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, Intelligent Technologies and Methodologies for Medical Knowledge Engineering Abdel - Badeeh Mohamed Salem Professor of Computer Science, Head of Medical Informatics and Knowledge Engineering Research Unit, Faculty of Computer & Information Sciences Ain Shams University, Cairo, EGYPT. E-mail : [email protected] http://net.shams.edu.eg/27.htm 10th Annual Med‐e‐Tel conference and exhibition, Luxembourg on 18‐20 April 2012. Goal • This talk presents some of the intelligent techniques and methodologies for managing and engineering medical knowledge. • The talk covers the following techniques: (a) case‐based reasoning; (b) data mining with rough sets; and (c) ontological engineering . • Some applications at the BioMedical Informatics and Knowledge Engineering Research Unit (BMIKE) at Ain Shams University are discussed as well. 2 Agenda • General Introduction • Knowledge Engineering Methodologies and Techniques • • • Case‐Based Reasoning (CBR)Methodology • Intelligent Data Mining with Rough Sets • Ontological Engineering Approach Some Applications at MIKE Research Unit at Ain Shams University. • Expert Systems for Heart and Cancer Diseases Diagnosis • Mining patient data to determine thrombosis. • Case‐Based Reasoning for Diagnosis of Cancer Diseases. • Web‐Based Breast Cancer Ontology. Conclusion 3 Intelligent Medical knowledge‐based Systems Intelligent software that performs diagnosis and makes therapy recommendations Ability of inference, reasoning, perception, learning, knowledge based Medical knowledge‐based Systems Intelligent Technologies and Methodologies (Neural Net, Genetic Algorithms, Fuzzy Logic, Rough Sets, CBR) AI Technology (virtual reality, cognitive science. Nuero sciences, biology, computer science, psychology, philosophy, linguistics, engineering, mathematics) Computer Aided Decision Support Tools for young physicians Health care, medical education, Nursing, … 4 Knowledge Engineering KE deals with the development of intelligent information systems in which knowledge and reasoning play pivotal role. Knowledge Acquisition Knowledge Representation Knowledge management Knowledge Discovery Knowledge Engineering Methodologies Knowledge Modelling Knowledge-Based Systems Knowledge Engineering Shells and tools Knowledge Compilation Automated Reasoning Case Based Reasoning Non Monotonic Reasoning Temporal Reasoning Qualitative Reasoning Reasoning under Uncertainty 5 Knowledge Representation Techniques Knowledge = Static Knowledge + Dynamic Knowledge Static Knowledge Dynamic Knowledge (Heuristics Knowledge ) An Expert is one who knows more and more about less and less. (Micholas M. Butler) Alexandria Library (April 2002) Knowledge is Power An Expert is a person who does not have to think, he knows. (Frank L. Wright)) One who now enough to tell others how to … but is too smart to try it himself. (Henry C. Byce) 6 Knowledge Engineering Methodologies Traditional IF‐THEN Rules IF the patient has high fever AND the patient has headache AND the patient has stiff neck THEN treat immediately for meningitis Rules‐of‐Thumb An apple a day keeps the doctor away Fuzzy Rules IF THEN you’re old, you have owned several homes . Rules with certainty factors IF the patient has hay fever, CF = 0.6 THEN prescribe an antihistamine 7 Knowledge Engineering Methodologies 1. Case-Based Reasoning Methodology, CBR • CBR means reasoning from experiences or “old cases” in an effort to: solve problems, critique solutions, explain anomalous situations • CBR is an analogical reasoning method provides both: – A methodology for building knowledge‐based systems – A cognitive model for People. 8 CBR Methodology Case Retrieval & Adaptation Mechanisms Input Problem Specification (New Case) Problem Analysis & Retrieval Case Comparison & Matching Case‐Memory Solution New Case • One of the primary goals of CBR systems is to find the most similar, or most relevant, cases for new input problems. • New generations of CBR based knowledge systems: ‐ Uses the CBR methodology as an inference technique. ‐ Uses an extensive past cases as a knowledge structure ‐ Solves new problems by adapting solutions of similar problems. • The effectiveness of CBRS depend on the quality and quantity of cases in a case 9 memory. Knowledge Engineering Tasks in CBR Systems In order to implement a CBRS, we had to provide answers to the following set of questions (adapted from Slade, 1991) •What constitutes a case and what are its attributes ? • How is it represented ? • How is indexing done ? What are the case similarity metrics ? • What is the retrieval strategy ? What constitutes a relevant case ? • How can old solutions be adapted ? What are the modification rules ? • How does memory change over time ? Kolodner J., Case Based Reasoning, Morgan Kaufman, 1993. 10 Data Mining and Knowledge Discovery Technology Knowledge discovery in Databases (KDD) process and Data Mining (DM) aim to extract useful information and discover some hidden patterns and new rules from huge amount of databases, which statistical approaches cannot discover. Statistics Database Technology AI Technology Data Mining Machine Learning 11 Producing Knowledge with Intelligent Data mining approach Interpreting Mined Patterns Creating a target data set Removing noise and handling missing data fields Data Reduction and Finding useful features Tasks and techniques Acting on the Discovered Knowledge 12 The Data Mining Tasks DM is the process of using historical databases to improve subsequent decision making. Maps (classifies) a data item into One of several predefined classes Seeks to identify a finite set of categories (Clusters) to describe the data Classification Clustering Sequence Modeling sequential data Analysis Finding a compact description for a subset of data Summarization Data Mining Tasks Regression Link Analysis Models Determination of Originate from standard regression analysis; construct a linear or nonlinear function relationships (dependencies) between fields in a database 13 Data Mining Techniques Support Vector Machines Neural Networks Fuzzy Logic Data Mining Techniques Case Based Learning Rough Sets Genetic Algorithms Association rule mining Decision Trees Popular Data Mining Algorithms and Techniques 14 Data Mining Task Data Mining Algorithm & Technique Classification Neural Networks Support Vector Machine Decision Trees Genetic Algorithms Rule induction Clustering K‐means Regression and prediction Support Vector Machine Decision Trees Rule induction, NN Association and Link Analysis (finding correlation between items in a dataset) Association Rule Mining Summarization Multivariate Visualization 15 Ontological Engineering • The term “ontology” is inherited from philosophy, in which it is a branch of metaphysics concerned with the nature of being. • In AI, ontology can be defined as a common vocabulary for describing a domain that can be used by humans as well as computer applications. • Ontologies have a range of potential benefits, e.g, – – – – Sharing of information across information systems. Enabling reuse of knowledge and management. Robust knowledge representation technique. Providing intelligent and personalized researcher support. 16 Types of Ontologies Describe very general concepts, e.g. space, time, event, which are independent of a particular problem or domain. Describe the vocabulary related to a generic task or activity (Biology, (diagnosing, medicine, selling, eductaion, teaching, sports). football). Describe concepts depending on a particular domain and task. (It is a particular knowledge base) Describe the vocabulary related to a generic domain 17 Technical Aspects of Ontological Engineering 1. Methodologies for the design and evaluation of ontologies. 2. Development of tools to support ontology design and evaluation. 3. Development and integration of new ontologies. 4. Ontology Validation 5. Ontology evolution ( compare versions of ontologies ). 6. Ontology Mapping and Merging. Abdel‐Badeeh M.Salem, Marco Alfonse. “Ontological Engineering in Medicine”. Medical Informatics Workshop, ACM Third International Conference on Intelligent Computing and Information Systems, Cairo, Egypt, PP 59‐74, 2007. 18 Medical Informatics and Knowledge Engineering Research Unit Computer Science Department Faculty of Computer and Information Sciences Ain-Shams University 19 Research Directions at BioMedical Informatics and Knowledge Engineering Research Unit Brain (Tumor Diagnosis) Dr. Safaa (Tumor Detection, MRI) Heba (EEG Biometrics, Identification) Wael Heart (Expert System, Diagnosis) Dr. Bassant, Dr. Rania (ECG Biometrics, Identification) Manal Liver Cancer (Ontology) Marco Viral Hepatitis (Ontology) Galal Lung Cancer (Ontology) Marco Breast Cancer (Ontology ) Marco (Expert System) Dr. Bassant Thrombosis (Data Mining, Rough Set) Dr. Abeer, Dr. Safia 20 Case Study 1: Case-Based Expert System for Diagnosis of Cancer Diseases • Cancer is a group of more than 200 different diseases. • Cancer occurs when cells become abnormal and keep dividing and forming either benign or malignant tumors. • Cancer has initial signs or symptoms if any is observed, the patient should perform complete blood count and other clinical examinations. • To specify cancer type, patient need to perform special lab-tests. 21 Knowledge Acquisition and Representation Cancer Symptoms Bleeding Indigestion Lump Hoarseness Types Clinical examinations Imaging … X-rays Lump ... Lung cancer Urine tests Liver cancer Radionuclide Blood Tests Staging Jaundice Liver symptoms Weakness Blood vomiting Encephalopathy … Tests Direct Bilibrubin Treatments … SI S3 S2 … Liver Transplantation 22 Total Bilibrubin SGPT S4 Example of liver cancer case of old Egyptian women: Patient: 65-years old, female, not working, with nausea and vomiting. Medical history: cancer head of pancreas Physical Exam: tender hepatomgaly liver, large amount of inflammatory about 3 liters, multiple liver pyogenic abcesses and large pancreatic head mass. Laboratory findings: total bilrubin 1.3 mg/dl, direct bilrubin 0.4 mg/dl, sgot (ast) 28 IU/L. sgpt (alt) 26 IU/L. 23 Architecture of the hybrid ES for cancer diagnosis User Interface Cairo Cancer Institute, CCI Querying: Case symptoms Lab tests analysis CBR Model Case Memory Case Retrieval similarity matches Output: Inference Diagnostic case RB Model Rule based inference System Benefits: 1- Aids the young physicians to check their diagnosis 2- Can be used as learning tool to increase the knowledge capabilities for medical students. 24 Case Study 2: ES for Diagnosis of Heart Diseases Stable Angina Pectoris Unstable angina pectoris Acute Myocardial Infarction Subacute bacterial Endocarditis Right Sided Heart Failure Silent Myocardial Infarction Acute Rheumatic Fever Pericarditis with Effusion Aortic Incompetence Pulmonary Hypertension Types of Heart Diseases Heart disease is a vital health care problem affecting millions of people. Essential Hypertension Secondary Hypertension Viral Pericarditis Restrictive Cardiomyopath Dilated Cardiomyopathy Audtry Pericarditis Pulmonary Embolism Constrictive Pericarditis Adhesive Pericarditis Mitral Incompetence Hypertrophic Cardiomyopathy Aortic Stenosis Left Sided Heart Failure Mitral Stenosis 25 1- Rules–Based Version • The knowledge was gathered from expert doctors in: EL-Maadii Military Egyptian Hospital, User Interface Egyptian Health Insurance Institute, The Inference Engine: Rule-Based Reasoning Medical Books and Resources. • The system has been tested for 13 real experiments (patients). • The results have shown 77 % Knowledge Base 24 facts 65 Rules for 24 Heart diseases accuracy in estimating the right conclusion. 26 2- Case-Based Version: • The knowledge is represented in the form of frames. • Case-memory contains knowledge for 4 heart diseases namely: - mitral stenosis - left-sided heart failure - stable angina pectoris - essential hypertension. Case Attributes Case 1 Case 2 Case 3 Case 4….. Age 62 41 69 67 Sex M F M M Coughexertional √ √ √ Dyspnea √ √ √ Palpitation √ √ √ . . . . Coughpulmonary oedema √ 27 System’s Technical features: • For case retrieval, we have developed two algorithms; nearestneighbor and induction algorithm Implemented in Visual Prolog. • It has trained set of 42 cases for Egyptian cardiac patients • Each case contains 33 significant attributes resulted from the statistical analysis performed to 110 cases. • The system has been tested for 13 real cases. • Results have shown 95% accuracy in estimating the correct results for using nearest neighbor and 54% in case of induction algorithm. 28 System's Benefits: 1. serves as doctor diagnostic assistant 2. support the learning for the undergraduate and postgraduate young physicians. 3. gives an appropriate diagnosis for the presented symptoms, signs and investigations done to a cardiac patient with the corresponding certainty factor. 29 Case Study 3: Mining patient data to determine thrombosis diseases using rough sets Main advantages of rough set theory • Deals with vagueness data and uncertainty. • Deals with reasoning from imprecise data. • Used to develop a method for discovering relationships in data • Provides a powerful foundation to reveal and discover important structures in data and to classify complex objects. • Do not need any preliminary or additional information about data. • Concerned with three basics: granularity of knowledge, approximation of sets and data mining • very useful in banking, practice, e.g. in medicine, pharmacology, engineering, financial and market analysis. Z.Pawlak, “Rough Sets: Theoretical Aspects of Reasoning About Data”, Kluwer, 1991 30 The data was made through “Discovery Challenge Competition”, organized as part of the 3rd European Conference on Principals and Practice of KDD in Prague, 1999 (20 MB). Some of the Discovered Rules R1. When ANA_Pattern is equal to “S” or “P” or "S, P” this implies that the increasing possibility of thrombosis where when it is empty the possibility decrease. R2. When Diagnosis=" " this implies the decreasing possibility of suffering from thrombosis. R3. When the values of the three measures of coagulation KCT or RVVT equal to empty or "-" it implies decreasing the possibility of suffering from thrombosis, but when the values are "+" the possibility increases. R4. When symptoms ="CNS inpus" or "CNS inpus (headache)", "CNS susp" all patients have thrombosis of value 2. R5. When symptoms ="any thing else" all patients have thrombosis of value 1. R6. When the value of total protein increases it implies the decrease possibility of thrombosis. System’s Benefits • Helps young physicians to predict the thrombosis disease. • Predictive rules to determine thrombosis disease • Search for patterns specific/sensitive to thrombosis disease. 31 Case Study 4: Using Ontological Engineering for Developing Web-Based Lung Cancer Ontology Lung cancer, like all cancers, results from an abnormality in the cell, the body's basic unit of life. Abdel‐Badeeh M. Salem, Marco Alfonse, Building Web‐Based Lung Cancer Ontology, The International Journal of Soft Computing Applications, ISSN: 1453‐2277 Issue 2, PP 5‐14, 2008. 32 Developing Steps 1. Organizing and scoping: establishes the objectives and requirements. The scope defines the boundaries of the ontology. 2. Data collection: the raw data needed for ontology development is acquired. 3. Data analysis: the ontology is extracted from the results of data collection. 1. The objects of interest in the domain are listed, followed by identification of objects on the boundaries of the ontology. 2. Relations between objects can be identified . 3. Adding instances to the ontology. 4. Initial ontology development: a preliminary ( i.e. classes, relations and properties). ontology is developed 5. Ontology refinement : the initial development is iteratively refined. 33 Semantic Net Knowledge Representation of Lung Cancer 34 Initial Ontology Development • In this ontology we have 4 main superclasses People which has the subclasses; male and female. • Medical _Interventions which has subclasses; Treatment, Staging and Diagnosis. • Disease which has subclass cancer which has subclass; lung_cancers. • Disease_attributes which has subclasses; Causes,Disease_stage, Pathological_category, Staging_systems and Symptoms. • The lung cancer ontology was encoded in OWL‐DL format using the Protégé‐ OWL editing environment. 35 Conclusion • Intelligent technologies and methodologies provide approaches, techniques, and tools that can help solving diagnostic and prognostic problems in a variety of medical domains. • The development of robust intelligent medical knowledge based systems is a very difficult and complex process that raises a lot of technological and research challenges that have to be addressed in an interdisciplinary way. • Medical knowledge based systems can benefit from systematic knowledge engineering and structure using techniques from Artificial Intelligence. • The web based of such systems can enhance the online medical diagnosis, education/ learning/training processes. 36 Future Directions 1. Using Behavioral Biometrics technology to eLearning user authentication / identification. This technology is based on the user data of ECG and EEG bio‐signals (Brain Computer Interface). 2. Genetic algorithms thrombosis disease. 3. Visualization algorithms for medical data mining 4. Data Mining Techniques in Gene Expressions. 5. Intelligent Algorithms for Personal Authentication using Palm Vein. 6. Visualization algorithms for Orthopedic Surgery. 7. Intelligent Systems for Detecting Brain Tumors from Brain Magnetic Reasoning Imaging (MRI). classifier for predicting 37 International Conference on Intelligent Computing & Information Systems, ICICIS – Ain Shams, Cairo, Egypt 1. First, June 2002 (67 technical papers – 11 keynote speakers) Workshop on Artificial Intelligence in Medicine 2. Second , March 2005 (60 technical papers – 14 keynote speakers) 3. Third, March 2007 (77 technical papers – 18 keynote speakers) Workshop on Medical Informatics 4. Fourth, March 19‐22, 2009 (90 technical papers – 18 keynote speakers) 1st International Workshop on Medical Informatics and e‐Health. 1st Intelligent and Assistive Technologies for People with Disabilities 5. Fifth, June 30‐July 3, 2011 (40 technical papers – 3 keynote speakers) 2nd International Workshop on Medical Informatics and e‐Health. 2nd Intelligent and Assistive Technologies for People with Disabilities sixth, June 2013 38 Thank You