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Biomedical subjects

M Stefanelli

Publications and source records attributed to M Stefanelli.

At least 19 recordsLinked to original sources
PubMed1992

A specialized framework for medical diagnostic knowledge-based systems.

For a knowledge-based system (KBS) to exhibit an intelligent behavior, it must be endowed with knowledge enabling it to represent the expert's strategies. The elicitation task is inherently difficult for strategic knowledge, because strategy is often tacit, and, even when it has been made explicit, it is not an easy task to describe it in a form which may be directly translated and implemented into a program. This paper describes a Specialized Framework for Medical Diagnostic Knowledge-Based Systems that can help an expert in the process of building KBSs in a medical domain. The framework is based on an epistemological model of diagnostic reasoning which has proven to be helpful in describing the diagnostic process in terms of the tasks that it is composed of. It allows a straightforward modeling of diagnostic reasoning at the knowledge level by the domain expert, thus helping to convey domain-dependent strategies into the target KBS.

Artificial Intelligence↗
PubMed1991

GAMEES: a probabilistic environment for expert systems.

This paper describes GAMEES (Graphical Modelling Environment for Expert Systems), an interactive graphical environment for building and processing Belief Networks and Influence Diagrams. We review the existing systems designed for analogous purposes, and, after a brief introduction to Belief Networks and Influence Diagrams, we describe the graphical interface, discuss algorithms for probabilistic inference on these networks and illustrate the current implementation of GAMEES. The system has been designed for being integrated within wider expert systems and actually it is part of the Therapy Advisor module within an expert system for the management of anemic patients.

Algorithms↗
PubMed1991

A specialized framework for Medical Diagnostic Knowledge Based Systems.

To have a knowledge based system (KBS) exhibiting an intelligent behavior, it must be endowed even with knowledge able to represent the expert's strategies, other than with domain knowledge. The elicitation task is inherently difficult for strategic knowledge, because strategy is often tacit, and, even when it has been made explicit, it is not an easy task to describe it in a form that may be directly translated and implemented into a program. This paper describes a Specialized Framework for Medical Diagnostic Knowledge Based Systems able to help an expert in the process of building KBSs in a medical domain. The framework is based on an epistemological model of diagnostic reasoning which has proved to be helpful in describing the diagnostic process in terms of the tasks by which it is composed of.

Artificial Intelligence↗
PubMed1990

NEOANEMIA: a knowledge-based system emulating diagnostic reasoning.

Medical diagnosis can be modeled in terms of the classical notions of abduction, deduction, and induction. Abduction is making a preliminary guess that allows one to establish a set of plausible diagnostic hypotheses, followed by deduction for exploring their consequences and induction for testing the hypotheses with available patient data or for planning the acquisition of new data. Such a description of diagnostic reasoning at a knowledge level helps the construction of an expert system by fashioning the adopted expert system building tool to reflect the structure of the problem rather than by fitting the problem to the tool. To this aim, reasoning strategies need to be represented abstractly, separate from medical facts and relations, to make the design more transparent and explainable.

Anemia↗
PubMed1988

A performance evaluation of the expert system ANEMIA.

This paper reports the results of an evaluation study of the current level of performance given by ANEMIA, a knowledge-based consultation system addressing the clinical problem of managing anemic patients. ANEMIA was developed on a mainframe using the AI programming scheme EXPERT and then translated into a version running on a personal computer. At present the system is able to provide assistance in the diagnosis and management of 65 disease entities. After extensive local testing of accuracy, completeness, and consistency of the knowledge base included into ANEMIA, we designed a study to evaluate whether the system is able to appropriately mirror also the reasoning of well-known hematologists other than those who provided the knowledge. We were also interested in testing whether there were conflicting opinions among hematologists. Thus, we designed a validation study in which ANEMIA's performance could be compared with that of six hematologists and the interexpert consensus evaluated. ANEMIA's overall performance was judged acceptable in 87% (26/30) of the cases, while expert evaluators agreed with their colleagues in 90% (27/30) of them. A low interexpert consensus was found: considering the ratings given by different hematologists to the same ANEMIA performance, complete agreement occurred only 47% of the time.

Adult↗
PubMed1979

Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II.

Erythrokinetic parameters were estimated in six patients suffering from congenital dyserythropoietic anaemia type II (CDA II) by means of a mathematical model of iron kinetics. A wide variation in effectiveness of erythroid activity was observed, and a significant negative correlation was found between ineffective erythropoiesis and peripheral haemolysis. In four patients with prominent peripheral haemolysis, splenectomy was carried out. Marked improvement in their clinical condition and in haemoglobin level resulted.

Adolescent↗
PubMed1979

Quantitative evaluation of the mechanisms of the anaemia in heterozygous beta-thalassaemia.

Ferrokinetic studies were carried out in 8 patients with heterozygous beta-thalassaemia with anaemia of varying severity. Effective and ineffective erythropoiesis, mean red cell lifespan and non-erythroid iron turnover were estimated from the experimental data through a mathematical model of iron kinetics. Erythropoietic activity was markedly increased in all patients, but was variably ineffective (from 10 to 74%). A negative correlation (r = 0.855, P less than 0.01) was found between the amount of ineffective erythropoiesis and Hb level. Red cell lifespan was variably shortened and there was a negative correlation between the degree of daily peripheral haemolysis and Hb level (r = 0.733, P less than 0.05). Non-erythroid iron turnover was increased in most patients. The results provide quantitative measurements of the mechanisms responsible for the wide variation of the Hb level in heterozygous beta-thalaeeaemia. Ineffective erythropoiesis seems to be the major reason for the anaemia. Peripheral haemolysis contributes to it, especially in the most severely affected patients. The increased non-erythroid iron turnover may be responsible for the pathology which characterizes heterozygotes in the adult life.

Adolescent↗
PubMed1978

Estimation of ferrokinetic parameters by a mathematical model in patients with primary acquired sideroblastic anaemia.

Ferrokinetic parameters were estimated in eight patients with primary acquired sideroblastic anaemia (PASA) by means of a mathematical model of iron kinetics. Both plasma 59Fe clearance and red cell utilization curves were used to identify the model parameters. The close agreement between experimental and theoretical data proved that the model can describe iron kinetics in sideroblastic anaemia. Ineffective erythropoiesis was found to be major factor in the production of the anaemia. Various degrees and patterns of peripheral haemolysis were observed. The storage iron was always markedly increased and a large non-erythroid iron turnover was calculated in the most severely affected patients. The results are compared with present knowledge of erythropoiesis in PASA.

Aged↗
PubMed1978

Iron kinetics and erythropoiesis in Fanconi's anaemia.

Ferrokinetic studies were carried out in 4 patients with Fanconi's anaemia (FA). Experimental data were analysed by means of a mathematical model of iron kinetics in order to obtain a quantitative assessment of effective and ineffective erythropoietic activity, mean red cell lifespan, and non-erythroid iron turnover. The major pathogenetic mechanism of the anaemia appeared to be relative marrow failure, i.e. a reduction in the proliferative capacity of the erythroid marrow. The role of ineffective erythropoiesis was of minor importance. On the basis of the results obtained both the pathogenesis and the natural course of the disease are discussed.

Adolescent↗
PubMed1978

Kinetics of D-histidine diffusion across rat intestine in vitro.

A five-compartment linear model for diffusion in vitro across rat jejunum has been proposed for the study of the kinetic constants of D-histidine transport. Once preliminary experiments using 2,4-dinitrophenol and L-methionine have proved that D-histidine gives rise to passive transport only, the validity of the model was tested and its parameters estimated through a best-fitting procedure by using experimental data concerning D-histidine transport. D-Histidine diffusion was studied in everted and unreverted loops mounted in an oxygenated bath system. Both mucosa to serosa and seroa to mucosa movements of D-histidine (3-30 mM) were evaluated by measuring chemically the amount of D-histidine transported into intestinal lumen every 5 min for 60 min. Results obtained proved that D-histidine transport in each direction (mucosa to seroa or seroa to mucosa) was dependent-concentration process. Nevertheless different values of gain and time constants were estimated for the transport in the two directions.

Animals↗
PubMed1976

Numerical determination of intestinal membrane diffusing constants by a gradient method.

Optimisation problems arising in the identification of kinetic parameters of intestinal membranes are here considered. The dynamic behaviour of the membrane is described by means of a linear compartmental model. Using optimisation techniques of a gradient type, the intestinal kinetic parameters are identified, minimising a quadratic criterion between experimental data of D-histidine transport and model prediction. Numerical results are reported and their physiological implications discussed. The quantitative assessment of the asymmetry of diffusion constants with respect to diffusion direction seems to be an important result of this work.

Biological Transport↗