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    <journal-meta>
      <journal-title-group>
        <journal-title>Eye</journal-title>
      </journal-title-group>
    </journal-meta>
    <article-meta>
      <title-group>
        <article-title>An ontology for Age-Related Macular Degeneration using ophthalmologists and language models</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Adrian Groza</string-name>
          <email>adrian.groza@cs.utcluj.ro</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Anca Marginean</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Simona Delia Nicoara</string-name>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Department of Computer Science, Technical University of Cluj-Napoca</institution>
          ,
          <addr-line>400114 Cluj-Napoca</addr-line>
          ,
          <country country="RO">Romania</country>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Department of Ophthalmology, “Iuliu Hatieganu” University of Medicine and Pharmacy</institution>
          ,
          <addr-line>400012 Cluj-Napoca</addr-line>
          ,
          <country country="RO">Romania</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2021</year>
      </pub-date>
      <volume>35</volume>
      <issue>2021</issue>
      <abstract>
        <p>We aim to support monitoring of the current guidelines and scientific evidence in the management of Age-Related Macular Degeneration (AMD) in order to augment retinal specialists to develop a clinically oriented and consensual protocol for therapeutic approaches for AMD. First, we are engineering an ontology for AMD retinal condition using information from literature, related medical ontologies and domain knowledge from ophthalmologists. Second, we augment the knowledge engineer capabilities to populate and enrich the ontology using structured knowledge extracted from medical literature with the GPT-3 language model. Third, we perform reasoning to signal to the ophthalmologist diferences or inconsistencies among diferent clinical studies, protocols or therapeutic approaches.</p>
      </abstract>
      <kwd-group>
        <kwd>medical ontologies</kwd>
        <kwd>age-related macular degeneration</kwd>
        <kwd>conflict detection</kwd>
        <kwd>reasoning</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>-</title>
      <p>∃ℎ. ≥ 125
∃ℎ. ≥ 63 ⊓ ∃ℎ. ≥ 63
, respectively    ≡   ⊓ ∃ℎ. ≤ 63
,     ≡   ⊓
One issue is that these axioms do not always correspond to clinical practice. For instance an
eye with a drusen measured by an AI algorithm at 124μm (i.e. slightly below the 125μm limit)
is classified according to the definition as a</p>
      <p>ophthalmologist still treats the disease as an     
, and hence an</p>
      <p>, but the
. To map the clinical practice
we are also considering axioms in Fuzzy Description Logic. The AMD ontology reuses
concepts and relations from BioVerbNet (https://github.com/cambridgeltl/bioverbnet) and medical
ontologies, e.g.: (i)   ⊑  ℎ    ℎ ⊑    ⊑  
 ℎ    ℎ ⊑  ℎ     ⊑    ⊑</p>
      <p>
        Second, we enrich the AMD ontology with structured data automatically extracted from
scientific studies [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ] and clinical trials. Recent advances in Natural Language Understanding
can complement the studies conducted by humans on reviewing literature and recent scientific
evidence (e.g. [2]). Consider querying a learned model like GPT-3 (https://bit.ly/3e3icZQ) in
Table 2). The used prompt was: ”A table summarizing the associations of morphological
features with disease activity”. One the one hand we were fascinated on the easiness to obtain
such structured data. On the other hand, in line with G. Marcus (https://cacm.acm.org/blogs/
SWAT4HCLS 2023: The 14th International Conference on Semantic Web Applications and Tools for Health Care and Life
LGOBE
Sciences
Sample of definitions and classifications scales for AMD
 

 
 
 ℎ
 ℎ
      </p>
      <p>Epidemiological classification (Wisconsin grading)
≡  ⊓ ∃ℎ.( ⊔ ⊔</p>
      <p>)
≡    ⊔ ℎ
≡
≡
≡
≡
∀ℎ.⊥ ⊓ ∀ℎ.¬ 
∀ℎ.  ⊓ ∀ℎ.¬ 
∀ℎ.¬ ⊔ ∀ℎ.¬
∃ℎ.¬ ⊔ (= 1)ℎ.</p>
    </sec>
    <sec id="sec-2">
      <title>Basic clinical classification</title>
    </sec>
    <sec id="sec-3">
      <title>AREDS simplified severity scale points</title>
      <p>Extracting structured information on morphological features using language models (i.e. GPT3)</p>
    </sec>
    <sec id="sec-4">
      <title>Review</title>
      <p>Mowatt et al. (2014)</p>
    </sec>
    <sec id="sec-5">
      <title>Schmid-Erfurth et al. (2016)</title>
    </sec>
    <sec id="sec-6">
      <title>Schmid-Erfurth et al. (2016)</title>
    </sec>
    <sec id="sec-7">
      <title>Schmid-Erfurth et al. (2016) OCT CRT IRF</title>
    </sec>
    <sec id="sec-8">
      <title>Feature</title>
      <p>Association with disease activity
unlikely to be cost-efective for diagnosis/monitoring
inferior prognostic biomarker for guiding retreatment
negatively associated with VA
associated with superior visual benefits and a lower rate
of progression towards atrophy
blog-cacm/267674-ais-jurassic-park-moment/fulltext), we are aware of the risks that such
models to propagate misinformation. Our stance is that it is easier for the human agent to
verify the information in Table 2 and to annotate it with provenance data, instead of manually
collecting it from literature. From the technical perspective, the burden is how to feed the GPT-3
with relevant ”prompts” (e.g. based on BioVerbNet) to get relevant information. In line with
C. Baquero (https://bit.ly/3ElW1J7, prompt design was critical for querying of such language
models. The job of Prompt Designer may become relevant in populating ontologies.</p>
      <p>Third, we apply reasoning to signal diferences and inconsistencies among the knowledge
within the ontology. These diferences reflect the current understanding of the AMD disease:
quantitative vs. qualitative fluid assessments, intraretinal fluid vs. subretinal fluid (SRF),
exudative vs. nonexudtive fluid. For instance, for SRF both negative and positive but also
no-association have been reported [2]. Moreover, heterogeneity of therapeutic approaches has
been increased in the context of personalised care. This heterogeneity rises the question of
inconsistent information, detected in our approach by the Racer reasoning tool.</p>
    </sec>
  </body>
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</article>