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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Application of ontologies and semantic web technologies in the field of medicine</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Petrika Manika</string-name>
          <email>petrika.manika@fs</email>
          <email>petrika.manika@fs hn.edu.al</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Elda Xhumari</string-name>
          <email>elda.xhumari@fsh</email>
          <email>elda.xhumari@fsh n.edu.al</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Ana Ktona</string-name>
          <email>ana.ktona@fshn.ed</email>
          <email>ana.ktona@fshn.ed u.al.com</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Aurela Demiri</string-name>
          <email>aurela.demiri2@fs</email>
          <email>aurela.demiri2@fs hnstudent.info</email>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Department of</institution>
          ,
          <addr-line>Informatics</addr-line>
          ,
          <institution>University of</institution>
          ,
          <addr-line>Tirana</addr-line>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Master of Science</institution>
          ,
          <addr-line>in Informatics</addr-line>
          ,
          <institution>University of</institution>
          ,
          <addr-line>Tirana</addr-line>
        </aff>
      </contrib-group>
      <abstract>
        <p>The complexity and diversity of knowledge and terminology of medical science is one of the main obstacles to successful interdisciplinary studies. Important data are difficult to find and to be selected mainly due to different formats, schemes and semantics they have. Extracting automatic knowledge from previous practices and past medical history is also very difficult due to the diversity of medical systems. This paper aims to present a solution to these problems by using ontologies and semantic web technologies. In this paper we intend to emphasize that the use of ontologies and semantic web technologies like RDF, OWL and SPARQL can provide the necessary semantics for a variety of medical domains and, moreover, can serve as tools for building innovative solutions technology to existing problems.</p>
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>1. Introduction</title>
      <p>One of the most challenging problems in the field of
health care is to ensure interaction between health care
systems "(Bicer, Laleci, Dogac, &amp; Kabak, 2005).
Ontology improves interaction in healthcare systems.
In this area, interaction between systems is more
delayed than in other areas such as finance where
ontology is better. Ontology can help build robust and
more interoperable information systems. They can
support the need for a healthcare process for re-use,
transmitting and sharing personal data of the patient.
The use of ontology in medicine is mainly focused on
the representation and organization or reorganization
of medical terminologies. If it is understandable,
ontology is an essential part of any solution to the
problems of medical terminology. In Albania the
knowledge about ontology are very little compared to
developed countries, or there is almost no knowledge
in this area. This paper will present the role of semantic
network and ontology in the field of medicine. It will
be determined the role of information technology in
this area and the features that need to be taken into
account by the technological solutions. Knowledge in
this material can serve as a beginning for anyone
wishing to learn and practice the ontology and
technologies of Web Semantics. Specifically, in this
study were taken the patient's medical records, about
who is created an ontology scheme and some simple
query. Ontology built here is just a small part of what
can be done for medical records. The field of study for
the application of ontology is supposed to be applied
precisely in medicine to the importance of maintaining
data retention in this field.</p>
    </sec>
    <sec id="sec-2">
      <title>2. Characteristics of Semantic Web</title>
      <p>The web has become an inseparable object of our daily
lives and the amount of online information is growing.
In addition to simple texts which occupy most of the
multimedia information like graphics, audio or video
have become a prevalent part. The question is how to
find useful information in this vast of information? It
means to find what you need without much research
while there is infinite information about what you are
looking for. Traditional search engines will come to the
limits of their powers when it comes to understanding
the content of the information. Here comes Semantic
Web Help [Bern98]. Tim Berners-Lee identifies two
main objectives the Web has to fulfill [Bern97].
a) The first objective is to enable people to work
together by allowing them to share knowledge between
them.
b) The second objective is to include tools that can help
people analyze and manage the information they share
in a meaningful way. This vision has become known
as the Semantic Web (SW). So, initially, the term
"Semantic Web" has been invented by Sir WWW Sir
Tim Berners-Lee and has also inspired many
researches in this field. Ever since its inception, the
development of Semantic Web technologies has been
closely linked to WWW. The semantic web is an
extension of the traditional web, in the sense that the
information contained in the natural text is
supplemented by clear semantics based on the formal
representation of knowledge. It has also been
conceived as an extension of the WWW that allows
computers to search, combine, and intelligently
process web content, based on the understanding that
this content has on people. In the absence of artificial
intelligence at the human level, this can only be
achieved if the intended meaning of web resources is
clearly defined in a format that can be processed by
computers. In order to achieve this, it is not enough to
store data in a machine-readable syntax, but it is
required that these data are equipped with a semantics
that clearly specifies the conclusions that should be
drawn from the available information on our disposal.
Often it is difficult for people to agree on the validity
of the content of a document, and it is therefore much
more difficult to formalize that document in order to
make sense even for the computer. So this is an
impossible attempt. The purpose of the Semantic Web
is to enable cars to have more information that so far
has required human time and attention. As a
consequence, the Web Semantics does not refer to a
specific extension of WWW, but is rather an ideal
against which the network evolves over time.
Meanwhile any progress in this area can also be useful
in applications that are not closely related to the web.
The Semantic Web Vision is to add a syntax web so
that resources are more easily interpreted by programs
(or 'intelligent agents'). As mentioned above, the
Semantic Web is a vision for the future of the web in
which information is given clear meaning, making it
easier for machines to process and automatically
integrate available information into the Web. In order
to better understand the Semantic Web, the
architecture built by Tim Berners-Lee, called
"Semantic web stack" [Alq16] or "Semantic Web
Layer Cake" (Figure 1), comes in handy.</p>
      <sec id="sec-2-1">
        <title>2.1. Why is semantic needed?</title>
        <p>Natural language is amazing; it is hard to imagine a
better API for knowledge [Seg,Eva,Tay12]. Without
much effort, we can ask a foreigner how to find a place
where we want to go; we can share our knowledge of
different things in our community of friends; we can
go to the library, take a book, and learn from an author
who lived hundreds of years ago. Semantics is the
process of communicating enough meaning to result in
an action. The sequence of symbols can be used to
communicate meaning, and this communication can
affect behavior. For example, when we read this
material, what we are doing is integrating the ideas
expressed in these sentences with everything we knew
before. If the writing semantic in the material is clear,
it should help readers to create an idea about ontology
and web semantics to serve as a starting point for other
larger jobs. If the semantics is not reached, then the
reader will not get much benefit from the study. So
semantics is very important and is the main thing to be
considered during any kind of work. The foundations
of Semantic Web technologies are data formats that
can be used to encode knowledge for computer-based
processing, although the focus is on different forms of
knowledge. We summarize three key issues that
provide conceptual support for the Semantic Web:
Model Building, search to describe the world in an
abstract way, to allow for easier understanding of a
complex reality. Knowledge-based computing,
attempting to build reasoning machines that can make
meaningful conclusions from encrypted knowledge.
Exchange information, transmit complex source
information between computers that allow us to
disseminate and link knowledge at a global scale.</p>
      </sec>
      <sec id="sec-2-2">
        <title>2.2. The scope of the semantic web</title>
        <p>Semantic Web technologies and semantics provide us
with a new approach to information management and
processes, the basic principle of which is the creation
and use of semantic metadata. Metadata is a data set
that provides information about other data
[Dav,Stu,War06]. Metadata can exist on two levels.
On one hand, they can describe a document, for
example a website, or part of a document, for example
a paragraph. On the other hand, they can describe
subjects within the document, for example a person,
country, or company. In both cases the most important
thing is that metadata is semantic, so they tell us about
the content of a document and the link to other
documents or even about a subject within the
document. This contrast with metadata on today's Web
site simply describes the format in which information
should appear: Using HTML, it can be specified that a
given string should be displayed in bold, red color, but
can not specify that the string indicates a product price,
a copyright name, and so on. There are a number of
additional services that metadata can do (Davies et al.,
2003). Initially, based on the meaning of information
we can arrange it and find it, not just the text. Using
semantics the systems can understand where words or
expressions are equivalent. When we search for
'George W Bush' we can get a document that is equally
valid referring to the "United States President".
Inversely systems may differ when the same word is
used with different meanings. If we search for
references to the word 'Jaguar' in the context of the
motor industry, the system may ignore references to
large cats or the operating system of the same name.
The way information is presented can be improved by
using semantics. Instead of a search that provides a
linear list of results, results can be summed up by
meaning. So a search for 'Jaguar' can provide
documents assembled on whether they are related to
cars, large cats, operating systems, or different themes
all together. However, we can go further by using
semantics to merge information from all related
documents, removing surpluses and summing up
where appropriate. Links between the main entities in
the documents can be represented visually. The reason
behind all this is the ability to justify and draw
conclusions from existing knowledge in order to create
new knowledge. The use of semantic metadata is also
crucial for integrating information from heterogeneous
sources, whether within an organization or across
organizations. Various schemes are used to describe
and classify information, and different terminologies
are used together with information. By creating
different schemes, it is possible to create a unified view
and achieve interaction between processes that use the
information. Semantic descriptions can also be applied
to processes presented as web services. When the
function of an Internet service can be described
semantically, then the web service can be more easily
detected. When existing web services are provided
with metadata describing their function and context,
then new services can be automatically compiled from
a combination of existing services.</p>
      </sec>
    </sec>
    <sec id="sec-3">
      <title>3. Ontologies</title>
      <p>Semantic technology has the potential to provide
solutions for many limitations, providing enhanced
access to knowledge based on the use of metadata
processed by the machines. By using semantics we can
improve the way information is presented. Basically,
in all semantic Web applications is the use of ontology.
They facilitate the sharing of knowledge and reuse
between agents, whether human or artificial. The word
"Ontology" comes from onto-logos and is the science
of being. In computer science, ontology is a formal
representation of knowledge from a variety of concepts
within a domain and the relationship between
concepts. The most widespread in computing is the
definition of Gruber [Gru05]. Gruber initially defined
ontology as an "explicit specification of a
conceptualization". From the beginning there were
some discussions about this definition and is thought
to be incomplete. Therefore, other authors over the
years have improved this interpretation by making it
more expressive and comprehensible. In 1997, Borst
defined ontology as a "formal specification of a
common conceptualization" [Bor97]. Several years
later, Studer et al. expanded this definition by
introducing a new and more complete definition:
Ontology is a formal and explicit specification of
separate conceptualization" [Stu, Ben, Fen98]. The
formal term has to do with what the ontology should
be readable by the machine. Explicit means that the
type of concepts used and the limitations during their
use are explicitly defined, so clearly stated and in
details that leave no room for confusion. The meaning
of the concepts should be clearly defined. While
conceptualization is an abstract, simplified picture of
the world we want to present [Gen, Nil87].
Conceptualization describes knowledge on the domain
(domain). The divided term emphasizes that ontology
should include knowledge received from different
groups rather than individual ones.</p>
      <sec id="sec-3-1">
        <title>3.1. The scope for the use of ontologies</title>
        <p>Ontology is developed and defined to share knowledge
among researchers working in the same field. Some of
the main purposes of using ontology are: sharing
knowledge on the same domain, reuse of previously
used ontology, sharing domain knowledge from
operational knowledge. Some of the design criteria for
ontology are: clarity, coherence and extension.
Ontology consists of a number of different
components. The names of these components vary
depending on the ontological language used and the
authors. But the core components are common among
different ontology. These components can be divided
into two types: those that describe domain entities
called concepts, individuals, and relationships; and
those that either enable the use of ontology or describe
ontology itself. The common components of ontology
include: Classes, Can be real-world concrete objects or
abstract concepts. Individuals, instances or objects,
represent the basic or atomic level of ontology.
Attributes, aspects, properties, features, or parameters
that objects might have. Links or Relationships: Define
the ways in which classes and individuals can connect
to one another.</p>
      </sec>
    </sec>
    <sec id="sec-4">
      <title>4. Ontology in the field of medicine</title>
      <p>The use of ontology in medicine mainly focuses on the
representation and organization of medical
terminologies. Doctors have developed their
specialized languages in order to help them maintain
and communicate effectively general medical
knowledge and patient information. Such
terminologies, which are optimized for human
processing, are characterized by a considerable amount
of knowledge not clearly expressed. Meanwhile
medical information systems should be able to
communicate complex and detailed medical concepts.
This is a difficult task and requires a profound analysis
of the structure and concepts of medical terminology.
It can be achieved by building ontology of the medical
field in order to present medical terminology systems.
The benefits of ontology in this area:
• Ontology can help build stronger systems and higher
interaction of information in health care. Interaction in
health care is the ability of various technological
information systems and software applications to
exchange data and use this information that is
exchanged.
• Ontology may support the need for a healthcare
process to transmit and reuse patient records.
• Ontology has the ability to support the integration of
knowledge and data, which can be considered as the
most important benefit they can bring to healthcare
systems.</p>
      <sec id="sec-4-1">
        <title>4.1. Current work on medical ontologies</title>
        <p>There are some ontology and systems that have been
created nowadays in the field of medicine. Some of
them are: CO-ODE: Cooperative Open Environment
Development Project, Medical Informatics Group at
the University of Manchester. LinKBase: is a
knowledge base of over one million language
independent medical concepts. Contains an ontology
with a formal conceptual description of the medical
field. MedO - a bio-medical ontology developed at the
Institute of Formal Ontology and Medical Information
Systems, Germany. The Basic Model of Anatomy - an
ontology which represents a coherent body of explicit
declarative knowledge about human anatomy. The
Consortium of Ontology of Geneva which aims to
produce a controlled dictionary that can be applied to
all organisms as knowledge even if the role of genes
and proteins in the cell is accumulating or changing.
4.1.1.</p>
      </sec>
      <sec id="sec-4-2">
        <title>GALEN</title>
        <p>GALEN and "Galen-Core" is top level ontology for
medicine [Noy, McG]. GALEN is the abbreviation for
Generalized Architecture for Languages,
Encyclopedia and Nomenclature in Medicine. This is a
European project (1992-1999) developed for the reuse
of terminology in clinical systems. GALEN was
developed from the terminology based on the
knowledge of the electronic records system. GALEN
unlike most traditional terminologies provides
terminology in order to construct terminology
description blocks. GALEN developed appropriate
technology for [Gua]:
• Allowing clinical information to be captured,
displayed, modified and appear more powerful.
• Support the reuse of information to integrate medical
records and other clinical systems.
4.1.2.</p>
      </sec>
      <sec id="sec-4-3">
        <title>Gene Ontology</title>
        <p>Gene Ontology (GO) is a controlled biological
terminology that is created by a bioinformatics society.
It is a relatively new ontology compared to other
ontology but has a greater impact on the bioinformatics
community. Initially, GO addressed terminologies
from three databases: Flybase, Saccharomyces
Genome database, and Mouse Genome database. The
gene database is the central repository for genomic
mapping data that results from the Human Genome.
Later then developed three hierarchies of terms to
describe biological processes, cellular components,
and molecular functions. Authors have found it
reasonable to put definitions and comments about
genes on the ontology notes.</p>
      </sec>
    </sec>
    <sec id="sec-5">
      <title>5. An ontology records example for medical</title>
      <p>The example that will be shown below is the proposal
of an ontology for medical records in the republic of
Albania. For this purpose, Kartele.owl has been built
using Protégé. The classes that are part of this ontology
are listed and described below:
• Person: a person can be a patient or a clinically
qualified person.
• Mjek: a person qualified to treat people who are ill.
• Pacient: a person with a health problem.
• Diagnoze: Determining or identifying a diseased
condition. Diagnosis has two subclasses that are
Diagnoze_shtrimi and Diagnoze_e_daljes.
• Sëmundje: a disorder of structure or function in a
person. The disease has subclasses:
Ekzaminimi_i_pergjithshem, Histori_e_semundjes dhe
Rezultatet_e_Ekzaminimit, respectively Overall
Examination, Injury History and Examination Results
• Trajtimi: medical care given to a sick patient.
Treatment has subclasses:
Barnat_e_marra, Dhenia_e_mjekimit,Dozat_e_marra
dhe Kohezgjatja, respectively: Barn, Housekeeping,
Dummies and Duration
• Spitali: the institution providing medical treatment
and health care for people with health problems. A
hospital has doctors, nurses, and other staff that we do
not need for our ontology.</p>
      <p>In addition to class-subclass links that are easily
distinguished from the above figure, Object Properties
that are created through Protégé are
• ka_pacientë


domain: Mjek
range: Pacient
• ka_mjek


















• punon_në
domain: Spital
range: Mjek
domain: Mjek
range: Spital
• ka_sëmundje
• ka_trajtim
• varet_nga
domain: Sëmundje
range: Pacient
domain: Mjekimi
range: Sëmundja
domain: Sëmundja
range: Trajtim
• Id
• emri
• gjinia
• adresa
domain: Person
range: int
domain: Person
range: String
domain: Person
range: String
domain: Person
range: Double
• specializim


domain: Mjek
range: String
For each of the Object Properties, define the domain
and range that are the class or subclass. Then there are
Data Properties that describe the connection between
instances and data veils. Some built Data_properties
are:
Also for Data Properties we define the domain and
range, but in this case the domain is a class whereas the
range is the type of value.</p>
      <p>These were some Data Properties created for the
Person class, and are automatically applied to the
subclasses of this class: Mjeku and Pacient.
Only specializim (specialization) will be special for the
Mjeku subclass and will not apply to the Pacient.
The figure shows a graph built with OWLViz where it
is clearly seen that the subclasses are linked to their
superclasses according to the IS-A connection.
OWLViz is one of the important functionalities of
Protégé, explained in the Technology Section used.</p>
    </sec>
    <sec id="sec-6">
      <title>6. CONCLUSIONS</title>
      <p>The origin of the challenge of extracting or storing
information dates back to the ancient times of
humanity.</p>
      <p>Using Web Semantic information can be exchanged
more easily through different systems and they can
communicate more efficiently with each other.
Ontology is the best way to structure and model
information.</p>
      <p>In recent years, the development of ontologies has
taken a tremendous shift from the product of artificial
intelligence labs to experts from various fields.
Ontology defines a dictionary for researchers who
want to share information in a field, it includes
definitions that can be interpreted by computers,
definitions of field-based concepts, and links between
them.</p>
      <p>The main reasons and advantages why one might want
to develop an ontology are:
• Sharing knowledge on the same domain.
• To reuse previously built ontologies
• To share domain knowledge from operational
knowledge</p>
    </sec>
    <sec id="sec-7">
      <title>7. REFERENCES</title>
      <p>[Bern98] T. Berners-lee. Semantic Web Road Map,
Oct 1998
[Bern97] Tim Berners-Lee. Realising the Full
Potential of the Web, Dec 1997
[Alq16] A. Alqazzaz. State of the Art of Semantic
Web. International Conference on Industrial
Engineering and Operations Management Detroit,
Michigan, USA, September 23-25, 2016
[Seg,Eva,Tay12] Tobby Segaran, Colin Evans, Jamie
Taylor. Programming the semantic web, 2012
[Dav,Stu,War06] John Davies, Rudi Studer, Paul
Warren. Semantic Web Technologies - Trends and
Research in Ontology-based Systems, 2006
[Gru05] Gruber, Thomas R. "A translation approach
to portable ontology specifications". Knowledge
Acquisition, 2005
[Bor97] W. Borst. Construction of Engineering
Ontologies. PhD thesis, Institute for Telematica and
Information Technology, University of Twente,
Enschede, The Netherlands, 1997
[Stu, Ben, Fen98] R. Studer, R. Benjamins, and D.
Fensel. Knowledge engineering: Principles and
methods. Data &amp; Knowledge Engineering, 1998
[Gen, Nil87] M. R. Genesereth and N. J. Nilsson.
Logical Foundations of Artificial Intelligence.
Morgan Kaufmann, Los Altos, CA, 1987
[Noy, McG] Ontology Development 101: A Guide to
Creating Your First Ontology, Natalya F. Noy and
Deborah L. McGuinness, Stanford University,
Stanford, CA, 94305
[Gua] Formal Ontology and Information Systems,
Nicola Guarino, National Research Council,
LADSEB-CNR, Corso Stati Uniti 4, I-35127 Padova,
Italy</p>
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