XML DTD and Schemas for HDF-EOS

NASA Technical Reports Server (NTRS)

Ullman, Richard; Yang, Jingli

2008-01-01

An Extensible Markup Language (XML) document type definition (DTD) standard for the structure and contents of HDF-EOS files and their contents, and an equivalent standard in the form of schemas, have been developed.

Modeling the Arden Syntax for medical decisions in XML.

PubMed

Kim, Sukil; Haug, Peter J; Rocha, Roberto A; Choi, Inyoung

2008-10-01

A new model expressing Arden Syntax with the eXtensible Markup Language (XML) was developed to increase its portability. Every example was manually parsed and reviewed until the schema and the style sheet were considered to be optimized. When the first schema was finished, several MLMs in Arden Syntax Markup Language (ArdenML) were validated against the schema. They were then transformed to HTML formats with the style sheet, during which they were compared to the original text version of their own MLM. When faults were found in the transformed MLM, the schema and/or style sheet was fixed. This cycle continued until all the examples were encoded into XML documents. The original MLMs were encoded in XML according to the proposed XML schema and reverse-parsed MLMs in ArdenML were checked using a public domain Arden Syntax checker. Two hundred seventy seven examples of MLMs were successfully transformed into XML documents using the model, and the reverse-parse yielded the original text version of MLMs. Two hundred sixty five of the 277 MLMs showed the same error patterns before and after transformation, and all 11 errors related to statement structure were resolved in XML version. The model uses two syntax checking mechanisms, first an XML validation process, and second, a syntax check using an XSL style sheet. Now that we have a schema for ArdenML, we can also begin the development of style sheets for transformation ArdenML into other languages.

A Schema-Theoretic View of Reading. Technical Report No. 32.

ERIC Educational Resources Information Center

Adams, Marilyn Jager; Collins, Allan

This paper provides a general description of schema-theoretic models of language comprehension and examines some extensions of such models to the study of reading. The goal of schema theory is to specify the interface between the reader and the text: to specify how the reader's knowledge interacts with and shapes the information on the page and to…

Effort Drivers Estimation for Brazilian Geographically Distributed Software Development

NASA Astrophysics Data System (ADS)

Almeida, Ana Carina M.; Souza, Renata; Aquino, Gibeon; Meira, Silvio

To meet the requirements of today’s fast paced markets, it is important to develop projects on time and with the minimum use of resources. A good estimate is the key to achieve this goal. Several companies have started to work with geographically distributed teams due to cost reduction and time-to-market. Some researchers indicate that this approach introduces new challenges, because the teams work in different time zones and have possible differences in culture and language. It is already known that the multisite development increases the software cycle time. Data from 15 DSD projects from 10 distinct companies were collected. The analysis shows drivers that impact significantly the total effort planned to develop systems using DSD approach in Brazil.

The Schema Axiom as Foundation of a Theory for Measurement and Representation of Consciousness. No. 38.

ERIC Educational Resources Information Center

Bierschenk, Bernhard

In this study, the Kantian schema has been applied to natural language expression. The novelty of the approach concerns the way in which the Kantian schema interrelates the analytic with the synthetic mode in the construction of the presented formalism. The main thesis is based on the premise that the synthetic, in contrast to the analytic,…

Schema for Spacecraft-Command Dictionary

NASA Technical Reports Server (NTRS)

Laubach, Sharon; Garcia, Celina; Maxwell, Scott; Wright, Jesse

2008-01-01

An Extensible Markup Language (XML) schema was developed as a means of defining and describing a structure for capturing spacecraft command- definition and tracking information in a single location in a form readable by both engineers and software used to generate software for flight and ground systems. A structure defined within this schema is then used as the basis for creating an XML file that contains command definitions.

DOE Office of Scientific and Technical Information (OSTI.GOV)

North, Michael J.

SchemaOnRead provides tools for implementing schema-on-read including a single function call (e.g., schemaOnRead("filename")) that reads text (TXT), comma separated value (CSV), raster image (BMP, PNG, GIF, TIFF, and JPG), R data (RDS), HDF5, NetCDF, spreadsheet (XLS, XLSX, ODS, and DIF), Weka Attribute-Relation File Format (ARFF), Epi Info (REC), Pajek network (PAJ), R network (NET), Hypertext Markup Language (HTML), SPSS (SAV), Systat (SYS), and Stata (DTA) files. It also recursively reads folders (e.g., schemaOnRead("folder")), returning a nested list of the contained elements.

Design and analysis of DNA strand displacement devices using probabilistic model checking

PubMed Central

Lakin, Matthew R.; Parker, David; Cardelli, Luca; Kwiatkowska, Marta; Phillips, Andrew

2012-01-01

Designing correct, robust DNA devices is difficult because of the many possibilities for unwanted interference between molecules in the system. DNA strand displacement has been proposed as a design paradigm for DNA devices, and the DNA strand displacement (DSD) programming language has been developed as a means of formally programming and analysing these devices to check for unwanted interference. We demonstrate, for the first time, the use of probabilistic verification techniques to analyse the correctness, reliability and performance of DNA devices during the design phase. We use the probabilistic model checker prism, in combination with the DSD language, to design and debug DNA strand displacement components and to investigate their kinetics. We show how our techniques can be used to identify design flaws and to evaluate the merits of contrasting design decisions, even on devices comprising relatively few inputs. We then demonstrate the use of these components to construct a DNA strand displacement device for approximate majority voting. Finally, we discuss some of the challenges and possible directions for applying these methods to more complex designs. PMID:22219398

A cognitive approach to classifying perceived behaviors

NASA Astrophysics Data System (ADS)

Benjamin, Dale Paul; Lyons, Damian

2010-04-01

This paper describes our work on integrating distributed, concurrent control in a cognitive architecture, and using it to classify perceived behaviors. We are implementing the Robot Schemas (RS) language in Soar. RS is a CSP-type programming language for robotics that controls a hierarchy of concurrently executing schemas. The behavior of every RS schema is defined using port automata. This provides precision to the semantics and also a constructive means of reasoning about the behavior and meaning of schemas. Our implementation uses Soar operators to build, instantiate and connect port automata as needed. Our approach is to use comprehension through generation (similar to NLSoar) to search for ways to construct port automata that model perceived behaviors. The generality of RS permits us to model dynamic, concurrent behaviors. A virtual world (Ogre) is used to test the accuracy of these automata. Soar's chunking mechanism is used to generalize and save these automata. In this way, the robot learns to recognize new behaviors.

Mirror system activity for action and language is embedded in the integration of dorsal and ventral pathways.

PubMed

Arbib, Michael A

2010-01-01

We develop the view that the involvement of mirror neurons in embodied experience grounds brain structures that underlie language, but that many other brain regions are involved. We stress the cooperation between the dorsal and ventral streams in praxis and language. Both have perceptual and motor schemas but the perceptual schemas in the dorsal path are affordances linked to specific motor schemas for detailed motor control, whereas the ventral path supports planning and decision making. This frames the hypothesis that the mirror system for words evolved from the mirror system for actions to support words-as-phonological-actions, with semantics provided by the linkage to neural systems supporting perceptual and motor schemas. We stress the importance of computational models which can be linked to the parametric analysis of data and conceptual analysis of these models to support new patterns of understanding of the data. In the domain of praxis, we assess the FARS model of the canonical system for grasping, the MNS models for the mirror system for grasping, and the Augmented Competitive Queuing model that extends the control of action to the opportunistic scheduling of action sequences and also offers a new hypothesis on the role of mirror neurons in self action. Turning to language, we use Construction Grammar as our linguistic framework to get beyond single words to phrases and sentences, and initiate analysis of what brain functions must complement mirror systems to support this functionality. 2009 Elsevier Inc. All rights reserved.

Management of children with disorders of sex development: 20-year experience in southern Thailand.

PubMed

Jaruratanasirikul, Somchit; Engchaun, Vorapun

2014-05-01

Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand. The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed. Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females. Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

Dynamic Assessment or Schema Theory: The Case of Listening Comprehension

ERIC Educational Resources Information Center

Farangi, Mohamad Reza; Kheradmand Saadi, Zahra

2017-01-01

Not only is listening considered as an active skill nowadays, but also different approaches are suggested to incorporate it effectively into language classrooms. Our purpose, here, is to compare two approaches claiming to be effective in enhancing EFL learners' listening capabilities including schema theory and dynamic assessment. Through a…

Converting from XML to HDF-EOS

NASA Technical Reports Server (NTRS)

Ullman, Richard; Bane, Bob; Yang, Jingli

2008-01-01

A computer program recreates an HDF-EOS file from an Extensible Markup Language (XML) representation of the contents of that file. This program is one of two programs written to enable testing of the schemas described in the immediately preceding article to determine whether the schemas capture all details of HDF-EOS files.

Schema Theory and College English Reading Teaching

ERIC Educational Resources Information Center

Zhao, Xiaoguang; Zhu, Lei

2012-01-01

Reading plays a dominant role among the four skills in foreign language acquisition for college students. Unfortunately, over the past few decades, English teaching practice shows that Chinese students are vulnerable in it. Both their reading speed and their reading skills are far from being satisfactory. Schema theory presents a very efficient…

Parsing GML data based on integrative GML syntactic and semantic schemas database

NASA Astrophysics Data System (ADS)

Miao, Lizhi; Zhang, Shuliang; Lu, Guonian; Gao, Xiaoli; Jiao, Donglai; Gan, Jiayan

2007-06-01

This paper proposes a new method to parse various application schemas of Geography Markup Language (GML) for understanding syntax and semantic of their element and type in order to implement uniform interpretation of the same GML instance data among diverse users. The proposed method generates an Integrative GML Syntactic and Semantic Schemas Database (IGSSSDB) from GML3.1 core schemas and corresponding application schema. This paper parses GML data based on IGSSSDB, which is composed of syntactic and semantic information, nesting information and mapping rules of GML core schemas and application schemas. Three kinds of relational tables are designed for storing information from schemas when constructing IGSSSDB. Those are info tables for schemas included and namespace imported in application schemas, tables for information related to schemas and catalog tables of core schemas. In relational tables, we propose to use homologous regular expression to describe model of elements and complex types in schemas, which can ensure model complete and readable. Based on IGSSSDB, we design and develop many APIs to implement GML data parsing, and can process syntactic and semantic information of GML data from diverse fields and users. At the latter part of this paper, test study is implemented to show that the proposed method is feasible and appropriate for parsing GML data. Also, it founds a good basis for future GML data studies such as storage, index and query etc.

Building Trust: The History and Ongoing Relationships Amongst DSD Clinicians, Researchers, and Patient Advocacy Groups.

PubMed

Lossie, A C; Green, J

2015-05-01

Individuals born with differences or disorders of sex development (DSD) have been marginalized by society and the health care system. Standards of care in the mid-20(th) century were based on fixing the child with a DSD, using hormonal and surgical interventions; these treatments and the diagnoses were almost never disclosed to the child, and sometimes they were not disclosed to the parents. This led to secrecy, shame, and stigma. When these children became adults and demanded access to their medical records, the realization of the depth of secrecy led to the formation of activism groups that shook the medical community. Despite precarious beginnings, advocates, health care professionals, and researchers were able to elicit changes in the standard of care. The 2006 Consensus Statement on Management of Intersex Disorders called for a multidisciplinary approach to care and questioned the evidence for many of the standard procedures. Standard of care moved from a concealment model to a patient-centered paradigm, and funding agencies put resources into determining the future paths of research on DSD. Recognition of the need to address patient priorities led to changing international standards for including patients in research design. Some challenges that remain include: the findings from the Institute of Medicine that sexual and gender minorities experience poor health outcomes; establishing trust across all parties; developing a common language and creating venues where individuals can participate in dialogue that addresses personal experiences, research design, clinical practices and intervention strategies. © Georg Thieme Verlag KG Stuttgart · New York.

106-17 Telemetry Standards Metadata Configuration Chapter 23

DTIC Science & Technology

2017-07-01

23-1 23.2 Metadata Description Language ...Chapter 23, July 2017 iii Acronyms HTML Hypertext Markup Language MDL Metadata Description Language PCM pulse code modulation TMATS Telemetry...Attributes Transfer Standard W3C World Wide Web Consortium XML eXtensible Markup Language XSD XML schema document Telemetry Network Standard

Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study.

PubMed

Jürgensen, Martina; Kleinemeier, Eva; Lux, Anke; Steensma, Thomas D; Cohen-Kettenis, Peggy T; Hiort, Olaf; Thyen, Ute; Köhler, Birgit

2013-11-01

Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual orientation is unclear. Disorders of sex development (DSDs) are heterogeneous genetic conditions with different levels of prenatal androgens resulting in variations of genital development. Through DSD, the role of the different factors, especially androgen exposure, on psychosexual development can be evaluated. The purpose of the study was to assess psychosexual development in adolescents and adults with different forms of DSD. For the examination of psychosexual development of 66 adolescents and 110 adults with DSD, the authors used the Utrecht Gender Dysphoria Scale for adolescents, the Questionnaire of Gender Identity for adults, and a condition-specific DSD study questionnaire. Individuals were analyzed in four subgroups reflecting the karyotype, absence/presence of androgen effects, and gender of rearing. Main outcome measures used were gender identity, friendships, love and sexual relationships, and sexual orientation in adolescents and adults with DSD. Individuals with DSD did not show increased gender dysphoria. However, partnership and sexuality were identified to be difficult areas of life. Both adolescents and adults with DSD reported fewer experiences regarding love or sexual relationships compared with unaffected individuals. Especially men with DSD and undervirilization and women with DSD and androgen effects less often had a love relationship. Adult women with DSD and androgen effects more frequently engaged in love and sexual relationships with individuals of the same gender compared with women without DSD. Individuals with DSD experience atypical hormonal influences (higher levels of androgens in girls/women and lower levels in androgens in boys/men); however, they did not show increased gender dysphoria in this study. However, partnership and sexual relationships are difficult areas of life for adolescents and adults with DSD. We recommend that individuals with DSD should get support from a multiprofessional team with competency in assessing and counseling issues regarding relationships and sexuality. Contact to other individuals with DSD can be helpful for nonprofessional support and exchange of experiences. © 2012 International Society for Sexual Medicine.

Understanding novel language

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dejong, G.F.; Waltz, D.L.

1983-01-01

This paper treats in some detail the problem of designing mechanisms that will allow one to deal with two types of novel language: (1) text requiring scheme learning; and (2) the understanding of novel metaphorical use of verbs. Schema learning is addressed by four types of processes: scheme composition, secondary effect elevation, schema alteration, and volitionalization. The processing of novel metaphors depends on a decompositional analysis of verbs into event shape diagrams, along with a matching process that uses semantic marker-like information, to construct novel meaning structures. The examples described have been chosen to be types that occur commonly, somore » that rules that are needed to understand them can also be used to understand a much wider range of novel language. 38 references.« less

CMLLite: a design philosophy for CML

PubMed Central

2011-01-01

CMLLite is a collection of definitions and processes which provide strong and flexible validation for a document in Chemical Markup Language (CML). It consists of an updated CML schema (schema3), conventions specifying rules in both human and machine-understandable forms and a validator available both online and offline to check conformance. This article explores the rationale behind the changes which have been made to the schema, explains how conventions interact and how they are designed, formulated, implemented and tested, and gives an overview of the validation service. PMID:21999395

A standard MIGS/MIMS compliant XML Schema: toward the development of the Genomic Contextual Data Markup Language (GCDML).

PubMed

Kottmann, Renzo; Gray, Tanya; Murphy, Sean; Kagan, Leonid; Kravitz, Saul; Lombardot, Thierry; Field, Dawn; Glöckner, Frank Oliver

2008-06-01

The Genomic Contextual Data Markup Language (GCDML) is a core project of the Genomic Standards Consortium (GSC) that implements the "Minimum Information about a Genome Sequence" (MIGS) specification and its extension, the "Minimum Information about a Metagenome Sequence" (MIMS). GCDML is an XML Schema for generating MIGS/MIMS compliant reports for data entry, exchange, and storage. When mature, this sample-centric, strongly-typed schema will provide a diverse set of descriptors for describing the exact origin and processing of a biological sample, from sampling to sequencing, and subsequent analysis. Here we describe the need for such a project, outline design principles required to support the project, and make an open call for participation in defining the future content of GCDML. GCDML is freely available, and can be downloaded, along with documentation, from the GSC Web site (http://gensc.org).

Second Language Listening Comprehension: A Schema-Theoretic Perspective.

ERIC Educational Resources Information Center

Long, Donna Reseigh

1989-01-01

Enormous potential exists for the transfer of listening comprehension theory to second language listening research. The need for such research is highlighted through an exploration of recurring themes in the literature on background knowledge and through application of these themes to second language listening comprehension. (CB)

Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood.

PubMed

Chowdhury, Tanvir K; Chowdhury, Md Zonaid; Mili, Fahmida; Hutson, John M; Banu, Tahmina

2014-05-01

In developing countries like Bangladesh, delayed presentation for disorders of sex development (DSD) is common, and provides some special problems for management. There remains significant controversy about appropriate sex assignment in this group. We aimed, therefore, to assess gender identity (GI) in 50 consecutive patients with DSD presenting to a referral centre in Chittagong, Bangladesh, and correlate it with Prader score, to see if the latter could be used to predict GI. A cross-sectional, case-control study of 50 consecutive children with DSD and 50 children with vascular anomalies was conducted in the Pediatric Surgical Clinic, Chittagong Medical College and Hospital. After informed consent, patients and controls provided oral answers to a GI questionnaire and had a detailed history and physical examination. Sex-typed activities were assessed by observations of a structured toy play and the child's selection of a toy to keep. Both patients and parents then completed the Child Game Participation Questionnaire. There were no differences in age (2-16 years, mean 8.74) between controls and DSD patients (11 46, XX DSD, 32 46, XY DSD, 4 MGD, 3 ovo-testicular DSD). Fifteen of the DSD patients (30 %) came from consanguineous marriages and only 2 of the control patients had consanguinity of their parents. For the 13-question GI interview, there was no overall difference between DSD cases and controls. For the 46, XX DSD subgroup, there was a significantly higher score (11.1 ± 7.1) compared with control girls (4.5 ± 4.7) (p < 0.05), while for DSD and control boys, there was a positive correlation with age and GI (p < 0.01). Prader score correlated with GI score in both control (r = 0.91) and DSD patients (r = 0.75) (p < 0.01), DSD girls played significantly less with girls' toys than controls (p < 0.01), but there was no differences for the boys. Composite scores on GI and gender-related behaviour correlated with Prader score for DSD patients (r = 0.61) (p < 0.01). This study supports the view that GI and gender-role behaviour should be assessed routinely in DSD patients presenting after the neonatal period, so that sex assignment is in accordance with behaviour. Prader scores showed a good correlation with GI and gender role behaviour.

Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.

PubMed

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, Rinus

2017-01-01

The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. A total of 416 children (15.1%; CI: 13.8%-16.5%) were diagnosed with DSD. The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n=33), 46 XX DSD in 33% (n=114) and 46 XY DSD in 57.5% (n=199). The most common diagnoses in descending order were a disorder in androgen synthesis and action (not classified) in 53% (n=182), ovotesticular DSD in 22% (n=75) and congenital adrenal hyperplasia (CAH) in 10% (n=36). Overall the median age of presentation was 10 months (IQR: 1 month-4.5 years). There was a significant relationship (p<0.001) between the age of presentation and aetiological diagnosis. The majority (97%) of African patients had a diagnosis of 46 XX DSD. Prematurity was present in 47% (n=83) of children with 46 XY DSD (p<0.001). DSD is not an uncommon diagnosis in African patients in sub-Saharan Africa. The most common aetiological diagnosis is 46 XY DSD in androgen synthesis and action, followed by ovotesticular DSD. CAH is only the third most common disorder.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bdzil, John Bohdan

The full level-set function code, DSD3D, is fully described in LA-14336 (2007) [1]. This ASCI-supported, DSD code project was the last such LANL DSD code project that I was involved with before my retirement in 2007. My part in the project was to design and build the core DSD3D solver, which was to include a robust DSD boundary condition treatment. A robust boundary condition treatment was required, since for an important local “customer,” the only description of the explosives’ boundary was through volume fraction data. Given this requirement, the accuracy issues I had encountered with our “fast-tube,” narrowband, DSD2D solver,more » and the difficulty we had building an efficient MPI-parallel version of the narrowband DSD2D, I decided DSD3D should be built as a full level-set function code, using a totally local DSD boundary condition algorithm for the level-­set function, phi, which did not rely on the gradient of the level-­set function being one, |grad(phi)| = 1. The narrowband DSD2D solver was built on the assumption that |grad(phi)| could be driven to one, and near the boundaries of the explosive this condition was not being satisfied. Since the narrowband is typically no more than10*dx wide, narrowband methods are discrete methods with a fixed, non-­resolvable error, where the error is related to the thickness of the band: the narrower the band the larger the errors. Such a solution represents a discrete approximation to the true solution and does not limit to the solution of the underlying PDEs under grid resolution.The full level-­set function code, DSD3D, is fully described in LA-14336 (2007) [1]. This ASCI-­supported, DSD code project was the last such LANL DSD code project that I was involved with before my retirement in 2007. My part in the project was to design and build the core DSD3D solver, which was to include a robust DSD boundary condition treatment. A robust boundary condition treatment was required, since for an important local “customer,” the only description of the explosives’ boundary was through volume fraction data. Given this requirement, the accuracy issues I had encountered with our “fast-­tube,” narrowband, DSD2D solver, and the difficulty we had building an efficient MPI-parallel version of the narrowband DSD2D, I decided DSD3D should be built as a full level-­set function code, using a totally local DSD boundary condition algorithm for the level-­set function, phi, which did not rely on the gradient of the level-­set function being one, |grad(phi)| = 1. The narrowband DSD2D solver was built on the assumption that |grad(phi)| could be driven to one, and near the boundaries of the explosive this condition was not being satisfied. Since the narrowband is typically no more than10*dx wide, narrowband methods are discrete methods with a fixed, non-resolvable error, where the error is related to the thickness of the band: the narrower the band the larger the errors. Such a solution represents a discrete approximation to the true solution and does not limit to the solution of the underlying PDEs under grid resolution.« less

A Role Calculus for ORM

NASA Astrophysics Data System (ADS)

Curland, Matthew; Halpin, Terry; Stirewalt, Kurt

A conceptual schema of an information system specifies the fact structures of interest as well as related business rules that are either constraints or derivation rules. Constraints restrict the possible or permitted states or state transitions, while derivation rules enable some facts to be derived from others. Graphical languages are commonly used to specify conceptual schemas, but often need to be supplemented by more expressive textual languages to capture additional business rules, as well as conceptual queries that enable conceptual models to be queried directly. This paper describes research to provide a role calculus to underpin textual languages for Object-Role Modeling (ORM), to enable business rules and queries to be formulated in a language intelligible to business users. The role-based nature of this calculus, which exploits the attribute-free nature of ORM, appears to offer significant advantages over other proposed approaches, especially in the area of semantic stability.

Narrative Development among Language-Minority Children: The Role of Bilingual versus Monolingual Preschool Education

ERIC Educational Resources Information Center

Schwartz, Mila; Shaul, Yehudit

2013-01-01

The development of script schema, as a source of narrative knowledge, is an essential stage in this knowledge construction. This study focused on the role of bilingual versus monolingual preschool education in the development of script schema knowledge in Russian (L1) and Hebrew (L2) among Russian/Hebrew-speaking children in Israel. The preschool…

Disorders of Sex Development (DSD): Networking and Standardization Considerations.

PubMed

Sandberg, D E; Callens, N; Wisniewski, A B

2015-05-01

Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed. © Georg Thieme Verlag KG Stuttgart · New York.

Nonverbal behavior in soccer: the influence of dominant and submissive body language on the impression formation and expectancy of success of soccer players.

PubMed

Furley, Philip; Dicks, Matt; Memmert, Daniel

2012-02-01

In the present article, we investigate the effects of specific nonverbal behaviors signaling dominance and submissiveness on impression formation and outcome expectation in the soccer penalty kick situation. In Experiment 1, results indicated that penalty takers with dominant body language are perceived more positively by soccer goalkeepers and players and are expected to perform better than players with a submissive body language. This effect was similar for both video and point-light displays. Moreover, in contrast to previous studies, we found no effect of clothing (red vs. white) in the video condition. In Experiment 2, we used the implicit association test to demonstrate that dominant body language is implicitly associated with a positive soccer player schema whereas submissive body language is implicitly associated with a negative soccer player schema. The implications of our findings are discussed with reference to future implications for theory and research in the study of person perception in sport.

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

PubMed

Cassia Amaral, Rita; Inacio, Marlene; Brito, Vinicius N; Bachega, Tania A S S; Oliveira, Ari A; Domenice, Sorahia; Denes, Francisco T; Sircili, Maria Helena; Arnhold, Ivo J P; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine M F; Mendonca, Berenice B

2015-02-01

Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD). Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre. Adult patients with DSD (56 patients with 46,XX DSD - 49 with female social sex and 7 with male social sex as well as 88 patients with 46,XY DSD - 54 with female social sex and 34 with male social sex). QoL using WHOQOL-Bref questionnaire. Both patients with 46,XX DSD and patients with 46,XY DSD had similar QoL scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. The chronological age at the start of treatment was negatively and significantly associated with general QoL score. Patients with male social sex DSD had better scores on the psychological domain than patients with female social sex DSD, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better QoL compared with the female social sex patients. There was a positive and significant correlation between sexual performance and general QoL, although it explained only 4% of the variability of the general QoL score. The most influencing variables were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general QoL score. Our large cohort of adult patients with DSD, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of patients with DSD, whereas sexual performance has little influence on QoL. © 2014 John Wiley & Sons Ltd.

Some Aspects of Developing Background Knowledge in Second Language Acquisition Revisited

ERIC Educational Resources Information Center

Zashchitina, Galina; Moysyak, Natalia

2017-01-01

The article focuses on defining how background knowledge impacts on second-language acquisition by giving a brief overview of schema theory, the interaction of the basic modes of information processing. A challenge of dealing with culturally specific texts in second language acquisition is also touched upon. Different research-supported views on…

Bridging Ground Validation and Algorithms: Using Scattering and Integral Tables to Incorporate Observed DSD Correlations into Satellite Algorithms

NASA Astrophysics Data System (ADS)

Williams, C. R.

2012-12-01

The NASA Global Precipitation Mission (GPM) raindrop size distribution (DSD) Working Group is composed of NASA PMM Science Team Members and is charged to "investigate the correlations between DSD parameters using Ground Validation (GV) data sets that support, or guide, the assumptions used in satellite retrieval algorithms." Correlations between DSD parameters can be used to constrain the unknowns and reduce the degrees-of-freedom in under-constrained satellite algorithms. Over the past two years, the GPM DSD Working Group has analyzed GV data and has found correlations between the mass-weighted mean raindrop diameter (Dm) and the mass distribution standard deviation (Sm) that follows a power-law relationship. This Dm-Sm power-law relationship appears to be robust and has been observed in surface disdrometer and vertically pointing radar observations. One benefit of a Dm-Sm power-law relationship is that a three parameter DSD can be modeled with just two parameters: Dm and Nw that determines the DSD amplitude. In order to incorporate observed DSD correlations into satellite algorithms, the GPM DSD Working Group is developing scattering and integral tables that can be used by satellite algorithms. Scattering tables describe the interaction of electromagnetic waves on individual particles to generate cross sections of backscattering, extinction, and scattering. Scattering tables are independent of the distribution of particles. Integral tables combine scattering table outputs with DSD parameters and DSD correlations to generate integrated normalized reflectivity, attenuation, scattering, emission, and asymmetry coefficients. Integral tables contain both frequency dependent scattering properties and cloud microphysics. The GPM DSD Working Group has developed scattering tables for raindrops at both Dual Precipitation Radar (DPR) frequencies and at all GMI radiometer frequencies less than 100 GHz. Scattering tables include Mie and T-matrix scattering with H- and V-polarization at the instrument view angles of nadir to 17 degrees (for DPR) and 48 & 53 degrees off nadir (for GMI). The GPM DSD Working Group is generating integral tables with GV observed DSD correlations and is performing sensitivity and verification tests. One advantage of keeping scattering tables separate from integral tables is that research can progress on the electromagnetic scattering of particles independent of cloud microphysics research. Another advantage of keeping the tables separate is that multiple scattering tables will be needed for frozen precipitation. Scattering tables are being developed for individual frozen particles based on habit, density and operating frequency. And a third advantage of keeping scattering and integral tables separate is that this framework provides an opportunity to communicate GV findings about DSD correlations into integral tables, and thus, into satellite algorithms.

An XML-based interchange format for genotype-phenotype data.

PubMed

Whirl-Carrillo, M; Woon, M; Thorn, C F; Klein, T E; Altman, R B

2008-02-01

Recent advances in high-throughput genotyping and phenotyping have accelerated the creation of pharmacogenomic data. Consequently, the community requires standard formats to exchange large amounts of diverse information. To facilitate the transfer of pharmacogenomics data between databases and analysis packages, we have created a standard XML (eXtensible Markup Language) schema that describes both genotype and phenotype data as well as associated metadata. The schema accommodates information regarding genes, drugs, diseases, experimental methods, genomic/RNA/protein sequences, subjects, subject groups, and literature. The Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB; www.pharmgkb.org) has used this XML schema for more than 5 years to accept and process submissions containing more than 1,814,139 SNPs on 20,797 subjects using 8,975 assays. Although developed in the context of pharmacogenomics, the schema is of general utility for exchange of genotype and phenotype data. We have written syntactic and semantic validators to check documents using this format. The schema and code for validation is available to the community at http://www.pharmgkb.org/schema/index.html (last accessed: 8 October 2007). (c) 2007 Wiley-Liss, Inc.

WHO Dengue Case Classification 2009 and its usefulness in practice: an expert consensus in the Americas

PubMed Central

Horstick, Olaf; Martinez, Eric; Guzman, Maria Guadalupe; Martin, Jose Luis San; Ranzinger, Silvia Runge

2015-01-01

Introduction: In 2009, the new World Health Organization (WHO) dengue case classification – dengue/severe dengue (D/SD) – was introduced, replacing the 1997 WHO dengue case classification: dengue fever/dengue haemorrhagic fever/dengue shock syndrome (DF/DHF/DSS). Methods: A 2-day expert consensus meeting in La Habana/Cuba aimed to (1) share the experiences from Pan American Health Organization (PAHO) member states when applying D/SD, (2) present national and local data using D/SD, and (3) agree with the presented evidence on a list of recommendations for or against the use of D/SD for PAHO, and also globally. Results: Eight key questions were discussed, concluding: (1) D/SD is useful describing disease progression because it considers the dynamic nature of the disease, (2) D/SD helps defining dengue cases correctly for clinical studies, because it defines more precisely disease severity and allows evaluating dynamically the progression of cases, (3) D/SD describes correctly all clinical forms of severe dengue. Further standards need to be developed regionally, especially related to severe organ involvement, (4) D/SD allows for pathophysiological research identifying – in a sequential manner – the clinical manifestations of dengue related to pathophysiological events, (5) the warning signs help identifying early cases at risk of shock (children and adults), pathophysiology of the warning signs deserves further studies, (6) D/SD helps treating individual dengue cases and also the reorganization of health-care services for outbreak management, (7) D/SD helps diagnosing dengue, in presumptive diagnosis and follow-up of the disease, because of its high sensitivity and high negative predictive value (NPV), and (8) there is currently no update of the International Disease Classification10 (ICD10) to include the new classification of dengue (D/SD); therefore, there are not enough experiences of epidemiological reporting. Once D/SD has been implemented in epidemiological surveillance, D/SD allows to (1) identify severity of dengue cases in real time, for any decision-making on actions, (2) measure and compare morbidity and mortality in countries, and also globally, and (3) trigger contingency plans early, not only based on the number of reported cases but also on the reported severity of cases. Conclusion: The expert panel recommends to (1) update ICD10, (2) include D/SD in country epidemiological reports, and (3) implement studies improving sensitivity/specificity of the dengue case definition. PMID:25630344

Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study

PubMed Central

Ercan, Oya; Kutlug, Seyhan; Uysal, Omer; Alikasifoglu, Mujgan; Inceoglu, Derya

2013-01-01

Gender identity and gender role are expected to be consistent with gender assignment for optimal DSD management outcome. To our knowledge, our study is the first to attempt evaluation of gender related outcomes in Turkish DSD patients. After receiving institutional ethical board approval and subject (or parent) informed consent, subjects with DSD raised as girls (22 patients 46 XX DSD, 11 patients 46 XY DSD) answered 566 questions of the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire including 60-item Masculinity-Femininity (MF) subscale which was the focus in this study. Controls (n: 50) were females similar to the probands in age, level of education, relationship status, and having a job or not also answered all questions. The answers were evaluated by a trained psychologist (Derya Inceoglu) on MMPI. For statistical purposes, seven findings were obtained from the data related to the MF subscale from the patients and controls. Of these seven findings (S1–S7), two were associated with masculinity (S3–S4) and another two were associated with femininity (S5–S6). In DSD patients, the percentages of masculinity findings were significantly higher when compared to controls (p < 0.001 and p < 0.001 for S3 and S4, respectively). In controls, the percentages of femininity findings were significantly higher when compared to DSD females (p < 0.001 and p < 0.001 for S5 and S6 respectively). There was no significant difference between 46 XX DSD patients and 46 XY DSD patients with respect to the percentage of any of the seven findings. Two patients requested gender change to male; only these two patients had the finding stating that sexual impulses could come to existence as actions (S7). In conclusion efforts to identify modifiable factors with negative impact and thus modifying them, and professional guidance may be important in minimizing the encountered gender related problems in DSD patients. PMID:23874323

Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study.

PubMed

Ercan, Oya; Kutlug, Seyhan; Uysal, Omer; Alikasifoglu, Mujgan; Inceoglu, Derya

2013-01-01

Gender identity and gender role are expected to be consistent with gender assignment for optimal DSD management outcome. To our knowledge, our study is the first to attempt evaluation of gender related outcomes in Turkish DSD patients. After receiving institutional ethical board approval and subject (or parent) informed consent, subjects with DSD raised as girls (22 patients 46 XX DSD, 11 patients 46 XY DSD) answered 566 questions of the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire including 60-item Masculinity-Femininity (MF) subscale which was the focus in this study. Controls (n: 50) were females similar to the probands in age, level of education, relationship status, and having a job or not also answered all questions. The answers were evaluated by a trained psychologist (Derya Inceoglu) on MMPI. For statistical purposes, seven findings were obtained from the data related to the MF subscale from the patients and controls. Of these seven findings (S1-S7), two were associated with masculinity (S3-S4) and another two were associated with femininity (S5-S6). In DSD patients, the percentages of masculinity findings were significantly higher when compared to controls (p < 0.001 and p < 0.001 for S3 and S4, respectively). In controls, the percentages of femininity findings were significantly higher when compared to DSD females (p < 0.001 and p < 0.001 for S5 and S6 respectively). There was no significant difference between 46 XX DSD patients and 46 XY DSD patients with respect to the percentage of any of the seven findings. Two patients requested gender change to male; only these two patients had the finding stating that sexual impulses could come to existence as actions (S7). In conclusion efforts to identify modifiable factors with negative impact and thus modifying them, and professional guidance may be important in minimizing the encountered gender related problems in DSD patients.

The Escherichia coli argW-dsdCXA genetic island is highly variable, and E. coli K1 strains commonly possess two copies of dsdCXA.

PubMed

Moritz, Rebecca L; Welch, Rodney A

2006-11-01

The genome sequences of Escherichia coli pathotypes reveal extensive genetic variability in the argW-dsdCXA island. Interestingly, the archetype E. coli K1 neonatal meningitis strain, strain RS218, has two copies of the dsdCXA genes for d-serine utilization at the argW and leuX islands. Because the human brain contains d-serine, an epidemiological study emphasizing K1 isolates surveyed the dsdCXA copy number and function. Forty of 41 (97.5%) independent E. coli K1 isolates could utilize d-serine. Southern blot hybridization revealed physical variability within the argW-dsdC region, even among 22 E. coli O18:K1:H7 isolates. In addition, 30 of 41 K1 strains, including 21 of 22 O18:K1:H7 isolates, had two dsdCXA loci. Mutational analysis indicated that each of the dsdA genes is functional in a rifampin-resistant mutant of RS218, mutant E44. The high percentage of K1 strains that can use d-serine is in striking contrast to our previous observation that only 4 of 74 (5%) isolates in the diarrheagenic E. coli (DEC) collection have this activity. The genome sequence of diarrheagenic E. coli isolates indicates that the csrRAKB genes for sucrose utilization are often substituted for dsdC and a portion of dsdX present at the argW-dsdCXA island of extraintestinal isolates. Among DEC isolates there is a reciprocal pattern of sucrose fermentation versus d-serine utilization. The ability to use d-serine is a trait strongly selected for among E. coli K1 strains, which have the ability to infect a wide range of extraintestinal sites. Conversely, diarrheagenic E. coli pathotypes appear to have substituted sucrose for d-serine as a potential nutrient.

D-Serine Metabolism and Its Importance in Development of Dictyostelium discoideum

PubMed Central

Ito, Tomokazu; Hamauchi, Natsuki; Hagi, Taisuke; Morohashi, Naoya; Hemmi, Hisashi; Sato, Yukie G.; Saito, Tamao; Yoshimura, Tohru

2018-01-01

In mammals, D-Ser is synthesized by serine racemase (SR) and degraded by D-amino acid oxidase (DAO). D-Ser acts as an endogenous ligand for N-methyl-D-aspartate (NMDA)- and δ2 glutamate receptors, and is involved in brain functions such as learning and memory. Although SR homologs are highly conserved in eukaryotes, little is known about the significance of D-Ser in non-mammals. In contrast to mammals, the slime mold Dictyostelium discoideum genome encodes SR, DAO, and additionally D-Ser specific degradation enzyme D-Ser dehydratase (DSD), but not NMDA- and δ2 glutamate receptors. Here, we studied the significances of D-Ser and DSD in D. discoideum. Enzymatic assays demonstrated that DSD is 460- and 1,700-fold more active than DAO and SR, respectively, in degrading D-Ser. Moreover, in dsd-null cells D-Ser degradation activity is completely abolished. In fact, while in wild-type D. discoideum intracellular D-Ser levels were considerably low, dsd-null cells accumulated D-Ser. These results indicated that DSD but not DAO is the primary enzyme responsible for D-Ser decomposition in D. discoideum. We found that dsd-null cells exhibit delay in development and arrest at the early culmination stage. The efficiency of spore formation was considerably reduced in the mutant cells. These phenotypes were further pronounced by exogenous D-Ser but rescued by plasmid-borne expression of dsd. qRT-PCR analysis demonstrated that mRNA expression of key genes in the cAMP signaling relay is perturbed in the dsd knockout. Our data indicate novel roles for D-Ser and/or DSD in the regulation of cAMP signaling in the development processes of D. discoideum. PMID:29740415

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

PubMed

Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

2015-02-01

The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

PubMed

Pyle, Louise C; Nathanson, Katherine L

2017-06-01

Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD. We discuss germ cell development and etiology of GCT growth, along with parameters to consider when recommending prophylactic gonadectomy including fertility, hormonal output, and malignant GTC treatment outcomes. Shortly after the 2006 reorganization of DSD nomenclature, literature reviews of natural history publications stratified GCT risk by a chromosomal, pathological, and hormonal taxonomy. Our 2017 literature review reveals a larger body of publications. However, the broad DSD GCT risk stratification within the 2006 taxonomy remains stable. We discuss precise GCT risk assessment for specific diagnoses, including androgen insensitivity, Smith-Lemli-Opitz, and 46,XY with MAP3K1 mutations and gonadal dysgenesis, as examples. We also examine the GCT risk in non-DSD syndromes, in addition to the cancer risks in DSD patients with dimorphic gonads and genitalia. This review is intended to provide a nuanced assessment of relative germ cell tumor risk in the DSD patient, including modern precise molecular diagnosis, for use by the clinical geneticist. © 2017 Wiley Periodicals, Inc.

Development of the Plate Tectonics and Seismology markup languages with XML

NASA Astrophysics Data System (ADS)

Babaie, H.; Babaei, A.

2003-04-01

The Extensible Markup Language (XML) and its specifications such as the XSD Schema, allow geologists to design discipline-specific vocabularies such as Seismology Markup Language (SeismML) or Plate Tectonics Markup Language (TectML). These languages make it possible to store and interchange structured geological information over the Web. Development of a geological markup language requires mapping geological concepts, such as "Earthquake" or "Plate" into a UML object model, applying a modeling and design environment. We have selected four inter-related geological concepts: earthquake, fault, plate, and orogeny, and developed four XML Schema Definitions (XSD), that define the relationships, cardinalities, hierarchies, and semantics of these concepts. In such a geological concept model, the UML object "Earthquake" is related to one or more "Wave" objects, each arriving to a seismic station at a specific "DateTime", and relating to a specific "Epicenter" object that lies at a unique "Location". The "Earthquake" object occurs along a "Segment" of a "Fault" object, which is related to a specific "Plate" object. The "Fault" has its own associations with such things as "Bend", "Step", and "Segment", and could be of any kind (e.g., "Thrust", "Transform'). The "Plate" is related to many other objects such as "MOR", "Subduction", and "Forearc", and is associated with an "Orogeny" object that relates to "Deformation" and "Strain" and several other objects. These UML objects were mapped into XML Metadata Interchange (XMI) formats, which were then converted into four XSD Schemas. The schemas were used to create and validate the XML instance documents, and to create a relational database hosting the plate tectonics and seismological data in the Microsoft Access format. The SeismML and TectML allow seismologists and structural geologists, among others, to submit and retrieve structured geological data on the Internet. A seismologist, for example, can submit peer-reviewed and reliable data about a specific earthquake to a Java Server Page on our web site hosting the XML application. Other geologists can readily retrieve the submitted data, saved in files or special tables of the designed database, through a search engine designed with J2EE (JSP, servlet, Java Bean) and XML specifications such as XPath, XPointer, and XSLT. When extended to include all the important concepts of seismology and plate tectonics, the two markup languages will make global interchange of geological data a reality.

XML Style Guide

DTIC Science & Technology

2015-07-01

Acronyms ASCII American Standard Code for Information Interchange DAU data acquisition unit DDML data display markup language IHAL...Transfer Standard URI uniform resource identifier W3C World Wide Web Consortium XML extensible markup language XSD XML schema definition XML Style...Style Guide, RCC 125-15, July 2015 1 Introduction The next generation of telemetry systems will rely heavily on extensible markup language (XML

Discrete mathematics, formal methods, the Z schema and the software life cycle

NASA Technical Reports Server (NTRS)

Bown, Rodney L.

1991-01-01

The proper role and scope for the use of discrete mathematics and formal methods in support of engineering the security and integrity of components within deployed computer systems are discussed. It is proposed that the Z schema can be used as the specification language to capture the precise definition of system and component interfaces. This can be accomplished with an object oriented development paradigm.

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

PubMed

Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu

2015-08-01

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region. © 2015 Wiley Periodicals, Inc.

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

PubMed Central

Wisniewski, Amy B.

2012-01-01

Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed. PMID:24278745

Semantic and phonological schema influence spoken word learning and overnight consolidation.

PubMed

Havas, Viktória; Taylor, Jsh; Vaquero, Lucía; de Diego-Balaguer, Ruth; Rodríguez-Fornells, Antoni; Davis, Matthew H

2018-06-01

We studied the initial acquisition and overnight consolidation of new spoken words that resemble words in the native language (L1) or in an unfamiliar, non-native language (L2). Spanish-speaking participants learned the spoken forms of novel words in their native language (Spanish) or in a different language (Hungarian), which were paired with pictures of familiar or unfamiliar objects, or no picture. We thereby assessed, in a factorial way, the impact of existing knowledge (schema) on word learning by manipulating both semantic (familiar vs unfamiliar objects) and phonological (L1- vs L2-like novel words) familiarity. Participants were trained and tested with a 12-hr intervening period that included overnight sleep or daytime awake. Our results showed (1) benefits of sleep to recognition memory that were greater for words with L2-like phonology and (2) that learned associations with familiar but not unfamiliar pictures enhanced recognition memory for novel words. Implications for complementary systems accounts of word learning are discussed.

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

PubMed

Seeherunvong, Tossaporn; Ukarapong, Supamit; McElreavey, Kenneth; Berkovitz, Gary D; Perera, Erasmo M

2012-01-01

Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals. We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications. Duplication of the SOX9 region in 17q was not detected in any subject. Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.

A Framework for the Generation and Dissemination of Drop Size Distribution (DSD) Characteristics Using Multiple Platforms

NASA Technical Reports Server (NTRS)

Wolf, David B.; Tokay, Ali; Petersen, Walt; Williams, Christopher; Gatlin, Patrick; Wingo, Mathew

2010-01-01

Proper characterization of the precipitation drop size distribution (DSD) is integral to providing realistic and accurate space- and ground-based precipitation retrievals. Current technology allows for the development of DSD products from a variety of platforms, including disdrometers, vertical profilers and dual-polarization radars. Up to now, however, the dissemination or availability of such products has been limited to individual sites and/or field campaigns, in a variety of formats, often using inconsistent algorithms for computing the integral DSD parameters, such as the median- and mass-weighted drop diameter, total number concentration, liquid water content, rain rate, etc. We propose to develop a framework for the generation and dissemination of DSD characteristic products using a unified structure, capable of handling the myriad collection of disdrometers, profilers, and dual-polarization radar data currently available and to be collected during several upcoming GPM Ground Validation field campaigns. This DSD super-structure paradigm is an adaptation of the radar super-structure developed for NASA s Radar Software Library (RSL) and RSL_in_IDL. The goal is to provide the DSD products in a well-documented format, most likely NetCDF, along with tools to ingest and analyze the products. In so doing, we can develop a robust archive of DSD products from multiple sites and platforms, which should greatly benefit the development and validation of precipitation retrieval algorithms for GPM and other precipitation missions. An outline of this proposed framework will be provided as well as a discussion of the algorithms used to calculate the DSD parameters.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

PubMed

Juniarto, A Zulfa; van der Zwan, Yvonne G; Santosa, Ardy; Ariani, Mahayu Dewi; Eggers, Stefanie; Hersmus, Remko; Themmen, Axel P N; Bruggenwirth, Hennie T; Wolffenbuttel, Katja P; Sinclair, Andrew; White, Stefan J; Looijenga, Leendert H J; de Jong, Frank H; Faradz, Sultana M H; Drop, Stenvert L S

2016-08-01

The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients. © 2016 John Wiley & Sons Ltd.

The Role of Ontologies in Schema-based Program Synthesis

NASA Technical Reports Server (NTRS)

Bures, Tomas; Denney, Ewen; Fischer, Bernd; Nistor, Eugen C.

2004-01-01

Program synthesis is the process of automatically deriving executable code from (non-executable) high-level specifications. It is more flexible and powerful than conventional code generation techniques that simply translate algorithmic specifications into lower-level code or only create code skeletons from structural specifications (such as UML class diagrams). Key to building a successful synthesis system is specializing to an appropriate application domain. The AUTOBAYES and AUTOFILTER systems, under development at NASA Ames, operate in the two domains of data analysis and state estimation, respectively. The central concept of both systems is the schema, a representation of reusable computational knowledge. This can take various forms, including high-level algorithm templates, code optimizations, datatype refinements, or architectural information. A schema also contains applicability conditions that are used to determine when it can be applied safely. These conditions can refer to the initial specification, to intermediate results, or to elements of the partially-instantiated code. Schema-based synthesis uses AI technology to recursively apply schemas to gradually refine a specification into executable code. This process proceeds in two main phases. A front-end gradually transforms the problem specification into a program represented in an abstract intermediate code. A backend then compiles this further down into a concrete target programming language of choice. A core engine applies schemas on the initial problem specification, then uses the output of those schemas as the input for other schemas, until the full implementation is generated. Since there might be different schemas that implement different solutions to the same problem this process can generate an entire solution tree. AUTOBAYES and AUTOFILTER have reached the level of maturity where they enable users to solve interesting application problems, e.g., the analysis of Hubble Space Telescope images. They are large (in total around 100kLoC Prolog), knowledge intensive systems that employ complex symbolic reasoning to generate a wide range of non-trivial programs for complex application do- mains. Their schemas can have complex interactions, which make it hard to change them in isolation or even understand what an existing schema actually does. Adding more capabilities by increasing the number of schemas will only worsen this situation, ultimately leading to the entropy death of the synthesis system. The root came of this problem is that the domain knowledge is scattered throughout the entire system and only represented implicitly in the schema implementations. In our current work, we are addressing this problem by making explicit the knowledge from Merent parts of the synthesis system. Here; we discuss how Gruber's definition of an ontology as an explicit specification of a conceptualization matches our efforts in identifying and explicating the domain-specific concepts. We outline the dual role ontologies play in schema-based synthesis and argue that they address different audiences and serve different purposes. Their first role is descriptive: they serve as explicit documentation, and help to understand the internal structure of the system. Their second role is prescriptive: they provide the formal basis against which the other parts of the system (e.g., schemas) can be checked. Their final role is referential: ontologies also provide semantically meaningful "hooks" which allow schemas and tools to access the internal state of the program derivation process (e.g., fragments of the generated code) in domain-specific rather than language-specific terms, and thus to modify it in a controlled fashion. For discussion purposes we use AUTOLINEAR, a small synthesis system we are currently experimenting with, which can generate code for solving a system of linear equations, Az = b.

Object schemas for grounding language in a responsive robot

NASA Astrophysics Data System (ADS)

Hsiao, Kai-Yuh; Tellex, Stefanie; Vosoughi, Soroush; Kubat, Rony; Roy, Deb

2008-12-01

An approach is introduced for physically grounded natural language interpretation by robots that reacts appropriately to unanticipated physical changes in the environment and dynamically assimilates new information pertinent to ongoing tasks. At the core of the approach is a model of object schemas that enables a robot to encode beliefs about physical objects in its environment using collections of coupled processes responsible for sensorimotor interaction. These interaction processes run concurrently in order to ensure responsiveness to the environment, while co-ordinating sensorimotor expectations, action planning and language use. The model has been implemented on a robot that manipulates objects on a tabletop in response to verbal input. The implementation responds to verbal requests such as 'Group the green block and the red apple', while adapting in real time to unexpected physical collisions and taking opportunistic advantage of any new information it may receive through perceptual and linguistic channels.

Verb Schema Use and Input Dependence in 5-Year-Old Children with Specific Language Impairment (SLI)

ERIC Educational Resources Information Center

Riches, N. G.; Faragher, B.; Conti-Ramsden, G.

2006-01-01

It has been argued that children with Specific Language Impairment (SLI) use language in a conservative manner. For example, they are reluctant to produce word-plus-frame combinations that they have not heard in the input. In addition, there is evidence to suggest that their utterances replicate lexical and syntactic material from the immediate…

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

PubMed Central

Lux, Anke; Kropf, Siegfried; Kleinemeier, Eva; Jürgensen, Martina; Thyen, Ute

2009-01-01

Background The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features. Methods and design The multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated. Discussion The clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies. PMID:19383134

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

PubMed

Mouriquand, Pierre D E; Gorduza, Daniela Brindusa; Gay, Claire-Lise; Meyer-Bahlburg, Heino F L; Baker, Linda; Baskin, Laurence S; Bouvattier, Claire; Braga, Luis H; Caldamone, Anthony C; Duranteau, Lise; El Ghoneimi, Alaa; Hensle, Terry W; Hoebeke, Piet; Kaefer, Martin; Kalfa, Nicolas; Kolon, Thomas F; Manzoni, Gianantonio; Mure, Pierre-Yves; Nordenskjöld, Agneta; Pippi Salle, J L; Poppas, Dix Phillip; Ransley, Philip G; Rink, Richard C; Rodrigo, Romao; Sann, Léon; Schober, Justine; Sibai, Hisham; Wisniewski, Amy; Wolffenbuttel, Katja P; Lee, Peter

2016-06-01

Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

CHALLENGES OF DSD: DIVERSE PERCEPTIONS ACROSS STAKEHOLDERS

PubMed Central

Kogan, Barry A.; Gardner, Melissa; Alpern, Adrianne N.; Cohen, Laura M.; Grimley, Mary Beth; Quittner, Alexandra L.; Sandberg, David E.

2012-01-01

Background/Aims Disorders of Sex Development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. Methods Content from focus groups with expert clinicians (pediatric urologists [n=7], pediatric endocrinologists [n=10], mental health professionals [n=4]), DSD patient advocates (n=4), and interviews with parents of DSD-affected children (newborn to 6 yrs; n=11) was coded and content-analyzed to identify health-related quality of life issues. Results Key stressors varied across stakeholder groups. In general, family-centered issues were noted more than child-centered. In the child-centered domain, providers worried more about physical functioning; family and advocates emphasized gender concerns and body image. In the family-centered domain, parental concerns about medication management outweighed those of providers. Advocates reported more stressors regarding communication/information than other stakeholders. Conclusion Variability exists across stakeholder groups in the key concerns affecting young children/families with DSD. Interdisciplinary DSD healthcare team development should account for varying perspectives when counseling families and planning treatment. PMID:22832323

Even Math Requires Learning Academic Language

ERIC Educational Resources Information Center

Barrow, Melissa A.

2014-01-01

ELLs need to practice using the language in their speech. Teachers can ask students to restate the definition in their own words and provide opportunities for students to use academic vocabulary in discussions. Chunking (instead of teaching inch in isolation, also teach foot, centimeter, and yard) helps students develop their schema and mentally…

Language, Perception, and the Schematic Representation of Spatial Relations

ERIC Educational Resources Information Center

Amorapanth, Prin; Kranjec, Alexander; Bromberger, Bianca; Lehet, Matthew; Widick, Page; Woods, Adam J.; Kimberg, Daniel Y.; Chatterjee, Anjan

2012-01-01

Schemas are abstract nonverbal representations that parsimoniously depict spatial relations. Despite their ubiquitous use in maps and diagrams, little is known about their neural instantiation. We sought to determine the extent to which schematic representations are neurally distinguished from language on the one hand, and from rich perceptual…

Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India.

PubMed

Joseph, Angela Ann; Kulshreshtha, Bindu; Shabir, Iram; Marumudi, Eunice; George, Tony Sam; Sagar, Rajesh; Mehta, Manju; Ammini, Ariachery C

2017-02-01

Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD). Both the children with DSD and their parents underwent semistructured interviews by a clinical psychologist. The birth of a child with DSD was perceived as a major medical and social problem by parents from all socioeconomic strata. Mothers were distressed as many believed the DSD condition was transmitted through the mother. Children who were not diagnosed and treated during infancy or early childhood experienced considerable social discrimination not only from relatives and friends but also from medical and paramedical staff in hospitals. Several patients had been operated during infancy without an etiological diagnosis and without provision of adequate information to the parents. Some children had problems related to complications of surgery. Most teenage patients with 5α-reductase-2 deficiency reared as females presented with gender dysphoria, while children with androgen insensitivity (except for one) or with gonadal dysgenesis developed a gender identity concordant with their gender of rearing. Parents of children with DSD preferred a male gender assignment for their children (if that was possible) because of the social advantages of growing up male in a patriarchal society.

Sharing Epigraphic Information as Linked Data

NASA Astrophysics Data System (ADS)

Álvarez, Fernando-Luis; García-Barriocanal, Elena; Gómez-Pantoja, Joaquín-L.

The diffusion of epigraphic data has evolved in the last years from printed catalogues to indexed digital databases shared through the Web. Recently, the open EpiDoc specifications have resulted in an XML-based schema for the interchange of ancient texts that uses XSLT to render typographic representations. However, these schemas and representation systems are still not providing a way to encode computational semantics and semantic relations between pieces of epigraphic data. This paper sketches an approach to bring these semantics into an EpiDoc based schema using the Ontology Web Language (OWL) and following the principles and methods of information sharing known as "linked data". The paper describes the general principles of the OWL mapping of the EpiDoc schema and how epigraphic data can be shared in RDF format via dereferenceable URIs that can be used to build advanced search, visualization and analysis systems.

Psychosocial Implications of DSD Treatment for Parents

PubMed Central

Wisniewski, Amy B.

2017-01-01

Purpose of the review Historically, studies of caregivers of children with DSD have been limited. Recent findings Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression and decreased quality of life (QoL) in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable. These emotions and behaviors exhibited by parents are concerning as they may limit an affected child’s emotional and social development over time. Perhaps more unique to the situation of DSD is the perceived, or real, child-focused stigma experienced by parents of children with DSD. Summary Interventions to improve parents’ psychosocial adaptation to their child’s medical condition, including coaching in how to discuss their child’s condition in a manner that makes them feel safe and supported, are needed to optimize outcomes for families. PMID:27584026

Theoretical investigation of mixing in warm clouds – Part 2: Homogeneous mixing

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

Evolution of monodisperse and polydisperse droplet size distributions (DSD) during homogeneous mixing is analyzed. Time-dependent universal analytical expressions for supersaturation and liquid water content are derived. For an initial monodisperse DSD, these quantities are shown to depend on a sole non-dimensional parameter. The evolution of moments and moment-related functions in the course of homogeneous evaporation of polydisperse DSD is analyzed using a parcel model. It is shown that the classic conceptual scheme, according to which homogeneous mixing leads to a decrease in droplet mass at constant droplet concentration, is valid only in cases of monodisperse or initially very narrow polydispersemore » DSD. In cases of wide polydisperse DSD, mixing and successive evaporation lead to a decrease of both mass and concentration, so the characteristic droplet sizes remain nearly constant. As this feature is typically associated with inhomogeneous mixing, we conclude that in cases of an initially wide DSD at cloud top, homogeneous mixing is nearly indistinguishable from inhomogeneous mixing.« less

Theoretical investigation of mixing in warm clouds – Part 2: Homogeneous mixing

DOE PAGES

Pinsky, Mark; Khain, Alexander; Korolev, Alexei; ...

2016-07-28

Evolution of monodisperse and polydisperse droplet size distributions (DSD) during homogeneous mixing is analyzed. Time-dependent universal analytical expressions for supersaturation and liquid water content are derived. For an initial monodisperse DSD, these quantities are shown to depend on a sole non-dimensional parameter. The evolution of moments and moment-related functions in the course of homogeneous evaporation of polydisperse DSD is analyzed using a parcel model. It is shown that the classic conceptual scheme, according to which homogeneous mixing leads to a decrease in droplet mass at constant droplet concentration, is valid only in cases of monodisperse or initially very narrow polydispersemore » DSD. In cases of wide polydisperse DSD, mixing and successive evaporation lead to a decrease of both mass and concentration, so the characteristic droplet sizes remain nearly constant. As this feature is typically associated with inhomogeneous mixing, we conclude that in cases of an initially wide DSD at cloud top, homogeneous mixing is nearly indistinguishable from inhomogeneous mixing.« less

CytometryML: a markup language for analytical cytology

NASA Astrophysics Data System (ADS)

Leif, Robert C.; Leif, Stephanie H.; Leif, Suzanne B.

2003-06-01

Cytometry Markup Language, CytometryML, is a proposed new analytical cytology data standard. CytometryML is a set of XML schemas for encoding both flow cytometry and digital microscopy text based data types. CytometryML schemas reference both DICOM (Digital Imaging and Communications in Medicine) codes and FCS keywords. These schemas provide representations for the keywords in FCS 3.0 and will soon include DICOM microscopic image data. Flow Cytometry Standard (FCS) list-mode has been mapped to the DICOM Waveform Information Object. A preliminary version of a list mode binary data type, which does not presently exist in DICOM, has been designed. This binary type is required to enhance the storage and transmission of flow cytometry and digital microscopy data. Index files based on Waveform indices will be used to rapidly locate the cells present in individual subsets. DICOM has the advantage of employing standard file types, TIF and JPEG, for Digital Microscopy. Using an XML schema based representation means that standard commercial software packages such as Excel and MathCad can be used to analyze, display, and store analytical cytometry data. Furthermore, by providing one standard for both DICOM data and analytical cytology data, it eliminates the need to create and maintain special purpose interfaces for analytical cytology data thereby integrating the data into the larger DICOM and other clinical communities. A draft version of CytometryML is available at www.newportinstruments.com.

What language is the language-ready brain ready for?. Comment on "Towards a Computational Comparative Neuroprimatology: Framing the language-ready brain" by Michael A. Arbib

NASA Astrophysics Data System (ADS)

Croft, William

2016-03-01

Arbib's computational comparative neuroprimatology [1] is a welcome model for cognitive linguists, that is, linguists who ground their models of language in human cognition and language use in social interaction. Arbib argues that language emerged via biological and cultural coevolution [1]; linguistic knowledge is represented by constructions, and semantic representations of linguistic constructions are grounded in embodied perceptual-motor schemas (the mirror system hypothesis). My comments offer some refinements from a linguistic point of view.

From proto-mimesis to language: evidence from primatology and social neuroscience.

PubMed

Zlatev, Jordan

2008-01-01

How can we reconcile the conception of language as a conventional-normative semiotic system with a perception/action-based account of its structure and meaning? And why should linguistic meaning--as opposed to linguistic expression--be so closely related to motor activity and its neural underpinnings, as suggested by recent findings? A conceptual framework and evolutionary scenario building on the concept of bodily mimesis [Zlatev, J., 2005. What's in a schema? Bodily mimesis and the grounding of language. In: Hampe, B. (Ed.), From Perception to Meaning: Image Schemas in Cognitive Linguistics. Mouton de Gruyter, Berlin, pp. 313-343] imply answers to these questions. The article presents evidence for a particular evolutionary stage model by reviewing recent evidence on the capacity of non-human primates for intersubjectivity, imitation and gestural communication, and from neuroscientific studies of these capacities in monkeys and human subjects. It is argued that "mirror neuron" systems can subserve basic motoric and social capacities, but they need to be considerably extended in order to provide an efficient basis for bodily mimesis, and even more so for language. It is argued that while language may be ultimately "grounded" in perception and action, it is essential not to try to reduce it to them.

Pattern Language Development in the Preparation of Inclusive Educators

ERIC Educational Resources Information Center

Bain, Alan; Lancaster, Julie; Zundans, Lucia

2008-01-01

Pattern language is the lexicon used to express the schema of a field of professional practice (Smethurst, 1997). This lexicon is frequently presumed to exist in communities of practice in educational settings, although the findings derived from the longitudinal study of schools (Elmore, 1996; Goodlad, 1984; Lortie, 1975; McLaughlin & Talbert,…

There's Trouble in Paradise: Problems with Educational Metadata Encountered during the MALTED Project.

ERIC Educational Resources Information Center

Monthienvichienchai, Rachada; Sasse, M. Angela; Wheeldon, Richard

This paper investigates the usability of educational metadata schemas with respect to the case of the MALTED (Multimedia Authoring Language Teachers and Educational Developers) project at University College London (UCL). The project aims to facilitate authoring of multimedia materials for language learning by allowing teachers to share multimedia…

Culturally and Linguistically Responsive Schema Intervention: Improving Word Problem Solving for English Language Learners with Mathematics Difficulty

ERIC Educational Resources Information Center

Driver, Melissa K.; Powell, Sarah R.

2017-01-01

Word problems are prevalent on high-stakes assessments, and success on word problems has implications for grade promotion and graduation. Unfortunately, English Language Learners (ELLs) continue to perform significantly below their native English-speaking peers on mathematics assessments featuring word problems. Little is known about the…

Formal Schema Theory and Teaching EFL Reading

ERIC Educational Resources Information Center

Young, Barbara N; Man, Zhou

2005-01-01

Inquirers designed and conducted a study investigating whether or not results derived from previous research focusing on teaching and learning English as a native or foreign language would be replicated in a learning environment in which English is taught as a foreign language as in China. Because activation of formal schemata plays an important…

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

PubMed

Kulle, A; Krone, N; Holterhus, P M; Schuler, G; Greaves, R F; Juul, A; de Rijke, Y B; Hartmann, M F; Saba, A; Hiort, O; Wudy, S A

2017-05-01

Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 'DSDnet' 'Harmonisation of Laboratory Assessment' has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European countries or international partner countries. The topics discussed comprised analytical methods (immunoassay/mass spectrometry-based methods), matrices (urine/serum/saliva) and harmonisation of laboratory tests. The following positions were agreed upon: support of the appropriate use of immunoassay- and mass spectrometry-based methods for diagnosis and monitoring of DSD. Serum/plasma and urine are established matrices for analysis. Laboratories performing analyses for DSD need to operate within a quality framework and actively engage in harmonisation processes so that results and their interpretation are the same irrespective of the laboratory they are performed in. Participation in activities of peer comparison such as sample exchange or when available subscribing to a relevant external quality assurance program should be achieved. The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed. © 2017 The authors.

Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD).

PubMed

Wisniewski, Amy B; Espinoza-Varas, Blas; Aston, Christopher E; Edmundson, Shelagh; Champlin, Craig A; Pasanen, Edward G; McFadden, Dennis

2014-08-01

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46,XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) - the male-typical pattern - than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. Copyright © 2014 Elsevier Inc. All rights reserved.

Otoacoustic Emissions, Auditory Evoked Potentials and Self-Reported Gender in People Affected by Disorders of Sex Development (DSD)

PubMed Central

Wisniewski, Amy B.; Espinoza-Varas, Blas; Aston, Christopher E.; Edmundson, Shelagh; Champlin, Craig A.; Pasanen, Edward G.; McFadden, Dennis

2014-01-01

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) – (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46, XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) – the male-typical pattern – than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

An XML-Based Knowledge Management System of Port Information for U.S. Coast Guard Cutters

DTIC Science & Technology

2003-03-01

using DTDs was not chosen. XML Schema performs many of the same functions as SQL type schemas, but differ by the unique structure of XML documents...to access data from content files within the developed system. XPath is not equivalent to SQL . While XPath is very powerful at reaching into an XML...document and finding nodes or node sets, it is not a complete query language. For operations like joins, unions, intersections, etc., SQL is far

Heterogenous database integration in a physician workstation.

PubMed

Annevelink, J; Young, C Y; Tang, P C

1991-01-01

We discuss the integration of a variety of data and information sources in a Physician Workstation (PWS), focusing on the integration of data from DHCP, the Veteran Administration's Distributed Hospital Computer Program. We designed a logically centralized, object-oriented data-schema, used by end users and applications to explore the data accessible through an object-oriented database using a declarative query language. We emphasize the use of procedural abstraction to transparently integrate a variety of information sources into the data schema.

Heterogenous database integration in a physician workstation.

PubMed Central

Annevelink, J.; Young, C. Y.; Tang, P. C.

1991-01-01

We discuss the integration of a variety of data and information sources in a Physician Workstation (PWS), focusing on the integration of data from DHCP, the Veteran Administration's Distributed Hospital Computer Program. We designed a logically centralized, object-oriented data-schema, used by end users and applications to explore the data accessible through an object-oriented database using a declarative query language. We emphasize the use of procedural abstraction to transparently integrate a variety of information sources into the data schema. PMID:1807624

Adding Concrete Syntax to a Prolog-Based Program Synthesis System

NASA Technical Reports Server (NTRS)

Fischer, Bernd; Visser, Eelco

2003-01-01

Program generation and transformation systems manipulate large, pa- rameterized object language fragments. Support for user-definable concrete syntax makes this easier but is typically restricted to certain object and meta languages. We show how Prolog can be retrofitted with concrete syntax and describe how a seamless interaction of concrete syntax fragments with an existing legacy meta-programming system based on abstract syntax is achieved. We apply the approach to gradually migrate the schemas of the AUTOBAYES program synthesis system to concrete syntax. Fit experiences show that this can result in a considerable reduction of the code size and an improved readability of the code. In particular, abstracting out fresh-variable generation and second-order term construction allows the formulation of larger continuous fragments and improves the locality in the schemas.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

PubMed

Meyers-Wallen, Vicki N; Boyko, Adam R; Danko, Charles G; Grenier, Jennifer K; Mezey, Jason G; Hayward, Jessica J; Shannon, Laura M; Gao, Chuan; Shafquat, Afrah; Rice, Edward J; Pujar, Shashikant; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

PubMed Central

Boyko, Adam R.; Grenier, Jennifer K.; Mezey, Jason G.; Hayward, Jessica J.; Shannon, Laura M.; Gao, Chuan; Shafquat, Afrah; Rice, Edward J.; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H.

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism. PMID:29053721

Key discussions from the Working Party on Disorders of Sex Development (DSD) evaluation, Foundation Merieux, Annecy, France, March 14-17, 2012

PubMed Central

2013-01-01

Four topics from the DSD Working Party, a meeting to provide information regarding future studies, reported here are the complexities of hypospadias, surgical treatment of virilized genitalia of 46,XX DSD individuals, advances in phalloplasty and psychological, social and sexual outcomes. PMID:23829860

The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity.

PubMed

Chowdhury, Tanvir K; Kabir, Mahfuzul; Chowdhury, Md Zonaid; Hutson, John M; Banu, Tahmina

2014-12-01

We aimed to assess how the diagnosis and determination of gender identity of disorders of sex development (DSD) is different in a developing country from Western medicine, and whether a pediatric surgery department can determine the underlying diagnosis and use simple tools to determine the likely gender identity (GI). We reviewed the records of DSD patients admitted to the Department of Pediatric Surgery, Chittagong Medical College & Hospital (CMCH), Chittagong, Bangladesh, from January 2006 to December 2012 and performed a cross-sectional study on GI and gender-related behavior in these patients during the year 2012. DSD boys and girls answered a GI interview and had their gender role behavior assessed by observations of structural toy play and analyzed for differences in scores. This cohort of DSD patients presented in mid-childhood (6 months-16 years, mean 6.9 years) rather than infancy, and 30% came from consanguineous unions. Congenital adrenal hyperplasia (CAH) constituted only 11 of 50 (22%) of the DSD cohort, and not all families had access to steroid hormone replacement. A simple assessment of GI and gender-related behavior allowed effective gender assignment, as there was significant difference between DSD boys and girls in GI and gender-related behavior score. DSD management in Bangladesh provides some unique challenges because of limited resources. A national reference laboratory for biochemical and genetic testing and development of a quaternary referral center for DSD patients will be helpful. Continued use of the GI interview and gender-related behavior study will enable effective interim decisions about diagnosis and management. Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Novel associations in disorders of sex development: findings from the I-DSD Registry.

PubMed

Cox, Kathryn; Bryce, Jillian; Jiang, Jipu; Rodie, Martina; Sinnott, Richard; Alkhawari, Mona; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Darendeliler, Feyza; Drop, Stenvert; Ellaithi, Mona; Guran, Tulay; Hiort, Olaf; Holterhus, Paul-Martin; Hughes, Ieuan; Krone, Nils; Lisa, Lidka; Morel, Yves; Soder, Olle; Wieacker, Peter; Ahmed, S Faisal

2014-02-01

The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. To report the range of associated conditions identified in the international DSD (I-DSD) Registry. Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician. Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations. Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

PubMed

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit V; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück, Christa E

2018-01-01

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism. Mutation analysis was carried out by candidate gene approach or targeted gene panel sequencing. Functional activity of GATA4 variants was tested in vitro on the CYP17 promoter involved in sex development using JEG3 cells. We found two novel and one previously described GATA4 variants located in the N-terminal zinc finger domain of the protein. Cys238Arg variant lost transcriptional activity on the CYP17 promoter reporter, while Trp228Cys and Pro226Leu behaved similar to wild type. These results were in line with bioinformatics simulation studies. Additional DSD variations, in the LRP4 and LHCGR genes, respectively, were identified in the two 46,XY individuals without CHD. Overall, our study shows that human GATA4 mutations identified in patients with 46,XY DSD may or may not be associated with CHD. Possible explanations for phenotypical variability may comprise incomplete penetrance, variable sensitivity of partner genes, and oligogenic mechanisms.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

PubMed Central

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit V.; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück, Christa E.

2018-01-01

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism. Mutation analysis was carried out by candidate gene approach or targeted gene panel sequencing. Functional activity of GATA4 variants was tested in vitro on the CYP17 promoter involved in sex development using JEG3 cells. We found two novel and one previously described GATA4 variants located in the N-terminal zinc finger domain of the protein. Cys238Arg variant lost transcriptional activity on the CYP17 promoter reporter, while Trp228Cys and Pro226Leu behaved similar to wild type. These results were in line with bioinformatics simulation studies. Additional DSD variations, in the LRP4 and LHCGR genes, respectively, were identified in the two 46,XY individuals without CHD. Overall, our study shows that human GATA4 mutations identified in patients with 46,XY DSD may or may not be associated with CHD. Possible explanations for phenotypical variability may comprise incomplete penetrance, variable sensitivity of partner genes, and oligogenic mechanisms. PMID:29670578

Thalassiella azotovora gen. nov., sp. nov., a New Member of the Family Kineosporiaceae Isolated from Sea Water in South Korea.

PubMed

Lee, Dongwook; Jang, Jun Hyeong; Cha, Seho; Seo, Taegun

2016-11-01

A gram-positive, nonmotile, rod-shaped, nonflagellated, aerobic bacterium, designated strain DSD2(T) was isolated from a seawater sample from Sadong wharf, Ulleung-Island, South Korea. Strain DSD2(T) was found to be able to grow at pH ranging from 6 to 11 (optimum 7-8), 0-7 % (w/v) NaCl (optimum 0 %), at 10-42 °C (optimum 37 °C). 16S rRNA gene sequence analysis revealed that strain DSD2(T) was 95.8 % similar to the type strain of Kineosporia rhamnosa KACC 15195(T), 95.8 % similar to Angustibacter aerolatus KACC 15527(T), and 95.5 % similar to Kineococcus xinjiangensis KCTC 19474(T) as its closest relatives. A neighbor-joining phylogenetic tree based on the 16S rRNA gene sequence showed that strain DSD2(T) related to Micrococcineae and Kineosporiineae suborder clade. The major polar lipids were phosphoglycolipids and phospholipids. Strain DSD2(T) was found to contain MK-8 (H2) and MK-9 (H4) as the predominant menaquinone and iso-C16:0 as the major fatty acid. The isolate contained meso-diaminopimelic acid (meso-A2pm) with alanine, glutamic acid, and glycine as the diagnostic diamino acid. The DNA G+C content of strain DSD2(T) was 73.2 mol%. On the basis of phylogenetic, biochemical, chemotaxonomic, and other physiological characteristics, strain DSD2(T) is assigned to a novel species of a novel genus within the suborder Kineosporiineae and the name Thalassiella azotovora gen nov., sp. nov., is proposed. The type strain is DSD2(T) (= KCTC 39634(T) = JCM 31134(T)).

Global application of disorders of sex development-related electronic resources: e-learning, e-consultation and e-information sharing.

PubMed

Muscarella, Miriam; Kranenburg-van Koppen, Laura; Grijpink-van den Biggelaar, Kalinka; Drop, Stenvert L S

2014-01-01

The past 20 years have seen proliferation of electronic (e) resources that promote improved understanding of disorders of sex development (DSD): e-learning for physicians and trainees, e-consultation between clinicians, and e-information for families and affected individuals. Recent e-learning advances have emerged from the European Society for Pediatric Endocrinology's online learning portal for current physicians and trainees. Developed with attention to developing clinical competencies incorporating learning theory, and presenting material that represents international best practice, this e-learning portal offers advances in training, making information more accessible for clinicians and trainees. Multiple levels of instruction, authentic case examples, collaborative forums for physicians and trainees, individualized feedback and user-friendly tools represent advances in trainee and physician learning that can take place in any location. e-consultation is an emerging tool that aims to connect physicians with specialists experienced in DSD care. Although it faces logistical challenges, e-consultation carries the potential to improve DSD care, especially in remote areas with limited access to DSD specialists. e-information for families and patients of all ages is widely accessible online, often with focus on DSD biology, medical care, and psychological and social support. e-information tools aid self-management and support of those affected by DSD. Efforts to improve these resources should aim to map information to individual users, incorporate optimally clear nomenclature, and continue as a 'shared enterprise' of clinicians, affected individuals, families and researchers. Improving the quality of DSD-related e-learning and e-information and developing e-consultation carries the potential to transform DSD care and support for patients, families and physicians worldwide. © 2014 S. Karger AG, Basel.

Psychosocial well-being in Dutch adults with disorders of sex development.

PubMed

de Neve-Enthoven, Nita G M; Callens, Nina; van Kuyk, Maaike; van Kuppenveld, Jet H; Drop, Stenvert L S; Cohen-Kettenis, Peggy T; Dessens, Arianne B

2016-04-01

Atypical sex development is associated with psychosocial vulnerability. We investigated psychosocial well-being in individuals with disorders of sex development (DSD) and hypothesized that psychosocial well-being was related to degree of genital atypicality at birth. 120 male (n=16) and female (n=104) persons with DSD, aged 14-60 years, participated in a follow-up audit on psychosocial well-being. They were stratified in: women with 1) 46,XY and female genitalia, 2) 46,XY or 46,XX and atypical genitalia, and 3) men with 46,XY and atypical genitalia. We used the Illness Cognition Questionnaire (ICQ), Checklist Individual Strength (CIS8R), TNO-AZL Quality of Life questionnaire (TAAQOL), Adult Self-Report (ASR), and the Rosenberg Self-Esteem Scale (RSES). Data were compared to reference groups. Participants generally were coping well with DSD (ICQ). Women with DSD reported elevated levels of fatigue (CIS8R) and slightly more attention and memory problems (TAAQOL, ASR). Women with atypical genitalia reported more emotional and behavioral problems. On the ASR Rule-breaking Behavior and Antisocial Personality scales, these women had similar scores as reference men. Women with DSD reported a higher self-esteem (RSES). No differences in psychosocial well-being were found between men with DSD and reference men. Individuals with DSD across all diagnostic groups generally reported a good psychosocial well-being. The results further suggest involvement of prenatal androgens in the development of personality traits related to assertiveness and egocentricity. We recommend that individuals with a DSD and their families are involved in decision-making processes and have access to multidisciplinary care. Copyright © 2016 Elsevier Inc. All rights reserved.

Psychosocial implications of disorders of sex development treatment for parents.

PubMed

Wisniewski, Amy B

2017-01-01

Historically, studies of caregivers of children with disorders of sex development (DSD) have been limited. Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression, and decreased quality of life in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable. These emotions and behaviors exhibited by parents are concerning as they may limit an affected child's emotional and social development over time. Perhaps, more unique to the situation of DSD is the perceived, or real, child-focused stigma experienced by parents of children with DSD. Interventions to improve parents' psychosocial adaptation to their child's medical condition, including coaching in how to discuss their child's condition in a manner that makes them feel safe and supported, are needed to optimize outcomes for families.

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

PubMed Central

Meyers-Wallen, V.N.

2012-01-01

The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health. PMID:22005097

Gender identity outcomes in children with disorders/differences of sex development: Predictive factors.

PubMed

Bakula, Dana M; Mullins, Alexandria J; Sharkey, Christina M; Wolfe-Christensen, Cortney; Mullins, Larry L; Wisniewski, Amy B

2017-06-01

Disorders/differences of sex development (DSD) comprise multiple congenital conditions in which chromosomal, gonadal, and/or anatomical sex are discordant. The prediction of future gender identity (i.e., self-identifying as male, female, or other) in children with DSD can be imprecise, and current knowledge about the development of gender identity in people with, and without DSD, is limited. However, sex of rearing is the strongest predictor of gender identity for the majority of individuals with various DSD conditions. When making decisions regarding sex of rearing biological factors (e.g., possession of a Y chromosome, degree and duration of pre- and postnatal androgen exposure, phenotypic presentation of the external genitalia, and fertility potential), social and cultural factors, as well as quality of life should be considered. Information on gender identity outcomes across a range of DSD diagnoses is presented to aid in sex of rearing assignment. Copyright © 2017 Elsevier Inc. All rights reserved.

DSD/WBL-consistent JWL equations of state for EDC35

NASA Astrophysics Data System (ADS)

Hodgson, Alexander N.; Handley, Caroline Angela

2012-03-01

The Detonation Shock Dynamics (DSD) model allows the calculation of curvature-dependent detonation propagation. It is of particular use when applied to insensitive high explosives, such as EDC35, since they have a greater non-ideal behaviour. The DSD model is used in conjunction with experimental cylinder test data to obtain the JWL Equation of State (EOS) for EDC35. Adjustment of parameters in the JWL equation changes the expansion profile of the cylinder wall in hydrocode simulations. The parameters are iterated until the best match can be made between simulation and experiment. Previous DSD models used at AWE have no mechanism to adjust the chemical energy release to match the detonation conditions. Two JWL calibrations are performed using the DSD model, with and without Hetherington's energy release model (these proceedings). Also in use is a newly-calibrated detonation speed-curvature relation.

The Role of Variable Rules in Language Acquisition.

ERIC Educational Resources Information Center

Adamson, H. D.

This paper attempts to show the relationship between variable rules and more widely used psycholinguistic constructs such as amalgams and schemas, and to point out how variationists' methods can be useful in the study of language acquisition. The traditional rule, the rule for forming the past tense of regular verbs in English, is discussed as it…

A Qualitative Analysis of School Concept on Primary School Students

ERIC Educational Resources Information Center

Yildiz, S. Armagan

2012-01-01

Child drawing, known as language of thinking, is as an effective tool of expression as written language. The use of paper, composition, and colors are meaningful for professionals. In this research, it is intended to determine the primary school students' perception of the school and schemas with their drawings of school. Case study which is one…

Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.

PubMed

Salamon, Sylwia; Flisikowski, Krzysztof; Switonski, Marek

2017-01-01

Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2). Bisulfite-converted DNA was used for CpG methylation analysis using quantitative pyrosequencing. Promoter regions of SOX9 and WNT4 showed similar CpG methylation in each group, ranging from 0 to 5.5% and from 39 to 74%, respectively. The SOX3 promoter showed significantly higher methylation in the ovotesticular XX DSD cases and the testicular XX DSD and control males, suggesting that SOX3 methylation may play a role in canine XX DSD pathogenesis. © 2017 S. Karger AG, Basel.

Developing a Multidisciplinary Team for Disorders of Sex Development: Planning, Implementation, and Operation Tools for Care Providers

PubMed Central

Moran, Mary Elizabeth; Karkazis, Katrina

2012-01-01

In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create a clinic or team, but there is no available guidance that bridges the gap between a group of like-minded DSD providers who want to improve care and the formation of a functional MDT. This is an important dilemma, and one with serious implications for the future of DSD care. If a network of multidisciplinary DSD teams is to be a reality, those directly involved in DSD care must be given the necessary program planning and team implementation tools. This paper offers a protocol and set of tools to meet this need. We present a 6-step process to team formation, and a sample set of tools that can be used to guide, develop, and evaluate a team throughout the course of its operation. PMID:22792098

Disorders of sexual development and associated changes in the pituitary-gonadal axis in dogs.

PubMed

Buijtels, J J C W M; de Gier, J; Kooistra, H S; Grinwis, G C M; Naan, E C; Zijlstra, C; Okkens, A C

2012-10-15

Normal sexual differentiation depends on completion of chromosomal sex determination, gonadal differentiation, and development of the phenotypic sex. An irregularity in any of these three steps can lead to a disorder in sexual development (DSD). We examined nine dogs with DSD by abdominal ultrasonography, laparotomy, histologic examination of the gonads, and reproductive tract, cytogenetic analysis, and mRNA expression of the SRY gene. We also determined the plasma concentrations of luteinizing hormone (LH), estradiol-17β, and testosterone before and after administration of gonadotropin-releasing hormone (GnRH) and compared these results with those obtained in anestrous bitches and male control dogs. The gonads of three dogs with DSD contained both testicular and ovarian tissue, while in the other six only testicular tissue was found. Each of the dogs had a uterus. Based on gynecologic examination, cytogenetic analysis, and the histology of the gonads, seven of the nine dogs appeared to be XX sex reversals. Three of these were XX true hermaphrodites and four were XX males; the other two dogs had incomplete XY gonadal dysgenesis. All seven XX sex-reversed dogs were found to be negative for the SRY gene by polymerase chain reaction. The basal plasma luteinizing hormone (LH) concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma LH concentration increased significantly after GnRH administration in all dogs with DSD. The basal plasma estradiol concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma testosterone concentration was lower in dogs with DSD than in male dogs. In all dogs with DSD both the basal and GnRH-induced plasma testosterone concentrations were above the upper limit of their respective ranges in the anestrous bitches. In conclusion, the secretion of LH and estradiol in these dogs with DSD, all of which had testicular tissue in their gonads, was similar to that in male control dogs. These results indicate that the basal and/or GnRH-stimulated plasma testosterone concentration might be used to detect the presence of testicular tissue in dogs with DSD. Copyright © 2012 Elsevier Inc. All rights reserved.

The tissue microarray OWL schema: An open-source tool for sharing tissue microarray data

PubMed Central

Kang, Hyunseok P.; Borromeo, Charles D.; Berman, Jules J.; Becich, Michael J.

2010-01-01

Background: Tissue microarrays (TMAs) are enormously useful tools for translational research, but incompatibilities in database systems between various researchers and institutions prevent the efficient sharing of data that could help realize their full potential. Resource Description Framework (RDF) provides a flexible method to represent knowledge in triples, which take the form Subject-Predicate-Object. All data resources are described using Uniform Resource Identifiers (URIs), which are global in scope. We present an OWL (Web Ontology Language) schema that expands upon the TMA data exchange specification to address this issue and assist in data sharing and integration. Methods: A minimal OWL schema was designed containing only concepts specific to TMA experiments. More general data elements were incorporated from predefined ontologies such as the NCI thesaurus. URIs were assigned using the Linked Data format. Results: We present examples of files utilizing the schema and conversion of XML data (similar to the TMA DES) to OWL. Conclusion: By utilizing predefined ontologies and global unique identifiers, this OWL schema provides a solution to the limitations of XML, which represents concepts defined in a localized setting. This will help increase the utilization of tissue resources, facilitating collaborative translational research efforts. PMID:20805954

A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative).

PubMed

Salamon, Sylwia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Dzimira, Stanisław; Nizanski, Wojciech; Ochota, Malgorzata; Switonski, Marek

2014-01-01

A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely. © 2014 S. Karger AG, Basel.

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network.

PubMed

Sandberg, David E; Gardner, Melissa; Callens, Nina; Mazur, Tom

2017-06-01

Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is threefold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at 1 of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes. Steps taken in developing the largely "noncategorical" screening protocol are described. These preliminary findings suggest that DSD, as one category of pediatric chronic conditions, is not associated with marked disturbances of psychosocial adaptation, either for the family or the child; however, screening frequently uncovered "risk factors" for individual families or patients that can potentially be addressed in the context of ongoing clinical care. Administration of the DSD-TRN psychosocial screening protocol was demonstrated to be feasible in the context of interdisciplinary team care and was acceptable to families on a longitudinal basis. The ultimate value of systematic screening will be demonstrated through a tailoring of psychosocial, medical and surgical services, based on this information that enhances the quality of patient and family-centered care and subsequent outcomes. © 2017 Wiley Periodicals, Inc.

Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study.

PubMed

Kreukels, Baudewijntje P C; Köhler, Birgit; Nordenström, Anna; Roehle, Robert; Thyen, Ute; Bouvattier, Claire; de Vries, Annelou L C; Cohen-Kettenis, Peggy T

2018-05-01

Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD. The cohort (mean age = 32.36 years, SD = 13.57) was divided into 6 major subgroups: women with 45,X DSD and variants (Turner syndrome; n = 325), men with 47,XXY DSD and variants (Klinefelter syndrome; n = 219), women with XY DSD without androgen effects (n = 107) and with androgen effects (n = 63), men with XY DSD (n = 87), and women with 46,XX congenital adrenal hyperplasia (n = 221). Data on psychosexual outcome were gathered by medical interviews and questionnaires. Gender change and gender dysphoria. Although gender changes were reported by 5% of participants, only in 1% (3% if those with Klinefelter and Turner syndromes-conditions in which gender issues are not prominent-are excluded) did the gender change take place after puberty and was likely initiated by the patient. 39 participants (4%) reported gender variance: between male and female, a gender other than male or female, or gender queer, alternating gender roles, or a gender expression that differed from the reported gender. This group had lower self-esteem and more anxiety and depression than the other participants. Clinicians should be aware of and sensitive to the possibility that their patients with DSD not only might have transgender feelings and a desire to change gender, but also identify as different from male or female. The complexity of their feelings might require counseling for some patients. The study is unique in the large number of participants from many different clinics, with sizable numbers in most subgroups, and in the large number of aspects that were measured. However, the very broadness of the study made it impossible to focus in detail on gender issues. Also, there is a need for instruments specifically measuring gender dysphoria in individuals with DSD that take non-binary genders into account. To make appropriate gender care possible for people with DSD, the gender-normative and gender-variant development of children with DSD should be studied in longitudinal studies. Kreukels BPC, Köhler B, Nordenström A, et al. Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study. J Sex Med 2018;15:777-785. Copyright © 2018 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

The relation between moisture and liquid water content in fog - an experimental approach

NASA Astrophysics Data System (ADS)

Gonser, S.; Griessbaum, F.; Chang, S.-C.; Chu, H.-S.; Hsia, Y.-J.; Klemm, O.

2010-07-01

In July 2009, microphysical measurements of orographic fog were performed above a montane cloud forest in north eastern Taiwan (Chilan mountain site). At this location, orographic fog appears almost every day. The goal of this work was to study the short term variations of the droplet size distribution (DSD), temperature, and relative humidity (RH), with a temporal resolution of 3 Hz. The relative humidity was calculated from precise temperature readings and absolute humidity (AH) measurements, recorded by a temperature sensor with an accuracy of 0.002°C (Model TR-1050, RBR Ltd.) and an infrared gas analyzer (Model Li-7500, LI-COR Biosciences), respectively. DSD's were measured by an optical droplet spectrometer (Model FM100, Droplet Measurement Technologies). It provides droplet spectra between 2 and 50 µm diameter. The liquid water content (LWC) of the fog was deduced from the measured DSD's. Data showed that orographic fog is composed of various air parcels of different size, RH and DSD. Three general types of fog parcels have been identified via the recorded DSD’s. DSD-type 1 is characterized by narrow spectra with maximum concentrations in the smallest size class and a continuous decrease towards greater diameters, DSD-type 2 represents slightly broader spectra with a plateau or second peak around 10 µm, and DSD-type 3 exhibits broad spectra with the droplet number concentrations peaking around 15 µm diameter. The appearance of the three different DSD-types is strongly related to RH and the general evolutional state of the fog. At the onset of a fog event, DSD’s are largely dominated by small droplets (DSD-type 1). Later on the spectra tend to become broader, RH shows relative low values, and DSD-type 3 is dominating the DSD’s. A statistical analysis of the characteristics of these parcels was performed and yielded large variability in persistence, RH, and LWC. DSD-type 2 showed the shortest durations and can, therefore, be regarded as a transitional state between the other two DSD-types. Further, the 3 Hz data revealed an inverse relation between RH and LWC. In principle, this finding can be explained by the diffusional growth theory for droplets containing soluble or insoluble materials. Droplets with greater diameters are able to exist at lower ambient RH’s than smaller droplets. If, on the other hand, the large observed variabilities of both LWC and RH can be explained through these considerations, remains unclear so far. Likely, local disequilibrium between the fog droplets and the bulk gas phase during turbulent transport is a cause for the observed effects. More analyses including fog droplet chemistry and dynamic microphysical modeling are required to further analyze these findings. To our knowledge, this is the first experimental field observation of the anti-correlation between RH and LWC in fog.

On the Use of the Log-Normal Particle Size Distribution to Characterize Global Rain

NASA Technical Reports Server (NTRS)

Meneghini, Robert; Rincon, Rafael; Liao, Liang

2003-01-01

Although most parameterizations of the drop size distributions (DSD) use the gamma function, there are several advantages to the log-normal form, particularly if we want to characterize the large scale space-time variability of the DSD and rain rate. The advantages of the distribution are twofold: the logarithm of any moment can be expressed as a linear combination of the individual parameters of the distribution; the parameters of the distribution are approximately normally distributed. Since all radar and rainfall-related parameters can be written approximately as a moment of the DSD, the first property allows us to express the logarithm of any radar/rainfall variable as a linear combination of the individual DSD parameters. Another consequence is that any power law relationship between rain rate, reflectivity factor, specific attenuation or water content can be expressed in terms of the covariance matrix of the DSD parameters. The joint-normal property of the DSD parameters has applications to the description of the space-time variation of rainfall in the sense that any radar-rainfall quantity can be specified by the covariance matrix associated with the DSD parameters at two arbitrary space-time points. As such, the parameterization provides a means by which we can use the spaceborne radar-derived DSD parameters to specify in part the covariance matrices globally. However, since satellite observations have coarse temporal sampling, the specification of the temporal covariance must be derived from ancillary measurements and models. Work is presently underway to determine whether the use of instantaneous rain rate data from the TRMM Precipitation Radar can provide good estimates of the spatial correlation in rain rate from data collected in 5(sup 0)x 5(sup 0) x 1 month space-time boxes. To characterize the temporal characteristics of the DSD parameters, disdrometer data are being used from the Wallops Flight Facility site where as many as 4 disdrometers have been used to acquire data over a 2 km path. These data should help quantify the temporal form of the covariance matrix at this site.

A reactive and sensitive diffusion sampler for the determination of aldehydes and ketones in ambient air

NASA Astrophysics Data System (ADS)

Uchiyama, Shigehisa; Hasegawa, Shuji

We developed a diffusive sampling device (DSD-carbonyl) for organic carbonyl compounds (aldehydes and ketones) which is suitable for collection and analysis of low concentration levels. This sampling device is composed of three parts, an exposure part made of a porous polytetrafluoroethylene (PPTFE) tube, an analysis part made of polypropylene (PP) tubing and an absorbent part made of 2,4-dinitrophenylhydrazine (DNPH) coated silica gel (DNPH-silica). Aldehydes and ketones diffuse to the DSD-carbonyl through PPTFE-tube by the mechanism of molecular diffusion and react specifically with DNPH to form a stable DNPH-derivatives. Collection is controlled by moving the absorbent from the exposure part to the analysis part by changing the posture of the DSD-carbonyl. DNPH-derivatives were eluted from an analysis part of DSD-carbonyl with acetonitrile directly and analyzed by high performance liquid chromatography (HPLC). The advantages of the DSD-carbonyl are the following: (1) The DSD-carbonyl can be used in a wide range of concentration of aldehydes and ketones in atmosphere, as the DSD-carbonyl exposure part has a variable diffusion area, (2) DNPH-derivatives are eluted from DNPH-silica without contamination of air. (3) The sampler can be applied to active sampling by connecting it with a pump. The limit of detection (LOD) for concentrations of major aldehydes and ketones ranged from 0.072 to 0.13 ppb, and the limit of quantitation (LOQ) ranged from 0.24 to 0.42 ppb. The coefficient variation (CV) for concentrations of major aldehydes and ketones ranged from 2.5 to 3.0% in laboratory air. The DSD-carbonyl method and active sampling method (US EPA method IP-6A) showed a good correlation (formaldehyde, r2=0.995). The uptake rates for formaldehyde, acetaldehyde, and acetone were estimated as 0.078, 0.062 and 0.079 nmol ppb -1 h -1, respectively. It is possible to estimate atmospheric aldehydes and ketones at parts per billion (ppb), with high sensitivity and precision, by using DSD-carbonyl.

Modeling and validating HL7 FHIR profiles using semantic web Shape Expressions (ShEx).

PubMed

Solbrig, Harold R; Prud'hommeaux, Eric; Grieve, Grahame; McKenzie, Lloyd; Mandel, Joshua C; Sharma, Deepak K; Jiang, Guoqian

2017-03-01

HL7 Fast Healthcare Interoperability Resources (FHIR) is an emerging open standard for the exchange of electronic healthcare information. FHIR resources are defined in a specialized modeling language. FHIR instances can currently be represented in either XML or JSON. The FHIR and Semantic Web communities are developing a third FHIR instance representation format in Resource Description Framework (RDF). Shape Expressions (ShEx), a formal RDF data constraint language, is a candidate for describing and validating the FHIR RDF representation. Create a FHIR to ShEx model transformation and assess its ability to describe and validate FHIR RDF data. We created the methods and tools that generate the ShEx schemas modeling the FHIR to RDF specification being developed by HL7 ITS/W3C RDF Task Force, and evaluated the applicability of ShEx in the description and validation of FHIR to RDF transformations. The ShEx models contributed significantly to workgroup consensus. Algorithmic transformations from the FHIR model to ShEx schemas and FHIR example data to RDF transformations were incorporated into the FHIR build process. ShEx schemas representing 109 FHIR resources were used to validate 511 FHIR RDF data examples from the Standards for Trial Use (STU 3) Ballot version. We were able to uncover unresolved issues in the FHIR to RDF specification and detect 10 types of errors and root causes in the actual implementation. The FHIR ShEx representations have been included in the official FHIR web pages for the STU 3 Ballot version since September 2016. ShEx can be used to define and validate the syntax of a FHIR resource, which is complementary to the use of RDF Schema (RDFS) and Web Ontology Language (OWL) for semantic validation. ShEx proved useful for describing a standard model of FHIR RDF data. The combination of a formal model and a succinct format enabled comprehensive review and automated validation. Copyright © 2017 Elsevier Inc. All rights reserved.

Onomatopoeias: a new perspective around space, image schemas and phoneme clusters.

PubMed

Catricalà, Maria; Guidi, Annarita

2015-09-01

Onomatopoeias (

A Metadata Model for E-Learning Coordination through Semantic Web Languages

ERIC Educational Resources Information Center

Elci, Atilla

2005-01-01

This paper reports on a study aiming to develop a metadata model for e-learning coordination based on semantic web languages. A survey of e-learning modes are done initially in order to identify content such as phases, activities, data schema, rules and relations, etc. relevant for a coordination model. In this respect, the study looks into the…

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

PubMed

Berglund, A; Johannsen, T H; Stochholm, K; Aksglaede, L; Fedder, J; Viuff, M H; Main, K M; Gravholt, C H

2017-08-01

What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. 46,XX DSD males are rare and estimates of prevalence and incidence are limited. An increased morbidity and mortality as well as a negatively affected socioeconomic status are described in males with Klinefelter Syndrome. However, this has never been systematically studied in 46,XX DSD males. In this nationwide registry study including 44 males with a verified diagnosis of 46,XX DSD we aimed to estimate incidence, prevalence and diagnostic delay. Further, we aimed to study morbidity, mortality and socioeconomic outcome parameters using the Danish registries. The socioeconomic outcome parameters were education, income, retirement, parenthood and cohabitation. 46,XX DSD males were born during 1908-2012 and follow-up started at birth or at start of registration and ended in 2014. Potential cases (n = 69) were identified in the Danish Cytogenetic Central Registry and the diagnosis was verified by medical record evaluation (n = 44). A randomly selected age-matched control group of 100 males and 100 females per case was identified by Statistics Denmark. Among newborn males the prevalence of diagnosed 46,XX DSD males was 3.5-4.7 per 100 000. Median age at diagnosis was 17.0 years (range: 0.0-62.8). Overall morbidity was increased compared to male controls (hazard ratio [HR] = 2.4, 95% CI: 1.8-3.3) but not when excluding endocrine and urogenital diseases as well as congenital malformations (HR = 1.2, 95% CI: 0.8-1.6). Mortality was not increased (HR = 0.6, 95% CI: 0.2-2.5) compared to male controls. 46,XX DSD males had poorer education (HR = 0.1, 95% CI: 0.0-0.9) and fewer fatherhoods (HR = 0.4, 95% CI: 0.2-0.7) than male controls, and their income was reduced for the following age groups; 45-49 years: odds ratio [OR] = 0.4 (95% CI: 0.2-0.7); 50-54 years: OR = 0.1 (95% CI: 0.0-0.6). The study cohort is rather small, although it is large in comparison to other studies on 46,XX DSD males. Some 46,XX DSD males may have been excluded from the study owing to lack of data in medical records, making the diagnosis impossible to verify. As in all epidemiologic studies a risk of misclassification must be considered when interpreting the study results, and as the study included diagnosed 46,XX DSD males only, conclusions cannot be extended to non-diagnosed 46,XX DSD males. This study provides a new insight into trajectory of health and socioeconomic status of 46,XX DSD males. This study was funded by research grants from the Health Research Fund of Central Denmark Region, the A.P. Møller Foundation 'Fonden til Laegevidenskabens Fremme', the Lundbeck Foundation and the Novo Nordisk Foundation (NNF13OC0003234 and NNF15OC0016474). The authors have nothing to declare. N/A. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

[Disorders of sex development and proximal hypospadias].

PubMed

Oswald, J

2016-01-01

Children with ambiguous genitalia due to different chromosome or gonadal sex are a particular challenge concerning the diagnostic and therapeutic implications. Proximal hypospadias patients with normal gonadal development should be distinguished from children with DSD (disorders of sex development) to guarantee normal gender identity and the best possible surgical therapy. This paper focuses on the terminology, embryology, and pathophysiology of the different manifestations of DSD. The state of knowledge about this disease pattern with particular emphasis on proximal hypospadias based on national and international scientific discussions is presented. The different clinical pictures as well as therapeutic options of DSD with a special focus on recent literature and giving particular attention to patients with proximal hypospadias are presented. Because of the complexity of patients suffering from disorders of sex development an interdisciplinary DSD healthcare team including a paediatric endocrinologist as well as paediatric urologist should be provided. These specialists enable an accurate diagnosis in severe hypospadias patients without reference to DSD diseases patterns.

Detonation Shock Dynamics (DSD) Calibration for LX-17

DOE Office of Scientific and Technical Information (OSTI.GOV)

Aslam, Tariq D

2012-04-24

The goal of this report is to summarize the results of a Detonation shock dynamics (DSD) calibration for the explosive LX-17. Considering that LX-17 is very similar to PBX 9502 (LX-17 is 92.5% TATB with 7.5% Kel-F 800 binder, while PBX 9502 is 95% TATB with 5% Kel-F 800 binder), we proceed with the analysis assuming many of the DSD constants are the same. We only change the parameters D{sub CJ}, B and {bar C}{sub 6} ({bar C}{sub 6} controls the how D{sub CJ} changes with pressing density). The parameters D{sub CJ} and {bar C}{sub 6} were given by Joshmore » Coe and Sam Shaw's EOS. So, only B was optimized in fitting all the calibration data. This report first discusses some general DSD background, followed by a presentation of the available dataset to perform the calibration, and finally gives the results of the calibration and draws some conclusions. A DSD calibration of LX-17 has been conducted using the existing diameter effect data and shock shape records. The new DSD fit is based off the current PBX 9502 calibration and takes into account the effect of pressing density. Utilizing the PBX 9502 calibration, the effects of initial temperature can also be taken into account.« less

Linkage between canopy water storage and drop size distributions of leaf drips

NASA Astrophysics Data System (ADS)

Nanko, Kazuki; Watanabe, Ai; Hotta, Norifumi; Suzuki, Masakazu

2013-04-01

Differences in drop size distribution (DSD) of leaf drips among tree species have been estimated and physically interpreted to clarify the leaf drip generation process. Leaf drip generation experiments for nine species were conducted in an indoor location without foliage vibration using an automatic mist spray. Broad-leaved species produced a similar DSD among species whose leaves had a matte surface and a second similar DSD among species whose leaves had a coated surface. The matte broad leaves produced a larger and wider range of DSDs than the coated broad leaves. Coated coniferous needles had a wider range of DSDs than the coated broad leaves and different DSDs were observed for different species. The species with shorter dense needles generated a larger DSD. The leaf drip diameter was calculated through the estimation of a state of equilibrium of a hanging drop on the leaves based on physical theory. The calculations indicated that the maximum diameter of leaf drips was determined by the contact angle, and the range of DSDs was determined by the variation in contact length and the contact diameter at the hanging points. The results revealed that leaf drip DSD changed due to variations in leaf hydrophobicity, leaf roughness, leaf geometry and leaf inclination among the different tree species. This study allows the modelization of throughfall DSD. Furthermore, it indicates the possibility of interpreting canopy water processes from canopy water storage to drainage through the contact angle and leaf drip DSD. The part of this study is published in Nanko et al. (2013, Agric. Forest. Meteorol. 169, 74-84).

Interdisciplinary Care in Disorders/Differences of Sex Development (DSD): The Psychosocial Component of the DSD – Translational Research Network

PubMed Central

Sandberg, David E.; Gardner, Melissa; Callens, Nina; Mazur, Tom

2017-01-01

Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is three-fold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at one of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes. Steps taken in developing the largely “noncategorical” screening protocol are described. These preliminary findings suggest that DSD, as one category of pediatric chronic conditions, is not associated with marked disturbances of psychosocial adaptation, either for the family or the child; however, screening frequently uncovered “risk factors” for individual families or patients that can potentially be addressed in the context of ongoing clinical care. Administration of the DSD-TRN psychosocial screening protocol was demonstrated to be feasible in the context of interdisciplinary team care and was acceptable to families on a longitudinal basis. The ultimate value of systematic screening will be demonstrated through a tailoring of psychosocial, medical and surgical services, based on this information that enhances the quality of patient and family-centered care and subsequent outcomes. PMID:28574671

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma.

PubMed

Fisher, A D; Ristori, J; Fanni, E; Castellini, G; Forti, G; Maggi, M

2016-11-01

Disorders of Sex Development (DSD) are a wide range of congenital conditions characterized by an incongruence of components involved in sexual differentiation, including gender psychosexual development. The management of such disorders is complex, and one of the most crucial decision is represented by gender assignment. In fact, the primary goal in DSD is to have a gender assignment consistent with the underlying gender identity in order to prevent the distress related to a forthcoming Gender Dysphoria. Historically, gender assignment was based essentially on surgical outcomes, assuming the neutrality of gender identity at birth. This policy has been challenged in the past decade refocusing on the importance of prenatal and postnatal hormonal and genetic influences on psychosexual development. (1) to update the main psychological and medical issues that surround DSD, in particular regarding gender identity and gender assignment; (2) to report specific clinical recommendations according to the different diagnosis. A systematic search of published evidence was performed using Medline (from 1972 to March 2016). Review of the relevant literature and recommendations was based on authors' expertise. A review of gender identity and assignment in DSD is provided as well as clinical recommendations for the management of individuals with DSD. Given the complexity of this management, DSD individuals and their families need to be supported by a specialized multidisciplinary team, which has been universally recognized as the best practice for intersexual conditions. In case of juvenile GD in DSD, the prescription of gonadotropin-releasing hormone analogues, following the World Professional Association for Transgender Health and the Endocrine Society guidelines, should be considered. It should always be taken into account that every DSD person is unique and has to be treated with individualized care. In this perspective, international registries are crucial to improve the understanding of these challenging conditions and clinical practice, in providing a better prediction of gender identity.

Prevalence of c-KIT Mutations in Gonadoblastoma and Dysgerminomas of Patients with Disorders of Sex Development (DSD) and Ovarian Dysgerminomas

PubMed Central

Hersmus, Remko; Stoop, Hans; van de Geijn, Gert Jan; Eini, Ronak; Biermann, Katharina; Oosterhuis, J. Wolter; DHooge, Catharina; Schneider, Dominik T.; Meijssen, Isabelle C.; Dinjens, Winand N. M.; Dubbink, Hendrikus Jan; Drop, Stenvert L. S.; Looijenga, Leendert H. J.

2012-01-01

Activating c-KIT mutations (exons 11 and 17) are found in 10–40% of testicular seminomas, the majority being missense point mutations (codon 816). Malignant ovarian dysgerminomas represent ∼3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. DSD patients with specific Y-sequences have an increased risk for Type II Germ Cell Tumor/Cancer, with gonadoblastoma as precursor progressing to dysgerminoma. Here we present analysis of c-KIT exon 8, 9, 11, 13 and 17, and PDGFRA exon 12, 14 and 18 by conventional sequencing together with mutational analysis of c-KIT codon 816 by a sensitive and specific LightCycler melting curve analysis, confirmed by sequencing. The results are combined with data on TSPY and OCT3/4 expression in a series of 16 DSD patients presenting with gonadoblastoma and dysgerminoma and 15 patients presenting pure ovarian dysgerminomas without DSD. c-KIT codon 816 mutations were detected in five out of the total of 31 cases (all found in pure ovarian dysgerminomas). A synonymous SNP (rs 5578615) was detected in two patients, one DSD patient (with bilateral disease) and one patient with dysgerminoma. Next to these, three codon N822K mutations were detected in the group of 15 pure ovarian dysgerminomas. In total activating c-KIT mutations were found in 53% of ovarian dysgerminomas without DSD. In the group of 16 DSD cases a N505I and D820E mutation was found in a single tumor of a patient with gonadoblastoma and dysgerminoma. No PDGFRA mutations were found. Positive OCT3/4 staining was present in all gonadoblastomas and dysgerminomas investigated, TSPY expression was only seen in the gonadoblastoma/dysgerminoma lesions of the 16 DSD patients. This data supports the existence of two distinct but parallel pathways in the development of dysgerminoma, in which mutational status of c-KIT might parallel the presence of TSPY. PMID:22937135

AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development

PubMed Central

Vu, Dung Chi; Nguyen, Khanh Ngoc; Can, Ngoc Bich; Bui, Thao Phuong; Fukami, Maki

2017-01-01

Background Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Causative mutations have not been identified in more than 50% 46,XY DSD cases. We aimed to identify chromosomal rearrangement in the development of 46,XY DSD in Vietnamese patients. Methods Case series report including clinical presentations and data from array-based comparative genomic hybridization analysis for six genetic males with genital abnormalities combines with mental disability and other congenital anomalies. Results Heterozygous submicroscopic deletions and/or duplications were identified in six cases. A 7.2 Mb terminal deletion at chromosome 9 including deletion of DMRT1 gene and a 2.7 Mb terminal duplication at chromosome 17 were detected in case 1 that presented with prematurity, dysmorphism and ambiguous genitalia. A terminal deletion affects DMRT1-3 at 9p22-23 was identified in case 2 with ambiguous genitalia, mental disability and dysmorphism. An 18 Mb terminal duplication at chromosome 5 was detected in case 3 with DSD, growth retardation, microcephaly and dysmorphism, ptosis, ventricular septal defect and craniosynostosis. An interstitial deletion including deletions of WT1, PAX6, and PRRG4 genes at chromosome 11 was detected in case 4 with WAGR syndrome. A terminal duplication at chromosome 7 was detected in case 5 with DSD, severe hypospadias, small phallus size (1 cm at 3 years of age), and no testis found clinically. A 5 Mb terminal deletion at chromosome 4 and a 6 Mb terminal duplication of chromosome 16 were detected in case 6 with severe motor-mental retardation, microcephaly (head circumference −3.5 SD), micrognathia, and DSD. Conclusions The results indicate that chromosomal rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions and/or duplication can lead to various types of 46,XY DSD combined with other congenital anomalies and/or mental disability.

The Surgical Simulation and Training Markup Language (SSTML): an XML-based language for medical simulation.

PubMed

Bacon, James; Tardella, Neil; Pratt, Janey; Hu, John; English, James

2006-01-01

Under contract with the Telemedicine & Advanced Technology Research Center (TATRC), Energid Technologies is developing a new XML-based language for describing surgical training exercises, the Surgical Simulation and Training Markup Language (SSTML). SSTML must represent everything from organ models (including tissue properties) to surgical procedures. SSTML is an open language (i.e., freely downloadable) that defines surgical training data through an XML schema. This article focuses on the data representation of the surgical procedures and organ modeling, as they highlight the need for a standard language and illustrate the features of SSTML. Integration of SSTML with software is also discussed.

Computer-Aided Clinical Trial Recruitment Based on Domain-Specific Language Translation: A Case Study of Retinopathy of Prematurity

PubMed Central

2017-01-01

Reusing the data from healthcare information systems can effectively facilitate clinical trials (CTs). How to select candidate patients eligible for CT recruitment criteria is a central task. Related work either depends on DBA (database administrator) to convert the recruitment criteria to native SQL queries or involves the data mapping between a standard ontology/information model and individual data source schema. This paper proposes an alternative computer-aided CT recruitment paradigm, based on syntax translation between different DSLs (domain-specific languages). In this paradigm, the CT recruitment criteria are first formally represented as production rules. The referenced rule variables are all from the underlying database schema. Then the production rule is translated to an intermediate query-oriented DSL (e.g., LINQ). Finally, the intermediate DSL is directly mapped to native database queries (e.g., SQL) automated by ORM (object-relational mapping). PMID:29065644

Computer-Aided Clinical Trial Recruitment Based on Domain-Specific Language Translation: A Case Study of Retinopathy of Prematurity.

PubMed

Zhang, Yinsheng; Zhang, Guoming; Shang, Qian

2017-01-01

Reusing the data from healthcare information systems can effectively facilitate clinical trials (CTs). How to select candidate patients eligible for CT recruitment criteria is a central task. Related work either depends on DBA (database administrator) to convert the recruitment criteria to native SQL queries or involves the data mapping between a standard ontology/information model and individual data source schema. This paper proposes an alternative computer-aided CT recruitment paradigm, based on syntax translation between different DSLs (domain-specific languages). In this paradigm, the CT recruitment criteria are first formally represented as production rules. The referenced rule variables are all from the underlying database schema. Then the production rule is translated to an intermediate query-oriented DSL (e.g., LINQ). Finally, the intermediate DSL is directly mapped to native database queries (e.g., SQL) automated by ORM (object-relational mapping).

Development of Schema Knowledge in the Classroom: Effects upon Problem Representation and Problem Solution of Programming.

ERIC Educational Resources Information Center

Tsai, Shu-Er

Students with a semester or more of instruction often display remarkable naivety about the language that they have been studying and often prove unable to manage simple programming problems. The main purpose of this study was to create a set of problem-plan-program types for the BASIC programming language to help high school students build plans…

The Graphical Representation of the Digital Astronaut Physiology Backbone

NASA Technical Reports Server (NTRS)

Briers, Demarcus

2010-01-01

This report summarizes my internship project with the NASA Digital Astronaut Project to analyze the Digital Astronaut (DA) physiology backbone model. The Digital Astronaut Project (DAP) applies integrated physiology models to support space biomedical operations, and to assist NASA researchers in closing knowledge gaps related to human physiologic responses to space flight. The DA physiology backbone is a set of integrated physiological equations and functions that model the interacting systems of the human body. The current release of the model is HumMod (Human Model) version 1.5 and was developed over forty years at the University of Mississippi Medical Center (UMMC). The physiology equations and functions are scripted in an XML schema specifically designed for physiology modeling by Dr. Thomas G. Coleman at UMMC. Currently it is difficult to examine the physiology backbone without being knowledgeable of the XML schema. While investigating and documenting the tags and algorithms used in the XML schema, I proposed a standard methodology for a graphical representation. This standard methodology may be used to transcribe graphical representations from the DA physiology backbone. In turn, the graphical representations can allow examination of the physiological functions and equations without the need to be familiar with the computer programming languages or markup languages used by DA modeling software.

Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study.

PubMed

Słowikowska-Hilczer, Jolanta; Hirschberg, Angelica Lindén; Claahsen-van der Grinten, Hedi; Reisch, Nicole; Bouvattier, Claire; Thyen, Ute; Cohen Kettenis, Peggy; Roehle, Robert; Köhler, Birgit; Nordenström, Anna

2017-11-01

To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. A cross-sectional multicenter study, dsd-LIFE. Not applicable. A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated. A web-based questionnaire was filled out by all participants. The participants could chose to take part in somatic investigations including ultrasonography. Information on partner, number of children, ART, adoption and step-children, general health, presence of gonads and uterus, current education and economic situation, received information on fertility issues, and satisfaction with the information, was collected. In the total cohort, mean age 32 years, 33% lived with a partner, but only 14% reported having at least one child including 7% with ART, 4% adopted. Only 3.5% of the total cohort had been able to reproduce without ART, most frequently women with congenital adrenal hyperplasia, and only 0.7% of participants with other diagnoses. Of the participants, 72% had received information on fertility, but 17% were not satisfied with the information. Fertility outcome is significantly reduced in all types of DSD; however, fertility potential should be assessed individually. The satisfaction with how fertility problems have been discussed can be improved. The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Relationships between the Raindrop Size Distribution and Properties of the Environment and Clouds Inferred from TRMM

NASA Technical Reports Server (NTRS)

Munchak, Stephen Joseph; Kummerow, Christian; Elsaesser, Gregory

2013-01-01

Variability in the raindrop sized distribution (DSD) has long been recognized as a source of uncertainty in relationships between radar reflectivity Z and rain rate R. In this study, we analyze DSD retrievals from two years of data gathered by the Tropical Rainfall Measuring Mission (TRMM) satellite and processed with a combined radar-radiometer retrieval algorithm over the global oceans equatorward of 35?. Numerous variables describing properties of each reflectivity profile, large-scale organization, and the background environment are examined for relationships to the reflectivity-normalized median drop diameter, epsilonDSD. In general, we find that higher freezing levels and relative humidities are associated with smaller epsilonDSD. Within a given environment, the mesoscale organization of precipitation and the vertical profile of reflectivity are associated with DSD characteristics. In the tropics, the smallest epsilonDSD values are found in large but shallow convective systems, where warm rain formation processes are thought to be predominant, whereas larger sizes are found in the stratiform regions of organized deep convection. In the extratropics, the largest epsilonDSD values are found in the scattered convection that occurs when cold, dry continental air moves over the much warmer ocean after the passage of a cold front. The geographical distribution of the retrieved DSDs is consistent with many of the observed regional Z-R relationships found in the literature as well as discrepancies between the TRMM radar-only and radiometer-only precipitation products. In particular, mid-latitude and tropical regions near land tend to have larger drops for a given reflectivity, whereas the smallest drops are found in the eastern Pacific Intertropical Convergence Zone.

Rare cases of disorders of sex development (DSD) in adolescents with female phenotype.

PubMed

Kristesashvili, Jenara; Chipashvili, Mariam; Jorbenadze, Teimuraz; Greydanus, Donald E

2012-01-01

Disorders of sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. In this article we present four rare cases of DSD in female phenotype adolescents: two cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; one familial case of androgen insensitivity syndrome (AIS) with early malignancy (19-year-old) of intra-abdominally-located testicle in older siblings, and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific, as well as a practical, point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients in order to avoid physiological stress, to reduce health risks and to improve quality of life.

DSD-Consistent JWL Equations of State for EDC35

NASA Astrophysics Data System (ADS)

Hodgson, Alexander

2011-06-01

The Detonation Shock Dynamics model (DSD) allows the calculation of curvature-dependent detonation propagation. It is of particular use when applied to insensitive high explosives, such as EDC35, since they have a greater non-ideal behaviour. The DSD model has been used in conjunction with an experimental cylinder test to obtain the JWL Equation of State (EoS) for EDC35. Adjustment of parameters in the JWL equation changes the expansion profile of the simulated wall expansion. The parameters are iterated until the best match can be made between simulation and experiment. Previous DSD models used at AWE have no energy release mechanism to adjust the release of chemical energy to match the detonation conditions. Two JWL calibrations are performed using the DSD model, with and without Hetherington's energy release model (these proceedings). Also in use is a newly-calibrated detonation speed-curvature relation that is much closer, compared to previous calibrations, to Bdzil's equivalent for PBX9502. This paper discusses the possible improvements that this approach makes to the EDC35 JWL EoS.

The carbohydrate sequence markup language (CabosML): an XML description of carbohydrate structures.

PubMed

Kikuchi, Norihiro; Kameyama, Akihiko; Nakaya, Shuuichi; Ito, Hiromi; Sato, Takashi; Shikanai, Toshihide; Takahashi, Yoriko; Narimatsu, Hisashi

2005-04-15

Bioinformatics resources for glycomics are very poor as compared with those for genomics and proteomics. The complexity of carbohydrate sequences makes it difficult to define a common language to represent them, and the development of bioinformatics tools for glycomics has not progressed. In this study, we developed a carbohydrate sequence markup language (CabosML), an XML description of carbohydrate structures. The language definition (XML Schema) and an experimental database of carbohydrate structures using an XML database management system are available at http://www.phoenix.hydra.mki.co.jp/CabosDemo.html kikuchi@hydra.mki.co.jp.

Producing a Data Dictionary from an Extensible Markup Language (XML) Schemain the Global Force Management Data Initiative

DTIC Science & Technology

2017-02-01

entity relationship (diagram) EwID Enterprise-wide Identifier FMID Force Management Identifier GFM Global Force Management HTML Hypertext Markup Language... Management Data Initiative by Frederick S Brundick Approved for public release; distribution is unlimited. NOTICES Disclaimers The findings in this report...Schema in the Global Force Management Data Initiative by Frederick S Brundick Computing and Information Sciences Directorate, ARL Approved for public

Towards comprehensive syntactic and semantic annotations of the clinical narrative

PubMed Central

Albright, Daniel; Lanfranchi, Arrick; Fredriksen, Anwen; Styler, William F; Warner, Colin; Hwang, Jena D; Choi, Jinho D; Dligach, Dmitriy; Nielsen, Rodney D; Martin, James; Ward, Wayne; Palmer, Martha; Savova, Guergana K

2013-01-01

Objective To create annotated clinical narratives with layers of syntactic and semantic labels to facilitate advances in clinical natural language processing (NLP). To develop NLP algorithms and open source components. Methods Manual annotation of a clinical narrative corpus of 127 606 tokens following the Treebank schema for syntactic information, PropBank schema for predicate-argument structures, and the Unified Medical Language System (UMLS) schema for semantic information. NLP components were developed. Results The final corpus consists of 13 091 sentences containing 1772 distinct predicate lemmas. Of the 766 newly created PropBank frames, 74 are verbs. There are 28 539 named entity (NE) annotations spread over 15 UMLS semantic groups, one UMLS semantic type, and the Person semantic category. The most frequent annotations belong to the UMLS semantic groups of Procedures (15.71%), Disorders (14.74%), Concepts and Ideas (15.10%), Anatomy (12.80%), Chemicals and Drugs (7.49%), and the UMLS semantic type of Sign or Symptom (12.46%). Inter-annotator agreement results: Treebank (0.926), PropBank (0.891–0.931), NE (0.697–0.750). The part-of-speech tagger, constituency parser, dependency parser, and semantic role labeler are built from the corpus and released open source. A significant limitation uncovered by this project is the need for the NLP community to develop a widely agreed-upon schema for the annotation of clinical concepts and their relations. Conclusions This project takes a foundational step towards bringing the field of clinical NLP up to par with NLP in the general domain. The corpus creation and NLP components provide a resource for research and application development that would have been previously impossible. PMID:23355458

Schema-based learning of adaptable and flexible prey- catching in anurans II. Learning after lesioning.

PubMed

Corbacho, Fernando; Nishikawa, Kiisa C; Weerasuriya, Ananda; Liaw, Jim-Shih; Arbib, Michael A

2005-12-01

The previous companion paper describes the initial (seed) schema architecture that gives rise to the observed prey-catching behavior. In this second paper in the series we describe the fundamental adaptive processes required during learning after lesioning. Following bilateral transections of the hypoglossal nerve, anurans lunge toward mealworms with no accompanying tongue or jaw movement. Nevertheless anurans with permanent hypoglossal transections eventually learn to catch their prey by first learning to open their mouth again and then lunging their body further and increasing their head angle. In this paper we present a new learning framework, called schema-based learning (SBL). SBL emphasizes the importance of the current existent structure (schemas), that defines a functioning system, for the incremental and autonomous construction of ever more complex structure to achieve ever more complex levels of functioning. We may rephrase this statement into the language of Schema Theory (Arbib 1992, for a comprehensive review) as the learning of new schemas based on the stock of current schemas. SBL emphasizes a fundamental principle of organization called coherence maximization, that deals with the maximization of congruence between the results of an interaction (external or internal) and the expectations generated for that interaction. A central hypothesis consists of the existence of a hierarchy of predictive internal models (predictive schemas) all over the control center-brain-of the agent. Hence, we will include predictive models in the perceptual, sensorimotor, and motor components of the autonomous agent architecture. We will then show that predictive models are fundamental for structural learning. In particular we will show how a system can learn a new structural component (augment the overall network topology) after being lesioned in order to recover (or even improve) its original functionality. Learning after lesioning is a special case of structural learning but clearly shows that solutions cannot be known/hardwired a priori since it cannot be known, in advance, which substructure is going to break down.

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

PubMed

Camats, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück, Christa E

2018-06-11

SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only. Most NR5A1 variants show in vitro pathogenic effects, but not when tested in heterozygote state together with wild-type NR5A1 as usually seen in patients. Thus, the genotype-phenotype correlation for NR5A1 variants remains an unsolved question. We analyzed heterozygous 46,XY SF-1/NR5A1 patients by whole exome sequencing and used an algorithm for data analysis based on selected project-specific DSD- and SF-1-related genes. The variants detected were evaluated for their significance in literature, databases and checked in silico using webtools. We identified 19 potentially deleterious variants (one to seven per patient) in 18 genes in four 46,XY DSD subjects carrying heterozygous NR5A1 disease-causing variants. We constructed a scheme of all these hits within the landscape of currently known genes involved in male sex determination and differentiation. Our results suggest that the broad phenotype in these heterozygous NR5A1 46,XY DSD subjects may well be explained by an oligogenic mode of inheritance, in which multiple hits, individually non-deleterious, may contribute to a DSD phenotype unique to each heterozygous SF-1/NR5A1 individual.

A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

PubMed

Swartz, Jonathan M; Ciarlo, Ryan; Guo, Michael H; Abrha, Aser; Weaver, Benjamin; Diamond, David A; Chan, Yee-Ming; Hirschhorn, Joel N

2017-01-01

A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation. © 2016 S. Karger AG, Basel.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

PubMed

Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

2014-06-01

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

Variability of the raindrop size distribution at small spatial scales

NASA Astrophysics Data System (ADS)

Berne, A.; Jaffrain, J.

2010-12-01

Because of the interactions between atmospheric turbulence and cloud microphysics, the raindrop size distribution (DSD) is strongly variable in space and time. The spatial variability of the DSD at small spatial scales (below a few km) is not well documented and not well understood, mainly because of a lack of adequate measurements at the appropriate resolutions. A network of 16 disdrometers (Parsivels) has been designed and set up over EPFL campus in Lausanne, Switzerland. This network covers a typical operational weather radar pixel of 1x1 km2. The question of the significance of the variability of the DSD at such small scales is relevant for radar remote sensing of rainfall because the DSD is often assumed to be uniform within a radar sample volume and because the Z-R relationships used to convert the measured radar reflectivity Z into rain rate R are usually derived from point measurements. Thanks to the number of disdrometers, it was possible to quantify the spatial variability of the DSD at the radar pixel scale and to show that it can be significant. In this contribution, we show that the variability of the total drop concentration, of the median volume diameter and of the rain rate are significant, taking into account the sampling uncertainty associated with disdrometer measurements. The influence of this variability on the Z-R relationship can be non-negligible. Finally, the spatial structure of the DSD is quantified using a geostatistical tool, the variogram, and indicates high spatial correlation within a radar pixel.

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.

PubMed

Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

2015-07-01

In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood.

Adaptive supervisory control of remote manipulation

NASA Technical Reports Server (NTRS)

Ferrell, W. R.

1977-01-01

The command language by which an operator exerts supervisory control over a general purpose remote manipulator should be designed to accommodate certain characteristics of human performance if there is to be effective communication between the operator and the machine. Some of the ways in which people formulate tasks, use language, learn and make errors are discussed and design implications are drawn. A general approach to command language design is suggested, based on the notion matching the operator's current task schema or context by appropriate program structures or 'frames' in the machine.

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

PubMed

Granados, Andrea; Alaniz, Veronica I; Mohnach, Lauren; Barseghyan, Hayk; Vilain, Eric; Ostrer, Harry; Quint, Elisabeth H; Chen, Ming; Keegan, Catherine E

2017-06-01

Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband. © 2017 Wiley Periodicals, Inc.

Dynamic structural disorder in supported nanoscale catalysts

NASA Astrophysics Data System (ADS)

Rehr, J. J.; Vila, F. D.

2014-04-01

We investigate the origin and physical effects of "dynamic structural disorder" (DSD) in supported nano-scale catalysts. DSD refers to the intrinsic fluctuating, inhomogeneous structure of such nano-scale systems. In contrast to bulk materials, nano-scale systems exhibit substantial fluctuations in structure, charge, temperature, and other quantities, as well as large surface effects. The DSD is driven largely by the stochastic librational motion of the center of mass and fluxional bonding at the nanoparticle surface due to thermal coupling with the substrate. Our approach for calculating and understanding DSD is based on a combination of real-time density functional theory/molecular dynamics simulations, transient coupled-oscillator models, and statistical mechanics. This approach treats thermal and dynamic effects over multiple time-scales, and includes bond-stretching and -bending vibrations, and transient tethering to the substrate at longer ps time-scales. Potential effects on the catalytic properties of these clusters are briefly explored. Model calculations of molecule-cluster interactions and molecular dissociation reaction paths are presented in which the reactant molecules are adsorbed on the surface of dynamically sampled clusters. This model suggests that DSD can affect both the prefactors and distribution of energy barriers in reaction rates, and thus can significantly affect catalytic activity at the nano-scale.

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

PubMed

Ahmed, S Faisal; Achermann, John C; Arlt, Wiebke; Balen, Adam; Conway, Gerry; Edwards, Zoe; Elford, Sue; Hughes, Ieuan A; Izatt, Louise; Krone, Nils; Miles, Harriet; O'Toole, Stuart; Perry, Les; Sanders, Caroline; Simmonds, Margaret; Watt, Andrew; Willis, Debbie

2016-05-01

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration. © 2015 John Wiley & Sons Ltd. Original manuscript © 2015 The Society for Endocrinology.

A Three-Parameter Inversion of the Drop Size Distribution Using NASA/TRMM Microwave Link Data

NASA Technical Reports Server (NTRS)

Rincon, Rafael F.; Lang, Roger H.; Meneghini, Robert

2003-01-01

Attenuation measurements at 25 and 38 GHz performed with the NASA/TRMM Microwave Link provide information about the drop size distribution (DSD) along the propagation path. Additional path-average measurements along the Link path, such as a third attenuation measurement or the rain rate from well-calibrated raingauges, can provide further DSD information. This paper explores an inversion procedure for determining simultaneously three parameters of a gamma DSD by using three measurements. Also, some preliminary results obtained using Link data are presented.

Measurements of DSD Second Moment Based on Laser Extinction

NASA Technical Reports Server (NTRS)

Lane, John E.; Jones, Linwood; Kasparis, Takis C.; Metzger, Philip

2013-01-01

Using a technique recently developed for estimating the density of surface dust dispersed during a rocket landing, measuring the extinction of a laser passing through rain (or dust in the rocket case) yields an estimate of the 2nd moment of the particle cloud, and rainfall drop size distribution (DSD) in the terrestrial meteorological case. With the exception of disdrometers, instruments that measure rainfall make in direct measurements of the DSD. Most common of these instruments are the rainfall rate gauge measuring the 1 1/3 th moment, (when using a D(exp 2/3) dependency on terminal velocity). Instruments that scatter microwaves off of hydrometeors, such as the WSR-880, vertical wind profilers, and microwave disdrometers, measure the 6th moment of the DSD. By projecting a laser onto a target, changes in brightness of the laser spot against the target background during rain, yield a measurement of the DSD 2nd moment, using the Beer-Lambert law. In order to detect the laser attenuation within the 8-bit resolution of most camera image arrays, a minimum path length is required, depending on the intensity of the rainfall rate. For moderate to heavy rainfall, a laser path length of 100 m is sufficient to measure variations in optical extinction using a digital camera. A photo-detector could replace the camera, for automated installations. In order to spatially correlate the 2nd moment measurements to a collocated disdrometer or tipping bucket, the laser's beam path can be reflected multiple times using mirrors to restrict the spatial extent of the measurement. In cases where a disdrometer is not available, complete DSD estimates can be produced by parametric fitting of DSD model to the 2nd moment data in conjunction with tipping bucket data. In cases where a disdrometer is collocated, the laser extinction technique may yield a significant improvement to insitu disdrometer validation and calibration strategies

Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

PubMed

Bennecke, Elena; Werner-Rosen, Knut; Thyen, Ute; Kleinemeier, Eva; Lux, Anke; Jürgensen, Martina; Grüters, Annette; Köhler, Birgit

2015-10-01

Disorders/diversity of sex development (dsd) is an umbrella term for congenital conditions often diagnosed within childhood. As most parents are unprepared for this situation, psychological support (PsySupp) is recommended. The aim of this study was to analyse the extent to which parents express a need for PsySupp. Three hundred twenty-nine parents of children with dsd were included; 40.4 % of the parents indicated to have a need for PsySupp, only 50 % of this group received it adequately. The diagnoses partial gonadal dysgenesis, partial androgen insensitivity syndrome (pAIS) and disorders of androgen synthesis are associated with a high need for PsySupp in parents (54, 65, and 50 %). Sex assignment surgery neither reduced nor increased the need for PsySupp. Taking a picture, radiography, laparoscopy, gonadal biopsy, gonadectomy and hormonal puberty induction are associated with a high need for PsySupp. There was no association between the need for PsySupp and the parents' perception of the appearance of the genitalia. Having a child with dsd is associated with a high need for PsySupp in parents. In particular, parents of children with XY-dsd with androgen effects other than hypospadias expressed a high need of PsySupp. PsySupp for parents should be an obligatory part of interdisciplinary care to reduce fears and concerns. What is known • In parents, having a child with dsd provokes insecurities and fears. Hence, psychological support is recommended as part of the interdisciplinary care. What is new • This is the first study investigating the subjective need for psychological support in a large sample of parents of children with dsd in Germany. We present data on the subjective need for psychological support of the parents, related diagnoses and factors, which should be considered in psychological counselling.

CytometryML, an XML format based on DICOM and FCS for analytical cytology data.

PubMed

Leif, Robert C; Leif, Suzanne B; Leif, Stephanie H

2003-07-01

Flow Cytometry Standard (FCS) was initially created to standardize the software researchers use to analyze, transmit, and store data produced by flow cytometers and sorters. Because of the clinical utility of flow cytometry, it is necessary to have a standard consistent with the requirements of medical regulatory agencies. We extended the existing mapping of FCS to the Digital Imaging and Communications in Medicine (DICOM) standard to include list-mode data produced by flow cytometry, laser scanning cytometry, and microscopic image cytometry. FCS list-mode was mapped to the DICOM Waveform Information Object. We created a collection of Extensible Markup Language (XML) schemas to express the DICOM analytical cytologic text-based data types except for large binary objects. We also developed a cytometry markup language, CytometryML, in an open environment subject to continuous peer review. The feasibility of expressing the data contained in FCS, including list-mode in DICOM, was demonstrated; and a preliminary mapping for list-mode data in the form of XML schemas and documents was completed. DICOM permitted the creation of indices that can be used to rapidly locate in a list-mode file the cells that are members of a subset. DICOM and its coding schemes for other medical standards can be represented by XML schemas, which can be combined with other relevant XML applications, such as Mathematical Markup Language (MathML). The use of XML format based on DICOM for analytical cytology met most of the previously specified requirements and appears capable of meeting the others; therefore, the present FCS should be retired and replaced by an open, XML-based, standard CytometryML. Copyright 2003 Wiley-Liss, Inc.

Development of clinical contents model markup language for electronic health records.

PubMed

Yun, Ji-Hyun; Ahn, Sun-Ju; Kim, Yoon

2012-09-01

To develop dedicated markup language for clinical contents models (CCM) to facilitate the active use of CCM in electronic health record systems. Based on analysis of the structure and characteristics of CCM in the clinical domain, we designed extensible markup language (XML) based CCM markup language (CCML) schema manually. CCML faithfully reflects CCM in both the syntactic and semantic aspects. As this language is based on XML, it can be expressed and processed in computer systems and can be used in a technology-neutral way. CCML HAS THE FOLLOWING STRENGTHS: it is machine-readable and highly human-readable, it does not require a dedicated parser, and it can be applied for existing electronic health record systems.

Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development.

PubMed

Schützmann, Karsten; Brinkmann, Lisa; Schacht, Melanie; Richter-Appelt, Hertha

2009-02-01

Evaluation of psychological distress has received relatively little attention in research on persons with disorders of sex development (DSD). Results of previous studies varied considerably, but most studies did not find increased levels of psychological distress. We conducted a pilot study based on a sample of 37 persons with diverse forms of DSD recruited via various strategies. The Brief Symptom Inventory (BSI) was used to assess self-reported psychological distress. Psychological distress varied broadly across all diagnostic subgroups. Overall, the BSI Global Severity Index indicated higher distress in the sample of persons with DSD compared to a non-clinical norm population of women, with an effect size of d = 0.67. According to predefined BSI criteria, 59% of participants were classified as a clinical case. Self-harming behavior and suicidal tendencies were also assessed and compared to a community based sample of women, including subgroups of traumatized women with a history of physical or sexual abuse. The prevalence rates of self-harming behavior and suicidal tendencies in the DSD sample exceeded the rates of the non-traumatized comparison subgroup, with rates comparable to the traumatized comparison groups of women with physical or sexual abuse. As possible explanations for the higher distress found here compared to most previous studies, differences in measures and sample recruitment are discussed. Our results suggest that adults with DSD are markedly psychologically distressed with rates of suicidal tendencies and self-harming behavior on a level comparable to non-DSD women with a history of physical or sexual abuse, but sample recruitment procedures do not permit a firm generalization.

Template construction grammar: from visual scene description to language comprehension and agrammatism.

PubMed

Barrès, Victor; Lee, Jinyong

2014-01-01

How does the language system coordinate with our visual system to yield flexible integration of linguistic, perceptual, and world-knowledge information when we communicate about the world we perceive? Schema theory is a computational framework that allows the simulation of perceptuo-motor coordination programs on the basis of known brain operating principles such as cooperative computation and distributed processing. We present first its application to a model of language production, SemRep/TCG, which combines a semantic representation of visual scenes (SemRep) with Template Construction Grammar (TCG) as a means to generate verbal descriptions of a scene from its associated SemRep graph. SemRep/TCG combines the neurocomputational framework of schema theory with the representational format of construction grammar in a model linking eye-tracking data to visual scene descriptions. We then offer a conceptual extension of TCG to include language comprehension and address data on the role of both world knowledge and grammatical semantics in the comprehension performances of agrammatic aphasic patients. This extension introduces a distinction between heavy and light semantics. The TCG model of language comprehension offers a computational framework to quantitatively analyze the distributed dynamics of language processes, focusing on the interactions between grammatical, world knowledge, and visual information. In particular, it reveals interesting implications for the understanding of the various patterns of comprehension performances of agrammatic aphasics measured using sentence-picture matching tasks. This new step in the life cycle of the model serves as a basis for exploring the specific challenges that neurolinguistic computational modeling poses to the neuroinformatics community.

E&V Guidebook, Version 1.1

DTIC Science & Technology

1989-08-15

checklist 14.1] Chapter 3, Language-related issues, extracts from the Ada language reference manua! [,_D 1982] those features exp!icitly a!owcd to vay...welcome. Please send comments electronically (preferred) to szymansk~aja;po.sei.cmu.edu, or by regular mail to Mr. Raymond Szymanski , AFWAL/AAAF, Wright...of Tool Features for the Ada Programming Support Environment (APSE) 4-3 4.3 E&V Report: DoD APSE Analysis 4-4 4.4 Classification Schema/E&V Taxonomy

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

PubMed

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-10-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

PubMed Central

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-01-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.

PubMed

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, Rinus

2017-01-01

To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3-9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD. © 2017 S. Karger AG, Basel.

Radar volume reflectivity estimation using an array of ground-based rainfall drop size detectors

NASA Astrophysics Data System (ADS)

Lane, John; Merceret, Francis; Kasparis, Takis; Roy, D.; Muller, Brad; Jones, W. Linwood

2000-08-01

Rainfall drop size distribution (DSD) measurements made by single disdrometers at isolated ground sites have traditionally been used to estimate the transformation between weather radar reflectivity Z and rainfall rate R. Despite the immense disparity in sampling geometries, the resulting Z-R relation obtained by these single point measurements has historically been important in the study of applied radar meteorology. Simultaneous DSD measurements made at several ground sites within a microscale area may be used to improve the estimate of radar reflectivity in the air volume surrounding the disdrometer array. By applying the equations of motion for non-interacting hydrometers, a volume estimate of Z is obtained from the array of ground based disdrometers by first calculating a 3D drop size distribution. The 3D-DSD model assumes that only gravity and terminal velocity due to atmospheric drag within the sampling volume influence hydrometer dynamics. The sampling volume is characterized by wind velocities, which are input parameters to the 3D-DSD model, composed of vertical and horizontal components. Reflectivity data from four consecutive WSR-88D volume scans, acquired during a thunderstorm near Melbourne, FL on June 1, 1997, are compared to data processed using the 3D-DSD model and data form three ground based disdrometers of a microscale array.

Promoting Shared Decision Making in Disorders of Sex Development (DSD): Decision Aids and Support Tools.

PubMed

Siminoff, L A; Sandberg, D E

2015-05-01

Specific complaints and grievances from adult patients with disorders of sex development (DSD), and their advocates center around the lack of information or misinformation they were given about their condition and feeling stigmatized and shamed by the secrecy surrounding their condition and its management. Many also attribute poor sexual function to damaging genital surgery and/or repeated, insensitive genital examinations. These reports suggest the need to reconsider the decision-making process for the treatment of children born with DSD. This paper proposes that shared decision making, an important concept in adult health care, be operationalized for the major decisions commonly encountered in DSD care and facilitated through the utilization of decision aids and support tools. This approach may help patients and their families make informed decisions that are better aligned with their personal values and goals. It may also lead to greater confidence in decision making with greater satisfaction and less regret. A brief review of the past and current approach to DSD decision making is provided, along with a review of shared decision making and decision aids and support tools. A case study explores the need and potential utility of this suggested new approach. © Georg Thieme Verlag KG Stuttgart · New York.

Future fertility for individuals with differences of sex development: Parent attitudes and perspectives about decision-making.

PubMed

Johnson, Emilie K; Rosoklija, Ilina; Shurba, Angela; D'Oro, Anthony; Gordon, Elisa J; Chen, Diane; Finlayson, Courtney; Holl, Jane L

2017-08-01

Children, adolescents, and young adults (children/youth) with differences/disorders of sex development (DSD) face challenges related to future fertility; this may be due to variations in gonadal development, and, for some, gonadectomy performed to reduce the risk of malignancy. Childhood may be the only time for preservation of biological fertility potential for children/youth who undergo gonadectomy or have early gonadal failure. Fertility-related decision-making for these patients is particularly complicated, due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies. This study aimed to assess: (1) attitudes regarding future fertility, and (2) healthcare needs for fertility-related decision-making among parents of children/youth with DSD. Semi-structured qualitative interviews about future fertility were conducted with parents of children/youth with DSD. Parents who had never discussed fertility with a healthcare provider were excluded. Grounded theory methodology was used to identify emergent themes and patterns. Demographics and clinical characteristics were assessed via survey and medical chart review. Nineteen parents were interviewed (participation rate: 60%, 14 mothers/5 fathers, median patient age at diagnosis 6 months (range 0-192), eight DSD diagnoses). The most common emergent themes are summarized in the Summary Table. Most parents identified fertility as a key concern, both at time of diagnosis and throughout development. Parents expressed difficulty with timing of disclosure about potential infertility to their children. Multiple preferences related to medical decision-making about future fertility and fertility preservation were expressed, including: a desire for step-by-step decision-making, and use of medically vetted information and research to guide decisions. This qualitative study provided new information about the perspectives of parents of children/youth with DSD regarding future fertility. Previous studies have suggested that the possibility of biological parenthood is important to many individuals with DSD. This study provided an in-depth parental perspective. This is important because many decisions that affect future fertility are made in childhood, and require parents to make decisions on behalf of their children. The study sample was limited in its geographic diversity. Strengths of the study included diversity in age of the child/youth, ethnic backgrounds, and the DSD diagnoses that were represented. Future fertility was a concern for many parents of children/youth with DSD. Parents expressed multiple priorities and preferences related to making difficult fertility-related medical decisions for their children. Many of the study findings could be incorporated into future best practices for discussions about fertility with families of children/youth with DSD. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Implications of Evidence-Centered Design for Educational Testing

ERIC Educational Resources Information Center

Mislevy, Robert J.; Haertel, Geneva D.

2006-01-01

Evidence-centered assessment design (ECD) provides language, concepts, and knowledge representations for designing and delivering educational assessments, all organized around the evidentiary argument an assessment is meant to embody. This article describes ECD in terms of layers for analyzing domains, laying out arguments, creating schemas for…

Frequency and distribution of primary site among gender minority cancer patients: An analysis of U.S. national surveillance data.

PubMed

Nash, Rebecca; Ward, Kevin C; Jemal, Ahmedin; Sandberg, David E; Tangpricha, Vin; Goodman, Michael

2018-03-09

Transgender people and persons with disorders of sex development (DSD) are two separate categories of gender minorities, each characterized by unique cancer risk factors. Although cancer registry data typically include only two categories of sex, registrars have the option of indicating that a patient is transgender or has a DSD. Data for primary cancer cases in 46 states and the District of Columbia were obtained from the North American Association of Central Cancer Registries (NAACCR) database for the period 1995-2013. The distributions of primary sites and categories of cancers with shared risk factors were examined separately for transgender and DSD patients and compared to the corresponding distributions in male and female cancer patients. Proportional incidence ratios were calculated by dividing the number of observed cases by the number of expected cases. Expected cases were calculated based on the age- and year of diagnosis-specific proportions of cases in each cancer category observed among male and female patients. Transgender patients have significantly elevated proportional incidence ratios (95% confidence intervals) for viral infection induced cancers compared to either males (2.3; 2.0-2.7) or females (3.3; 2.8-3.7). Adult DSD cancer patients have a similar distribution of primary sites compared to male or female patients but DSD children with cancer have ten times more cases of testicular malignancies than expected (95% confidence interval: 4.7-20). The proportions of certain primary sites and categories of malignancies among transgender and DSD cancer patients are different from the proportions observed for male or female patients. Copyright © 2018 Elsevier Ltd. All rights reserved.

Retrieving Vertical Air Motion and Raindrop Size Distributions from Vertically Pointing Doppler Radars

NASA Astrophysics Data System (ADS)

Williams, C. R.; Chandra, C. V.

2017-12-01

The vertical evolution of falling raindrops is a result of evaporation, breakup, and coalescence acting upon those raindrops. Computing these processes using vertically pointing radar observations is a two-step process. First, the raindrop size distribution (DSD) and vertical air motion need to be estimated throughout the rain shaft. Then, the changes in DSD properties need to be quantified as a function of height. The change in liquid water content is a measure of evaporation, and the change in raindrop number concentration and size are indicators of net breakup or coalescence in the vertical column. The DSD and air motion can be retrieved using observations from two vertically pointing radars operating side-by-side and at two different wavelengths. While both radars are observing the same raindrop distribution, they measure different reflectivity and radial velocities due to Rayleigh and Mie scattering properties. As long as raindrops with diameters greater than approximately 2 mm are in the radar pulse volumes, the Rayleigh and Mie scattering signatures are unique enough to estimate DSD parameters using radars operating at 3- and 35-GHz (Williams et al. 2016). Vertical decomposition diagrams (Williams 2016) are used to explore the processes acting on the raindrops. Specifically, changes in liquid water content with height quantify evaporation or accretion. When the raindrops are not evaporating, net raindrop breakup and coalescence are identified by changes in the total number of raindrops and changes in the DSD effective shape as the raindrops. This presentation will focus on describing the DSD and air motion retrieval method using vertical profiling radar observations from the Department of Energy (DOE) Atmospheric Radiation Measurement (ARM) Southern Great Plains (SGP) central facility in Northern Oklahoma.

Development of Clinical Contents Model Markup Language for Electronic Health Records

PubMed Central

Yun, Ji-Hyun; Kim, Yoon

2012-01-01

Objectives To develop dedicated markup language for clinical contents models (CCM) to facilitate the active use of CCM in electronic health record systems. Methods Based on analysis of the structure and characteristics of CCM in the clinical domain, we designed extensible markup language (XML) based CCM markup language (CCML) schema manually. Results CCML faithfully reflects CCM in both the syntactic and semantic aspects. As this language is based on XML, it can be expressed and processed in computer systems and can be used in a technology-neutral way. Conclusions CCML has the following strengths: it is machine-readable and highly human-readable, it does not require a dedicated parser, and it can be applied for existing electronic health record systems. PMID:23115739

Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.

PubMed

Rawal, Amar Y; Austin, Paul F

2015-12-01

Our understanding of disorders of sexual differentiation (DSD) has evolved from aberrations of human genital development to a broad group of complex disorders of etiological and functional significance. The unique challenge of DSD conditions is that they create a cause for significant angst and concern for both parents and physician, as they frequently lead to questions with regards to gender assignment, surgically corrective options, long-term outlook regarding gender identity, and reproductive potential. To further add to the burden, many patients who present with genital abnormalities do not have a clear explanation as to the underlying basis of their disorder. This review looks at DSD from a pediatric urology point of view with emphasis on evaluation, diagnosis, and algorithm for work-up. We also discuss novel genetic analysis techniques and their value in diagnosis. Overall, this is an all-encompassing review on a diagnostic approach to DSD, with inclusion of recent developments and controversies, which will benefit urologists and other physicians alike.

Parenting Children with Disorders of Sex Development (DSD): A Developmental Perspective Beyond Gender.

PubMed

Wisniewski, A B; Sandberg, D E

2015-05-01

Advances in therapeutics for specific conditions have contributed to a categorical psychological approach to chronic diseases that affect children. Consensus statements and clinical guidelines recognize stress associated with disorders of sex development (DSD) for patients and their caregivers - yet much remains to be learned concerning the social adjustment, mental health, and quality of life of affected children and their families. We present preliminary data on the psychosocial comorbidities of caregivers of children with DSD, including stigma, isolation, stress, anxiety, and depressive symptomatology. Evidence is offered in support of individualized psychological approaches for families according to such variables as: 1) gender of the caregiver, 2) gender of the affected child and 3) presence of genital ambiguity at birth. Development of feasible, targeted interventions to ameliorate psychosocial comorbidities among caregivers is needed to optimize social adjustment, mental health, and health-related quality of life (HRQoL) for children with DSD. © Georg Thieme Verlag KG Stuttgart · New York.

MO/DSD online information server and global information repository access

NASA Technical Reports Server (NTRS)

Nguyen, Diem; Ghaffarian, Kam; Hogie, Keith; Mackey, William

1994-01-01

Often in the past, standards and new technology information have been available only in hardcopy form, with reproduction and mailing costs proving rather significant. In light of NASA's current budget constraints and in the interest of efficient communications, the Mission Operations and Data Systems Directorate (MO&DSD) New Technology and Data Standards Office recognizes the need for an online information server (OLIS). This server would allow: (1) dissemination of standards and new technology information throughout the Directorate more quickly and economically; (2) online browsing and retrieval of documents that have been published for and by MO&DSD; and (3) searching for current and past study activities on related topics within NASA before issuing a task. This paper explores a variety of available information servers and searching tools, their current capabilities and limitations, and the application of these tools to MO&DSD. Most importantly, the discussion focuses on the way this concept could be easily applied toward improving dissemination of standards and new technologies and improving documentation processes.

TESTOSTERONE AND SPORT: CURRENT PERSPECTIVES

PubMed Central

Wood, Ruth I.; Stanton, Steven J.

2011-01-01

Testosterone and other anabolic-androgenic steroids enhance athletic performance in men and women. As a result, exogenous androgen is banned from most competitive sports. However, due to variability in endogenous secretion, and similarities with exogenous testosterone, it has been challenging to establish allowable limits for testosterone in competition. Endogenous androgen production is dynamically regulated by both exercise and winning in competition. Furthermore, testosterone may promote athletic performance, not only through its long-term anabolic actions, but also through rapid effects on behavior. In women, excess production of endogenous testosterone due to inborn disorders of sexual development (DSD) may convey a competitive advantage. For many years, female competitors have been subject to tests of sexual genotype and phenotype known as gender verification. Although gender verification has not identified any normal man competing as a woman, this process has identified women athletes with DSD. As understanding of DSD has expanded in recent years, women with DSD are increasingly able to continue athletic competition. PMID:21983229

Of Mice and Media

ERIC Educational Resources Information Center

Day, John

2010-01-01

Implementing multimedia in the high school language arts curriculum has become necessary so that teachers may build connections between the background knowledge of students and the printed texts that are thrust upon them. This idea comes from an area of research in cognitive science known commonly as schema theory, which contends that every…

Deflating the "Confucian Heritage Culture" Thesis in Intercultural and Academic English Education

ERIC Educational Resources Information Center

O'Dwyer, Shaun

2017-01-01

This paper develops an interdisciplinary critical perspective on the concept of "Confucian Heritage Cultures" (CHC), used in intercultural and English language teaching theory to explain the supposed culturally distinct learning habits, expectations and schemas many Asian students bring to academic classrooms in English-speaking…

Fighting Baddies and Collecting Bananas: Teachers' Perceptions of Games-Based Literacy Learning

ERIC Educational Resources Information Center

Gerber, Hannah R.; Price, Debra P.

2013-01-01

This paper discusses how practicing teachers conceptualize commercial off the shelf (COTS) videogames within classroom-based English language arts instruction. Understanding how today's teachers perceive virtual worlds and videogames as an instructional tool for schema building within literacy development will help researchers better understand…

Reading Comprehension II. Bibliographies and Summaries of Selected Articles. Volume 6. Research Review Series.

ERIC Educational Resources Information Center

MacGinitie, Walter H.; And Others

Summaries of several papers are presented to develop a working theoretical analysis of reading comprehension and an understanding of development in language comprehension based upon empirical studies. Contributions from the areas of assessment, artificial intelligence, cognition (including schema theory), instruction, linguistics, learning…

TAPRegExt: a VOResource Schema Extension for Describing TAP Services Version 1.0

NASA Astrophysics Data System (ADS)

Demleitner, Markus; Dowler, Patrick; Plante, Ray; Rixon, Guy; Taylor, Mark; Demleitner, Markus

2012-08-01

This document describes an XML encoding standard for metadata about services implementing the table access protocol TAP [TAP], referred to as TAPRegExt. Instance documents are part of the service's registry record or can be obtained from the service itself. They deliver information to both humans and software on the languages, output formats, and upload methods supported by the service, as well as data models implemented by the exposed tables, optional language features, and certain limits enforced by the service.

Preservation of Fertility Potential for Gender and Sex Diverse Individuals.

PubMed

Johnson, Emilie K; Finlayson, Courtney

2016-01-01

Gender and sex diverse individuals-transgender individuals and those with disorders of sex development (DSD)-both face medical treatments that may impair biological fertility potential. Young DSD patients also often have abnormal gonadal development. Fertility preservation for these populations has historically been poorly understood and rarely addressed. Future fertility should be discussed with gender and sex diverse individuals, particularly given recent advances in fertility preservation technologies and evolving views of fertility potential. Key ethical issues include parental proxy decision-making and uncertainty regarding prepubertal fertility preservation technologies. Many opportunities exist for advancing fertility-related care and research for transgender and DSD patients.

Analysis of the moments and parameters of a gamma DSD to infer precipitation properties: A convective stratiform discrimination algorithm

NASA Astrophysics Data System (ADS)

Caracciolo, C.; Prodi, F.; Battaglia, A.; Porcu', F.

2006-05-01

Drop size distribution is a fundamental property of rainfall for two main reasons: the shape of the distribution reflects the physics of rain formation processes, and it is of basic importance in determining most parameters used in radar-meteorology. Therefore, several authors have proposed in the past different parameterizations for the drop size distribution (DSD). The present work focuses attention on the gamma DSD properties, assumed to be the most suitable for describing the observed DSD and its variability. The data set comprises about 3 years of data (2001-2004) for about 1900 min of rain, collected in Ferrara in the Po Valley (Northern Italy) by a Joss and Waldvogel (JW) disdrometer. A new method of moments to determine the three gamma DSD parameters is developed and tested; this method involves the fourth, fifth and sixth moments of the DSD, which are less sensitive to the underestimation of small drops in the JW disdrometer. The method has been validated by comparing the observed rainfall rates with the computed ones from the fitted distribution, using two classical expressions for the hydrometeor terminal velocity. The 1-min observed spectra of some representative events that occurred in Ferrara are also presented, showing that with sufficient averaging, the distribution for the Ferrara rainfall can be approximately described by a gamma distribution. The discrimination of convective and stratiform precipitation is also an issue of intense interest. Over the past years, several works have aimed to discriminate between these two precipitation categories, on the basis of different instruments and techniques. The knowledge of the three gamma DSD parameters computed with the new method of moments is exploited to identify some characteristic parameters that give quantitative and useful information on the precipitation type and intensity. First, a key parameter derived from the knowledge of two gamma DSD parameters ( m and Λ), the peak (or modal) diameter Dp, defined as m/ Λ, is identified. A theoretical relationship between the m and Λ parameters is successively derived, conducing to a new convective/stratiform discrimination algorithm: in an m- Λ plot the line (1.635 Λ- m) = 1 can be considered as the discriminator; the stratiform events fall in the upper part, the convective ones in the lower. A classical tropical oceanic convective/stratiform discrimination algorithm is also tested, showing that it is not suitable to correctly discriminate the mid-latitude precipitations analyzed here.

Simultaneous determination of 11 fluorescent whitening agents in food-contact paper and board by ion-pairing high-performance liquid chromatography with fluorescence detection.

PubMed

Jiang, Dingguo; Chen, Lisong; Fu, Wusheng; Qiu, Hanquan

2015-02-01

4,4'-Diaminostilbene-2,2'-disulfonic acid based fluorescent whitening agents (DSD-FWAs) are prohibited in food-contact paper and board in many countries. In this work, a reliable high-performance liquid chromatography method was developed for the simultaneous determination of 11 common DSD-FWAs in paper material. Sample preparation and extraction as well as chromatographic separation of multicomponent DSD-FWAs were successfully optimized. DSD-FWAs in prepared samples were ultrasonically extracted with acetonitrile/water/triethylamine (40:60:1, v/v/v), separated on the C(18) column with the mobile phase containing tetrabutylammonium bromide, and then detected by a fluorescence detector. The limits of detection were 0.12-0.24 mg/kg, and the calibration curves showed the linear correlation (R(2) ≥ 0.9994) within the range of 8.0-100 ng/mL, which was equivalent to the range of 0.80-10 mg/kg in the sample. The average recoveries and the RSDs were 81-106% and 2-9% at two fortification levels (1.0 and 5.0 mg/kg) in paper bowls, respectively. The successful determination of 11 DSD-FWAs in food-contact paper and board obtained from local markets indicated that the newly developed method was rapid, accurate, and highly selective. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Issues and solutions for storage, retrieval, and searching of MPEG-7 documents

NASA Astrophysics Data System (ADS)

Chang, Yuan-Chi; Lo, Ming-Ling; Smith, John R.

2000-10-01

The ongoing MPEG-7 standardization activity aims at creating a standard for describing multimedia content in order to facilitate the interpretation of the associated information content. Attempting to address a broad range of applications, MPEG-7 has defined a flexible framework consisting of Descriptors, Description Schemes, and Description Definition Language. Descriptors and Description Schemes describe features, structure and semantics of multimedia objects. They are written in the Description Definition Language (DDL). In the most recent revision, DDL applies XML (Extensible Markup Language) Schema with MPEG-7 extensions. DDL has constructs that support inclusion, inheritance, reference, enumeration, choice, sequence, and abstract type of Description Schemes and Descriptors. In order to enable multimedia systems to use MPEG-7, a number of important problems in storing, retrieving and searching MPEG-7 documents need to be solved. This paper reports on initial finding on issues and solutions of storing and accessing MPEG-7 documents. In particular, we discuss the benefits of using a virtual document management framework based on XML Access Server (XAS) in order to bridge the MPEG-7 multimedia applications and database systems. The need arises partly because MPEG-7 descriptions need customized storage schema, indexing and search engines. We also discuss issues arising in managing dependence and cross-description scheme search.

Understanding a technical language: A schema-based approach

NASA Technical Reports Server (NTRS)

Falzon, P.

1984-01-01

Workers in many job categories tend to develop technical languages, which are restricted subjects of natural language. A better knowledge of these retrictions provides guidelines for the design of the restricted languages of interactive systems. Accordingly, a technical language used by air-traffic controllers in their communications with pilots was studied. A method of analysis is presented that allows the schemata underlying each category of messages to be identified. This schematic knowledge was implemented in programs, which assume that the goal-oriented aspect of technical languages (and particularly the restricted domain of discourse) limits the processes and the data necessary in order to understand the messages (monosemy, limited vocabulary, evocation of the schemata by some command words, absence of syntax). The programs can interpret, and translate into sequences of action, the messages emitted by the controllers.

Understand Schema, Understand Difference

ERIC Educational Resources Information Center

Green, Bonnie A.

2010-01-01

In decades past, children entered into classrooms that were less diverse. They all came in knowing much of the same information, having had very similar experiences. They spoke the same language, ate the same food, and heard the same stories and music. In many case, they even knew each other. This group of less diverse students stayed less diverse…

Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development.

PubMed

Meyer-Bahlburg, Heino F L

2011-10-01

Individuals born with a somatic disorder of sex development (DSD) have high rates of gender-atypical behavior, gender uncertainty, gender dysphoria, and patient-initiated gender change in childhood, adolescence,and adulthood. This article addresses the issues a mental health services provider has to consider in evaluating and assisting such patients and provides examples of assessment-method batteries. To date, the World Professional Association for Transgender Health's Standards of Care, 6th version, for non-DSD patients with gender dysphoria, may be cautiously used for guidance, taking into account the considerable differences in presentation and medical context between gender dysphoric patients with and without a DSD.

Consistent Measurement and Physical Character of the DSD: Disdrometer to Satellite

NASA Technical Reports Server (NTRS)

Petersen, Walt; Thurai, Merhala; Gatlin, Patrick; Tokay, Ali; Morris, Bob; Wolff, David; Pippitt, Jason; Marks, David; Berendes, Todd

2017-01-01

Objective: Validate GPM (Global Precipitation Measurement) Drop Size Distribution Retrievals: Drop size distributions (DSD) are critical to GPM DPR (Dual-frequency Precipitation Radar)-based rainfall retrievals; NASA GPM Science Requirements stipulate that the GPM Core observatory radar estimation of D (sub m) (mean diameter) shall be within plus or minus 0.5 millimeters of GV (Ground Validation); GV translates disdrometer measurements to polarimetric radar-based DSD and precipitation type retrievals (e.g., convective vs. stratiform (C/S)) for coincident match-up to GPM core overpasses; How well do we meet the requirement across product versions, rain types (e.g., C/S partitioning), and rain rates (heavy, light) and is behavior physically and internally consistent?

The MP (Materialization Pattern) Model for Representing Math Educational Standards

NASA Astrophysics Data System (ADS)

Choi, Namyoun; Song, Il-Yeol; An, Yuan

Representing natural languages with UML has been an important research issue for various reasons. Little work has been done for modeling imperative mood sentences which are the sentence structure of math educational standard statements. In this paper, we propose the MP (Materialization Pattern) model that captures the semantics of English sentences used in math educational standards. The MP model is based on the Reed-Kellogg sentence diagrams and creates MP schemas with the UML notation. The MP model explicitly represents the semantics of the sentences by extracting math concepts and the cognitive process of math concepts from math educational standard statements, and simplifies modeling. This MP model is also developed to be used for aligning math educational standard statements via schema matching.

21st International Conference on DNA Computing and Molecular Programming

DTIC Science & Technology

2016-05-24

ratio [24], which allows plants to ration starch reserves during seasonally changing nights . 28 N. Dalchau et al. We specify the division problem...design of leak- resistant DSD systems. T his motif forms t he basis of a number of DSD schemes t hat do not rely on toehold sequestration alone to prevent

ACTIVATION OF A CRYPTIC D-SERINE DEAMINASE (DSD) GENE FROM PSEUDOMONAS CEPACIA 17616

EPA Science Inventory

D-serine inhibits growth of P. cepacia 17616; however, resistant mutants able to express an ordinarily cryptic D-serine deaminase (dsd) gene were isolated readily. The resistant strains formed high levels of a D-serine deaminase active on D-threonine as well as D-serine. IS eleme...

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network

PubMed Central

Eid, Wassim; Opitz, Lennart

2015-01-01

Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransferase identification technique. We identified close to 1600 direct targets for CBX2. Intriguingly, validation of selected candidate genes using qRT-PCR in cells overexpressing CBX2 or in which CBX2 has been knocked down indicated that several CBX2-responsive genes encode proteins that are involved in DSD. We further validated these effects on the candidate genes using a mutated CBX2 causing DSD in human patient. Overall, our findings suggest that CBX2 role in the sex development cascade is to stimulate the male pathway and concurrently inhibit the female pathway. These data provide fundamental insights into potential etiology of DSD. PMID:25569159

Exploring stakeholder experiences of interprofessional teamwork in sex development outpatient clinics.

PubMed

Sanders, Caroline; Edwards, Zoe; Keegan, Kimberley

2017-05-01

Adopting an interprofessional team approach to care of the child with rare conditions that can affect sex development (DSD) has been advocated by a consensus document within the last decade. In the United Kingdom, the approach appears orientated towards an interprofessional model with the integration of separate professions working in single consultations with families working collaboratively to focus on care using a person and family-centred lens. This concurrent mixed-methods UK study using questionnaires, observation, and interviews aimed to examine professionals', patients', and parents' expectations and interactions during DSD clinic. In adapting a model of patient and family-centred care, we were able to analyse the dimensions of care at the micro-, meso-, and macro-level. The micro captured the unique nature of the bio-psychosocial aspects of DSD, professional capabilities, and communication. The meso examined shared learning and objective setting as well as aspects of knowledge translation. The macro focused on the operational aspects and the emancipatory knowing embedded within DSD care. Complete data from participants (n = 105) were analysed from 47 outpatient clinical consultations and are reported as numerical data, tables, and participants' voices. Interestingly, all participants identified topics or concerns that were absent in the dialogues during consultation. Our findings informed the adaptation of a patient-focused model, thereby supporting the development of the concept of patient-centeredness, integration, and collaboration. This framework may serve as a platform, embedding existing evaluative tools and acknowledging the patient and professional partnership necessary in DSD care.

The active structure of the Dead Sea depression

NASA Astrophysics Data System (ADS)

Shamir, G.

2003-04-01

The ~220km long gravitational and structural Dead Sea Depression (DSD), situated along the southern section of the Dead Sea Transform (DST), is centered by the Dead Sea basin sensu strictu (DSB), which has been described since the 1960?s as a pull-apart basin over a presumed left-hand fault step. However, several observations, or their lack thereof, question this scheme, e.g. (i) It is not supported by recent seismological and geomorphic data; (ii) It does not explain the fault pattern and mixed sinistral and dextral offset along the DSB western boundary; (iii) It does not simply explain the presence of intense deformation outside the presumed fault step zone; (iv) It is inconsistent with the orientation of seismically active faults within the Dead Sea and Jericho Valley; (v); It is apparently inconsistent with the symmetrical structure of the DSD; (vi) The length of the DSB exceeds the total offset along the Dead Sea Transform, while its subsidence is about the age of the DST. Integration of newly acquired and analyzed data (high resolution and petroleum seismic reflection data, earthquake relocation and fault plane solutions) with previously published data (structural mapping, fracture orientation distribution, Bouguer anomaly maps, sinkhole distribution, geomorphic lineaments) now shows that the active upper crustal manifestation of the DSD is a broad shear zone dominated by internal fault systems oriented NNE and NNW. These fault systems are identified by earthquake activity, seismic reflection observations, alignment of recent sinkholes, and distribution of Bouguer anomaly gradients. Motion on the NNE system is normal-dextral, suggesting that counterclockwise rotation may have taken place within the shear zone. The overall sinistral motion between the Arabian and Israel-Sinai plates along the DSD is thus accommodated by distributed shear across the N-S extending DSD. The three-dimensionality of this motion at the DSD may be related to the rate of convergence between the two plates.

Renaissance architecture for Ground Data Systems

NASA Technical Reports Server (NTRS)

Perkins, Dorothy C.; Zeigenfuss, Lawrence B.

1994-01-01

The Mission Operations and Data Systems Directorate (MO&DSD) has embarked on a new approach for developing and operating Ground Data Systems (GDS) for flight mission support. This approach is driven by the goals of minimizing cost and maximizing customer satisfaction. Achievement of these goals is realized through the use of a standard set of capabilities which can be modified to meet specific user needs. This approach, which is called the Renaissance architecture, stresses the engineering of integrated systems, based upon workstation/local area network (LAN)/fileserver technology and reusable hardware and software components called 'building blocks.' These building blocks are integrated with mission specific capabilities to build the GDS for each individual mission. The building block approach is key to the reduction of development costs and schedules. Also, the Renaissance approach allows the integration of GDS functions that were previously provided via separate multi-mission facilities. With the Renaissance architecture, the GDS can be developed by the MO&DSD or all, or part, of the GDS can be operated by the user at their facility. Flexibility in operation configuration allows both selection of a cost-effective operations approach and the capability for customizing operations to user needs. Thus the focus of the MO&DSD is shifted from operating systems that we have built to building systems and, optionally, operations as separate services. Renaissance is actually a continuous process. Both the building blocks and the system architecture will evolve as user needs and technology change. Providing GDS on a per user basis enables this continuous refinement of the development process and product and allows the MO&DSD to remain a customer-focused organization. This paper will present the activities and results of the MO&DSD initial efforts toward the establishment of the Renaissance approach for the development of GDS, with a particular focus on both the technical and process implications posed by Renaissance to the MO&DSD.

Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY Disorders of Sex Development and Premature Ovarian Failure

PubMed Central

Harrison, Steven M.; Campbell, Ian M.; Keays, Melise; Granberg, Candace F.; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R.; Castrillon, Diego H.; Shaw, Chad A.; Stankiewicz, Paweł; Baker, Linda A.

2013-01-01

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. Previous reports have identified four families with a history of both 46,XY DSD and 46,XX POF carrying segregating NR5A1 sequence mutations. Recently, three 46,XY DSD sporadic cases with NR5A1 microdeletions have been reported. Here, we identify the first NR5A1 microdeletion transmitted in a pedigree with both 46,XY DSD and 46,XX POF. A 46,XY individual with DSD due to gonadal dysgenesis was born to a young mother who developed POF. Array CGH analysis revealed a maternally inherited 0.23 Mb microdeletion of chromosome 9q33.3, including the NR5A1 gene. Based on this finding, we screened patients with unexplained 46,XY DSD (n=11), proximal hypospadias (n=21) and 46,XX POF (n=36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. These data suggest that NR5A1 CNVs are an infrequent cause of these disorders but that array CGH and MLPA are useful genomic screening tools to uncover the genetic basis of such unexplained cases. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. PMID:23918653

Computer systems and methods for the query and visualization of multidimensional databases

DOEpatents

Stolte, Chris; Tang, Diane L.; Hanrahan, Patrick

2006-08-08

A method and system for producing graphics. A hierarchical structure of a database is determined. A visual table, comprising a plurality of panes, is constructed by providing a specification that is in a language based on the hierarchical structure of the database. In some cases, this language can include fields that are in the database schema. The database is queried to retrieve a set of tuples in accordance with the specification. A subset of the set of tuples is associated with a pane in the plurality of panes.

Computer systems and methods for the query and visualization of multidimensional database

DOEpatents

Stolte, Chris; Tang, Diane L.; Hanrahan, Patrick

2010-05-11

A method and system for producing graphics. A hierarchical structure of a database is determined. A visual table, comprising a plurality of panes, is constructed by providing a specification that is in a language based on the hierarchical structure of the database. In some cases, this language can include fields that are in the database schema. The database is queried to retrieve a set of tuples in accordance with the specification. A subset of the set of tuples is associated with a pane in the plurality of panes.

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

PubMed Central

Bashamboo, A.; Ledig, S.; Wieacker, P.; Achermann, J.; McElreavey, K.

2010-01-01

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD. PMID:20820110

Clinical Management of Gender in Egypt: Intersexuality and Transsexualism.

PubMed

Mazen, Inas A

2017-02-01

This article reviews the literature on intersexuality (disorders of sex development [DSD]) and transsexuality in Egypt. Egypt's resources for the diagnosis and treatment of rare conditions, such as DSD and transsexualism, are quite limited. The birth of a child with a DSD is likely to be stressful, especially in regard to decisions on gender assignment, and genital abnormalities are associated with stigma and shame. Gender assignment may be biased toward the male gender, because female infertility precludes marriage and female gender adversely affects employment prospects and inheritance. Later gender change in either direction may also carry stigma. Gender reassignment surgery for transsexuals without somatic intersexuality was legalized in Egypt in 2005, but requires permission by a national Sex Identification and Determination Committee.

Processing sequence annotation data using the Lua programming language.

PubMed

Ueno, Yutaka; Arita, Masanori; Kumagai, Toshitaka; Asai, Kiyoshi

2003-01-01

The data processing language in a graphical software tool that manages sequence annotation data from genome databases should provide flexible functions for the tasks in molecular biology research. Among currently available languages we adopted the Lua programming language. It fulfills our requirements to perform computational tasks for sequence map layouts, i.e. the handling of data containers, symbolic reference to data, and a simple programming syntax. Upon importing a foreign file, the original data are first decomposed in the Lua language while maintaining the original data schema. The converted data are parsed by the Lua interpreter and the contents are stored in our data warehouse. Then, portions of annotations are selected and arranged into our catalog format to be depicted on the sequence map. Our sequence visualization program was successfully implemented, embedding the Lua language for processing of annotation data and layout script. The program is available at http://staff.aist.go.jp/yutaka.ueno/guppy/.

Content Familiarity and Gender-Neutral Texts in Foreign Language Reading Comprehension

ERIC Educational Resources Information Center

Jalilehvand, Maryam; Samuel, Moses

2014-01-01

Based on the schema theory, it has been found that the background knowledge of males and females differs. This difference in background knowledge can affect the students' reading comprehension. In Iran, although boys and girls study in different schools, they follow the same curricula and syllabuses in all the schools. The present article reports…

Utilization of Forward Error Correction (FEC) Techniques With Extensible Markup Language (XML) Schema-Based Binary Compression (XSBC) Technology

DTIC Science & Technology

2004-12-01

NY 7. Erik Chaum NUWC Newport, RI 8. David Bellino NPRI Newport, RI 9. Dick Nadolink NUWC Newport, RI 10. VADM Roger Bacon (Ret...Science Advisor Pearl Harbor, HI 16. LT Andrew Hurvitz, USN FNMOC Monterey, CA 17. ENS Darin Keeter, USN FNMOC Monterey, CA 18. CAPT David

A Qualitative Study of Urban and Suburban Elementary Student Understandings of Pest-Related Science and Agricultural Education Benchmarks.

ERIC Educational Resources Information Center

Trexler, Cary J.

2000-01-01

Clinical interviews with nine fifth graders revealed that experiences play a pivotal role in their understanding of pests. They lack well-developed schema and language to discuss pest management. A foundation of core biological concepts was necessary for understanding pests and pest management. (Conatains 34 references.) (SK)

A Learning Design Ontology Based on the IMS Specification

ERIC Educational Resources Information Center

Amorim, Ricardo R.; Lama, Manuel; Sanchez, Eduardo; Riera, Adolfo; Vila, Xose A.

2006-01-01

In this paper, we present an ontology to represent the semantics of the IMS Learning Design (IMS LD) specification, a meta-language used to describe the main elements of the learning design process. The motivation of this work relies on the expressiveness limitations found on the current XML-Schema implementation of the IMS LD conceptual model. To…

LEARNING SEMANTICS-ENHANCED LANGUAGE MODELS APPLIED TO UNSUEPRVISED WSD

DOE Office of Scientific and Technical Information (OSTI.GOV)

VERSPOOR, KARIN; LIN, SHOU-DE

An N-gram language model aims at capturing statistical syntactic word order information from corpora. Although the concept of language models has been applied extensively to handle a variety of NLP problems with reasonable success, the standard model does not incorporate semantic information, and consequently limits its applicability to semantic problems such as word sense disambiguation. We propose a framework that integrates semantic information into the language model schema, allowing a system to exploit both syntactic and semantic information to address NLP problems. Furthermore, acknowledging the limited availability of semantically annotated data, we discuss how the proposed model can be learnedmore » without annotated training examples. Finally, we report on a case study showing how the semantics-enhanced language model can be applied to unsupervised word sense disambiguation with promising results.« less

Automated database design from natural language input

NASA Technical Reports Server (NTRS)

Gomez, Fernando; Segami, Carlos; Delaune, Carl

1995-01-01

Users and programmers of small systems typically do not have the skills needed to design a database schema from an English description of a problem. This paper describes a system that automatically designs databases for such small applications from English descriptions provided by end-users. Although the system has been motivated by the space applications at Kennedy Space Center, and portions of it have been designed with that idea in mind, it can be applied to different situations. The system consists of two major components: a natural language understander and a problem-solver. The paper describes briefly the knowledge representation structures constructed by the natural language understander, and, then, explains the problem-solver in detail.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived from Optical Disdrometer Measurements at VW Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Tarasenko, Nicholas; Lane, Steven

2017-01-01

Since October 2015, NASA Glenn Research Center (GRC) and the Air Force Research Laboratory (AFRL) have collaboratively operated an RF terrestrial link in Albuquerque, New Mexico to characterize atmospheric propagation phenomena at 72 and 84 GHz. The WV-band Terrestrial Link Experiment (WTLE) consists of coherent transmitters at each frequency on the crest of the Sandia Mountains and a corresponding pair of receivers in south Albuquerque. The beacon receivers provide a direct measurement of the link attenuation, while concurrent weather instrumentation provides a measurement of the atmospheric conditions.Among the available weather instruments is an optical disdrometer which yields an optical measurement of rain rate, as well as droplet size and velocity distributions (DSD, DVD). In particular, the DSD can be used to derive an instantaneous scaling factor (ISF) by which the measured data at one frequency can be scaled to another for example, scaling the 72 GHz to an expected 84 GHz timeseries. Given the availability of both the DSD prediction and the directly observed 84 GHz attenuation, WTLE is thus uniquely able assess DSD-derived instantaneous frequency scaling at the VW-bands. Previous work along these lines has investigated the DSD-derived ISF at Ka and Q-band (20 GHz to 40 GHz) using a satellite beacon receiver experiment in Milan, Italy [1-3]. This work will expand the investigation to terrestrial links in the VW-bands, where the frequency scaling factor is lower and where the link is also much more sensitive to attenuation by rain, clouds, and other atmospheric effects.

Ambiguous genitalia: what prenatal genetic testing is practical?

PubMed

Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett

2012-06-01

Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. Copyright © 2012 Wiley Periodicals, Inc.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived from Optical Disdrometer Measurements at V/W Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Tarasenko, Nicholas; Lane, Steven

2017-01-01

Since October 2015, NASA Glenn Research Center (GRC) and the Air Force Research Laboratory (AFRL) have collaboratively operated an RF terrestrial link in Albuquerque, New Mexico to characterize atmospheric propagation phenomena at 72 and 84 GHz. The W/V-band Terrestrial Link Experiment (WTLE) consists of coherent transmitters at each frequency on the crest of the Sandia Mountains and a corresponding pair of receivers in south Albuquerque. The beacon receivers provide a direct measurement of the link attenuation, while concurrent weather instrumentation provides a measurement of the atmospheric conditions. Among the available weather instruments is an optical disdrometer which yields an optical measurement of rain rate, as well as droplet size and velocity distributions (DSD, DVD). In particular, the DSD can be used to derive an instantaneous scaling factor (ISF) by which the measured data at one frequency can be scaled to another - for example, scaling the 72 GHz to an expected 84 GHz timeseries. Given the availability of both the DSD prediction and the directly observed 84 GHz attenuation, WTLE is thus uniquely able assess DSD-derived instantaneous frequency scaling at the V/W-bands. Previous work along these lines has investigated the DSD-derived ISF at Ka and Q-band (20 GHz to 40 GHz) using a satellite beacon receiver experiment in Milan, Italy. This work will expand the investigation to terrestrial links in the V/W-bands, where the frequency scaling factor is lower and where the link is also much more sensitive to attenuation by rain, clouds, and other atmospheric effects.

Challenges in educating patients and parents about differences in sex development.

PubMed

McCauley, Elizabeth

2017-06-01

This article reviews practical approaches to talking with parents and youth about Differences in Sex Development (DSD) which are conditions that affect chromosomal, gonadal, or anatomic sexual development, one of the most personal, and in our society, private areas of life. Talking with parents and patients about these conditions can be challenging given the complexity of sexual development and the sensitive nature of the information being shared. Changing approaches to disclosing or communicating information about conditions, such as DSD are reviewed as well as factors leading to revision in the diagnostic nomenclature. Building on these developments, strategies used by an established DSD team to enhance shared decision making and partnership with families and patients are presented followed by examples of how some particularly challenging, but not uncommon clinical situations were approached. The paper concludes by endorsing the importance of understanding the social and cultural needs and beliefs of the parents and patients with DSD to set the stage for effective disclosure of medical facts. To be most useful to parents and youth, medical disclosure needs to include discussion of practical implications and strategies to help families and patients digest, understand, and work with the information provided. © 2017 Wiley Periodicals, Inc.

Coping With Diverse Sex Development: Treatment Experiences and Psychosocial Support During Childhood and Adolescence and Adult Well-Being.

PubMed

Schweizer, Katinka; Brunner, Franziska; Gedrose, Benjamin; Handford, Christina; Richter-Appelt, Hertha

2017-06-01

The purpose of this exploratory, retrospective, and correlational study was to examine the relationships between childhood treatment experiences, parental care, and social support, and outcome in adults with different diverse sex development (DSD). The data of 69 participants from an exploratory questionnaire were collected in a retrospective German study. The majority received medical treatment in relation to their DSD during childhood and adolescence. Seventy percent reported having had a best friend and 29% a confidant during childhood. Sixty-one percent showed clinically relevant psychological distress, and 45% reported suicidal thoughts at least at one point in their lives. Quality of parental care and having had a best friend correlated positively with adult outcome, whereas treatment experiences correlated with aspects of impaired adjustment. Social support and DSD-related treatment experiences appear to have an impact on adult well-being. Appropriate psychosocial care including peer-to-peer support should be made available to children with DSD and their families. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Embodied experiences for science learning: A cognitive linguistics exploration of middle school students' language in learning about water

NASA Astrophysics Data System (ADS)

Salinas Barrios, Ivan Eduardo

I investigated linguistic patterns in middle school students' writing to understand their relevant embodied experiences for learning science. Embodied experiences are those limited by the perceptual and motor constraints of the human body. Recent research indicates student understanding of science needs embodied experiences. Recent emphases of science education researchers in the practices of science suggest that students' understanding of systems and their structure, scale, size, representations, and causality are crosscutting concepts that unify all scientific disciplinary areas. To discern the relationship between linguistic patterns and embodied experiences, I relied on Cognitive Linguistics, a field within cognitive sciences that pays attention to language organization and use assuming that language reflects the human cognitive system. Particularly, I investigated the embodied experiences that 268 middle school students learning about water brought to understanding: i) systems and system structure; ii) scale, size and representations; and iii) causality. Using content analysis, I explored students' language in search of patterns regarding linguistic phenomena described within cognitive linguistics: image schemas, conceptual metaphors, event schemas, semantical roles, and force-dynamics. I found several common embodied experiences organizing students' understanding of crosscutting concepts. Perception of boundaries and change in location and perception of spatial organization in the vertical axis are relevant embodied experiences for students' understanding of systems and system structure. Direct object manipulation and perception of size with and without locomotion are relevant for understanding scale, size and representations. Direct applications of force and consequential perception of movement or change in form are relevant for understanding of causality. I discuss implications of these findings for research and science teaching.

Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection

PubMed Central

Raveenthiran, V.

2017-01-01

Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies. Conceptual duality of sexes, confused notion of sex and gender, bias towards penetrative intercourse, conflict between utopian ideals and reality, unwillingness to compromise are identified as perpetuators of controversies. Suggestions are made regarding sex assignment in various types of DSD based on the understanding of published literature and the author’s personal experience. PMID:28920018

Two males with SRY-positive 46,XX testicular disorder of sex development.

PubMed

Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

2013-02-01

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

Distillability sudden death in qutrit-qutrit systems under global and multilocal dephasing

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ali, Mazhar

2010-04-15

Recently Song et al. [Phys. Rev. A 80, 012331 (2009)] discovered that certain two-qutrit entangled states interacting with multilocal dephasing undergo distillability sudden death (DSD). We generalized their studies for quantum states under global, collective, and multilocal dephasing. We found that for a specific family of quantum states DSD and entanglement sudden death may happen under global dephasing as well as under multilocal dephasing. Moreover, for these states simple local unitary transformations may not avoid DSD under the current dynamics. As there is no definitive criterion for separability or entanglement of density matrices with dimensions greater than six, therefore wemore » believe that the results obtained in this article are restricted to the specific family of states considered here.« less

How Polish Children Switch from One Case to Another when Using Novel Nouns: Challenges for Models of Inflectional Morphology

ERIC Educational Resources Information Center

Krajewski, Grzegorz; Theakston, Anna L.; Lieven, Elena V. M.; Tomasello, Michael

2011-01-01

The two main models of children's acquisition of inflectional morphology--the Dual-Mechanism approach and the usage-based (schema-based) approach--have both been applied mainly to languages with fairly simple morphological systems. Here we report two studies of 2-3-year-old Polish children's ability to generalise across case-inflectional endings…

Non-English Majors' Listening Teaching Based on Lexical Chunks Theory and Schema Theory

ERIC Educational Resources Information Center

He, Xiaoyu

2016-01-01

English listening is seen as a vital means of linguistic input for Chinese EFL (English as a Foreign Language) learners, which lays a solid foundation for English learning and communication with English speakers. Besides, with increasing of scores of the listening part in the newly-reformed CET-4 and CET-6 (CET refers to college English test in…

Astronomical Data Integration Beyond the Virtual Observatory

NASA Astrophysics Data System (ADS)

Lemson, G.; Laurino, O.

2015-09-01

"Data integration" generally refers to the process of combining data from different source data bases into a unified view. Much work has been devoted in this area by the International Virtual Observatory Alliance (IVOA), allowing users to discover and access databases through standard protocols. However, different archives present their data through their own schemas and users must still select, filter, and combine data for each archive individually. An important reason for this is that the creation of common data models that satisfy all sub-disciplines is fraught with difficulties. Furthermore it requires a substantial amount of work for data providers to present their data according to some standard representation. We will argue that existing standards allow us to build a data integration framework that works around these problems. The particular framework requires the implementation of the IVOA Table Access Protocol (TAP) only. It uses the newly developed VO data modelling language (VO-DML) specification, which allows one to define extensible object-oriented data models using a subset of UML concepts through a simple XML serialization language. A rich mapping language allows one to describe how instances of VO-DML data models are represented by the TAP service, bridging the possible mismatch between a local archive's schema and some agreed-upon representation of the astronomical domain. In this so called local-as-view approach to data integration, “mediators" use the mapping prescriptions to translate queries phrased in terms of the common schema to the underlying TAP service. This mapping language has a graphical representation, which we expose through a web based graphical “drag-and-drop-and-connect" interface. This service allows any user to map the holdings of any TAP service to the data model(s) of choice. The mappings are defined and stored outside of the data sources themselves, which allows the interface to be used in a kind of crowd-sourcing effort to annotate any remote database of interest. This reduces the burden of publishing one's data and allows a great flexibility in the definition of the views through which particular communities might wish to access remote archives. At the same time, the framework easies the user's effort to select, filter, and combine data from many different archives, so as to build knowledge bases for their analysis. We will present the framework and demonstrate a prototype implementation. We will discuss ideas for producing the missing elements, in particular the query language and the implementation of mediator tools to translate object queries to ADQL

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived From Optical Disdrometer Measurements At KQ Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Houts, Jacquelynne; Luini, Lorenzo; Riva, Carlo

2016-01-01

The rain rate data and statistics of a location are often used in conjunction with models to predict rain attenuation. However, the true attenuation is a function not only of rain rate, but also of the drop size distribution (DSD). Generally, models utilize an average drop size distribution (Laws and Parsons or Marshall and Palmer. However, individual rain events may deviate from these models significantly if their DSD is not well approximated by the average. Therefore, characterizing the relationship between the DSD and attenuation is valuable in improving modeled predictions of rain attenuation statistics. The DSD may also be used to derive the instantaneous frequency scaling factor and thus validate frequency scaling models. Since June of 2014, NASA Glenn Research Center (GRC) and the Politecnico di Milano (POLIMI) have jointly conducted a propagation study in Milan, Italy utilizing the 20 and 40 GHz beacon signals of the Alphasat TDP#5 Aldo Paraboni payload. The Ka- and Q-band beacon receivers provide a direct measurement of the signal attenuation while concurrent weather instrumentation provides measurements of the atmospheric conditions at the receiver. Among these instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which yields droplet size distributions (DSD); this DSD information can be used to derive a scaling factor that scales the measured 20 GHz data to expected 40 GHz attenuation. Given the capability to both predict and directly observe 40 GHz attenuation, this site is uniquely situated to assess and characterize such predictions. Previous work using this data has examined the relationship between the measured drop-size distribution and the measured attenuation of the link]. The focus of this paper now turns to a deeper analysis of the scaling factor, including the prediction error as a function of attenuation level, correlation between the scaling factor and the rain rate, and the temporal variability of the drop size distribution both within a given rain event and across different varieties of rain events. Index Terms-drop size distribution, frequency scaling, propagation losses, radiowave propagation.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived From Optical Disdrometer Measurements At KQ Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Houts, Jacquelynne; Luini, Lorenzo; Riva, Carlo

2016-01-01

The rain rate data and statistics of a location are often used in conjunction with models to predict rain attenuation. However, the true attenuation is a function not only of rain rate, but also of the drop size distribution (DSD). Generally, models utilize an average drop size distribution (Laws and Parsons or Marshall and Palmer [1]). However, individual rain events may deviate from these models significantly if their DSD is not well approximated by the average. Therefore, characterizing the relationship between the DSD and attenuation is valuable in improving modeled predictions of rain attenuation statistics. The DSD may also be used to derive the instantaneous frequency scaling factor and thus validate frequency scaling models. Since June of 2014, NASA Glenn Research Center (GRC) and the Politecnico di Milano (POLIMI) have jointly conducted a propagation study in Milan, Italy utilizing the 20 and 40 GHz beacon signals of the Alphasat TDP#5 Aldo Paraboni payload. The Ka- and Q-band beacon receivers provide a direct measurement of the signal attenuation while concurrent weather instrumentation provides measurements of the atmospheric conditions at the receiver. Among these instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which yields droplet size distributions (DSD); this DSD information can be used to derive a scaling factor that scales the measured 20 GHz data to expected 40 GHz attenuation. Given the capability to both predict and directly observe 40 GHz attenuation, this site is uniquely situated to assess and characterize such predictions. Previous work using this data has examined the relationship between the measured drop-size distribution and the measured attenuation of the link [2]. The focus of this paper now turns to a deeper analysis of the scaling factor, including the prediction error as a function of attenuation level, correlation between the scaling factor and the rain rate, and the temporal variability of the drop size distribution both within a given rain event and across different varieties of rain events. Index Terms-drop size distribution, frequency scaling, propagation losses, radiowave propagation.

Contribution of long-term accounting for raindrop size distribution variations on quantitative precipitation estimation by weather radar: Disdrometers vs parameter optimization

NASA Astrophysics Data System (ADS)

Hazenberg, P.; Uijlenhoet, R.; Leijnse, H.

2015-12-01

Volumetric weather radars provide information on the characteristics of precipitation at high spatial and temporal resolution. Unfortunately, rainfall measurements by radar are affected by multiple error sources, which can be subdivided into two main groups: 1) errors affecting the volumetric reflectivity measurements (e.g. ground clutter, vertical profile of reflectivity, attenuation, etc.), and 2) errors related to the conversion of the observed reflectivity (Z) values into rainfall intensity (R) and specific attenuation (k). Until the recent wide-scale implementation of dual-polarimetric radar, this second group of errors received relatively little attention, focusing predominantly on precipitation type-dependent Z-R and Z-k relations. The current work accounts for the impact of variations of the drop size distribution (DSD) on the radar QPE performance. We propose to link the parameters of the Z-R and Z-k relations directly to those of the normalized gamma DSD. The benefit of this procedure is that it reduces the number of unknown parameters. In this work, the DSD parameters are obtained using 1) surface observations from a Parsivel and Thies LPM disdrometer, and 2) a Monte Carlo optimization procedure using surface rain gauge observations. The impact of both approaches for a given precipitation type is assessed for 45 days of summertime precipitation observed within The Netherlands. Accounting for DSD variations using disdrometer observations leads to an improved radar QPE product as compared to applying climatological Z-R and Z-k relations. However, overall precipitation intensities are still underestimated. This underestimation is expected to result from unaccounted errors (e.g. transmitter calibration, erroneous identification of precipitation as clutter, overshooting and small-scale variability). In case the DSD parameters are optimized, the performance of the radar is further improved, resulting in the best performance of the radar QPE product. However, the resulting optimal Z-R and Z-k relations are considerably different from those obtained from disdrometer observations. As such, the best microphysical parameter set results in a minimization of the overall bias, which besides accounting for DSD variations also corrects for the impact of additional error sources.

Body image and self-esteem in disorders of sex development: A European multicenter study.

PubMed

van de Grift, Tim C; Cohen-Kettenis, Peggy T; de Vries, Annelou L C; Kreukels, Baudewijntje P C

2018-04-01

Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD. Main outcome measures in the present analyses were the Body Image Scale and Rosenberg Self-Esteem Scale. Additional data were obtained on treatments, openness, body embarrassment, sexual satisfaction, anxiety, and depression. The participating sample (n = 1,040) included 226 classified as Congenital Adrenal Hyperplasia, 225 as Klinefelter Syndrome, 322 as Turner Syndrome, and 267 as conditions with 46,XY karyotype. Many participants had received hormonal and surgical treatments. Participants scored lower on body image and self-esteem compared to control values, whereas each diagnosis showed different areas of concern. Limited openness, body embarrassment, and sexual issues were frequently reported. Overall body satisfaction was associated with BMI, hormone use, openness, body embarrassment, anxiety, and depression; genital satisfaction with age at diagnosis, openness, sexual satisfaction, and body embarrassment. Body embarrassment, anxiety, and depression predicted lower self-esteem. While each DSD showed specific issues related to body image and self-esteem, our findings indicate that the related factors were similar across the conditions. Clinical care on this subject could be improved by giving specific attention to factors like openness, body embarrassment, sexuality, anxiety, and depression. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

PubMed

Hornig, N C; Ukat, M; Schweikert, H U; Hiort, O; Werner, R; Drop, S L S; Cools, M; Hughes, I A; Audi, L; Ahmed, S F; Demiri, J; Rodens, P; Worch, L; Wehner, G; Kulle, A E; Dunstheimer, D; Müller-Roßberg, E; Reinehr, T; Hadidi, A T; Eckstein, A K; van der Horst, C; Seif, C; Siebert, R; Ammerpohl, O; Holterhus, P-M

2016-11-01

Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus. The study was conducted at a university hospital endocrine research laboratory. GFs from 169 individuals were studied encompassing control males (n = 68), molecular defined DSD other than androgen insensitivity syndrome (AIS; n = 18), AR mutation-positive AIS (n = 37), and previously undiagnosed DSD including patients with a clinical suspicion of AIS (n = 46). There were no interventions. DHT-dependent APOD expression in cultured GF and AR mutation status in 169 individuals was measured. The APOD assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff < 2.3-fold APOD-induction; 100% sensitivity, 93.3% specificity, P < .0001). Of 46 DSD individuals with no AR mutation, 17 (37%) fell below the cutoff, indicating disrupted androgen signaling. AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance.

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

PubMed Central

White, Stefan; Ohnesorg, Thomas; Notini, Amanda; Roeszler, Kelly; Hewitt, Jacqueline; Daggag, Hinda; Smith, Craig; Turbitt, Erin; Gustin, Sonja; van den Bergen, Jocelyn; Miles, Denise; Western, Patrick; Arboleda, Valerie; Schumacher, Valerie; Gordon, Lavinia; Bell, Katrina; Bengtsson, Henrik; Speed, Terry; Hutson, John; Warne, Garry; Harley, Vincent; Koopman, Peter; Vilain, Eric; Sinclair, Andrew

2011-01-01

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases. PMID:21408189

A comprehensive pathophysiology of dandruff and seborrheic dermatitis - towards a more precise definition of scalp health.

PubMed

Schwartz, James R; Messenger, Andrew G; Tosti, Antonella; Todd, Gail; Hordinsky, Maria; Hay, Roderick J; Wang, Xuemin; Zachariae, Claus; Kerr, Kathy M; Henry, James P; Rust, Rene C; Robinson, Michael K

2013-03-27

Despite an increasing knowledge of dandruff and seborrheic dermatitis (D/SD), the pathophysiological understanding is still incomplete but suggests a role of Malassezia yeasts in triggering inflammatory and hyper-proliferative epidermal responses. The objective of this report is to review published literature from in vivo studies of D/SD populations to provide a more complete description of overall scalp health. New biomolecular capabilities establish a depth of pathophysiological understanding not previously achievable with traditional means of investigation. Biomarkers representing inflammation, hyper-proliferation and barrier function are all perturbed by the D/SD condition and robustly respond to therapeutic resolution. These biomarkers can be sampled noninvasively, enabling their use in routine clinical evaluations as either surrogate endpoints or complementary ones to classical signs/symptoms to broaden the etiological learning.

The effect of written text on comprehension of spoken English as a foreign language.

PubMed

Diao, Yali; Chandler, Paul; Sweller, John

2007-01-01

Based on cognitive load theory, this study investigated the effect of simultaneous written presentations on comprehension of spoken English as a foreign language. Learners' language comprehension was compared while they used 3 instructional formats: listening with auditory materials only, listening with a full, written script, and listening with simultaneous subtitled text. Listening with the presence of a script and subtitles led to better understanding of the scripted and subtitled passage but poorer performance on a subsequent auditory passage than listening with the auditory materials only. These findings indicated that where the intention was learning to listen, the use of a full script or subtitles had detrimental effects on the construction and automation of listening comprehension schemas.

Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer

PubMed Central

Jeong, Young-Hee; Lu, Hanlin; Park, Chi-Hun; Li, Meiyan; Luo, Huijuan; Kim, Joung Joo; Liu, Siyang; Ko, Kyeong Hee; Huang, Shujia; Hwang, In Sung; Kang, Mi Na; Gong, Desheng; Park, Kang Bae; Choi, Eun Ji; Park, Jung Hyun; Jeong, Yeon Woo; Moon, Changjong; Hyun, Sang-Hwan; Kim, Nam Hyung; Jeung, Eui-Bae; Yang, Huanming; Hwang, Woo Suk; Gao, Fei

2016-01-01

Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs. Persistent abnormal hypermethylation of the SRY gene was observed together with its down-regulated mRNA and protein expression. Failure of SRY expression due to hypermethylation was further correlated with silencing of a serial of testis determining genes, including SOX9, SF1, SOX8, AMH and DMRT1 in an early embryonic development stage at E34 in the XYDSD gonad, and high activation of the female specific genes, including FOXL2, RSPO1, CYP19A1, WNT4, ERα and ERβ, after one postnatal year in the ovotestis. Our results demonstrate that incomplete demethylation on the SRY gene is the driving cause of XYDSD in these XY DSD dogs, indicating a central role of epigenetic regulation in sex determination. PMID:27501986

SCHeMA web-based observation data information system

NASA Astrophysics Data System (ADS)

Novellino, Antonio; Benedetti, Giacomo; D'Angelo, Paolo; Confalonieri, Fabio; Massa, Francesco; Povero, Paolo; Tercier-Waeber, Marie-Louise

2016-04-01

It is well recognized that the need of sharing ocean data among non-specialized users is constantly increasing. Initiatives that are built upon international standards will contribute to simplify data processing and dissemination, improve user-accessibility also through web browsers, facilitate the sharing of information across the integrated network of ocean observing systems; and ultimately provide a better understanding of the ocean functioning. The SCHeMA (Integrated in Situ Chemical MApping probe) Project is developing an open and modular sensing solution for autonomous in situ high resolution mapping of a wide range of anthropogenic and natural chemical compounds coupled to master bio-physicochemical parameters (www.schema-ocean.eu). The SCHeMA web system is designed to ensure user-friendly data discovery, access and download as well as interoperability with other projects through a dedicated interface that implements the Global Earth Observation System of Systems - Common Infrastructure (GCI) recommendations and the international Open Geospatial Consortium - Sensor Web Enablement (OGC-SWE) standards. This approach will insure data accessibility in compliance with major European Directives and recommendations. Being modular, the system allows the plug-and-play of commercially available probes as well as new sensor probess under development within the project. The access to the network of monitoring probes is provided via a web-based system interface that, being implemented as a SOS (Sensor Observation Service), is providing standard interoperability and access tosensor observations systems through O&M standard - as well as sensor descriptions - encoded in Sensor Model Language (SensorML). The use of common vocabularies in all metadatabases and data formats, to describe data in an already harmonized and common standard is a prerequisite towards consistency and interoperability. Therefore, the SCHeMA SOS has adopted the SeaVox common vocabularies populated by SeaDataNet network of National Oceanographic Data Centres. The SCHeMA presentation layer, a fundamental part of the software architecture, offers to the user a bidirectional interaction with the integrated system allowing to manage and configure the sensor probes; view the stored observations and metadata, and handle alarms. The overall structure of the web portal developed within the SCHeMA initiative (Sensor Configuration, development of Core Profile interface for data access via OGC standard, external services such as web services, WMS, WFS; and Data download and query manager) will be presented and illustrated with examples of ongoing tests in costal and open sea.

Exploring the Relationship between Social Capitals and English Language Achievement within a Specific Grade and Context

ERIC Educational Resources Information Center

Khodadady, Ebrahim; Pishghadam, Reza; Alaee, Farnaz Farokh

2012-01-01

An achievement test based on schema theory (S-Test) was developed on the passages comprising the English textbook taught at grade three in state high schools in Iran and administered concurrently with a validated and reliable Social Capital Scale (SCS) to four hundred seventy seven male and female participants. The Z-scores obtained on the S-Test…

Sensitivity of C-Band Polarimetric Radar-Based Drop Size Distribution Measurements to Maximum Diameter Assumptions

NASA Technical Reports Server (NTRS)

Carey, Lawrence D.; Petersen, Walter A.

2011-01-01

The estimation of rain drop size distribution (DSD) parameters from polarimetric radar observations is accomplished by first establishing a relationship between differential reflectivity (Z(sub dr)) and the central tendency of the rain DSD such as the median volume diameter (D0). Since Z(sub dr) does not provide a direct measurement of DSD central tendency, the relationship is typically derived empirically from rain drop and radar scattering models (e.g., D0 = F[Z (sub dr)] ). Past studies have explored the general sensitivity of these models to temperature, radar wavelength, the drop shape vs. size relation, and DSD variability. Much progress has been made in recent years in measuring the drop shape and DSD variability using surface-based disdrometers, such as the 2D Video disdrometer (2DVD), and documenting their impact on polarimetric radar techniques. In addition to measuring drop shape, another advantage of the 2DVD over earlier impact type disdrometers is its ability to resolve drop diameters in excess of 5 mm. Despite this improvement, the sampling limitations of a disdrometer, including the 2DVD, make it very difficult to adequately measure the maximum drop diameter (D(sub max)) present in a typical radar resolution volume. As a result, D(sub max) must still be assumed in the drop and radar models from which D0 = F[Z(sub dr)] is derived. Since scattering resonance at C-band wavelengths begins to occur in drop diameters larger than about 5 mm, modeled C-band radar parameters, particularly Z(sub dr), can be sensitive to D(sub max) assumptions. In past C-band radar studies, a variety of D(sub max) assumptions have been made, including the actual disdrometer estimate of D(sub max) during a typical sampling period (e.g., 1-3 minutes), D(sub max) = C (where C is constant at values from 5 to 8 mm), and D(sub max) = M*D0 (where the constant multiple, M, is fixed at values ranging from 2.5 to 3.5). The overall objective of this NASA Global Precipitation Measurement Mission (GPM/PMM Science Team)-funded study is to document the sensitivity of DSD measurements, including estimates of D0, from C-band Z(sub dr) and reflectivity to this range of D(sub max) assumptions. For this study, GPM Ground Validation 2DVD's were operated under the scanning domain of the UAHuntsville ARMOR C-band dual-polarimetric radar. Approximately 7500 minutes of DSD data were collected and processed to create gamma size distribution parameters using a truncated method of moments approach. After creating the gamma parameter datasets the DSD's were then used as input to a T-matrix model for computation of polarimetric radar moments at C-band. All necessary model parameterizations, such as temperature, drop shape, and drop fall mode, were fixed at typically accepted values while the D(sub max) assumption was allowed to vary in sensitivity tests. By hypothesizing a DSD model with D(sub max) (fit) from which the empirical fit to D0 = F[Z(sub dr)] was derived via non-linear least squares regression and a separate reference DSD model with D(sub max) (truth), bias and standard error in D0 retrievals were estimated in the presence of Z(sub dr) measurement error and hypothesized mismatch in D(sub max) assumptions. Although the normalized standard error for D0 = F[Z(sub dr)r] can increase slightly (as much as from 11% to 16% for all 7500 DSDs) when the D(sub max) (fit) does not match D(sub max) (truth), the primary impact of uncertainty in D(sub max) is a potential increase in normalized bias error in D0 (from 0% to as much as 10% over all 7500 DSDs, depending on the extent of the mismatch between D(sub max) (fit) and D(sub max) (truth)). For DSDs characterized by large Z(sub dr) (Z(sub dr) > 1.5 to 2.0 dB), the normalized bias error for D0 estimation at C-band is sometimes unacceptably large (> 10%), again depending on the extent of the hypothesized D(sub max) mismatch. Modeled errors in D0 retrievals from Z(sub dr) at C-band are demonstrated in detail and comparedo similar modeled retrieval errors at S-band and X-band where the sensitivity to D(sub max) is expected to be less. The impact of D(sub max) assumptions to the retrieval of other DSD parameters such as Nw, the liquid water content normalized intercept parameter, are also explored. Likely implications for DSD retrievals using C-band polarimetric radar for GPM are assessed by considering current community knowledge regarding D(sub max) and quantifying the statistical distribution of Z(sub dr) from ARMOR over a large variety of meteorological conditions. Based on these results and the prevalence of C-band polarimetric radars worldwide, a call for more emphasis on constraining our observational estimate of D(sub max) within a typical radar resolution volume is made

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

PubMed

Grinspon, Romina P; Rey, Rodolfo A

2016-01-01

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed. © 2016 S. Karger AG, Basel.

Structural Damage Prediction and Analysis for Hypervelocity Impact. UDRI Light Gas Gun Test Data Summaries

NASA Technical Reports Server (NTRS)

1995-01-01

The HEX bumper was originally developed for use with the Defensive Shields Demonstration (DSD) Program. The University of Dayton Research Institute was a subcontractor to the Martin Marietta Astronautics Group in Denver Colorado at the time the HEX bumper was designed for use on the DSD Program. The design originated at the University and was essentially made available to interested parties. All HEX bumpers used in the DSD Program were fabricated at the University by rolling sheet stock through a special set of rollers. Two pieces of 3003-H14 aluminum sheet were rolled to produce the bumpers evaluated in Shots 4-1302 and 4-1304. A brief summary of the results of these tests is given in below. Contact prints of the multiple-exposure, orthogonal view radiographs of the debris clouds produced by the tests are attached. A sketch of the HEX bumper design is also attached.

Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development.

PubMed

Wolfe-Christensen, Cortney; Fedele, David A; Mullins, Larry L; Lakshmanan, Yegappan; Wisniewski, Amy B

2014-07-01

To examine whether male and female caregivers of children with a disorder of sex development (DSD) differ in levels of anxious and depressive symptoms. Participants included 80 caregivers (40 males, 40 females) of 40 children with a DSD. Children were categorized based on illness characteristics including ambiguous genitalia, life-threatening, and life-threatening with ambiguous genitalia. Caregivers completed measures of anxious and depressive symptoms. A significant caregiver × diagnosis interaction for anxious symptoms emerged, with male caregivers of children with both ambiguous genitalia and a life-threatening condition reporting significantly lower levels of anxious symptoms than female caregivers of the same children. The findings are surprising because of the low level of anxious symptoms reported by male caregivers of children with a complex DSD. It is possible that they have disengaged themselves from the child and/or diagnosis, causing their female counterparts to take on more responsibility.

An extension of the directed search domain algorithm to bilevel optimization

NASA Astrophysics Data System (ADS)

Wang, Kaiqiang; Utyuzhnikov, Sergey V.

2017-08-01

A method is developed for generating a well-distributed Pareto set for the upper level in bilevel multiobjective optimization. The approach is based on the Directed Search Domain (DSD) algorithm, which is a classical approach for generation of a quasi-evenly distributed Pareto set in multiobjective optimization. The approach contains a double-layer optimizer designed in a specific way under the framework of the DSD method. The double-layer optimizer is based on bilevel single-objective optimization and aims to find a unique optimal Pareto solution rather than generate the whole Pareto frontier on the lower level in order to improve the optimization efficiency. The proposed bilevel DSD approach is verified on several test cases, and a relevant comparison against another classical approach is made. It is shown that the approach can generate a quasi-evenly distributed Pareto set for the upper level with relatively low time consumption.

A method to combine spaceborne radar and radiometric observations of precipitation

NASA Astrophysics Data System (ADS)

Munchak, Stephen Joseph

This dissertation describes the development and application of a combined radar-radiometer rainfall retrieval algorithm for the Tropical Rainfall Measuring Mission (TRMM) satellite. A retrieval framework based upon optimal estimation theory is proposed wherein three parameters describing the raindrop size distribution (DSD), ice particle size distribution (PSD), and cloud water path (cLWP) are retrieved for each radar profile. The retrieved rainfall rate is found to be strongly sensitive to the a priori constraints in DSD and cLWP; thus, these parameters are tuned to match polarimetric radar estimates of rainfall near Kwajalein, Republic of Marshall Islands. An independent validation against gauge-tuned radar rainfall estimates at Melbourne, FL shows agreement within 2% which exceeds previous algorithms' ability to match rainfall at these two sites. The algorithm is then applied to two years of TRMM data over oceans to determine the sources of DSD variability. Three correlated sets of variables representing storm dynamics, background environment, and cloud microphysics are found to account for approximately 50% of the variability in the absolute and reflectivity-normalized median drop size. Structures of radar reflectivity are also identified and related to drop size, with these relationships being confirmed by ground-based polarimetric radar data from the North American Monsoon Experiment (NAME). Regional patterns of DSD and the sources of variability identified herein are also shown to be consistent with previous work documenting regional DSD properties. In particular, mid-latitude regions and tropical regions near land tend to have larger drops for a given reflectivity, whereas the smallest drops are found in the eastern Pacific Intertropical Convergence Zone. Due to properties of the DSD and rain water/cloud water partitioning that change with column water vapor, it is shown that increases in water vapor in a global warming scenario could lead to slight (1%) underestimates of a rainfall trends by radar but larger overestimates (5%) by radiometer algorithms. Further analyses are performed to compare tropical oceanic mean rainfall rates between the combined algorithm and other sources. The combined algorithm is 15% higher than the version 6 of the 2A25 radar-only algorithm and 6.6% higher than the Global Precipitation Climatology Project (GPCP) estimate for the same time-space domain. Despite being higher than these two sources, the combined total is not inconsistent with estimates of the other components of the energy budget given their uncertainties.

Comparison between natural Rain drop size distributions and corresponding models near equilibrium state during warm rain

NASA Astrophysics Data System (ADS)

Barthes, Laurent; Mallet, Cécile

2010-05-01

Keywords: Rain Drop Size Distribution, Breakup, coalescence, disdrometer The study of the vertical evolution of raindrop size distributions (DSDs) during rainfall, from the freezing level isotherm to ground level, is a key to improving our understanding of the microphysics of rain. In numerous domains such as remote sensing, telecommunications, soil erosion, and the study of the rain's efficiency in 'washing' the atmosphere, the DSD plays an important role. Among the different processes affecting the evolution of DSD, breakup and coalescence are two of the most significant. Models of coalescence and breakup lead to equilibrium of the raindrop size distribution (DSD) after a fall through sufficient vertical height. At equilibrium, the DSD no longer evolves, and its shape is unique whatever the rain rate or LWC. This implies that the DSD is known, to within a multiplication constant. These models based on experimental measurements have been developed over the past 40 years. The Low and List (1982a,b) parameterization (hereinafter LL82) and the Greg M. McFarquhar (2004) model are both based on the same laboratory experiments, which lead to an equilibrium drop size distribution (EDSD) with two or three peaks, and an exponential tail with a slope of approximately Λ=65 cm-1. Numerous measurements using disdrometer collected in different climatic areas: Paris, France (Mars to October 2000), Iowa-City (April to October 2002), and Djougou (Benin June to September 2006) corresponding to 537 hours of rain period have shown that for high rain rates, close to a state of equilibrium, this slope lies between Λ=20 - 22 cm-1. This latter value is corroborated by others measurements found in the literature (Hu & Srivastava, 1995). Hu & Srivastava suggested that the Low and List parameterization may overestimate the effects of the breakup process. This hypothesis is in adequation with recent laboratory experiments (A.P. Barros 2008) in which the authors conclude that the number of fragments droplets produced when small drops and large drops collide is overestimate. As new parameterization of LL82 is not possible due to the lack of new sufficient large experimental dataset, we have simply tried in the present study to 'compensate' the problem previously mentioned by replacing the coalescence/breakup model proposed in LL82 by another one in which the breakup process is less dominant. In order to evaluate the relevance of this modification, some of the DSD parameters such as slope, mean volume diameter, and relation between moments are calculated, and comparisons with experimental DSD are made. Simulations at equilibrium lead to a DSD tail with a slope of 23 cm-1 and a mean volume diameter equal to 2.5 mm. These values are in good agreements with experimental data. Similarly, the linear relationship between No* and the rainfall rate is also in good agreement. In the last part, the modified parameterization is then used to study the evolution of an initially gamma-like DSD in a 1D vertical rain shaft. References Barros, A. P., O. P. Prat, P. Shrestha, F. Y. Testik, and L. F. Bliven, 2008. Revisiting Low and List (1982): evaluation of raindrop collision using laboratory observations and modeling. Journal of the Atmospheric Sciences. Vol. 65(9), pp. 2983-2993. Hu, Z., and R. C. Srivastava: 1995: Evolution of raindrop size distribution by coalescence, breakup, and evaporation: Theory and observations. J. Atmos. Sci., 52, 1761-1783. Low, T. B. and R. List, 1982a: Collision, coalescence, and breakup of raindrops. Part I: Experimentally established coalescence efficiencies and fragment size distributions in breakup. J. Atmos. Sci., 39, 1591-1606. ___ 1982b: Collision, coalescence, and breakup of raindrops. Part II: Parameterization of fragment size distributions. J. Atmos. Sci., 39, 1607-1618. McFarquhar, G. M, 2004: A new representation of collision-induced breakup of raindrops and its implications for the shapes of raindrop size distributions, J. Atmos. Sci., 61(7), 777-794.

[Hermaphroditos in Greek mythology--DSD in moderne medicine].

PubMed

Oestmann, A; Mullis, P E; Stanga, Z

2009-01-07

We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified.

Management framework paradigms for disorders of sex development.

PubMed

Telles-Silveira, Mariana; Knobloch, Felicia; Kater, Claudio E

2015-10-01

Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

PubMed

Byers, Heather M; Mohnach, Lauren H; Fechner, Patricia Y; Chen, Ming; Thomas, Inas H; Ramsdell, Linda A; Shnorhavorian, Margarett; McCauley, Elizabeth A; Amies Oelschlager, Anne-Marie E; Park, John M; Sandberg, David E; Adam, Margaret P; Keegan, Catherine E

2017-06-01

Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide. © 2017 Wiley Periodicals, Inc.

Impact of the surface wind flow on precipitation characteristics over the southern Himalayas: GPM observations

NASA Astrophysics Data System (ADS)

Zhang, Aoqi; Fu, Yunfei; Chen, Yilun; Liu, Guosheng; Zhang, Xiangdong

2018-04-01

The distribution and influence of precipitation over the southern Himalayas have been investigated on regional and global scales. However, previous studies have been limited by the insufficient emphasis on the precipitation triggers or the lack of droplet size distribution (DSD) data. Here, precipitating systems were identified using Global Precipitation Mission dual-frequency radar data, and then categorized into five classes according to surface flow from the European Centre for Medium-Range Weather Forecast Interim data. The surface flow is introduced to indicate the precipitation triggers, which is validated in this study. Using case and statistical analysis, we show that the precipitating systems with different surface flow had different precipitation characteristics, including spatio-temporal features, reflectivity profile, DSD, and rainfall intensity. Furthermore, the results show that the source of the surface flow influences the intensity and DSD of precipitation. The terrain exerts different impacts on the precipitating systems of five categories, leading to various distributions of precipitation characteristics over the southern Himalayas. Our results suggest that the introduction of surface flow and DSD for precipitating systems provides insight into the complex precipitation of the southern Himalayas. The different characteristics of precipitating systems may be caused by the surface flow. Therefore, future study on the orographic precipitations should take account the impact of the surface flow and its relevant dynamic mechanism.

Experimental investigation of liquid-liquid system drop size distribution in Taylor-Couette flow and its application in the CFD simulation

NASA Astrophysics Data System (ADS)

Farzad, Reza; Puttinger, Stefan; Pirker, Stefan; Schneiderbauer, Simon

Liquid-liquid systems are widely used in the several industries such as food, pharmaceutical, cosmetic, chemical and petroleum. Drop size distribution (DSD) plays a key role as it strongly affects the overall mass and heat transfer in the liquid-liquid systems. To understand the underlying mechanisms single drop breakup experiments have been done by several researchers in the Taylor-Couette flow; however, most of those studies concentrate on the laminar flow regime and therefore, there is no sufficient amount of data in the case of in turbulent flows. The well-defined pattern of the Taylor-Couette flow enables the possibility to investigate DSD as a function of the local fluid dynamic properties, such as shear rate, which is in contrast to more complex devices such as stirred tank reactors. This paper deals with the experimental investigation of liquid-liquid DSD in Taylor-Couette flow. From high speed camera images we found a simple correlation for the Sauter mean diameter as a function of the local shear employing image processing. It is shown that this correlation holds for different oil-in-water emulsions. Finally, this empirical correlation for the DSD is used as an input data for a CFD simulation to compute the local breakup of individual droplets in a stirred tank reactor.

An ECG storage and retrieval system embedded in client server HIS utilizing object-oriented DB.

PubMed

Wang, C; Ohe, K; Sakurai, T; Nagase, T; Kaihara, S

1996-02-01

In the University of Tokyo Hospital, the improved client server HIS has been applied to clinical practice and physicians can order prescription, laboratory examination, ECG examination and radiographic examination, etc. directly by themselves and read results of these examinations, except medical signal waves, schema and image, on UNIX workstations. Recently, we designed and developed an ECG storage and retrieval system embedded in the client server HIS utilizing object-oriented database to take the first step in dealing with digitized signal, schema and image data and show waves, graphics, and images directly to physicians by the client server HIS. The system was developed based on object-oriented analysis and design, and implemented with object-oriented database management system (OODMS) and C++ programming language. In this paper, we describe the ECG data model, functions of the storage and retrieval system, features of user interface and the result of its implementation in the HIS.

MAVEN-SA: Model-Based Automated Visualization for Enhanced Situation Awareness

DTIC Science & Technology

2005-11-01

34 methods. But historically, as arts evolve, these how to methods become systematized and codified (e.g. the development and refinement of color theory ...schema (as necessary) 3. Draw inferences from new knowledge to support decision making process 33 Visual language theory suggests that humans process...informed by theories of learning. Over the years, many types of software have been developed to support student learning. The various types of

Taming Log Files from Game/Simulation-Based Assessments: Data Models and Data Analysis Tools. Research Report. ETS RR-16-10

ERIC Educational Resources Information Center

Hao, Jiangang; Smith, Lawrence; Mislevy, Robert; von Davier, Alina; Bauer, Malcolm

2016-01-01

Extracting information efficiently from game/simulation-based assessment (G/SBA) logs requires two things: a well-structured log file and a set of analysis methods. In this report, we propose a generic data model specified as an extensible markup language (XML) schema for the log files of G/SBAs. We also propose a set of analysis methods for…

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

PubMed Central

Ukat, M.; Schweikert, H. U.; Hiort, O.; Werner, R.; Drop, S. L. S.; Cools, M.; Hughes, I. A.; Audi, L.; Ahmed, S. F.; Demiri, J.; Rodens, P.; Worch, L.; Wehner, G.; Kulle, A. E.; Dunstheimer, D.; Müller-Roßberg, E.; Reinehr, T.; Hadidi, A. T.; Eckstein, A. K.; van der Horst, C.; Seif, C.; Siebert, R.; Ammerpohl, O.; Holterhus, P.-M.

2016-01-01

Context: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. Objective: The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. Design: Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus. Setting: The study was conducted at a university hospital endocrine research laboratory. Patients: GFs from 169 individuals were studied encompassing control males (n = 68), molecular defined DSD other than androgen insensitivity syndrome (AIS; n = 18), AR mutation-positive AIS (n = 37), and previously undiagnosed DSD including patients with a clinical suspicion of AIS (n = 46). Intervention(s): There were no interventions. Main Outcome Measure(s): DHT-dependent APOD expression in cultured GF and AR mutation status in 169 individuals was measured. Results: The APOD assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff < 2.3-fold APOD-induction; 100% sensitivity, 93.3% specificity, P < .0001). Of 46 DSD individuals with no AR mutation, 17 (37%) fell below the cutoff, indicating disrupted androgen signaling. Conclusions: AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance. PMID:27583472

On Study of Air/Space-borne Dual-Wavelength Radar for Estimates of Rain Profiles

NASA Technical Reports Server (NTRS)

Liao, Liang; Meneghini, Robert

2004-01-01

In this study, a framework is discussed to apply air/space-borne dual-wavelength radar for the estimation of characteristic parameters of hydrometeors. The focus of our study is on the Global Precipitation Measurements (GPM) precipitation radar, a dual-wavelength radar that operates at Ku (13.8 GHz) and Ka (35 GHz) bands. As the droplet size distributions (DSD) of rain are expressed as the Gamma function, a procedure is described to derive the median volume diameter (D(sub 0)) and particle number concentration (N(sub T)) of rain. The correspondences of an important quantity of dual-wavelength radar, defined as deferential frequency ratio (DFR), to the D(sub 0) in the melting region are given as a function of the distance from the 0 C isotherm. A self-consistent iterative algorithm that shows a promising to account for rain attenuation of radar and infer the DSD without use of surface reference technique (SRT) is examined by applying it to the apparent radar reflectivity profiles simulated from the DSD model and then comparing the estimates with the model (true) results. For light to moderate rain the self-consistent rain profiling approach converges to unique and correct solutions only if the same shape factors of Gamma functions are used both to generate and retrieve the rain profiles, but does not converges to the true solutions if the DSD form is not chosen correctly. To further examine the dual-wavelength techniques, the self-consistent algorithm, along with forward and backward rain profiling algorithms, is then applied to the measurements taken from the 2nd generation Precipitation Radar (PR-2) built by Jet Propulsion Laboratory. It is found that rain profiles estimated from the forward and backward approaches are not sensitive to shape factor of DSD Gamma distribution, but the self-consistent method is.

The evolutionary dynamics of language.

PubMed

Steels, Luc; Szathmáry, Eörs

2018-02-01

The well-established framework of evolutionary dynamics can be applied to the fascinating open problems how human brains are able to acquire and adapt language and how languages change in a population. Schemas for handling grammatical constructions are the replicating unit. They emerge and multiply with variation in the brains of individuals and undergo selection based on their contribution to needed expressive power, communicative success and the reduction of cognitive effort. Adopting this perspective has two major benefits. (i) It makes a bridge to neurobiological models of the brain that have also adopted an evolutionary dynamics point of view, thus opening a new horizon for studying how human brains achieve the remarkably complex competence for language. And (ii) it suggests a new foundation for studying cultural language change as an evolutionary dynamics process. The paper sketches this novel perspective, provides references to empirical data and computational experiments, and points to open problems. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Systematic plan of building Web geographic information system based on ActiveX control

NASA Astrophysics Data System (ADS)

Zhang, Xia; Li, Deren; Zhu, Xinyan; Chen, Nengcheng

2003-03-01

A systematic plan of building Web Geographic Information System (WebGIS) using ActiveX technology is proposed in this paper. In the proposed plan, ActiveX control technology is adopted in building client-side application, and two different schemas are introduced to implement communication between controls in users¡ browser and middle application server. One is based on Distribute Component Object Model (DCOM), the other is based on socket. In the former schema, middle service application is developed as a DCOM object that communicates with ActiveX control through Object Remote Procedure Call (ORPC) and accesses data in GIS Data Server through Open Database Connectivity (ODBC). In the latter, middle service application is developed using Java language. It communicates with ActiveX control through socket based on TCP/IP and accesses data in GIS Data Server through Java Database Connectivity (JDBC). The first one is usually developed using C/C++, and it is difficult to develop and deploy. The second one is relatively easy to develop, but its performance of data transfer relies on Web bandwidth. A sample application is developed using the latter schema. It is proved that the performance of the sample application is better than that of some other WebGIS applications in some degree.

Sex steroids and variants of gender identity.

PubMed

Meyer-Bahlburg, Heino F L

2013-09-01

This article summarizes for the practicing endocrinologist the current literature on the psychobiology of the development of gender identity and its variants in individuals with disorders of sex development (DSD) or with non-DSD transgenderism. Gender reassignment remains the treatment of choice for strong and persistent gender dysphoria in both categories, but more research is needed on the short-term and long-term effects of puberty-suppressing medications and cross-sex hormones on brain and behavior. Copyright © 2013 Elsevier Inc. All rights reserved.

FRACTAL DIMENSION OF SPIN-GLASSES INTERFACES IN DIMENSION d = 2 AND d = 3 VIA STRONG DISORDER RENORMALIZATION AT ZERO TEMPERATURE

NASA Astrophysics Data System (ADS)

Monthus, Cécile

2015-09-01

For Gaussian Spin-Glasses in low dimensions, we introduce a simple Strong Disorder renormalization at zero temperature in order to construct ground states for Periodic and Anti-Periodic boundary conditions. The numerical study in dimensions d = 2 (up to sizes 20482) and d = 3 (up to sizes 1283) yields that Domain Walls are fractal of dimensions ds(d = 2) ≃ 1.27 and ds(d = 3) ≃ 2.55, respectively.

Notes on the ExactPack Implementation of the DSD Explosive Arc Solver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaul, Ann; Doebling, Scott William

It has been shown above that the discretization scheme implemented in the ExactPack solver for the DSD Explosive Arc equation is consistent with the Explosive Arc PDE. In addition, a stability analysis has provided a CFL condition for a stable time step. Together, consistency and stability imply convergence of the scheme, which is expected to be close to first-order in time and second-order in space. It is understood that the nonlinearity of the underlying PDE will affect this rate somewhat.

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

PubMed

Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

2013-01-01

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.

PubMed

Ilaslan, Erkut; Calvel, Pierre; Nowak, Dominika; Szarras-Czapnik, Maria; Slowikowska-Hilczer, Jolanta; Spik, Anna; Sararols, Pauline; Nef, Serge; Jaruzelska, Jadwiga; Kusz-Zamelczyk, Kamila

2018-06-08

Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis. Based on the phenotypes of our patients, we propose a dual role of STARD8 in sexual development, namely in testes determination and testosterone synthesis. However, further studies are needed to confirm the involvement of STARD8 in sexual development. © 2018 S. Karger AG, Basel.

Parenting characteristics of female caregivers of children affected by chronic endocrine conditions: a comparison between disorders of sex development and type 1 diabetes mellitus.

PubMed

Kirk, Katherine D; Fedele, David A; Wolfe-Christensen, Cortney; Phillips, Timothy M; Mazur, Tom; Mullins, Larry L; Chernausek, Steven D; Wisniewski, Amy B

2011-12-01

Rearing a child with a chronic illness is stressful and can potentially affect parenting style, which may result in poorer outcomes for children. The purpose of this study was to compare parenting characteristics of female caregivers rearing children with a disorder of sex development (DSD) to female caregivers rearing children with type 1 diabetes mellitus (T1DM). Caregivers of both groups were matched according to age and compared on measures of stress and parenting practices. Both groups demonstrated significant levels of stress and negative parenting practices. Children with T1DM and male children with non-life-threatening DSD were perceived as more vulnerable by their caregivers. Better understanding of parenting experiences of female caregivers rearing children with DSD, particularly male children, will facilitate the development of individualized interventions to ameliorate negative parenting practices and stress, with the long-term goal of improved health outcomes for their children. Copyright © 2011 Elsevier Inc. All rights reserved.

Automated Hierarchical to CODASYL (Conference on Data Systems Languages) Database Interface Schema Translator.

DTIC Science & Technology

1983-12-16

management system (DBMS) is to record and maintain information used by an organization in the organization’s decision-making process. Some advantages of a...independence. Database Management Systems are classified into three major models; relational, network, and hierarchical. Each model uses a software...feeling impedes the overall effectiveness of the 4-" Acquisition Management Information System (AMIS), which currently uses S2k. The size of the AMIS

Sign language indexation within the MPEG-7 framework

NASA Astrophysics Data System (ADS)

Zaharia, Titus; Preda, Marius; Preteux, Francoise J.

1999-06-01

In this paper, we address the issue of sign language indexation/recognition. The existing tools, like on-like Web dictionaries or other educational-oriented applications, are making exclusive use of textural annotations. However, keyword indexing schemes have strong limitations due to the ambiguity of the natural language and to the huge effort needed to manually annotate a large amount of data. In order to overcome these drawbacks, we tackle sign language indexation issue within the MPEG-7 framework and propose an approach based on linguistic properties and characteristics of sing language. The method developed introduces the concept of over time stable hand configuration instanciated on natural or synthetic prototypes. The prototypes are indexed by means of a shape descriptor which is defined as a translation, rotation and scale invariant Hough transform. A very compact representation is available by considering the Fourier transform of the Hough coefficients. Such an approach has been applied to two data sets consisting of 'Letters' and 'Words' respectively. The accuracy and robustness of the result are discussed and a compete sign language description schema is proposed.

Associations of SRAP markers with dried-shrink disease resistance in a germplasm collection of sea buckthorn (Hippophae L.).

PubMed

Li, He; Ruan, Cheng-Jiang; Teixeira da Silva, Jaime A; Liu, Bao-Quan

2010-06-01

Sea buckthorn (Hippophae L.) is a woody, outcrossing dioecious pioneer plant, being widely planted as a new berry crop with rich nutritional and medicinal compounds. This long-juvenile and long-lived woody plant can be more difficult to cultivate than other crop plants. Dried-shrink disease (DSD) is a dangerous pathogen that destroys sea buckthorn and halts commercial production. We estimated variability of sequence-related amplified polymorphism (SRAP) markers in 77 accessions of 22 sea buckthorn cultivars to seek markers associated with DSD resistance and help to identify potential breeding cultivars. Seventeen SRAP primer combinations generated 289 bands, with a mean of 17 bands per primer combination. At a Dice coefficient of 0.852, the dendrogram generated with 191 polymorphic bands clustered 73 accessions of Hippophae rhamnoides into 2 groups and 4 accessions of Hippophae salicifolia into 1 group. Eleven SRAP markers (Me1-Em3(600), Me1-Em1(680), Me2-Em1(650), Me2-Em1(950), Me3-Em6(1300), Me2-Em6(320), Me2-Em6(400), Me1-Em2(600), Me1-Em1(1200), Me1-Em1(1700), Me2-Em2(250)) were significantly correlated with DSD resistance (P < 0.001). These markers provide a viable option for breeding programs that select lineages with DSD resistance, especially when no other genetic information, such as linkage maps and quantitative trait loci, are available.

Manual praxis in stone tool manufacture: implications for language evolution.

PubMed

Ruck, Lana

2014-12-01

Alternative functions of the left-hemisphere dominant Broca's region have induced hypotheses regarding the evolutionary parallels between manual praxis and language in humans. Many recent studies on Broca's area reveal several assumptions about the cognitive mechanisms that underlie both functions, including: (1) an accurate, finely controlled body schema, (2) increasing syntactical abilities, particularly for goal-oriented actions, and (3) bilaterality and fronto-parietal connectivity. Although these characteristics are supported by experimental paradigms, many researchers have failed to acknowledge a major line of evidence for the evolutionary development of these traits: stone tools. The neuroscience of stone tool manufacture is a viable proxy for understanding evolutionary aspects of manual praxis and language, and may provide key information for evaluating competing hypotheses on the co-evolution of these cognitive domains in our species. Copyright © 2014 Elsevier Inc. All rights reserved.

An electronic specimen collection protocol schema (eSCPS). Document architecture for specimen management and the exchange of specimen collection protocols between biobanking information systems.

PubMed

Eminaga, O; Semjonow, A; Oezguer, E; Herden, J; Akbarov, I; Tok, A; Engelmann, U; Wille, S

2014-01-01

The integrity of collection protocols in biobanking is essential for a high-quality sample preparation process. However, there is not currently a well-defined universal method for integrating collection protocols in the biobanking information system (BIMS). Therefore, an electronic schema of the collection protocol that is based on Extensible Markup Language (XML) is required to maintain the integrity and enable the exchange of collection protocols. The development and implementation of an electronic specimen collection protocol schema (eSCPS) was performed at two institutions (Muenster and Cologne) in three stages. First, we analyzed the infrastructure that was already established at both the biorepository and the hospital information systems of these institutions and determined the requirements for the sufficient preparation of specimens and documentation. Second, we designed an eSCPS according to these requirements. Finally, a prospective study was conducted to implement and evaluate the novel schema in the current BIMS. We designed an eSCPS that provides all of the relevant information about collection protocols. Ten electronic collection protocols were generated using the supplementary Protocol Editor tool, and these protocols were successfully implemented in the existing BIMS. Moreover, an electronic list of collection protocols for the current studies being performed at each institution was included, new collection protocols were added, and the existing protocols were redesigned to be modifiable. The documentation time was significantly reduced after implementing the eSCPS (5 ± 2 min vs. 7 ± 3 min; p = 0.0002). The eSCPS improves the integrity and facilitates the exchange of specimen collection protocols in the existing open-source BIMS.

Use of Schema on Read in Earth Science Data Archives

NASA Astrophysics Data System (ADS)

Petrenko, M.; Hegde, M.; Smit, C.; Pilone, P.; Pham, L.

2017-12-01

Traditionally, NASA Earth Science data archives have file-based storage using proprietary data file formats, such as HDF and HDF-EOS, which are optimized to support fast and efficient storage of spaceborne and model data as they are generated. The use of file-based storage essentially imposes an indexing strategy based on data dimensions. In most cases, NASA Earth Science data uses time as the primary index, leading to poor performance in accessing data in spatial dimensions. For example, producing a time series for a single spatial grid cell involves accessing a large number of data files. With exponential growth in data volume due to the ever-increasing spatial and temporal resolution of the data, using file-based archives poses significant performance and cost barriers to data discovery and access. Storing and disseminating data in proprietary data formats imposes an additional access barrier for users outside the mainstream research community. At the NASA Goddard Earth Sciences Data Information Services Center (GES DISC), we have evaluated applying the "schema-on-read" principle to data access and distribution. We used Apache Parquet to store geospatial data, and have exposed data through Amazon Web Services (AWS) Athena, AWS Simple Storage Service (S3), and Apache Spark. Using the "schema-on-read" approach allows customization of indexing—spatial or temporal—to suit the data access pattern. The storage of data in open formats such as Apache Parquet has widespread support in popular programming languages. A wide range of solutions for handling big data lowers the access barrier for all users. This presentation will discuss formats used for data storage, frameworks with support for "schema-on-read" used for data access, and common use cases covering data usage patterns seen in a geospatial data archive.

Use of Schema on Read in Earth Science Data Archives

NASA Technical Reports Server (NTRS)

Hegde, Mahabaleshwara; Smit, Christine; Pilone, Paul; Petrenko, Maksym; Pham, Long

2017-01-01

Traditionally, NASA Earth Science data archives have file-based storage using proprietary data file formats, such as HDF and HDF-EOS, which are optimized to support fast and efficient storage of spaceborne and model data as they are generated. The use of file-based storage essentially imposes an indexing strategy based on data dimensions. In most cases, NASA Earth Science data uses time as the primary index, leading to poor performance in accessing data in spatial dimensions. For example, producing a time series for a single spatial grid cell involves accessing a large number of data files. With exponential growth in data volume due to the ever-increasing spatial and temporal resolution of the data, using file-based archives poses significant performance and cost barriers to data discovery and access. Storing and disseminating data in proprietary data formats imposes an additional access barrier for users outside the mainstream research community. At the NASA Goddard Earth Sciences Data Information Services Center (GES DISC), we have evaluated applying the schema-on-read principle to data access and distribution. We used Apache Parquet to store geospatial data, and have exposed data through Amazon Web Services (AWS) Athena, AWS Simple Storage Service (S3), and Apache Spark. Using the schema-on-read approach allows customization of indexing spatially or temporally to suit the data access pattern. The storage of data in open formats such as Apache Parquet has widespread support in popular programming languages. A wide range of solutions for handling big data lowers the access barrier for all users. This presentation will discuss formats used for data storage, frameworks with This presentation will discuss formats used for data storage, frameworks with support for schema-on-read used for data access, and common use cases covering data usage patterns seen in a geospatial data archive.

Managing Communication among Geographically Distributed Teams: A Brazilian Case

NASA Astrophysics Data System (ADS)

Almeida, Ana Carina M.; de Farias Junior, Ivaldir H.; de S. Carneiro, Pedro Jorge

The growing demand for qualified professionals is making software companies opt for distributed software development (DSD). At the project conception, communication and synchronization of information are critical factors for success. However problems such as time-zone difference between teams, culture, language and different development processes among sites could difficult the communication among teams. In this way, the main goal of this paper is to describe the solution adopted by a Brazilian team to improve communication in a multisite project environment. The purposed solution was based on the best practices described in the literature, and the communication plan was created based on the infrastructure needed by the project. The outcome of this work is to minimize the impact of communication issues in multisite projects, increasing productivity, good understanding and avoiding rework on code and document writing.

GeoGML - a Mark-up Language for 4-dimensional geomorphic objects and processes

NASA Astrophysics Data System (ADS)

Löwner, M.-O.

2009-04-01

We developed an use-oriented GML3 based data model that enables researchers to share 4-dimensional information about landforms and their process related interaction. Using the Unified Modelling Language it is implemented as a GML3-based application schema available on the Internet. As the science of the land's surface Geomorphology investigates landforms, their change, and the processes causing this change. The main problem of comparing research results in geomorphology is that the objects under investigation are composed of 3-dimensional geometries that change in time due to processes of material fluxes, e. g. soil erosion or mass movements. They have internal properties, e. g. soil texture or bulk density, that determine the effectiveness of these processes but are under change as well. Worldwide geographical data can be shared over the Internet using Web Feature Services. The precondition is the development of a semantic model or ontology based on international standards like GML3 as an implementation of the ISO 109107 and others. Here we present a GML3-based Mark-up Language or application schema for geomorphic purposes that fulfils the following requirements: First, an object-oriented view of landforms with a true 3-dimensional geometric data format was established. Second, the internal structure and attributes of landforms can be stored. Third, the interaction of processes and landforms is represented. Fourth, the change of all these mentioned attributes over time was considered. The presented application schema is available on the Internet and therefore a first step to enable researchers to share information using an OGC's Web feature service. In this vein comparing modelling results of landscape evolution with results of other scientist's observations is possible. Compared to prevalent data concepts the model presented makes it possible to store information about landforms, their geometry and the characteristics in more detail. It allows to represent the 3D-geometry, the set of material properties and the genesis of a landform by associating processes to a geoobject. Thus, time slices of a geomorphic system can be represented as well as scenarios of landscape modelling. Commercial GI-software is not adapted to the needs of the science of geomorphology. Therefore the development of an application model i. e. a formal description of semantics is imperative to partake in technologies like Web Feature Services supporting interoperable data transfer.

Synthetic event-related potentials: a computational bridge between neurolinguistic models and experiments.

PubMed

Barrès, Victor; Simons, Arthur; Arbib, Michael

2013-01-01

Our previous work developed Synthetic Brain Imaging to link neural and schema network models of cognition and behavior to PET and fMRI studies of brain function. We here extend this approach to Synthetic Event-Related Potentials (Synthetic ERP). Although the method is of general applicability, we focus on ERP correlates of language processing in the human brain. The method has two components: Phase 1: To generate cortical electro-magnetic source activity from neural or schema network models; and Phase 2: To generate known neurolinguistic ERP data (ERP scalp voltage topographies and waveforms) from putative cortical source distributions and activities within a realistic anatomical model of the human brain and head. To illustrate the challenges of Phase 2 of the methodology, spatiotemporal information from Friederici's 2002 model of auditory language comprehension was used to define cortical regions and time courses of activation for implementation within a forward model of ERP data. The cortical regions from the 2002 model were modeled using atlas-based masks overlaid on the MNI high definition single subject cortical mesh. The electromagnetic contribution of each region was modeled using current dipoles whose position and orientation were constrained by the cortical geometry. In linking neural network computation via EEG forward modeling to empirical results in neurolinguistics, we emphasize the need for neural network models to link their architecture to geometrically sound models of the cortical surface, and the need for conceptual models to refine and adopt brain-atlas based approaches to allow precise brain anchoring of their modules. The detailed analysis of Phase 2 sets the stage for a brief introduction to Phase 1 of the program, including the case for a schema-theoretic approach to language production and perception presented in detail elsewhere. Unlike Dynamic Causal Modeling (DCM) and Bojak's mean field model, Synthetic ERP builds on models of networks that mediate the relation between the brain's inputs, outputs, and internal states in executing a specific task. The neural networks used for Synthetic ERP must include neuroanatomically realistic placement and orientation of the cortical pyramidal neurons. These constraints pose exciting challenges for future work in neural network modeling that is applicable to systems and cognitive neuroscience. Copyright © 2012 Elsevier Ltd. All rights reserved.

Neurobiology of Schemas and Schema-Mediated Memory.

PubMed

Gilboa, Asaf; Marlatte, Hannah

2017-08-01

Schemas are superordinate knowledge structures that reflect abstracted commonalities across multiple experiences, exerting powerful influences over how events are perceived, interpreted, and remembered. Activated schema templates modulate early perceptual processing, as they get populated with specific informational instances (schema instantiation). Instantiated schemas, in turn, can enhance or distort mnemonic processing from the outset (at encoding), impact offline memory transformation and accelerate neocortical integration. Recent studies demonstrate distinctive neurobiological processes underlying schema-related learning. Interactions between the ventromedial prefrontal cortex (vmPFC), hippocampus, angular gyrus (AG), and unimodal associative cortices support context-relevant schema instantiation and schema mnemonic effects. The vmPFC and hippocampus may compete (as suggested by some models) or synchronize (as suggested by others) to optimize schema-related learning depending on the specific operationalization of schema memory. This highlights the need for more precise definitions of memory schemas. Copyright © 2017 Elsevier Ltd. All rights reserved.

Effects of the Schema Therapy and Mindfulness on the Maladaptive Schemas Hold by the Psoriasis Patients with the Psychopathology Symptoms

PubMed Central

Gojani, Parvin Jamali; Masjedi, Mohsen; Khaleghipour, Shahnaz; Behzadi, Ehsan

2017-01-01

Background: This study aimed to compare the effects of the schema along with mindfulness-based therapies in the psoriasis patients. Materials and Methods: This semi-experimental study with post- and pre-tests was conducted on the psoriasis patients in the Dermatology Clinic of the Isfahan Alzahra Hospital, Iran using the convenience sampling in 2014. The patients had a low general health score. The experimental groups included two treatment groups of schema-based (n = 8) and mindfulness (n = 8). Both groups received eight 90-min sessions therapy once a week; they were compared with 8 patients in the control group. To evaluate the psoriasis patients’ maladaptive schema, Young schema questionnaire was used. Data were analyzed through the covariance analysis test. Results: There was a significant difference between the schema-based therapy and mindfulness groups with the control group. There was also a significant difference between the schema-based therapy groups consisting of the defeated schema, dependence/incompetence schema, devotion schema, stubbornly criteria schema, merit schema, restraint/inadequate self-discipline schema, and the control group. Moreover, a significant difference existed between the maladaptive schema of mindfulness therapy group and the controls. There was a significant difference concerning the improvement of the psychopathologic symptoms between the mindfulness therapy group and the control group. Conclusions: This study showed similar effects of both the schema and mindfulness-based therapies on the maladaptive schemas in improving the psoriasis patients with the psychopathologic symptoms. PMID:28217649

The Reader Effect (Instruction/Awareness of Text Structure) and Text Effect (Well-Structured vs. Bad-Structured Texts) on First and Second/Foreign Language Reading Comprehension and Recall--What Does Research Teach Us?

ERIC Educational Resources Information Center

Chang, Carrie

This paper first gives a brief chronological overview of reading theory development and a short introduction to schema theory, and then comprehensively reviews, comments, and synthesizes research-based studies, published between 1980 and 2002, that examined the effect of text structure (reader effect and text effect) on L1 and L2 reading…

Design and implementation of CUAHSI WaterML and WaterOneFlow Web Services

NASA Astrophysics Data System (ADS)

Valentine, D. W.; Zaslavsky, I.; Whitenack, T.; Maidment, D.

2007-12-01

WaterOneFlow is a term for a group of web services created by and for the Consortium of Universities for the Advancement of Hydrologic Science, Inc. (CUAHSI) community. CUAHSI web services facilitate the retrieval of hydrologic observations information from online data sources using the SOAP protocol. CUAHSI Water Markup Language (below referred to as WaterML) is an XML schema defining the format of messages returned by the WaterOneFlow web services. \

The FLOW Tutor: Schemas for Tutoring.

DTIC Science & Technology

1977-05-01

1 ~~ Donald R. Gentner Donald A . Norm an THE FLOW TUTOR: SCHEM AS FOR TUTORING H D D C ss~~~ UNIVERSiTY OF CALIFO RNIA , SAN DIEGO LA JOLLA...individualized in— struction , instructional theory, model of the student , representation of information , sc ’ nema , sema ntic ne twork , teaching...I ~~r giving adv ice to a studen t learning ~ simp1e 1~computer language .The tutor has a schema—based knowledge structure

Hybrid Schema Matching for Deep Web

NASA Astrophysics Data System (ADS)

Chen, Kerui; Zuo, Wanli; He, Fengling; Chen, Yongheng

Schema matching is the process of identifying semantic mappings, or correspondences, between two or more schemas. Schema matching is a first step and critical part of data integration. For schema matching of deep web, most researches only interested in query interface, while rarely pay attention to abundant schema information contained in query result pages. This paper proposed a mixed schema matching technique, which combines attributes that appeared in query structures and query results of different data sources, and mines the matched schemas inside. Experimental results prove the effectiveness of this method for improving the accuracy of schema matching.

Predicting Host Level Reachability via Static Analysis of Routing Protocol Configuration

DTIC Science & Technology

2007-09-01

check_function_bodies = false; SET client_min_messages = warning; -- -- Name: SCHEMA public; Type: COMMENT; Schema: -; Owner: postgres -- COMMENT...public; Owner: mcmanst -- -- -- Name: public; Type: ACL; Schema: -; Owner: postgres -- REVOKE ALL ON SCHEMA public FROM PUBLIC; REVOKE...ALL ON SCHEMA public FROM postgres ; GRANT ALL ON SCHEMA public TO postgres ; GRANT ALL ON SCHEMA public TO PUBLIC; -- -- PostgreSQL database

Cross Validation of Rain Drop Size Distribution between GPM and Ground Based Polarmetric radar

NASA Astrophysics Data System (ADS)

Chandra, C. V.; Biswas, S.; Le, M.; Chen, H.

2017-12-01

Dual-frequency precipitation radar (DPR) on board the Global Precipitation Measurement (GPM) core satellite has reflectivity measurements at two independent frequencies, Ku- and Ka- band. Dual-frequency retrieval algorithms have been developed traditionally through forward, backward, and recursive approaches. However, these algorithms suffer from "dual-value" problem when they retrieve medium volume diameter from dual-frequency ratio (DFR) in rain region. To this end, a hybrid method has been proposed to perform raindrop size distribution (DSD) retrieval for GPM using a linear constraint of DSD along rain profile to avoid "dual-value" problem (Le and Chandrasekar, 2015). In the current GPM level 2 algorithm (Iguchi et al. 2017- Algorithm Theoretical Basis Document) the Solver module retrieves a vertical profile of drop size distributionn from dual-frequency observations and path integrated attenuations. The algorithm details can be found in Seto et al. (2013) . On the other hand, ground based polarimetric radars have been used for a long time to estimate drop size distributions (e.g., Gorgucci et al. 2002 ). In addition, coincident GPM and ground based observations have been cross validated using careful overpass analysis. In this paper, we perform cross validation on raindrop size distribution retrieval from three sources, namely the hybrid method, the standard products from the solver module and DSD retrievals from ground polarimetric radars. The results are presented from two NEXRAD radars located in Dallas -Fort Worth, Texas (i.e., KFWS radar) and Melbourne, Florida (i.e., KMLB radar). The results demonstrate the ability of DPR observations to produce DSD estimates, which can be used subsequently to generate global DSD maps. References: Seto, S., T. Iguchi, T. Oki, 2013: The basic performance of a precipitation retrieval algorithm for the Global Precipitation Measurement mission's single/dual-frequency radar measurements. IEEE Transactions on Geoscience and Remote Sensing, 51(12), 5239-5251. Gorgucci, E., Chandrasekar, V., Bringi, V. N., and Scarchilli, G.: Estimation of Raindrop Size Distribution Parameters from Polarimetric Radar Measurements, J. Atmos. Sci., 59, 2373-2384, doi:10.1175/1520-0469(2002)0592.0.CO;2, 2002.

Speech disruptions in relation to language growth in children who stutter: an exploratory study.

PubMed

Wagovich, Stacy A; Hall, Nancy E; Clifford, Betsy A

2009-12-01

Young children with typical fluency demonstrate a range of disfluencies, or speech disruptions. One type of disruption, revision, appears to increase in frequency as syntactic skills develop. To date, this phenomenon has not been studied in children who stutter (CWS). Rispoli, Hadley, and Holt (2008) suggest a schema for categorizing speech disruptions in terms of revisions and stalls. The purpose of this exploratory study was to use this schema to evaluate whether CWS show a pattern over time in their production of stuttering, revisions, and stalls. Nine CWS, ages 2;1 to 4;11, participated in the study, producing language samples each month for 10 months. MLU and vocd analyses were performed for samples across three time periods. Active declarative sentences within these samples were examined for the presence of disruptions. Results indicated that the proportion of sentences containing revisions increased over time, but proportions for stalls and stuttering did not. Visual inspection revealed that more stuttering and stalls occurred on longer utterances than on shorter utterances. Upon examination of individual children's language, it appears two-thirds of the children showed a pattern in which, as MLU increased, revisions increased as well. Findings are similar to studies of children with typical fluency, suggesting that, despite the fact that CWS display more (and different) disfluencies relative to typically fluent peers, revisions appear to increase over time and correspond to increases in MLU, just as is the case with peers. The reader will be able to: (1) describe the three types of speech disruptions assessed in this article; (2) compare present findings of disruptions in children who stutter to findings of previous research with children who are typically fluent; and (3) discuss future directions in this area of research, given the findings and implications of this study.

Design and implementation of handheld and desktop software for the structured reporting of hepatic masses using the LI-RADS schema.

PubMed

Clark, Toshimasa J; McNeeley, Michael F; Maki, Jeffrey H

2014-04-01

The Liver Imaging Reporting and Data System (LI-RADS) can enhance communication between radiologists and clinicians if applied consistently. We identified an institutional need to improve liver imaging report standardization and developed handheld and desktop software to serve this purpose. We developed two complementary applications that implement the LI-RADS schema. A mobile application for iOS devices written in the Objective-C language allows for rapid characterization of hepatic observations under a variety of circumstances. A desktop application written in the Java language allows for comprehensive observation characterization and standardized report text generation. We chose the applications' languages and feature sets based on the computing resources of target platforms, anticipated usage scenarios, and ease of application installation, deployment, and updating. Our primary results are the publication of the core source code implementing the LI-RADS algorithm and the availability of the applications for use worldwide via our website, http://www.liradsapp.com/. The Java application is free open-source software that can be integrated into nearly any vendor's reporting system. The iOS application is distributed through Apple's iTunes App Store. Observation categorizations of both programs have been manually validated to be correct. The iOS application has been used to characterize liver tumors during multidisciplinary conferences of our institution, and several faculty members, fellows, and residents have adopted the generated text of Java application into their diagnostic reports. Although these two applications were developed for the specific reporting requirements of our liver tumor service, we intend to apply this development model to other diseases as well. Through semiautomated structured report generation and observation characterization, we aim to improve patient care while increasing radiologist efficiency. Published by Elsevier Inc.

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

PubMed

Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

2010-01-01

There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PubMed

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A; Looijenga, Leendert H J; De Baere, Elfride; Cools, Martine

2017-04-01

We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.

Plant utilization against digestive system disorder in Southern Assam, India.

PubMed

Choudhury, Prakash Roy; Choudhury, Manabendra Dutta; Ningthoujam, Sanjoy Singh; Mitra, Abhijit; Nath, Deepa; Talukdar, Anupam Das

2015-12-04

Being one of the most common types of life threatening diseases in Southern Assam, India, the digestive system disorders (DSD) have gained much attention in recent decades. Traditional beliefs and inadequate income of mass population result in the use of alternative phytotherapies to treat the diseases. The present paper documents the medicinal knowledge and utilization of plants for treatment of digestive system disorders in Southern Assam, India by Disease Consensus Index (DCI). It also determines the most suitable plant species used to treat digestive system disorders in the study area. The study was based on ethnomedicinal field survey covering a period of 1 year from 2014-2015. The ethnomedicinal information was collected by using semi-structured questionnaires from different traditional Bengali people having knowledge on medicinal plants. Collected data were analyzed by calculating DCI. During the survey, 29 informants were interviewed and a total of 49 plants under 46 genera belonging to 33 families were listed. Data analysis revealed that Litsea glutinosa, Momordica charantia, Andrographis paniculata, Lawsonia inermis, Cleome viscosa, Psidium guajava, Ageratum conyzoides, Cuscuta reflexa, Cynodon dactylon and Carica papaya are the most prominent plants among the people of Southern Assam for treating DSD. This explorative survey emphasizes the need to preserve and document the traditional healing practices for managing DSD inviting for more imminent scientific research on the plants to determine their efficacy as well as safety. With the help of statistical analysis (DCI), we propose 10 priority plants for DSD in present work. Systematic pharmacological study with these plants may contribute significant result. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

PubMed Central

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A.; Looijenga, Leendert H.J.; De Baere, Elfride; Cools, Martine

2017-01-01

Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. Results: We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. Conclusions: We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad. Genet Med 19 4, 367–376. PMID:27490115

Climatological characteristics of raindrop size distributions within a topographically complex area

NASA Astrophysics Data System (ADS)

Suh, S.-H.; You, C.-H.; Lee, D.-I.

2015-04-01

Raindrop size distribution (DSD) characteristics within the complex area of Busan, Korea (35.12° N, 129.10° E) were studied using a Precipitation Occurrence Sensor System (POSS) disdrometer over a four-year period from 24 February 2001 to 24 December 2004. Average DSD parameters in Busan, a mid-latitude site, were compared with corresponding parameters recorded in the high-latitude site of Järvenpää, Finland. Mean values of median drop diameter (D0) and the shape parameter (μ) in Busan are smaller than those in Järvenpää, whereas the mean normalized intercept parameter (Nw) and rainfall rate (R) are higher in Busan. To analyze the climatological DSD characteristics in more detail, the entire period of recorded rainfall was divided into 10 categories with different temporal and spatial scales. When only convective rainfall was considered, mean Dm and Nw values for all these categories converged around a maritime cluster, except for rainfall associated with typhoons. The convective rainfall of a typhoon showed much smaller Dm and larger Nw compared with the other rainfall categories. In terms of diurnal DSD variability, we observe maritime (continental) precipitation during the daytime (DT) (nighttime, NT), which likely results from sea (land) breeze identified through wind direction analysis. These features also appeared in the seasonal diurnal distribution. The DT and NT Probability Density Function (PDF) during the summer was similar to the PDF of the entire study period. However, the DT and NT PDF during the winter season displayed an inverse distribution due to seasonal differences in wind direction.

Using Web Ontology Language to Integrate Heterogeneous Databases in the Neurosciences

PubMed Central

Lam, Hugo Y.K.; Marenco, Luis; Shepherd, Gordon M.; Miller, Perry L.; Cheung, Kei-Hoi

2006-01-01

Integrative neuroscience involves the integration and analysis of diverse types of neuroscience data involving many different experimental techniques. This data will increasingly be distributed across many heterogeneous databases that are web-accessible. Currently, these databases do not expose their schemas (database structures) and their contents to web applications/agents in a standardized, machine-friendly way. This limits database interoperation. To address this problem, we describe a pilot project that illustrates how neuroscience databases can be expressed using the Web Ontology Language, which is a semantically-rich ontological language, as a common data representation language to facilitate complex cross-database queries. In this pilot project, an existing tool called “D2RQ” was used to translate two neuroscience databases (NeuronDB and CoCoDat) into OWL, and the resulting OWL ontologies were then merged. An OWL-based reasoner (Racer) was then used to provide a sophisticated query language (nRQL) to perform integrated queries across the two databases based on the merged ontology. This pilot project is one step toward exploring the use of semantic web technologies in the neurosciences. PMID:17238384

Heterogeneous database integration in biomedicine.

PubMed

Sujansky, W

2001-08-01

The rapid expansion of biomedical knowledge, reduction in computing costs, and spread of internet access have created an ocean of electronic data. The decentralized nature of our scientific community and healthcare system, however, has resulted in a patchwork of diverse, or heterogeneous, database implementations, making access to and aggregation of data across databases very difficult. The database heterogeneity problem applies equally to clinical data describing individual patients and biological data characterizing our genome. Specifically, databases are highly heterogeneous with respect to the data models they employ, the data schemas they specify, the query languages they support, and the terminologies they recognize. Heterogeneous database systems attempt to unify disparate databases by providing uniform conceptual schemas that resolve representational heterogeneities, and by providing querying capabilities that aggregate and integrate distributed data. Research in this area has applied a variety of database and knowledge-based techniques, including semantic data modeling, ontology definition, query translation, query optimization, and terminology mapping. Existing systems have addressed heterogeneous database integration in the realms of molecular biology, hospital information systems, and application portability.

On Discerning Critical Elements, Relationships and Shifts in Attaining Scientific Terms: The Challenge of Polysemy/Homonymy and Reference

NASA Astrophysics Data System (ADS)

Strömdahl, Helge R.

2012-01-01

Words with well-known meaning in colloquial language often make up an educational challenge when introduced as terms with formal scientific meaning. New connections must be established between the word, already constrained by existing meaning and reference, and the intended formal scientific meaning and reference. A two-dimensional semantic/semiotic analysing schema (acronym 2-D SAS) has been developed to clarify a given word/term in a structured mode both according to non-formal senses and referents and formal scientific meaning and referents. The schema is constructed on ideas from semantics, semiotics and history and philosophy of science. The approach is supposed to be a contribution to make a fine-gained analysis of the structure and dynamics of conceptual change. The role of referents and referent change in conceptual change is highlighted by analysing the character of the recurrent mix-up of the terms heat and temperature among students at different educational levels.

Towards a theoretical clarification of biomimetics using conceptual tools from engineering design.

PubMed

Drack, M; Limpinsel, M; de Bruyn, G; Nebelsick, J H; Betz, O

2017-12-13

Many successful examples of biomimetic products are available, and most research efforts in this emerging field are directed towards the development of specific applications. The theoretical and conceptual underpinnings of the knowledge transfer between biologists, engineers and architects are, however, poorly investigated. The present article addresses this gap. We use a 'technomorphic' approach, i.e. the application of conceptual tools derived from engineering design, to better understand the processes operating during a typical biomimetic research project. This helps to elucidate the formal connections between functions, working principles and constructions (in a broad sense)-because the 'form-function-relationship' is a recurring issue in biology and engineering. The presented schema also serves as a conceptual framework that can be implemented for future biomimetic projects. The concepts of 'function' and 'working principle' are identified as the core elements in the biomimetic knowledge transfer towards applications. This schema not only facilitates the development of a common language in the emerging science of biomimetics, but also promotes the interdisciplinary dialogue among its subdisciplines.

Testicular differentiation factor SF-1 is required for human spleen development

PubMed Central

Zangen, David; Kaufman, Yotam; Banne, Ehud; Weinberg-Shukron, Ariella; Abulibdeh, Abdulsalam; Garfinkel, Benjamin P.; Dweik, Dima; Kanaan, Moein; Camats, Núria; Flück, Christa; Renbaum, Paul; Levy-Lahad, Ephrat

2014-01-01

The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia. The R103Q mutation decreased SF-1 transactivation of TLX1, a transcription factor that has been shown to be essential for murine spleen development. Additionally, the SF1 R103Q mutation impaired activation of steroidogenic genes, without affecting synergistic SF-1 and sex-determining region Y (SRY) coactivation of the testis development gene SOX9. Together, our data provide evidence that SF-1 is required for spleen development in humans via transactivation of TLX1 and that mutations that only impair steroidogenesis, without altering the SF1/SRY transactivation of SOX9, can lead to 46,XY-DSD. PMID:24905461

DOE Office of Scientific and Technical Information (OSTI.GOV)

Miranda, Adelaide; De Beule, Pieter A. A., E-mail: pieter.de-beule@inl.int; Martins, Marco

Combined microscopy techniques offer the life science research community a powerful tool to investigate complex biological systems and their interactions. Here, we present a new combined microscopy platform based on fluorescence optical sectioning microscopy through aperture correlation microscopy with a Differential Spinning Disk (DSD) and nanomechanical mapping with an Atomic Force Microscope (AFM). The illumination scheme of the DSD microscope unit, contrary to standard single or multi-point confocal microscopes, provides a time-independent illumination of the AFM cantilever. This enables a distortion-free simultaneous operation of fluorescence optical sectioning microscopy and atomic force microscopy with standard probes. In this context, we discussmore » sample heating due to AFM cantilever illumination with fluorescence excitation light. Integration of a DSD fluorescence optical sectioning unit with an AFM platform requires mitigation of mechanical noise transfer of the spinning disk. We identify and present two solutions to almost annul this noise in the AFM measurement process. The new combined microscopy platform is applied to the characterization of a DOPC/DOPS (4:1) lipid structures labelled with a lipophilic cationic indocarbocyanine dye deposited on a mica substrate.« less

Notes on the ExactPack Implementation of the DSD Rate Stick Solver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaul, Ann

It has been shown above that the discretization scheme implemented in the ExactPack solver for the DSD Rate Stick equation is consistent with the Rate Stick PDE. In addition, a stability analysis has provided a CFL condition for a stable time step. Together, consistency and stability imply convergence of the scheme, which is expected to be close to first-order in time and second-order in space. It is understood that the nonlinearity of the underlying PDE will affect this rate somewhat. In the solver I implemented in ExactPack, I used the one-sided boundary condition described above at the outer boundary. Inmore » addition, I used 80% of the time step calculated in the stability analysis above. By making these two changes, I was able to implement a solver that calculates the solution without any arbitrary limits placed on the values of the curvature at the boundary. Thus, the calculation is driven directly by the conditions at the boundary as formulated in the DSD theory. The chosen scheme is completely coherent and defensible from a mathematical standpoint.« less

Psychometric Properties and Normative values of Early Maladaptive Schema Questionnaires Set for Children and Adolescents (SQS).

PubMed

Güner, Olcay

2017-03-01

The Early Maladaptive Schema Questionnaires Set for Children and Adolescents (SQS) was developed to assess early maladaptive schemas in children between the ages of 10 and 16 in Turkey. The SQS consists of five questionnaires that represent five schema domains in Young's schema theory. Psychometric properties (n = 983) and normative values (n = 2250) of SQS were investigated in children and adolescents between the ages of 10 and 16. Both exploratory and confirmatory factor analyses were performed. Results revealed 15 schema factors under five schema domains, with good fit indexes. A total of 14 schema factors were in line with Young's early maladaptive schemas. In addition to these factors, one new schema emerged: self-disapproval. Reliability analyses showed that SQS has high internal consistency and consistency over a 1-month interval. Correlations of SQS with the Adjective Check List (ACL), the Inventory of Parent and Peer Attachment (IPPA), the Symptom Assessment (SA-45) and the Young Schema Questionnaire (YSQ) were investigated to assess criterion validity, and the correlations revealed encouraging results. SQS significantly differentiated between children who have clinical diagnoses (n = 78) and children who have no diagnosis (n = 100). Finally, general normative values (n = 2,250) were determined for age groups, gender and age/gender groups. In conclusion, the early maladaptive schema questionnaires set for children and adolescents turned out to be a reliable and valid questionnaire with standard scores.Copyright © 2016 John Wiley & Sons, Ltd. The early maladaptive schema questionnaires set for children and adolescents (SQS) is a psychometrically reliable and valid measure of early maladaptive schemas for children between the ages of 10 and 16. SQS consists of five schema domains that represent Young's schema domains including 15 early maladaptive schemas and 97 items. Normative values for each schema were determined for age, gender and age/gender groups. Clinically, SQS presents valuable information about early maladaptive schemas during childhood and adolescence, before such schemas become more pervasive and persistent. Copyright © 2016 John Wiley & Sons, Ltd.

Empowering Provenance in Data Integration

NASA Astrophysics Data System (ADS)

Kondylakis, Haridimos; Doerr, Martin; Plexousakis, Dimitris

The provenance of data has recently been recognized as central to the trust one places in data. This paper presents a novel framework in order to empower provenance in a mediator based data integration system. We use a simple mapping language for mapping schema constructs, between an ontology and relational sources, capable to carry provenance information. This language extends the traditional data exchange setting by translating our mapping specifications into source-to-target tuple generating dependencies (s-t tgds). Then we define formally the provenance information we want to retrieve i.e. annotation, source and tuple provenance. We provide three algorithms to retrieve provenance information using information stored on the mappings and the sources. We show the feasibility of our solution and the advantages of our framework.

Building gold standard corpora for medical natural language processing tasks.

PubMed

Deleger, Louise; Li, Qi; Lingren, Todd; Kaiser, Megan; Molnar, Katalin; Stoutenborough, Laura; Kouril, Michal; Marsolo, Keith; Solti, Imre

2012-01-01

We present the construction of three annotated corpora to serve as gold standards for medical natural language processing (NLP) tasks. Clinical notes from the medical record, clinical trial announcements, and FDA drug labels are annotated. We report high inter-annotator agreements (overall F-measures between 0.8467 and 0.9176) for the annotation of Personal Health Information (PHI) elements for a de-identification task and of medications, diseases/disorders, and signs/symptoms for information extraction (IE) task. The annotated corpora of clinical trials and FDA labels will be publicly released and to facilitate translational NLP tasks that require cross-corpora interoperability (e.g. clinical trial eligibility screening) their annotation schemas are aligned with a large scale, NIH-funded clinical text annotation project.

The semantics of Chemical Markup Language (CML) for computational chemistry : CompChem.

PubMed

Phadungsukanan, Weerapong; Kraft, Markus; Townsend, Joe A; Murray-Rust, Peter

2012-08-07

: This paper introduces a subdomain chemistry format for storing computational chemistry data called CompChem. It has been developed based on the design, concepts and methodologies of Chemical Markup Language (CML) by adding computational chemistry semantics on top of the CML Schema. The format allows a wide range of ab initio quantum chemistry calculations of individual molecules to be stored. These calculations include, for example, single point energy calculation, molecular geometry optimization, and vibrational frequency analysis. The paper also describes the supporting infrastructure, such as processing software, dictionaries, validation tools and database repositories. In addition, some of the challenges and difficulties in developing common computational chemistry dictionaries are discussed. The uses of CompChem are illustrated by two practical applications.

The semantics of Chemical Markup Language (CML) for computational chemistry : CompChem

PubMed Central

2012-01-01

This paper introduces a subdomain chemistry format for storing computational chemistry data called CompChem. It has been developed based on the design, concepts and methodologies of Chemical Markup Language (CML) by adding computational chemistry semantics on top of the CML Schema. The format allows a wide range of ab initio quantum chemistry calculations of individual molecules to be stored. These calculations include, for example, single point energy calculation, molecular geometry optimization, and vibrational frequency analysis. The paper also describes the supporting infrastructure, such as processing software, dictionaries, validation tools and database repositories. In addition, some of the challenges and difficulties in developing common computational chemistry dictionaries are discussed. The uses of CompChem are illustrated by two practical applications. PMID:22870956

A narrative review of schemas and schema therapy outcomes in the eating disorders.

PubMed

Pugh, Matthew

2015-07-01

Whilst cognitive-behavioural therapy has demonstrated efficacy in the treatment of eating disorders, therapy outcomes and current conceptualizations still remain inadequate. In light of these shortcomings there has been growing interest in the utility of schema therapy applied to eating pathology. The present article first provides a narrative review of empirical literature exploring schemas and schema processes in eating disorders. Secondly, it critically evaluates outcome studies assessing schema therapy applied to eating disorders. Current evidence lends support to schema-focused conceptualizations of eating pathology and confirms that eating disorders are characterised by pronounced maladaptive schemas. Treatment outcomes also indicate that schema therapy, the schema-mode approach, and associated techniques are promising interventions for complex eating disorders. Implications for clinical practice and future directions for research are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

Mental Schemas Hamper Memory Storage of Goal-Irrelevant Information

PubMed Central

Sweegers, C. C. G.; Coleman, G. A.; van Poppel, E. A. M.; Cox, R.; Talamini, L. M.

2015-01-01

Mental schemas exert top-down control on information processing, for instance by facilitating the storage of schema-related information. However, given capacity-limits and competition in neural network processing, schemas may additionally exert their effects by suppressing information with low momentary relevance. In particular, when existing schemas suffice to guide goal-directed behavior, this may actually reduce encoding of the redundant sensory input, in favor of gaining efficiency in task performance. The present experiment set out to test this schema-induced shallow encoding hypothesis. Our approach involved a memory task in which faces had to be coupled to homes. For half of the faces the responses could be guided by a pre-learned schema, for the other half of the faces such a schema was not available. Memory storage was compared between schema-congruent and schema-incongruent items. To characterize putative schema effects, memory was assessed both with regard to visual details and contextual aspects of each item. The depth of encoding was also assessed through an objective neural measure: the parietal old/new ERP effect. This ERP effect, observed between 500–800 ms post-stimulus onset, is thought to reflect the extent of recollection: the retrieval of a vivid memory, including various contextual details from the learning episode. We found that schema-congruency induced substantial impairments in item memory and even larger ones in context memory. Furthermore, the parietal old/new ERP effect indicated higher recollection for the schema-incongruent than the schema-congruent memories. The combined findings indicate that, when goals can be achieved using existing schemas, this can hinder the in-depth processing of novel input, impairing the formation of perceptually detailed and contextually rich memory traces. Taking into account both current and previous findings, we suggest that schemas can both positively and negatively bias the processing of sensory input. An important determinant in this matter is likely related to momentary goals, such that mental schemas facilitate memory processing of goal-relevant input, but suppress processing of goal-irrelevant information. Highlights – Schema-congruent information suffers from shallow encoding. – Schema congruency induces poor item and context memory. – The parietal old/new effect is less pronounced for schema-congruent items. – Schemas exert different influences on memory formation depending on current goals. PMID:26635582

Generating GraphML XML Files for Graph Visualization of Architectures and Event Traces for the Monterey Phoenix Program

DTIC Science & Technology

2012-09-01

Thesis Advisor: Mikhail Auguston Second Reader: Terry Norbraten THIS PAGE INTENTIONALLY LEFT BLANK i REPORT DOCUMENTATION PAGE Form Approved...Language (GraphML). MPGrapher compiles well- formed XML files that conform to the yEd GraphML schema. These files will be opened and analyzed using...ABSTRACT UU NSN 7540-01-280-5500 Standard Form 298 (Rev. 2-89) Prescribed by ANSI Std. 239-18 ii THIS PAGE INTENTIONALLY LEFT BLANK iii Approved

The role of aggression-related early maladaptive schemas and schema modes in aggression in a prisoner sample.

PubMed

Dunne, Ashley L; Gilbert, Flora; Lee, Stuart; Daffern, Michael

2018-05-01

Contemporary social-cognitive aggression theory and extant empirical research highlights the relationship between certain Early Maladaptive Schemas (EMSs) and aggression in offenders. To date, the related construct of schema modes, which presents a comprehensive and integrated schema unit, has received scant empirical attention. Furthermore, EMSs and schema modes have yet to be examined concurrently with respect to aggressive behavior. This study examined associations between EMSs, schema modes, and aggression in an offender sample. Two hundred and eight adult male prisoners completed self-report psychological tests measuring their histories of aggression, EMSs, and schema modes. Regression analyses revealed that EMSs were significantly associated with aggression but did not account for a unique portion of variance once the effects of schema modes were taken into account. Three schema modes, Enraged Child, Impulsive Child, and Bully and Attack, significantly predicted aggression. These findings support the proposition that schema modes characterized by escalating states of anger, rage, and impulsivity characterize aggressive offenders. In this regard, we call attention to the need to include schema modes in contemporary social-cognitive aggression theories, and suggest that systematic assessment and treatment of schema modes has the potential to enhance outcomes with violent offenders. © 2018 Wiley Periodicals, Inc.

Solving Word Problems using Schemas: A Review of the Literature

PubMed Central

Powell, Sarah R.

2011-01-01

Solving word problems is a difficult task for students at-risk for or with learning disabilities (LD). One instructional approach that has emerged as a valid method for helping students at-risk for or with LD to become more proficient at word-problem solving is using schemas. A schema is a framework for solving a problem. With a schema, students are taught to recognize problems as falling within word-problem types and to apply a problem solution method that matches that problem type. This review highlights two schema approaches for 2nd- and 3rd-grade students at-risk for or with LD: schema-based instruction and schema-broadening instruction. A total of 12 schema studies were reviewed and synthesized. Both types of schema approaches enhanced the word-problem skill of students at-risk for or with LD. Based on the review, suggestions are provided for incorporating word-problem instruction using schemas. PMID:21643477

Implementing Nonlinear Feedback Controllers Using DNA Strand Displacement Reactions.

PubMed

Sawlekar, Rucha; Montefusco, Francesco; Kulkarni, Vishwesh V; Bates, Declan G

2016-07-01

We show how an important class of nonlinear feedback controllers can be designed using idealized abstract chemical reactions and implemented via DNA strand displacement (DSD) reactions. Exploiting chemical reaction networks (CRNs) as a programming language for the design of complex circuits and networks, we show how a set of unimolecular and bimolecular reactions can be used to realize input-output dynamics that produce a nonlinear quasi sliding mode (QSM) feedback controller. The kinetics of the required chemical reactions can then be implemented as enzyme-free, enthalpy/entropy driven DNA reactions using a toehold mediated strand displacement mechanism via Watson-Crick base pairing and branch migration. We demonstrate that the closed loop response of the nonlinear QSM controller outperforms a traditional linear controller by facilitating much faster tracking response dynamics without introducing overshoots in the transient response. The resulting controller is highly modular and is less affected by retroactivity effects than standard linear designs.

Rain Rate and DSD Retrievals at Kwajalein Atoll

NASA Astrophysics Data System (ADS)

Wolff, David; Marks, David; Tokay, Ali

2010-05-01

The dual-polarization weather radar on Kwajalein Atoll in the Republic of the Marshall Islands (KPOL) is one of the only full-time (24/7) operational S-band dual-polarimetric (DP) radars in the tropics. Using the DP data from KPOL, as well as data from a Joss-Waldvogel disdrometer on Kwajalein Island, algorithms for quality control, as well as calibration of reflectivity and differential reflectivity have been developed and adapted for application in a near real-time operational environment. Observations during light rain and drizzle show that KPOL measurements (since 2006) meet or exceed quality thresholds for these applications (as determined by consensus of the radar community). While the methodology for development of such applications is well documented, tuning of specific algorithms to a particular regime and observed raindrop size distributions requires a comprehensive testing and adjustment period to ensure high quality products. Upon application of these data quality techniques to the KPOL data, we have tested and compared several different rain retrieval algorithms. These include conventional Z-R, DP hybrid techniques, as well as polarimetrically-tuned Z-R described by Bringi et al. 2004. One of the major benefits of the polarimetrically tuned Z-R technique, is its ability to use the DP observations to retrieve key parameters of the drop size distribution (DSD), such as the median drop diameter, and the intercept and shape parameter of the assumed gammaDSD. We will show several such retrievals for different rain systems, as well as their distribution with height below the melting layer. From a physical validation perspective, such DSD parameter retrievals provide an important means to cross-validate microphysical parameterizations in GPM Dual-frequency Precipitation Radar (DPR) and GPM Microwave Imager (GMI) retrieval algorithms.

Illustration of microphysical processes in Amazonian deep convective clouds in the gamma phase space: introduction and potential applications

NASA Astrophysics Data System (ADS)

Cecchini, Micael A.; Machado, Luiz A. T.; Wendisch, Manfred; Costa, Anja; Krämer, Martina; Andreae, Meinrat O.; Afchine, Armin; Albrecht, Rachel I.; Artaxo, Paulo; Borrmann, Stephan; Fütterer, Daniel; Klimach, Thomas; Mahnke, Christoph; Martin, Scot T.; Minikin, Andreas; Molleker, Sergej; Pardo, Lianet H.; Pöhlker, Christopher; Pöhlker, Mira L.; Pöschl, Ulrich; Rosenfeld, Daniel; Weinzierl, Bernadett

2017-12-01

The behavior of tropical clouds remains a major open scientific question, resulting in poor representation by models. One challenge is to realistically reproduce cloud droplet size distributions (DSDs) and their evolution over time and space. Many applications, not limited to models, use the gamma function to represent DSDs. However, even though the statistical characteristics of the gamma parameters have been widely studied, there is almost no study dedicated to understanding the phase space of this function and the associated physics. This phase space can be defined by the three parameters that define the DSD intercept, shape, and curvature. Gamma phase space may provide a common framework for parameterizations and intercomparisons. Here, we introduce the phase space approach and its characteristics, focusing on warm-phase microphysical cloud properties and the transition to the mixed-phase layer. We show that trajectories in this phase space can represent DSD evolution and can be related to growth processes. Condensational and collisional growth may be interpreted as pseudo-forces that induce displacements in opposite directions within the phase space. The actually observed movements in the phase space are a result of the combination of such pseudo-forces. Additionally, aerosol effects can be evaluated given their significant impact on DSDs. The DSDs associated with liquid droplets that favor cloud glaciation can be delimited in the phase space, which can help models to adequately predict the transition to the mixed phase. We also consider possible ways to constrain the DSD in two-moment bulk microphysics schemes, in which the relative dispersion parameter of the DSD can play a significant role. Overall, the gamma phase space approach can be an invaluable tool for studying cloud microphysical evolution and can be readily applied in many scenarios that rely on gamma DSDs.

Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.

PubMed

Berglund, Agnethe; Johannsen, Trine H; Stochholm, Kirstine; Viuff, Mette H; Fedder, Jens; Main, Katharina M; Gravholt, Claus H

2016-12-01

The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis. To estimate incidence, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data from the Danish National Patient Registry, and genetic testing, if available. A total of 166 females registered as 46,XY females in the Danish Cytogenetic Central Registry were identified. A total of 124 females were classified as having 46,XY DSD, 78 with AIS and 25 with gonadal dysgenesis, whereas the remaining subjects had a variety of different diagnoses. The prevalence of 46,XY females was 6.4 per 100 000 live born females, and for AIS and gonadal dysgenesis, it was 4.1 and 1.5 per 100 000, respectively. Median age at diagnosis was 7.5 years (95% confidence interval, 4.0-13.5; range, 0-34 y) in AIS and 17.0 years (95% confidence interval, 15.5-19.0; range, 0-28 y) in gonadal dysgenesis (P = .001). Clinical presentation was dependent on cause of DSD. The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during pubertal years. The presenting phenotype is dependent on the cause of 46,XY DSD.

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

PubMed

Ittiwut, Chupong; Pratuangdejkul, Jaturong; Supornsilchai, Vichit; Muensri, Sasipa; Hiranras, Yodporn; Sahakitrungruang, Taninee; Watcharasindhu, Suttipong; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

2017-01-01

Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD. A cross-sectional study was conducted in 46, XY DSD with increased testosterone production (n=43) evaluated by a human chorionic gonadotropin (hCG) stimulation test or clinical features consistent with 5α-reductase deficiency or PAIS. PCR sequencing of the entire coding regions of the SRD5A2 and AR genes was performed. Molecular modeling analysis of the androgen receptor-ligand-binding domain (AR-LBD) of a novel mutation was constructed. Mutations were found in seven patients (16.3%): five (11.6%) and two (4.7%) patients had mutations in SRD5A2 and AR, respectively. Two novel mutations, SRD5A2 c.383A>G (p.Y128C) and AR c.2176C>T (p.R726C), were identified. Dimensional structural analysis of the novel mutated AR (p.R726C) revealed that it affected the co-activator binding [binding function-3 (BF-3)], not the testosterone binding site. Short phallus length was associated with 5α-reductase deficiency. Around 16.3% of our patients with 46, XY DSD had 5α-reductase deficiency or PAIS. Two novel mutations of SRD5A2 and AR were identified. The novel mutated AR (p.R726C) might affect the co-activator binding (BF-3), not the testosterone binding site.

Theoretical analysis of mixing in liquid clouds – Part 3: Inhomogeneous mixing

DOE PAGES

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

2016-07-28

An idealized diffusion–evaporation model of time-dependent mixing between a cloud volume and a droplet-free volume is analyzed. The initial droplet size distribution (DSD) in the cloud volume is assumed to be monodisperse. It is shown that evolution of the microphysical variables and the final equilibrium state are unambiguously determined by two non-dimensional parameters. The first one is the potential evaporation parameter R, proportional to the ratio of the saturation deficit to the liquid water content in the cloud volume, that determines whether the equilibrium state is reached at 100 % relative humidity, or is characterized by a complete evaporation ofmore » cloud droplets. The second parameter Da is the Damkölher number equal to the ratio of the characteristic mixing time to the phase relaxation time. Parameters R and Da determine the type of mixing. The results are analyzed within a wide range of values of R and Da. It is shown that there is no pure homogeneous mixing, since the first mixing stage is always inhomogeneous. The mixing type can change during the mixing process. Any mixing type leads to formation of a tail of small droplets in DSD and, therefore, to DSD broadening that depends on Da. At large Da, the final DSD dispersion can be as large as 0.2. The total duration of mixing varies from several to 100 phase relaxation time periods, depending on R and Da. The definitions of homogeneous and inhomogeneous types of mixing are reconsidered and clarified, enabling a more precise delimitation between them. The paper also compares the results obtained with those based on the classic mixing concepts.« less

Theoretical analysis of mixing in liquid clouds – Part 3: Inhomogeneous mixing

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

An idealized diffusion–evaporation model of time-dependent mixing between a cloud volume and a droplet-free volume is analyzed. The initial droplet size distribution (DSD) in the cloud volume is assumed to be monodisperse. It is shown that evolution of the microphysical variables and the final equilibrium state are unambiguously determined by two non-dimensional parameters. The first one is the potential evaporation parameter R, proportional to the ratio of the saturation deficit to the liquid water content in the cloud volume, that determines whether the equilibrium state is reached at 100 % relative humidity, or is characterized by a complete evaporation ofmore » cloud droplets. The second parameter Da is the Damkölher number equal to the ratio of the characteristic mixing time to the phase relaxation time. Parameters R and Da determine the type of mixing. The results are analyzed within a wide range of values of R and Da. It is shown that there is no pure homogeneous mixing, since the first mixing stage is always inhomogeneous. The mixing type can change during the mixing process. Any mixing type leads to formation of a tail of small droplets in DSD and, therefore, to DSD broadening that depends on Da. At large Da, the final DSD dispersion can be as large as 0.2. The total duration of mixing varies from several to 100 phase relaxation time periods, depending on R and Da. The definitions of homogeneous and inhomogeneous types of mixing are reconsidered and clarified, enabling a more precise delimitation between them. The paper also compares the results obtained with those based on the classic mixing concepts.« less

Comparison of early maladaptive schemas and parenting origins in patients with opioid abuse and non-abusers.

PubMed

Jalali, Mohammad Reza; Zargar, Mohammad; Salavati, Mojgan; Kakavand, Ali Reza

2011-01-01

The aim of this study was to examine the difference of early maladaptive schemas and parenting origins in opioid abusers and non-opioid abusers. The early maladaptive schemas and parenting origins were compared in 56 opioid abusers and 56 non-opioids abusers. Schemas were assessed by the Young Schema Questionnaire 3rd (short form); and parenting origins were assessed by the Young Parenting Inventory. Data were analyzed by multivariate analysis of variance (MANOVA). The analysis showed that the means for schemas between opioid abusers and non-opioid abusers were different. Chi square test showed that parenting origins were significantly associated with their related schemas. The early maladaptive schemas and parenting origins in opioid abusers were more than non-opioid abusers; and parenting origins were related to their Corresponding schemas.

phyloXML: XML for evolutionary biology and comparative genomics

PubMed Central

Han, Mira V; Zmasek, Christian M

2009-01-01

Background Evolutionary trees are central to a wide range of biological studies. In many of these studies, tree nodes and branches need to be associated (or annotated) with various attributes. For example, in studies concerned with organismal relationships, tree nodes are associated with taxonomic names, whereas tree branches have lengths and oftentimes support values. Gene trees used in comparative genomics or phylogenomics are usually annotated with taxonomic information, genome-related data, such as gene names and functional annotations, as well as events such as gene duplications, speciations, or exon shufflings, combined with information related to the evolutionary tree itself. The data standards currently used for evolutionary trees have limited capacities to incorporate such annotations of different data types. Results We developed a XML language, named phyloXML, for describing evolutionary trees, as well as various associated data items. PhyloXML provides elements for commonly used items, such as branch lengths, support values, taxonomic names, and gene names and identifiers. By using "property" elements, phyloXML can be adapted to novel and unforeseen use cases. We also developed various software tools for reading, writing, conversion, and visualization of phyloXML formatted data. Conclusion PhyloXML is an XML language defined by a complete schema in XSD that allows storing and exchanging the structures of evolutionary trees as well as associated data. More information about phyloXML itself, the XSD schema, as well as tools implementing and supporting phyloXML, is available at . PMID:19860910

SORTEZ: a relational translator for NCBI's ASN.1 database.

PubMed

Hart, K W; Searls, D B; Overton, G C

1994-07-01

The National Center for Biotechnology Information (NCBI) has created a database collection that includes several protein and nucleic acid sequence databases, a biosequence-specific subset of MEDLINE, as well as value-added information such as links between similar sequences. Information in the NCBI database is modeled in Abstract Syntax Notation 1 (ASN.1) an Open Systems Interconnection protocol designed for the purpose of exchanging structured data between software applications rather than as a data model for database systems. While the NCBI database is distributed with an easy-to-use information retrieval system, ENTREZ, the ASN.1 data model currently lacks an ad hoc query language for general-purpose data access. For that reason, we have developed a software package, SORTEZ, that transforms the ASN.1 database (or other databases with nested data structures) to a relational data model and subsequently to a relational database management system (Sybase) where information can be accessed through the relational query language, SQL. Because the need to transform data from one data model and schema to another arises naturally in several important contexts, including efficient execution of specific applications, access to multiple databases and adaptation to database evolution this work also serves as a practical study of the issues involved in the various stages of database transformation. We show that transformation from the ASN.1 data model to a relational data model can be largely automated, but that schema transformation and data conversion require considerable domain expertise and would greatly benefit from additional support tools.

Early maladaptive schemas in adult patients with attention deficit hyperactivity disorder.

PubMed

Philipsen, Alexandra; Lam, Alexandra P; Breit, Sigrid; Lücke, Caroline; Müller, Helge H; Matthies, Swantje

2017-06-01

The main purpose of this study was to examine whether adult patients with attention deficit hyperactivity disorder (ADHD) demonstrate sets of dysfunctional cognitive beliefs and behavioural tendencies according to Jeffrey Young's schema-focused therapy model. Sets of dysfunctional beliefs (maladaptive schemas) were assessed with the Young Schema Questionnaire (YSQ-S2) in 78 adult ADHD patients and 80 control subjects. Patients with ADHD scored significantly higher than the control group on almost all maladaptive schemas. The 'Failure', 'Defectiveness/Shame', 'Subjugation' and 'Emotional Deprivation' schemas were most pronounced in adult ADHD patients, while only 'Vulnerability to Harm or Illness' did not differ between the two groups. The schemas which were most pronounced in adult patients with ADHD correspond well with their learning histories and core symptoms. By demonstrating the existence of early maladaptive schemas in adults suffering from ADHD, this study suggests that schema theory may usefully be applied to adult ADHD therapy.

The multi-parameter remote measurement of rainfall

NASA Technical Reports Server (NTRS)

Atlas, D.; Ulbrich, C. W.; Meneghini, R.

1982-01-01

The measurement of rainfall by remote sensors is investigated. One parameter radar rainfall measurement is limited because both reflectivity and rain rate are dependent on at least two parameters of the drop size distribution (DSD), i.e., representative raindrop size and number concentration. A generalized rain parameter diagram is developed which includes a third distribution parameter, the breadth of the DSD, to better specify rain rate and all possible remote variables. Simulations show the improvement in accuracy attainable through the use of combinations of two and three remote measurables. The spectrum of remote measurables is reviewed. These include path integrated techniques of radiometry and of microwave and optical attenuation.

Development of Health-Related Quality of Life Instruments for Young Children With Disorders of Sex Development (DSD) and Their Parents.

PubMed

Alpern, Adrianne N; Gardner, Melissa; Kogan, Barry; Sandberg, David E; Quittner, Alexandra L

2017-06-01

Research in disorders of sex development (DSD) is hindered by a lack of standardized measures sensitive to the experiences of affected children and families. We developed and evaluated parent proxy (children 2-6 years) and parent self-report (children ≤6 years) health-related quality of life (HRQoL) instruments for DSD. Items were derived from focus groups and open-ended interviews. Clarity and comprehensiveness were assessed with cognitive interviews. Psychometric properties were examined in a field survey of 94 families. Measures demonstrated adequate to good psychometrics, including internal consistency, test-retest reliability, convergent validity, and ability to detect known-group differences. Parents reported greatest stress on Early Experiences , Surgery , and Future Concerns scales. These instruments identify patients' and families' needs, monitor health and quality of life status, and can evaluate clinical interventions. Findings highlight the need for improved psychosocial support during the diagnostic period, better parent-provider communication, and shared decision-making. HRQoL measures are needed for older youth. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Mobile Disdrometer Observations of Nocturnal Mesoscale Convective Systems During PECAN

NASA Astrophysics Data System (ADS)

Bodine, D. J.; Rasmussen, K. L.

2015-12-01

Understanding microphysical processes in nocturnal mesoscale convective systems (MCSs) is an important objective of the Plains Elevated Convection At Night (PECAN) experiment, which occurred from 1 June - 15 July 2015 in the central Great Plains region of the United States. Observations of MCSs were collected using a large array of mobile and fixed instrumentation, including ground-based radars, soundings, PECAN Integrated Sounding Arrays (PISAs), and aircraft. In addition to these observations, three mobile Parsivel disdrometers were deployed to obtain drop-size distribution (DSD) measurements to further explore microphysical processes in convective and stratiform regions of nocturnal MCSs. Disdrometers were deployed within close range of a multiple frequency network of mobile and fixed dual-polarization radars (5 - 30 km range), and near mobile sounding units and PISAs. Using mobile disdrometer and multiple-wavelength, dual-polarization radar data, microphysical properties of convective and stratiform regions of MCSs are investigated. The analysis will also examine coordinated Range-Height Indicator (RHI) scans over the disdrometers to elucidate vertical DSD structure. Analysis of dense observations obtained during PECAN in combination with mobile disdrometer DSD measurements contributes to a greater understanding of the structural characteristics and evolution of nocturnal MCSs.

Mature vs. Active Deep-Seated Landslides: A Comparison Through Two Case Histories in the Alps

NASA Astrophysics Data System (ADS)

Delle Piane, Luca; Perello, Paolo; Baietto, Alessandro; Giorza, Alessandra; Musso, Alessia; Gabriele, Piercarlo; Baster, Ira

2016-06-01

Two case histories are presented, concerning the still poorly known alpine deep-seated gravitational slope deformations (DSD) located nearby Lanzada (central Italian Alps), and Sarre (north-western Italian Alps). The Lanzada DSD is a constantly monitored, juvenile, and active phenomenon, partly affecting an existing hydropower plant. Its well-developed landforms allow a precise field characterization of the instability-affected area. The Sarre DSD is a mature, strongly remodeled phenomenon, where the only hazard factor is represented by secondary instability processes at the base of the slope. In this case, the remodeling imposed the adoption of complementary analytical techniques to support the field work. The two presented studies had to be adapted to external factors, namely (a) available information, (b) geological and geomorphological setting, and (c) final scope of the work. The Lanzada case essentially relied upon accurate field work; the Sarre case was mostly based on digital image and DTM processing. In both cases a sound field structural analysis formed the necessary background to understand the mechanisms leading to instability. A back-analysis of the differences between the study methods adopted in the two cases is finally presented, leading to suggestions for further investigations and design.

Caregivers of children with a disorder of sex development: associations between parenting capacities and psychological distress.

PubMed

Wolfe-Christensen, Cortney; Fedele, David A; Kirk, Katherine; Mullins, Larry L; Lakshmanan, Yegappan; Wisniewski, Amy B

2014-06-01

Caregivers of children with a disorder of sex development (DSD) are at increased risk for maladaptive parenting capacities, such as high levels of parental overprotection and perceived vulnerability of their child, in addition to parenting stress. The current study aims to examine whether there are relationships between these parenting capacities and psychological distress, including depressive and anxious symptoms. Participants included 134 caregivers of 90 children with a DSD. Caregivers completed measures of parental overprotection, perceived vulnerability, parenting stress, anxiety, and depression. Hierarchical regression analyses revealed that higher levels of parenting stress were related to more anxious and depressive symptoms in caregivers. Higher levels of perceived vulnerability were related to more anxious symptoms. Levels of parental overprotection were unrelated to anxious or depressive symptoms. There is a relationship between parenting capacities and mental health outcomes in caregivers of children with DSD, although the direction of this relationship is not clear. Given the strong relationships between parenting stress and anxious and depressive symptoms, targeting parenting stress and/or psychological distress in these caregivers could result in better functioning overall. Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Schema representation in patients with ventromedial PFC lesions.

PubMed

Ghosh, Vanessa E; Moscovitch, Morris; Melo Colella, Brenda; Gilboa, Asaf

2014-09-03

Human neuroimaging and animal studies have recently implicated the ventromedial prefrontal cortex (vmPFC) in memory schema, particularly in facilitating new encoding by existing schemas. In humans, the most conspicuous memory disorder following vmPFC damage is confabulation; strategic retrieval models suggest that aberrant schema activation or reinstatement plays a role in confabulation. This raises the possibility that beyond its role in schema-supported memory encoding, the vmPFC is also implicated in schema reinstatement itself. If that is the case, vmPFC lesions should lead to impaired schema-based operations, even on tasks that do not involve memory acquisition. To test this prediction, ten patients with vmPFC damage, four with present or prior confabulation, and a group of twelve matched healthy controls made speeded yes/no decisions as to whether words were closely related to a schema (a visit to the doctor). Ten minutes later, they repeated the task for a new schema (going to bed) with some words related to the first schema included as lures. Last, they rated the degree to which stimuli were related to the second schema. All four vmPFC patients with present or prior confabulation were impaired in rejecting lures and in classifying stimulus belongingness to the schema, even when they were not lures. Nonconfabulating patients performed comparably to healthy adults with high accuracy, comparable reaction times, and similar ratings. These results show for the first time that damage to the human vmPFC, when associated with confabulation, leads to deficient schema reinstatement, which is likely a prerequisite for schema-mediated memory integration. Copyright © 2014 the authors 0270-6474/14/3412057-14$15.00/0.

Characterizing Thematized Derivative Schema by the Underlying Emergent Structures

ERIC Educational Resources Information Center

Garcia, Mercedes; Llinares, Salvador; Sanchez-Matamoros, Gloria

2011-01-01

This paper reports on different underlying structures of the derivative schema of three undergraduate students that were considered to be at the trans level of development of the derivative schema (action-process-object-schema). The derivative schema is characterized in terms of the students' ability to explicitly transfer the relationship between…

SchemaOnRead: A Package for Schema-on-Read in R

DOE Office of Scientific and Technical Information (OSTI.GOV)

North, Michael J.

Schema-on-read is an agile approach to data storage and retrieval that defers investments in data organization until production queries need to be run by working with data directly in native form. Schema-on-read functions have been implemented in a wide range of analytical systems, most notably Hadoop. SchemaOnRead is a CRAN package that uses R’s flexible data representations to provide transparent and convenient support for the schema-on-read paradigm in R. The schema-on- read tools within the package include a single function call that recursively reads folders with text, comma separated value, raster image, R data, HDF5, NetCDF, spreadsheet, Weka, Epi Info,more » Pajek network, R network, HTML, SPSS, Systat, and Stata files. The provided tools can be used as-is or easily adapted to implement customized schema-on-read tool chains in R. This paper’s contribution is that it introduces and describes SchemaOnRead, the first R package specifically focused on providing explicit schema-on-read support in R.« less

Liberal Entity Extraction: Rapid Construction of Fine-Grained Entity Typing Systems.

PubMed

Huang, Lifu; May, Jonathan; Pan, Xiaoman; Ji, Heng; Ren, Xiang; Han, Jiawei; Zhao, Lin; Hendler, James A

2017-03-01

The ability of automatically recognizing and typing entities in natural language without prior knowledge (e.g., predefined entity types) is a major challenge in processing such data. Most existing entity typing systems are limited to certain domains, genres, and languages. In this article, we propose a novel unsupervised entity-typing framework by combining symbolic and distributional semantics. We start from learning three types of representations for each entity mention: general semantic representation, specific context representation, and knowledge representation based on knowledge bases. Then we develop a novel joint hierarchical clustering and linking algorithm to type all mentions using these representations. This framework does not rely on any annotated data, predefined typing schema, or handcrafted features; therefore, it can be quickly adapted to a new domain, genre, and/or language. Experiments on genres (news and discussion forum) show comparable performance with state-of-the-art supervised typing systems trained from a large amount of labeled data. Results on various languages (English, Chinese, Japanese, Hausa, and Yoruba) and domains (general and biomedical) demonstrate the portability of our framework.

Liberal Entity Extraction: Rapid Construction of Fine-Grained Entity Typing Systems

PubMed Central

Huang, Lifu; May, Jonathan; Pan, Xiaoman; Ji, Heng; Ren, Xiang; Han, Jiawei; Zhao, Lin; Hendler, James A.

2017-01-01

Abstract The ability of automatically recognizing and typing entities in natural language without prior knowledge (e.g., predefined entity types) is a major challenge in processing such data. Most existing entity typing systems are limited to certain domains, genres, and languages. In this article, we propose a novel unsupervised entity-typing framework by combining symbolic and distributional semantics. We start from learning three types of representations for each entity mention: general semantic representation, specific context representation, and knowledge representation based on knowledge bases. Then we develop a novel joint hierarchical clustering and linking algorithm to type all mentions using these representations. This framework does not rely on any annotated data, predefined typing schema, or handcrafted features; therefore, it can be quickly adapted to a new domain, genre, and/or language. Experiments on genres (news and discussion forum) show comparable performance with state-of-the-art supervised typing systems trained from a large amount of labeled data. Results on various languages (English, Chinese, Japanese, Hausa, and Yoruba) and domains (general and biomedical) demonstrate the portability of our framework. PMID:28328252

An introduction to the Semantic Web for health sciences librarians.

PubMed

Robu, Ioana; Robu, Valentin; Thirion, Benoit

2006-04-01

The paper (1) introduces health sciences librarians to the main concepts and principles of the Semantic Web (SW) and (2) briefly reviews a number of projects on the handling of biomedical information that uses SW technology. The paper is structured into two main parts. "Semantic Web Technology" provides a high-level description, with examples, of the main standards and concepts: extensible markup language (XML), Resource Description Framework (RDF), RDF Schema (RDFS), ontologies, and their utility in information retrieval, concluding with mention of more advanced SW languages and their characteristics. "Semantic Web Applications and Research Projects in the Biomedical Field" is a brief review of the Unified Medical Language System (UMLS), Generalised Architecture for Languages, Encyclopedias and Nomenclatures in Medicine (GALEN), HealthCyberMap, LinkBase, and the thesaurus of the National Cancer Institute (NCI). The paper also mentions other benefits and by-products of the SW, citing projects related to them. Some of the problems facing the SW vision are presented, especially the ways in which the librarians' expertise in organizing knowledge and in structuring information may contribute to SW projects.

The CMS DBS query language

NASA Astrophysics Data System (ADS)

Kuznetsov, Valentin; Riley, Daniel; Afaq, Anzar; Sekhri, Vijay; Guo, Yuyi; Lueking, Lee

2010-04-01

The CMS experiment has implemented a flexible and powerful system enabling users to find data within the CMS physics data catalog. The Dataset Bookkeeping Service (DBS) comprises a database and the services used to store and access metadata related to CMS physics data. To this, we have added a generalized query system in addition to the existing web and programmatic interfaces to the DBS. This query system is based on a query language that hides the complexity of the underlying database structure by discovering the join conditions between database tables. This provides a way of querying the system that is simple and straightforward for CMS data managers and physicists to use without requiring knowledge of the database tables or keys. The DBS Query Language uses the ANTLR tool to build the input query parser and tokenizer, followed by a query builder that uses a graph representation of the DBS schema to construct the SQL query sent to underlying database. We will describe the design of the query system, provide details of the language components and overview of how this component fits into the overall data discovery system architecture.

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

PubMed

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

2002-01-01

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

A Semantic Analysis of XML Schema Matching for B2B Systems Integration

ERIC Educational Resources Information Center

Kim, Jaewook

2011-01-01

One of the most critical steps to integrating heterogeneous e-Business applications using different XML schemas is schema matching, which is known to be costly and error-prone. Many automatic schema matching approaches have been proposed, but the challenge is still daunting because of the complexity of schemas and immaturity of technologies in…

Stress affects the neural ensemble for integrating new information and prior knowledge.

PubMed

Vogel, Susanne; Kluen, Lisa Marieke; Fernández, Guillén; Schwabe, Lars

2018-06-01

Prior knowledge, represented as a schema, facilitates memory encoding. This schema-related learning is assumed to rely on the medial prefrontal cortex (mPFC) that rapidly integrates new information into the schema, whereas schema-incongruent or novel information is encoded by the hippocampus. Stress is a powerful modulator of prefrontal and hippocampal functioning and first studies suggest a stress-induced deficit of schema-related learning. However, the underlying neural mechanism is currently unknown. To investigate the neural basis of a stress-induced schema-related learning impairment, participants first acquired a schema. One day later, they underwent a stress induction or a control procedure before learning schema-related and novel information in the MRI scanner. In line with previous studies, learning schema-related compared to novel information activated the mPFC, angular gyrus, and precuneus. Stress, however, affected the neural ensemble activated during learning. Whereas the control group distinguished between sets of brain regions for related and novel information, stressed individuals engaged the hippocampus even when a relevant schema was present. Additionally, stressed participants displayed aberrant functional connectivity between brain regions involved in schema processing when encoding novel information. The failure to segregate functional connectivity patterns depending on the presence of prior knowledge was linked to impaired performance after stress. Our results show that stress affects the neural ensemble underlying the efficient use of schemas during learning. These findings may have relevant implications for clinical and educational settings. Copyright © 2018 Elsevier Inc. All rights reserved.

From grasp to language: embodied concepts and the challenge of abstraction.

PubMed

Arbib, Michael A

2008-01-01

The discovery of mirror neurons in the macaque monkey and the discovery of a homologous "mirror system for grasping" in Broca's area in the human brain has revived the gestural origins theory of the evolution of the human capability for language, enriching it with the suggestion that mirror neurons provide the neurological core for this evolution. However, this notion of "mirror neuron support for the transition from grasp to language" has been worked out in very different ways in the Mirror System Hypothesis model [Arbib, M.A., 2005a. From monkey-like action recognition to human language: an evolutionary framework for neurolinguistics (with commentaries and author's response). Behavioral and Brain Sciences 28, 105-167; Rizzolatti, G., Arbib, M.A., 1998. Language within our grasp. Trends in Neuroscience 21(5), 188-194] and the Embodied Concept model [Gallese, V., Lakoff, G., 2005. The brain's concepts: the role of the sensory-motor system in reason and language. Cognitive Neuropsychology 22, 455-479]. The present paper provides a critique of the latter to enrich analysis of the former, developing the role of schema theory [Arbib, M.A., 1981. Perceptual structures and distributed motor control. In: Brooks, V.B. (Ed.), Handbook of Physiology--The Nervous System II. Motor Control. American Physiological Society, pp. 1449-1480].

Model-Driven Engineering of Machine Executable Code

NASA Astrophysics Data System (ADS)

Eichberg, Michael; Monperrus, Martin; Kloppenburg, Sven; Mezini, Mira

Implementing static analyses of machine-level executable code is labor intensive and complex. We show how to leverage model-driven engineering to facilitate the design and implementation of programs doing static analyses. Further, we report on important lessons learned on the benefits and drawbacks while using the following technologies: using the Scala programming language as target of code generation, using XML-Schema to express a metamodel, and using XSLT to implement (a) transformations and (b) a lint like tool. Finally, we report on the use of Prolog for writing model transformations.

Ologs: a categorical framework for knowledge representation.

PubMed

Spivak, David I; Kent, Robert E

2012-01-01

In this paper we introduce the olog, or ontology log, a category-theoretic model for knowledge representation (KR). Grounded in formal mathematics, ologs can be rigorously formulated and cross-compared in ways that other KR models (such as semantic networks) cannot. An olog is similar to a relational database schema; in fact an olog can serve as a data repository if desired. Unlike database schemas, which are generally difficult to create or modify, ologs are designed to be user-friendly enough that authoring or reconfiguring an olog is a matter of course rather than a difficult chore. It is hoped that learning to author ologs is much simpler than learning a database definition language, despite their similarity. We describe ologs carefully and illustrate with many examples. As an application we show that any primitive recursive function can be described by an olog. We also show that ologs can be aligned or connected together into a larger network using functors. The various methods of information flow and institutions can then be used to integrate local and global world-views. We finish by providing several different avenues for future research.

Ologs: A Categorical Framework for Knowledge Representation

PubMed Central

Spivak, David I.; Kent, Robert E.

2012-01-01

In this paper we introduce the olog, or ontology log, a category-theoretic model for knowledge representation (KR). Grounded in formal mathematics, ologs can be rigorously formulated and cross-compared in ways that other KR models (such as semantic networks) cannot. An olog is similar to a relational database schema; in fact an olog can serve as a data repository if desired. Unlike database schemas, which are generally difficult to create or modify, ologs are designed to be user-friendly enough that authoring or reconfiguring an olog is a matter of course rather than a difficult chore. It is hoped that learning to author ologs is much simpler than learning a database definition language, despite their similarity. We describe ologs carefully and illustrate with many examples. As an application we show that any primitive recursive function can be described by an olog. We also show that ologs can be aligned or connected together into a larger network using functors. The various methods of information flow and institutions can then be used to integrate local and global world-views. We finish by providing several different avenues for future research. PMID:22303434

Marketing responsible drinking behavior: comparing the effectiveness of responsible drinking messages tailored to three possible "personality" conceptualizations.

PubMed

York, Valerie K; Brannon, Laura A; Miller, Megan M

2012-01-01

We investigated whether a thoroughly personalized message (tailored to a person's "Big Five" personality traits) or a message matched to an alternate form of self-schema (ideal self-schema) would be more influential than a self-schema matched message (that has been found to be effective) at marketing responsible drinking. We expected the more thoroughly personalized Big Five matched message to be more effective than the self-schema matched message. However, neither the Big Five message nor the ideal self-schema message was more effective than the actual self-schema message. Therefore, research examining self-schema matching should be pursued rather than more complex Big Five matching.

How the Media Effects Schema and the Persuasion Ethics Schema Affect Audience Responses to Antismoking Campaign Messages.

PubMed

Paek, Hye-Jin; Hove, Thomas

2018-05-01

This study examines the roles that the media effects and persuasion ethics schemas play in people's responses to an antismoking ad in South Korea. An online experiment was conducted with 347 adults. The media effects schema was manipulated with news stories on an antismoking campaign's effectiveness, while the persuasion ethics schema was measured and median-split. Analysis of Variance (ANOVA) tests were performed for issue attitudes (Iatt), attitude toward the ad (Aad), and behavioral intention (BI). Results show significant main effects of the media effects schema on the three dependent variables. People in the weak media effects condition had significantly lower Iatt, Aad, and BI than those in either the strong media effects condition or the control condition. This pattern was more pronounced among smokers. While there was no significant main effect of the persuasion ethics schema on any of the dependent variables, a significant interaction effect for persuasion ethics schema and smoking status was found on behavioral intention (BI). Nonsmokers' BI was significantly higher than smokers' in the low-persuasion ethics schema condition, but it was not significant in the high-persuasion ethics schema condition.

[Research on tumor information grid framework].

PubMed

Zhang, Haowei; Qin, Zhu; Liu, Ying; Tan, Jianghao; Cao, Haitao; Chen, Youping; Zhang, Ke; Ding, Yuqing

2013-10-01

In order to realize tumor disease information sharing and unified management, we utilized grid technology to make the data and software resources which distributed in various medical institutions for effective integration so that we could make the heterogeneous resources consistent and interoperable in both semantics and syntax aspects. This article describes the tumor grid framework, the type of the service being packaged in Web Service Description Language (WSDL) and extensible markup language schemas definition (XSD), the client use the serialized document to operate the distributed resources. The service objects could be built by Unified Modeling Language (UML) as middle ware to create application programming interface. All of the grid resources are registered in the index and released in the form of Web Services based on Web Services Resource Framework (WSRF). Using the system we can build a multi-center, large sample and networking tumor disease resource sharing framework to improve the level of development in medical scientific research institutions and the patient's quality of life.

An approach for management of geometry data

NASA Technical Reports Server (NTRS)

Dube, R. P.; Herron, G. J.; Schweitzer, J. E.; Warkentine, E. R.

1980-01-01

The strategies for managing Integrated Programs for Aerospace Design (IPAD) computer-based geometry are described. The computer model of geometry is the basis for communication, manipulation, and analysis of shape information. IPAD's data base system makes this information available to all authorized departments in a company. A discussion of the data structures and algorithms required to support geometry in IPIP (IPAD's data base management system) is presented. Through the use of IPIP's data definition language, the structure of the geometry components is defined. The data manipulation language is the vehicle by which a user defines an instance of the geometry. The manipulation language also allows a user to edit, query, and manage the geometry. The selection of canonical forms is a very important part of the IPAD geometry. IPAD has a canonical form for each entity and provides transformations to alternate forms; in particular, IPAD will provide a transformation to the ANSI standard. The DBMS schemas required to support IPAD geometry are explained.

Magical thinking in narratives of adolescent cutters.

PubMed

Gregory, Robert J; Mustata, Georgian T

2012-08-01

Adolescents sometimes cut themselves to relieve distress; however, the mechanism is unknown. Previous studies have linked self-injury to deficits in processing emotions symbolically through language. To investigate expressive language of adolescent cutters, the authors analyzed 100 narratives posted on the Internet. Most narratives (n = 66) displayed idiosyncratic use of language indicating poor differentiation between the real and the symbolic, such as blood substituting for negative emotions, which can then be released from the self; or emotional pain magically transforming into physical pain, which can then be managed. This kind of magical thinking correlated with cutting to relieve distress, to see blood, and to feel pain, but negatively correlated with complex representation of people, understanding social causality, and self-esteem. The results suggest that magical thinking represents a pre-symbolic mental state that processes and organizes distressing emotions through body schema. Magical thinking thus provides a plausible mechanism for why cutting works. Copyright © 2012 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.

Schema building profiles among elementary school students in solving problems related to operations of addition to fractions on the basis of mathematic abilities

NASA Astrophysics Data System (ADS)

Gembong, S.; Suwarsono, S. T.; Prabowo

2018-03-01

Schema in the current study refers to a set of action, process, object and other schemas already possessed to build an individual’s ways of thinking to solve a given problem. The current study aims to investigate the schemas built among elementary school students in solving problems related to operations of addition to fractions. The analyses of the schema building were done qualitatively on the basis of the analytical framework of the APOS theory (Action, Process, Object, and Schema). Findings show that the schemas built on students of high and middle ability indicate the following. In the action stage, students were able to add two fractions by way of drawing a picture or procedural way. In the Stage of process, they could add two and three fractions. In the stage of object, they could explain the steps of adding two fractions and change a fraction into addition of fractions. In the last stage, schema, they could add fractions by relating them to another schema they have possessed i.e. the least common multiple. Those of high and middle mathematic abilities showed that their schema building in solving problems related to operations odd addition to fractions worked in line with the framework of the APOS theory. Those of low mathematic ability, however, showed that their schema on each stage did not work properly.

The role of childhood trauma, early maladaptive schemas, emotional schemas and experimental avoidance on depression: A structural equation modeling.

PubMed

Rezaei, Mehdi; Ghazanfari, Firoozeh; Rezaee, Fatemeh

2016-12-30

The present investigation was designed to examine disconnection and rejection (DR) schemas, negative emotional schemas (NESs) and experimental avoidance (EA) as mediating variables of the relationship between the childhood trauma (CT) and depression. Specifically we examined the mediating role of NESs and EA between DR schemas and depression. The study sample consist of 439 female college students (M age =22.47; SD=6.0), of whom 88 met the criteria for current major depressive disorder (MDD) and 351 who had history of MDD in the last 12 months. Subjects were assessed by Structured Clinical Interview for DSM-IV (SCID) and completed the Childhood Trauma Questionnaire (CTQ), the Early Maladaptive Schemas Questionnaire (SQ-SF), the Leahy Emotional Schemas Scale (LESS), the Acceptance and Action Questionnaire (AAQ-II), and the Beck Depression Inventory-II (BDI-II). The findings showed that DR schemas were mediator of the relationship CT and depression but CT through the NESs and EA did not predict depression. NESs were mediator of the relationship between DR schemas and depression and EA was mediator of the relationship between DR schemas and depression. In general, results suggest that intervention of depressed women may need to target the changing of DR schemas, NESs and reduction of EA. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

A schema theory analysis of students' think aloud protocols in an STS biology context

NASA Astrophysics Data System (ADS)

Quinlan, Catherine Louise

This dissertation study is a conglomerate of the fields of Science Education and Applied Cognitive Psychology. The goal of this study is to determine what organizational features and knowledge representation patterns high school students exhibit over time for issues pertinent to science and society. Participants are thirteen tenth grade students in a diverse suburban-urban classroom in a northeastern state. Students' think alouds are recorded, pre-, post-, and late-post treatment. Treatment consists of instruction in three Science, Technology, and Society (STS) biology issues, namely the human genome project, nutrition and health, and stem cell research. Coding and analyses are performed using Marshall's knowledge representations---identification knowledge, elaboration knowledge, planning knowledge, and execution knowledge, as well as qualitative research analysis methods. Schema theory, information processing theory, and other applied cognitive theory provide a framework in which to understand and explain students' schema descriptions and progressions over time. The results show that students display five organizational features in their identification and elaboration knowledge. Students also fall into one of four categories according to if they display prior schema or no prior schema, and their orientation "for" or "against," some of the issues. Students with prior schema and orientation "against" display the most robust schema descriptions and schema progressions. Those with no prior schemas and orientation "against" show very modest schema progressions best characterized by their keyword searches. This study shows the importance in considering not only students' integrated schemas but also their individual schemes. A role for the use of a more schema-based instruction that scaffolds student learning is implicated.

Positive clinical psychology and Schema Therapy (ST): The development of the Young Positive Schema Questionnaire (YPSQ) to complement the Young Schema Questionnaire 3 Short Form (YSQ-S3).

PubMed

Louis, John P; Wood, Alex M; Lockwood, George; Ho, Moon-Ho Ringo; Ferguson, Eamonn

2018-04-19

Negative schemas have been widely recognized as being linked to psychopathology and mental health, and they are central to the Schema Therapy (ST) model. This study is the first to report on the psychometric properties of the Young Positive Schema Questionnaire (YPSQ). In a combined community sample (Manila, Philippines, n = 559; Bangalore, India, n = 350; Singapore, n = 628), we identified a 56-item, 14-factor solution for the YPSQ. Multigroup confirmatory factor analysis supported the 14-factor model using data from two other independent samples: an Eastern sample from Kuala Lumpur, Malaysia (n = 229) and a Western sample from the United States (n = 214). Construct validity was demonstrated with the Young Schema Questionnaire 3 Short Form (YSQ-S3) that measures negative schemas, and divergent validity was demonstrated for 11 of the YPSQ subscales with their respective negative schema counterparts. Convergent validity of the 14 subscales of YPSQ was demonstrated with measures of personality dispositions, emotional distress, well-being, trait gratitude, and humor styles. Positive schemas also showed incremental validity over and above negative schemas for these same measures, thus demonstrating that both positive and negative schemas are separate constructs that relate in unique ways to mental health. Implications for using both the YPSQ and the YSQ-S3 scales in tandem in ST as well as cultural nuances from the use of Asian samples were discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

A general approach to double-moment normalization of drop size distributions

NASA Astrophysics Data System (ADS)

Lee, G. W.; Sempere-Torres, D.; Uijlenhoet, R.; Zawadzki, I.

2003-04-01

Normalization of drop size distributions (DSDs) is re-examined here. First, we present an extension of scaling normalization using one moment of the DSD as a parameter (as introduced by Sempere-Torres et al, 1994) to a scaling normalization using two moments as parameters of the normalization. It is shown that the normalization of Testud et al. (2001) is a particular case of the two-moment scaling normalization. Thus, a unified vision of the question of DSDs normalization and a good model representation of DSDs is given. Data analysis shows that from the point of view of moment estimation least square regression is slightly more effective than moment estimation from the normalized average DSD.

Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

PubMed Central

Sandberg, David E.; Gardner, Melissa; Cohen-Kettenis, Peggy T.

2013-01-01

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. PMID:23044882

Toward a view-oriented approach for aligning RDF-based biomedical repositories.

PubMed

Anguita, A; García-Remesal, M; de la Iglesia, D; Graf, N; Maojo, V

2015-01-01

This article is part of the Focus Theme of METHODS of Information in Medicine on "Managing Interoperability and Complexity in Health Systems". The need for complementary access to multiple RDF databases has fostered new lines of research, but also entailed new challenges due to data representation disparities. While several approaches for RDF-based database integration have been proposed, those focused on schema alignment have become the most widely adopted. All state-of-the-art solutions for aligning RDF-based sources resort to a simple technique inherited from legacy relational database integration methods. This technique - known as element-to-element (e2e) mappings - is based on establishing 1:1 mappings between single primitive elements - e.g. concepts, attributes, relationships, etc. - belonging to the source and target schemas. However, due to the intrinsic nature of RDF - a representation language based on defining tuples < subject, predicate, object > -, one may find RDF elements whose semantics vary dramatically when combined into a view involving other RDF elements - i.e. they depend on their context. The latter cannot be adequately represented in the target schema by resorting to the traditional e2e approach. These approaches fail to properly address this issue without explicitly modifying the target ontology, thus lacking the required expressiveness for properly reflecting the intended semantics in the alignment information. To enhance existing RDF schema alignment techniques by providing a mechanism to properly represent elements with context-dependent semantics, thus enabling users to perform more expressive alignments, including scenarios that cannot be adequately addressed by the existing approaches. Instead of establishing 1:1 correspondences between single primitive elements of the schemas, we propose adopting a view-based approach. The latter is targeted at establishing mapping relationships between RDF subgraphs - that can be regarded as the equivalent of views in traditional databases -, rather than between single schema elements. This approach enables users to represent scenarios defined by context-dependent RDF elements that cannot be properly represented when adopting the currently existing approaches. We developed a software tool implementing our view-based strategy. Our tool is currently being used in the context of the European Commission funded p-medicine project, targeted at creating a technological framework to integrate clinical and genomic data to facilitate the development of personalized drugs and therapies for cancer, based on the genetic profile of the patient. We used our tool to integrate different RDF-based databases - including different repositories of clinical trials and DICOM images - using the Health Data Ontology Trunk (HDOT) ontology as the target schema. The importance of database integration methods and tools in the context of biomedical research has been widely recognized. Modern research in this area - e.g. identification of disease biomarkers, or design of personalized therapies - heavily relies on the availability of a technical framework to enable researchers to uniformly access disparate repositories. We present a method and a tool that implement a novel alignment method specifically designed to support and enhance the integration of RDF-based data sources at schema (metadata) level. This approach provides an increased level of expressiveness compared to other existing solutions, and allows solving heterogeneity scenarios that cannot be properly represented using other state-of-the-art techniques.

Stress leads to aberrant hippocampal involvement when processing schema-related information.

PubMed

Vogel, Susanne; Kluen, Lisa Marieke; Fernández, Guillén; Schwabe, Lars

2018-01-01

Prior knowledge, represented as a mental schema, has critical impact on how we organize, interpret, and process incoming information. Recent findings indicate that the use of an existing schema is coordinated by the medial prefrontal cortex (mPFC), communicating with parietal areas. The hippocampus, however, is crucial for encoding schema-unrelated information but not for schema-related information. A recent study indicated that stress mediators may affect schema-related memory, but the underlying neural mechanisms are currently unknown. Here, we thus tested the impact of acute stress on neural processing of schema-related information. We exposed healthy participants to a stress or control manipulation before they processed, in the MRI scanner, words related or unrelated to a preexisting schema activated by a specific cue. Participants' memory for the presented material was tested 3-5 d after encoding. Overall, the processing of schema-related information activated the mPFC, the precuneus, and the angular gyrus. Stress resulted in aberrant hippocampal activity and connectivity while participants processed schema-related information. This aberrant engagement of the hippocampus was linked to altered subsequent memory. These findings suggest that stress may interfere with the efficient use of prior knowledge during encoding and may have important practical implications, in particular for educational settings. © 2018 Vogel et al.; Published by Cold Spring Harbor Laboratory Press.

Relationships between Childhood Traumatic Experiences, Early Maladaptive Schemas and Interpersonal Styles

PubMed Central

KAYA TEZEL, Fulya; TUTAREL KIŞLAK, Şennur; BOYSAN, Murat

2015-01-01

Introduction Cognitive theories of psychopathology have generally proposed that early experiences of childhood abuse and neglect may result in the development of early maladaptive self-schemas. Maladaptive core schemas are central in the development and maintenance of psychological symptoms in a schema-focused approach. Psychosocial dysfunction in individuals with psychological problems has been consistently found to be associated with symptom severity. However, till date, linkages between psychosocial functioning, early traumatic experiences and core schemas have received little attention. The aim of the present study was to explore the relations among maladaptive interpersonal styles, negative experiences in childhood and core self-schemas in non-clinical adults. Methods A total of 300 adults (58% women) participated in the study. The participants completed a socio-demographic questionnaire, Young Schema Questionnaire, Childhood Trauma Questionnaire and Interpersonal Style Scale. Results Hierarchical regression analyses revealed that the Disconnection and Rejection and Impaired Limits schema domains were significant antecedents of maladaptive interpersonal styles after controlling for demographic characteristics and childhood abuse and neglect. Associations of child sexual abuse with Emotionally Avoidant, Manipulative and Abusive interpersonal styles were mediated by early maladaptive schemas. Early maladaptive schemas mediated the relations of emotional abuse with Emotionally Avoidant and Avoidant interpersonal styles as well as the relations of physical abuse with Avoidant and Abusive interpersonal styles. Conclusion Interpersonal styles in adulthood are significantly associated with childhood traumatic experiences. Significant relations between early traumatic experiences and maladaptive interpersonal styles are mediated by early maladaptive schemas. PMID:28360715

Relationships between Childhood Traumatic Experiences, Early Maladaptive Schemas and Interpersonal Styles.

PubMed

Kaya Tezel, Fulya; Tutarel Kişlak, Şennur; Boysan, Murat

2015-09-01

Cognitive theories of psychopathology have generally proposed that early experiences of childhood abuse and neglect may result in the development of early maladaptive self-schemas. Maladaptive core schemas are central in the development and maintenance of psychological symptoms in a schema-focused approach. Psychosocial dysfunction in individuals with psychological problems has been consistently found to be associated with symptom severity. However, till date, linkages between psychosocial functioning, early traumatic experiences and core schemas have received little attention. The aim of the present study was to explore the relations among maladaptive interpersonal styles, negative experiences in childhood and core self-schemas in non-clinical adults. A total of 300 adults (58% women) participated in the study. The participants completed a socio-demographic questionnaire, Young Schema Questionnaire, Childhood Trauma Questionnaire and Interpersonal Style Scale. Hierarchical regression analyses revealed that the Disconnection and Rejection and Impaired Limits schema domains were significant antecedents of maladaptive interpersonal styles after controlling for demographic characteristics and childhood abuse and neglect. Associations of child sexual abuse with Emotionally Avoidant, Manipulative and Abusive interpersonal styles were mediated by early maladaptive schemas. Early maladaptive schemas mediated the relations of emotional abuse with Emotionally Avoidant and Avoidant interpersonal styles as well as the relations of physical abuse with Avoidant and Abusive interpersonal styles. Interpersonal styles in adulthood are significantly associated with childhood traumatic experiences. Significant relations between early traumatic experiences and maladaptive interpersonal styles are mediated by early maladaptive schemas.

Malassezia globosa and restricta: breakthrough understanding of the etiology and treatment of dandruff and seborrheic dermatitis through whole-genome analysis.

PubMed

Dawson, Thomas L

2007-12-01

Dandruff and seborrheic dermatitis (D/SD) share an etiology dependent upon three factors: sebum, microbial metabolism (specifically, Malassezia yeasts), and individual susceptibility. Advances in microbiological and analytical techniques permit a more detailed understanding of these etiologic factors, especially the role of Malassezia. Malassezia are lipid-dependent and demonstrate adaptation allowing them to exploit a narrow niche on sebum-rich skin. Work in our and our collaborators' laboratories has focused on understanding these adaptations by detailed analysis of biochemistry and gene expression. We have shown that Malassezia globosa and M. restricta predominate on dandruff scalp, that oleic acid alone can initiate dandruff-like desquamation, that M. globosa is the most likely initiating organism by virtue of its high lipase activity, and that an M. globosa lipase is expressed on human scalp. Considering the importance of M. globosa in D/SD (and the overall importance of commensal fungi), we have sequenced the M. globosa and M. restricta genomes. Genomic analysis indicates key adaptations to the skin environment, several of which yield important clues to the role Malassezia play in human disease. This work offers the promise of defining new treatments to D/SD that are targeted at changing the level or activities of Malassezia genes.

Gender identity and gender of rearing in 46 XY disorders of sexual development

PubMed Central

Gangaher, Arushi; Chauhan, Vasundhera; Jyotsna, Viveka P.; Mehta, Manju

2016-01-01

Background: Disorders of sexual development (DSD) may pose a challenge to live as a fully-functioning male or female. In this study, we prospectively assessed eleven 46 XY DSD patients who were being treated at our center over the last 8 months for gender dysphoria. Materials and Methods: To determine gender dysphoria, age-appropriate gender identity (GI) questionnaires were used. For patients, 12 years and below, parent report GI questionnaire for children was used and for those above 12 years of age, GI/gender dysphoria questionnaire for adolescents and adults was administered. Results: Of 11 patients with 46 XY DSD, three were diagnosed with 5 alpha reductase deficiency (5aRD), two with partial gonadal dysgenesis, three with partial androgen insensitivity syndrome, one each with ovotesticular, complete gonadal dysgenesis, and complete androgen insensitivity. Gender assigned at birth was female in eight and male in three patients. Among the eight reared as female, gender had been reassigned as male in three patients well before the present study was conducted. None of the eleven patients had gender dysphoria at the time of this study. Conclusion: Early gender of rearing was seen to be a critical indicator of present GI in our patients except in cases of 5aRD. PMID:27366722

Report on Microgravity Experiments of Dynamic Surface Deformation Effects on Marangoni Instability in High-Prandtl-Number Liquid Bridges

NASA Astrophysics Data System (ADS)

Yano, Taishi; Nishino, Koichi; Matsumoto, Satoshi; Ueno, Ichiro; Komiya, Atsuki; Kamotani, Yasuhiro; Imaishi, Nobuyuki

2018-04-01

This paper reports an overview and some important results of microgravity experiments called Dynamic Surf, which have been conducted on board the International Space Station from 2013 to 2016. The present project mainly focuses on the relations between the Marangoni instability in a high-Prandtl-number (Pr= 67 and 112) liquid bridge and the dynamic free surface deformation (DSD) as well as the interfacial heat transfer. The dynamic free surface deformations of large-scale liquid bridges (say, for diameters greater than 10 mm) are measured with good accuracy by an optical imaging technique. It is found that there are two causes of the dynamic free surface deformation in the present study: the first is the time-dependent flow behavior inside the liquid bridge due to the Marangoni instability, and the second is the external disturbance due to the residual acceleration of gravity, i.e., g-jitter. The axial distributions of DSD along the free surface are measured for several conditions. The critical parameters for the onset of oscillatory Marangoni convection are also measured for various aspect ratios (i.e., relative height to the diameter) of the liquid bridge and various thermal boundary conditions. The characteristics of DSD and the onset conditions of instability are discussed in this paper.

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.

PubMed

Croft, Brittany; Ayers, Katie; Sinclair, Andrew; Ohnesorg, Thomas

2016-12-01

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337-350, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Occurrence of virulence-associated genes among Staphylococcus saprophyticus isolated from different sources.

PubMed

de Paiva-Santos, Weslley; de Sousa, Viviane Santos; Giambiagi-deMarval, Marcia

2018-03-28

Staphylococcus saprophyticus is an important pathogen responsible for community urinary tract infections (UTI). Besides composing the human microbiota, this species is widely distributed in the environment and the origins of this organism for human infection is not fully characterized. Although some virulence determinants are known, such as d-serine deaminase (DsdA), urease and cell-wall associated proteins, few studies investigated the distribution of virulence-associated genes and analyzed the pathogenic potential of S. saprophyticus strains from different sources. The aim of the present study was to detect the presence of S. saprophyticus genes encoding surface proteins UafA, Aas, Ssp, SdrI, SssF as well as the DsdA and urease enzymes. A total of 142 S. saprophyticus strains were obtained from four sources: UTI, colonization, water and food. It was found, in every tested strain, the presence of genes encoding the surface proteins UafA, Aas, Ssp and SssF and the DsdA and urease enzymes. In contrast, the gene encoding SdrI surface protein was not detected in any of the strains of S. saprophyticus. These results provide a better understanding of the characteristics of S. saprophyticus strains and suggest that isolates from non-human sources have a potential to colonize the urinary tract. Copyright © 2018 Elsevier Ltd. All rights reserved.

[Understanding questions: a specific difficulty in children with pragmatic communication and language disorders].

PubMed

Monfort, I; Monfort, M

2010-03-03

The question-answer schema is the basis for communicative interaction and is therefore a fundamental aim of the work carried out with children with severe communication and language impairment. Answering questions requires basic skills that enable the listener to identify intonation and facial expression, as well as skills in interpreting intentions and in understanding linguistic content. Some questions can rest on contextual-social keys and others may be based on lexical or structural keys. Some questions, however, call for a more complex understanding, such as 'what' and 'who' questions. Here, we propose an analysis of the skills involved in understanding questions and the consequences on intervention strategies. Intervention in understanding questions should combine different approaches (cognitive, social, linguistic) depending on the type of question, the specific difficulties the child has and the context.

Semantic Expression and Execution of B2B Contracts on Multimedia Content

NASA Astrophysics Data System (ADS)

Rodríguez-Doncel, Víctor; Delgado, Jaime

Business to business commerce of audiovisual material can be governed by electronic contracts, in the same way as digital licenses govern business to consumer transactions. The digital licenses for end users have been expressed either in proprietary formats or in standard Rights Expression Languages and they can be seen as the electronic replacement of distribution contracts and end user licenses. However, these languages fail to replace the rest of the contracts agreed along the complete Intellectual Property value chain. To represent their corresponding electronic counterpart licenses, a schema based on the standard eContracts and the Media Value Chain Ontology is presented here. It has been conceived to deal with a broader set of parties, to handle typical clauses found in the audiovisual market contracts, and to govern every transaction performed on IP objects.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chao, Tian-Jy; Kim, Younghun

An end-to-end interoperability and workflows from building architecture design to one or more simulations, in one aspect, may comprise establishing a BIM enablement platform architecture. A data model defines data entities and entity relationships for enabling the interoperability and workflows. A data definition language may be implemented that defines and creates a table schema of a database associated with the data model. Data management services and/or application programming interfaces may be implemented for interacting with the data model. Web services may also be provided for interacting with the data model via the Web. A user interface may be implemented thatmore » communicates with users and uses the BIM enablement platform architecture, the data model, the data definition language, data management services and application programming interfaces to provide functions to the users to perform work related to building information management.« less

How to achieve synergy between medical education and cognitive neuroscience? An exercise on prior knowledge in understanding.

PubMed

Ruiter, Dirk J; van Kesteren, Marlieke T R; Fernandez, Guillen

2012-05-01

A major challenge in contemporary research is how to connect medical education and cognitive neuroscience and achieve synergy between these domains. Based on this starting point we discuss how this may result in a common language about learning, more educationally focused scientific inquiry, and multidisciplinary research projects. As the topic of prior knowledge in understanding plays a strategic role in both medical education and cognitive neuroscience it is used as a central element in our discussion. A critical condition for the acquisition of new knowledge is the existence of prior knowledge, which can be built in a mental model or schema. Formation of schemas is a central event in student-centered active learning, by which mental models are constructed and reconstructed. These theoretical considerations from cognitive psychology foster scientific discussions that may lead to salient issues and questions for research with cognitive neuroscience. Cognitive neuroscience attempts to understand how knowledge, insight and experience are established in the brain and to clarify their neural correlates. Recently, evidence has been obtained that new information processed by the hippocampus can be consolidated into a stable, neocortical network more rapidly if this new information fits readily into a schema. Opportunities for medical education and medical education research can be created in a fruitful dialogue within an educational multidisciplinary platform. In this synergetic setting many questions can be raised by educational scholars interested in evidence-based education that may be highly relevant for integrative research and the further development of medical education.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

PubMed

Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

2015-04-01

SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development.

PubMed

Callens, Nina; Van Kuyk, Maaike; van Kuppenveld, Jet H; Drop, Stenvert L S; Cohen-Kettenis, Peggy T; Dessens, Arianne B

2016-11-01

The magnitude of sex differences in human brain and behavior and the respective contributions of biology versus socialization remain a topic of ongoing study in science. The preponderance of evidence attests to the notion that sexual differentiation processes are at least partially hormonally mediated, with high levels of prenatal androgens facilitating male-typed and inhibiting female-typed behaviors. In individuals with Disorders/Differences of Sex Development (DSD), hormonal profiles or sensitivities have been altered due to genetic influences, presumably affecting gender(ed) activity interests as well as gender identity development in a minority of the affected population. While continued postnatal androgen exposure in a number of DSD syndromes has been associated with higher rates of gender dysphoria and gender change, the role of a number of mediating and moderating factors, such as initial gender assignment, syndrome severity and clinical management remains largely unclear. Limited investigations of the associations between these identified influences and gendered development outcomes impede optimization of clinical care. Participants with DSD (n=123), recruited in the context of a Dutch multi-center follow-up audit, were divided in subgroups reflecting prenatal androgen exposure, genital appearance at birth and gender of rearing. Recalled childhood play and playmate preferences, gender identity and sexual orientation were measured with questionnaires and semi-structured interviews. Data were compared to those of control male (n=46) and female participants (n=79). The findings support that (a) prenatal androgen exposure has large effects on (gendered) activity interests, but to a much lesser extent on sexual orientation and that (b) initial gender of rearing remains a better predictor of gender identity contentedness than prenatal androgen exposure, beyond syndrome severity and medical treatment influences. Nonetheless, 3.3% of individuals with DSD in our sample self-reported gender dysphoria from an early age and changed gender, which further underlines the need for thorough long- term follow-up and specific clinical support. Copyright © 2016 Elsevier Inc. All rights reserved.

Conceptual Developments in Schema Theory.

ERIC Educational Resources Information Center

Bigenho, Frederick W., Jr.

The conceptual development of schema theory, the way an individual organizes knowledge, is discussed, reviewing a range of perspectives regarding schema. Schema has been defined as the interfacing of incoming information with prior knowledge, clustered in networks. These networks comprise a superordinate concept and supporting information. The…

Schematic memory components converge within angular gyrus during retrieval

PubMed Central

Wagner, Isabella C; van Buuren, Mariët; Kroes, Marijn CW; Gutteling, Tjerk P; van der Linden, Marieke; Morris, Richard G; Fernández, Guillén

2015-01-01

Mental schemas form associative knowledge structures that can promote the encoding and consolidation of new and related information. Schemas are facilitated by a distributed system that stores components separately, presumably in the form of inter-connected neocortical representations. During retrieval, these components need to be recombined into one representation, but where exactly such recombination takes place is unclear. Thus, we asked where different schema components are neuronally represented and converge during retrieval. Subjects acquired and retrieved two well-controlled, rule-based schema structures during fMRI on consecutive days. Schema retrieval was associated with midline, medial-temporal, and parietal processing. We identified the multi-voxel representations of different schema components, which converged within the angular gyrus during retrieval. Critically, convergence only happened after 24-hour-consolidation and during a transfer test where schema material was applied to novel but related trials. Therefore, the angular gyrus appears to recombine consolidated schema components into one memory representation. DOI: http://dx.doi.org/10.7554/eLife.09668.001 PMID:26575291

The Relation between Trait Mindfulness and Early Maladaptive Schemas in Men Seeking Substance Use Treatment

PubMed Central

Brasfield, Hope; Anderson, Scott; Stuart, Gregory L.

2014-01-01

Recent research has examined the relation between mindfulness and substance use, demonstrating that lower trait mindfulness is associated with increased substance use, and that mindfulness-based interventions help to reduce substance use. Research has also demonstrated that early maladaptive schemas are prevalent among individuals seeking substance use treatment and that targeting early maladaptive schemas in treatment may improve outcomes. However, no known research has examined the relation between mindfulness and early maladaptive schemas despite theoretical and empirical reasons to suspect their association. Therefore, the current study examined the relation between trait mindfulness and early maladaptive schemas among adult men seeking residential substance abuse treatment (N = 82). Findings demonstrated strong negative associations between trait mindfulness and 15 of the 18 early maladaptive schemas. Moreover, men endorsing multiple early maladaptive schemas reported lower trait mindfulness than men with fewer early maladaptive schemas. The implications of these findings for future research and treatment are discussed. PMID:26085852

DOE Office of Scientific and Technical Information (OSTI.GOV)

North, Michael J.

Schema-on-read is an agile approach to data storage and retrieval that defers investments in data organization until production queries need to be run by working with data directly in native form. Schema-on-read functions have been implemented in a wide range of analytical systems, most notably Hadoop. SchemaOnRead is a CRAN package that uses R’s flexible data representations to provide transparent and convenient support for the schema-on-read paradigm in R. The schema-on- read tools within the package include a single function call that recursively reads folders with text, comma separated value, raster image, R data, HDF5, NetCDF, spreadsheet, Weka, Epi Info,more » Pajek network, R network, HTML, SPSS, Systat, and Stata files. The provided tools can be used as-is or easily adapted to implement customized schema-on-read tool chains in R. This paper’s contribution is that it introduces and describes SchemaOnRead, the first R package specifically focused on providing explicit schema-on-read support in R.« less

ECG Rhythm Analysis with Expert and Learner-Generated Schemas in Novice Learners

ERIC Educational Resources Information Center

Blissett, Sarah; Cavalcanti, Rodrigo; Sibbald, Matthew

2015-01-01

Although instruction using expert-generated schemas is associated with higher diagnostic performance, implementation is resource intensive. Learner-generated schemas are an alternative, but may be limited by increases in cognitive load. We compared expert- and learner-generated schemas for learning ECG rhythm interpretation on diagnostic accuracy,…

Thai University Student Schemas and Anxiety Symptomatology

ERIC Educational Resources Information Center

Rhein, Douglas; Sukawatana, Parisa

2015-01-01

This study explores how early maladaptive schemas (EMSs) contribute to the development of anxiety symptomologies among college undergraduates (N = 110). The study was conducted by assessing the correlations between 18 schemas derived from Young's model of Early Maladaptive Schemas (EMSs) and anxiety symptoms using Zung Self-Rating Anxiety Scale…

Schema-Based Text Comprehension

ERIC Educational Resources Information Center

Ensar, Ferhat

2015-01-01

Schema is one of the most common terms used for classifying and constructing knowledge. Therefore, a schema is a pre-planned set of concepts. It usually contains social information and is used to represent chain of events, perceptions, situations, relationships and even objects. For example, Kant initially defines the idea of schema as some…

Level set methods for detonation shock dynamics using high-order finite elements

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dobrev, V. A.; Grogan, F. C.; Kolev, T. V.

Level set methods are a popular approach to modeling evolving interfaces. We present a level set ad- vection solver in two and three dimensions using the discontinuous Galerkin method with high-order nite elements. During evolution, the level set function is reinitialized to a signed distance function to maintain ac- curacy. Our approach leads to stable front propagation and convergence on high-order, curved, unstructured meshes. The ability of the solver to implicitly track moving fronts lends itself to a number of applications; in particular, we highlight applications to high-explosive (HE) burn and detonation shock dynamics (DSD). We provide results for two-more » and three-dimensional benchmark problems as well as applications to DSD.« less

Digital Smile Design concept delineates the final potential result of crown lengthening and porcelain veneers to correct a gummy smile.

PubMed

Trushkowsky, Richard; Arias, David Montalvo; David, Steven

Prior to initiating any treatment, it is necessary to visualize the desired outcomes. It then becomes possible to formulate the steps required to achieve this result. Digital Smile Design (DSD) utilizes patient input and information gathered through diagnostic procedures to create an esthetic treatment scheme. In the case presented here, the NYUCD Esthetic Evaluation Form, intraoral and extraoral photographs, mounted diagnostic casts, physical examination, and radiographs were the diagnostic modalities. The gathered information served as a starting point for a wax-up and intraoral mock-up. This case report demonstrates how the DSD served as a template for crown lengthening procedures and design of the final porcelain veneer restorations.

Psychological aspects of the treatment of patients with disorders of sex development.

PubMed

Sandberg, David E; Gardner, Melissa; Cohen-Kettenis, Peggy T

2012-10-01

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

An introduction to the Semantic Web for health sciences librarians*

PubMed Central

Robu, Ioana; Robu, Valentin; Thirion, Benoit

2006-01-01

Objectives: The paper (1) introduces health sciences librarians to the main concepts and principles of the Semantic Web (SW) and (2) briefly reviews a number of projects on the handling of biomedical information that uses SW technology. Methodology: The paper is structured into two main parts. “Semantic Web Technology” provides a high-level description, with examples, of the main standards and concepts: extensible markup language (XML), Resource Description Framework (RDF), RDF Schema (RDFS), ontologies, and their utility in information retrieval, concluding with mention of more advanced SW languages and their characteristics. “Semantic Web Applications and Research Projects in the Biomedical Field” is a brief review of the Unified Medical Language System (UMLS), Generalised Architecture for Languages, Encyclopedias and Nomenclatures in Medicine (GALEN), HealthCyberMap, LinkBase, and the thesaurus of the National Cancer Institute (NCI). The paper also mentions other benefits and by-products of the SW, citing projects related to them. Discussion and Conclusions: Some of the problems facing the SW vision are presented, especially the ways in which the librarians' expertise in organizing knowledge and in structuring information may contribute to SW projects. PMID:16636713

A Cognitive Therapy Approach to Increasing Father Involvement by Changing Restrictive Masculine Schemas

ERIC Educational Resources Information Center

Mahalik, James R.; Morrison, Jay A.

2006-01-01

Cognitive therapists may be able to help fathers increase their involvement with their children by identifying and changing restrictive masculine schemas that interfere with men's parenting roles. In this paper, we (a) discuss the development of restrictive masculine schemas, (b) explain how these schemas may affect men's involvement in fathering…

The explanatory power of Schema Theory: theoretical foundations and future applications in Ergonomics.

PubMed

Plant, Katherine L; Stanton, Neville A

2013-01-01

Schema Theory is intuitively appealing although it has not always received positive press; critics of the approach argue that the concept is too ambiguous and vague and there are inherent difficulties associated with measuring schemata. As such, the term schema can be met with scepticism and wariness. The purpose of this paper is to address the criticisms that have been levelled at Schema Theory by demonstrating how Schema Theory has been utilised in Ergonomics research, particularly in the key areas of situation awareness, naturalistic decision making and error. The future of Schema Theory is also discussed in light of its potential roles as a unifying theory in Ergonomics and in contributing to our understanding of distributed cognition. We conclude that Schema Theory has made a positive contribution to Ergonomics and with continued refinement of methods to infer and represent schemata it is likely that this trend will continue. This paper reviews the contribution that Schema Theory has made to Ergonomics research. The criticisms of the theory are addressed using examples from the areas of situation awareness, decision making and error.

Inductive creation of an annotation schema for manually indexing clinical conditions from emergency department reports

PubMed Central

Chapman, Wendy W.; Dowling, John N.

2006-01-01

Evaluating automated indexing applications requires comparing automatically indexed terms against manual reference standard annotations. However, there are no standard guidelines for determining which words from a textual document to include in manual annotations, and the vague task can result in substantial variation among manual indexers. We applied grounded theory to emergency department reports to create an annotation schema representing syntactic and semantic variables that could be annotated when indexing clinical conditions. We describe the annotation schema, which includes variables representing medical concepts (e.g., symptom, demographics), linguistic form (e.g., noun, adjective), and modifier types (e.g., anatomic location, severity). We measured the schema’s quality and found: (1) the schema was comprehensive enough to be applied to 20 unseen reports without changes to the schema; (2) agreement between author annotators applying the schema was high, with an F measure of 93%; and (3) an error analysis showed that the authors made complementary errors when applying the schema, demonstrating that the schema incorporates both linguistic and medical expertise. PMID:16230050

Baby Schema in Infant Faces Induces Cuteness Perception and Motivation for Caretaking in Adults.

PubMed

Glocker, Melanie L; Langleben, Daniel D; Ruparel, Kosha; Loughead, James W; Gur, Ruben C; Sachser, Norbert

2009-03-01

Ethologist Konrad Lorenz proposed that baby schema ('Kindchenschema') is a set of infantile physical features such as the large head, round face and big eyes that is perceived as cute and motivates caretaking behavior in other individuals, with the evolutionary function of enhancing offspring survival. Previous work on this fundamental concept was restricted to schematic baby representations or correlative approaches. Here, we experimentally tested the effects of baby schema on the perception of cuteness and the motivation for caretaking using photographs of infant faces. Employing quantitative techniques, we parametrically manipulated the baby schema content to produce infant faces with high (e.g. round face and high forehead), and low (e. g. narrow face and low forehead) baby schema features that retained all the characteristics of a photographic portrait. Undergraduate students (n = 122) rated these infants' cuteness and their motivation to take care of them. The high baby schema infants were rated as more cute and elicited stronger motivation for caretaking than the unmanipulated and the low baby schema infants. This is the first experimental proof of the baby schema effects in actual infant faces. Our findings indicate that the baby schema response is a critical function of human social cognition that may be the basis of caregiving and have implications for infant-caretaker interactions.

[The mediating role of the interpersonal schemas between parenting styles and psychological symptoms: a schema focused view].

PubMed

Soygüt, Gonca; Cakir, Zehra

2009-01-01

The first aim of this study was to examine the relationships between perceived parenting styles and interpersonal schemas. The second purpose was to investigate the mediator role of interpersonal schemas between perceived parenting styles and psychological symptoms. University students (N=94), ages ranging between 17-26, attending to different faculty and classes, have completed Interpersonal Schema Questionnaire, Young Parenting Inventory and Symptom Check List-90. A series of regression analyses revealed that perceived parenting styles have predictive power on a number of interpersonal schemas. Further analyses pointed out that the mediator role of Hostility situation of interpersonal schemas between psychological symptoms and normative, belittling/criticizing, pessimistic/worried parenting styles on the mother forms (Sobel z= 1.94-2.08, p < .01); and normative, belittling/criticizing, emotionally depriving, pessimistic/worried, punitive, and restricted/emotionally inhibited parenting styles (Sobel z= 2.20-2.86, p < .05-.01) on the father forms of the scales. Regression analyses pointed out the predictive power of perceived parenting styles on interpersonal schemas. Moreover, the mediator role of interpersonal schemas between perceived parenting styles and psychological symptoms was also observed. Excluding pessimistic/anxious parenting styles, perceived parenting styles of mothers and fathers differed in their relation to psychological symptoms. In overall evaluation, we believe that, although schemas and parental styles have some universalities in relation to their impacts on psychological health, further research is necessary to address their implications and possible paternal differences in our collectivistic cultural context.

Conceptual Model Formalization in a Semantic Interoperability Service Framework: Transforming Relational Database Schemas to OWL.

PubMed

Bravo, Carlos; Suarez, Carlos; González, Carolina; López, Diego; Blobel, Bernd

2014-01-01

Healthcare information is distributed through multiple heterogeneous and autonomous systems. Access to, and sharing of, distributed information sources are a challenging task. To contribute to meeting this challenge, this paper presents a formal, complete and semi-automatic transformation service from Relational Databases to Web Ontology Language. The proposed service makes use of an algorithm that allows to transform several data models of different domains by deploying mainly inheritance rules. The paper emphasizes the relevance of integrating the proposed approach into an ontology-based interoperability service to achieve semantic interoperability.

Self-Schemas, Depression, and the Processing of Personal Information in Children.

ERIC Educational Resources Information Center

Hammen, Constance; Zupan, Brian A.

1984-01-01

Investigates the applicability of the self-as-schema model to children and examines the extent of negative self-schemas in relatively depressed children among 61 elementary school students; most of the students were between 8 and 12 years old. Results were consistent with the self-as-schema hypotheses, and mood congruent content-specific recall…

From a concept to a word in a syntactically complete sentence: an fMRI study on spontaneous language production in an overt picture description task.

PubMed

Grande, Marion; Meffert, Elisabeth; Schoenberger, Eva; Jung, Stefanie; Frauenrath, Tobias; Huber, Walter; Hussmann, Katja; Moormann, Mareike; Heim, Stefan

2012-07-02

Spontaneous language has rarely been subjected to neuroimaging studies. This study therefore introduces a newly developed method for the analysis of linguistic phenomena observed in continuous language production during fMRI. Most neuroimaging studies investigating language have so far focussed on single word or - to a smaller extent - sentence processing, mostly due to methodological considerations. Natural language production, however, is far more than the mere combination of words to larger units. Therefore, the present study aimed at relating brain activation to linguistic phenomena like word-finding difficulties or syntactic completeness in a continuous language fMRI paradigm. A picture description task with special constraints was used to provoke hesitation phenomena and speech errors. The transcribed speech sample was segmented into events of one second and each event was assigned to one category of a complex schema especially developed for this purpose. The main results were: conceptual planning engages bilateral activation of the precuneus. Successful lexical retrieval is accompanied - particularly in comparison to unsolved word-finding difficulties - by the left middle and superior temporal gyrus. Syntactic completeness is reflected in activation of the left inferior frontal gyrus (IFG) (area 44). In sum, the method has proven to be useful for investigating the neural correlates of lexical and syntactic phenomena in an overt picture description task. This opens up new prospects for the analysis of spontaneous language production during fMRI. Copyright © 2012 Elsevier Inc. All rights reserved.

End-to-end interoperability and workflows from building architecture design to one or more simulations

DOEpatents

Chao, Tian-Jy; Kim, Younghun

2015-02-10

An end-to-end interoperability and workflows from building architecture design to one or more simulations, in one aspect, may comprise establishing a BIM enablement platform architecture. A data model defines data entities and entity relationships for enabling the interoperability and workflows. A data definition language may be implemented that defines and creates a table schema of a database associated with the data model. Data management services and/or application programming interfaces may be implemented for interacting with the data model. Web services may also be provided for interacting with the data model via the Web. A user interface may be implemented that communicates with users and uses the BIM enablement platform architecture, the data model, the data definition language, data management services and application programming interfaces to provide functions to the users to perform work related to building information management.

Development and Evaluation of a Clinical Note Section Header Terminology

PubMed Central

Denny, Joshua C.; Miller, Randolph A.; Johnson, Kevin B.; Spickard, Anderson

2008-01-01

Clinical documentation is often expressed in natural language text, yet providers often use common organizations that segment these notes in sections, such as “history of present illness” or “physical examination.” We developed a hierarchical section header terminology, supporting mappings to LOINC and other vocabularies; it contained 1109 concepts and 4332 synonyms. Physicians evaluated it compared to LOINC and the Evaluation and Management billing schema using a randomly selected corpus of history and physical notes. Evaluated documents contained a median of 54 sections and 27 “major sections.” There were 16,196 total sections in the evaluation note corpus. The terminology contained 99.9% of the clinical sections; LOINC matched 77% of section header concepts and 20% of section header strings in those documents. The section terminology may enable better clinical note understanding and interoperability. Future development and integration into natural language processing systems is needed. PMID:18999303

Rain attenuation studies from radiometric and rain DSD measurements at two tropical locations

NASA Astrophysics Data System (ADS)

Halder, Tuhina; Adhikari, Arpita; Maitra, Animesh

2018-05-01

Efficient use of satellite communication in tropical regions demands proper characterization of rain attenuation, particularly, in view of the available popular propagation models which are mostly based on temperate climatic data. Thus rain attenuations at frequencies 22.234, 23.834 and 31.4/30 GHz over two tropical locations Kolkata (22.57°N, 88.36°E, India) and Belem (1.45°S, 48.49° W, Brazil), have been estimated for the year 2010 and 2011, respectively. The estimation has been done utilizing ground-based disdrometer observations and radiometric measurements over Earth-space path. The results show that rain attenuation estimations from radiometric data are reliable only at low rain rates (<30 mm/h). However, the rain attenuation estimations from disdrometer measurements show good agreement with the ITU-R model, even at high rain rates (upto100 mm/h). Despite having significant variability in terms of drop size distribution (DSD), the attenuation values calculated from DSD data (disdrometer measurements) at Kolkata and Belem differ a little for the rain rates below 30 mm/h. However, the attenuation values, obtained from radiometric measurements at the two places, show significant deviations ranging from 0.54 dB to 3.2 dB up to a rain rate of 30 mm/h, on account of different rain heights, mean atmospheric temperatures and climatology of the two locations.

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

PubMed

Mendonca, Berenice B; Gomes, Nathalia Lisboa; Costa, Elaine M F; Inacio, Marlene; Martin, Regina M; Nishi, Mirian Y; Carvalho, Filomena Marino; Tibor, Francisco Denes; Domenice, Sorahia

2017-01-01

17β-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17β-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the previously reported cases of 17β-HSD3 deficiency adding our own cases. Copyright © 2016. Published by Elsevier Ltd.

Using raindrop size distributions from different types of disdrometer to establish weather radar algorithms

NASA Astrophysics Data System (ADS)

Baldini, Luca; Adirosi, Elisa; Roberto, Nicoletta; Vulpiani, Gianfranco; Russo, Fabio; Napolitano, Francesco

2015-04-01

Radar precipitation retrieval uses several relationships that parameterize precipitation properties (like rainfall rate and liquid water content and attenuation (in case of radars at attenuated frequencies such as those at C- and X- band) as a function of combinations of radar measurements. The uncertainty in such relations highly affects the uncertainty precipitation and attenuation estimates. A commonly used method to derive such relationships is to apply regression methods to precipitation measurements and radar observables simulated from datasets of drop size distributions (DSD) using microphysical and electromagnetic assumptions. DSD datasets are determined both by theoretical considerations (i.e. based on the assumption that the radar always samples raindrops whose sizes follow a gamma distribution) or from experimental measurements collected throughout the years by disdrometers. In principle, using long-term disdrometer measurements provide parameterizations more representative of a specific climatology. However, instrumental errors, specific of a disdrometer, can affect the results. In this study, different weather radar algorithms resulting from DSDs collected by diverse types of disdrometers, namely 2D video disdrometer, first and second generation of OTT Parsivel laser disdrometer, and Thies Clima laser disdrometer, in the area of Rome (Italy) are presented and discussed to establish at what extent dual-polarization radar algorithms derived from experimental DSD datasets are influenced by the different error structure of the different type of disdrometers used to collect the data.

Remote sensing of cloud droplet size distributions in DC3 with the UMBC-LACO Rainbow Polarimetric Imager (RPI)

NASA Astrophysics Data System (ADS)

Buczkowski, S.; Martins, J.; Fernandez-Borda, R.; Cieslak, D.; Hall, J.

2013-12-01

The UMBC Rainbow Polarimetric Imager is a small form factor VIS imaging polarimeter suitable for use on a number of platforms. An optical system based on a Phillips prism with three Bayer filter color detectors, each detecting a separate polarization state, allows simultaneous detection of polarization and spectral information. A Mueller matrix-like calibration scheme corrects for polarization artifacts in the optical train and allows retrieval of the polarization state of incoming light to better than 0.5%. Coupled with wide field of view optics (~90°), RPI can capture images of cloudbows over a wide range of aircraft headings and solar zenith angles for retrieval of cloud droplet size distribution (DSD) parameters. In May-June 2012, RPI was flown in a nadir port on the NASA DC-8 during the DC3 field campaign. We will show examples of cloudbow DSD parameter retrievals from the campaign to demonstrate the efficacy of such a system to terrestrial atmospheric remote sensing. RPI image from DC3 06/15/2012 flight. Left panel is raw image from the RPI 90° camera. Middle panel is Stokes 'q' parameter retrieved from full three camera dataset. Right panel is a horizontal cut in 'q' through the glory. Both middle and right panels clearly show cloudbow features which can be fit to infer cloud DSD parameters.

A data management infrastructure for bridge monitoring

NASA Astrophysics Data System (ADS)

Jeong, Seongwoon; Byun, Jaewook; Kim, Daeyoung; Sohn, Hoon; Bae, In Hwan; Law, Kincho H.

2015-04-01

This paper discusses a data management infrastructure framework for bridge monitoring applications. As sensor technologies mature and become economically affordable, their deployment for bridge monitoring will continue to grow. Data management becomes a critical issue not only for storing the sensor data but also for integrating with the bridge model to support other functions, such as management, maintenance and inspection. The focus of this study is on the effective data management of bridge information and sensor data, which is crucial to structural health monitoring and life cycle management of bridge structures. We review the state-of-the-art of bridge information modeling and sensor data management, and propose a data management framework for bridge monitoring based on NoSQL database technologies that have been shown useful in handling high volume, time-series data and to flexibly deal with unstructured data schema. Specifically, Apache Cassandra and Mongo DB are deployed for the prototype implementation of the framework. This paper describes the database design for an XML-based Bridge Information Modeling (BrIM) schema, and the representation of sensor data using Sensor Model Language (SensorML). The proposed prototype data management framework is validated using data collected from the Yeongjong Bridge in Incheon, Korea.

Workplace-based assessment: raters' performance theories and constructs.

PubMed

Govaerts, M J B; Van de Wiel, M W J; Schuwirth, L W T; Van der Vleuten, C P M; Muijtjens, A M M

2013-08-01

Weaknesses in the nature of rater judgments are generally considered to compromise the utility of workplace-based assessment (WBA). In order to gain insight into the underpinnings of rater behaviours, we investigated how raters form impressions of and make judgments on trainee performance. Using theoretical frameworks of social cognition and person perception, we explored raters' implicit performance theories, use of task-specific performance schemas and the formation of person schemas during WBA. We used think-aloud procedures and verbal protocol analysis to investigate schema-based processing by experienced (N = 18) and inexperienced (N = 16) raters (supervisor-raters in general practice residency training). Qualitative data analysis was used to explore schema content and usage. We quantitatively assessed rater idiosyncrasy in the use of performance schemas and we investigated effects of rater expertise on the use of (task-specific) performance schemas. Raters used different schemas in judging trainee performance. We developed a normative performance theory comprising seventeen inter-related performance dimensions. Levels of rater idiosyncrasy were substantial and unrelated to rater expertise. Experienced raters made significantly more use of task-specific performance schemas compared to inexperienced raters, suggesting more differentiated performance schemas in experienced raters. Most raters started to develop person schemas the moment they began to observe trainee performance. The findings further our understanding of processes underpinning judgment and decision making in WBA. Raters make and justify judgments based on personal theories and performance constructs. Raters' information processing seems to be affected by differences in rater expertise. The results of this study can help to improve rater training, the design of assessment instruments and decision making in WBA.

Sexual Self Schema as a Moderator of Sexual and Psychological Outcomes for Gynecologic Cancer Survivors

PubMed Central

Andersen, Barbara L.; Fowler, Jeffrey M.; Maxwell, G. Larry

2008-01-01

Abstract Gynecologic cancer patients are at high risk for emotional distress and sexual dysfunction. The present study tested sexual self schema as an individual difference variable that might be useful in identifying those at risk for unfavorable outcomes. First, we tested schema as a predictor of sexual outcomes,including bodychangestress. Second,we examined schema as a contributor to broader quality of life outcomes, specifically as a moderator of the relationship between sexual satisfaction and psychological statue (depressive symptoms and quality of life). A cross-sectional design was used. Gynecologic cancer survivors (N = 175) 2−10 years post treatment were assessed during routine follow up. In regression analyses controlling for sociodemographic variables, patients' physical symptoms/signs as evaluated by nurses, health status, and extent of partner sexual difficulties, sexual self schema accounted for significant variance in the prediction of current sexual behavior, responsiveness, and satisfaction. Moreover, schema moderated the relationship between sexual satisfaction and psychological outcomes, suggesting that a positive sexual self schema might “buffer” patients from depressive symptoms when their sexual satisfaction is low. Furthermore, the combination of a negative sexual self schema and low sexual satisfaction might heighten survivors' risk for psychological distress, including depressive symptomatology. These data support the consideration of sexual self schema as a predictor of sexual morbidity among gynecologic cancer survivors. PMID:18418707

Evaluation of optimized b-value sampling schemas for diffusion kurtosis imaging with an application to stroke patient data

PubMed Central

Yan, Xu; Zhou, Minxiong; Ying, Lingfang; Yin, Dazhi; Fan, Mingxia; Yang, Guang; Zhou, Yongdi; Song, Fan; Xu, Dongrong

2013-01-01

Diffusion kurtosis imaging (DKI) is a new method of magnetic resonance imaging (MRI) that provides non-Gaussian information that is not available in conventional diffusion tensor imaging (DTI). DKI requires data acquisition at multiple b-values for parameter estimation; this process is usually time-consuming. Therefore, fewer b-values are preferable to expedite acquisition. In this study, we carefully evaluated various acquisition schemas using different numbers and combinations of b-values. Acquisition schemas that sampled b-values that were distributed to two ends were optimized. Compared to conventional schemas using equally spaced b-values (ESB), optimized schemas require fewer b-values to minimize fitting errors in parameter estimation and may thus significantly reduce scanning time. Following a ranked list of optimized schemas resulted from the evaluation, we recommend the 3b schema based on its estimation accuracy and time efficiency, which needs data from only 3 b-values at 0, around 800 and around 2600 s/mm2, respectively. Analyses using voxel-based analysis (VBA) and region-of-interest (ROI) analysis with human DKI datasets support the use of the optimized 3b (0, 1000, 2500 s/mm2) DKI schema in practical clinical applications. PMID:23735303

Early Maladaptive Schemas and Aggression in Men Seeking Residential Substance Use Treatment

PubMed Central

Shorey, Ryan C.; Elmquist, Joanna; Anderson, Scott; Stuart, Gregory L.

2015-01-01

Social-cognitive theories of aggression postulate that individuals who perpetrate aggression are likely to have high levels of maladaptive cognitive schemas that increase risk for aggression. Indeed, recent research has begun to examine whether early maladaptive schemas may increase the risk for aggression. However, no known research has examined this among individuals in substance use treatment, despite aggression and early maladaptive schemas being more prevalent among individuals with a substance use disorder than the general population. Toward this end, we examined the relationship between early maladaptive schemas and aggression in men in a residential substance use treatment facility (N = 106). Utilizing pre-existing patient records, results demonstrated unique associations between early maladaptive schema domains and aggression depending on the type of aggression and schema domain examined, even after controlling for substance use, antisocial personality, age, and education. The Impaired Limits domain was positively associated with verbal aggression, aggressive attitude, and overall aggression, whereas the Disconnection and Rejection domain was positively associated with physical aggression. These findings are consistent with social-cognitive models of aggression and advance our understanding of how early maladaptive schemas may influence aggression. The implications of these findings for future research are discussed. PMID:25897180

Integration of Schemas on the Pre-Design Level Using the KCPM-Approach

NASA Astrophysics Data System (ADS)

Vöhringer, Jürgen; Mayr, Heinrich C.

Integration is a central research and operational issue in information system design and development. It can be conducted on the system, schema, and view or data level. On the system level, integration deals with the progressive linking and testing of system components to merge their functional and technical characteristics and behavior into a comprehensive, interoperable system. Schema integration comprises the comparison and merging of two or more schemas, usually conceptual database schemas. The integration of data deals with merging the contents of multiple sources of related data. View integration is similar to schema integration, however focuses on views and queries on these instead of schemas. All these types of integration have in common, that two or more sources are merged and previously compared, in order to identify matches and mismatches as well as conflicts and inconsistencies. The sources may stem from heterogeneous companies, organizational units or projects. Integration enables the reuse and combined use of source components.

Maladaptive schemas as mediators of the relationship between previous victimizations in the family and dating violence victimization in adolescents.

PubMed

Calvete, Esther; Gámez-Guadix, Manuel; Fernández-Gonzalez, Liria; Orue, Izaskun; Borrajo, Erika

2018-07-01

This study examined whether exposure to family violence, both in the form of direct victimization and witnessing violence, predicted dating violence victimization in adolescents through maladaptive schemas. A sample of 933 adolescents (445 boys and 488 girls), aged between 13 and 18 (M = 15.10), participated in a three-year longitudinal study. They completed measures of exposure to family violence, maladaptive schemas of disconnection/rejection, and dating violence victimization. The findings indicate that witnessing family violence predicts the increase of dating violence victimization over time, through the mediation of maladaptive schemas in girls, but not in boys. Direct victimization in the family predicts dating violence victimization directly, without the mediation of schemas. In addition, maladaptive schemas contribute to the perpetuation of dating violence victimization over time. These findings provide new opportunities for preventive interventions, as maladaptive schemas can be modified. Copyright © 2018 Elsevier Ltd. All rights reserved.

Partitioning an object-oriented terminology schema.

PubMed

Gu, H; Perl, Y; Halper, M; Geller, J; Kuo, F; Cimino, J J

2001-07-01

Controlled medical terminologies are increasingly becoming strategic components of various healthcare enterprises. However, the typical medical terminology can be difficult to exploit due to its extensive size and high density. The schema of a medical terminology offered by an object-oriented representation is a valuable tool in providing an abstract view of the terminology, enhancing comprehensibility and making it more usable. However, schemas themselves can be large and unwieldy. We present a methodology for partitioning a medical terminology schema into manageably sized fragments that promote increased comprehension. Our methodology has a refinement process for the subclass hierarchy of the terminology schema. The methodology is carried out by a medical domain expert in conjunction with a computer. The expert is guided by a set of three modeling rules, which guarantee that the resulting partitioned schema consists of a forest of trees. This makes it easier to understand and consequently use the medical terminology. The application of our methodology to the schema of the Medical Entities Dictionary (MED) is presented.

Relationship of negative self-schemas and attachment styles with appearance schemas.

PubMed

Ledoux, Tracey; Winterowd, Carrie; Richardson, Tamara; Clark, Julie Dorton

2010-06-01

The purpose was to test, among women, the relationship between negative self-schemas and styles of attachment with men and women and two types of appearance investment (Self-evaluative and Motivational Salience). Predominantly Caucasian undergraduate women (N=194) completed a modified version of the Relationship Questionnaire, the Young Schema Questionnaire-Short Form, and the Appearance Schemas Inventory-Revised. Linear multiple regression analyses were conducted with Motivational Salience and Self-evaluative Salience of appearance serving as dependent variables and relevant demographic variables, negative self-schemas, and styles of attachment to men serving as independent variables. Styles of attachment to women were not entered into these regression models because Pearson correlations indicated they were not related to either dependent variable. Self-evaluative Salience of appearance was related to impaired autonomy and performance negative self-schema and the preoccupation style of attachment with men, while Motivational Salience of appearance was related only to the preoccupation style of attachment with men. 2010 Elsevier Ltd. All rights reserved.

Neural mechanisms of mental schema: a triplet of delta, low beta/spindle and ripple oscillations.

PubMed

Ohki, Takefumi; Takei, Yuichi

2018-02-06

Schemas are higher-level knowledge structures that integrate and organise lower-level representations. As internal templates, schemas are formed according to how events are perceived, interpreted and remembered. Although these higher-level units are assumed to play a fundamental role in our daily life from an early age, the neuronal basis and mechanisms of schema formation and use remain largely unknown. It is important to elucidate how the brain constructs and maintains these higher-level units. In order to examine the possible neural underpinnings of schema, we recapitulate previous work and discuss their findings related to schemas as the brain template. We specifically focused on low beta/spindle oscillations, which are assumed to be the key components of schemas, and propose that the brain template is implemented with a triplet of neural oscillations, that is delta, low beta/spindle and ripple oscillations. © 2018 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Role of Father–Child Relational Quality in Early Maladaptive Schemas

PubMed Central

Monirpoor, Nader; Gholamyzarch, Morteza; Tamaddonfard, Mohsen; Khoosfi, Helen; Ganjali, Ali Reza

2012-01-01

Background Primary maladaptive schemas, which are the basis of high-risk behavior and psychological disorders, result from childhood experiences with significant objects, such as fathers, in different developmental phases. Objectives This endeavor examined the role of the father in predicting these schemas. Patients and Methods A total of 345 Islamic Azad University students (Qom Branch) who were chosen through convenience sampling completed the Young Schema Questionnaire, the Parental Bonding Instrument, and the Parent–Child Relationship Survey. Results A multivariate regression analysis indicated that anumber of aspects of the father–child relationship, including care, emotional interaction, positive affection, the effective relationship, and excessive support, predict particular schemas. Conclusions Therefore, these findings suggested that psychotherapists examine the different aspects of the father–child relationship when restructuring schemas. PMID:24971232

The Relation Between Antisocial and Borderline Personality Symptoms and Early Maladaptive Schemas in a Treatment Seeking Sample of Male Substance Users

PubMed Central

Shorey, Ryan C.; Anderson, Scott; Stuart, Gregory L.

2014-01-01

Individuals with substance use disorders are more likely to have antisocial and borderline personality disorder than non-substance abusers. Recently, research has examined the relations between early maladaptive schemas and personality disorders, as early maladaptive schemas are believed to underlie personality disorders. However, there is a dearth of research on the relations between early maladaptive schemas and personality disorders among individuals seeking treatment for substance abuse. The current study examined the relations among early maladaptive schemas and antisocial and borderline personality within in a sample of men seeking substance abuse treatment (n = 98). Results demonstrated that early maladaptive schema domains were associated with antisocial and borderline personality symptoms. Implications of these findings for substance use treatment and research are discussed. PMID:23650153

Explaining sex differences in managerial career satisfier preferences: the role of gender self-schema.

PubMed

Eddleston, Kimberly A; Veiga, John F; Powell, Gary N

2006-03-01

Using survey data from 400 managers, the authors examined whether gender self-schema would explain sex differences in preferences for status-based and socioemotional career satisfiers. Female gender self-schema, represented by femininity and family role salience, completely mediated the relationship between managers' sex and preferences for socioemotional career satisfiers. However, male gender self-schema, represented by masculinity and career role salience, did not mediate the relationship between managers' sex and preferences for status-based career satisfiers. As expected, male managers regarded status-based career satisfiers as more important and socioemotional career satisfiers as less important than female managers did. The proposed conceptualization of male and female gender self-schemas, which was supported by the data, enhances understanding of adult self-schema and work-related attitudes and behavior.

Biological Dynamics Markup Language (BDML): an open format for representing quantitative biological dynamics data

PubMed Central

Kyoda, Koji; Tohsato, Yukako; Ho, Kenneth H. L.; Onami, Shuichi

2015-01-01

Motivation: Recent progress in live-cell imaging and modeling techniques has resulted in generation of a large amount of quantitative data (from experimental measurements and computer simulations) on spatiotemporal dynamics of biological objects such as molecules, cells and organisms. Although many research groups have independently dedicated their efforts to developing software tools for visualizing and analyzing these data, these tools are often not compatible with each other because of different data formats. Results: We developed an open unified format, Biological Dynamics Markup Language (BDML; current version: 0.2), which provides a basic framework for representing quantitative biological dynamics data for objects ranging from molecules to cells to organisms. BDML is based on Extensible Markup Language (XML). Its advantages are machine and human readability and extensibility. BDML will improve the efficiency of development and evaluation of software tools for data visualization and analysis. Availability and implementation: A specification and a schema file for BDML are freely available online at http://ssbd.qbic.riken.jp/bdml/. Contact: sonami@riken.jp Supplementary Information: Supplementary data are available at Bioinformatics online. PMID:25414366

Biological Dynamics Markup Language (BDML): an open format for representing quantitative biological dynamics data.

PubMed

Kyoda, Koji; Tohsato, Yukako; Ho, Kenneth H L; Onami, Shuichi

2015-04-01

Recent progress in live-cell imaging and modeling techniques has resulted in generation of a large amount of quantitative data (from experimental measurements and computer simulations) on spatiotemporal dynamics of biological objects such as molecules, cells and organisms. Although many research groups have independently dedicated their efforts to developing software tools for visualizing and analyzing these data, these tools are often not compatible with each other because of different data formats. We developed an open unified format, Biological Dynamics Markup Language (BDML; current version: 0.2), which provides a basic framework for representing quantitative biological dynamics data for objects ranging from molecules to cells to organisms. BDML is based on Extensible Markup Language (XML). Its advantages are machine and human readability and extensibility. BDML will improve the efficiency of development and evaluation of software tools for data visualization and analysis. A specification and a schema file for BDML are freely available online at http://ssbd.qbic.riken.jp/bdml/. Supplementary data are available at Bioinformatics online. © The Author 2014. Published by Oxford University Press.

GeoSciML and EarthResourceML Update, 2012

NASA Astrophysics Data System (ADS)

Richard, S. M.; Commissionthe Management; Application Inte, I.

2012-12-01

CGI Interoperability Working Group activities during 2012 include deployment of services using the GeoSciML-Portrayal schema, addition of new vocabularies to support properties added in version 3.0, improvements to server software for deploying services, introduction of EarthResourceML v.2 for mineral resources, and collaboration with the IUSS on a markup language for soils information. GeoSciML and EarthResourceML have been used as the basis for the INSPIRE Geology and Mineral Resources specifications respectively. GeoSciML-Portrayal is an OGC GML simple-feature application schema for presentation of geologic map unit, contact, and shear displacement structure (fault and ductile shear zone) descriptions in web map services. Use of standard vocabularies for geologic age and lithology enables map services using shared legends to achieve visual harmonization of maps provided by different services. New vocabularies have been added to the collection of CGI vocabularies provided to support interoperable GeoSciML services, and can be accessed through http://resource.geosciml.org. Concept URIs can be dereferenced to obtain SKOS rdf or html representations using the SISSVoc vocabulary service. New releases of the FOSS GeoServer application greatly improve support for complex XML feature schemas like GeoSciML, and the ArcGIS for INSPIRE extension implements similar complex feature support for ArcGIS Server. These improved server implementations greatly facilitate deploying GeoSciML services. EarthResourceML v2 adds features for information related to mining activities. SoilML provides an interchange format for soil material, soil profile, and terrain information. Work is underway to add GeoSciML to the portfolio of Open Geospatial Consortium (OGC) specifications.

Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications.

PubMed

de Vries, Annelou L C; Doreleijers, Theo A H; Cohen-Kettenis, Peggy T

2007-06-01

This article reviews studies on gender identity outcome in individuals with disorders of sex development (DSD). It appears that a high percentage of affected individuals suffer from gender dysphoria. However, these figures differ substantially among the various DSD and they never reach 100%. From the studies it also becomes clear that a distinction should be made between gender role behavior and gender identity. Put in a broader theoretical framework, there is now more evidence that biological factors influence the development of gender role behavior than gender identity. Developmental psychology studies add evidence that social and psychological factors play a role as well in gender development. Clinicians should be aware of, but not overestimate the influences of neurobiological factors in gender development.

Early syntactic creativity: a usage-based approach.

PubMed

Lieven, Elena; Behrens, Heike; Speares, Jennifer; Tomasello, Michael

2003-05-01

The aim of the current study was to determine the degree to which a sample of one child's creative utterances related to utterances that the child previously produced. The utterances to be accounted for were all of the intelligible, multi-word utterances produced by the child in a single hour of interaction with her mother early in her third year of life (at age 2;1.11). We used a high-density database consisting of 5 hours of recordings per week together with a maternal diary for the previous 6 weeks. Of the 295 multi-word utterances on tape, 37% were 'novel' in the sense that they had not been said in their entirety before. Using a morpheme-matching method, we identified the way(s) in which each novel utterance differed from its closest match in the preceding corpus. In 74% of the cases we required only one operation to match the previous utterance and the great majority of these consisted of the substitution of a word (usually a noun) into a previous utterance or schema. Almost all the other single-operation utterances involved adding a word onto the beginning or end of a previous utterance. 26% of the novel, multi-word utterances required more than one operation to match the closest previous utterance, although many of these only involved a combination of the two operations seen for the single-operation utterances. Some others were, however, more complex to match. The results suggest that the relatively high degree of creativity in early English child language could be at least partially based upon entrenched schemas and a small number of simple operations to modify them. We discuss the implications of these results for the interplay in language production between strings registered in memory and categorial knowledge.

BioWarehouse: a bioinformatics database warehouse toolkit

PubMed Central

Lee, Thomas J; Pouliot, Yannick; Wagner, Valerie; Gupta, Priyanka; Stringer-Calvert, David WJ; Tenenbaum, Jessica D; Karp, Peter D

2006-01-01

Background This article addresses the problem of interoperation of heterogeneous bioinformatics databases. Results We introduce BioWarehouse, an open source toolkit for constructing bioinformatics database warehouses using the MySQL and Oracle relational database managers. BioWarehouse integrates its component databases into a common representational framework within a single database management system, thus enabling multi-database queries using the Structured Query Language (SQL) but also facilitating a variety of database integration tasks such as comparative analysis and data mining. BioWarehouse currently supports the integration of a pathway-centric set of databases including ENZYME, KEGG, and BioCyc, and in addition the UniProt, GenBank, NCBI Taxonomy, and CMR databases, and the Gene Ontology. Loader tools, written in the C and JAVA languages, parse and load these databases into a relational database schema. The loaders also apply a degree of semantic normalization to their respective source data, decreasing semantic heterogeneity. The schema supports the following bioinformatics datatypes: chemical compounds, biochemical reactions, metabolic pathways, proteins, genes, nucleic acid sequences, features on protein and nucleic-acid sequences, organisms, organism taxonomies, and controlled vocabularies. As an application example, we applied BioWarehouse to determine the fraction of biochemically characterized enzyme activities for which no sequences exist in the public sequence databases. The answer is that no sequence exists for 36% of enzyme activities for which EC numbers have been assigned. These gaps in sequence data significantly limit the accuracy of genome annotation and metabolic pathway prediction, and are a barrier for metabolic engineering. Complex queries of this type provide examples of the value of the data warehousing approach to bioinformatics research. Conclusion BioWarehouse embodies significant progress on the database integration problem for bioinformatics. PMID:16556315

BioWarehouse: a bioinformatics database warehouse toolkit.

PubMed

Lee, Thomas J; Pouliot, Yannick; Wagner, Valerie; Gupta, Priyanka; Stringer-Calvert, David W J; Tenenbaum, Jessica D; Karp, Peter D

2006-03-23

This article addresses the problem of interoperation of heterogeneous bioinformatics databases. We introduce BioWarehouse, an open source toolkit for constructing bioinformatics database warehouses using the MySQL and Oracle relational database managers. BioWarehouse integrates its component databases into a common representational framework within a single database management system, thus enabling multi-database queries using the Structured Query Language (SQL) but also facilitating a variety of database integration tasks such as comparative analysis and data mining. BioWarehouse currently supports the integration of a pathway-centric set of databases including ENZYME, KEGG, and BioCyc, and in addition the UniProt, GenBank, NCBI Taxonomy, and CMR databases, and the Gene Ontology. Loader tools, written in the C and JAVA languages, parse and load these databases into a relational database schema. The loaders also apply a degree of semantic normalization to their respective source data, decreasing semantic heterogeneity. The schema supports the following bioinformatics datatypes: chemical compounds, biochemical reactions, metabolic pathways, proteins, genes, nucleic acid sequences, features on protein and nucleic-acid sequences, organisms, organism taxonomies, and controlled vocabularies. As an application example, we applied BioWarehouse to determine the fraction of biochemically characterized enzyme activities for which no sequences exist in the public sequence databases. The answer is that no sequence exists for 36% of enzyme activities for which EC numbers have been assigned. These gaps in sequence data significantly limit the accuracy of genome annotation and metabolic pathway prediction, and are a barrier for metabolic engineering. Complex queries of this type provide examples of the value of the data warehousing approach to bioinformatics research. BioWarehouse embodies significant progress on the database integration problem for bioinformatics.

Sleep Spindle Density Predicts the Effect of Prior Knowledge on Memory Consolidation

PubMed Central

Lambon Ralph, Matthew A.; Kempkes, Marleen; Cousins, James N.; Lewis, Penelope A.

2016-01-01

Information that relates to a prior knowledge schema is remembered better and consolidates more rapidly than information that does not. Another factor that influences memory consolidation is sleep and growing evidence suggests that sleep-related processing is important for integration with existing knowledge. Here, we perform an examination of how sleep-related mechanisms interact with schema-dependent memory advantage. Participants first established a schema over 2 weeks. Next, they encoded new facts, which were either related to the schema or completely unrelated. After a 24 h retention interval, including a night of sleep, which we monitored with polysomnography, participants encoded a second set of facts. Finally, memory for all facts was tested in a functional magnetic resonance imaging scanner. Behaviorally, sleep spindle density predicted an increase of the schema benefit to memory across the retention interval. Higher spindle densities were associated with reduced decay of schema-related memories. Functionally, spindle density predicted increased disengagement of the hippocampus across 24 h for schema-related memories only. Together, these results suggest that sleep spindle activity is associated with the effect of prior knowledge on memory consolidation. SIGNIFICANCE STATEMENT Episodic memories are gradually assimilated into long-term memory and this process is strongly influenced by sleep. The consolidation of new information is also influenced by its relationship to existing knowledge structures, or schemas, but the role of sleep in such schema-related consolidation is unknown. We show that sleep spindle density predicts the extent to which schemas influence the consolidation of related facts. This is the first evidence that sleep is associated with the interaction between prior knowledge and long-term memory formation. PMID:27030764

A Space Surveillance Ontology: Captured in an XML Schema

DTIC Science & Technology

2000-10-01

characterization in a way most appropriate to a sub- domain. 6. The commercial market is embracing XML, and the military can take advantage of this significant...the space surveillance ontology effort to two key efforts: the Defense Information Infrastructure Common Operating Environment (DII COE) XML...strongly believe XML schemas will supplant them. Some of the advantages that XML schemas provide over DTDs include: • Strong data typing: The XML Schema

Exploring revictimization process among Turkish women: The role of early maladaptive schemas on the link between child abuse and partner violence.

PubMed

Atmaca, Sinem; Gençöz, Tülin

2016-02-01

The purpose of the current study is to explore the revictimization process between child abuse and neglect (CAN), and intimate partner violence (IPV) based on the schema theory perspective. For this aim, 222 married women recruited in four central cities of Turkey participated in the study. Results indicated that early negative CAN experiences increased the risk of being exposed to later IPV. Specifically, emotional abuse and sexual abuse in the childhood predicted the four subtypes of IPV, which are physical, psychological, and sexual violence, and injury, while physical abuse only associated with physical violence. To explore the mediational role of early maladaptive schemas (EMSs) on this association, first, five schema domains were tested via Parallel Multiple Mediation Model. Results indicated that only Disconnection/Rejection (D/R) schema domains mediated the association between CAN and IPV. Second, to determine the particular mediational roles of each schema, eighteen EMS were tested as mediators, and results showed that Emotional Deprivation Schema and Vulnerability to Harm or Illness Schema mediated the association between CAN and IPV. These findings provided an empirical support for the crucial roles of EMSs on the effect of revictimization process. Clinical implications were discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

PubMed Central

Malikova, Jana; Camats, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa E.

2014-01-01

Context Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obesity with age. Obesity might be mediated through Sf-1 regulating activity of brain-derived neurotrophic factor (BDNF), an important regulator of energy balance in the ventromedial hypothalamus. Objective To characterize novel SF-1 gene variants in 4 families, clinical, genetic and functional studies were performed with respect to steroidogenesis and energy balance. Patients 5 patients with 46,XY DSD were found to harbor NR5A1/SF-1 mutations including 2 novel variations. One patient harboring a novel mutation also suffered from adrenal insufficiency. Methods SF-1 mutations were studied in cell systems (HEK293, JEG3) for impact on transcription of genes involved in steroidogenesis (CYP11A1, CYP17A1, HSD3B2) and in energy balance (BDNF). BDNF regulation by SF-1 was studied by promoter assays (JEG3). Results Two novel NR5A1/SF-1 mutations (Glu7Stop, His408Profs*159) were confirmed. Glu7Stop is the 4th reported SF-1 mutation causing DSD and adrenal insufficiency. In vitro studies revealed that transcription of the BDNF gene is regulated by SF-1, and that mutant SF-1 decreased BDNF promoter activation (similar to steroid enzyme promoters). However, clinical data from 16 subjects carrying SF-1 mutations showed normal birth weight and BMI. Conclusions Glu7Stop and His408Profs*159 are novel SF-1 mutations identified in patients with 46,XY DSD and adrenal insufficiency (Glu7Stop). In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance. However, in contrast to mice, consequences on weight were not found in humans with SF-1 mutations. PMID:25122490

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

PubMed

Malikova, Jana; Camats, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa E

2014-01-01

Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obesity with age. Obesity might be mediated through Sf-1 regulating activity of brain-derived neurotrophic factor (BDNF), an important regulator of energy balance in the ventromedial hypothalamus. To characterize novel SF-1 gene variants in 4 families, clinical, genetic and functional studies were performed with respect to steroidogenesis and energy balance. 5 patients with 46,XY DSD were found to harbor NR5A1/SF-1 mutations including 2 novel variations. One patient harboring a novel mutation also suffered from adrenal insufficiency. SF-1 mutations were studied in cell systems (HEK293, JEG3) for impact on transcription of genes involved in steroidogenesis (CYP11A1, CYP17A1, HSD3B2) and in energy balance (BDNF). BDNF regulation by SF-1 was studied by promoter assays (JEG3). Two novel NR5A1/SF-1 mutations (Glu7Stop, His408Profs*159) were confirmed. Glu7Stop is the 4th reported SF-1 mutation causing DSD and adrenal insufficiency. In vitro studies revealed that transcription of the BDNF gene is regulated by SF-1, and that mutant SF-1 decreased BDNF promoter activation (similar to steroid enzyme promoters). However, clinical data from 16 subjects carrying SF-1 mutations showed normal birth weight and BMI. Glu7Stop and His408Profs*159 are novel SF-1 mutations identified in patients with 46,XY DSD and adrenal insufficiency (Glu7Stop). In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance. However, in contrast to mice, consequences on weight were not found in humans with SF-1 mutations.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

PubMed Central

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz‐de‐Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C

2016-01-01

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309–320, 2016. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc. PMID:28033660

Elucidation of Formulation and Delivery Device-Related Effects on In Vitro Performance of Nasal Spray with Implication to Rational Product Specification Identification.

PubMed

Grmaš, Jernej; Stare, Katarina; Božič, Dane; Injac, Rade; Dreu, Rok

2017-08-01

The aim of this work is to use an experimental design approach to identify and study influential formulation and delivery device properties, which can be controlled by final product manufacturer, to establish design space, within which desired in vitro performance can be reached. Combining three factors, viscosity of suspension, nozzle orifice diameter (OD), and shot weight (SW), at three levels resulted in D-optimal experimental design with 20 runs. Responses within this study were droplet size distribution (DSD) and spray pattern (SP) in vitro tests. In addition, the amount of mechanical work needed for actuation was integrated from force profiles and used as a response. Results were fit to quadratic model by regression, which allowed also for determination of second-order and interaction effects between factors. Models were further optimized by keeping significant terms only. Optimized models were used to create response surfaces and design space with confidence levels. Viscosity has a dominant effect on DSD and modest effect on SP, with lower viscosities related to generation of smaller DSD and larger SP. Orifice diameter was found to have the highest impact on SP, with larger diameter resulting in larger SP. This effect was additionally confirmed by results of Plume Geometry in vitro test. Shot weight factor exerts significant influence on all tested metrics. Work, however, did not vary greatly with suspension viscosity or orifice diameter. Shot weight is the most dominant factor for work and important for DSD having a positive effect on both responses. In the case of SP, its relationship with shot weight is described by second-order polynomial fit. Inspection of raw data revealed that density of droplets within SP area is different for different shot weights. Presented study elucidated an inherent relationship between factors and responses and established mathematical models (response surfaces) for predictive purposes to target specific in vitro performance of nasal sprays by appropriate specification of factors, taking into account control space with included risk and uncertainty analysis.

Correlates of African American Men's Sexual Schemas

PubMed Central

Morales, Dawn A.; Coyne-Beasley, Tamera; St. Lawrence, Janet

2013-01-01

Sexual schemas are cognitive representations of oneself as a sexual being and aid in the processing of sexually relevant information. We examined the relationship between sociosexuality (attitudes about casual sex), masculine ideology (attitudes toward traditional men and male roles), and cultural centrality (strength of identity with racial group) as significant psychosocial and sociocultural predictors in shaping young, heterosexual African American men's sexual schemas. A community sample (n=133) of men in a southeastern city of the United States completed quantitative self-report measures examining their attitudes and behavior related to casual sex, beliefs about masculinity, racial and cultural identity, and self-views of various sexual aspects of themselves. Results indicated that masculine ideology and cultural centrality were both positively related to men's sexual schemas. Cultural centrality explained 12 % of the variance in level of sexual schema, and had the strongest correlation of the predictor variables with sexual schema (r=.36). The need for more attention to the bidirectional relationships between masculinity, racial/cultural identity, and sexual schemas in prevention, intervention, and public health efforts for African American men is discussed. PMID:24031118

The acquisition process of musical tonal schema: implications from connectionist modeling.

PubMed

Matsunaga, Rie; Hartono, Pitoyo; Abe, Jun-Ichi

2015-01-01

Using connectionist modeling, we address fundamental questions concerning the acquisition process of musical tonal schema of listeners. Compared to models of previous studies, our connectionist model (Learning Network for Tonal Schema, LeNTS) was better equipped to fulfill three basic requirements. Specifically, LeNTS was equipped with a learning mechanism, bound by culture-general properties, and trained by sufficient melody materials. When exposed to Western music, LeNTS acquired musical 'scale' sensitivity early and 'harmony' sensitivity later. The order of acquisition of scale and harmony sensitivities shown by LeNTS was consistent with the culture-specific acquisition order shown by musically westernized children. The implications of these results for the acquisition process of a tonal schema of listeners are as follows: (a) the acquisition process may entail small and incremental changes, rather than large and stage-like changes, in corresponding neural circuits; (b) the speed of schema acquisition may mainly depend on musical experiences rather than maturation; and (c) the learning principles of schema acquisition may be culturally invariant while the acquired tonal schemas are varied with exposed culture-specific music.

The acquisition process of musical tonal schema: implications from connectionist modeling

PubMed Central

Matsunaga, Rie; Hartono, Pitoyo; Abe, Jun-ichi

2015-01-01

Using connectionist modeling, we address fundamental questions concerning the acquisition process of musical tonal schema of listeners. Compared to models of previous studies, our connectionist model (Learning Network for Tonal Schema, LeNTS) was better equipped to fulfill three basic requirements. Specifically, LeNTS was equipped with a learning mechanism, bound by culture-general properties, and trained by sufficient melody materials. When exposed to Western music, LeNTS acquired musical ‘scale’ sensitivity early and ‘harmony’ sensitivity later. The order of acquisition of scale and harmony sensitivities shown by LeNTS was consistent with the culture-specific acquisition order shown by musically westernized children. The implications of these results for the acquisition process of a tonal schema of listeners are as follows: (a) the acquisition process may entail small and incremental changes, rather than large and stage-like changes, in corresponding neural circuits; (b) the speed of schema acquisition may mainly depend on musical experiences rather than maturation; and (c) the learning principles of schema acquisition may be culturally invariant while the acquired tonal schemas are varied with exposed culture-specific music. PMID:26441725

Manchester visual query language

NASA Astrophysics Data System (ADS)

Oakley, John P.; Davis, Darryl N.; Shann, Richard T.

1993-04-01

We report a database language for visual retrieval which allows queries on image feature information which has been computed and stored along with images. The language is novel in that it provides facilities for dealing with feature data which has actually been obtained from image analysis. Each line in the Manchester Visual Query Language (MVQL) takes a set of objects as input and produces another, usually smaller, set as output. The MVQL constructs are mainly based on proven operators from the field of digital image analysis. An example is the Hough-group operator which takes as input a specification for the objects to be grouped, a specification for the relevant Hough space, and a definition of the voting rule. The output is a ranked list of high scoring bins. The query could be directed towards one particular image or an entire image database, in the latter case the bins in the output list would in general be associated with different images. We have implemented MVQL in two layers. The command interpreter is a Lisp program which maps each MVQL line to a sequence of commands which are used to control a specialized database engine. The latter is a hybrid graph/relational system which provides low-level support for inheritance and schema evolution. In the paper we outline the language and provide examples of useful queries. We also describe our solution to the engineering problems associated with the implementation of MVQL.

Development of geotechnical data schema in transportation : final report.

DOT National Transportation Integrated Search

2012-12-01

The objective of "Development of Geotechnical Data Schema in Transportation" is to develop an : international standard interchange format for geotechnical data. This standard will include a data : dictionary and XML schema which are GML compliant. Th...

Detonation Shock Dynamics Calibration for Non-Ideal He: Anfo

NASA Astrophysics Data System (ADS)

Short, Mark; Salyer, Terry R.; Aslam, Tariq D.; Kiyanda, Charles B.; Morris, John S.; Zimmerly, Tony

2009-12-01

Linear Dn-κ detonation shock dynamics (DSD) fitting forms are obtained for four ammonium nitrate-fuel oil (ANFO) mixtures involving variations in the ammonium nitrate prill properties and ANFO stoichiometries.

Combining Model-driven and Schema-based Program Synthesis

NASA Technical Reports Server (NTRS)

Denney, Ewen; Whittle, John

2004-01-01

We describe ongoing work which aims to extend the schema-based program synthesis paradigm with explicit models. In this context, schemas can be considered as model-to-model transformations. The combination of schemas with explicit models offers a number of advantages, namely, that building synthesis systems becomes much easier since the models can be used in verification and in adaptation of the synthesis systems. We illustrate our approach using an example from signal processing.

Three-dimensional motor schema based navigation

NASA Technical Reports Server (NTRS)

Arkin, Ronald C.

1989-01-01

Reactive schema-based navigation is possible in space domains by extending the methods developed for ground-based navigation found within the Autonomous Robot Architecture (AuRA). Reformulation of two dimensional motor schemas for three dimensional applications is a straightforward process. The manifold advantages of schema-based control persist, including modular development, amenability to distributed processing, and responsiveness to environmental sensing. Simulation results show the feasibility of this methodology for space docking operations in a cluttered work area.

Core schemas and suicidality in a chronically traumatized population.

PubMed

Dutra, Lissa; Callahan, Kelley; Forman, Evan; Mendelsohn, Michaela; Herman, Judith

2008-01-01

The Young Schema Questionnaire (YSQ) has been demonstrated to tap into core beliefs, or maladaptive schemas, of clinical populations. This study used the YSQ to investigate maladaptive schemas of 137 chronically traumatized patients seeking outpatient psychiatric treatment and to assess whether specific schemas might be associated with suicide risk in this population. Participants completed a modified version of the YSQ-S (short form), post-traumatic diagnostic scale, dissociative experiences scale and self-harm and risk behaviors questionnaire-revised at treatment intake. Significant correlations were found between most YSQ scales and the post-traumatic diagnostic scale, and between all YSQ scales and the dissociative experiences scale. Suicide risk variables were most highly correlated with the social isolation/alienation, defectiveness/shame and failure YSQ scales, suggesting that these schemas may mark individuals at particularly high risk for suicidal ideation and suicide attempts. These results offer important implications for the assessment and treatment of high-risk traumatized patients.

Baby schema modulates the brain reward system in nulliparous women.

PubMed

Glocker, Melanie L; Langleben, Daniel D; Ruparel, Kosha; Loughead, James W; Valdez, Jeffrey N; Griffin, Mark D; Sachser, Norbert; Gur, Ruben C

2009-06-02

Ethologist Konrad Lorenz defined the baby schema ("Kindchenschema") as a set of infantile physical features, such as round face and big eyes, that is perceived as cute and motivates caretaking behavior in the human, with the evolutionary function of enhancing offspring survival. The neural basis of this fundamental altruistic instinct is not well understood. Prior studies reported a pattern of brain response to pictures of children, but did not dissociate the brain response to baby schema from the response to children. Using functional magnetic resonance imaging and controlled manipulation of the baby schema in infant faces, we found that baby schema activates the nucleus accumbens, a key structure of the mesocorticolimbic system mediating reward processing and appetitive motivation, in nulliparous women. Our findings suggest that engagement of the mesocorticolimbic system is the neurophysiologic mechanism by which baby schema promotes human caregiving, regardless of kinship.

A searching and reporting system for relational databases using a graph-based metadata representation.

PubMed

Hewitt, Robin; Gobbi, Alberto; Lee, Man-Ling

2005-01-01

Relational databases are the current standard for storing and retrieving data in the pharmaceutical and biotech industries. However, retrieving data from a relational database requires specialized knowledge of the database schema and of the SQL query language. At Anadys, we have developed an easy-to-use system for searching and reporting data in a relational database to support our drug discovery project teams. This system is fast and flexible and allows users to access all data without having to write SQL queries. This paper presents the hierarchical, graph-based metadata representation and SQL-construction methods that, together, are the basis of this system's capabilities.

Semantic mediation in the national geologic map database (US)

USGS Publications Warehouse

Percy, D.; Richard, S.; Soller, D.

2008-01-01

Controlled language is the primary challenge in merging heterogeneous databases of geologic information. Each agency or organization produces databases with different schema, and different terminology for describing the objects within. In order to make some progress toward merging these databases using current technology, we have developed software and a workflow that allows for the "manual semantic mediation" of these geologic map databases. Enthusiastic support from many state agencies (stakeholders and data stewards) has shown that the community supports this approach. Future implementations will move toward a more Artificial Intelligence-based approach, using expert-systems or knowledge-bases to process data based on the training sets we have developed manually.

SBRML: a markup language for associating systems biology data with models.

PubMed

Dada, Joseph O; Spasić, Irena; Paton, Norman W; Mendes, Pedro

2010-04-01

Research in systems biology is carried out through a combination of experiments and models. Several data standards have been adopted for representing models (Systems Biology Markup Language) and various types of relevant experimental data (such as FuGE and those of the Proteomics Standards Initiative). However, until now, there has been no standard way to associate a model and its entities to the corresponding datasets, or vice versa. Such a standard would provide a means to represent computational simulation results as well as to frame experimental data in the context of a particular model. Target applications include model-driven data analysis, parameter estimation, and sharing and archiving model simulations. We propose the Systems Biology Results Markup Language (SBRML), an XML-based language that associates a model with several datasets. Each dataset is represented as a series of values associated with model variables, and their corresponding parameter values. SBRML provides a flexible way of indexing the results to model parameter values, which supports both spreadsheet-like data and multidimensional data cubes. We present and discuss several examples of SBRML usage in applications such as enzyme kinetics, microarray gene expression and various types of simulation results. The XML Schema file for SBRML is available at http://www.comp-sys-bio.org/SBRML under the Academic Free License (AFL) v3.0.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vila, Fernando D.; Rehr, John J.; Nuzzo, Ralph G.

Supported Pt nanocatalysts generally exhibit anomalous behavior, including negative thermal expansion and large structural disorder. Finite temperature DFT/MD simulations reproduce these properties, showing that they are largely explained by a combination of thermal vibrations and low-frequency disorder. We show in this paper that a full interpretation is more complex and that the DFT/MD mean-square relative displacements (MSRD) can be further separated into vibrational disorder, “dynamic structural disorder” (DSD), and long-time equilibrium fluctuations of the structure dubbed “anomalous structural disorder” (ASD). We find that the vibrational and DSD components behave normally, increasing linearly with temperature while the ASD decreases, reflecting themore » evolution of mean nanoparticle geometry. Finally, as a consequence the usual procedure of fitting the MSRD to normal vibrations plus temperature-independent static disorder results in unphysical bond strengths and Grüneisen parameters.« less

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

PubMed

Grimbly, Chelsey; Caluseriu, Oana; Metcalfe, Peter; Jetha, Mary M; Rosolowsky, Elizabeth T

2016-01-01

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis. We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.

Measurement of the CP asymmetry in B - → D s - D 0 and B - → D - D 0 decays

NASA Astrophysics Data System (ADS)

Aaij, R.; Adeva, B.; Adinolfi, M.; Ajaltouni, Z.; Akar, S.; Albicocco, P.; Albrecht, J.; Alessio, F.; Alexander, M.; Alfonso Albero, A.; Ali, S.; Alkhazov, G.; Alvarez Cartelle, P.; Alves, A. A.; Amato, S.; Amerio, S.; Amhis, Y.; An, L.; Anderlini, L.; Andreassi, G.; Andreotti, M.; Andrews, J. E.; Appleby, R. B.; Archilli, F.; d'Argent, P.; Arnau Romeu, J.; Artamonov, A.; Artuso, M.; Aslanides, E.; Atzeni, M.; Auriemma, G.; Bachmann, S.; Back, J. J.; Baker, S.; Balagura, V.; Baldini, W.; Baranov, A.; Barlow, R. J.; Barsuk, S.; Barter, W.; Baryshnikov, F.; Batozskaya, V.; Battista, V.; Bay, A.; Beddow, J.; Bedeschi, F.; Bediaga, I.; Beiter, A.; Bel, L. J.; Beliy, N.; Bellee, V.; Belloli, N.; Belous, K.; Belyaev, I.; Ben-Haim, E.; Bencivenni, G.; Benson, S.; Beranek, S.; Berezhnoy, A.; Bernet, R.; Berninghoff, D.; Bertholet, E.; Bertolin, A.; Betancourt, C.; Betti, F.; Bettler, M. O.; van Beuzekom, M.; Bezshyiko, Ia.; Bifani, S.; Billoir, P.; Birnkraut, A.; Bizzeti, A.; Bjørn, M.; Blake, T.; Blanc, F.; Blusk, S.; Bocci, V.; Boente Garcia, O.; Boettcher, T.; Bondar, A.; Bondar, N.; Borghi, S.; Borisyak, M.; Borsato, M.; Bossu, F.; Boubdir, M.; Bowcock, T. J. V.; Bowen, E.; Bozzi, C.; Braun, S.; Brodski, M.; Brodzicka, J.; Brundu, D.; Buchanan, E.; Burr, C.; Bursche, A.; Buytaert, J.; Byczynski, W.; Cadeddu, S.; Cai, H.; Calabrese, R.; Calladine, R.; Calvi, M.; Calvo Gomez, M.; Camboni, A.; Campana, P.; Campora Perez, D. H.; Capriotti, L.; Carbone, A.; Carboni, G.; Cardinale, R.; Cardini, A.; Carniti, P.; Carson, L.; Carvalho Akiba, K.; Casse, G.; Cassina, L.; Cattaneo, M.; Cavallero, G.; Cenci, R.; Chamont, D.; Chapman, M. G.; Charles, M.; Charpentier, Ph.; Chatzikonstantinidis, G.; Chefdeville, M.; Chen, S.; Chitic, S.-G.; Chobanova, V.; Chrzaszcz, M.; Chubykin, A.; Ciambrone, P.; Cid Vidal, X.; Ciezarek, G.; Clarke, P. E. L.; Clemencic, M.; Cliff, H. V.; Closier, J.; Coco, V.; Cogan, J.; Cogneras, E.; Cogoni, V.; Cojocariu, L.; Collins, P.; Colombo, T.; Comerma-Montells, A.; Contu, A.; Coombs, G.; Coquereau, S.; Corti, G.; Corvo, M.; Costa Sobral, C. M.; Couturier, B.; Cowan, G. A.; Craik, D. C.; Crocombe, A.; Cruz Torres, M.; Currie, R.; D'Ambrosio, C.; Da Cunha Marinho, F.; Da Silva, C. L.; Dall'Occo, E.; Dalseno, J.; Danilina, A.; Davis, A.; De Aguiar Francisco, O.; De Bruyn, K.; De Capua, S.; De Cian, M.; De Miranda, J. M.; De Paula, L.; De Serio, M.; De Simone, P.; Dean, C. T.; Decamp, D.; Del Buono, L.; Delaney, B.; Dembinski, H.-P.; Demmer, M.; Dendek, A.; Derkach, D.; Deschamps, O.; Dettori, F.; Dey, B.; Di Canto, A.; Di Nezza, P.; Didenko, S.; Dijkstra, H.; Dordei, F.; Dorigo, M.; Dosil Suárez, A.; Douglas, L.; Dovbnya, A.; Dreimanis, K.; Dufour, L.; Dujany, G.; Durante, P.; Durham, J. M.; Dutta, D.; Dzhelyadin, R.; Dziewiecki, M.; Dziurda, A.; Dzyuba, A.; Easo, S.; Egede, U.; Egorychev, V.; Eidelman, S.; Eisenhardt, S.; Eitschberger, U.; Ekelhof, R.; Eklund, L.; Ely, S.; Ene, A.; Escher, S.; Esen, S.; Evans, H. M.; Evans, T.; Falabella, A.; Farley, N.; Farry, S.; Fazzini, D.; Federici, L.; Fernandez, G.; Fernandez Declara, P.; Fernandez Prieto, A.; Ferrari, F.; Ferreira Lopes, L.; Ferreira Rodrigues, F.; Ferro-Luzzi, M.; Filippov, S.; Fini, R. A.; Fiorini, M.; Firlej, M.; Fitzpatrick, C.; Fiutowski, T.; Fleuret, F.; Fontana, M.; Fontanelli, F.; Forty, R.; Franco Lima, V.; Frank, M.; Frei, C.; Fu, J.; Funk, W.; Färber, C.; Gabriel, E.; Gallas Torreira, A.; Galli, D.; Gallorini, S.; Gambetta, S.; Gandelman, M.; Gandini, P.; Gao, Y.; Garcia Martin, L. M.; Garcia Plana, B.; García Pardiñas, J.; Garra Tico, J.; Garrido, L.; Gascon, D.; Gaspar, C.; Gavardi, L.; Gazzoni, G.; Gerick, D.; Gersabeck, E.; Gersabeck, M.; Gershon, T.; Ghez, Ph.; Gianí, S.; Gibson, V.; Girard, O. G.; Giubega, L.; Gizdov, K.; Gligorov, V. V.; Golubkov, D.; Golutvin, A.; Gomes, A.; Gorelov, I. V.; Gotti, C.; Govorkova, E.; Grabowski, J. P.; Graciani Diaz, R.; Granado Cardoso, L. A.; Graugés, E.; Graverini, E.; Graziani, G.; Grecu, A.; Greim, R.; Griffith, P.; Grillo, L.; Gruber, L.; Gruberg Cazon, B. R.; Grünberg, O.; Gushchin, E.; Guz, Yu.; Gys, T.; Göbel, C.; Hadavizadeh, T.; Hadjivasiliou, C.; Haefeli, G.; Haen, C.; Haines, S. C.; Hamilton, B.; Han, X.; Hancock, T. H.; Hansmann-Menzemer, S.; Harnew, N.; Harnew, S. T.; Hasse, C.; Hatch, M.; He, J.; Hecker, M.; Heinicke, K.; Heister, A.; Hennessy, K.; Henry, L.; van Herwijnen, E.; Heß, M.; Hicheur, A.; Hill, D.; Hopchev, P. H.; Hu, W.; Huang, W.; Huard, Z. C.; Hulsbergen, W.; Humair, T.; Hushchyn, M.; Hutchcroft, D.; Ibis, P.; Idzik, M.; Ilten, P.; Ivshin, K.; Jacobsson, R.; Jalocha, J.; Jans, E.; Jawahery, A.; Jiang, F.; John, M.; Johnson, D.; Jones, C. R.; Joram, C.; Jost, B.; Jurik, N.; Kandybei, S.; Karacson, M.; Kariuki, J. M.; Karodia, S.; Kazeev, N.; Kecke, M.; Keizer, F.; Kelsey, M.; Kenzie, M.; Ketel, T.; Khairullin, E.; Khanji, B.; Khurewathanakul, C.; Kim, K. E.; Kirn, T.; Klaver, S.; Klimaszewski, K.; Klimkovich, T.; Koliiev, S.; Kolpin, M.; Kopecna, R.; Koppenburg, P.; Kotriakhova, S.; Kozeiha, M.; Kravchuk, L.; Kreps, M.; Kress, F.; Krokovny, P.; Krupa, W.; Krzemien, W.; Kucewicz, W.; Kucharczyk, M.; Kudryavtsev, V.; Kuonen, A. K.; Kvaratskheliya, T.; Lacarrere, D.; Lafferty, G.; Lai, A.; Lanfranchi, G.; Langenbruch, C.; Latham, T.; Lazzeroni, C.; Le Gac, R.; Leflat, A.; Lefrançois, J.; Lefèvre, R.; Lemaitre, F.; Lenisa, P.; Leroy, O.; Lesiak, T.; Leverington, B.; Li, P.-R.; Li, T.; Li, Z.; Liang, X.; Likhomanenko, T.; Lindner, R.; Lionetto, F.; Lisovskyi, V.; Liu, X.; Loh, D.; Loi, A.; Longstaff, I.; Lopes, J. H.; Lucchesi, D.; Lucio Martinez, M.; Lupato, A.; Luppi, E.; Lupton, O.; Lusiani, A.; Lyu, X.; Machefert, F.; Maciuc, F.; Macko, V.; Mackowiak, P.; Maddrell-Mander, S.; Maev, O.; Maguire, K.; Maisuzenko, D.; Majewski, M. W.; Malde, S.; Malecki, B.; Malinin, A.; Maltsev, T.; Manca, G.; Mancinelli, G.; Marangotto, D.; Maratas, J.; Marchand, J. F.; Marconi, U.; Marin Benito, C.; Marinangeli, M.; Marino, P.; Marks, J.; Martellotti, G.; Martin, M.; Martinelli, M.; Martinez Santos, D.; Martinez Vidal, F.; Massafferri, A.; Matev, R.; Mathad, A.; Mathe, Z.; Matteuzzi, C.; Mauri, A.; Maurice, E.; Maurin, B.; Mazurov, A.; McCann, M.; McNab, A.; McNulty, R.; Mead, J. V.; Meadows, B.; Meaux, C.; Meier, F.; Meinert, N.; Melnychuk, D.; Merk, M.; Merli, A.; Michielin, E.; Milanes, D. A.; Millard, E.; Minard, M.-N.; Minzoni, L.; Mitzel, D. S.; Mogini, A.; Molina Rodriguez, J.; Mombächer, T.; Monroy, I. A.; Monteil, S.; Morandin, M.; Morello, G.; Morello, M. J.; Morgunova, O.; Moron, J.; Morris, A. B.; Mountain, R.; Muheim, F.; Mulder, M.; Müller, D.; Müller, J.; Müller, K.; Müller, V.; Naik, P.; Nakada, T.; Nandakumar, R.; Nandi, A.; Nasteva, I.; Needham, M.; Neri, N.; Neubert, S.; Neufeld, N.; Neuner, M.; Nguyen, T. D.; Nguyen-Mau, C.; Nieswand, S.; Niet, R.; Nikitin, N.; Nogay, A.; O'Hanlon, D. P.; Oblakowska-Mucha, A.; Obraztsov, V.; Ogilvy, S.; Oldeman, R.; Onderwater, C. J. G.; Ossowska, A.; Otalora Goicochea, J. M.; Owen, P.; Oyanguren, A.; Pais, P. R.; Palano, A.; Palutan, M.; Panshin, G.; Papanestis, A.; Pappagallo, M.; Pappalardo, L. L.; Parker, W.; Parkes, C.; Passaleva, G.; Pastore, A.; Patel, M.; Patrignani, C.; Pearce, A.; Pellegrino, A.; Penso, G.; Pepe Altarelli, M.; Perazzini, S.; Pereima, D.; Perret, P.; Pescatore, L.; Petridis, K.; Petrolini, A.; Petrov, A.; Petruzzo, M.; Pietrzyk, B.; Pietrzyk, G.; Pikies, M.; Pinci, D.; Pisani, F.; Pistone, A.; Piucci, A.; Placinta, V.; Playfer, S.; Plo Casasus, M.; Polci, F.; Poli Lener, M.; Poluektov, A.; Polukhina, N.; Polyakov, I.; Polycarpo, E.; Pomery, G. J.; Ponce, S.; Popov, A.; Popov, D.; Poslavskii, S.; Potterat, C.; Price, E.; Prisciandaro, J.; Prouve, C.; Pugatch, V.; Puig Navarro, A.; Pullen, H.; Punzi, G.; Qian, W.; Qin, J.; Quagliani, R.; Quintana, B.; Rachwal, B.; Rademacker, J. H.; Rama, M.; Ramos Pernas, M.; Rangel, M. S.; Ratnikov, F.; Raven, G.; Ravonel Salzgeber, M.; Reboud, M.; Redi, F.; Reichert, S.; dos Reis, A. C.; Remon Alepuz, C.; Renaudin, V.; Ricciardi, S.; Richards, S.; Rinnert, K.; Robbe, P.; Robert, A.; Rodrigues, A. B.; Rodrigues, E.; Rodriguez Lopez, J. A.; Rogozhnikov, A.; Roiser, S.; Rollings, A.; Romanovskiy, V.; Romero Vidal, A.; Rotondo, M.; Rudolph, M. S.; Ruf, T.; Ruiz Vidal, J.; Saborido Silva, J. J.; Sagidova, N.; Saitta, B.; Salustino Guimaraes, V.; Sanchez Mayordomo, C.; Sanmartin Sedes, B.; Santacesaria, R.; Santamarina Rios, C.; Santimaria, M.; Santovetti, E.; Sarpis, G.; Sarti, A.; Satriano, C.; Satta, A.; Savrina, D.; Schael, S.; Schellenberg, M.; Schiller, M.; Schindler, H.; Schmelling, M.; Schmelzer, T.; Schmidt, B.; Schneider, O.; Schopper, A.; Schreiner, H. F.; Schubiger, M.; Schune, M. H.; Schwemmer, R.; Sciascia, B.; Sciubba, A.; Semennikov, A.; Sepulveda, E. S.; Sergi, A.; Serra, N.; Serrano, J.; Sestini, L.; Seyfert, P.; Shapkin, M.; Shcheglov, Y.; Shears, T.; Shekhtman, L.; Shevchenko, V.; Siddi, B. G.; Silva Coutinho, R.; Silva de Oliveira, L.; Simi, G.; Simone, S.; Skidmore, N.; Skwarnicki, T.; Smith, I. T.; Smith, M.; Soares Lavra, l.; Sokoloff, M. D.; Soler, F. J. P.; Souza De Paula, B.; Spaan, B.; Spradlin, P.; Stagni, F.; Stahl, M.; Stahl, S.; Stefko, P.; Stefkova, S.; Steinkamp, O.; Stemmle, S.; Stenyakin, O.; Stepanova, M.; Stevens, H.; Stone, S.; Storaci, B.; Stracka, S.; Stramaglia, M. E.; Straticiuc, M.; Straumann, U.; Strokov, S.; Sun, J.; Sun, L.; Swientek, K.; Syropoulos, V.; Szumlak, T.; Szymanski, M.; T'Jampens, S.; Tang, Z.; Tayduganov, A.; Tekampe, T.; Tellarini, G.; Teubert, F.; Thomas, E.; van Tilburg, J.; Tilley, M. J.; Tisserand, V.; Tobin, M.; Tolk, S.; Tomassetti, L.; Tonelli, D.; Tourinho Jadallah Aoude, R.; Tournefier, E.; Traill, M.; Tran, M. T.; Tresch, M.; Trisovic, A.; Tsaregorodtsev, A.; Tully, A.; Tuning, N.; Ukleja, A.; Usachov, A.; Ustyuzhanin, A.; Uwer, U.; Vacca, C.; Vagner, A.; Vagnoni, V.; Valassi, A.; Valat, S.; Valenti, G.; Vazquez Gomez, R.; Vazquez Regueiro, P.; Vecchi, S.; van Veghel, M.; Velthuis, J. J.; Veltri, M.; Veneziano, G.; Venkateswaran, A.; Verlage, T. A.; Vernet, M.; Vesterinen, M.; Viana Barbosa, J. V.; Vieira, D.; Vieites Diaz, M.; Viemann, H.; Vilasis-Cardona, X.; Vitkovskiy, A.; Vitti, M.; Volkov, V.; Vollhardt, A.; Voneki, B.; Vorobyev, A.; Vorobyev, V.; Voß, C.; de Vries, J. A.; Vázquez Sierra, C.; Waldi, R.; Walsh, J.; Wang, J.; Wang, M.; Wang, Y.; Wang, Z.; Ward, D. R.; Wark, H. M.; Watson, N. K.; Websdale, D.; Weiden, A.; Weisser, C.; Whitehead, M.; Wicht, J.; Wilkinson, G.; Wilkinson, M.; Williams, M. R. J.; Williams, M.; Williams, T.; Wilson, F. F.; Wimberley, J.; Winn, M.; Wishahi, J.; Wislicki, W.; Witek, M.; Wormser, G.; Wotton, S. A.; Wyllie, K.; Xiao, D.; Xie, Y.; Xu, A.; Xu, M.; Xu, Q.; Xu, Z.; Xu, Z.; Yang, Z.; Yang, Z.; Yao, Y.; Yin, H.; Yu, J.; Yuan, X.; Yushchenko, O.; Zarebski, K. A.; Zavertyaev, M.; Zhang, L.; Zhang, Y.; Zhelezov, A.; Zheng, Y.; Zhu, X.; Zhukov, V.; Zonneveld, J. B.; Zucchelli, S.

2018-05-01

The CP asymmetry in B - → D s - D 0 and B - → D - D 0 decays is measured using LHCb data corresponding to an integrated luminosity of 3.0 fb-1, collected in pp collisions at centre-of-mass energies of 7 and 8 TeV. The results are A^{CP}({B}-\\to {D}_s-{D}^0)=(-0.4± 0.5± 0.5) and A^{CP}({B}-\\to {D}-{D}^0)=(2.3± 2.7± 0.4)% , where the first uncertainties are statistical and the second systematic. This is the first measurement of A^{CP}({B}-\\to {D}_s-{D}^0) and the most precise determination of A^{CP}({B}-\\to {D}-{D}^0) . Neither result shows evidence of CP violation. [Figure not available: see fulltext.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

PubMed Central

Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

2014-01-01

Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. PMID:25248670

The first case of 38,XX (SRY-positive) disorder of sex development in a cat.

PubMed

Szczerbal, Izabela; Stachowiak, Monika; Dzimira, Stanislaw; Sliwa, Krystyna; Switonski, Marek

2015-01-01

SRY-positive XX testicular disorder of sex development (DSD) caused by X;Y translocations was not yet reported in domestic animals. In humans it is rarely diagnosed and a majority of clinical features resemble those which are typical for Klinefelter syndrome (KS). Here we describe the first case of SRY-positive XX DSD in a tortoiseshell cat with a rudimentary penis and a lack of scrotum. Molecular analysis showed the presence of two Y-linked genes (SRY and ZFY) and a normal sequence of the SRY gene. Application of classical cytogenetic techniques revealed two X chromosomes (38,XX), but further FISH studies with the use of the whole X chromosome painting probe and BAC probes specific to the Yp chromosome facilitated identification of Xp;Yp translocation. The SRY gene was localised at a distal position of Xp. The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative X(SRY) chromosome. Our study showed that among DSD tortoiseshell cats, apart from XXY trisomy and XX/XY chimerism, also SRY-positive XX cases may occur. It is hypothesized that the extremely rare occurrence of this abnormality in domestic animals, when compared with humans, may be associated with a different organisation of the Yp arm in these species.

Oil Droplet Size Distribution and Optical Properties During Wave Tank Simulated Oil Spills

NASA Astrophysics Data System (ADS)

Conmy, R. N.; Venosa, A.; Courtenay, S.; King, T.; Robinson, B.; Ryan, S.

2013-12-01

Fate and transport of spilled petroleum oils in aquatic environments is highly dependent upon oil droplet behavior which is a function of chemical composition, dispersibility (natural and chemically-enhanced) and droplet size distribution (DSD) of the oil. DSD is influenced by mixing energy, temperature, salinity, pressure, presence of dissolved and particulate materials, flow rate of release, and application of dispersants. To better understand DSD and droplet behavior under varying physical conditions, flask-scale experiments are often insufficient. Rather, wave tank simulations allow for scaling to field conditions. Presented here are experiment results from the Bedford Institute of Oceanography wave tank facility, where chemically-dispersed (Corexit 9500; DOR = 1:20) Louisiana Sweet crude, IFO-120 and ANS crude oil were exposed to mixing energies to achieve dispersant effectiveness observed in the field. Oil plumes were simulated, both surface and subsea releases with varying water temperature and flow rate. Fluorometers (Chelsea Technologies Group AQUATracka, Turner Designs Cyclops, WET Labs Inc ECO) and particle size analyzers (Sequoia LISST) were used to track the dispersed plumes in the tank and characterize oil droplets. Sensors were validated with known oil volumes (down to 300 ppb) and measured Total Petroleum Hydrocarbons (TPH) and Benzene-Toluene-Ethylbenzene-Xylene (BTEX) values. This work has large implications for tracking surface and deep sea oil plumes with fluorescence and particle size analyzers, improved weathering and biodegradation estimates, and understanding the fate and transport of spill oil.

Microwave Passive Ground-Based Retrievals of Cloud and Rain Liquid Water Path in Drizzling Clouds: Challenges and Possibilities

DOE PAGES

Cadeddu, Maria P.; Marchand, Roger; Orlandi, Emiliano; ...

2017-08-11

Satellite and ground-based microwave radiometers are routinely used for the retrieval of liquid water path (LWP) under all atmospheric conditions. The retrieval of water vapor and LWP from ground-based radiometers during rain has proved to be a difficult challenge for two principal reasons: the inadequacy of the nonscattering approximation in precipitating clouds and the deposition of rain drops on the instrument's radome. In this paper, we combine model computations and real ground-based, zenith-viewing passive microwave radiometer brightness temperature measurements to investigate how total, cloud, and rain LWP retrievals are affected by assumptions on the cloud drop size distribution (DSD) andmore » under which conditions a nonscattering approximation can be considered reasonably accurate. Results show that until the drop effective diameter is larger than similar to 200 mu m, a nonscattering approximation yields results that are still accurate at frequencies less than 90 GHz. For larger drop sizes, it is shown that higher microwave frequencies contain useful information that can be used to separate cloud and rain LWP provided that the vertical distribution of hydrometeors, as well as the DSD, is reasonably known. The choice of the DSD parameters becomes important to ensure retrievals that are consistent with the measurements. A physical retrieval is tested on a synthetic data set and is then used to retrieve total, cloud, and rain LWP from radiometric measurements during two drizzling cases at the atmospheric radiation measurement Eastern North Atlantic site.« less

Gender role behavior in children with XY karyotype and disorders of sex development.

PubMed

Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

2007-03-01

Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

Alcohol assessment among college students using wireless mobile technology.

PubMed

Bernhardt, Jay M; Usdan, Stuart; Mays, Darren; Martin, Ryan; Cremeens, Jennifer; Arriola, Kimberly Jacob

2009-09-01

This study used a two-group randomized design to assess the validity of measuring self-reported alcohol consumption among college students using the Handheld Assisted Network Diary (HAND), a daily diary assessment administered using wireless mobile devices. A convenience sample of college students was recruited at a large, public university in the southeastern United States and randomized into two groups. A randomly assigned group of 86 students completed the daily HAND assessment during the 30-day study and a Timeline Followback (TLFB) at 30-day follow-up. A randomly assigned group of 82 students completed the paper-and-pencil Daily Social Diary (DSD) over the same study period. Data from the daily HAND assessment were compared with the TLFB completed at follow-up by participants who completed the HAND using 95% limits of agreement analysis. Furthermore, individual growth models were used to examine differences between the HAND and DSD by comparing the total drinks, drinking days, and drinks per drinking day captured by the two assessments over the study period. Results suggest that the HAND captured similar levels of alcohol use compared with the TLFB completed at follow-up by the same participants. In addition, comparisons of the two study groups suggest that, controlling for baseline alcohol use and demographics, the HAND assessment captured similar levels of total drinks, drinking days, and drinks per drinking day as the paper-and-pencil DSD. The study findings support the validity of wireless mobile devices as a daily assessment of alcohol use among college students.

Microwave Passive Ground-Based Retrievals of Cloud and Rain Liquid Water Path in Drizzling Clouds: Challenges and Possibilities

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cadeddu, Maria P.; Marchand, Roger; Orlandi, Emiliano

Satellite and ground-based microwave radiometers are routinely used for the retrieval of liquid water path (LWP) under all atmospheric conditions. The retrieval of water vapor and LWP from ground-based radiometers during rain has proved to be a difficult challenge for two principal reasons: the inadequacy of the nonscattering approximation in precipitating clouds and the deposition of rain drops on the instrument's radome. In this paper, we combine model computations and real ground-based, zenith-viewing passive microwave radiometer brightness temperature measurements to investigate how total, cloud, and rain LWP retrievals are affected by assumptions on the cloud drop size distribution (DSD) andmore » under which conditions a nonscattering approximation can be considered reasonably accurate. Results show that until the drop effective diameter is larger than similar to 200 mu m, a nonscattering approximation yields results that are still accurate at frequencies less than 90 GHz. For larger drop sizes, it is shown that higher microwave frequencies contain useful information that can be used to separate cloud and rain LWP provided that the vertical distribution of hydrometeors, as well as the DSD, is reasonably known. The choice of the DSD parameters becomes important to ensure retrievals that are consistent with the measurements. A physical retrieval is tested on a synthetic data set and is then used to retrieve total, cloud, and rain LWP from radiometric measurements during two drizzling cases at the atmospheric radiation measurement Eastern North Atlantic site.« less

Microphysical Analysis using Airborne 2-D Cloud and Precipitation Imaging Probe Data

NASA Astrophysics Data System (ADS)

Guy, N.; Jorgensen, D.; Witte, M.; Chuang, P. Y.; Black, R. A.

2013-12-01

The NOAA P-3 instrumented aircraft provided in-situ cloud and precipitation microphysical observations during the DYNAMO (Dynamics of the Madden-Julian Oscillation) field experiment. The Particle Measuring System 2D cloud (2D-C) and precipitation (2D-P) probes collected data for particles between 12.5 μm - 1.55 mm (25 μm resolution) and 100 μm - 6.2 mm (100 μm resolution), respectively. Spectra from each instrument were combined to provide a broad distribution of precipitation particle sizes. The 'method of moments' technique was used to analyze drop size distribution (DSD) spectra, which were modeled by fitting a three-parameter (slope, shape, and intercept) gamma distribution to the spectra. The characteristic shape of the mean spectrum compares to previous maritime measurements. DSD variability will be presented with respect to the temporal evolution of cloud populations during a Madden-Julian Oscillation (MJO) event, as well as in-situ aircraft vertical wind velocity measurements. Using the third and sixth moments, rainfall rate (R) and equivalent radar reflectivity factor (Z), respectively, were computed for each DSD. Linear regression was applied to establish a Z-R relationship for the data for the estimation of precipitation. The study indicated unique characteristics of microphysical processes for this region. These results are important to continue to define the cloud population characteristics in the climatological MJO region. Improved representation of the cloud characteristics on the microphysical scale will serve as a check to model parameterizations, helping to improve numerical simulations.

Techno-economic analysis of extraction-based separation systems for acetone, butanol, and ethanol recovery and purification.

PubMed

Grisales Díaz, Víctor Hugo; Olivar Tost, Gerard

2017-01-01

Dual extraction, high-temperature extraction, mixture extraction, and oleyl alcohol extraction have been proposed in the literature for acetone, butanol, and ethanol (ABE) production. However, energy and economic evaluation under similar assumptions of extraction-based separation systems are necessary. Hence, the new process proposed in this work, direct steam distillation (DSD), for regeneration of high-boiling extractants was compared with several extraction-based separation systems. The evaluation was performed under similar assumptions through simulation in Aspen Plus V7.3 ® software. Two end distillation systems (number of non-ideal stages between 70 and 80) were studied. Heat integration and vacuum operation of some units were proposed reducing the energy requirements. Energy requirement of hybrid processes, substrate concentration of 200 g/l, was between 6.4 and 8.3 MJ-fuel/kg-ABE. The minimum energy requirements of extraction-based separation systems, feeding a water concentration in the substrate equivalent to extractant selectivity, and ideal assumptions were between 2.6 and 3.5 MJ-fuel/kg-ABE, respectively. The efficiencies of recovery systems for baseline case and ideal evaluation were 0.53-0.57 and 0.81-0.84, respectively. The main advantages of DSD were the operation of the regeneration column at atmospheric pressure, the utilization of low-pressure steam, and the low energy requirements of preheating. The in situ recovery processes, DSD, and mixture extraction with conventional regeneration were the approaches with the lowest energy requirements and total annualized costs.

Explanation-Based Knowledge Acquisition of Schemas in Practical Electronics: A Machine Learning Approach

DTIC Science & Technology

1990-09-12

electronics reading to the next. To test this hypothesis and the suitability of EBL to acquiring schemas, I have implemented an automated reader/learner as...used. For example, testing the utility of a kidnapping schema using several readings about kidnapping can only go so far toward establishing the...the cost of carrying the new rules while processing unrelated material will be underestimated. The present research tests the utility of new schemas in

The Activation of Incompetence Schemas in Response to Negative Sexual Events in Heterosexual and Lesbian Women: The Moderator Role of Personality Traits and Dysfunctional Sexual Beliefs.

PubMed

Peixoto, Maria Manuela; Nobre, Pedro

2017-01-01

Personality traits and dysfunctional sexual beliefs have been described as vulnerability factors for sexual dysfunction in women, and have also been proposed as dispositional variables for the activation of incompetence schemas in response to negative sexual events. However, no study has tested the role of personality traits and dysfunctional sexual beliefs in the activation of incompetence schemas. The current study aimed to assess the moderator role of neuroticism, extraversion, and dysfunctional sexual beliefs in the association between frequency of unsuccessful sexual episodes and activation of incompetence schemas in heterosexual and lesbian women. An online survey was completed by 1,121 women (831 heterosexual; 290 lesbian). Participants completed the NEO Five-Factor Inventory (NEO-FFI), the Sexual Dysfunctional Beliefs Questionnaire-Female Version (SDBQ), and the Questionnaire of Cognitive Schemas Activated in Sexual Context (QCSASC). Findings indicate that neuroticism moderates the association between frequency of negative sexual events and activation of incompetence schemas in heterosexual women. Moreover, several sexual beliefs also act as moderators of the relationship between negative sexual episodes and the activation of cognitive schemas in both heterosexual and lesbian women. Overall, findings support the cognitive-emotional model of sexual dysfunctions, emphasizing the role of personality traits and dysfunctional sexual beliefs as facilitators of the activation of incompetence schemas in response to negative events in women.

Exploring correlation between perceived parenting styles, early maladaptive schemas, and depression among women with depressive symptoms in iran and India- role of early maladaptive schemas as mediators and moderatos.

PubMed

Khajouei Nia, Maryam; Sovani, Anuradha; Sarami Forooshani, Gholam Reza

2014-12-01

Many studies have reported that inadequate parental styles can contribute to depressive symptoms through dysfunctional cognitive styles. This study aimed to investigate the association of dysfunctional schemas and parenting style with depression, as well as the role of maladaptive schemas such as moderators and mediators in Iran and India. The study sample was selected randomly and consisted of 200 (age group 16-60 y) depressed females (mild to moderate); 100 from Tehran (Iran) and another 100 from Pune (India). The type of the research was causal-comparative. The data collection took place in hospitals and clinics in the targeted cities. Descriptive statistic tests and hierarchical multiple regression were executed (for the purpose of analyzing data) by SPSS 17. It was demonstrated that the association between parenting and depression was not moderated by early maladaptive schemas. On the contrary, the results supported meditational models in which parenting styles are associated with the cognitive schemas, and these in turn are related to depressive symptoms. It was also found that abandonment mediates the impacts of maternal style on depression in Iran. On the other hand, abandonment and punitiveness schemas mediated the relation between paternal style and depression in India. These findings suggest that the correlation between childhood experiences and depression in adulthood are mediated by dysfunctional schemas.

Inpatient schema therapy for nonresponsive patients with personality pathology: Changes in symptomatic distress, schemas, schema modes, coping styles, experienced parenting styles, and mental well-being.

PubMed

Schaap, Grietje M; Chakhssi, Farid; Westerhof, Gerben J

2016-12-01

This study provides an evaluation of group schema therapy (ST) for inpatient treatment of patients with personality pathology who did not respond to previous psychotherapeutic interventions. Forty-two patients were assessed pre- and posttreatment, and 35 patients were evaluated at follow-up 6 months later. The results showed a dropout rate of 35%. Those who dropped out did not differ from those who completed treatment with regard to demographic and clinical variables; the only exception was that those who dropped out showed a lower prevalence of mood disorders. Furthermore, intention-to-treat analyses showed a significant improvement in maladaptive schemas, schema modes, maladaptive coping styles, mental well-being, and psychological distress after treatment, and these improvements were maintained at follow-up. On the other hand, there was no significant change in experienced parenting style as self-reported by patients. Changes in schemas and schema modes measured from pre- to posttreatment were predictive of general psychological distress at follow-up. Overall, these preliminary findings suggest that positive treatment results can be obtained with group ST-based inpatient treatment for patients who did not respond to previous psychotherapeutic interventions. Moreover, these findings are comparable with treatment results for patients without such a nonresponsive treatment history. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

A Chado case study: an ontology-based modular schema for representing genome-associated biological information.

PubMed

Mungall, Christopher J; Emmert, David B

2007-07-01

A few years ago, FlyBase undertook to design a new database schema to store Drosophila data. It would fully integrate genomic sequence and annotation data with bibliographic, genetic, phenotypic and molecular data from the literature representing a distillation of the first 100 years of research on this major animal model system. In developing this new integrated schema, FlyBase also made a commitment to ensure that its design was generic, extensible and available as open source, so that it could be employed as the core schema of any model organism data repository, thereby avoiding redundant software development and potentially increasing interoperability. Our question was whether we could create a relational database schema that would be successfully reused. Chado is a relational database schema now being used to manage biological knowledge for a wide variety of organisms, from human to pathogens, especially the classes of information that directly or indirectly can be associated with genome sequences or the primary RNA and protein products encoded by a genome. Biological databases that conform to this schema can interoperate with one another, and with application software from the Generic Model Organism Database (GMOD) toolkit. Chado is distinctive because its design is driven by ontologies. The use of ontologies (or controlled vocabularies) is ubiquitous across the schema, as they are used as a means of typing entities. The Chado schema is partitioned into integrated subschemas (modules), each encapsulating a different biological domain, and each described using representations in appropriate ontologies. To illustrate this methodology, we describe here the Chado modules used for describing genomic sequences. GMOD is a collaboration of several model organism database groups, including FlyBase, to develop a set of open-source software for managing model organism data. The Chado schema is freely distributed under the terms of the Artistic License (http://www.opensource.org/licenses/artistic-license.php) from GMOD (www.gmod.org).

Positive schemas, psychopathology, and quality of life in children with pediatric cancer: A pilot study.

PubMed

McArthur, Brae Anne; Strother, Douglas; Schulte, Fiona

2017-01-01

Research in the area of pediatric oncology has shown that although some children and youth diagnosed with this disease cope adaptively after their diagnosis, others continue to have long-term psychosocial difficulties. The potential mechanisms that may protect against the experience of psychopathology and poor quality of life within this population are not well known. The purpose of this pilot study was to utilize a new comprehensive measure of positive schemas to better understand the relationship between positive schemas, quality of life, and psychopathology, for children on active treatment for cancer. Participants were 22 patients, aged 8-18 years, being treated in a pediatric oncology clinic. Patients and parents completed measures of positive schemas, quality of life, and psychopathology. The mean age at time of initial diagnosis of the patient sample was 11.6 years. Child-reported positive schemas were significantly related to child-reported child quality of life (r = 0.46, p = 0.03). This is the first study to examine positive schemas within a pediatric oncology sample. Future research is needed to further explore facets of positive schemas that may be particularly relevant to child psychological functioning in a pediatric oncology population.

Early Maladaptive Schemas in a Sample of Airline Pilots seeking Residential Substance Use Treatment: An Initial Investigation

PubMed Central

Shorey, Ryan C.; Brasfield, Hope; Anderson, Scott; Stuart, Gregory L.

2014-01-01

Background Recent research has begun to examine the early maladaptive schemas of substance abusers, as it is believed that targeting these core beliefs in treatment may result in improved substance use outcomes. One special population that has received scant attention in the research literature, despite high levels of substance use, is airline pilots. Aims The current study examined the early maladaptive schemas of a sample of airline pilots (n = 64) who were seeking residential treatment for alcohol dependence and whether they differed in early maladaptive schemas from non-pilot substance abusers who were also seeking residential treatment for alcohol dependence (n = 45). Method Pre-existing medical records from patients of a residential substance abuse treatment facility were reviewed for the current study. Results Of the 18 early maladaptive schemas, results demonstrated that pilots scored higher than non-pilots on the early maladaptive schema of unrelenting standards (high internalized standards of behavior), whereas non-pilots scored higher on insufficient self-control (low frustration tolerance and self-control). Conclusions Early maladaptive schemas may be a relevant treatment target for substance abuse treatment seeking pilots and non-pilots. PMID:24701252

Group Schema Therapy for Eating Disorders: A Pilot Study

PubMed Central

Simpson, Susan G.; Morrow, Emma; van Vreeswijk, Michiel; Reid, Caroline

2010-01-01

This paper describes the use of Group Schema Therapy for Eating Disorders (ST-E-g) in a case series of eight participants with chronic eating disorders and high levels of co-morbidity. Treatment was comprised of 20 sessions which included cognitive, experiential, and interpersonal strategies, with an emphasis on behavioral change. Specific schema-based strategies focused on bodily felt-sense and body-image, as well as emotional regulation skills. Six attended until end of treatment, two dropped-out at mid-treatment. Eating disorder severity, global schema severity, shame, and anxiety levels were reduced between pre- and post-therapy, with a large effect size at follow-up. Clinically significant improvement in eating severity was found in four out of six completers. Group completers showed a mean reduction in schema severity of 43% at post-treatment, and 59% at follow-up. By follow-up, all completers had achieved over 60% improvement in schema severity. Self-report feedback suggests that group factors may catalyze the change process in schema therapy by increasing perceptions of support and encouragement to take risks and try out new behaviors, whilst providing a de-stigmatizing and de-shaming therapeutic experience. PMID:21833243

Early maladaptive schemas and suicidal risk in an Iranian sample of patients with obsessive-compulsive disorder.

PubMed

Khosravani, Vahid; Sharifi Bastan, Farangis; Samimi Ardestani, Mehdi; Jamaati Ardakani, Razieh

2017-09-01

There are few studies on suicidal risk and its related factors in patients diagnosed with obsessive-compulsive disorder (OCD). This study investigated the associations of early maladaptive schemas, OC symptom dimensions, OCD severity, depression and anxiety with suicidality (i.e., suicidal ideation and suicide attempts) in OCD patients. Sixty OCD outpatients completed the Scale for Suicide Ideation (SSI), the Young Schema Questionnaire-Short Form (YSQ-SF), the Yale-Brown Obsessive Compulsive Scale (Y-BOCS), the Dimensional Obsessive-Compulsive Scale (DOCS) and the Depression Anxiety Stress Scales (DASS-21). 51.7% of patients had lifetime suicide attempts and 75% had suicidal ideation. OCD patients with lifetime suicide attempts exhibited significantly higher scores on early maladaptive schemas than those without such attempts. Logistic regression analysis revealed that the mistrust/abuse schema and the OC symptom dimension of unacceptable thoughts explained lifetime suicide attempts. The mistrust/abuse schema, unacceptable thoughts and depression significantly predicted suicidal ideation. These findings indicated that the mistrust/abuse schema may contribute to high suicidality in OCD patients. Also, patients suffering from unacceptable thoughts need to be assessed more carefully for warning signs of suicide. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

True and false recall and dissociation among maltreated children: the role of self-schema.

PubMed

Valentino, Kristin; Cicchetti, Dante; Rogosch, Fred A; Toth, Sheree L

2008-01-01

The current investigation addresses the manner through which trauma affects basic memory and self-system processes. True and false recall for self-referent stimuli were assessed in conjunction with dissociative symptomatology among abused (N=76), neglected (N=92), and nonmaltreated (N=116) school-aged children. Abused, neglected, and nonmaltreated children did not differ in the level of processing self-schema effect or in the occurrence and frequency of false recall. Rather, differences in the affective valence of false recall emerged as a function of maltreatment subtype and age. Regarding dissociation, the abused children displayed higher levels of dissociative symptomatology than did the nonmaltreated children. Although abused, neglected, and nonmaltreated children did not exhibit differences in the valence of their self-schemas, positive and negative self-schemas were related to self-integration differently among the subgroups of maltreatment. Negative self-schemas were associated with increased dissociation among the abused children, whereas positive self-schemas were related to increased dissociation for the neglected children. Thus, positive self-schemas displayed by the younger neglected children were related to higher dissociation, suggestive of defensive self-processing. Implications for clinical intervention are underscored.

Continued Bullying Victimization in Adolescents: Maladaptive Schemas as a Mediational Mechanism.

PubMed

Calvete, Esther; Fernández-González, Liria; González-Cabrera, Joaquín M; Gámez-Guadix, Manuel

2018-03-01

Bullying victimization in adolescence is a significant social problem that can become persistent over time for some victims. However, there is an overall paucity of research examining the factors that contribute to continued bullying victimization. Schema therapy proposes a model that can help us understand why bullying victimization can be persistent for some victims. This study examines the role of maladaptive schemas, the key concept in schema therapy, as a mechanism of continued bullying victimization. The hypothesis was that maladaptive schemas of rejection mediate the predictive association between victimization in both the family and at school and future bullying victimization. Social anxiety was also considered, as previous research suggests that it can increase the risk of victimization. The participants were 1328 adolescents (45% female) with a mean age of 15.05 years (SD = 1.37), who completed questionnaires at three time points with a 6-month interval between them. Time 2 maladaptive schemas of rejection significantly mediated the predictive association from Time 1 bullying victimization, family abuse and social anxiety to Time 3 bullying victimization. The findings pertaining to potentially malleable factors, such as maladaptive schemas that maintain continued interpersonal victimization, have important implications for prevention and treatment strategies with adolescents.

Switch Costs Occur at Lemma Stage When Bilinguals Name Digits: Evidence from Language-Switching and Event-Related Potentials.

PubMed

Chang, Song; Xie, Jiushu; Li, Li; Wang, Ruiming; Liu, Ming

2016-01-01

Switch costs are generally found in language switching tasks. However, the locus where switch costs occur during bilingual language production remains unclear. Several studies that used a cued language-switching paradigm have attempted to investigate this question in bilingual language production, but researchers have not reached a consensus. Moreover, we are interested in where switch costs occur when language selection occurs after lemma activation. Previous studies have not investigated this question because most previous studies presented language cues before or along with the stimuli. Therefore, we used a modified cued language-switching paradigm with a combined event-related potentials (ERPs) technique to explore the locus of switch costs during bilingual language production. The cue and stimulus were separated and presented in two different presentation sequences in which Indonesian-Chinese bilingual speakers were instructed to name digits in their L1 or L2 according to the color of the cue. The ERPs related to the cue and stimulus for two presentation sequences were measured. In the stimulus-cue sequence, the analysis that was time-locked to cues revealed a reversed switch cost as early as 220 ms after the cue onset; furthermore, a switch cost was shown in L1 with a late stage post-cue onset. The results suggested that when language selection occurred after lemma activation, the switch costs mainly occurred at the lemma selection stage. In the cue-stimulus sequence, the analysis that was time-locked to cues did not reveal significant main effects of switching, whereas the analysis that was time-locked to digits yielded a switch cost, again indicating that switch costs mainly occurred at the lemma selection stage rather than at the language task schema competition stage. Overall, our results indicated that when bilinguals spoke digits aloud in the language switching task, switch costs mainly occurred at the lemma selection stage.

Schema Versioning for Multitemporal Relational Databases.

ERIC Educational Resources Information Center

De Castro, Cristina; Grandi, Fabio; Scalas, Maria Rita

1997-01-01

Investigates new design options for extended schema versioning support for multitemporal relational databases. Discusses the improved functionalities they may provide. Outlines options and basic motivations for the new design solutions, as well as techniques for the management of proposed schema versioning solutions, includes algorithms and…

Group schema therapy for eating disorders: study protocol.

PubMed

Calvert, Fiona; Smith, Evelyn; Brockman, Rob; Simpson, Susan

2018-01-01

The treatment of eating disorders is a difficult endeavor, with only a relatively small proportion of clients responding to and completing standard cognitive behavioural therapy (CBT). Given the prevalence of co-morbidity and complex personality traits in this population, Schema Therapy has been identified as a potentially viable treatment option. A case series of Group Schema Therapy for Eating Disorders (ST-E-g) yielded positive findings and the study protocol outlined in this article aims to extend upon these preliminary findings to evaluate group Schema Therapy for eating disorders in a larger sample ( n  = 40). Participants undergo a two-hour assessment where they complete a number of standard questionnaires and their diagnostic status is ascertained using the Eating Disorder Examination. Participants then commence treatment, which consists of 25 weekly group sessions lasting for 1.5 h and four individual sessions. Each group consists of five to eight participants and is facilitated by two therapists, at least one of who is a registered psychologist trained on schema therapy. The primary outcome in this study is eating disorder symptom severity. Secondary outcomes include: cognitive schemas, self-objectification, general quality of life, self-compassion, schema mode presentations, and Personality Disorder features. Participants complete psychological measures and questionnaires at pre, post, six-month and 1-year follow-up. This study will expand upon preliminary research into the efficacy of group Schema Therapy for individuals with eating disorders. If group Schema Therapy is shown to reduce eating disorder symptoms, it will hold considerable promise as an intervention option for a group of disorders that is typically difficult to treat. ACTRN12615001323516. Registered: 2/12/2015 (retrospectively registered, still recruiting).

Schemas and memory consolidation.

PubMed

Tse, Dorothy; Langston, Rosamund F; Kakeyama, Masaki; Bethus, Ingrid; Spooner, Patrick A; Wood, Emma R; Witter, Menno P; Morris, Richard G M

2007-04-06

Memory encoding occurs rapidly, but the consolidation of memory in the neocortex has long been held to be a more gradual process. We now report, however, that systems consolidation can occur extremely quickly if an associative "schema" into which new information is incorporated has previously been created. In experiments using a hippocampal-dependent paired-associate task for rats, the memory of flavor-place associations became persistent over time as a putative neocortical schema gradually developed. New traces, trained for only one trial, then became assimilated and rapidly hippocampal-independent. Schemas also played a causal role in the creation of lasting associative memory representations during one-trial learning. The concept of neocortical schemas may unite psychological accounts of knowledge structures with neurobiological theories of systems memory consolidation.

How Do DSM-5 Personality Traits Align With Schema Therapy Constructs?

PubMed

Bach, Bo; Lee, Christopher; Mortensen, Erik Lykke; Simonsen, Erik

2016-08-01

DSM-5 offers an alternative model of personality pathology that includes 25 traits. Although personality disorders are mostly treated with psychotherapy, the correspondence between DSM-5 traits and concepts in evidence-based psychotherapy has not yet been evaluated adequately. Suitably, schema therapy was developed for treating personality disorders, and it has achieved promising evidence. The authors examined associations between DSM-5 traits and schema therapy constructs in a mixed sample of 662 adults, including 312 clinical participants. Associations were investigated in terms of factor loadings and regression coefficients in relation to five domains, followed by specific correlations among all constructs. The results indicated conceptually coherent associations, and 15 of 25 traits were strongly related to relevant schema therapy constructs. Conclusively, DSM-5 traits may be considered expressions of schema therapy constructs, which psychotherapists might take advantage of in terms of case formulation and targets of treatment. In turn, schema therapy constructs add theoretical understanding to DSM-5 traits.

Early maladaptive schemas in personality disordered individuals.

PubMed

Jovev, Martina; Jackson, Henry J

2004-10-01

The present study aimed to examine the specificity of schema domains in three personality disorder (PD) groups, namely borderline (BPD), obsessive-compulsive (OCPD), and avoidant PD (AvPD), and to correctly identify the three PD groups on the basis of these schemas. The sample consisted of 48 clinical participants diagnosed with PDs and assigned to 1 of 3 groups on the basis of their Axis II diagnoses (BPD: n = 13; OCPD: n = 13; AvPD: n = 22). High scores on Dependence/Incompetence, Defectiveness/ Shame and Abandonment were found for the BPD group. Such pattern appears to be most consistent with Young's theory of BPD. Consistent with the theory and empirical findings of Beck et al. (1990, 2001), OCPD was associated with elevations on the Unrelenting Standards schema domain, but not on Emotional Inhibition, which was found to be elevated for AvPD. In conclusion, the present study suggests that there are different patterns of schema domains across different PDs and that the Schema Questionnaire (SQ) is potentially useful in differentiating between these PDs.

Topological Schemas of Cognitive Maps and Spatial Learning.

PubMed

Babichev, Andrey; Cheng, Sen; Dabaghian, Yuri A

2016-01-01

Spatial navigation in mammals is based on building a mental representation of their environment-a cognitive map. However, both the nature of this cognitive map and its underpinning in neural structures and activity remains vague. A key difficulty is that these maps are collective, emergent phenomena that cannot be reduced to a simple combination of inputs provided by individual neurons. In this paper we suggest computational frameworks for integrating the spiking signals of individual cells into a spatial map, which we call schemas. We provide examples of four schemas defined by different types of topological relations that may be neurophysiologically encoded in the brain and demonstrate that each schema provides its own large-scale characteristics of the environment-the schema integrals. Moreover, we find that, in all cases, these integrals are learned at a rate which is faster than the rate of complete training of neural networks. Thus, the proposed schema framework differentiates between the cognitive aspect of spatial learning and the physiological aspect at the neural network level.

Cognitive structures in women with sexual dysfunction: the role of early maladaptive schemas.

PubMed

Oliveira, Cátia; Nobre, Pedro J

2013-07-01

Cognitive schemas are often related to psychological problems. However, the role of these structures within sexual problems is not yet well established. The aim of this study was to evaluate the presence and importance of early maladaptive schemas on women's sexual functioning and cognitive schemas activated in response to negative sexual events. A total of 228 women participated in the study: a control sample of 167 women without sexual problems, a subclinical sample of 37 women with low sexual functioning, and a clinical sample of 24 women with sexual dysfunction. Participants completed several self-reported measures: the Schema Questionnaire, the Questionnaire of Cognitive Schema Activation in Sexual Context, the Brief Symptom Inventory, the Beck Depression Inventory, and the Female Sexual Function Index. Findings indicated that women with sexual dysfunction presented significantly more early maladaptive schemas from the Impaired Autonomy and Performance domain, particularly failure (P < 0.001, η(2) = 0.08), dependence/incompetence (P < 0.05, η(2) = 0.03), and vulnerability to danger (P < 0.05, η(2) = 0.04). Additionally, in response to negative sexual events, women with sexual dysfunction presented significantly higher scores on incompetence (P < 0.001, η(2) = 0.16), self-depreciation (P < 0.01, η(2) = 0.05), and difference/loneliness (P < 0.01, η(2) = 0.05) schemas. Results supported differences between women with and without sexual problems regarding cognitive factors. This may have implications for the knowledge, assessment, and treatment of sexual dysfunction in women. © 2012 International Society for Sexual Medicine.

Space Communications Emulation Facility

NASA Technical Reports Server (NTRS)

Hill, Chante A.

2004-01-01

Establishing space communication between ground facilities and other satellites is a painstaking task that requires many precise calculations dealing with relay time, atmospheric conditions, and satellite positions, to name a few. The Space Communications Emulation Facility (SCEF) team here at NASA is developing a facility that will approximately emulate the conditions in space that impact space communication. The emulation facility is comprised of a 32 node distributed cluster of computers; each node representing a satellite or ground station. The objective of the satellites is to observe the topography of the Earth (water, vegetation, land, and ice) and relay this information back to the ground stations. Software originally designed by the University of Kansas, labeled the Emulation Manager, controls the interaction of the satellites and ground stations, as well as handling the recording of data. The Emulation Manager is installed on a Linux Operating System, employing both Java and C++ programming codes. The emulation scenarios are written in extensible Markup Language, XML. XML documents are designed to store, carry, and exchange data. With XML documents data can be exchanged between incompatible systems, which makes it ideal for this project because Linux, MAC and Windows Operating Systems are all used. Unfortunately, XML documents cannot display data like HTML documents. Therefore, the SCEF team uses XML Schema Definition (XSD) or just schema to describe the structure of an XML document. Schemas are very important because they have the capability to validate the correctness of data, define restrictions on data, define data formats, and convert data between different data types, among other things. At this time, in order for the Emulation Manager to open and run an XML emulation scenario file, the user must first establish a link between the schema file and the directory under which the XML scenario files are saved. This procedure takes place on the command line on the Linux Operating System. Once this link has been established the Emulation manager validates all the XML files in that directory against the schema file, before the actual scenario is run. Using some very sophisticated commercial software called the Satellite Tool Kit (STK) installed on the Linux box, the Emulation Manager is able to display the data and graphics generated by the execution of a XML emulation scenario file. The Emulation Manager software is written in JAVA programming code. Since the SCEF project is in the developmental stage, the source code for this type of software is being modified to better fit the requirements of the SCEF project. Some parameters for the emulation are hard coded, set at fixed values. Members of the SCEF team are altering the code to allow the user to choose the values of these hard coded parameters by inserting a toolbar onto the preexisting GUI.

Ambiguous Genitalia

MedlinePlus

... to ask your doctor • What is my baby’s sex? • Does my child need treatment now or later? • Are there support ... for people dealing with this condition? • Should my child see a ... for Parents: http: / / dsdguidelines. org • dsd ...

Rana computatrix to human language: towards a computational neuroethology of language evolution.

PubMed

Arbib, Michael A

2003-10-15

Walter's Machina speculatrix inspired the name Rana computatrix for a family of models of visuomotor coordination in the frog, which contributed to the development of computational neuroethology. We offer here an 'evolutionary' perspective on models in the same tradition for rat, monkey and human. For rat, we show how the frog-like taxon affordance model provides a basis for the spatial navigation mechanisms that involve the hippocampus and other brain regions. For monkey, we recall two models of neural mechanisms for visuomotor coordination. The first, for saccades, shows how interactions between the parietal and frontal cortex augment superior colliculus seen as the homologue of frog tectum. The second, for grasping, continues the theme of parieto-frontal interactions, linking parietal affordances to motor schemas in premotor cortex. It further emphasizes the mirror system for grasping, in which neurons are active both when the monkey executes a specific grasp and when it observes a similar grasp executed by others. The model of human-brain mechanisms is based on the mirror-system hypothesis of the evolution of the language-ready brain, which sees the human Broca's area as an evolved extension of the mirror system for grasping.

Efficient high-throughput biological process characterization: Definitive screening design with the ambr250 bioreactor system.

PubMed

Tai, Mitchell; Ly, Amanda; Leung, Inne; Nayar, Gautam

2015-01-01

The burgeoning pipeline for new biologic drugs has increased the need for high-throughput process characterization to efficiently use process development resources. Breakthroughs in highly automated and parallelized upstream process development have led to technologies such as the 250-mL automated mini bioreactor (ambr250™) system. Furthermore, developments in modern design of experiments (DoE) have promoted the use of definitive screening design (DSD) as an efficient method to combine factor screening and characterization. Here we utilize the 24-bioreactor ambr250™ system with 10-factor DSD to demonstrate a systematic experimental workflow to efficiently characterize an Escherichia coli (E. coli) fermentation process for recombinant protein production. The generated process model is further validated by laboratory-scale experiments and shows how the strategy is useful for quality by design (QbD) approaches to control strategies for late-stage characterization. © 2015 American Institute of Chemical Engineers.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

PubMed

Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

2017-12-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.

PubMed

Takasawa, Kei; Igarashi, Maki; Ono, Makoto; Takemoto, Akira; Takada, Shuji; Yamataka, Atsuyuki; Ogata, Tsutomu; Morio, Tomohiro; Fukami, Maki; Kashimada, Kenichi

2017-01-01

Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development. © 2018 S. Karger AG, Basel.

Head-on collision of dust acoustic solitons in a nonextensive plasma with variable size dust grains of arbitrary charge

NASA Astrophysics Data System (ADS)

Behery, E. E.

2016-11-01

The head-on collision of two dust acoustic solitons (DASs) in a nonextensive plasma with positive or negative dust grains fluid including the effect of dust size distribution (DSD) is studied. The phase shifts for the two solitons due to the collision are derived by applying the extended Poincaré-Lighthill-Kuo (PLK) method. The influences of the power law DSD and the nonextensivity of plasma particles on the characteristic properties of the head-on collision of DASs are analyzed. It is found that the phase shifts can vanish, only for the case of positive dust grains, for certain values and ranges of the dust grain radius and the entropic index of ions (qi) . Also, they undergo a cutoff in the range of qi>1 for the subextensive distribution. A brief discussion of possible applications in laboratory and space plasmas is included.

A numerical study of linear and nonlinear kinematic models in fish swimming with the DSD/SST method

NASA Astrophysics Data System (ADS)

Tian, Fang-Bao

2015-03-01

Flow over two fish (modeled by two flexible plates) in tandem arrangement is investigated by solving the incompressible Navier-Stokes equations numerically with the DSD/SST method to understand the differences between the geometrically linear and nonlinear models. In the simulation, the motions of the plates are reconstructed from a vertically flowing soap film tunnel experiment with linear and nonlinear kinematic models. Based on the simulations, the drag, lift, power consumption, vorticity and pressure fields are discussed in detail. It is found that the linear and nonlinear models are able to reasonably predict the forces and power consumption of a single plate in flow. Moreover, if multiple plates are considered, these two models yield totally different results, which implies that the nonlinear model should be used. The results presented in this work provide a guideline for future studies in fish swimming.

Anomalous Structural Disorder in Supported Pt Nanoparticles

DOE PAGES

Vila, Fernando D.; Rehr, John J.; Nuzzo, Ralph G.; ...

2017-07-02

Supported Pt nanocatalysts generally exhibit anomalous behavior, including negative thermal expansion and large structural disorder. Finite temperature DFT/MD simulations reproduce these properties, showing that they are largely explained by a combination of thermal vibrations and low-frequency disorder. We show in this paper that a full interpretation is more complex and that the DFT/MD mean-square relative displacements (MSRD) can be further separated into vibrational disorder, “dynamic structural disorder” (DSD), and long-time equilibrium fluctuations of the structure dubbed “anomalous structural disorder” (ASD). We find that the vibrational and DSD components behave normally, increasing linearly with temperature while the ASD decreases, reflecting themore » evolution of mean nanoparticle geometry. Finally, as a consequence the usual procedure of fitting the MSRD to normal vibrations plus temperature-independent static disorder results in unphysical bond strengths and Grüneisen parameters.« less

Laser Calibration of an Impact Disdrometer

NASA Technical Reports Server (NTRS)

Lane, John E.; Kasparis, Takis; Metzger, Philip T.; Jones, W. Linwood

2014-01-01

A practical approach to developing an operational low-cost disdrometer hinges on implementing an effective in situ adaptive calibration strategy. This calibration strategy lowers the cost of the device and provides a method to guarantee continued automatic calibration. In previous work, a collocated tipping bucket rain gauge was utilized to provide a calibration signal to the disdrometer's digital signal processing software. Rainfall rate is proportional to the 11/3 moment of the drop size distribution (a 7/2 moment can also be assumed, depending on the choice of terminal velocity relationship). In the previous case, the disdrometer calibration was characterized and weighted to the 11/3 moment of the drop size distribution (DSD). Optical extinction by rainfall is proportional to the 2nd moment of the DSD. Using visible laser light as a means to focus and generate an auxiliary calibration signal, the adaptive calibration processing is significantly improved.

Gender verification: a term whose time has come and gone.

PubMed

Hercher, Laura

2010-12-01

The process of testing to determine gender in putatively female athletes was developed in order to prevent cheating, but has devolved instead into a clumsy mechanism for detecting disorders of sexual development (DSD's). In over thirty years of compulsory testing, individuals with DSD's have been stigmatized and some have been denied the right to compete, although frequently their condition provided no competitive advantage. More recent guidelines require testing only on a case-by-case basis; the South African runner Caster Semenya was the first major test of this policy, and her experience points to the need for a more sensitive and confidential process. In addition, her case dramatizes the inadequacy of the term "gender verification." Gender identity is a complex entity and resists simple classification. Sports authorities may set guidelines for who can compete, but they should refrain from taking on themselves the authority to decide who is and who is not a female.

Testing Three-Item Versions for Seven of Young's Maladaptive Schema

ERIC Educational Resources Information Center

Blau, Gary; DiMino, John; Sheridan, Natalie; Pred, Robert S.; Beverly, Clyde; Chessler, Marcy

2015-01-01

The Young Schema Questionnaire (YSQ) in either long-form (205- item) or short-form (75-item or 90-item) versions has demonstrated its clinical usefulness for assessing early maladaptive schemas. However, even a 75 or 90-item "short form", particularly when combined with other measures, can represent a lengthy…

Schema Theory: A Basis for Domain Integration Design.

ERIC Educational Resources Information Center

Suzuki, Katsuaki

The cognitive and affective domains of learning outcomes--i.e., intellectual skills, verbal information, cognitive strategies, and attitudes--are parts of every schema. Located within an individual schema, these capabilities are interrelated, and acquiring one capability is likely to have an effect on other types of capabilities within the same…

Young Adolescents' Gender-, Ethnicity-, and Popularity-Based Social Schemas of Aggressive Behavior

ERIC Educational Resources Information Center

Clemans, Katherine H.; Graber, Julia A.

2016-01-01

Social schemas can influence the perception and recollection of others' behavior and may create biases in the reporting of social events. This study investigated young adolescents' (N = 317) gender-, ethnicity-, and popularity-based social schemas of overtly and relationally aggressive behavior. Results indicated that participants associated overt…

Beacon- and Schema-Based Method for Recognizing Algorithms from Students' Source Code

ERIC Educational Resources Information Center

Taherkhani, Ahmad; Malmi, Lauri

2013-01-01

In this paper, we present a method for recognizing algorithms from students programming submissions coded in Java. The method is based on the concept of "programming schemas" and "beacons". Schemas are high-level programming knowledge with detailed knowledge abstracted out, and beacons are statements that imply specific…

Parenting Schemas and the Process of Change

ERIC Educational Resources Information Center

Azar, Sandra T.; Nix, Robert L.; Makin-Byrd, Kerry N.

2005-01-01

Parents' childrearing behaviors are guided by schemas of the caregiving role, their functioning in that role, what children need in general, and what their own children are like in particular. Sometimes, however, parenting schemas can be maladaptive because they are too rigid or simple, involve inappropriate content, or are dominated by negative…

Understanding Schemas and Emotion in Early Childhood

ERIC Educational Resources Information Center

Arnold, Cath

2010-01-01

This book makes explicit connections between young children's spontaneous repeated actions and their representations of their emotional worlds. Drawing on the literature on schemas, attachment theory and family contexts, the author takes schema theory into the territory of the emotions, making it relevant to the social and emotional development…

Thinking Children: Learning about Schemas.

ERIC Educational Resources Information Center

Meade, Anne; Cubey, Pam

Schemas are cognitive structures or forms of thought, like pieces of ideas or concepts. Patterns in children's behavior, or in their drawings and paintings, indicate common themes or threads (schemas) running through them. The action research study described in this report examined the effects on children's learning of intervening in their…

The Potential Role of Conflict Resolution Schemas in Adolescent Psychosocial Adjustment

ERIC Educational Resources Information Center

Jutengren, Goran; Palmerus, Kerstin

2007-01-01

Four specific schemas of cognitive structures that adolescents may hold concerning interpersonal disagreements with their parents were identified, each reflecting an authoritative, authoritarian, indulgent, or a neglecting parenting style. To examine the occurrence of such schemas across high and low levels of psychosocial adjustment, 120 Swedish…

Androgyny Versus Gender Schema: A Comment on Bem's Gender Schema Theory.

ERIC Educational Resources Information Center

Spence, Janet T.; Helmreich, Robert L.

1981-01-01

A logical contradiction in Bem's (1981) theory is outlined. The Bem Sex Role Inventory cannot measure a unidimensional construct, gender schema, and two independent constructs--masculinity and femininity. Such instruments measure self-images of instrumental and expressive personality traits which show little relationship to the constructs…

Family Functioning and Maladaptive Schemas: The Moderating Effects of Optimism

ERIC Educational Resources Information Center

Buri, John R.; Gunty, Amy L.

2008-01-01

Authoritarian parenting is often shown to be associated with negative outcomes for children, including the development of maladaptive schemas. However, this is not the case for all children who experience Authoritarian parenting. Optimism is examined as a moderator in the relationship between Authoritarian parenting and maladaptive schemas that…

Anterior Cingulate Cortex in Schema Assimilation and Expression

ERIC Educational Resources Information Center

Wang, Szu-Han; Tse, Dorothy; Morris, Richard G. M.

2012-01-01

In humans and in animals, mental schemas can store information within an associative framework that enables rapid and efficient assimilation of new information. Using a hippocampal-dependent paired-associate task, we now report that the anterior cingulate cortex is part of a neocortical network of schema storage with NMDA receptor-mediated…

The effects of gender role orientation on team schema: a multivariate analysis of indicators in a US Federal health care organization.

PubMed

Scherer, R F; Petrick, J A

2001-02-01

In this empirical study of 649 employees at a federally supported health care facility in the United States, the authors investigated the effects of individual gender role orientation on team schema. The results indicated (a) that nontraditional male and female employees perceived the greatest amount of group cohesion in their team schemas and (b) that both traditional and nontraditional male employees perceived greater problem-solving potential in their team schemas. Meaningful implications for team composition are discussed.

How we see others: the psychobiology of schemas and transference.

PubMed

Stein, Dan J

2009-01-01

Social cognition involves automatic and stimulus-driven processes; these may be important in mediating stereotypes in the community and schemas and transference in the clinic setting. Significant differences in self-related processing and other-related processing may also lead to important biases in our view of the other. The psychobiology of social cognition is gradually being delineated, and may be useful in understanding these phenomena, and in responding appropriately. In the clinic, schemas can be rigorously assessed, and schema-focused psychotherapy may be useful in a number of indications.

Maladaptive dependency schemas, posttraumatic stress hyperarousal symptoms, and intimate partner aggression perpetration.

PubMed

Kachadourian, Lorig K; Taft, Casey T; Holowka, Darren W; Woodward, Halley; Marx, Brian P; Burns, Anthony

2013-10-01

This study examined the associations between maladaptive dependency-related schemas, posttraumatic stress disorder (PTSD) hyperarousal symptoms, and intimate-partner psychological and physical aggression in a sample of court-referred men (N = 174) participating in a domestic-abuser-intervention program. The men were largely African American; average age was 33.5 years. The extent to which hyperarousal symptoms moderated the association between dependency schemas and aggression was also examined. Maladaptive dependency-related schemas were positively associated with severe psychological, and mild and severe physical aggression perpetration. Hyperarousal symptoms were positively associated with mild and severe psychological aggression, and mild physical aggression perpetration. Multiple regression analyses showed a significant interaction for mild physical aggression: For those with high levels of hyperarousal symptoms, greater endorsement of maladaptive dependency schemas was associated with the perpetration of aggression (B = 0.98, p = .001). For those with low levels of hyperarousal symptoms, there was no association between dependency schemas and aggression (B = 0.04, ns). These findings suggest that focusing on problematic dependency and PTSD-hyperarousal symptoms in domestic-abuser-intervention programs may be helpful, and that examining related variables as possible moderators between dependency schemas and intimate aggression would be a fruitful area for future research. Published 2013. This article is a US Government work and is in the public domain in the USA.

Schema-driven facilitation of new hierarchy learning in the transitive inference paradigm

PubMed Central

Kumaran, Dharshan

2013-01-01

Prior knowledge, in the form of a mental schema or framework, is viewed to facilitate the learning of new information in a range of experimental and everyday scenarios. Despite rising interest in the cognitive and neural mechanisms underlying schema-driven facilitation of new learning, few paradigms have been developed to examine this issue in humans. Here we develop a multiphase experimental scenario aimed at characterizing schema-based effects in the context of a paradigm that has been very widely used across species, the transitive inference task. We show that an associative schema, comprised of prior knowledge of the rank positions of familiar items in the hierarchy, has a marked effect on transitivity performance and the development of relational knowledge of the hierarchy that cannot be accounted for by more general changes in task strategy. Further, we show that participants are capable of deploying prior knowledge to successful effect under surprising conditions (i.e., when corrective feedback is totally absent), but only when the associative schema is robust. Finally, our results provide insights into the cognitive mechanisms underlying such schema-driven effects, and suggest that new hierarchy learning in the transitive inference task can occur through a contextual transfer mechanism that exploits the structure of associative experiences. PMID:23782509

Is `Learning' Science Enough? - A Cultural Model of Religious Students of Science in an Australian Government School

NASA Astrophysics Data System (ADS)

Ferguson, Joseph Paul; Kameniar, Barbara

2014-10-01

This paper investigates the cognitive experiences of four religious students studying evolutionary biology in an inner city government secondary school in Melbourne, Australia. The participants in the study were identified using the Religious Background and Behaviours questionnaire (Connors, Tonigan, & Miller, 1996). Participants were interviewed and asked to respond to questions about their cognitive experiences of studying evolutionary biology. Students' responses were analysed using cultural analysis of discourse to construct a cultural model of religious students of science. This cultural model suggests that these students employ a human schema and a non-human schema, which assert that humans are fundamentally different from non-humans in terms of origins and that humans have a transcendental purpose in life. For these students, these maxims seem to be challenged by their belief that evolutionary biology is dictated by metaphysical naturalism. The model suggests that because the existential foundation of these students is challenged, they employ a believing schema to classify their religious explanations and a learning schema to classify evolutionary biology. These schemas are then hierarchically arranged with the learning schema being made subordinate to the believing schema. Importantly, these students are thus able to maintain their existential foundation while fulfilling the requirements of school science. However, the quality of this "learning" is questionable.

Schema-driven facilitation of new hierarchy learning in the transitive inference paradigm.

PubMed

Kumaran, Dharshan

2013-06-19

Prior knowledge, in the form of a mental schema or framework, is viewed to facilitate the learning of new information in a range of experimental and everyday scenarios. Despite rising interest in the cognitive and neural mechanisms underlying schema-driven facilitation of new learning, few paradigms have been developed to examine this issue in humans. Here we develop a multiphase experimental scenario aimed at characterizing schema-based effects in the context of a paradigm that has been very widely used across species, the transitive inference task. We show that an associative schema, comprised of prior knowledge of the rank positions of familiar items in the hierarchy, has a marked effect on transitivity performance and the development of relational knowledge of the hierarchy that cannot be accounted for by more general changes in task strategy. Further, we show that participants are capable of deploying prior knowledge to successful effect under surprising conditions (i.e., when corrective feedback is totally absent), but only when the associative schema is robust. Finally, our results provide insights into the cognitive mechanisms underlying such schema-driven effects, and suggest that new hierarchy learning in the transitive inference task can occur through a contextual transfer mechanism that exploits the structure of associative experiences.

Agreement between coding schemas used to identify bleeding-related hospitalizations in claims analyses of nonvalvular atrial fibrillation patients.

PubMed

Coleman, Craig I; Vaitsiakhovich, Tatsiana; Nguyen, Elaine; Weeda, Erin R; Sood, Nitesh A; Bunz, Thomas J; Schaefer, Bernhard; Meinecke, Anna-Katharina; Eriksson, Daniel

2018-01-01

Schemas to identify bleeding-related hospitalizations in claims data differ in billing codes used and coding positions allowed. We assessed agreement across bleeding-related hospitalization coding schemas for claims analyses of nonvalvular atrial fibrillation (NVAF) patients on oral anticoagulation (OAC). We hypothesized that prior coding schemas used to identify bleeding-related hospitalizations in claim database studies would provide varying levels of agreement in incidence rates. Within MarketScan data, we identified adults, newly started on OAC for NVAF from January 2012 to June 2015. Billing code schemas developed by Cunningham et al., the US Food and Drug Administration (FDA) Mini-Sentinel program, and Yao et al. were used to identify bleeding-related hospitalizations as a surrogate for major bleeding. Bleeds were subcategorized as intracranial hemorrhage (ICH), gastrointestinal (GI), or other. Schema agreement was assessed by comparing incidence, rates of events/100 person-years (PYs), and Cohen's kappa statistic. We identified 151 738 new-users of OAC with NVAF (CHA2DS2-VASc score = 3, [interquartile range = 2-4] and median HAS-BLED score = 3 [interquartile range = 2-3]). The Cunningham, FDA Mini-Sentinel, and Yao schemas identified any bleeding-related hospitalizations in 1.87% (95% confidence interval [CI]: 1.81-1.94), 2.65% (95% CI: 2.57-2.74), and 4.66% (95% CI: 4.55-4.76) of patients (corresponding rates = 3.45, 4.90, and 8.65 events/100 PYs). Kappa agreement across schemas was weak-to-moderate (κ = 0.47-0.66) for any bleeding hospitalization. Near-perfect agreement (κ = 0.99) was observed with the FDA Mini-Sentinel and Yao schemas for ICH-related hospitalizations, but agreement was weak when comparing Cunningham to FDA Mini-Sentinel or Yao (κ = 0.52-0.53). FDA Mini-Sentinel and Yao agreement was moderate (κ = 0.62) for GI bleeding, but agreement was weak when comparing Cunningham to FDA Mini-Sentinel or Yao (κ = 0.44-0.56). For other bleeds, agreement across schemas was minimal (κ = 0.14-0.38). We observed varying levels of agreement among 3 bleeding-related hospitalizations schemas in NVAF patients. © 2018 Wiley Periodicals, Inc.

HepML, an XML-based format for describing simulated data in high energy physics

NASA Astrophysics Data System (ADS)

Belov, S.; Dudko, L.; Kekelidze, D.; Sherstnev, A.

2010-10-01

In this paper we describe a HepML format and a corresponding C++ library developed for keeping complete description of parton level events in a unified and flexible form. HepML tags contain enough information to understand what kind of physics the simulated events describe and how the events have been prepared. A HepML block can be included into event files in the LHEF format. The structure of the HepML block is described by means of several XML Schemas. The Schemas define necessary information for the HepML block and how this information should be located within the block. The library libhepml is a C++ library intended for parsing and serialization of HepML tags, and representing the HepML block in computer memory. The library is an API for external software. For example, Matrix Element Monte Carlo event generators can use the library for preparing and writing a header of an LHEF file in the form of HepML tags. In turn, Showering and Hadronization event generators can parse the HepML header and get the information in the form of C++ classes. libhepml can be used in C++, C, and Fortran programs. All necessary parts of HepML have been prepared and we present the project to the HEP community. Program summaryProgram title: libhepml Catalogue identifier: AEGL_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEGL_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: GNU GPLv3 No. of lines in distributed program, including test data, etc.: 138 866 No. of bytes in distributed program, including test data, etc.: 613 122 Distribution format: tar.gz Programming language: C++, C Computer: PCs and workstations Operating system: Scientific Linux CERN 4/5, Ubuntu 9.10 RAM: 1 073 741 824 bytes (1 Gb) Classification: 6.2, 11.1, 11.2 External routines: Xerces XML library ( http://xerces.apache.org/xerces-c/), Expat XML Parser ( http://expat.sourceforge.net/) Nature of problem: Monte Carlo simulation in high energy physics is divided into several stages. Various programs exist for these stages. In this article we are interested in interfacing different Monte Carlo event generators via data files, in particular, Matrix Element (ME) generators and Showering and Hadronization (SH) generators. There is a widely accepted format for data files for such interfaces - Les Houches Event Format (LHEF). Although information kept in an LHEF file is enough for proper working of SH generators, it is insufficient for understanding how events in the LHEF file have been prepared and which physical model has been applied. In this paper we propose an extension of the format for keeping additional information available in generators. We propose to add a new information block, marked up with XML tags, to the LHEF file. This block describes events in the file in more detail. In particular, it stores information about a physical model, kinematical cuts, generator, etc. This helps to make LHEF files self-documented. Certainly, HepML can be applied in more general context, not in LHEF files only. Solution method: In order to overcome drawbacks of the original LHEF accord we propose to add a new information block of HepML tags. HepML is an XML-based markup language. We designed several XML Schemas for all tags in the language. Any HepML document should follow rules of the Schemas. The language is equipped with a library for operation with HepML tags and documents. This C++ library, called libhepml, consists of classes for HepML objects, which represent a HepML document in computer memory, parsing classes, serializating classes, and some auxiliary classes. Restrictions: The software is adapted for solving problems, described in the article. There are no additional restrictions. Running time: Tests have been done on a computer with Intel(R) Core(TM)2 Solo, 1.4 GHz. Parsing of a HepML file: 6 ms (size of the HepML files is 12.5 Kb) Writing of a HepML block to file: 14 ms (file size 12.5 Kb) Merging of two HepML blocks and writing to file: 18 ms (file size - 25.0 Kb).

An Evaluation of a Natural Language Processing Tool for Identifying and Encoding Allergy Information in Emergency Department Clinical Notes

PubMed Central

Goss, Foster R.; Plasek, Joseph M.; Lau, Jason J.; Seger, Diane L.; Chang, Frank Y.; Zhou, Li

2014-01-01

Emergency department (ED) visits due to allergic reactions are common. Allergy information is often recorded in free-text provider notes; however, this domain has not yet been widely studied by the natural language processing (NLP) community. We developed an allergy module built on the MTERMS NLP system to identify and encode food, drug, and environmental allergies and allergic reactions. The module included updates to our lexicon using standard terminologies, and novel disambiguation algorithms. We developed an annotation schema and annotated 400 ED notes that served as a gold standard for comparison to MTERMS output. MTERMS achieved an F-measure of 87.6% for the detection of allergen names and no known allergies, 90% for identifying true reactions in each allergy statement where true allergens were also identified, and 69% for linking reactions to their allergen. These preliminary results demonstrate the feasibility using NLP to extract and encode allergy information from clinical notes. PMID:25954363

The Biological Connection Markup Language: a SBGN-compliant format for visualization, filtering and analysis of biological pathways.

PubMed

Beltrame, Luca; Calura, Enrica; Popovici, Razvan R; Rizzetto, Lisa; Guedez, Damariz Rivero; Donato, Michele; Romualdi, Chiara; Draghici, Sorin; Cavalieri, Duccio

2011-08-01

Many models and analysis of signaling pathways have been proposed. However, neither of them takes into account that a biological pathway is not a fixed system, but instead it depends on the organism, tissue and cell type as well as on physiological, pathological and experimental conditions. The Biological Connection Markup Language (BCML) is a format to describe, annotate and visualize pathways. BCML is able to store multiple information, permitting a selective view of the pathway as it exists and/or behave in specific organisms, tissues and cells. Furthermore, BCML can be automatically converted into data formats suitable for analysis and into a fully SBGN-compliant graphical representation, making it an important tool that can be used by both computational biologists and 'wet lab' scientists. The XML schema and the BCML software suite are freely available under the LGPL for download at http://bcml.dc-atlas.net. They are implemented in Java and supported on MS Windows, Linux and OS X.

Negative Relational Schemas Predict the Trajectory of Coercive Dynamics During Early Childhood

PubMed Central

Smith, Justin D.; Dishion, Thomas J.; Shaw, Daniel S.; Wilson, Melvin N.

2014-01-01

Coercive family processes are germane to the development of problem behaviors in early childhood, yet the cognitive and affective underpinnings are not well understood. We hypothesized that one antecedent of early coercive interactions is the caregiver’s implicit affective attitudes toward the child, which in this article are termed relational schemas. Relational schemas have previously been linked to coercion and problem behaviors, but there has yet to be an examination of the association between relational schemas and trajectories of coercion during early childhood. We examined 731 indigent caregiver-child dyads (49% female children) from a randomized intervention trial of the Family Check-Up. Predominantly biological mothers participated. A speech sample was used to assess relational schemas at age 2. Coercive interactions were assessed observationally each year between ages 2 and 4. Caregiver and teacher reports of children’s oppositional and aggressive behaviors were collected at age 7.5 and 8.5. Path analysis revealed that negative relational schemas were associated with less steep declines in coercion during this period, which in turn were predictive of ratings of oppositional and aggressive behaviors at age 7.5/8.5 after controlling for baseline levels, positive relational schemas, child gender, ethnicity, and cumulative risk. Intervention condition assignment did not moderate this relationship, suggesting the results represent a naturally occurring process. Given the link between persistent early coercion and later deleterious outcomes, relational schemas that maintain and amplify coercive dynamics represent a potential target for early intervention programs designed to improve parent–child relationships. PMID:25208813

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

PubMed

Portnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F; Duncan, Andrew J; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon, Capucine; Louis-Sylvestre, Christine; Validire, Pierre; de Malleray Pichard, Caroline; Ravel, Celia; Christin-Maitre, Sophie; Brauner, Raja; Rossetti, Raffaella; Persani, Luca; Charreau, Eduardo H; Dain, Liliana; Chiauzzi, Violeta A; Mazen, Inas; Rouba, Hassan; Schluth-Bolard, Caroline; MacGowan, Stuart; McLean, W H Irwin; Patin, Etienne; Rajpert-De Meyts, Ewa; Jauch, Ralf; Achermann, John C; Siffroi, Jean-Pierre; McElreavey, Ken; Bashamboo, Anu

2018-04-01

SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P < 0.05) and POI (5.06%; P = 4.5 × 10-5) as compared with fertile/normospermic control populations (0.74%). The mutant proteins identified altered SOX8 biological activity as compared with the wild-type protein. These data demonstrate that SOX8 plays an important role in human reproduction and SOX8 mutations contribute to a spectrum of phenotypes including 46, XY DSD, male infertility and 46, XX POI.

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

PubMed Central

Holterhus, Paul-Martin; Bebermeier, Jan-Hendrik; Werner, Ralf; Demeter, Janos; Richter-Unruh, Annette; Cario, Gunnar; Appari, Mahesh; Siebert, Reiner; Riepe, Felix; Brooks, James D; Hiort, Olaf

2009-01-01

Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females. Results A discrete set of transcripts was directly correlated with XY or XX genotypes in all individuals independent of male or female phenotype of the external genitalia. However, a significantly larger gene set in the PBMC only reflected the degree of external genital masculinization independent of the sex chromosomes and independent of concurrent post-natal sex steroid hormone levels. Consequently, the architecture of the transcriptional PBMC-"sexes" was either male, female or even "intersex" with a discordant alignment of the DSD individuals' genetic and hormonal sex signatures. Conclusion A significant fraction of gene expression differences between males and females in the human appears to have its roots in early embryogenesis and is not only caused by sex chromosomes but also by long-term sex-specific hormonal programming due to presence or absence of androgen during the time of external genital masculinization. Genetic sex and the androgen milieu during embryonic development might therefore independently modulate functional traits, phenotype and diseases associated with male or female gender as well as with DSD conditions. PMID:19570224

Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development.

PubMed

Pasterski, Vickie; Mastroyannopoulou, Kiki; Wright, Deborah; Zucker, Kenneth J; Hughes, Ieuan A

2014-02-01

The aims of the current study were twofold: (1) to assess the prevalence/severity of posttraumatic stress symptoms (PTSS) as well as cognitive and emotional responses in parents whose children were diagnosed with a disorder of sex development (DSD); and (2) to assess factors which contributed to PTSS. We hypothesized that parents would show elevated levels of PTSS and that negative cognitive and/or emotional responses would be predictive. Participants were parents of children diagnosed with a DSD. Thirty-six mothers and 11 fathers completed a measure of posttraumatic stress and reported difficulties in the domains of cognition (e.g., confusion) and emotion (e.g., grief). Using multiple regression, we determined factors contributing to parental PTSS. Reported PTSS was high: 31 % of mothers and 18 % of fathers met the threshold for caseness for Posttraumatic Stress Disorder. Regression included: child sex, parent sex, child age at diagnosis, years since diagnosis, genital ambiguity, father occupation, cognitive confusion, and emotional distress. Only cognitive confusion contributed significantly to variance in PTSS. Parents of children with DSD may experience the diagnosis as traumatic, evidenced by high rates of PTSS in the current report. Assessment of reactions to their children's diagnoses revealed that cognitive confusion, and not emotional distress, predicted PTSS. In this case, direct cognitive interventions may be applicable. Though psychological support is widely recommended, no detailed intervention has been offered. Our findings suggest that we may directly apply models successful in other areas of pediatrics, such as pediatric oncology. Future studies may assess the usefulness of such an intervention.

[Measurement of Chemical Compounds in Indoor and Outdoor Air in Chiba City Using Diffusive Sampling Devices].

PubMed

Sakamoto, Hironari; Uchiyama, Shigehisa; Kihara, Akiko; Tsutake, Toyoshige; Bekki, Kanae; Inaba, Yohei; Nakagome, Hideki; Kunugita, Naoki

2015-01-01

Indoor air quality (IAQ) is a major concern, because people on average spend the vast majority of their time indoors and they are repeatedly exposed to indoor air pollutants. In this study, to assess indoor air quality in Chiba City, gaseous chemical compounds were surveyed using four types of diffusive sampler. Gaseous chemical compounds such as carbonyls, volatile organic compounds (VOC), acid gases, basic gases, and ozone were measured in indoor and outdoor air of 50 houses throughout Chiba City in winter and summer. Four types of diffusive sampler were used in this study: DSD-BPE/DNPH packed with 2,4-dinitrophenyl hydrazine and trans-1,2-bis(2-pyridyl)ethylene-coated silica for ozone and carbonyls; VOC-SD packed with Carboxen 564 particles for volatile organic compounds; DSD-TEA packed with triethanolamine-impregnated silica for acid gases; and DSD-NH3 packed with phosphoric acid-impregnated silica for basic gases. Almost all compounds in indoor air were detected at higher concentrations in summer than in winter. However, the nitrogen dioxide concentration in indoor air particularly increased only in winter, which well correlated with the formic acid concentration (correlation coefficient=0.974). The compound with the highest concentrations in indoor air was p-dichlorobenzene, with recorded levels of 13,000 μg m(-3) in summer and 1,100 μg m(-3) in winter in indoor air. p-Dichlorobenzene in summer and nitrogen dioxide in winter are detected at markedly high concentrations. Pollution control and continuous monitoring of IAQ are indispensable for human health.

[Mechanical behaviour of three types of surgical knots using 4/0 monofilament].

PubMed

Gil Santos, Luis; Más-Estellés, Jorge; Salmerón Sánchez, Manuel; Barrios, Carlos

2012-01-01

To experimentally study the behaviour of 4 types of monofilament with 3 knotting techniques, very often used in surgery, employing mechanical tests. Four 4/0 monofilaments were chosen, two of nylon, and the other two of polypropylene. Three types of knot designs were made with each thread. The first design (D-S-S) consisted of a double half-knot (D) followed by one single (S) in the opposite direction, a third S in turn in the opposite direction. The configuration of the second design was D-S-D, and the third, S-S-D. A mechanical fracture test was performed by stretching the thread at a rate of 4N/s, the force and deformation being recorded at intervals of 100 ms. There was a decrease in the force and deformation in the tests on threads with knots compared to threads without knots. In all cases the rupture of the thread occurred in the knot area, presumably due to damage caused to the thread during the knotting process. The D-S-D knot had the greatest resistance with polypropylene threads, and S-S-D provided the greatest resistance with nylon threads Polypropylene threads, with D-S-D knots, should be more indicated to suture tissues that have to support great forces and with little deformation of the suture (e.g., tendons). Nylon threads, with S-S-D knots, would be better indicated for tissues that have to support smaller forces and that require greater elasticity (e.g., skin). Copyright © 2011 AEC. Published by Elsevier Espana. All rights reserved.

Improving the rainfall rate estimation in the midstream of the Heihe River Basin using rain drop size distribution

NASA Astrophysics Data System (ADS)

Zhao, G.; Chu, R.; Li, X.; Zhang, T.; Shen, J.; Wu, Z.

2009-09-01

During the intensive observation period of the Watershed Allied Telemetry Experimental Research (WATER), a total of 1074 raindrop size distribution were measured by the Parsivel disdrometer, a latest state of the art optical laser instrument. Because of the limited observation data in Qinghai-Tibet Plateau, the modeling behavior was not well-done. We used raindrop size distributions to improve the rain rate estimator of meteorological radar, in order to obtain many accurate rain rate data in this area. We got the relationship between the terminal velocity of the rain drop and the diameter (mm) of a rain drop: v(D)=4.67 D0.53. Then four types of estimators for X-band polarimetric radar are examined. The simulation results show that the classical estimator R(Z) is most sensitive to variations in DSD and the estimator R (KDP, Z, ZDR) is the best estimator for estimating the rain rate. The lowest sensitivity of the rain rate estimator R (KDP, Z, ZDP) to variations in DSD can be explained by the following facts. The difference in the forward-scattering amplitudes at horizontal and vertical polarizations, which contributes KDP, is proportional to the 3rd power of the drop diameter. On the other hand, the exponent of the backscatter cross section, which contributes to Z, is proportional to the 6th power of the drop diameter. Because the rain rate R is proportional to the 3.57th power of the drop diameter, KDP is less sensitive to DSD variations than Z.

Improving the rainfall rate estimation in the midstream of the Heihe River Basin using raindrop size distribution

NASA Astrophysics Data System (ADS)

Zhao, G.; Chu, R.; Zhang, T.; Li, J.; Shen, J.; Wu, Z.

2011-03-01

During the intensive observation period of the Watershed Allied Telemetry Experimental Research (WATER), a total of 1074 raindrop size distribution were measured by the Parsivel disdrometer, the latest state-of-the-art optical laser instrument. Because of the limited observation data in Qinghai-Tibet Plateau, the modelling behaviour was not well done. We used raindrop size distributions to improve the rain rate estimator of meteorological radar in order to obtain many accurate rain rate data in this area. We got the relationship between the terminal velocity of the raindrop and the diameter (mm) of a raindrop: v(D) = 4.67D0.53. Then four types of estimators for X-band polarimetric radar are examined. The simulation results show that the classical estimator R (ZH) is most sensitive to variations in DSD and the estimator R (KDP, ZH, ZDR) is the best estimator for estimating the rain rate. An X-band polarimetric radar (714XDP) is used for verifying these estimators. The lowest sensitivity of the rain rate estimator R (KDP, ZH, ZDR) to variations in DSD can be explained by the following facts. The difference in the forward-scattering amplitudes at horizontal and vertical polarizations, which contributes KDP, is proportional to the 3rd power of the drop diameter. On the other hand, the exponent of the backscatter cross-section, which contributes to ZH, is proportional to the 6th power of the drop diameter. Because the rain rate R is proportional to the 3.57th power of the drop diameter, KDP is less sensitive to DSD variations than ZH.

ccML, a new mark-up language to improve ISO/EN 13606-based electronic health record extracts practical edition.

PubMed

Sánchez-de-Madariaga, Ricardo; Muñoz, Adolfo; Cáceres, Jesús; Somolinos, Roberto; Pascual, Mario; Martínez, Ignacio; Salvador, Carlos H; Monteagudo, José Luis

2013-01-01

The objective of this paper is to introduce a new language called ccML, designed to provide convenient pragmatic information to applications using the ISO/EN13606 reference model (RM), such as electronic health record (EHR) extracts editors. EHR extracts are presently built using the syntactic and semantic information provided in the RM and constrained by archetypes. The ccML extra information enables the automation of the medico-legal context information edition, which is over 70% of the total in an extract, without modifying the RM information. ccML is defined using a W3C XML schema file. Valid ccML files complement the RM with additional pragmatics information. The ccML language grammar is defined using formal language theory as a single-type tree grammar. The new language is tested using an EHR extracts editor application as proof-of-concept system. Seven ccML PVCodes (predefined value codes) are introduced in this grammar to cope with different realistic EHR edition situations. These seven PVCodes have different interpretation strategies, from direct look up in the ccML file itself, to more complex searches in archetypes or system precomputation. The possibility to declare generic types in ccML gives rise to ambiguity during interpretation. The criterion used to overcome ambiguity is that specificity should prevail over generality. The opposite would make the individual specific element declarations useless. A new mark-up language ccML is introduced that opens up the possibility of providing applications using the ISO/EN13606 RM with the necessary pragmatics information to be practical and realistic.

Stress Leads to Aberrant Hippocampal Involvement When Processing Schema-Related Information

ERIC Educational Resources Information Center

Vogel, Susanne; Kluen, Lisa Marieke; Fernández, Guillén; Schwabe, Lars

2018-01-01

Prior knowledge, represented as a mental schema, has critical impact on how we organize, interpret, and process incoming information. Recent findings indicate that the use of an existing schema is coordinated by the medial prefrontal cortex (mPFC), communicating with parietal areas. The hippocampus, however, is crucial for encoding…

Social Information Processing as a Mediator between Cognitive Schemas and Aggressive Behavior in Adolescents

ERIC Educational Resources Information Center

Calvete, Esther; Orue, Izaskun

2012-01-01

This longitudinal investigation assessed whether cognitive schemas of justification of violence, mistrust, and narcissism predicted social information processing (SIP), and SIP in turn predicted aggressive behavior in adolescents. A total of 650 adolescents completed measures of cognitive schemas at Time 1, SIP in ambiguous social scenarios at…

Counseling Clients with Chronic Pain: A Religiously Oriented Cognitive Behavior Framework

ERIC Educational Resources Information Center

Robertson, Linda A.; Smith, Heather L.; Ray, Shannon L.; Jones, K. Dayle

2009-01-01

The experience of chronic pain is largely influenced by core schemas and cognitive processes, including those that are religious in nature. When these schemas are negative, they contribute to the exacerbation of pain and related problems. A framework is presented for the identification of problematic religious schemas and their modification…

Individual and Sociocultural Influences on Pre-Adolescent Girls' Appearance Schemas and Body Dissatisfaction

ERIC Educational Resources Information Center

Sinton, Meghan M.; Birch, Leann L.

2006-01-01

Appearance schemas, a suggested cognitive component of body image, have been associated with body dissatisfaction in adolescent and adult samples. This study examined girls' weight status (BMI), depression, and parent, sibling, peer, and media influences as predictors of appearance schemas in 173 pre-adolescent girls. Hierarchical regression…

A Critique of Schema Theory in Reading and a Dual Coding Alternative (Commentary).

ERIC Educational Resources Information Center

Sadoski, Mark; And Others

1991-01-01

Evaluates schema theory and presents dual coding theory as a theoretical alternative. Argues that schema theory is encumbered by lack of a consistent definition, its roots in idealist epistemology, and mixed empirical support. Argues that results of many empirical studies used to demonstrate the existence of schemata are more consistently…

A Natural Teaching Method Based on Learning Theory.

ERIC Educational Resources Information Center

Smilkstein, Rita

1991-01-01

The natural teaching method is active and student-centered, based on schema and constructivist theories, and informed by research in neuroplasticity. A schema is a mental picture or understanding of something we have learned. Humans can have knowledge only to the degree to which they have constructed schemas from learning experiences and practice.…

Ability Related Differences in Schema-Guided Text Processing.

ERIC Educational Resources Information Center

Derry, Sharon J.

A study using a biasing paradigm examined four hypotheses regarding specific mechanisms thought to underlie the Assimilation-plus-Correction (A-C) theory of schema-text interactions. According to this theory, the ideas implied by a schema (type-1 ideas) are thought to be assimilated and obscured, while those ideas representing novel information…

Rape-related cognitive distortions: Preliminary findings on the role of early maladaptive schemas.

PubMed

Sigre-Leirós, Vera; Carvalho, Joana; Nobre, Pedro J

2015-01-01

Despite the important focus on the notion of cognitive distortions in the sexual offending area, the relevance of underlying cognitive schemas in sexual offenders has also been suggested. The aim of the present study was to investigate a potential relationship between Early Maladaptive Schemas (EMSs) and cognitive distortions in rapists. A total of 33 men convicted for rape completed the Bumby Rape Scale (BRS), the Young Schema Questionnaire - Short form-3 (YSQ-S3), the Brief Symptom Inventory (BSI), and the Socially Desirable Response Set Measure (SDRS-5). Results showed a significant relationship between the impaired limits schematic domain and the Justifying Rape dimension of the BRS. Specifically, after controlling for psychological distress levels and social desirability tendency, the entitlement/grandiosity schema from the impaired limits domain was a significant predictor of cognitive distortions related to Justifying Rape themes. Overall, despite preliminary, there is some evidence that the Young's Schema-Focused model namely the impaired limits dimension may contribute for the conceptualization of cognitive distortions in rapists and further investigation is recommended. Copyright © 2015 Elsevier Ltd. All rights reserved.