Relevant bibliographies by topics / Definition of disease

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Definition of disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 20 February 2023

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Journal articles on the topic "Definition of disease"

1

Vedantham, Suresh. "Definition of postthrombotic disease." Journal of Vascular Surgery 52, no. 5 (November 2010): 58S—62S. http://dx.doi.org/10.1016/j.jvs.2010.05.128.

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Anderson, J. M., and B. M. Hubbard. "DEFINITION OF ALZHEIMER'S DISEASE." Lancet 325, no. 8425 (February 1985): 408. http://dx.doi.org/10.1016/s0140-6736(85)91434-5.

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Nathan, Steven D., Scott D. Barnett, Christopher S. King, Steeve Provencher, Joan A. Barbera, Jean Pastre, Oksana A. Shlobin, and Werner Seeger. "Impact of the new definition for pulmonary hypertension in patients with lung disease: an analysis of the United Network for Organ Sharing database." Pulmonary Circulation 11, no. 2 (March 30, 2021): 204589402199996. http://dx.doi.org/10.1177/2045894021999960.

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The implications of the recent change in the definition of pulmonary hypertension on epidemiology and outcomes are not known. We sought to determine the percentage of patients with the two most common lung diseases that would be reclassified regarding the presence/absence of pulmonary hypertension with the revised definition. A query of the United Network for Organ Sharing database was performed. The percentage of patients meeting the current and previous definition of pulmonary hypertension was described. Outcomes of patients stratified by the current and previous definitions were compared. There were 15,563 patients with right heart catheterization data analyzed. Pulmonary hypertension was more prevalent in both chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis under the new definition at 52.4% versus 82.4%, and 47.6% versus 73.6%, respectively. “Pre-capillary” pulmonary hypertension by the new definition was lower at 28.1% for chronic obstructive pulmonary disease and 36.8% for idiopathic pulmonary fibrosis. Of the patients with pulmonary hypertension by the old definition, 23.9% of chronic obstructive pulmonary disease patients and 18.7% of idiopathic pulmonary fibrosis patients were not classified as pulmonary hypertension by the new definition. Conversely, 15.9% of chronic obstructive pulmonary disease patients and 15.1% of idiopathic pulmonary fibrosis patients who did not meet diagnostic criteria for pulmonary hypertension by the old definition did have pulmonary hypertension by the new definition. Patients in both disease categories had shorter transplant-free waitlist survival in the presence of pulmonary hypertension by both the new and old definitions. There was a trend toward the new definition of pre-capillary pulmonary hypertension better discerning outcomes compared to the old definition of pulmonary hypertension in idiopathic pulmonary fibrosis patients. Most patients with advanced lung disease who are listed for lung transplantation have pulmonary hypertension, but fewer have pre-capillary pulmonary hypertension than pulmonary hypertension by the old definition. Both the old and new definition of precapillary pulmonary hypertension appear to discern outcomes among the two groups of lung disease analyzed, with some evidence to suggest that the new definition performs slightly better in the idiopathic pulmonary fibrosis population.
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Chan, D. J., and B. Donovan. "What's in a word? Case definitions in sexual health medicine." International Journal of STD & AIDS 16, no. 2 (February 1, 2005): 91–94. http://dx.doi.org/10.1258/0956462053057657.

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In clinical medicine, establishing case definitions for diseases, including sexually transmitted infections, is often an inexact and arbitrary exercise. The definition is affected by the intended purpose, be it for disease surveillance, clinical care, service provision, research, or funding of services. A case must be defined precisely in order to monitor disease trends, detect outbreaks, and evaluate the effectiveness of interventions. The definition ensures consistent measurement of disease, specificity of reporting, and improves data standardization through time and across regions. The definition itself is one of the criteria used to evaluate the quality of a surveillance system. Designing definitions is fraught with problems relating to appropriate diagnostic criteria, sensitivity and specificity, context and relevance to current knowledge, and/or clinical practice. There is also the problem of reaching a consensus, especially for complex syndromes such as pelvic inflammatory disease.
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Salam, Ranabir. "Expanding the definition of noncommunicable disease." Journal of Social Health and Diabetes 04, no. 02 (December 2016): 067–70. http://dx.doi.org/10.4103/2321-0656.187990.

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AbstractNoncommunicable diseases (NCDs) are responsible for 68% of all deaths in 2012. Eighty-two percent of these “premature” deaths occurred in low- and middle-income countries. Most of the NCD deaths are caused by cardiovascular diseases, cancer, diabetes, chronic respiratory diseases, mental health, road traffic accidents, and violence. The World Health Organization, several governments, and nongovernmental organizations have taken up numerous programs to curb the menace of NCDs. However, the present programs do not include some common chronic medical conditions which also lead to considerable morbidity and mortality. The present review highlights three important chronic disorders: chronic kidney disease (CKD), liver disease (cirrhosis and nonalcoholic fatty liver), and thyroid diseases. CKD is an internationally recognized public health problem affecting 5–10% of the world population. CKD resulted in 956,000 deaths in 2013 and proposes them to be included in the world wide accepted definition of NCD. Cirrhosis and chronic liver disease were the tenth leading cause of death for men and the twelfth for women in the United States in 2001. Moreover, 4–10% of the global population have thyroid dysfunction. This mini-review proposes to expand the definition of NCD to include these three major illnesses.
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6

Williams, Hywel. "Disease definition and measures of disease frequency." Journal of the American Academy of Dermatology 45, no. 1 (July 2001): S33—S36. http://dx.doi.org/10.1067/mjd.2001.117019.

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7

Matthews, Prof., Bryan. "Definition of Creutzfeldt-Jakob Disease." Neuroepidemiology 7, no. 2 (1988): 53–55. http://dx.doi.org/10.1159/000110136.

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8

Calne, Donald. "A definition of Parkinson's disease." Parkinsonism & Related Disorders 11 (June 2005): S39—S40. http://dx.doi.org/10.1016/j.parkreldis.2005.01.008.

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9

Jennings, Charles D. "Definition of occupational hand disease." Journal of Hand Surgery 20, no. 6 (November 1995): 1058. http://dx.doi.org/10.1016/s0363-5023(05)80161-3.

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10

Gluckman, P. D. "Evolving a definition of disease." Archives of Disease in Childhood 92, no. 12 (December 1, 2007): 1053–54. http://dx.doi.org/10.1136/adc.2007.126318.

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Dissertations / Theses on the topic "Definition of disease"

1

George, Charles Raymond Pax. "Disease Explicated And Disease Defined." Thesis, The University of Sydney, 2005. http://hdl.handle.net/2123/654.

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Disease is ubiquitous. Disease afflicts humans. It afflicts animals. It afflicts plants. People refer to disease in their everyday conversation. Newspapers comment upon it. Parliaments enact legislation regarding it. Novelists write about it. Artists depict it. Physicians, veterinary surgeons and agriculturalists seek to combat it. Insurance companies offer reimbursement against it. Anthropologists study it. Philosophers debate its nature, and dictionaries define it. Disease looms large in human consciousness. One might presume that, since disease is so important in daily life, human beings would know exactly what they mean by it. Most people seem to believe instinctively that they understand the nature of disease, and that their ideas about it coincide with other people's ideas. The definition of disease therefore arouses little controversy in everyday conversation. People use the word disease as readily as they use the words spade, or table or nose. They suggest, when they joke that somebody calls a spade a spade, that the nature of the implement used to dig the garden is so obvious that it requires no further definition. Similarly with a table or a nose. They might debate how many legs a table must have, but-regardless of the answer-rarely deny that it is a table; whilst every human must surely know what a nose is. This high level of agreement about so many commonly used terms perhaps creates an assumption that the meaning of disease is equally obvious and requires no further analysis. Is this, however, really the case? Disease is a somewhat less concrete phenomenon than is a spade or a table or a nose. Its existence, most would agree, is incontrovertible, but its nature is less clear. It is something that seems to befall people and animals and plants. It rarely serves any useful purpose. It often carries dire implications. It is something that most of us would prefer not to have, but rarely succeed in avoiding. It commonly comes unannounced and at inconvenient times. It usually causes distress, but not always. It can have a fatal outcome. Some people appear more prone to it that others. It sometimes sweeps through whole populations producing social devastation, but its manifestations vary. Some diseases affect a person's whole body, others merely a part of the body; some affect some parts of the body, others other parts. Some diseases only affect humans, whereas others affect both humans and animals. Some spread from animals to humans, others from humans to humans, and others still do not appear to spread at all. Some diseases affect plants, and few that affect plants seem to affect humans, but some humans can acquire diseases when they come into contact with plants that appear to have no diseases. Any reasonable analysis of the nature of disease must account for all these aspects and many others also. The nature of disease is a topic that has attracted the attention of physicians, scientists and philosophers over millennia. The close association that existed between medicine and philosophy in the classical Egyptian, Palestinian and Greek eras ensured that scholars who flourished in those societies examined the nature of disease. Comparable developments occurred in classical Indian and Chinese civilizations. The natural philosophers of Renaissance and post-Renaissance Europe divided into competing schools of thought over the nature of disease. More recent years have witnessed an enormous flourishing of physicians, pathologists, and agriculturalists who study aspects of disease that relate to their individual disciplines. Most of these researchers have, however, examined ever-narrower aspects of specific diseases-such as manifestations, mechanisms and causes-rather than the generic nature of the phenomenon. Some contemporary philosophers, on the other hand, have become interested in general aspects of the topic. They have proposed a number of novel ideas and reached some stimulating conclusions, although they can hardly yet claim to have reached a consensus. This lack of unanimity presumably implies that the issues involved require closer analysis if a formulation is to emerge that most of them can accept. The object of the present thesis is to undertake such an analysis. It will start by outlining in this introduction the general background to the topic. It will then detail the more noteworthy of previously proposed theories about the nature of this phenomenon, classifying them according to their most prominent components, and assessing their several strengths and weaknesses. It will next discuss the specific philosophical issues of definition, causation, and explication in the biomedical context, before suggesting a comprehensive, but succinct, definition that acknowledges many older views about disease, encompasses current usage, and provides a theoretical base from which to work into the future. It will finally test the strengths and weaknesses of that definition to account for observed phenomena and to accommodate some former definitions.
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2

George, Charles Raymond Pax. "Disease Explicated And Disease Defined." University of Sydney. History and Philosophy of Science, 2005. http://hdl.handle.net/2123/654.

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Disease is ubiquitous. Disease afflicts humans. It afflicts animals. It afflicts plants. People refer to disease in their everyday conversation. Newspapers comment upon it. Parliaments enact legislation regarding it. Novelists write about it. Artists depict it. Physicians, veterinary surgeons and agriculturalists seek to combat it. Insurance companies offer reimbursement against it. Anthropologists study it. Philosophers debate its nature, and dictionaries define it. Disease looms large in human consciousness. One might presume that, since disease is so important in daily life, human beings would know exactly what they mean by it. Most people seem to believe instinctively that they understand the nature of disease, and that their ideas about it coincide with other people�s ideas. The definition of disease therefore arouses little controversy in everyday conversation. People use the word disease as readily as they use the words spade, or table or nose. They suggest, when they joke that somebody calls a spade a spade, that the nature of the implement used to dig the garden is so obvious that it requires no further definition. Similarly with a table or a nose. They might debate how many legs a table must have, but�regardless of the answer�rarely deny that it is a table; whilst every human must surely know what a nose is. This high level of agreement about so many commonly used terms perhaps creates an assumption that the meaning of disease is equally obvious and requires no further analysis. Is this, however, really the case? Disease is a somewhat less concrete phenomenon than is a spade or a table or a nose. Its existence, most would agree, is incontrovertible, but its nature is less clear. It is something that seems to befall people and animals and plants. It rarely serves any useful purpose. It often carries dire implications. It is something that most of us would prefer not to have, but rarely succeed in avoiding. It commonly comes unannounced and at inconvenient times. It usually causes distress, but not always. It can have a fatal outcome. Some people appear more prone to it that others. It sometimes sweeps through whole populations producing social devastation, but its manifestations vary. Some diseases affect a person�s whole body, others merely a part of the body; some affect some parts of the body, others other parts. Some diseases only affect humans, whereas others affect both humans and animals. Some spread from animals to humans, others from humans to humans, and others still do not appear to spread at all. Some diseases affect plants, and few that affect plants seem to affect humans, but some humans can acquire diseases when they come into contact with plants that appear to have no diseases. Any reasonable analysis of the nature of disease must account for all these aspects and many others also. The nature of disease is a topic that has attracted the attention of physicians, scientists and philosophers over millennia. The close association that existed between medicine and philosophy in the classical Egyptian, Palestinian and Greek eras ensured that scholars who flourished in those societies examined the nature of disease. Comparable developments occurred in classical Indian and Chinese civilizations. The natural philosophers of Renaissance and post-Renaissance Europe divided into competing schools of thought over the nature of disease. More recent years have witnessed an enormous flourishing of physicians, pathologists, and agriculturalists who study aspects of disease that relate to their individual disciplines. Most of these researchers have, however, examined ever-narrower aspects of specific diseases�such as manifestations, mechanisms and causes�rather than the generic nature of the phenomenon. Some contemporary philosophers, on the other hand, have become interested in general aspects of the topic. They have proposed a number of novel ideas and reached some stimulating conclusions, although they can hardly yet claim to have reached a consensus. This lack of unanimity presumably implies that the issues involved require closer analysis if a formulation is to emerge that most of them can accept. The object of the present thesis is to undertake such an analysis. It will start by outlining in this introduction the general background to the topic. It will then detail the more noteworthy of previously proposed theories about the nature of this phenomenon, classifying them according to their most prominent components, and assessing their several strengths and weaknesses. It will next discuss the specific philosophical issues of definition, causation, and explication in the biomedical context, before suggesting a comprehensive, but succinct, definition that acknowledges many older views about disease, encompasses current usage, and provides a theoretical base from which to work into the future. It will finally test the strengths and weaknesses of that definition to account for observed phenomena and to accommodate some former definitions.
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3

Pandya, Mital. "Definition of Bovine Leukocyte Antigen Diversity and Peptide Binding Profiles for Epitope Discovery." ScholarWorks @ UVM, 2016. http://scholarworks.uvm.edu/graddis/474.

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The goal of the work presented herein was to further our understanding of Bovine Leukocyte Antigen (BoLA) class I diversity of Holstein cattle and develop tools to measure class I restricted T cell responses to intracellular pathogens such as foot and mouth disease virus (FMDV) following vaccination. BoLA is a highly polymorphic gene region that allows the bovine immune system to differentiate pathogen-infected cells from healthy cells. Immune surveillance by CD8+ T cells plays an important role in clearing viral infections. These CD8+ T cells recognize BoLA class I molecules bearing epitopes (antigenic peptides) of intracellular origin in their peptide binding groove. Polymorphisms in the peptide binding region of class I molecules determine affinity of peptide binding and stability during antigen presentation. Different antigen peptide motifs are associated with specific genetic sequences of class I molecules. In order to better understand the adaptive immune response mediated by BoLA molecules, technologies from human medicine such as high-throughput sequencing, biochemical affinity and stability assays, tetramers and IFN-γ ELIspot assays could be applied. Therefore, it was hypothesized that we can translate these technologies from the study of human T cell responses to the study of cattle immunity. The first objective was to establish a comprehensive method for genotyping BoLA of Holstein cattle by using Illumina MiSeq, Sanger sequencing and polymerase chain reaction sequence-specific primers (PCR-SSP) (See Chapter 2). This is an important first step in order to study the BoLA restricted immune responses following FMDV vaccination. The second objective was to define the FMDV capsid protein peptide repertoire bound by BoLA class I molecules using bioinformatics and biochemical affinity and stability assays to facilitate the identification of T cell epitopes (See Chapter 3). The third objective was to demonstrate clonal T cell expansion for specific epitope polypeptides using ex-vivo multi-color flow cytometric MHC-epitope complexes (tetramers), followed by IFN-γ production measured by an ELIspot assay to quantify and define the antigen specific response of Holstein cattle to FMDV vaccination (see Chapter 4). In this, my dissertation studies aimed to improve our understanding of the BoLA class I restricted T-cell responses to candidate FMDV vaccines in Holstein cattle. In this manner, my research will improve animal health through the production of assays for characterizing the bovine immune response to intracellular pathogens and enhance vaccine design leading to improved biologicals to protect cattle from devastating infectious diseases.
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4

Jolly, Ann. "Sexually transmitted disease core group membership in Manitoba, strategies for definition, and description of risk markers." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape17/PQDD_0025/NQ31994.pdf.

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5

Mengucci, Carlo. "WISDoM: Wishart Distributed Matrices Multiple Order classification. Definition and application to fMRI resting state data." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2018. http://amslaurea.unibo.it/15865/.

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In this work we introduce the Wishart Distributed Matrices Multiple Order Classification (WISDoM) method. The WISDoM Classification method consists of a pipeline for single feature analysis, supervised learning,cross validation and classification for any problems whose elements can be tied to a symmetric positive-definite matrix representation. The general idea is for informations about properties of a certain system contained in a symmetric positive-definite matrix representation (i.e covariance and correlation matrices) to be extracted by modelling an estimated distribution for the expected classes of a given problem. The application to fMRI data classification and clustering processing follows naturally: the WISDoM classification method has been tested on the ADNI2 (Alzheimer's Disease Neuroimaging Initiative) database. The goal was to achieve good classification performances between Alzheimer's Disease diagnosed patients (AD) and Normal Control (NC) subjects, while retaining informations on which features were the most informative decision-wise. In our work, the informations about topological properties contained in ADNI2 functional correlation matrices are extracted by modelling an estimated Wishart distribution for the expected diagnostical groups AD and NC, and allowed a complete separation between the two groups.
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6

Stavropoulos-Kalinoglou, Antonios. "Obesity in chronic inflammation using rheumatoid arthritis as a model : definition, significance, and effects of physical activity & lifestyle." Thesis, University of Wolverhampton, 2009. http://hdl.handle.net/2436/69603.

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Background: Inflammation is the natural reaction of the body to an antigen. In some conditions, this reaction continues even after the elimination of the antigen, entering a chronic stage; it targets normal cells of the body and causes extensive damage. Rheumatoid arthritis (RA) is such a condition. It associates with significant metabolic alterations that lead to changes in body composition and especially body fat (BF) increases. In the general population, increased body fat (i.e. obesity) associates with a number of health disorders such as systemic low grade inflammation and a significantly increased risk for cardiovascular disease (CVD). Both effects of obesity could have detrimental effects in RA. Increased inflammation could worsen disease activity while obesity could further increase the already high CVD risk in RA. However, obesity in RA has attracted minimal scientific attention. Aims: The present project aimed to: 1) assess whether the existing measures of adiposity are able to identify the changes in body composition of RA patients, 2) if necessary develop RA-specific measures of adiposity, 3) investigate the association of obesity with disease characteristics and CVD profile of the patients, 4) and identify factors that might affect body weight and composition in these patients. Methods: A total of 1167 volunteers were assessed. Of them 43 suffered from osteoarthritis and 82 were healthy controls. These, together with 516 RA patients were used in the first study. Their body mass index (BMI), BF, and disease characteristics were assessed. In the second, third, fourth and fifth studies a separate set of 400 RA patients was assessed. In addition to the above assessments, their cardiovascular profile and more detailed disease characteristics were obtained. For the final study, 126 RA patients were assessed for all the above and also data on their physical activity levels and their diet were collected. Results: Assessments of adiposity for the general population are not valid for RA patients. Thus, we proposed RA-specific measures of adiposity. These are able to better identify RA patients with increased BF. We were also able to find associations between obesity and disease activity. Both underweight and obese RA patients had more active disease compared to normal-weight patients. Obese patients had significantly worse CVD profile compared to normal-weight. The newly devised measures of adiposity were able to identify those at increased risk. However, not all obese individuals were unhealthy and not all normal-weight healthy. Among our patients we were able to identify subtypes of obesity with distinct phenotypic characteristics that warrant special attention. Finally, we were able to identify factors that influence body weight and composition. Cigarette smoking protected against obesity while its cessation associated with increased adiposity. Physical activity was also found to be protective against obesity while diet or inflammation of the disease failed to produce any significant results. Conclusions: Obesity is a significant threat to the health of RA patients. The measures of adiposity developed herein should be used to identify obese RA patients. Physical activity seems like the sole mode for effective weight management in this population. Health and exercise professionals should actively encourage their patients to exercise as much as they can. This study has created more questions than it answered; further research in the association of obesity and inflammation, as well as in ways to treat it, is essential.
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Oliver, Elizabeth L. "Vision and disease in the Napoleonic description de l'Egypte (1809-1828) : the constraints of French intellectual imperialism and the roots of Egyptian self-definition." [Tampa, Fla] : University of South Florida, 2006. http://purl.fcla.edu/usf/dc/et/SFE0001658.

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Oliver, Elizabeth L. "Vision and Disease in the Napoleonic Description de l’Egypte (1809-1828): The Constraints of French Intellectual Imperialism and the Roots of Egyptian Self-Definition." Scholar Commons, 2006. http://scholarcommons.usf.edu/etd/3794.

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This study analyzes the travel conventions manifest in the engravings of the thirty-volume Description de l’Egypte produced as a result of the Napoleonic campaign to Egypt in 1798 and published between 1809 and 1828. The first chapter examines the discourse established on Egypt in travelogues throughout the eighteenth century prior to the invasion of the country. I argue that the perceptions developed around the country did not stem from actual experience, but from political and economic motivations that cast Egypt in a light favorable for occupation. I examine how this perception was challenged during the collapse of distance between the French and Egyptians in the process of colonial encounter. Drawing upon medical records and proclamations of the French medical team in Egypt, I examine a specific epidemic known as ophthalmia that led to swollen, irritated eyes and eventual blindness throughout the French army in Egypt. While it is actually caused by Chlamydia, in every appearance it makes in French medical records throughout the occupation, the disease was blamed on the climate, sunlight, and air specific to the land of Egypt. As a result, I argue that the Description’s hyper-real contrasts of light and dark and amplified decay in its representations of the monuments residing in Egypt’s ravaging climate are determined by the manner vision itself was altered by the epidemic of ophthalmia. I then contend that there exists a metaphorical parallel between the decaying pharaonic monuments in the Description and the perceived decay of modern Egyptian society that are linked by misconceptions of Egypt’s climate. I conclude that the effect of Egypt’s climate believed to destroy both physical monuments and physiological disposition was used as evidence to support the larger agenda of French imperialism that justified colonization of Egypt. Lastly, this study examines how Egyptians counteracted the negative discourse of their race by appropriating symbols of their country used in European representations and altering them to develop a national identity. Tracing the time period from French occupation through British colonization, Egyptians were able to galvanize resistance while still working within the confines of colonial control.
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Nothnagel, Michael. "The definition of multilocus haplotype blocks and common diseases." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=973611448.

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Nothnagel, Michael. "The definition of multilocus haplotype blocks and common diseases." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2005. http://dx.doi.org/10.18452/15174.

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Bisherige Methoden der Haplotyp-Block-Definition zielen entweder auf abwesende Rekombinationsereignisse oder eine effiziente Beschreibung genomischer Variation. Die vorliegende Arbeit definiert Blöcke von Single Nucleotide Polymorphisms (SNP) als Gebiete erhöhten Kopplungsungleichgewichtes (LD). Für dieses Ziel wird ein neues, entropie-basiertes Maß für LD zwischen multiplen Markern/Loci (Normalized Entropy Difference) entwickelt und als eine Multilocus-Erweiterung des paarweisen Maßes r2 charakterisiert. Ein zugehöriger Algorithmus für die Block-Definition wird vorgeschlagen. Seine Evaluierung an einem Datensatz des menschlichen Chromosoms 12 vom Internationalen Haplotype Map Projekt zeigt die Nützlichkeit der abgeleiteten Blöcke in Hinblick auf verschiedene Eigenschaften, einschließlich ihrer chromosomalen Coverage und der Anzahl sowie des Anteils der häufigen Block-Haplotypen. Der wesentliche Einfluß der SNP-Dichte auf die zu entdeckenden LD- und Blockstrukturen wird demonstriert. Der Erfolg von Assoziationsstudien in komplexen Erkrankungen mit Block-Haplotypen als multiallelischen Markern wird davon abhängen, ob die Common Variants/Common Diseases (CV/CD) Hypothese für solche Erkrankungen erfüllt ist.
Current approaches to haplotype block definition target either absent recombination events or the efficient description of genomic variation. This thesis aims to define blocks of single nucleotide polymorphisms (SNP) as areas of elevated linkage disequilibrium (LD). To this end, a new entropy-based measure for LD between multiple markers/loci, the Normalized Entropy Difference, is developed and is characterized as a multilocus extension of the pairwise measure r2. A corresponding algorithm for the block definition is proposed. Its evaluation on a data set of human chromosome 12 from the International Haplotype Map project proves the usefulness of the derived blocks with respect to several features, including their chromosomal coverage and the number and portion of common block haplotypes. The critical role of the SNP density for detectable LD and block structure is demonstrated. The success of association studies in common diseases with block haplotypes serving as multi-allelic markers will depend on whether the Common Variants/Common Diseases (CV/CD) hypothesis holds true for those diseases.
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Books on the topic "Definition of disease"

1

Prescribing by numbers: Drugs and the definition of disease. Baltimore: Johns Hopkins University Press, 2007.

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Office, International Labour. List of occupational diseases: Identification and recognition of occupational diseases : criteria for incorporating diseases in the ILO list of occupational diseases. 2nd ed. Geneva: International Labour Office, 2010.

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List of occupational diseases: Identification and recognition of occupational diseases : criteria for incorporating diseases in the ILO list of occupational diseases. 2nd ed. Geneva: International Labour Office, 2010.

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Nima, Rezaei, Notarangelo Luigi, and Aghamohammadi Asghar, eds. Primary immunodeficiency diseases: Definition, diagnosis, and management. Berlin: Springer, 2008.

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Commission, North Carolina Environmental Management. Report of proceedings for proposed rule amendments for the purpose of deeming certain decontamination wastewater permitted: 15 A NCAC 2H .0103 definition of terms 15 A NCAC 2H .0106 filing applications. Raleigh, N.C.]: State of North Carolina, Dept. of Environment and Natural Resources, Environmental Management Commission, 2002.

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United States. Congress. House. A bill to amend title XVIII of the Social Security Act to expand the definition of homebound for purposes of receiving home health services under the Medicare program to allow Medicare beneficiaries to attend adult day care programs for treatment of Alzheimer's disease and other conditions. Washington, D.C: U.S. G.P.O., 2000.

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Goldberg, Burton. Chronic fatigue, fibromyalgia & Lyme disease: An alternative medicine definitive guide. 2nd ed. Berkeley, Calif: Celestial Arts, 2004.

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P, Holden Una, ed. Neuropsychology and ageing: Definitions, explanations and practical approaches. London: Croom Helm, 1988.

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1926-, Goldberg Burton, and Trivieri Larry 1956-, eds. An alternative medicine definitive guide to chronic fatigue, fibromyalgia, and Lyme disease. 2nd ed. Berkeley, Calif: Celestial Arts, 2004.

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Sick buildings: Definition, diagnosis, and mitigation. Boca Raton: Lewis Publishers, 1995.

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Book chapters on the topic "Definition of disease"

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Suzuki, Jiro. "History and Definition." In Moyamoya Disease, 1–5. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-642-95483-2_1.

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van der Waal, Isaäc. "Introduction, Terminology and Definition, Classification." In Burning Mouth Disease, 1–6. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-71640-0_1.

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Aboyans, Victor. "Polyvascular Disease: Definition, Epidemiology, Relevance." In PanVascular Medicine, 4779–810. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-37078-6_213.

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Hashimoto, Satoru. "Definition of ARDS: Does the Berlin Definition Fit the Clinical Entity and Predict the Outcome?" In Respiratory Disease Series: Diagnostic Tools and Disease Managements, 3–17. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-8371-8_1.

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Targan, S. R. "New IBD markers: definition of disease heterogeneity." In Inflammatory Bowel Disease, 221–26. Dordrecht: Springer Netherlands, 1994. http://dx.doi.org/10.1007/978-94-009-0371-5_22.

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Paneni, Francesco, and Francesco Cosentino. "Epidemiology, Definition, and Diagnosis of Diabetes Mellitus." In Diabetes and Cardiovascular Disease, 3–12. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17762-5_1.

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Aghamohammadzadeh, Reza, Danielle Ormandy, and Anthony M. Heagerty. "Definition and Epidemiology of Arterial Disease." In Arterial Disorders, 3–12. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-14556-3_1.

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Aboyans, Victor. "Polyvascular Disease: Definition, Epidemiology, and Relevance." In PanVascular Medicine, 1–37. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-37393-0_213-1.

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Fuchs, Karl-Hermann. "Definition and Pathophysiology of Gastroesophageal Reflux Disease." In Management of Gastroesophageal Reflux Disease, 1–17. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-48009-7_1.

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Goodwin, J. F. "Cardiomyopathies and specific heart muscle diseases: definition, terminology and classification." In Heart Muscle Disease, 1–5. Dordrecht: Springer Netherlands, 1985. http://dx.doi.org/10.1007/978-94-009-4874-7_1.

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Conference papers on the topic "Definition of disease"

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Sy-Janairo, Marianne Linley, and Juliet Cervantes. "IDDF2020-ABS-0184 Differences of adenoma detection rate (ADR) between high definition colonoscopes – a retrospective cross-sectional study." In Abstracts of the International Digestive Disease Forum (IDDF), 22–23 November 2020, Hong Kong. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2020. http://dx.doi.org/10.1136/gutjnl-2020-iddf.109.

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Lee, ALH, T. Cheung, HY Chung, CTK Ho, TWL Li, PH Li, MY Mok, et al. "12 Validation of a novel definition of low disease activity state in systemic lupus erythematosus." In LUPUS 2017 & ACA 2017, (12th International Congress on SLE &, 7th Asian Congress on Autoimmunity). Lupus Foundation of America, 2017. http://dx.doi.org/10.1136/lupus-2017-000215.12.

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Gudu, T., and R. Ionescu. "FRI0729 Definition of remission and minimal disease activity in psoriatic arthritis: a systematic literature review." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.5813.

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Djunadi, Trie Arni, Youjin Oh, Liam Il-Young Chung, Timothy Hong, Soowon Lee, Zunairah Shah, Joo Hee Park, Sung Mi Yoon, and Young Kwang Chae. "1407 Understanding the definition of hyperprogressive disease (HPD) and its incidence – a new path forward." In SITC 37th Annual Meeting (SITC 2022) Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jitc-2022-sitc2022.1407.

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Gicchino, Maria Francesca, Gabriella Giancane, Alessandra Alongi, Silvia Rosina, Jessica Tibaldi, Marta Mazzoni, Angelo Ravelli, and Alessandro Consolaro. "SAT0501 THE IMPACT OF MORNING STIFFNESS ON THE DEFINITION OF INACTIVE DISEASE IN JUVENILE IDIOPATHIC ARTHRITIS." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.7784.

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de Blasio, Francesca, Luca Scalfi, Paola Alicante, Giulia Miracco Berlingieri, Barbara Bellofiore, and Francesco de Blasio. "Malnutrition and sarcopenia in chronic obstructive pulmonary disease according to the new ESPEN definition and EWGSOP criteria." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa400.

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Barber, Clair, Jon Ward, Scott Elliott, Laurie Lau, Adnan Azim, Kerry Gove, Hitasha Rupani, et al. "Comparison of two published definitions of sputum neutrophilia show clinical measures of disease are more severe in neutrophilic asthma (NA) than non-neutrophilic asthma (NNA) using >40% sputum neutrophils as the definition of disease." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1255.

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Dick, Georgina, Stephen J. Bourke, Carlos Echevarria, and Simon J. Doe. "What is a NICE definition of lung disease in patients with Cystic Fibrosis and its impact on treatment?" In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4621.

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Souza, Milene, Marcio Balthazar, and Mônica Yassuda. "CAN COMPUTERIZED NEUROPSYCHOLOGICAL TESTS BETTER DISCRIMINATE SUBJECTIVE COGNITIVE DECLINE IN ELDERLY?" In XIII Meeting of Researchers on Alzheimer's Disease and Related Disorders. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1980-5764.rpda097.

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Background: Subjects with subjective cognitive decline (SCD) are at higher risk of developing mild cognitive impairment (MCI) and Alzheimer’s dementia (AD). By definition, they perform normally on conventional neuropsychological tests. However, it is unclear whether computerized tests can detect subtle changes in this population. Objective: To compare cognitive performance in conventional and computerized tests of the CANTAB battery in people over 55 years old, divided into three subgroups: Controls, SCD and MCI, according to the NIA-AA 2018 criteria. Methods: We included 64 volunteers: 19 controls, 15 SCD, 30 MCI. Principal Component Analysis (PCA) model was used in both tests and naive bayes classifier were used to distinguish SCD from controls. Results: In conventional tests, variability of 57,17%, differentiating only the MCI. The CANTAB showed a subtle difference in dispersion between SCD and controls, with a variability of 30,12%. Cognitive functions with greater differentiation: episodic visual memory and new learning with variability of 72,65%, visual perception and immediate visual memory 51,95% variability, with similar results between the SCD and MCI groups. Attention and psychomotor speed 23,89%. Sustained attention and psychomotor speed with 71,3%. Adjusted for demographic variables, 52,63% of the SCD were classified as MCI in the computerized test, while the conventional one did not change. Conclusion: Computerized tests seem to be more sensitive in differentiating SCDs from controls, resembling the MCI group.
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Almodovar, Raquel, Juan D. Cañete, Eugenio de Miguel, Jose antonio Pinto Tasende, and Rubén Queiró Silva. "AB0788B RECOMENDATIONS FOR DISEASE ACTIVITY ASSESSMENT AND DEFINITION OF CLINICAL REMISSION IN PSORIATIC ARTHTITIS: A DELPHI-BASED EXPERT CONSENSUS." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.1964.

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Reports on the topic "Definition of disease"

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Daudelin, Francois, Lina Taing, Lucy Chen, Claudia Abreu Lopes, Adeniyi Francis Fagbamigbe, and Hamid Mehmood. Mapping WASH-related disease risk: A review of risk concepts and methods. United Nations University Institute for Water, Environment and Health, December 2021. http://dx.doi.org/10.53328/uxuo4751.

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The report provides a review of how risk is conceived of, modelled, and mapped in studies of infectious water, sanitation, and hygiene (WASH) related diseases. It focuses on spatial epidemiology of cholera, malaria and dengue to offer recommendations for the field of WASH-related disease risk mapping. The report notes a lack of consensus on the definition of disease risk in the literature, which limits the interpretability of the resulting analyses and could affect the quality of the design and direction of public health interventions. In addition, existing risk frameworks that consider disease incidence separately from community vulnerability have conceptual overlap in their components and conflate the probability and severity of disease risk into a single component. The report identifies four methods used to develop risk maps, i) observational, ii) index-based, iii) associative modelling and iv) mechanistic modelling. Observational methods are limited by a lack of historical data sets and their assumption that historical outcomes are representative of current and future risks. The more general index-based methods offer a highly flexible approach based on observed and modelled risks and can be used for partially qualitative or difficult-to-measure indicators, such as socioeconomic vulnerability. For multidimensional risk measures, indices representing different dimensions can be aggregated to form a composite index or be considered jointly without aggregation. The latter approach can distinguish between different types of disease risk such as outbreaks of high frequency/low intensity and low frequency/high intensity. Associative models, including machine learning and artificial intelligence (AI), are commonly used to measure current risk, future risk (short-term for early warning systems) or risk in areas with low data availability, but concerns about bias, privacy, trust, and accountability in algorithms can limit their application. In addition, they typically do not account for gender and demographic variables that allow risk analyses for different vulnerable groups. As an alternative, mechanistic models can be used for similar purposes as well as to create spatial measures of disease transmission efficiency or to model risk outcomes from hypothetical scenarios. Mechanistic models, however, are limited by their inability to capture locally specific transmission dynamics. The report recommends that future WASH-related disease risk mapping research: - Conceptualise risk as a function of the probability and severity of a disease risk event. Probability and severity can be disaggregated into sub-components. For outbreak-prone diseases, probability can be represented by a likelihood component while severity can be disaggregated into transmission and sensitivity sub-components, where sensitivity represents factors affecting health and socioeconomic outcomes of infection. -Employ jointly considered unaggregated indices to map multidimensional risk. Individual indices representing multiple dimensions of risk should be developed using a range of methods to take advantage of their relative strengths. -Develop and apply collaborative approaches with public health officials, development organizations and relevant stakeholders to identify appropriate interventions and priority levels for different types of risk, while ensuring the needs and values of users are met in an ethical and socially responsible manner. -Enhance identification of vulnerable populations by further disaggregating risk estimates and accounting for demographic and behavioural variables and using novel data sources such as big data and citizen science. This review is the first to focus solely on WASH-related disease risk mapping and modelling. The recommendations can be used as a guide for developing spatial epidemiology models in tandem with public health officials and to help detect and develop tailored responses to WASH-related disease outbreaks that meet the needs of vulnerable populations. The report’s main target audience is modellers, public health authorities and partners responsible for co-designing and implementing multi-sectoral health interventions, with a particular emphasis on facilitating the integration of health and WASH services delivery contributing to Sustainable Development Goals (SDG) 3 (good health and well-being) and 6 (clean water and sanitation).
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Zheng, Ruo-xiang, Jia-wei Xu, Bi-yao Jiang, Wei Tang, Chun-li Lu, Xiao-yang Hu, and Jian-ping Liu. Mind-body therapies in traditional Chinese medicine for neuropathic pain: a systematic review of randomized controlled trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, April 2022. http://dx.doi.org/10.37766/inplasy2022.4.0016.

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Review question / Objective: The purpose of this review is to comprehensively evaluate the effectiveness and safety on mind-body therapies of traditional Chinese medicine for neuropathic pain. Condition being studied: According to the definition by the International Association for the Study of Pain (IASP), neuropathic pain is a kind of pain caused by lesions or diseases affecting the somatosensory nervous system. It has brought considerable negative impacts on patients and society. Neuropathic pain is a prevalent disease and can be induced by a variety of clinical conditions such as spinal cord injury (prevalence rate: 53%), induced peripheral neuropathic pain (prevalence rate: 38%), diabetic peripheral neuropathic pain (prevalence rate: 10%-26%), chemotherapy postherpetic neuralgia (3.9-42.0/10,000 people per year), prosopalgia (3-5/10,000 people per year), and so on. However, current recommended medicines for neuropathic pain management could cause dependence and adverse events. Thus, alternatives would be helpful for both patients and clinicians. Mind-body therapy in traditional Chinese medicine (TCM) has a long history in clinical practice for relieving pain and their effectiveness has not been systematically reviewed.The purpose of this review is to comprehensively evaluate the effectiveness and safety on mind-body therapies of traditional Chinese medicine for neuropathic pain.
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Parsons, Helen M., Hamdi I. Abdi, Victoria A. Nelson, Amy M. Claussen, Brittin L. Wagner, Karim T. Sadak, Peter B. Scal, Timothy J. Wilt, and Mary Butler. Transitions of Care From Pediatric to Adult Services for Children With Special Healthcare Needs. Agency for Healthcare Research and Quality (AHRQ), May 2022. http://dx.doi.org/10.23970/ahrqepccer255.

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Objective. To understand the evidence base for care interventions, implementation strategies, and between-provider communication tools among children with special healthcare needs (CSHCN) transitioning from pediatric to adult medical care services. Data sources. We searched Ovid MEDLINE, Ovid Embase, the Cochrane Central trials (CENTRAL) registry, and CINAHL to identify studies through September 10, 2021. We conducted grey literature searches to identify additional resources relevant to contextual questions. Review methods. Using a mixed-studies review approach, we searched for interventions or implementation strategies for transitioning CSHCN from pediatric to adult services. Two investigators screened abstracts and full-text articles of identified references for eligibility. Eligible studies included randomized controlled trials, quasi-experimental observational studies, and mixed-method studies of CSHCN, their families, caregivers, or healthcare providers. We extracted basic study information from all eligible studies and grouped interventions into categories based on disease conditions. We summarized basic study characteristics for included studies and outcomes for studies assessed as low to medium risk of bias using RoB-2. Results. We identified 9,549 unique references, 440 of which represented empirical research; of these, 154 (16 major disease categories) described or examined a care transition intervention with enough detail to potentially be eligible for inclusion in any of the Key Questions. Of these, 96 studies met comparator criteria to undergo risk of bias assessment; however only 9 studies were assessed as low or medium risk of bias and included in our analytic set. Low-strength evidence shows transition clinics may not improve hemoglobin A1C levels either at 12 or 24 months in youth with type 1 diabetes mellitus compared with youth who received usual care. For all other interventions and outcomes, the evidence was insufficient to draw meaningful conclusions because the uncertainty of evidence was too high. Some approaches to addressing barriers include dedicating time and resources to support transition planning, developing a workforce trained to care for the needs of this population, and creating structured processes and tools to facilitate the transition process. No globally accepted definition for effective transition of care from pediatric to adult services for CSHCN exists; definitions are often drawn from principles for transitions, encompassing a broad set of clinical aspects and other factors that influence care outcomes or promote continuity of care. There is also no single measure or set of measures consistently used to evaluate effectiveness of transitions of care. The literature identifies a limited number of available training and other implementation strategies focused on specific clinical specialties in targeted settings. No eligible studies measured the effectiveness of providing linguistically and culturally competent healthcare for CSHCN. Identified transition care training, and care interventions to
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Zhou, Ruhua, Jingjing Xu, Jiaochen Luan, Weiyun Wang, Xinzhi Tang, Yanling Huang, Ziwen Su, Lei Yang, and Zejuan Gu. The Predictive Role of C-Reactive Protein on Sudden Death: A meta-analysis of prospective studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, November 2021. http://dx.doi.org/10.37766/inplasy2021.11.0074.

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This study was a diagnostic research, so the content was decomposed according to PIRO : P: Patients diagnosed with sudden death; I: C-reactive protein; R: There is no gold standard for sudden death, and the definition of sudden death varies from literature to literature. The World Health Organization defines sudden death: "Patients who are normally healthy or seemingly healthy die suddenly due to natural diseases in an unexpectedly short period of time." In our study, sudden death is determined by the history, symptoms, physical examination and electrocardiogram results assesed by doctor. If death events were collected from the patients’ medical records, deaths coded using the International Classification of Diseases-9th Revision, codes 410 to 414 for non-SCD and 798.1 for SCD; or the International Classification of Diseases-10th Revision, codes I20 to I25 for non-SCD and I46 for SCD. All deaths registered as sudden deaths were confirmed in interviews with the patient’s physician or family members again. O: sudden death.
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Newman-Toker, David E., Susan M. Peterson, Shervin Badihian, Ahmed Hassoon, Najlla Nassery, Donna Parizadeh, Lisa M. Wilson, et al. Diagnostic Errors in the Emergency Department: A Systematic Review. Agency for Healthcare Research and Quality (AHRQ), December 2022. http://dx.doi.org/10.23970/ahrqepccer258.

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Objectives. Diagnostic errors are a known patient safety concern across all clinical settings, including the emergency department (ED). We conducted a systematic review to determine the most frequent diseases and clinical presentations associated with diagnostic errors (and resulting harms) in the ED, measure error and harm frequency, as well as assess causal factors. Methods. We searched PubMed®, Cumulative Index to Nursing and Allied Health Literature (CINAHL®), and Embase® from January 2000 through September 2021. We included research studies and targeted grey literature reporting diagnostic errors or misdiagnosis-related harms in EDs in the United States or other developed countries with ED care deemed comparable by a technical expert panel. We applied standard definitions for diagnostic errors, misdiagnosis-related harms (adverse events), and serious harms (permanent disability or death). Preventability was determined by original study authors or differences in harms across groups. Two reviewers independently screened search results for eligibility; serially extracted data regarding common diseases, error/harm rates, and causes/risk factors; and independently assessed risk of bias of included studies. We synthesized results for each question and extrapolated U.S. estimates. We present 95 percent confidence intervals (CIs) or plausible range (PR) bounds, as appropriate. Results. We identified 19,127 citations and included 279 studies. The top 15 clinical conditions associated with serious misdiagnosis-related harms (accounting for 68% [95% CI 66 to 71] of serious harms) were (1) stroke, (2) myocardial infarction, (3) aortic aneurysm and dissection, (4) spinal cord compression and injury, (5) venous thromboembolism, (6/7 – tie) meningitis and encephalitis, (6/7 – tie) sepsis, (8) lung cancer, (9) traumatic brain injury and traumatic intracranial hemorrhage, (10) arterial thromboembolism, (11) spinal and intracranial abscess, (12) cardiac arrhythmia, (13) pneumonia, (14) gastrointestinal perforation and rupture, and (15) intestinal obstruction. Average disease-specific error rates ranged from 1.5 percent (myocardial infarction) to 56 percent (spinal abscess), with additional variation by clinical presentation (e.g., missed stroke average 17%, but 4% for weakness and 40% for dizziness/vertigo). There was also wide, superimposed variation by hospital (e.g., missed myocardial infarction 0% to 29% across hospitals within a single study). An estimated 5.7 percent (95% CI 4.4 to 7.1) of all ED visits had at least one diagnostic error. Estimated preventable adverse event rates were as follows: any harm severity (2.0%, 95% CI 1.0 to 3.6), any serious harms (0.3%, PR 0.1 to 0.7), and deaths (0.2%, PR 0.1 to 0.4). While most disease-specific error rates derived from mainly U.S.-based studies, overall error and harm rates were derived from three prospective studies conducted outside the United States (in Canada, Spain, and Switzerland, with combined n=1,758). If overall rates are generalizable to all U.S. ED visits (130 million, 95% CI 116 to 144), this would translate to 7.4 million (PR 5.1 to 10.2) ED diagnostic errors annually; 2.6 million (PR 1.1 to 5.2) diagnostic adverse events with preventable harms; and 371,000 (PR 142,000 to 909,000) serious misdiagnosis-related harms, including more than 100,000 permanent, high-severity disabilities and 250,000 deaths. Although errors were often multifactorial, 89 percent (95% CI 88 to 90) of diagnostic error malpractice claims involved failures of clinical decision-making or judgment, regardless of the underlying disease present. Key process failures were errors in diagnostic assessment, test ordering, and test interpretation. Most often these were attributed to inadequate knowledge, skills, or reasoning, particularly in “atypical” or otherwise subtle case presentations. Limitations included use of malpractice claims and incident reports for distribution of diseases leading to serious harms, reliance on a small number of non-U.S. studies for overall (disease-agnostic) diagnostic error and harm rates, and methodologic variability across studies in measuring disease-specific rates, determining preventability, and assessing causal factors. Conclusions. Although estimated ED error rates are low (and comparable to those found in other clinical settings), the number of patients potentially impacted is large. Not all diagnostic errors or harms are preventable, but wide variability in diagnostic error rates across diseases, symptoms, and hospitals suggests improvement is possible. With 130 million U.S. ED visits, estimated rates for diagnostic error (5.7%), misdiagnosis-related harms (2.0%), and serious misdiagnosis-related harms (0.3%) could translate to more than 7 million errors, 2.5 million harms, and 350,000 patients suffering potentially preventable permanent disability or death. Over two-thirds of serious harms are attributable to just 15 diseases and linked to cognitive errors, particularly in cases with “atypical” manifestations. Scalable solutions to enhance bedside diagnostic processes are needed, and these should target the most commonly misdiagnosed clinical presentations of key diseases causing serious harms. New studies should confirm overall rates are representative of current U.S.-based ED practice and focus on identified evidence gaps (errors among common diseases with lower-severity harms, pediatric ED errors and harms, dynamic systems factors such as overcrowding, and false positives). Policy changes to consider based on this review include: (1) standardizing measurement and research results reporting to maximize comparability of measures of diagnostic error and misdiagnosis-related harms; (2) creating a National Diagnostic Performance Dashboard to track performance; and (3) using multiple policy levers (e.g., research funding, public accountability, payment reforms) to facilitate the rapid development and deployment of solutions to address this critically important patient safety concern.
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