AXIN1, BRCA1, BRCA2, CTNNB1, HRAS, MLH1, MSH2, and TP53. Two deletion events were detected, one upstream of MLH1 in a control individual and the other in APC in a colorectal cancer patient, but these do not seem to correspond to copy number polymorphisms with measurably high population frequencies. In summary, by means of our QuadMAPH assay, copy number measurement data were of sufficient resolution and accuracy to detect any copy number variants with high probability. However, this study has demonstrated a very low incidence of deletion and duplication variants within intronic and flanking regions of these nine genes, in both control individuals and colorectal cancer patients. Copyright © 2010 Elsevier Inc. All rights reserved.

Coronary artery anatomy and variants

Energy Technology Data Exchange (ETDEWEB)

Malago, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicoli, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto [Policlinico G.B. Rossi, University of Verona, Department of Radiology, Verona (Italy)

2011-12-15

Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions. (orig.)

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

Science.gov (United States)

Jesús, Silvia; Huertas, Ismael; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

2016-01-01

The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson’s disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson’s patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants. PMID:28030538

Magni Reproducibility Example

DEFF Research Database (Denmark)

2016-01-01

An example of how to use the magni.reproducibility package for storing metadata along with results from a computational experiment. The example is based on simulating the Mandelbrot set.......An example of how to use the magni.reproducibility package for storing metadata along with results from a computational experiment. The example is based on simulating the Mandelbrot set....