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MSc Medical Informatics
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F i g u r e 2.
A fundamental question
Friedman CP JAMIA 2009;16(2):169-170
Charles P. Friedman
- 1. What is Artificial Intelligence?
- 2. History of AI in Medicine
- 3. Machine Learning
- 4. Where are we now?
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3 July 1959, Volume 130, Number 3366
Reasoning Foundations
4 Medical
Diagnos
Symbolic logic, probability, and value the, aid our understanding of how physicians reas, Robert S. Ledley and Lee B. Lus
The purpose of this article is to ana- lyze the complicated reasoning processes inherent in medical diagnosis. The im- portance of this problem has received recent emphasis by the increasing inter- est in the use of electronic computers as an aid to medical diagnostic processes (1, 2). Before computers can be used effectively for such purposes, however, we need to know more about how the physician makes a medical diagnosis. If a physician is asked, "How do you make a medical diagnosis?" his explana- tion of the process might be as follows. "First, I obtain the case facts from the patient's history, physical examination, and laboratory tests. Second, I evaluate the relative importance of the different signs and symptoms. Some of the data may be of first-order importance and
- ther data of less importance. Third, to
make a differential diagnosis I list all the diseases which the specific case can reasonably resemble. Then I exclude one disease after another from the list until it becomes apparent that the case can be
is a part-time member
- f the staff
- f the National
Academy of Sciences-National Re- search Council, Washington, D.C., where he is principal investigator
and Mono- graph
Computers in Biology and Medicine. He is on the faculty
engineering department
George Washington University and mathematician at the Data Process- ing Systems Division
Bureau
Standards.
- Dr. Lusted is radiologist
and associate professor at the University
School of Medicine, Rochester, N.Y. 3 JULY 1959
fitted into a definite dis< that it may be one of sev eases, or else that its exa be determined." This, greatly simplified expl process of diagnosis, fc might also comment th; patient he often has a "j case." This "feeling," a explain, may be a sumrr pressions concerning th seem to fit together, th( bility, general appearant sion, and so forth; anl might add that such th ence the considered di; can doubt that complex esses are involved in m
cause it helps the physic
itself demands another ing process. This complex reasoni be integrated by the p large store of possible widely believed that er tial diagnosis result r from errors of omission
- sources. For instance, coi
rors of omission, Clend{ inger (3) say: "How
1
incompleteness I do not know that, in my jude brilliant diagnosticians
SCIENCE
ance are the ones who do remember and consider the most possibilities." Computers are especially suited to help the physician collect and process clinical information and remind him of diagnoses which he may have
Ilooked. In many cases computers may be as simple as a set of hand-sorted cards,
s*
whereas in other cases the use of a large- 1] S scale digital electronic computer may be
- indicated. There are other ways in which
computers may serve the physician, and
some of these are suggested in this paper. For example, medical students might
find the computer an important aid in learning the methods of differential di- _ted
- agnosis. But to use the computer thus
we must understand how the physician makes a medical
brings us to the subject of our investiga- ease category, or tion: the reasoning foundations of med- ,eral possible dis- ical diagnosis and treatment. ,ct nature cannot Medical diagnosis involves processes
is a that can be systematically analyzed, as lanation
well as those characterized as "intan- ,r the physician gible." For instance, the reasoning foun- at after seeing a dations of medical diagnostic procedures Feeling about the are precisely analyzable and can be sepa- .Ithough hard to rated from certain considered intangible nation of his im- judgments and value decisions. Such a e way the data separation has several important advan- e patient's relia-
- tages. First, systematization
- f the rea-
ce, facial expres- soning processes enables the physician to d the physician define more clearly the intangibles in-
volved and therefore enables him to
concentrate full attention on the more : reasoning proc- difficult judgments. Second, since the aking a medical reasoning processes are susceptible to is important be- precise analysis, errors from this source :ian to choose an can be eliminated. Of course, the meth- ecision which in
- ds presented in this paper are not de-
complex reason- signed for immediate, direct application; rather, they serve as a suggested basis ing process must from which more practical procedures )hysician with a can be developed. However, a consider- diseases. It is ation of foundations is always essential ^rors in differen- as the first step in the development
nore frequently practical applications. than from other The reasoning foundations of medical ncerning such er- diagnosis and treatment can be most ening and Hash- precisely investigated and described in to guard against terms
certain mathematical tech- t know. But I do niques. Before material to illustrate gment, the most these techniques was selected, many of
the New England Journal of Medicine
9
Turing test
Towards the Simulation of Clinical Cognition
Taking a Present Illness by Computer
STEPHEN G. PAUKER, M.D.
JEROME P. KASSIRER, M.D. WILLIAM B. SCHWARTZ, M.D.t Boston, Massachusetts From the Clinical Decision-Making Group, Project MAC, Massachusetts Institute of Technology, Cambridge, Massachusetts: the Department of Medicine, Tufts University School of Medicine, and ths New England Medical Center Hospital, Boston,
- Massachusetts. This research was supported in
part by the Health Resources Administration, U.S. Public Health Service, under Grant 1 ROl MB 00107-01 from the Bureau of Health Manpower and under Grant HS 0091 l-01 from the National Center for Health Services Research. Requests for reprints shoukl be addressed to Dr. Stephen G. Pauker, New England Medical Center Hospital, 17 1 Harrison Avenue, Boston, Massachusetts 02 111. Manuscript accepted September 30,1975.
l Present address: Program for Health Man-
agement, Baylor College of Medicine, Houston, Texas. + The research reported in this paper was ac- complished while Dr. Schwartz was a Macy Fac- ulty Scholar, 1974-1975. Remarkably little is known about the cognitive processes which are employed in the solution of clinical problems. This paucity of information is probably accounted for in large part by the lack of suitable analytic tools for the study of the physician’s thought pro-
- cesses. Here we report on the use of the computer as a laboratory
for the study of clinical cognition. Our experimental approach has consisted of several elements. First, cognitive insights gained from the study of clinicians’ behavior were used to develop a computer program designed to take the present illness of a patient with edema. The program was then tested with a series of prototypical cases, and the present illnesses gen- erated by the computer were compared to those taken by the clln- icians in our group. Discrepant behavior on the part of the program was taken as a stimulus for further refinement of the evolving cog- nitive theory of the present illness. Corresponding refinements were made in the program, and the process of testing and revision was continued until the program’s behavior closely resembled that of the clinicians. The advances in computer science that made this effort possible include “goal-directed” programmlng, pattern-matching and a large associative memory, all of which are products of research in the field known as “artificial intelligence.” The information used by the program is organized in a highly connected set of associations which is used to guide such activities as checking the validity of facts, generating and testing hypotheses, and constructing a coherent picture of the patient. As the program pursues its interrelated goals
- f information gathering and diagnosis, it uses knowledge of diseases
and pathophysiology, as well as “common sense,” to dynamically assemble many small problem-solving strategies into an integrated history-taking process. We suggest that the present experimental approach will facilitate accomplishment of the long-term goal of disseminating clinical expertise via the computer. During the last decade there has been increasing interest in the use
- f the computer as an aid to both clinical diagnosis and management.
Programs have been written that can carry out a review of systems [ 11, guide ,in the evaluation of acid-base disorders [2,3], recommend the appropriate dose of digitalis [4,5], and weigh the risks and benefits
- f alternative modes of treatment [6]. Some of these programs have
June 1976 The American Journal of Medicine Volume 60 981
TAKING A PRESENT ILLNESS BY COMPUTER-PAUKER ET AL
The present program contains over 70 frames related to some 20 different diseases and to a variety of clinical and physiologic states that are associated with these diseases. Frames typically contain five to ten findings, three or four exclusionary rules, ten to twenty scoring parameters and five to ten links to other frames in the
NAME: NEPHROTIC SYNDROME IS-A-TYPE-OF: CLINICAL STATE LOW SERUM ALBUMIN CONCENTRATION FINDING: HEAVY PROTEINURIA FINDING: FINDING: >5GRAMS/24HRS PROTEINURIA FINDING: MASSIVE. SYMMETRICAL EDEMA FINDING: EITHER FACIAL OR PERI-ORBITAL. AND SYMMETRICAL EDEMA FINDING: HIGH SERUM CHOLESTEROL CONCENTRATION URINE LIPIDS PRESENT FINDING: MUST-NOT-HAVE: PROTEINURIA ABSENT IS-SUFFICIENT: BOTH MASSIVE EDEMA AND >5GRAMS124HRS PROTEINURIA MAIOR-SCORING:
SERUM
ALBUMIN CONCENTRATION LOW: 1.0 HIGH: -1.0 PROTEINURIA: >SCRAMS/24HRS: 1.0 HEAVY: 0.5 EITHER ABSENT OR LIGHT: -1.0 EDEMA: MASSIVE AND SYMMETRICAL: LO NOT MASSIVE BUT SYMMETRICAL: 0.3 ERYTHEMATOUS:
ASYMMETRICAL: .0.5 ABSENT: -1.0 MINOR-SCORING: SERUM CHOLESTEROL CONCENTRATION: HIGH: 1.0 NOT HIGH: -1.0 URINE LIPIDS: PRESENT: 1.0 ABSENT -0.5 MAY-BE-CAUSED-BY: ACUTE GLOMERULONEPHRITIS.
CHRONIC CLOMERULONEPHRIl’IS, NEPHROTOXIC DRUGS. INSECT BITE, IDIOPATHIC NEPHROTIC SYNDROME, SYSTEMIC LUPUS ERYTHEMATOSUS. OR
DIABETES MELLITUS MAY-BE-COMPLICATEDBY: HYPOVOLEMIA CELLULITIS
MAY-BE-CAUSE-OF: SODIUM RETENTION DIFFERENTIAL-DIAGNOSIS: IF NECK VEINS ELEVATED,
CONSIDER: CONSTRICTIVE PERICARDITIS
IF ASCITES PRESENT, CONSIDER: CIRRHOSIS IF PULMONARY EMBOLI PRESENT. CONSIDER: RENAL VEIN THROMBOSIS
Figure 7. A typical “frame. ” Information about a disease, a physiologic state, etc., is stored in the form of a “frame” within the long-term memory. Included in the typical frame, as shown here for nephrotic syndrome, are descriptions
typical findings, numerical factors to be used in scoring, and links to other frames (e.g., “may-be-caused-by, ‘I “‘may- be-complicated-by”). There are also rules for excluding (“must-not-have’) and satisfying (“is-sufficient ‘I) the fit of the frame to the case at hand. For further details, see text. network. Because the frames are presented to the computer as separate descriptions, which the program links into the network, the addition
to the system is a relatively simple task. The Operation of the Program. In this section, we shall consider in detail the individual processes by which the program combines patient-specific data and knowledge from the associative memory to produce the behavior shown in the illustrative
the program alternates between asking questions to gain new in- formation and integrating this new information into a developing picture
A typical cycle con- sists of (1) characterizing findings, (2) seeking advice bn how to proceed, (3) generating hypotheses, (4) testing hypotheses and (5) selecting questions. Characterizing findings: After being presented with the chief complaint, the supervisor retrieves from the associative memory a procedure that characterizes that complaint in detail. This procedure is a flow chart that follows a “set” pattern in eliciting such features as the location, severity and duration
The program later uses this detailed description
complaint to limit the number of hypotheses that it will later have to consider. Seeking advice on how to proceed: One of the most important features
is its ability to assemble small history-taking strategies into an over-all approach which is tailored to the case at hand. This ability is critically dependent
propriate advice about efficient methods for the ex- ploration and organization
- f the case. Here we shall
present three examples
use of this facility. (1) Advice can be given which alerts the supervisor to ask one or more questions that will “zero in” on the presenting problem and thus, at the stage of hypothesis generation (vida infra), limit the number
possibilities which must be evaluated. (2) Advice can be given which guides the-supervisor in its evaluation
- f the validity of information
that is being presented. Such validity checks can be of several types. First, the program might point out that a finding itself is clearly in error, e.g., a weight gain of 50 pounds in 48
it might note that new information is inconsistent with other facts known about the patient, e.g., the presence
- f red cell casts in the absence
- f
hematuria. Finally, it might indicate that a new finding contradicts a conclusion already drawn about the case.
l
(3) Advice can be given which alerts the supervisor to errors that might stem from a patient’s misinterpre- tation of a particular sign or symptom. For example, if
l The latter two kinds of advice
would not be provided in the initial cycle which deals with the chief complaint because, at such an early stage, the short-term memory would not contain any detailed in- formation about the patient. 988 June 1978 The American Journal of Medicine Volume 80
Rule-based expert systems
STATUS RULE: STABLE HEMODYNAMICS IF HEART RATE is ACCEPTABLE PULSE RATE does NOT CHANGE by 20 beats/min. in 15 min. MEAN ART BL PRESS is ACCEPTABLE MEAN ART BL PRESS does NOT CHANGE by 15 torr in 15 min. SYST BL PRESS is ACCEPTABLE THEN the HEMODYNAMICS are STABLE