We have begun work on two separate but related ontologies for the study of neurological diseases. The first, the Neurological Disease Ontology (ND), is intended to provide a set of controlled, logically connected classes to describe the range of neurological diseases and their associated signs and symptoms, assessments, diagnoses, and interventions that are encountered in the course of clinical practice. ND is built as an extension of the Ontology for General Medical Sciences — a high-level candidate OBO Foundry ontology (...) that provides a set of general classes that can be used to describe general aspects of medical science. ND is being built with classes utilizing both textual and axiomatized definitions that describe and formalize the relations between instances of other classes within the ontology itself as well as to external ontologies such as the Gene Ontology, Cell Ontology, Protein Ontology, and Chemical Entities of Biological Interest. In addition, references to similar or associated terms in external ontologies, vocabularies and terminologies are included when possible. Initial work on ND is focused on the areas of Alzheimer’s and other diseases associated with dementia, multiple sclerosis, and stroke and cerebrovascular disease. Extensions to additional groups of neurological diseases are planned. The second ontology, the Neuro-Psychological Testing Ontology (NPT), is intended to provide a set of classes for the annotation of neuropsychological testing data. The intention of this ontology is to allow for the integration of results from a variety of neuropsychological tests that assay similar measures of cognitive functioning. Neuro-psychological testing is an important component in developing the clinical picture used in the diagnosis of patients with a range of neurological diseases, such as Alzheimer’s disease and multiple sclerosis, and following stroke or traumatic brain injury. NPT is being developed as an extension to the Ontology for Biomedical Investigations. (shrink)

Recent achievements in rehabilitative robotics modify essential parameters of the human body, such as motility. Exoskeletons used for persons with neurological impairments like spinal cord injury and stroke enter this category by rehabilitating and assisting damaged motor patterns, achievements thought impossible until not long ago. Unlike other examples leading to similar dysfunctions, such as diseases or tumors, the experience of an accident causing a spinal cord injury or the occurrence of a cerebrovascular accident is sudden and perceived as a (...) radical event. This often leads to deep consequences for one’s own body capacities. Exoskeletons attempt to alter this condition, contributing to forge a temporary abled body, although this currently happens in the restricted space of a clinic or a lab and under very controlled conditions for the predominance of users. Using qualitative empirical material from an ongoing study in sociology, including expert and narrative interviews as well as ethnographic visits in labs and centers that design and test exoskeletons, this article addresses the challenges and gains that people with stroke and spinal cord injury experience during their training with exoskeletons. The discussed cases contribute to reassess categories from the phenomenological paradigm, disability studies, and the role medical technologies play in contemporary body worlds. (shrink)

Recent research has shown that psychological risk factors play an important role in the pathogenesis of cardiovascular diseases. The so-called coronary prone behaviour pattern predominates, an important part of which is the Type A behaviour pattern. This is characterized by a marked ambition, a constant feeling of being under pressure, due to latent aggression and to a striving to dominate. For cerebrovascular diseases the so-called pressured pattern as a risk factor has been found to be typical which is comparable (...) to the Type A behaviour. Psychological risk factors and their components are not equally important for different vascular diseases. Besides the explanation of the question as to how far psychological processes really are involved in the development of vascular diseases, the research on psychological risk factors serves as a foundation for psychosomatic theories. (shrink)

BackgroundSonographic mesenteric pattern in celiac disease (CD) suggests a hyperdynamic circulation. Despite the well-known CD-related neurological involvement, no study has systematically explored the cerebral hemodynamics to transcranial Doppler sonography.Materials and methodsMontreal Cognitive Assessment (MoCA) and 17-item Hamilton Depression Rating Scale (HDRS) were assessed in 15 newly diagnosed subjects with CD and 15 age-, sex-, and education-matched healthy controls. Cerebral blood flow (CBF) velocities and indices of resistivity (RI) and pulsatility (PI) from the middle cerebral artery (MCA), bilaterally, and the (...) basilar artery (BA) were recorded. We also assessed cerebral vasomotor reactivity (CVR) through the breath-holding test (BHT).ResultsWorse scores of MoCA and HDRS were found in patients compared to controls. Although patients showed higher values of CBF velocity from MCA bilaterally compared to controls, both at rest and after BHT, no comparison reached a statistical significance, whereas after BHT both RI and PI from BA were significantly higher in patients. A significant negative correlation between both indices from BA and MoCA score were also noted.ConclusionThese treatment-naïve CD patients may show some subtle CVR changes in posterior circulation, thus possibly expanding the spectrum of pathomechanisms underlying neuroceliac disease and in particular gluten ataxia. Subclinical identification of cerebrovascular pathology in CD may help adequate prevention and early management of neurological involvement. (shrink)

Because of difficulty processing the electronic medical record data of patients with cerebrovascular disease, there is little mature recognition technology capable of identifying the named entity of cerebrovascular disease. Excellent research results have been achieved in the field of named entity recognition, but there are several problems in the pre processing of Chinese named entities that have multiple meanings, of which neglecting the combination of contextual information is one. Therefore, to extract five categories of key entity (...) information for diseases, symptoms, body parts, medical examinations, and treatment in electronic medical records, this paper proposes the use of a BERT-BiGRU-CRF named entity recognition method, which is applied to the field of cerebrovascular diseases. The BERT layer first converts the electronic medical record text into a low-dimensional vector, then uses this vector as the input to the BiGRU layer to capture contextual features, and finally uses conditional random fields to capture the dependency between adjacent tags. The experimental results show that the F1 score of the model reaches 90.38%. (shrink)

Given research and public interest for conditions related to an extended lifespan, we addressed the questions of what matters and what matters most for subsequent survival past age 80. The data was drawn from the population-based and multidisciplinary Swedish OCTO Twin Study, in which a sample consisting of identical and same-sex fraternal twin pairs, followed from age 80 until death, provided detailed data on health, physical functioning, life style, personality, and sociodemographic conditions. Information concerning date of birth and death were (...) obtained from population census register. We estimated heritability using an ACE model and evaluated the role of multiple predictors for the mortality-related hazard rate using Cox regression. Our findings confirmed a low heritability of 12%. As expected, longer survival was associated with being a female, an apolipoprotein E e4 allele non-carrier, and a non-smoker. Several diseases were found to be associated with shorter survival as well as certain health conditions. Stronger grip and better lung function, as well as better vision, and better cognitive function was related to longer survival. Social embeddedness, better self-evaluated health, and life-satisfaction were also significantly associated with longer survival. After controlling for the impact of comorbidity, functional markers, and personality-related predictors, we found that sex, cerebrovascular diseases, compromised cognitive functioning, self-related health, and life-satisfaction remained as strong predictors. Cancer was only associated with the mortality hazard when accounting for other co-morbidities. The survival estimates were mostly in anticipated directions and contained effect sizes within the expected range. Noteworthy, we found that some of the so-called “soft-markers” remained strong predictors, despite a control for other factors. For example, self-evaluation of health and ratings of life-satisfaction provide additional and valuable information. (shrink)

Patients with schizophrenia have a higher risk of cardiovascular diseases and higher mortality from them than does the general population; however, the underlying mechanism remains unclear. Impaired cerebral autoregulation is associated with cerebrovascular diseases and their mortality. Increased or decreased cerebral blood flow in different brain regions has been reported in patients with schizophrenia, which implies impaired cerebral autoregulation. This study investigated the cerebral autoregulation in 21 patients with schizophrenia and 23 age- and sex-matched healthy controls. None of the (...) participants had a history of cardiovascular diseases, hypertension, or diabetes. All participants underwent 10-min blood pressure and cerebral blood flow recording through finger plethysmography and Doppler ultrasonography, respectively. Cerebral autoregulation was assessed by analyzing two autoregulation indices: the mean blood pressure and cerebral blood flow correlation coefficient (Mx), and the phase shift between the waveforms of blood pressure and cerebral blood flow determined using transfer function analysis. Compared with the controls, the patients had a significantly higher Mx (0.257 vs. 0.399, p = 0.036) and lower phase shift (44.3° vs. 38.7° in the 0.07–0.20 Hz frequency band, p = 0.019), which indicated impaired maintenance of constant cerebral blood flow and a delayed cerebrovascular autoregulatory response. Impaired cerebral autoregulation may be caused by schizophrenia and may not be an artifact of coexisting medical conditions. The mechanism underlying impaired cerebral autoregulation in schizophrenia and its probable role in the development of cerebrovascular diseases require further investigation. (shrink)

SummaryIn 1968, a prospective study was started in collaboration with the Family Planning Association to try to provide a balanced view of the beneficial and harmful effects of different methods of contraception. This investigation is now in progress at seventeen clinics and over 17,000 women are under observation. At the time of recruitment, all these women were married white British subjects, aged 25–39 years, who voluntarily agreed to participate. Fifty-six per cent were using oral contraceptives, 25% were using a diaphragm (...) and 19% were using an intrauterine device. During follow-up each woman is questioned at return visits to the clinic and a record of pregnancies and their outcome, hospital referrals, changes in contraceptive methods and the results of cervical smears, is accumulated. Women who default are sent a postal questionnaire and, if this is not returned, are telephoned or visited in their homes to collect the necessary information.So far, data obtained during 56,000 woman-years of observation are available for analysis. Follow-up has been maintained with an annual lapse rate of about 0.3%due to withdrawal of co-operation or loss of contact; adherence to the method of contraception in use at recruitment has been reasonably good, and the reporting of pregnancies and hospital admissions appears to have been both reliable and unbiased.The present data include only 24 deaths, so the mortality associated with different contraceptive methods cannot yet be estimated. With regard to morbidity, however, our preliminary results closely resemble those obtained in the prospective study carried out by the Royal College of General Practitioners and in the principal retrospective studies carried out in Britain and the United States. Women who used oral contraceptives at the start of the study experienced adeficiencyof hospital referrals for cancer, benign lesions of the breast, menstrual disorders other than amenorrhoea, duodenal ulcer, and retention cysts of the ovary; they showed anexcessof referrals for cerebrovascular disease, cervical erosion, skin disorders, self-poisoning, migraine, venous thrombosis and embolism, hayfever, gallbladder disease, amenorrhoea, and sterility. Women who used a diaphragm showed adeficiencyof hospital referrals for carcinoma-in-situ and dysplastic lesions of the cervix uteri and accidental injury; and anexcessof referrals for haemorrhoids and cystitis. Women who used an IUD experienced anexcessof hospital referrals for anaemia, varicose veins and salpingitis. About half of these differences were predicted from other studies while some suggestive evidence already existed for a further five. Of the remaining six, some probably reflect the influence of selective factors or chance.Multiple pregnancies, stillbirths, malformations, the sex ratio and birthweight showed no consistent relationship to method of contraception. The outcome of unplanned pregnancies occurring in women using an IUD, however, was remarkably unfavourable both in terms of ectopic gestation and miscarriage.Clear evidence was found of impairment of fertility after discontinuation of oral contraceptives. Whether this is likely to lead to permanent sterility in some women is uncertain.The study has provided data on the efficacy of a wide variety of contraceptive methods. In general the failure rates are in keeping with those obtained in other large-scale studies, save that those for the diaphragm and the sheath are much lower than those usually quoted.The available evidence does not yet allow a final balance to be struck between the benefits and risks associated with the new methods of contraception that have become widely used during the last two decades. It seems clear, however, that there are no material risks associated with the use of the diaphragm apart from the risk of pregnancy and that there may be some unintended benefits. (shrink)

In the spring of 1987, I was in Havana, Cuba, where I was participating in planning a large-scale longitudinal study of the neurophysiological, neurochemical, and behavioral characteristics of cohorts of patients with cerebrovascular disease, depression, senile dementia, schizophrenia, or learning disabilities; and also part of this study were their first-degree blood relatives. This study was the outgrowth of a long-term project on the practical application of computer methods for the evaluation of brain electrical activity related to anatomical integrity, (...) maturational development, and sensory, perceptual;·-and cognitive processes, especially in chil dren. For many years, that project had been supported by the United Nations Development Program (UNDP), the National Scientific Research Center of Cuba (CNIC), and the Ministries of Public Health and of Education of Cuba. Since its inception, I had served as a technical advisor to the UNDP project. When the project began, I became acquainted with Dr. Jose M. Miyar Barrueco, who was at that time the Rector of the Medical School of the University of Havana. Because of his keen interest in the new computer technology and its potential utility in developing countries, we met from time to time during my visits. These occasional meetings continued after he became Secretary of the Cuban Council of State, so that he could remain apprised of progress and problems with which he might help. (shrink)

BackgroundThis study aimed at standardizing and providing preliminary evidence on the clinical usability of the Italian telephone-based Verbal Fluency Battery, which includes phonemic, semantic and alternate verbal fluency tasks.MethodsThree-hundred and thirty-five Italian healthy participants and 27 individuals with neurodegenerative or cerebrovascular diseases were administered the t-VFB. Switch number and cluster size were computed via latent semantic analyses. HPs underwent the telephone-based Mental State Examination and Backward Digit Span. Construct validity, factorial structure, internal consistency, test-retest and inter-rater reliability and equivalence (...) with the in-person Verbal Fluency tasks were assessed. Norms were derived via Equivalent Scores. Diagnostic accuracy against clinical populations was assessed.ResultsThe majority of t-VFB scores correlated among each other and with the BDS, but not with the MMSE. Switch number correlated with t-PVF, t-SVF, t-AVF scores, whilst cluster size with the t-SVF and t-AVF scores only. The t-VFB was underpinned by a mono-component structure and was internally consistent. Test-retest and inter-rater reliability were optimal. Each t-VFB test was statistically equivalent to its in-person version. Education predicted all t-VFB scores, whereas age t-SVF and t-AVF scores and sex only some t-SVF scores. Diagnostic accuracy against clinical samples was optimal.DiscussionThe t-VFB is a valid, reliable and normed telephone-based assessment tool for language and executive functioning, equivalent to the in-person version; results show promising evidence of its diagnostic accuracy in neurological populations. (shrink)

ObjectiveThe Spatial Learning Task of Lhermitte and Signoret is an object-location arbitrary associative learning task. The task was originally developed to evaluate adults with severe amnesia. It is currently used in populations where the memory system either is not yet fully developed or where it has been compromised (e.g. epilepsy, traumatic brain injury, electroconvulsive therapy, cerebrovascular disease and dementia). Normative data have been published for paediatric cohorts and for older adults, however no data exist for the intervening adult (...) years.MethodHere, we address this gap, collecting normative data from 101 adults aged 18–45.ResultsOur data indicate that performance on the Spatial Learning Task is not influenced by age, gender, level of education or overall IQ. Less than 10% of the variance in learning scores is associated with variability in verbal memory. Ninety percent of participants achieved perfect scores on two successive trials (T2Cr) within five or fewer trials on the Spatial Learning Task. A T2Cr score of 6 is suggestive of impairment and a T2Cr score of 7 or more is statistically abnormal.ConclusionThese data expand the clinical utility of the Spatial Learning Task in the adult population. Future work should examine performance in lower IQ cohorts, including intellectual disability, and explore sensitivity to disease factors such as laterality of mesial temporal lobe damage. (shrink)

Despite that it is commonly accepted that migraine is a disorder of the nervous system with a prominent genetic basis, it is comorbid with a plethora of medical conditions. Several studies have found bidirectional comorbidity between migraine and different disorders including neurological, psychiatric, cardio- and cerebrovascular, gastrointestinal, metaboloendocrine, and immunological conditions. Each of these has its own genetic load and shares some common characteristics with migraine. The bidirectional mechanisms that are likely to underlie this extensive comorbidity between migraine and (...) other diseases are manifold. Comorbid pathologies can induce and promote thalamocortical network dysexcitability, multi-organ transient or persistent pro-inflammatory state, and disproportionate energetic needs in a variable combination, which in turn may be causative mechanisms of the activation of an ample defensive system with includes the trigeminovascular system in conjunction with the neuroendocrine hypothalamic system. This strategy is designed to maintain brain homeostasis by regulating homeostatic needs, such as normal subcortico-cortical excitability, energy balance, osmoregulation, and emotional response. In this light, the treatment of migraine should always involves a multidisciplinary approach, aimed at identifying and, if necessary, eliminating possible risk and comorbidity factors. (shrink)

In the United States, at least 6% of all hospital beds are in the intensive care unit or coronary care unit. The cost of treating a patient in an intensive care unit averages from $2,000 to $3,500 per day. At least 10–40% of intensive care patients will not survive to hospital discharge. Today, every major category of disease may be found in the modern ICU; common diagnoses are septicemia, postsurgical complications, cerebrovascular accidents, gastrointestinal bleeding, neoplasia, and respiratory failure. (...) ICUs employ some of the most sophisticated medical technology, routinely monitoring the cardiopulmonary performance of patients and often providing assisted ventilation. ICUs are high intensity in terms of their staffing, involving 24-hour physician supervision and nurse:patient ratios from 1:3 to 1:1. (shrink)

The study of low penetrance gene variants in a complex genetic disorder such as stroke does not pose the same risks and benefits as a study of highly penetrant mutations.1 Because of the nature of their disease, however, stroke patients may not understand the information given when they are asked for consent to participate in research and are potentially vulnerable subjects. In a systematic review of publications on ischaemic stroke genetics, we assessed the way in which informed consent and (...) ethics committee approval are reported.MethodsWe searched the MEDLINE database for stroke genetics studies published in English between January 2000 and January 2002, using the medical subject heading term “cerebrovascular disorders, genetics of” plus the text words “ischaemic” and “stroke.”2 We included only original clinical trials and observational studies of human genetic risk factors for ischaemic stroke.Both authors independently reviewed every article. We used standardised forms to record whether an explicit statement described informed consent and institutional review board procedures. We also recorded whether …. (shrink)

Recently, concerns have been raised about the phenomenon of 'overdiagnosis', the diagnosis of a condition that is not causing harm, and will not come to cause harm. Along with practical, ethical, and scientific questions, overdiagnosis raises questions about our concept of disease. In this paper, we analyse overdiagnosis as an epistemic problem and show how it challenges many existing accounts of disease. In particular, it raises questions about conceptual links drawn between disease and dysfunction, harm, and risk. (...) We argue that "disease" should be considered a vague concept with a nonclassical structure. On this view, overdiagnosed cases are 'borderline' cases of disease, falling in the zone between cases that are clearly disease, and cases that are clearly not disease. We then develop a précising definition of disease designed to provide practical help in preventing and limiting overdiagnosis. We argue that for this purpose, we can define disease as dysfunction that has a significant risk of causing severe harm to the patient. (shrink)

RECENT PHILOSOPHICAL ATTENTION TO THE LANGUAGE OF DISEASE HAS FOCUSED PRIMARILY ON THE QUESTION OF ITS VALUE-NEUTRALITY OR NON-NEUTRALITY. PROPONENTS OF THE VALUE-NEUTRALITY THESIS SYMBOLICALLY COMBINE POLITICAL AND OTHER CRITICISMS OF MEDICINE IN AN ATTACK ON WHAT THEY SEE AS VALUE-INFECTED USES OF DISEASE LANGUAGE. THE PRESENT ESSAY ARGUES AGAINST TWO THESES ASSOCIATED WITH THIS VIEW: A METHODOLOGICAL THESIS WHICH TENDS TO DIVORCE THE ANALYSIS OF DISEASE LANGUAGE FROM THE CONTEXT OF THE PRACTICE OF MEDICINE AND A (...) SUBSTANTIVE THESIS WHICH HOLDS THAT DISEASE LANGUAGE IS EVALUATIVELY NEUTRAL. IN PARTICULAR, THE ESSAY CRITICALLY FOCUSES ON THE VALUE NEUTRAL POSITION ADOPTED BY CHRISTOPHER BOORSE, WHICH HE TERMS A FUNCTIONAL THEORY OF DISEASE. THE ARGUMENT CONCERNS WHETHER OR NOT ONE CAN HAVE VALUE NEUTRAL DESCRIPTION OF DISEASE STATES OR WHETHER DISEASE LANGUAGE ESSENTIALLY INVOLVES VALUES. (shrink)

Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given (...) disease can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges. (shrink)

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and (...) information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain. (shrink)

Debates about the genuine disease status of controversial diseases rely on intuitions about a range of factors. Adopting tools from experimental philosophy, this paper explores some of the factors that influence judgments about whether low sexual desire should be considered a disease and whether it should be medically treated. Drawing in part on some assumptions underpinning a divide in the literature between viewing low sexual desire as a genuine disease and seeing it as improperly medicalized, we investigate (...) whether health and disease judgments are affected by factors such as an individual’s gender, the cause of the low desire, whether the desire is high or low, and both personal and societal valuations of the condition. Our main findings indicate that (a) the cause of a condition influences whether it is judged a disorder, (b) how the individual values the condition influences whether the condition is seen as a proper target of medical intervention, and (c) perceived dysfunction influences judgments regarding health, disorder classification, medicalization, and medical intervention. Our findings help further illuminate the intricate interplay of factors that influence judgments about health and disease in controversial conditions. (shrink)

Health, Disease, and Illness brings together a sterling list of classic and contemporary thinkers to examine the history, state, and future of ever-changing "concepts" in medicine.

The concept of disease remains hotly contested. In light of problems with existing accounts, some theorists argue that the disease concept ought to be eliminated. We answer this skeptical challenge by reframing the discussion in terms of the role that the disease concept plays in the complex network of health-care institutions in which it is deployed. We argue that while prevailing accounts do not suffer from the particular defects that critics have identified, they do suffer from other (...) deficits, and this leads us to propose a new account that satisfies the desiderata for a concept of disease in human medicine. (shrink)

Deutsche Krankheit: eine Diagnosestellung mit Rückblick und Ausblick auf Krankheitsverlauf.

This paper examines what it is for a condition to be a disease. It falls into two sections. In the first I examine the best existing account of disease (as proposed by Christopher Boorse) and argue that it must be rejected. In the second I outline a more acceptable account of disease. According to this account, by disease we mean a condition that it is a bad thing to have, that is such that we consider the (...) afflicted person to have been unlucky, and that can potentially be medically treated. All three criteria must be fulfilled for a condition to be a disease. The criterion that for a condition to be a disease it must be a bad thing is required to distinguish the biologically different from the diseased. The claim that the sufferer must be unlucky is needed to distinguish diseases from conditions that are unpleasant but normal, for example teething. Finally, the claim that for a condition to be a disease it must be potentially medically treatable is needed to distinguish diseases from other types of misfortune, for example economic problems and legal problems. (shrink)

Conceptual analysis of health and disease is portrayed as consisting in the confrontation of a set of criteria—a “definition”—with a set of cases, called instances of either “health” or “ disease.” Apart from logical counter-arguments, there is no other way to refute an opponent’s definition than by providing counter-cases. As resorting to intensional stipulation is not forbidden, several contenders can therefore be deemed to have succeeded. This implies that conceptual analysis alone is not likely to decide between naturalism (...) and normativism. An alternative to this approach would be to examine whether the concept of disease can be naturalized. (shrink)

Recent philosophical attention to the language of disease has focused primarily on the question of its value-neutrality or non-neutrality. Proponents of the value-neutrality thesis symbolically combine political and other criticisms of medicine in an attack on what they see as value-infected uses of disease language. The present essay argues against two theses associated with this view: a methodological thesis which tends to divorce the analysis of disease language from the context of the practice of medicine and a (...) substantive thesis which holds that disease language is evaluatively neutral. In particular, the essay critically focuses on the value neutral position adopted by Christopher Boorse, which he terms a functional theory of disease. The argument concerns whether or not one can have value neutral description of disease states or whether disease language essentially involves values. (shrink)

Despite several decades of debate, the concept of disease remains hotly contested. The debate is typically cast as one between naturalism and normativism, with a hybrid view that combines elements of each staked out in between. In light of a number of widely discussed problems with existing accounts, some theorists argue that the concept of disease is beyond repair and thus recommend eliminating it in a wide range of practical medical contexts. Any attempt to reframe the ‘disease’ (...) discussion should answer the more basic sceptical challenge, and should include a meta-methodological critique guided by our pragmatic expectations of what the disease concept ought to do given that medical diagnosis is woven into a complex network of healthcare institutions. In this paper, we attempt such a reframing, arguing that while prevailing accounts do not suffer from the particular defects that prominent critics have identified, they do suffer from other deficits—and this leads us to propose an amended hybrid view that places objectivist approaches to disease on stronger theoretical footing, and satisfies the institutional-ethicaldesiderataof a concept of disease in human medicine. Nevertheless, we do not advocate a procrustean approach to ‘disease’. Instead, we recommend disease concept pluralism between medical and biological sciences to allow the concept to serve the different epistemic and institutional goals of these respective disciplines. (shrink)

Plants from a handful of species provide the primary source of food for all people, yet this source is vulnerable to multiple stressors, such as disease, drought, and nutrient deficiency. With rapid population growth and climate uncertainty, the need to produce crops that can tolerate or resist plant stressors is more crucial than ever. Traditional plant breeding methods may not be sufficient to overcome this challenge, and methods such as highOthroughput sequencing and automated scoring of phenotypes can provide significant (...) new insights. Ontologies are essential tools for accessing and analysing the large quantities of data that come with these newer methods. As part of a larger project to develop ontologies that describe plant phenotypes and stresses, we are developing a plant disease extension of the Infectious Disease Ontology (IDOPlant). The IDOPlant is envisioned as a reference ontology designed to cover any plant infectious disease. In addition to novel terms for infectious diseases, IDOPlant includes terms imported from other ontologies that describe plants, pathogens, and vectors, the geographic location and ecology of diseases and hosts, and molecular functions and interactions of hosts and pathogens. To encompass this range of data, we are suggesting inOhouse ontology development complemented with reuse of terms from orthogonal ontologies developed as part of the Open Biomedical Ontologies (OBO) Foundry. The study of plant diseases provides an example of how an ontological framework can be used to model complex biological phenomena such as plant disease, and how plant infectious diseases differ from, and are similar to, infectious diseases in other organism. (shrink)

Rare diseases pose a particular priority setting problem. The UK gives rare diseases special priority in healthcare priority setting. Effectively, the National Health Service is willing to pay much more to gain a quality-adjusted life-year related to a very rare disease than one related to a more common condition. But should rare diseases receive priority in the allocation of scarce healthcare resources? This article develops and evaluates four arguments in favour of such a priority. These pertain to public values, (...) luck egalitarian distributive justice the epistemic difficulties of obtaining knowledge about rare diseases and the incentives created by a higher willingness to pay. The first is at odds with our knowledge regarding popular opinion. The three other arguments may provide a reason to fund rare diseases generously. However, they are either overinclusive because they would also justify funding for many non-rare diseases or underinclusive in the sense of justifying priority for only some rare diseases. The arguments thus fail to provide a justification that tracks rareness as such. There are no data in this work. (shrink)

This chapter contains sections titled: The Ethical Importance of Infectious Disease The Global Infectious Disease Status Quo: AIDS and TB Drug Resistance Limiting Liberty in Contexts of Contagion Improving Global Health References Further reading.

Coronavirus disease 2019 pandemic is continuing to have severe effects on tourism-related industries, as safety precautions have become essential to follow. Based on this, this study aims to explore the role of perceptions of the tourist of safety in tourism destination choice with the mediating effect of tourist trust in the context of the Chinese tourism sector. In addition, this study considers improvements to safety measures for sustainable tourism and the benefits of the technology transformation in the travel industry (...) because of COVID-19. For this study, a quantitative approach was used, and data were collected through convenient sampling. The questionnaire was measured on a 5-point Likert scale, and a cross-sectional approach was adopted for data analysis. The findings of this study show that the effect of the perceived safety of the social environment, perceived safety of facility and equipment elements, perceived safety of human elements, perceived safety of management elements, and perceived safety of natural environments is significant and positive on the tourist destination choice. In addition, TT is a significant mediator between these elements and TDC. Furthermore, this study concluded that COVID-19 had increased travel anxiety, with particularly negative effects on the Chinese tourism sector, but that the adoption of perceived safety measures could be beneficial in regaining TT for traveling, eventually giving tourists confidence in choosing their traveling destination. (shrink)

The philosophy of medicine and psychiatry has considered the defining of disease, illness, and disorder an important project for over three decades. Within this literature, accounts based on adaptive "functions" have been prominent, particularly in the DSM nosology. In response to this trend, Jerome Wakefield has presented a view of mental disorder as "harmful dysfunction." In this view, "harm" contributes the value-element to disorder concepts, while "dysfunction" implies a value-free foundation as long as the latter is grounded in evolutionary (...) biology. In a critical review of Wakefield's and others' functionalist arguments for disorder concepts, we make four major points. We recommend a shift away from the definition of value-free disorder concepts, instead emphasizing the analysis of the logical features and the value commitments in nosological categories. (shrink)

While philosophical questions about health and disease have attracted much attention in recent decades, and while opinions are divided on most issues, influential accounts seem to embrace negativism about health, according to which health is the absence of disease. Some subscribe to unrestricted negativism, which claims that negativism applies not only to the concepts of health and disease as used by healthcare professionals but also to the lay concept that underpins everyday thinking. Whether people conceptualize health in (...) this manner has implications for medical care and public health, and so we set out to examine this claim in two studies. Participants were asked to assess and compare the health states of two people presented in two vignettes. We found that both lay people and medical students conceptualize health as something more than the absence of disease. We argue that our findings highlight a need to rethink unrestricted negativism and indicate a need to rethink the way the debate has traditionally focused on disease. (shrink)

Theorists analyzing the concept of disease on the basis of the notion of dysfunction consider disease to be dysfunction requiring. More specifically, dysfunction-requiring theories of disease claim that for an individual to be diseased certain biological facts about it must be the case. Disease is not wholly a matter of evaluative attitudes. In this paper, I consider the dysfunction-requiring component of Wakefield’s hybrid account of disease in light of the artifactual organisms envisioned by current research (...) in synthetic biology. In particular, I argue that the possibility of artifactual organisms and the case of oncomice and other bred or genetically modified strains of organism constitute a significant objection to Wakefield’s etiological account of the dysfunction requirement. I then develop a new alternative understanding of the dysfunction requirement that builds on the organizational theory of function. I conclude that my suggestion is superior to Wakefield’s theory because it (a) can accommodate both artifactual and naturally evolved organisms, (b) avoids the possibility of there being a conflict between what an organismic part is supposed to do and the health of the organism, and (c) provides a nonarbitrary and practical way of determining whether dysfunction occurs. (shrink)

In this article, we explore how sub-Saharan African immigrant populations in France have been constructed as risk groups by media sources, in political rhetoric, and among medical professionals, drawing on constructs dating to the colonial period. We also examine how political and economic issues have been mirrored and advanced in media visibility and ask why particular populations and the diseases associated with them in the popular imagination have received more attention at certain historical moments. In the contemporary period we analyze (...) how the bodies of West African women and men have become powerful metaphors in the politics of discrimination prevalent in France, in spite of Republican precepts that theoretically disavow cultural and social difference. (shrink)

Desde mediados del siglo XX ha aumentado progresivamente la incidencia y prevalencia de la depresión y se ha llegado a considerar que existe una epidemia de depresión. Los autores que han analizado esta idea consideran que la evidencia no avala tales extremos, pero señalan diferentes factores explicativos propios del desarrollo histórico de la psiquiatría, de su situación interna y de su relación con la sociedad. Tales explicaciones guardan similitud con las características propias de un proceso de disease mongering que (...) se define por ampliar las fronteras de la enfermedad para expandir los mercados. Mostraré como una revisión del desarrollo histórico de la psiquiatría, en relación con estas posibles hipótesis explicativas, permite afirmar que ciertas actitudes o situaciones han podido fomentar un proceso de disease mongering asociado a intereses privados y valores de los agentes relevantes en el desarrollo de la psiquiatría en cuestiones como: creación de un método diagnóstico, innovación farmacológica y regulación de nuevos fármacos. Sin embargo, debido a limitaciones conceptuales o epistémicas, no se puede realizar una afirmación más fuerte. (shrink)

Response to commentary. We are grateful to Crockett and Craigie for their interesting remarks on our paper. We accept Crockett’s claim that there is a need for caution in drawing inferences about patient groups from work on healthy volunteers in the laboratory. However, we believe that the evidence we cited established a strong presumption that many of the patients who are routinely taking a medication, including many people properly prescribed the medication for a medical condition, have morally significant aspects of (...) their cognition and behavior modified in a way that is unintended and may sometimes be unwelcome. Crockett notes that in some cases the effects of long-term drug use may differ, sometimes markedly, from the effects of short-term use. However, if acute use of a drug affects a neural system involved in mediating moral cognition or behavior, this nevertheless provides some evidence that chronic use of the drug may affect that same system and thus have morally significant effects. It is also plausible, in some cases, that an acute moral effect would give rise to a chronic moral effect via cognitive mechanisms. ... (shrink)

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as (...) its clinical presentation including signs and symptoms. (shrink)

This paper gives a self-defence account of the scope and limits of the justified use of compulsion to control contagious disease. It applies an individualistic model of self-defence for state action and uses it to illuminate the constraints on public health compulsion of proportionality and using the least restrictive alternative. It next shows how a self-defence account should not be rejected on the basis of past abuses. The paper then considers two possible limits to a self-defence justification: compulsion of (...) the non-culpable and over-inclusive compulsion. The paper claims that objections to compelling the non-culpable do not greatly restrict the scope of the self-defence justification. The over-included are, however, innocent bystanders, and methods such as compulsory quarantine, vaccination, and screening are not justified in self-defence. (shrink)

The COVID-19 pandemic invites a question about how long-standing narratives of alterity and current narratives of disease are entwined and re-enacted in the diagnosis of COVID-19. In this commentary, we discuss two related phenomena that, we argue, should be taken into account in answering this question. First, we address the diffusion of pseudoscientific accounts of minorities’ immunity to COVID-19. While apparently praising minorities’ biological resistance, such accounts rhetorically introduce a distinction between “Us” and “Them,” and in so doing produce (...) new and re-enact old narratives of alterity. Second, these unsubstantiated narratives thrive on fake news and scarcity of data. The second part of this commentary thus surveys the methods through which the COVID-19 test is administered in various countries. We argue that techniques used for data collection have a major role in producing COVID-19 data that render contagion rates among migrants and other minorities invisible. In the conclusion, we provide two recommendations about how COVID-19 data can instead potentially work towards inclusion. (shrink)

In a recent article in this journal, Zachary Ardern criticizes our view that the most promising candidate for a naturalized criterion of disease is the "selected effects" account of biological function and dysfunction. Here we reply to Ardern’s criticisms and, more generally, clarify the relationship between adaptation and dysfunction in the evolution of health and disease.

Philosophical debates about the concept of disease, particularly of mental disease, might benefit from reconsideration and a closer look at the established terminology and conceptual structure of contemporary medical pathology and clinical nosology. The concepts and principles of medicine differ, to a considerable extent, from the ideas and notions of philosophical theories of disease. In medical theory, the concepts of disease entity and pathologicity are, besides the concept of disease itself, of fundamental importance, and they (...) are essentially connected to the concepts cause of disease or etiological factor, natural course or natural history of disease, and pathological disposition. It is the concept of disease entity that is of key importance for understanding medical pathology and theory of disease. Its central role is shown by a short reconstruction of its main features and its intrinsic connection to the concept of pathologicity. The meaning of pathologicity is elucidated by explicating the underlying criteria. (shrink)

"This is a wonderful book! In "How Scientists Explain Disease," Paul Thagard offers us a delightful essay combining science, its history, philosophy, and sociology.

A great number of constructive suggestions for the analysis of the concepts and models treated are presented in this book, which mirrors a current debate within the theory of medicine by covering three central topics: the concepts of health and disease; definition and classification in medicine; and causal explanation in medicine. Among the issues dealt with are: How should the concepts of health and disease be characterized in order to be of relevance to clinical practice? Should we try (...) to define particular diseases in explicit terms? What should be the criteria for selecting causes when explaining disease or death? These problems are treated from various points of view, the contributors being drawn from the fields of clinical medicine, epidemiology, psychiatry, social medicine, philosophy, and history of medicine. (shrink)

If there is any value in the idea that disease is something other than the mere absence of health then that value must lie in the way that diseases are classified. This paper offers further development of a view advanced previously, the 'contrastive model' of disease: it develops the account to handle asymptomatic disease ; and in doing so it relates the model to a broadly biostatistical view of health. The developments are prompted by considering cancers featuring (...) viruses as prominent causes, since these appear to amount to cases where the prescriptions of the contrastive model could be followed, but aren't. The resulting irrelevance objection claims that the contrastive model is irrelevant to medical science and practice. The paper seeks to rebut the irrelevance objection. (shrink)

Cardiovascular disease (CVD) and sustained high blood glucose as prediabetes are an established comorbidity. People's experience in reconciling these long‐term conditions requires deeper appreciation if nurses are to more effectively support person‐centred care for people who have them. Our analysis explores the initial experience of people admitted to hospital with CVD who then find they also have sustained high blood glucose. Our methodology is informed by the philosophy of Gadamer and applies interpretive description to develop an interpretation of participant (...) experiences. The major theme emerging from participant interviews was the ‘invisible disequilibrium’ characterised by three subthemes: ‘losing equilibrium’, ‘becoming embattled’ and ‘evolving illness’. This study examines CVD and prediabetes in conjunction with the Gadamerian notion of the ‘whole’, as being in a social and emotional world in which illness is also a component part. We explore how participants lived within an ‘invisible disequilibrium’, with prediabetes frequently remaining unnoticed, while CVD was manifest. To identify multiple conditions and support effective intervention to manage them as part of person‐centric care, nursing practice should explore the ‘whole’ of the person's experience, value people’s knowledge as potential indicators of complex illness, thereby reducing the risk of accelerating complex illness. (shrink)

We, in the rare disease community are grateful to Halley et al. (2023) for highlighting some of the long-overlooked barriers to care. As the parent of a non-ambulatory, teenage boy living with Duch...

Some ‘naturalist’ accounts of disease employ a biostatistical account of dysfunction, whilst others use a ‘selected effect’ account. Several recent authors have argued that the biostatistical account offers the best hope for a naturalist account of disease. We show that the selected effect account survives the criticisms levelled by these authors relatively unscathed, and has significant advantages over the BST. Moreover, unlike the BST, it has a strong theoretical rationale and can provide substantive reasons to decide difficult cases. (...) This is illustrated by showing how life-history theory clarifies the status of so-called diseases of old age. The selected effect account of function deserves a more prominent place in the philosophy of medicine than it currently occupies. _1_ Introduction _2_ Biostatistical and Selected Effect Accounts of Function _3_ Objections to the Selected Effect Account _3.1_ Boorse _3.2_ Kingma _3.3_ Hausman _3.4_ Murphy and Woolfolk _4_ Problems for the Biostatistical Account _4.1_ Schwartz _5_ Analysis versus Explication _6_ Explicating Dysfunction: Life History Theory and Senescence _7_ Conclusion. (shrink)

It is argued that alcoholism, and substance addiction generally, is a disease. It is not of its nature chronic or progressive, although it is in serious cases. It is better viewed as a psychological disease than a neurological one. It is argued that each time an alcoholic takes a drink, this is the result of choice; however, in cases of serious affliction, such choices are compulsive and may be called 'involuntary' in that they are made against the subject's (...) will, motivated by an overwhelmingly powerful desire that he wishes he did not have and not to act on. Alternative accounts in terms social learning theory and behavioral economics are critiqued. The conception of alcoholism as a tripartite disease composed of a 'physical allergy,' a mental obsession, and a 'spiritual malady' is defended from a contemporary scientific point of view. (shrink)