Supporting the Understanding of Rare Disease Diagnostics with Questionnaire-Based Data Analysis and Computer-Aided Classifier Fusion

Supporting the Understanding of Rare Disease Diagnostics with Questionnaire-Based Data Analysis and Computer-Aided Classifier Fusion
Author: Xiaowei Zhang
Publisher: Logos Verlag Berlin GmbH
Total Pages: 180
Release: 2023-06-21
Genre: Computers
ISBN: 3832556680

Orphan diseases pose diagnostic challenges due to complex pathologies, limited epidemiological data, and clinical experience. The development of artificial intelligence and machine learning methods has the potential to enhance the accuracy of decision support systems, improving diagnosis outcomes for rare disease patients. This research aims to create a repository for characterizing rare diseases by collecting past experiences of diagnosed patients, reducing gaps in symptom interpretation. This interdisciplinary study, in collaboration with medical experts, has resulted in a computer-aided diagnostic support system utilizing statistical analysis and machine learning algorithms. The system incorporates disease profile aggregation, pattern recognition, and information comparison. An interactive data visualization platform has been established to promote intuitive understanding and evaluate system diagnosis with graphics-based disease feature comparison. It supports medical practitioners during the diagnostic process by presenting visually appealing information. The patient-oriented inquiry mechanism efficiently reduces unnecessary questions while providing a reliable diagnosis based on probability. By combining statistical learning with the visualization module, the system can discover disease-related symptom patterns, offering new means for diagnosing rare disorders. The supplementary diagnosis prediction mechanism can be applied effectively to analyze different groups in surveys with closed-ended questions.

A Systematic Survey of Computer-Aided Diagnosis in Medicine: Past and Present Developments

A Systematic Survey of Computer-Aided Diagnosis in Medicine: Past and Present Developments
Author: Juri Yanase
Publisher: Infinite Study
Total Pages: 51
Release:
Genre: Mathematics
ISBN:

Computer-aided diagnosis (CAD) in medicine is the result of a large amount of effort expended in the interface of medicine and computer science. As some CAD systems in medicine try to emulate the diagnostic decision-making process of medical experts, they can be considered as expert systems in medicine.

A Nationwide Framework for Surveillance of Cardiovascular and Chronic Lung Diseases

A Nationwide Framework for Surveillance of Cardiovascular and Chronic Lung Diseases
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 200
Release: 2011-08-26
Genre: Medical
ISBN: 0309212197

Chronic diseases are common and costly, yet they are also among the most preventable health problems. Comprehensive and accurate disease surveillance systems are needed to implement successful efforts which will reduce the burden of chronic diseases on the U.S. population. A number of sources of surveillance data-including population surveys, cohort studies, disease registries, administrative health data, and vital statistics-contribute critical information about chronic disease. But no central surveillance system provides the information needed to analyze how chronic disease impacts the U.S. population, to identify public health priorities, or to track the progress of preventive efforts. A Nationwide Framework for Surveillance of Cardiovascular and Chronic Lung Diseases outlines a conceptual framework for building a national chronic disease surveillance system focused primarily on cardiovascular and chronic lung diseases. This system should be capable of providing data on disparities in incidence and prevalence of the diseases by race, ethnicity, socioeconomic status, and geographic region, along with data on disease risk factors, clinical care delivery, and functional health outcomes. This coordinated surveillance system is needed to integrate and expand existing information across the multiple levels of decision making in order to generate actionable, timely knowledge for a range of stakeholders at the local, state or regional, and national levels. The recommendations presented in A Nationwide Framework for Surveillance of Cardiovascular and Chronic Lung Diseases focus on data collection, resource allocation, monitoring activities, and implementation. The report also recommends that systems evolve along with new knowledge about emerging risk factors, advancing technologies, and new understanding of the basis for disease. This report will inform decision-making among federal health agencies, especially the Department of Health and Human Services; public health and clinical practitioners; non-governmental organizations; and policy makers, among others.

Bulletin of the Atomic Scientists

Bulletin of the Atomic Scientists
Author:
Publisher:
Total Pages: 116
Release: 1970-06
Genre:
ISBN:

The Bulletin of the Atomic Scientists is the premier public resource on scientific and technological developments that impact global security. Founded by Manhattan Project Scientists, the Bulletin's iconic "Doomsday Clock" stimulates solutions for a safer world.

Human Genetics and Genomics

Human Genetics and Genomics
Author: Bruce R. Korf
Publisher: John Wiley & Sons
Total Pages: 280
Release: 2012-11-19
Genre: Medical
ISBN: 1118537661

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Visual Computing for Medicine

Visual Computing for Medicine
Author: Bernhard Preim
Publisher: Newnes
Total Pages: 1017
Release: 2013-11-07
Genre: Computers
ISBN: 0124159796

Visual Computing for Medicine, Second Edition, offers cutting-edge visualization techniques and their applications in medical diagnosis, education, and treatment. The book includes algorithms, applications, and ideas on achieving reliability of results and clinical evaluation of the techniques covered. Preim and Botha illustrate visualization techniques from research, but also cover the information required to solve practical clinical problems. They base the book on several years of combined teaching and research experience. This new edition includes six new chapters on treatment planning, guidance and training; an updated appendix on software support for visual computing for medicine; and a new global structure that better classifies and explains the major lines of work in the field. - Complete guide to visual computing in medicine, fully revamped and updated with new developments in the field - Illustrated in full color - Includes a companion website offering additional content for professors, source code, algorithms, tutorials, videos, exercises, lessons, and more

Registries for Evaluating Patient Outcomes

Registries for Evaluating Patient Outcomes
Author: Agency for Healthcare Research and Quality/AHRQ
Publisher: Government Printing Office
Total Pages: 385
Release: 2014-04-01
Genre: Medical
ISBN: 1587634333

This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.