Sampling in Open Source Software Development: The case for using the Debian GNUILinux Distribution

Research on open source software (OSS) projects often focuses on the SourceForge collaboration platform. We argue that a GNU/Linwr distribution, such as Debian, is better suited for the sampling ofprojects because it avoids biases and contains unique information only available in an integrated environment. Especially research on the reuse of components can build on dependency information inherent in the Debian GNU/Linux packaging system. This paper therefore contributes to the practice of sampling methods in OSS research and provides empirical data on reuse dependencies in Debian.

Taxonomy, phylogeny and molecular epidemiology of Echinococcus multilocularis: From fundamental knowledge to health ecology.

Alveolar echinococcosis, caused by the tapeworm Echinococcus multilocularis, is one of the most severe parasitic diseases in humans and represents one of the 17 neglected diseases prioritised by the World Health Organisation (WHO) in 2012. Considering the major medical and veterinary importance of this parasite, the phylogeny of the genus Echinococcus is of considerable importance; yet, despite numerous efforts with both mitochondrial and nuclear data, it has remained unresolved. The genus is clearly complex, and this is one of the reasons for the incomplete understanding of its taxonomy. Although taxonomic studies have recognised E. multilocularis as a separate entity from the Echinococcus granulosus complex and other members of the genus, it would be premature to draw firm conclusions about the taxonomy of the genus before the phylogeny of the whole genus is fully resolved. The recent sequencing of E. multilocularis and E. granulosus genomes opens new possibilities for performing in-depth phylogenetic analyses. In addition, whole genome data provide the possibility of inferring phylogenies based on a large number of functional genes, i.e. genes that trace the evolutionary history of adaptation in E. multilocularis and other members of the genus. Moreover, genomic data open new avenues for studying the molecular epidemiology of E. multilocularis: genotyping studies with larger panels of genetic markers allow the genetic diversity and spatial dynamics of parasites to be evaluated with greater precision. There is an urgent need for international coordination of genotyping of E. multilocularis isolates from animals and human patients. This could be fundamental for a better understanding of the transmission of alveolar echinococcosis and for designing efficient healthcare strategies.

Evaluation of Knowledge Regarding Diagnostic Strategies for Genetic Diseases in Select Residents

Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical school and in clinical practice. This study aimed to assess how well pediatrics-focused primary care physicians apply their general genetics knowledge to clinical genetic testing using scenario-based questions. We chose to specifically focus on knowledge of the diagnostic applicability of Chromosomal Microarray (CMA) technology in pediatrics because of its recent recommendation by the International Standard Cytogenomic Array (ISCA) Consortium as a first-tier genetic test for individuals with developmental disabilities and/or congenital anomalies. Proficiency in ordering baseline genetic testing was evaluated for eighty-one respondents from four pediatrics-focused residencies (categorical pediatrics, pediatric neurology, internal medicine/pediatrics, and family practice) at two large residency programs in Houston, Texas. Similar to other studies, we found an overall deficit of genetic testing knowledge, especially among family practice residents. Interestingly, residents who elected to complete a genetics rotation in medical school scored significantly better than expected, as well as better than residents who did not elect to complete a genetics rotation. We suspect that the insufficient knowledge among physicians regarding a baseline genetics work-up is leading to redundant (i.e. concurrent karyotype and CMA) and incorrect (i.e. ordering CMA to detect achondroplasia) genetic testing and is contributing to rising health care costs in the United States. Our results provide specific teaching points upon which medical schools can focus education about clinical genetic testing and suggest that increased collaboration between primary care physicians and genetics professionals could benefit patient health care overall.

Knowledge, Attitudes, and Utilization of BRCA Testing Among Obstetricians and Gynecologists

Hereditary breast and ovarian cancer (HBOC) is an inherited cancer syndrome that is associated with mutations in the BRCA1 and BRCA2 genes. Carriers of BRCA mutations, both men and women, are at an increased risk for developing certain cancers. Carriers are most notably at an increased risk to develop breast and ovarian cancers; however an increased risk for prostate cancer, melanoma, and pancreatic cancers has also been associated with these mutations. In 2009 the American Congress of Obstetricians and Gynecologists (ACOG) released a practice bulletin stating that evaluating a patient’s risk for HBOC should be a routine part of obstetric and gynecologic practice. A survey was created and completed by 83 obstetricians and gynecologists in the greater Houston, TX area. The survey consisted of four sections designed to capture demographic information, attitudes towards HBOC and BRCA testing, utilization of BRCA testing, and the overall knowledge of respondents with regards to HBOC and BRCA testing. This study found that the majority of participants indicated that they felt that obstetricians and gynecologists should have the primary responsibility of identifying patients who may be at increased risk of carrying a BRCA mutation. Moreover, this study found that the majority of participants indicated that they felt comfortable or very comfortable in identifying patients at an increased risk of carrying a BRCA mutation. However, only about a quarter of participants indicated that they order BRCA genetic testing one to two times per month or more. Lastly, this study demonstrates that the overall knowledge of HBOC and BRCA testing among this population of obstetricians and gynecologists is poor. The results of this study stress the need for more education regarding HBOC, genetic testing, and strategies for identifying patients that may be at risk for having a mutation in a BRCA gene. Furthermore, it reiterates the importance of raising awareness to current practice guidelines and recommendations that can assist obstetricians and gynecologist to better identify and manage patients that may be at an increased risk of having HBOC.

Formalizing a Conceptual Framework of Work Domain Knowledge

Background: The failure rate of health information systems is high, partially due to fragmented, incomplete, or incorrect identification and description of specific and critical domain requirements. In order to systematically transform the requirements of work into real information system, an explicit conceptual framework is essential to summarize the work requirements and guide system design. Recently, Butler, Zhang, and colleagues proposed a conceptual framework called Work Domain Ontology (WDO) to formally represent users’ work. This WDO approach has been successfully demonstrated in a real world design project on aircraft scheduling. However, as a top level conceptual framework, this WDO has not defined an explicit and well specified schema (WDOS) , and it does not have a generalizable and operationalized procedure that can be easily applied to develop WDO. Moreover, WDO has not been developed for any concrete healthcare domain. These limitations hinder the utility of WDO in real world information system in general and in health information system in particular. Objective: The objective of this research is to formalize the WDOS, operationalize a procedure to develop WDO, and evaluate WDO approach using Self-Nutrition Management (SNM) work domain. Method: Concept analysis was implemented to formalize WDOS. Focus group interview was conducted to capture concepts in SNM work domain. Ontology engineering methods were adopted to model SNM WDO. Part of the concepts under the primary goal “staying healthy” for SNM were selected and transformed into a semi-structured survey to evaluate the acceptance, explicitness, completeness, consistency, experience dependency of SNM WDO. Result: Four concepts, “goal, operation, object and constraint”, were identified and formally modeled in WDOS with definitions and attributes. 72 SNM WDO concepts under primary goal were selected and transformed into semi-structured survey questions. The evaluation indicated that the major concepts of SNM WDO were accepted by 41 overweight subjects. SNM WDO is generally independent of user domain experience but partially dependent on SNM application experience. 23 of 41 paired concepts had significant correlations. Two concepts were identified as ambiguous concepts. 8 extra concepts were recommended towards the completeness of SNM WDO. Conclusion: The preliminary WDOS is ready with an operationalized procedure. SNM WDO has been developed to guide future SNM application design. This research is an essential step towards Work-Centered Design (WCD).

Knowledge and Expectations of Support People in Prenatal Genetic Counseling Sessions

Prenatal genetic counseling patients have the ability to choose from a myriad of screening and diagnostic testing options, each with intricacies and caveats regarding accuracy and timing. Decisions regarding such testing can be difficult and are often made on the same day that testing is performed. Therefore, it is reasonable to consider that the support people brought to an appointment may have a role in the decision-making process. We aimed to better define this potential role by examining the incoming knowledge and expectations of support people who attended prenatal genetic counseling appointments. Support people were asked to complete a survey at one of seven Houston area prenatal clinics. The survey included questions regarding demographics, relationship to patient, incoming knowledge of the appointment, expectations of decision-making and perceived levels of influence over the decisions that would be made during the counseling session. The majority (79.4%) of the 252 participants were spouses/partners. Overall, there was poor knowledge of the referral indications with only 33.5% of participants correctly identifying the patient’s indication. Participants had even poorer knowledge of testing options that would be offered during the session, as only 17.7% were able to correctly identify testing options that would be discussed during the genetic counseling session. Of participants, just 3.6% said that they did not want to be included in discussions about screening/testing options. Only a few participants thought that they had less influence over decisions related to the pregnancy than over non-pregnancy decisions. Participants who reported feeling like they had a higher level of influence were likely to attend more of the pregnancy-related appointments with the patient. Findings from this study have provided insight into the perspective of support persons and have identified gaps in knowledge that may exist between the patients and the people they choose to bring with them into the genetic counseling session. In addition, this study is a starting point to assess how much the support people think that they impact the decision-making process of prenatal genetic counseling patients versus how much the prenatal patients value the input of the support people.

AN ASSESSMENT OF KNOWLEDGE AND ATTITUDES OF GENETIC COUNSELING SERVICES IN U.S. HTCs

Hemophilia is a hereditary bleeding disorder which requires lifelong specialized care. A network of Hemophilia Treatment Centers (HTCs) exists to meet the medical needs of patients affected by hemophilia. Genetic counseling services are an integral part of the HTC model of care; however, many HTCs do not have genetic counselors on staff. As a result, the duty to provide these services must fall to other healthcare providers within the HTC. To assess the knowledge and attitudes of these providers we developed a 49 question survey that was distributed electronically to hematologists and nurses at U.S. HTCs. The survey consisted of a three sections: demographic information, knowledge of hemophilia genetics, and attitudes towards genetic services. A total of 111 complete responses were received and analyzed. The average knowledge score among all participants was 74.8% with a total of 81 participants receiving a passing score of 70% or above. Thirty participants scored below 70% in the knowledge section. In general, attitude scores were high indicating that the majority of hematologists and nurses in HTCs feel confident in their ability to provide genetic counseling services. Over 90% of participants reported that they have some form of access to genetic counseling services at their center. Hematologists and nurses practicing in U.S. HTCs demonstrate sufficient knowledge of the genetics of hemophilia, and they generally feel confident in their ability to provide genetic counseling services to their patients. While their knowledge is sufficient, the average knowledge score was lower than 75%. Certain questions covering new genetic technologies and testing practices were more commonly missed than questions asking about more basic aspects of hemophilia genetics, such as inheritance and carrier testing. Finally, many clinics report having access to a counselor, but it is oftentimes a hematologist or nurse who is providing genetic counseling services to patients. Given the inconsistency in knowledge among providers coupled with the high confidence in one’s ability to counsel patients, it leaves room to question whether information about the genetics of hemophilia is being communicated to patients in the most appropriate and accurate manner.

Translating knowledge into action: Information needs of decision-makers in healthcare

Purpose: The purpose of this study was to assess the healthcare information needs of decision-makers in a local US healthcare setting in efforts to promote the translation of knowledge into action. The focus was on the perceptions and preferences of decision-makers regarding usable information in making decisions as to identify strategies to maximize the contribution of healthcare findings to policy and practice. Methods: This study utilized a qualitative data collection and analysis strategy. Data was collected via open-ended key-informant interviews from a sample of 37 public and private-sector healthcare decision-makers in the Houston/Harris County safety net. The sample was comprised of high-level decision-makers, including legislators, executive managers, service providers, and healthcare funders. Decision-makers were asked to identify the types of information, the level of collaboration with outside agencies, useful attributes of information, and the sources, formats/styles, and modes of information preferred in making important decisions and the basis for their preferences. Results: Decision-makers report acquiring information, categorizing information as usable knowledge, and selecting information for use based on the application of four cross-cutting thought processes or cognitive frameworks. In order of apparent preference, these are time orientation, followed by information seeking directionality, selection of validation processes, and centrality of credibility/reliability. In applying the frameworks, decision-makers are influenced by numerous factors associated with their perceptions of the utility of information and the importance of collaboration with outside agencies in making decisions as well as professional and organizational characteristics. Conclusion: An approach based on the elucidated cognitive framework may be valuable in identifying the reported contextual determinants of information use by decision-makers in US healthcare settings. Such an approach can facilitate active producer/user collaborations and promote the production of mutually valued, comprehensible, and usable findings leading to sustainable knowledge translation efforts long-term.^

Scientific Production on Open Access : A Worldwide Bibliometric Analysis in the Academic and Scientific Context

This research aims to diachronically analyze the worldwide scientific production on open access, in the academic and scientific context, in order to contribute to knowledge and visualization of its main actors. As a method, bibliographical, descriptive and analytical research was used, with the contribution of bibliometric studies, especially the production indicators, scientific collaboration and indicators of thematic co-occurrence. The Scopus database was used as a source to retrieve the articles on the subject, with a resulting corpus of 1179 articles. Using Bibexcel software, frequency tables were constructed for the variables, and Pajek software was used to visualize the collaboration network and VoSViewer for the construction of the keywords' network. As for the results, the most productive researchers come from countries such as the United States, Canada, France and Spain. Journals with higher impact in the academic community have disseminated the new constructed knowledge. A collaborative network with a few subnets where co-authors are from different countries has been observed. As conclusions, this study allows identifying the themes of debates that mark the development of open access at the international level, and it is possible to state that open access is one of the new emerging and frontier fields of library and information science

Scientific Production on Open Access : A Worldwide Bibliometric Analysis in the Academic and Scientific Context

This research aims to diachronically analyze the worldwide scientific production on open access, in the academic and scientific context, in order to contribute to knowledge and visualization of its main actors. As a method, bibliographical, descriptive and analytical research was used, with the contribution of bibliometric studies, especially the production indicators, scientific collaboration and indicators of thematic co-occurrence. The Scopus database was used as a source to retrieve the articles on the subject, with a resulting corpus of 1179 articles. Using Bibexcel software, frequency tables were constructed for the variables, and Pajek software was used to visualize the collaboration network and VoSViewer for the construction of the keywords' network. As for the results, the most productive researchers come from countries such as the United States, Canada, France and Spain. Journals with higher impact in the academic community have disseminated the new constructed knowledge. A collaborative network with a few subnets where co-authors are from different countries has been observed. As conclusions, this study allows identifying the themes of debates that mark the development of open access at the international level, and it is possible to state that open access is one of the new emerging and frontier fields of library and information science

Scientific Production on Open Access : A Worldwide Bibliometric Analysis in the Academic and Scientific Context

This research aims to diachronically analyze the worldwide scientific production on open access, in the academic and scientific context, in order to contribute to knowledge and visualization of its main actors. As a method, bibliographical, descriptive and analytical research was used, with the contribution of bibliometric studies, especially the production indicators, scientific collaboration and indicators of thematic co-occurrence. The Scopus database was used as a source to retrieve the articles on the subject, with a resulting corpus of 1179 articles. Using Bibexcel software, frequency tables were constructed for the variables, and Pajek software was used to visualize the collaboration network and VoSViewer for the construction of the keywords' network. As for the results, the most productive researchers come from countries such as the United States, Canada, France and Spain. Journals with higher impact in the academic community have disseminated the new constructed knowledge. A collaborative network with a few subnets where co-authors are from different countries has been observed. As conclusions, this study allows identifying the themes of debates that mark the development of open access at the international level, and it is possible to state that open access is one of the new emerging and frontier fields of library and information science

Exploiting Structured Linked Data in Enterprise Knowledge Management Systems: An Idea Management Case Study

In parallel to the effort of creating Open Linked Data for the World Wide Web there is a number of projects aimed for developing the same technologies but in the context of their usage in closed environments such as private enterprises. In the paper, we present results of research on interlinking structured data for use in Idea Management Systems - a still rare breed of knowledge management systems dedicated to innovation management. In our study, we show the process of extending an ontology that initially covers only the Idea Management System structure towards the concept of linking with distributed enterprise data and public data using Semantic Web technologies. Furthermore we point out how the established links can help to solve the key problems of contemporary Idea Management Systems

Using Provenance for Quality Assessment and Repair in Linked Open Data

As the number of data sources publishing their data on the Web of Data is growing, we are experiencing an immense growth of the Linked Open Data cloud. The lack of control on the published sources, which could be untrustworthy or unreliable, along with their dynamic nature that often invalidates links and causes conflicts or other discrepancies, could lead to poor quality data. In order to judge data quality, a number of quality indicators have been proposed, coupled with quality metrics that quantify the “quality level” of a dataset. In addition to the above, some approaches address how to improve the quality of the datasets through a repair process that focuses on how to correct invalidities caused by constraint violations by either removing or adding triples. In this paper we argue that provenance is a critical factor that should be taken into account during repairs to ensure that the most reliable data is kept. Based on this idea, we propose quality metrics that take into account provenance and evaluate their applicability as repair guidelines in a particular data fusion setting.

Publishing Orthology and Diseases Information in the Linked Open Data Cloud

The Linked Data initiative offers a straight method to publish structured data in the World Wide Web and link it to other data, resulting in a world wide network of semantically codified data known as the Linked Open Data cloud. The size of the Linked Open Data cloud, i.e. the amount of data published using Linked Data principles, is growing exponentially, including life sciences data. However, key information for biological research is still missing in the Linked Open Data cloud. For example, the relation between orthologs genes and genetic diseases is absent, even though such information can be used for hypothesis generation regarding human diseases. The OGOLOD system, an extension of the OGO Knowledge Base, publishes orthologs/diseases information using Linked Data. This gives the scientists the ability to query the structured information in connection with other Linked Data and to discover new information related to orthologs and human diseases in the cloud.

Open Technologies for prototyping the Internet of Things

The worldwide "hyper-connection" of any object around us is the challenge that promises to cover the paradigm of the Internet of Things. If the Internet has colonized the daily life of more than 2000 million1 people around the globe, the Internet of Things faces of connecting more than 100000 million2 "things" by 2020. The underlying Internet of Things’ technologies are the cornerstone that promises to solve interrelated global problems such as exponential population growth, energy management in cities, and environmental sustainability in the average and long term. On the one hand, this Project has the goal of knowledge acquisition about prototyping technologies available in the market for the Internet of Things. On the other hand, the Project focuses on the development of a system for devices management within a Wireless Sensor and Actuator Network to offer some services accessible from the Internet. To accomplish the objectives, the Project will begin with a detailed analysis of various “open source” hardware platforms to encourage creative development of applications, and automatically extract information from the environment around them for transmission to external systems. In addition, web platforms that enable mass storage with the philosophy of the Internet of Things will be studied. The project will culminate in the proposal and specification of a service-oriented software architecture for embedded systems that allows communication between devices on the network, and the data transmission to external systems. Furthermore, it abstracts the complexities of hardware to application developers. RESUMEN. La “hiper-conexión” a nivel mundial de cualquier objeto que nos rodea es el desafío al que promete dar cobertura el paradigma de la Internet de las Cosas. Si la Internet ha colonizado el día a día de más de 2000 millones1 de personas en todo el planeta, la Internet de las Cosas plantea el reto de conectar a más de 100000 millones2 de “cosas” para el año 2020. Las tecnologías subyacentes de la Internet de las Cosas son la piedra angular que prometen dar solución a problemas globales interrelacionados como el crecimiento exponencial de la población, la gestión de la energía en las ciudades o la sostenibilidad del medioambiente a largo plazo. Este Proyecto Fin de Carrera tiene como principales objetivos por un lado, la adquisición de conocimientos acerca de las tecnologías para prototipos disponibles en el mercado para la Internet de las Cosas, y por otro lado el desarrollo de un sistema para la gestión de dispositivos de una red inalámbrica de sensores que ofrezcan unos servicios accesibles desde la Internet. Con el fin de abordar los objetivos marcados, el proyecto comenzará con un análisis detallado de varias plataformas hardware de tipo “open source” que estimulen el desarrollo creativo de aplicaciones y que permitan extraer de forma automática información del medio que les rodea para transmitirlo a sistemas externos para su posterior procesamiento. Por otro lado, se estudiarán plataformas web identificadas con la filosofía de la Internet de las Cosas que permitan el almacenamiento masivo de datos que diferentes plataformas hardware transfieren a través de la Internet. El Proyecto culminará con la propuesta y la especificación una arquitectura software orientada a servicios para sistemas empotrados que permita la comunicación entre los dispositivos de la red y la transmisión de datos a sistemas externos, así como facilitar el desarrollo de aplicaciones a los programadores mediante la abstracción de la complejidad del hardware.