Supporting The Understanding Of Rare Disease Diagnostics With Questionnaire Based Data Analysis And Computer Aided Classifier Fusion
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| 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.
| Author | : Mani T. Valarmathi |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 152 |
| Release | : 2021-09-22 |
| Genre | : Medical |
| ISBN | : 1839629304 |
A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
| Author | : Emily Alsentzer |
| Publisher | : |
| Total Pages | : 0 |
| Release | : 2022 |
| Genre | : |
| ISBN | : |
Rare diseases affect 300-400 million people worldwide, yet each disease has very low prevalence, affecting no more than 50 per 100,000 individuals. Many patients with rare genetic conditions remain undiagnosed due to clinicians' lack of experience with the individual diseases and the considerable heterogeneity of clinical presentations. Machine-assisted diagnosis offers the opportunity to shorten the diagnostic delays for rare disease patients. Recent advances in deep learning have considerably improved the accuracy of medical diagnosis. However, much of the success thus far is contingent on the availability of large annotated datasets containing thousands of examples per condition for training machine learning models. Machine-assisted diagnosis of rare diseases presents unique challenges; approaches must learn from limited data and extrapolate beyond training distribution to novel genetic conditions. The goal of this thesis is to develop few shot learning methods that can overcome the data limitations of deep learning approaches to diagnose patients with rare genetic conditions. Motivated by the need to infuse external knowledge into models, we first develop novel graph neural network methods for subgraph representation learning that encode how subgraphs (e.g., a set of patient phenotypes) relate to a larger knowledge graph. To address the issue of data scarcity, we next develop a framework for simulating realistic rare disease patients with novel genetic conditions and demonstrate how these simulated patients are similar to real rare disease patients. Finally, we leverage these advances to develop shepherd, a few shot method for diagnosis of patients with rare genetic conditions in the Undiagnosed Diseases Network. SHEPHERD reasons over biomedical knowledge via geometric deep learning to learn generalizable representations of rare disease patients. shepherd can operate at multiple facets throughout the rare disease diagnosis process: performing causal gene discovery, retrieving "patients-like-me" with the same causal gene or disease, and providing interpretable characterizations of novel disease presentations. Our work illustrates the potential for deep learning methods to rapidly accelerate molecular diagnosis and shorten the diagnostic odyssey for rare disease patients.
| Author | : Shein-Chung Chow |
| Publisher | : CRC Press |
| Total Pages | : 286 |
| Release | : 2020-11-11 |
| Genre | : Mathematics |
| ISBN | : 1000208338 |
In the United States, a rare disease is defined by the Orphan Drug Act as a disorder or condition that affects fewer than 200,000 persons. For the approval of "orphan" drug products for rare diseases, the traditional approach of power analysis for sample size calculation is not feasible because there are only limited number of subjects available for clinical trials. In this case, innovative approaches are needed for providing substantial evidence meeting the same standards for statistical assurance as drugs used to treat common conditions. Innovative Methods for Rare Disease Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives. Key Features: Reviews critical issues (e.g., endpoint/margin selection, sample size requirements, and complex innovative design). Provides better understanding of statistical concepts and methods which may be used in regulatory review and approval. Clarifies controversial statistical issues in regulatory review and approval accurately and reliably. Makes recommendations to evaluate rare diseases regulatory submissions. Proposes innovative study designs and statistical methods for rare diseases drug development, including n-of-1 trial design, adaptive trial design, and master protocols like platform trials. Provides insight regarding current regulatory guidance on rare diseases drug development like gene therapy.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 442 |
| Release | : 2011-04-03 |
| Genre | : Medical |
| ISBN | : 0309158060 |
Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
| Author | : Zhan He Wu |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 250 |
| Release | : 2020-03-25 |
| Genre | : Medical |
| ISBN | : 1838800239 |
Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark in the field of rare diseases has revolutionized modern human medicine with exciting and advancing developments of the genomic era over the last two decades. Patients with rare diseases have been receiving increasing benefits in care and life quality improvements than ever before. This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. It is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.
| Author | : Rajeev K. Bali |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 307 |
| Release | : 2013-10-21 |
| Genre | : Technology & Engineering |
| ISBN | : 3642386431 |
This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.
| Author | : Susanne Blöß |
| Publisher | : |
| Total Pages | : 0 |
| Release | : 2017 |
| Genre | : |
| ISBN | : |
Abstract: Background Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted. Methods A two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected. Results 166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe's disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an 'odyssey' of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed. Conclusion There is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for diagnostic support in the future
| Author | : Wanda Ramirez |
| Publisher | : |
| Total Pages | : 0 |
| Release | : 2017 |
| Genre | : Rare diseases |
| ISBN | : 9781536108040 |
This book provides new research insights on rare diseases. Chapter One reviews the use of patients' registries as a key tool in rare disease management. Chapter Two discusses the worldwide experience with cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) for patients with rare abdominal and pelvic neoplasms with peritoneal metastases that should be evaluated for long-term benefit. Chapter Three explores the contribution of psychology-related research on Congenital Anomalies (CAs) from the analysis of international scientific literature.
| Author | : Jess G. Thoene |
| Publisher | : Dowden Publishing |
| Total Pages | : 1056 |
| Release | : 1995 |
| Genre | : Medical |
| ISBN | : |
This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the opportunity for early diagnosis & treatment. Special features include: * A full color atlas of visual clues, cross referenced to disease listings. * Thirteen separate specialty sections with an expert overview to introduce each section. Eminent clinicians from the outstanding research centers in rare diseases give you the current status of research & practical approaches to diagnosis & therapy of the rare diseases in that specialty. * Full reference to more than 250 orphan drugs. Each drug is cross referenced to the appropriate disease description. * Clear language for the Layperson. Though written for physicians, the descriptions of diseases, symptoms & treatments are clear & understandable for patients, educators & others outside the medical profession. Each disease description provides symptomatology, etiology, affected population & a comparison of related disorders. Each disease description contains a list of other resources to consult: voluntary agencies, units of the National Institutes of Health, research centers around the country, etc. Addresses & phone numbers are provided in a central reference. Library Journal: "...PHYSICIAN'S GUIDE...is recommended for medical collections & public libraries with consumer health collections."
