Letteratura scientifica selezionata sul tema "Diseases Causes and theories of causation"
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Articoli di riviste sul tema "Diseases Causes and theories of causation"
1
Gad ELhak, Seham A., Abdel Aziz A. Ghanem, Hassan AbdelGhaffar, Sahar El Dakroury e Mohamed M. Salama. "Parkinson's Disease: Is It a Toxic Syndrome?" Neurology Research International 2010 (2010): 1–10. http://dx.doi.org/10.1155/2010/103094.
Testo completoAbstract (sommario):
Parkinson's disease (PD) is one of the neurodegenerative diseases which we can by certainty identify its pathology, however, this confidence disappeares when talking about the cause. A long history of trials, suggestions, and theories tried linking PD to a specific causation. In this paper, a new suggestion is trying to find its way, could it be toxicology? Can we—in the future—look to PD as an occupational disease, in fact, many clues point to the possible toxic responsibility—either total or partial—in causing this disease. Searching for possible toxic causes for PD would help in designing perfect toxic models in animals.
2
PADMANABHAN, SANDOSH, CLAIRE HASTIE, CHRISTOPHER A. SAINSBURY, MARTIN W. MCBRIDE, JOHN M. CONNELL e ANNA F. DOMINICZAK. "THE CAT, THE FLY AND THE BEETLE — WHY GENETICS NEEDS A SEMANTIC EDUCATION". International Journal of Semantic Computing 03, n. 01 (marzo 2009): 77–90. http://dx.doi.org/10.1142/s1793351x09000665.
Testo completoAbstract (sommario):
Major advances have been made in the understanding of the genetic basis of diseases since Mendel's publication of the results of plant breeding experiments in 1866. To date these advances have been largely confined to the monogenic disorders — caused by mutations in a single gene. The public-health implications of these advances is relatively limited. In this review we explore our current understanding of the genetic basis of human traits and the reasons why current theories may account for the difficulties in identifying the genes for common diseases. We then postulate that semantic computing may be rightly poised to help understand complex disease causation, and explore the efforts that have been made to date to develop the necessary technological approach to the problem.
3
Wright, James R. "A Fresh Look at the History of SIDS". Academic Forensic Pathology 7, n. 2 (giugno 2017): 146–62. http://dx.doi.org/10.23907/2017.017.
Testo completoAbstract (sommario):
Sudden infant death syndrome (SIDS) became a named entity in 1969 and the term has been used to certify sudden unexpected infant deaths meeting certain demographic, epidemiologic, and pathologic criteria. Since it is a diagnosis of exclusion, there is inherent imprecision, and this has led the National Association of Medical Examiners to recommend that these deaths now be classified as “undetermined.” This historical review article briefly analyzes anecdotal instances of SIDS described centuries ago as overlying, smothering, infanticide, and suffocation by bedclothes followed by a more detailed review of “thymic” causes (i.e., thymic asthma and status thymicolymphaticus) popular in the late 1800s and early 1900s. Before the 1950s, such cases were also often categorized as accidental mechanical suffocation. In the 1940s and 1950s, forensic studies on infants dying unexpectedly revealed a typical pattern of autopsy findings strongly suggestive of natural causation and, after 1969, cases meeting the appropriate criteria were usually categorized as SIDS, a term embraced by the public and by advocacy groups. Research conducted after the 1960s identified important risk factors and generated many theories related to pathogenesis, such as prolonged sleep apnea. The incidence of SIDS deaths decreased sharply in the early 1990s after implementing public awareness programs addressing risk factors such as prone sleeping position and exposure to smoking. Deletion of cases in which death scene investigation suggested asphyxiation and cases where molecular autopsies revealed metabolic diseases further decreased the incidence. This historical essay lays the foundation for debate on the future of the SIDS entity.
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P.K, Jyothi. "Endometriosis an Ayurvedic View". International Research Journal of Ayurveda & Yoga 05, n. 09 (2022): 117–23. http://dx.doi.org/10.47223/irjay.2022.5921.
Testo completoAbstract (sommario):
Endometriosis is a chronic estrogen dependent condition characterized by the ectopic implantation of functional tissue lining of uterus. The exact cause of endometriosis is not detected yet even though there are some theories which explain the pathogenesisof endometriosis. Retrograde menstruation and Coelomic metaplasia theories are included under this. Based on the site of appearance classification of endometriosis can be done as pelvic, extra pelvic and remote. Appearance of endometrial tissue in myometrium is termed as adenomyosis and endometriotic deep lesions in ovary is Endometrioma. The risk factor for aggravating endometriosis is cyclical hormonal changes especially estrogen. Ayurveda does not name endometriosis as a separate disease title. In Ayurveda the diseases related with genital tract is discussed under yoniroga. Brihatrayee and laghutrayee describe 20 yoni rogaunder various dosha vitiation. Due to the peculiar characteristic of pain, generally endometriosis is taken under vatika yoni vyapath. Even though vatais predominant, pithaand kaphadoshaare also involved in various stages. Retrograde flow of menstrual blood, genetic factors, lymphatic and vascular spread are considered as the causative factors. Nidanaof endometriosis include mithayahara,-vihara, arthava dusti, bija dushti,use of apadravyas (iatrogenic causes) and daiva(genetic or chromosomal factors). Various type pain and infertility are the main clinical features of endometriosis. Pain is due to increased vata in kadee desa. Through the study the Nidana of endometriosis is analyzed and compared with latest theories. Endometriosis is not considered as a life threatening disease it is a life altering disease that require timely diagnosis and treatment. Currently there is no universally acceptable treatment protocol for endometriosis is available
5
Hitchcock, Christopher Read. "Farewell to Binary Causation". Canadian Journal of Philosophy 26, n. 2 (giugno 1996): 267–82. http://dx.doi.org/10.1080/00455091.1996.10717454.
Testo completoAbstract (sommario):
Causation is a topic of perennial philosophical concern. As well as being of intrinsic interest, almost all philosophical concepts — such as knowledge, beauty, and moral responsibility — involve a causal dimension. Nonetheless, attempts to provide a satisfactory account of the nature of causation have typically led to barrages of counterexamples. I hope to show that a number of the difficulties plaguing theories of causation have a common source.Most philosophical theories of causation describe a binary relation between cause and effect, or at any rate, a relation that reduces to such a binary relation when certain background information is held fixed. Indeed, most theories provide the same general account of when this relation holds: in order to evaluate whether C causes E, we must make a comparison between two cases, which we may neutrally label as C and ∼C. Where theories of causation differ, of course, is in precisely what is being so compared. Regularity theories of causation require a comparison between what actually happens whenever C occurs, and what actually happens, elsewhere and elsewhen, when C does not occur.
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CLARKE, RANDOLPH. "Absence Causation for Causal Dispositionalists". Journal of the American Philosophical Association 4, n. 3 (2018): 323–31. http://dx.doi.org/10.1017/apa.2018.16.
Testo completoAbstract (sommario):
AbstractSeveral theories of causation rule out causation of or by lacks, omissions, or absences of things. They thereby conflict with much of what we think and say about what causes what. This article proposes a modification of one kind of theory, causal dispositionalism, so that it accepts absence causation while retaining a fundamental commitment of dispositionalism.
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Grenda, Vytautas. "DEVYNIŲ KONTRAFAKTINIŲ PRIEŽASTINGUMO TEORIJŲ PALYGINIMAS PASITELKIANT SEPTYNIS PAVYZDŽIUS". Problemos 76 (1 gennaio 2009): 134–49. http://dx.doi.org/10.15388/problemos.2009.0.1937.
Testo completoAbstract (sommario):
Straipsnyje lyginamos ir vertinamos devynios per pastarąjį dešimtmetį pasirodžiusios kontrafaktinės vienetinio priežastingumo teorijos, kurias visas sukūrė arba inspiravo D. Lewisas, J. Y. Halpernas ir J. Pearlas, o savo tekstuose išdėstė šeši kiti autoriai. Parodomi kai kurie literatūroje dar neaprašyti šių teorijų skirtumai. Įrodinėjama, kad dauguma šių teorijų intuityviai panašius pavyzdžius nagrinėja skirtingai, ir šiuo požiūriu primeta perskyras, kurių buitinės priežastingumo sampratos požiūriu ne tik nėra, bet ir neturėtų būti.Pagrindiniai žodžiai: vienetinis priežastingumas, kontrafaktiniai sąlyginiai teiginiai, „atsarginės“ priežastys, persąlygojimas.Comparison of Nine Counterfactual Theories of Causation by the Use of Seven ExamplesVytautas Grenda SummaryThe article compares and evaluates nine last-decade counterfactual theories of singular causation, which were either created or inspired by David Lewis, Joseph Y. Halpern and Judea Pearl and presented in the texts of six other authors. Some differences between those theories that have not yet been described in literature are shown in the article. It is argued that the majority of those theories analyze intuitively similar examples in different ways. In that respect, those theories impose distinctions which, according to the folk theory of causation, are (and should be) absent.Keywords: singular causation, counterfactuals, backup causes, overdetermination.
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Bedford, K. Juliet A., Paul Chidothi, Harris Sakala, John Cashman e Chris Lavy. "Clubfoot in Malawi: local theories of causation". Tropical Doctor 41, n. 2 (24 gennaio 2011): 65–67. http://dx.doi.org/10.1258/td.2010.100261.
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Singh, Garima Vipin, Renu Bharat Rathi e Bharat Jagdish Rathi. "Ayurvedic Management of Shwitra - A Case Report". Journal of Evolution of Medical and Dental Sciences 11, n. 4 (31 marzo 2022): 525–27. http://dx.doi.org/10.14260/jemds/2022/105.
Testo completoAbstract (sommario):
Shwitra or Shwet-Kushtha can be correlated with skin disease “Vitiligo”.[1] Vata and Bhrajaka pitta reside in skin. An imbalance in those may cause skin diseases. Shwitra is of two types, that is kilas and varuna.[2] Shwitra differs from other skin disorders by the normal functioning of all but the skin tissue (twak)[3] resulting in discoloration of the skin (twakvaivarnyata), without discharge (aparisarav stravi). [4,5] There are many theories regarding the cause of vitiligo. The main cause is autoimmune, genetic, psychological, endocrine disorder, chemical contact and adverse drug interaction.[6,7] In Ayurveda, the real causes as Nidan-causative factors are considered as untruthfulness, ungratefulness, disrespect for the Gods, insult of the preceptors, sinful acts, misdeeds of past lives and intake of contradictory food.[8] In Ayurveda, Shwitra is considered in Kushta. Though, it is not painful but in society, it is a hating state and dreadful condition, many people are suffering from this condition. It creates mental discomforts in a person due to stigma. A 9-year-old boy had been suffering from white patches over both elbows, both knees, ankles with mild itching over affected area. In this case, we used Shaman and Shodhan therapy which included snehapan, vaman, virechan, prachan, jaloka and external ointment advised to apply on the affected area in the morning at 9am and evening at 4 pm with exposure to sunlight for 2 months daily. Multiple lines of treatment were used which enhanced the proliferation of melanocytes. The colour of the affected skin area became red and size diminished to some extent. We wanted to study about Shwitra, its pathological manifestations, symptoms in detail and to assess the effect of individual panchkarma therapies in Shwitra.
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Nera, Kenzo. "Analyzing the Causation Between Conspiracy Mentality and Belief in Conspiracy Theories". Zeitschrift für Psychologie 232, n. 1 (gennaio 2024): 44–49. http://dx.doi.org/10.1027/2151-2604/a000533.
Testo completoAbstract (sommario):
Abstract: The dispositional approach to conspiracy mentality suggests that it causally precedes belief in conspiracy theories. I identify two potential pitfalls when analyzing this causal relationship: circular reasoning (in which the two constructs are conflated and interchangeable) and black box explanations (in which conspiracy mentality is merely defined as a disposition to believe in conspiracy theories). I argue that avoiding black box explanations requires theoretical and empirical works to clarify the content and antecedents of conspiracy mentality. To guide future research, I formulate two hypotheses based on a philosophical analysis of conspiracy thinking and empirical research. In doing so, I question common assumptions on conspiracy mentality. First, against the assumption that conspiracy mentality is unidimensional, I propose that it may be better conceptualized as a multidimensional construct. Second, against the assumption that conspiracy mentality unidirectionally causes conspiracy theory beliefs, I propose that this relationship might be bidirectional.
Tesi sul tema "Diseases Causes and theories of causation"
1
Allen, Scott Brian. "Optimal scheduling of disease-screening examinations based on detection delay". Thesis, Georgia Institute of Technology, 1995. http://hdl.handle.net/1853/28621.
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2
Crott, Jimmy. "The effects of folic acid deficiency and defects in folate metabolism on chromosome damage in vitro". Title page, table of contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phc9515.pdf.
Testo completoAbstract (sommario):
Reprints of the author's previously published articles included as an appendix. Bibliography: leaves 165-188. "This thesis describes a series of experiments that aimed to investigate the effects of folic acid deficiency and defects in folate metabolism on chromosome damage rates in human lymphocytes. The accumulation of chromosome damage over time is an important issue because it is thought to contribute to the mechanism of ageing and the aetiology of diseases of age such as cancer and Alzheimer's disease."
3
Shepherd, Gareth William Safety Science Faculty of Science UNSW. "Automating the aetiological classification of descriptive injury data". Awarded by:University of New South Wales. School of Safety Science, 2006. http://handle.unsw.edu.au/1959.4/24934.
Testo completoAbstract (sommario):
Injury now surpasses disease as the leading global cause of premature death and disability, claiming over 5.8 millions lives each year. However, unlike disease, which has been subjected to a rigorous epidemiologic approach, the field of injury prevention and control has been a relative newcomer to scientific investigation. With the distribution of injury now well described (i.e. ???who???, ???what???, ???where??? and ???when???), the underlying hypothesis is that progress in understanding ???how??? and ???why??? lies in classifying injury occurrences aetiologically. The advancement of a means of classifying injury aetiology has so far been inhibited by two related limitations: 1. Structural limitation: The absence of a cohesive and validated aetiological taxonomy for injury, and; 2. Methodological limitation: The need to manually classify large numbers of injury cases to determine aetiological patterns. This work is directed at overcoming these impediments to injury research. An aetiological taxonomy for injury was developed consistent with epidemiologic principles, along with clear conventions and a defined three-tier hierarchical structure. Validation testing revealed that the taxonomy could be applied with a high degree of accuracy (coder/gold standard agreement was 92.5-95.0%), and with high inter- and intra- coder reliability (93.0-96.3% and 93.5-96.3%). Practical application demonstrated the emergence of strong aetiological patterns which provided insight into causative sequences leading to injury, and led to the identification of effective control measures to reduce injury frequency and severity. However, limitations related to the inefficient and error-prone manual classification process (i.e. average 4.75 minute/case processing time and 5.0-7.5% error rate), revealed the need for an automated approach. To overcome these limitations, a knowledge acquisition (KA) software tool was developed, tested and applied, based on an expertsystems technique known as ripple down rules (RDR). It was found that the KA system was able acquire tacit knowledge from a human expert and apply learned rules to efficiently and accurately classify large numbers of injury cases. Ultimately, coding error rates dropped to 3.1%, which, along with an average 2.50 minute processing time, compared favourably with results from manual classification. As such, the developed taxonomy and KA tool offer significant advantages to injury researchers who have a need to deduce useful patterns from injury data and test hypotheses regarding causation and prevention.
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Carman, Judith Anne. "The metabolic relationship between nutrition and cancer /". Title page, contents and abstract only, 1988. http://web4.library.adelaide.edu.au/theses/09PH/09phc287.pdf.
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Munthali, Alister Chaundumuka. "Change and continuity : perceptions about childhood diseases among the Tumbuka of Northern Malawi". Thesis, Rhodes University, 2003. http://hdl.handle.net/10962/d1007718.
Testo completoAbstract (sommario):
The objectives of this study were to determine what the Tumbuka people of northern Malawi consider to be the most dangerous childhood diseases, to explore their perceptions about the aetiology, prevention and treatment of these diseases, and to determine how such perceptions have changed over the years. The study was done in Chisinde and surrounding villages in western Rumphi District, northern Malawi. Although a household questionnaire was used to collect some quantitative data, the major data collection methods comprised participant observation, in-depth interviews with mothers with children under five and old men and women, and key informant interviews with traditional healers, traditional birth attendants, village headmen, health surveillance assistants and clinical officers. Informants in this study mentioned chikhoso chamoto, diarrhoea, malaria, measles, and conjunctivitis as the most dangerous childhood diseases in the area. Old men and women added that in the past smallpox was also a dangerous disease that affected both children and adults. Apart from measles and smallpox, community-based health workers and those at the local health centre also mentioned the same list of diseases as the most dangerous diseases prevalent among under-five children. Though health workers and informants mentioned the same diseases, the informants' perspectives about the aetiology and prevention of these diseases and the way they sought treatment during childhood illness episodes, in some cases, differed significantly from those of biomedicine. For example, while health workers said that the signs and symptoms presented by a child suffering from "chikhoso chamoto" were those of either kwashiorkor or marasmus, both young and elderly informants said that a child could contract this illness through contact with a person who had been involved in sexual intercourse. Biomedically, diarrhoea is caused by the ingestion of pathogenic agents, which are transmitted through, among other factors, drinking contaminated water and eating contaminated foods. While young men and women subscribed to this biomedical view, at the same time, just like old men and women, they also believed that if a breastfeeding mother has sexual intercourse, sperms will contaminate her breast milk and, once a child feeds on this milk, he or she will develop diarrhoea. They, in addition, associated diarrhoea with the process of teething and other infections, such as malaria and measles. In malaria-endemic areas such as Malawi, the occurrence of convulsions, splenomegaly and anaemia in children under five may be biomedically attributed to malaria. However, most informants in this study perceived these conditions as separate disease entities caused by, among other factors, witchcraft and the infringement of Tumbuka taboos relating to food, sexual intercourse and funerals. Splenomegaly and convulsions were also perceived as hereditary diseases. Such Tumbuka perceptions about the aetiology of childhood diseases also influenced their ideas about prevention and the seeking of therapy during illness episodes. Apart from measles, other childhood vaccine-preventable diseases (i.e. tetanus, diphtheria, tuberculosis, pertussis and poliomyelitis) were not mentioned, presumably because they are no longer occurring on a significant scale, which is an indication of the success of vaccination programmes. This study reveals that there is no outright rejection of vaccination services in the study area. Some mothers, though, felt pressured to go for vaccination services as they believed that non-vaccinated children were refused biomedical treatment at the local health centres when they fell ill. While young women with children under five mentioned vaccination as a preventative measure against diseases such as measles, they also mentioned other indigenous forms of 'vaccination', which included the adherence to societal taboos, the wearing of amulets, the rubbing of protective medicines into incisions, isolation of children under five (e.g. a newly born child is kept in the house, amongst other things, to protect him or her against people who are ritually considered hot because of sexual intercourse) who are susceptible to disease or those posing a threat to cause disease in children under five. For example, since diarrhoea is perceived to be caused by, among other things, a child feeding on breast milk contaminated with sperms, informants said that there is a strong need for couples to observe postpartum sexual intercourse. A couple with newly delivered twins is isolated from the village because of the belief that children will swell if they came into contact with them. Local methods of disease prevention seem therefore to depend on what is perceived to be the cause of the illness and the decision to adopt specific preventive measures depends on, among other factors, the diagnosis of the cause and of who is vulnerable. The therapy-seeking process is a hierarchical movement within and between aetiologies; at the same time, it is not a random process, but an ordered process of choices in response to negative feedback, and subject to a number of factors, such as the aetiology of the disease, distance, social costs, cost of the therapeutic intervention, availability of medicines, etc. The movement between systems (i.e. from traditional medicine to biomedicine and vice-versa) during illness episodes depends on a number of factors, including previous experiences of significant others (i.e. those close to the patient), perceptions about the chances of getting healed, the decisions of the therapy management group, etc. For example, febrile illness in children under five may be treated using herbs or antipyretics bought from the local grocery shops. When the situation worsens (e.g. accompanied by convulsions), a herbalist will be consulted or the child may be taken to the local health centre. The local health centre refers such cases to the district hospital for treatment. Because of the rapidity with which the condition worsens, informants said that sometimes such children are believed to be bewitched, hence while biomedical treatment is sought, at the same time diviners are also consulted. The therapeutic strategies people resort to during illness episodes are appropriate rational decisions, based on prevailing circumstances, knowledge, resources and outcomes. Boundaries between the different therapeutic options are not rigid, as people move from one form of therapy to another and from one mode of classification to another. Lastly, perceptions about childhood diseases have changed over the years. Old men and women mostly attribute childhood illnesses to the infringement of taboos (e.g. on . sexual intercourse), witchcraft and other supernatural forces. While young men and women also subscribe to these perceptions, they have at the same time also appropriated the biomedical disease explanatory models. These biomedical models were learnt at school, acquired during health education sessions conducted by health workers in the communities as well as during under-five clinics, and health education programmes conducted on the national radio station. Younger people, more frequently than older people, thus move within and between aetiological models in the manner described above.
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Lenkiewicz, Marie. "Contribución al estudio del léxico médico del español medieval : "Secretos de medicina" del licenciado don Juan Enriquez y "Pronóstica del pseudo-Galeno"". Thesis, McGill University, 1987. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=63991.
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Kerr, Samantha Elizabeth. "The perception, aetiology and clinical assessment of restless legs syndrome and periodic limb movements". Thesis, 2013. http://hdl.handle.net/10539/12702.
Testo completoAbstract (sommario):
thesis submitted to the Faculty of Science, University of the Witwatersrand,
Johannesburg, in fulfilment of the requirements for the degree Doctor of Philosophy.
Johannesburg, 2013Restless Legs Syndrome (RLS) and Periodic Limb Movements (PLM) are common neurological disorders for which the underlying aetiology is not fully understood. Currently RLS and PLM are thought to be caused by a central deficiency of dopamine or other functional abnormalities of the central nervous system. The work included in this thesis investigated different new methods of assessing the sensory and motor features of RLS and PLM, in an attempt to extend our understanding of their aetiology and improve the accuracy of diagnosis of these conditions. The first two studies in the thesis described and characterized the sensations of RLS symptoms, and whether they are influenced by the presence of pain, in an English speaking South African population. The most frequently cited descriptors were different to those used in the current RLS diagnostic criteria. Inclusion of the most commonly used RLS descriptors in the diagnostic criteria may help to improve the accuracy of RLS diagnosis. Patients who experienced painful RLS had greater McGill Pain Questionnaire scores and used different terms to describe their RLS to those that did not have painful RLS sensations. The third project quantified the responses of the Hoffman and patellar reflexes in RLS patients using electromyography and kinematics. The RLS patients exhibited hyporeflexia in the evening compared to the morning, and compared to control participants. This data suggests that RLS is not the result of a global state of hyperexcitability, as the literature suggests, but may reflect more discrete functional abnormalities of the spinal cord. A diurnal variation in the patellar reflex was found, supporting the notion of circadian variations of spinal excitability in RLS patients. The final investigation assessed the sensory qualities (discomfort and pain) of RLS in conjunction with motor activity evoked by using the Suggested Immobilization Test. Despite rating significant levels of discomfort, the majority of the RLS patients did not exhibit PLM; possibly suggesting a disconnect between the sensory and motor components of RLS. In conclusion, it is the major finding of this thesis that inclusion of new assessment techniques for the measurement of sensory and motor features of RLS and PLM provides both new insights and potential clinical tools enhancing our understanding of these disorders.
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Hsieh, Alexander Lin. "Mosaicism and the genetic architecture of congenital heart disease". Thesis, 2020. https://doi.org/10.7916/d8-30fy-f349.
Testo completoAbstract (sommario):
Congenital heart disease (CHD) is characterized by structural defects of the heart and great vessels. It is the most common birth defect, affecting an estimated 1% of live births, and is the leading cause of mortality among birth defects. Despite recent progress in genetic research, more than 50% of CHD cases remain unexplained. An estimated 23% are due to aneuploidies and copy number variants and up to 30% has been attributed to de novo variation, though that number ranges between 3-30% depending on CHD complexity.
The contribution of somatic mosaicism, or de novo genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood due to limitations in sample size, detection method, and validation rate. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined. We developed a computational method, Expectation-Maximization-based detection of Mosaicism (EM-mosaic), to analyze mosaicism in exome sequences of 2530 CHD proband-parent trios. EM-mosaic accurately detected 309 mosaic mutations in blood, with 85 of 94 (90%) candidates tested independently confirmed. We found twenty-five likely damaging mosaics in plausible CHD-risk genes, affecting 1% of our cohort. Variants in these genes predicted as damaging had higher variant allele fraction than benign variants, suggesting a role in CHD. The frequency of protein-coding mosaic variants detectable in blood was 0.122 or roughly 1 in 8 individuals. Analysis of 66 individuals with matched cardiac tissue available revealed both tissue-specific and shared mosaicism, with shared mosaics generally having higher allele fraction.
CHD patients often present with comorbid cardiac and extracardiac anomalies that further their impact quality of life. Neurodevelopmental disorders (NDDs) are especially prevalent in CHD cases compared to the general population, yet the underlying genetic causes remain poorly explained. Further, patients with single ventricle defects undergoing surgery often later develop arrhythmias and experience worsening ventricular function. We used a statistical approach to dissect the association between de novo variation and these clinical outcomes and found that pleiotropic mutations contribute a large fraction of the risk of acquiring NDD and abnormal ventricular function phenotypes in CHD patients. We developed a proof-of-concept rare variant risk score that combines information from de novo, rare transmitted, and copy- number variants and show that prediction of outcomes such as NDD can be improved, especially in complex CHD cases.
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Boland, Mary Regina. "A Systems-Level Approach to Understand The Seasonal Factors Of Early Development With Clinical and Pharmacological Applications". Thesis, 2017. https://doi.org/10.7916/D8WQ0G21.
Testo completoAbstract (sommario):
Major developmental defects occur in 100,000 to 200,000 children born each year in the United States of America. 97% of these defects are from unidentified causes. Many fetal outcomes (e.g., developmental defects), result from interactions between genetic and environmental factors. The lifetime effects from prenatal exposures with low impact (e.g., air pollution) are often understudied. Even when these exposures are studied, the focus is often placed on immediate effects of the exposure (e.g., fetal anomalies, miscarriage rates) leaving lifetime effects largely unexplored. This makes prolonged (or lifetime) effects of low-impact exposures an understudied research area. Included in this set of low-impact exposures is seasonal variance at birth.
This thesis measures the effects of seasonal variance at birth on lifetime disease risk at both the population-level and molecular-levels. Four aims, comprising this thesis study, were conducted that utilize data from pharmacology, clinical care (Electronic Health Records) and genetics. These aims included: 1.) Development of an Algorithm to Reveal Diseases with a Prenatal/Perinatal Seasonality Component (described in chapter 2); 2.) Investigation of Climate Variables that Affect Lifetime Disease Risk By Altering Environmental Drivers (described in chapters 3 and 4); 3.) Discovery of Genes Involved in Birth Season – Disease Effects (described in chapter 5) and 4.) Investigation of Pharmacological Inhibitors As Phenocopies of the Birth Season – Disease Effect (described in chapters 6 and 7). Knowledge gained from these four areas, through seven distinct studies, establishes that birth season is a causal risk factor in a number of common diseases including cardiovascular diseases.
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"The effects of folic acid deficiency and defects in folate metabolism on chromosome damage in vitro / Jimmy Walter Crott". Thesis, 2001. http://hdl.handle.net/2440/21696.
Testo completoAbstract (sommario):
Reprints of the author's previously published articles included as an appendix.Bibliography: leaves 165-188.
xiv, 189 leaves : ill. (some col.) ; 30 cm.
"This thesis describes a series of experiments that aimed to investigate the effects of folic acid deficiency and defects in folate metabolism on chromosome damage rates in human lymphocytes. The accumulation of chromosome damage over time is an important issue because it is thought to contribute to the mechanism of ageing and the aetiology of diseases of age such as cancer and Alzheimer's disease."
Thesis (Ph.D.)--University of Adelaide, Dept. of Physiology, 2002?
Libri sul tema "Diseases Causes and theories of causation"
1
Cornelius, Margaret. Fiji non-communicable diseases (NCD) steps survey 2002. Suva, Fiji: Ministry of Health, 2002.
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2
Hurster, Madeline M. Communicable and non-communicable disease basics: A primer. Westport, Conn: Bergin & Garvey, 1997.
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3
B, Purtilo Ruth, a cura di. A survey of human diseases. 2a ed. Boston: Little, Brown, 1989.
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Cotran, Ramzi S. Robbins' pathologic basis of disease. 4a ed. Philadelphia: Saunders, 1989.
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Treichler, Markus. Neue Zeiten, neue Leiden: Zeittendenzen, Krankheitsbilder, Chancen. Stuttgart: Mayer, 1998.
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Zumaylī, Zuhayr Muḥammad. Li-mādhā jaʻala Allāh al-amrāḍ!?: Min ḥikam khalq Allāh lil-amrāḍ. ʻAmmān, al-Urdun: Dār al-Furqān, 1988.
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Kroeger, Hanna. The basic causes of modern diseases and how to remedy them. Carlsbad, CA: Hay House, 1998.
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1914-, Doerr Wilhelm, Becker V e Schipperges Heinrich, a cura di. Krankheitsbegriff, Krankheitsforschung, Krankheitswesen: Wissenschaftliche Festsitzung der Heidelberger Akademie der Wissenschaften zum 80. Geburtstag von Wilhelm Doerr. Berlin: Springer, 1995.
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MacCallum, W. G. A textbook of pathology. Philadelphia: W.B. Saunders, 1996.
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Adami, J. George. Pathological notes. Montreal: J. Lovell, 1985.
Cerca il testo completoCapitoli di libri sul tema "Diseases Causes and theories of causation"
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Shaw, James A. "Historical Theories of Disease Causation, Prevention, and Cure". In Historical Diseases from a Modern Perspective, 1–13. Cham: Springer Nature Switzerland, 2024. http://dx.doi.org/10.1007/978-3-031-52346-5_1.
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Loke, Andrew. "Causation and Laws of Nature". In The Teleological and Kalam Cosmological Arguments Revisited, 37–70. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-94403-2_2.
Testo completoAbstract (sommario):
AbstractI define the key terms of the Causal Principle, namely ‘whatever’, ‘begins to exist’, and ‘cause’, and the related terms ‘time’, ‘eternal’, ‘event’, ‘change’, ‘perdurantism’, and ‘uncaused’. In particular, something has a beginning if it has a temporal extension, the extension is finite, and it has temporal edges/boundaries, that is, it does not have a static closed loop or a changeless/timeless phase that avoids an edge. This definition is compatible with both dynamic and static theories of time. While causal eliminativists and causal reductionists have claimed that causation has no basis in fundamental physics others have replied that fundamental physics does not provide a complete description of reality, and that it does not exclude causation and causal properties which operate at a more fundamental level as the ground of the regularities described by fundamental physics (Weaver, Fundamental Causation: Physics, Metaphysics, and the Deep Structure of the World. London: Routledge, 2019). Quantum physics has not shown that the Causal Principle is violated given that (1) quantum particles emerge from the quantum vacuum which is not non-being but something with vacuum fields, (2) radioactive disintegration of atomic nuclei exhibit statistical regularities that strongly indicate the existence of more fundamental ordered causes, and (3) many different interpretations of quantum physics exist, and some are perfectly deterministic.
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Gentilcore, David, e Egidio Priani. "The Aetiological Turn (The Nineteenth Century)". In Mental Health in Historical Perspective, 41–54. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-22496-6_3.
Testo completoAbstract (sommario):
AbstractBeginning in the 1830s, medical investigators began to think of organic disorders as having single causes that were both universal and necessary. For this to be possible required a radical shift in the way doctors defined diseases: from symptoms to causes. The so-called aetiological approach to disease meant that every case of the disease had the same cause. This, in turn, meant that any prophylactic or therapeutic measures directed at that cause, which were effective in one case, would be effective in every case. The crux of the matter now shifted to identifying a disease’s causation, beyond dispute. And when it came to pellagra, this was precisely the problem. By the middle of the nineteenth century, all the medical actors involved agreed on the close link between pellagra and maize consumption. What they disagreed on was the exact causal nature of that link, propounding two divergent, indeed mutually exclusive, explanatory models. How the cultural dominance of one explanatory model, at the expense of another, came about; what it tells us about the nature of Italian medical science in the second half of the nineteenth century; and what its dominance meant for sufferers, is the subject of this chapter.
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Shmidt, Victoria. "Vitalist Arguments in the Struggle for Human (Im)Perfection: The Debate Between Biologists and Theologians in the 1960s–1980s". In History, Philosophy and Theory of the Life Sciences, 217–38. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-12604-8_12.
Testo completoAbstract (sommario):
AbstractIn this chapter, I explore and offer critical reflections on the widespread practice of attributing negative value to “vital forces” in debates on health and disease, as the direct result of the extensive dissemination of genetics and its implications since the late 1960s. This historical reconstruction focuses on the most heated debates in popular science periodicals and editions, having the longest-lasting public “echo,” which have shaped an intergenerational continuity in the reproduction of vitalist arguments in discursive practices regarding health, disease, and their genetic factors.Mapping attacks on vital forces as various forms of negation addresses three different debates in the historically interrelated repertoire of potentially rival approaches to health, disease, and their genetic components: (1) the attribution of negative value to primal instinct as an obstacle to the progress of human civilization; (2) the normative vitalism mainly associated with French philosophers George Canguilhem, Michel Foucault, and Gilles Deleuze; and (3) the movement for the deinstitutionalization of health care within the negative theology presented by Ivan Illich.The reproduction of vitalist arguments in the each of the three realms is seen as a historical continuity of the medical vitalism that appeared in the Enlightenment and that produced a less monolithic and more conceptually coherent continuum of the positions regarding health, diseases, and their causes. In line with the Lakatosian division into internalist and externalist histories of science, I focus on the multiple functions of vitalist arguments: as a main force in the contest among rival theories regarding health and disease (as a part of the internalist narrative); as a signifier of the boundary work delineating science and not-science, whether labeled as theology or as “bad” science aimed at legitimizing science (as a part of externalist history); and as an ideological platform for bridging science and its performance in policies concerning reproduction .
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Loomis, Dana, e Steve Wing. "Theories of Causation". In Epiden1iologic Methods for the Study of Infectious Diseases, 43–55. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195121124.003.0003.
Testo completoAbstract (sommario):
Abstract How does scientific work, including epidemiology, relate to knowing the causes of events, why things happen? How do we decide on the cause of a person’s disease was it the germ, un boiled water, inadequate knowledge about health behaviors, poor nutrition, lack of water purification, poverty, economic inequality, or a legacy of racist colonial development? And how do we make judgments not only about a particular case of disease but about the cause of disease in general? These questions are critically important because the scientific answers play a role in public health action and policy, both in justifying continuation of accepted practices and in promoting different approaches. This chapter reviews the topic of causal thinking in epidemiology, with a focus on infectious diseases.
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Brewer, George J. "The Copper Hypothesis Fits Nicely With Known Risk Factors and Theories of Alzheimer’s Disease Causation". In Environmental Causes and Prevention Measures for Alzheimer's Disease, 101–5. Elsevier, 2018. http://dx.doi.org/10.1016/b978-0-12-811162-8.00010-x.
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Krieger, Nancy. "Contemporary Mainstream Epidemiologic Theory". In Epidemiology and the People's Health, 149–93. 2a ed. Oxford University Press, 2024. http://dx.doi.org/10.1093/oso/9780197695555.003.0005.
Testo completoAbstract (sommario):
Abstract Chapter 5 critically examines the origins, assumptions, and features of theories dominant since the 1950s: the biomedical model and lifestyle theories of disease distribution. The chapter analyzes these theories in their societal and ecological context, including the Cold War and rise of methodological individualism in the social sciences. It explores the foundations these theories of disease distribution set for the “spiderless” web of causation, still spinning since its formulation in the 1960s. It also examines their role in entrenching reductionist approaches to analyzing and intervening upon population health and health inequities, and their emphasis on disease mechanisms over causes of disease distribution. Revision updates to this chapter include new work regarding precision medicine, evolutionary medicine, analysis of gene-environment interactions, and the “developmental origins of adult health and disease” (DoHAD).
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Noordhof, Paul. "Processes and Prevention". In A Variety of Causes, 305–43. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780199251469.003.0011.
Testo completoAbstract (sommario):
The proposed analysis of causation is compatible with allowing that there are ways to distinguish the variety that falls under it. The same characteristics as those who take causation to involve substantial causal processes characterize kinds of causation without these characteristics themselves serve to characterize causation in general. This is an advantage because the theories that make an appeal to substantial processes in understanding causation face considerable difficulties. The attempt to tie causation to the presence of substantial causal processes between cause and effect fails to be justified by appeal to responsibility, or by its capacity to make sense of causal locality and the intrinsic character of causal processes. Some claim that a counterfactual theory closes off certain options with regard to the property understanding of Bell inequalities. This is not the case.
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Bobzien, Susanne. "Chrysippus’ Theory of Causes". In Topics in Stoic Philosophy, 196–242. Oxford University PressOxford, 1999. http://dx.doi.org/10.1093/oso/9780198237686.003.0009.
Testo completoAbstract (sommario):
Abstract We know very little about Chrysippus’ theory of causation. Our textual evidence which names Chrysippus directly and can be straightforwardly considered as belonging to a theory of causes is this: a passage in Stobaeus (Eel. 1.138.23-139.4) that presents Chrysippus’ basic account of causation; a distinction of causes in Cicero’s On Fate (Fat. 41-5); and an indirect reference to a distinction of causes in Plutarch’s On Stoic Self-Contradictions (Stoic rep., ch. 47).various works by Galen, Sextus’ Outlines of Pyrrhonism book 3 and Against the Mathematicians book 9, and Clement’s Miscellanies book 8.9 we find excerpts and summaries of causal theories of medical, later Stoic, and Peripatetic origin. (A trace of a later Stoic theory of causes can be found in Alexander of Aphrodisias’ On Fate 192.18-19.) The reports are mainly eclectic in character, often uncritically juxtaposing and mixing together various theories. But they have one thing in common: they treat the theories they report as finished taxonomies of causes. They present sets of technical terms that are used as names for mutually exclusive classes of causes, so that it is possible to assign any cause to precisely one class (and naturally there are no empty classes). In most cases, causes of more than one type are described as cooperating in one instance of causation.
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Noordhof, Paul. "Agency, Intervention, and the Past". In A Variety of Causes, 382–423. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780199251469.003.0013.
Testo completoAbstract (sommario):
Although agency theories of causation are unsuccessful, they draw on two plausible contributions to the analysis of causation: a characterization of agent non-symmetry in terms of effective means and an insight into nature of the similarity weighting for counterfactuals. A development of evidential decision theory provides the most immediately plausible way of understanding agency asymmetry. However, a problem with the proposed development reveals the importance of causal thinking—captured in causal decision theory—in characterizing when an action fails to be the most effective means to a certain end. Non-reductive interventionist approaches to causation are unnecessary because the recommended similarity weighting captures the appropriate notion of intervention. The recommended approach to causal non-symmetry can explain the fact that, metaphysically necessarily, causes usually precede their effect because temporal direction is preponderant causal direction. The non-symmetry of agency is related to two de facto asymmetries relating to knowledge and intervention.
Atti di convegni sul tema "Diseases Causes and theories of causation"
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Weiner, Frank H. "Learning from Leibniz: Navigating the Twin Labyrinths of Academia and Practice". In 2019 ACSA Teachers Conference. ACSA Press, 2019. http://dx.doi.org/10.35483/acsa.teach.2019.45.
Testo completoAbstract (sommario):
This essay is prompted by a single phrase embedded in the call for papers – “…the best of all available knowledge…” It would be easy to overlook the significance of this brief extracted fragment by taking for granted we know and understand what is indeed the best in the context of the education of an architect. Within the overall frame-work of the conference such considerations could be seen as offering a relevant dialectical antithesis to the main thesis of the conference. It is important to consider how questions of the ‘best’ in relation to knowledge have come to be seen by some as being of lesser importance in our conversations about education. If we do not strive for what is the best then we may loose an overall sense of telos or purposiveness in our various endeavors. The best is the highest good (both in theory and practice). So the best is at least a double condition rather than a singular condition. In Aristotle’s Eudemian Ethics there are no less than three philosophical meanings of the word “best”. First there is best as the Idea of the good (here Idea in a Platonic sense and the good are synonymous), secondly the best as the common good and thirdly the best in a practical sense. There is then a noble best and a practical best.The viability of the conference theme on “The Practice of Teaching and the Teaching of Practice: The Teacher’s Hunch” may actually rely upon establishing a foundation for determining what the best of all available knowledge consists of towards our common pursuits. Here one might propose the word ‘available’ be replaced by the word ‘possible’ so the fragment would now read – the best of all possible knowledge. The distinction between availability and possibility although seemingly minor becomes a crucial one. Availability has to do with use and acquisition in the sense that something or someone is either available or is not available. The notion of availability lacks the gravitas of possibility that can lead to actuality. With the idea of possibility emerges the transcendental question of the freedom for good and evil adjudicated under a form of divine justice. Invoking possibility over availability is an acknowledgment of the perennial importance of the ancient Aristotelian dyad of potency/act in the deeper back-ground of our theories and practices. In a world of crass availabilities, “need is so many bananas”. In what follows the word “knowledge” is understood in Aristotelian sense of the fourfold of causation giving us the possibility to bring forth what we know, what Heidegger poeticized as modes of occasioning – the material, formal, efficient and final causes.