Rapid Automatized Naming (RAN) is considered a universal marker of developmental dyslexia (DD) and could also be helpful to identify a reading deficit in minority-language children (MLC), in which it may be hard to disentangle whether the reading difficulties are due to a learning disorder or a lower proficiency in the language of instruction. We tested reading and rapid naming skills in monolingual Good Readers (mGR), monolingual Poor Readers (mPR), and MLC, by using our new version of RAN, the RAN-Shapes, (...) in 127 primary school students (from 3rd to 5th grade). In line with previous research, MLC showed, on average, lower reading performances as compared to mGR. However, the two groups performed similarly to the RAN-Shapes task. On the contrary, the mPR group underperformed both in the reading and the RAN tasks. Our findings suggest that reading difficulties and RAN performance can be dissociated in MLC; consequently, the performance at the RAN-Shapes may contribute to the identification of children at risk of a reading disorder without introducing any linguistic bias, when testing MLC. (shrink)

Orphan drug policy often gives ‘special treatment’ to rare diseases, by giving additional priority or making exceptions to specific drugs, based on the rarity of the conditions they aim to treat. This essay argues that the goal of orphan drug policy should be to make prevalence irrelevant to funding decisions. It aims to demonstrate that it is severity, not prevalence, which drives our judgments that important claims are being overlooked when treatments for severe rare diseases are not funded. (...) It shows that prioritising severity avoids problems caused by prioritising rarity, and that it is compatible with a range of normative frameworks. The implications of a severity-based view for drug development are then derived. The severity-based view also accounts for what is wrong with how the current system of drug development unfairly neglects common diseases that burden the developing world. Lastly, the implications of a severity-based view for current orphan drug policies are discussed. There are no data in this work. (shrink)

Microsomal glucose‐6‐phosphatase catalyses the last step in liver glucose production. Glucose‐6‐phosphatase deficiency, now termed type 1 glycogen storage disease, was first described almost 40 years ago but until recently very little was known about the molecular basis of the various type 1 glycogen storage diseases. Recently we have shown that at least six different proteins are needed for normal glucose‐6‐phosphatase activity in liver. Four of the proteins have been purified and three cloned. Study of the type 1 glycogen storage (...) diseases has stimulated investigations of the mechanisms of small molecule transport across the endoplasmic reticulum membrane and demonstrated the existence of novel endoplasmic reticulum transport proteins for glucose and phosphate. (shrink)

It is generally accepted that prion infection is due solely to a protein i.e. the protein-only hypothesis. The essential constituent of infectious prions is the scrapie prion protein (PrPSc) which is chemically indistinguishable from the normal, cellular protein (PrPC) but exhibits distinct secondary and tertiary structure. This very unusual feature seems to be in contradiction with a major paradigm of present structural biology stated by Anfinsen: a protein folds to the most stable conformation, this means only one structure.In order to (...) reconcile the results obtained on prions with the biophysics of protein folding, a model is proposed. It is based on the hypothesis that a thermodynamically irreversible step is involved in protein folding. The model is then extended to chaperone-assisted protein folding. It is shown that, under certain conditions, the transitory secondary structure formed during the earlier step of folding could interact with chaperone. Analysis shows that chaperone may help the protein to find correct conformation. On the other hand, analysis reveals the possibility that more than one structure may form from a single polypeptide chain. Under these conditions, the behaviour of chaperones resembles the characteristics of prion diseases. (shrink)

Many experts have warned that environmental degradation is increasing the likelihood of future pandemics like COVID-19, as habitat loss and poaching increase close contact between wildlife and people. This fact has been framed as a reason to increase wildlife conservation efforts. We have many good reasons to step up conservation efforts, but arguments for doing so on the basis of pandemic prevention are rhetorically, ethically, and empricially flawed.

There is no doubt that custard apple diseases are among the important reasons that destroy the Custard Apple plant and its agricultural crops. This leads to obvious damage to these plants and they become inedible. Discovering these diseases is a good step to provide the appropriate and correct treatment. Determining the treatment with high accuracy depends on the method used to correctly diagnose the disease, expert systems can greatly help in avoiding damage to these plants. The expert system (...) correctly diagnoses Custard Apple disease to make it easier for farmers to find the right treatment based on the appropriate diagnosis. Objectives: A specialized syllable language system was established for the diagnosis of Custard Apple plant disease. (shrink)

La Ética es la parte de la filosofía práctica que se ocupa del hecho moral y de los problemas filosóficos que nacen de la conducta humana, la bioética resulta la rama de la ética que se dedica a proveer los principios para la correcta conducta humana; respecto a la vida. En el proceso de atención a los pacientes con enfermedades reumáticas se emplean variados procedimientos. Las nuevas tecnologías han mejorado notablemente su tratamiento integral; estos adelantos científicos deben ser empleados con (...) la intención fundamental de no producir daño y previo consentimiento informado; por lo que resulta necesario argumentar acerca de las implicaciones bioéticas que resultan del empleo de los avances científico-tecnológicos en el tratamiento a los pacientes con enfermedades reumáticas. Ethics is the part of Practical Philosophy that deals with moral facts and philosophical problems that have their roots in human behavior. Bioethics is the branch of Ethics devoted to providing the principles for correct human behavior, with respect to life. Various procedures are used when treating patients with rheumatic diseases. New technologies have considerably improved their integral treatment; these scientific advances must be used with the main purpose of causing no harm and with prior informed consent. Therefore, it is necessary to argue on the bioethical implications that turn out from the use of scientific-technological advances in the treatment of patients with rheumatic diseases. (shrink)

Pandemic plans recommend phases of response to an emergent infectious disease outbreak, and are primarily aimed at preventing and mitigating human-to-human transmission. These plans carry presumptive weight and are increasingly being operationalized at the national, regional and international level with the support of the World Health Organization. The conventional focus of pandemic preparedness for EIDs of zoonotic origin has been on public health and human welfare. However, this focus on human populations has resulted in strategically important disciplinary silos. As the (...) risks of zoonotic diseases have implications that reach across many domains outside traditional public health, including anthropological, environmental, and veterinary fora, a more inclusive ecological perspective is paramount for an effective response to future outbreaks. (shrink)

Purposeful infection of healthy volunteers with a microbial pathogen seems at odds with acceptable ethical standards, but is an important contemporary research avenue used to study infectious diseases and their treatments. Generally termed ‘controlled human infection studies’, this research is particularly useful for fast tracking the development of candidate vaccines and may provide unique insight into disease pathogenesis otherwise unavailable. However, scarce bioethical literature is currently available to assist researchers and research ethics committees in negotiating the distinct issues raised (...) by research involving purposefully infecting healthy volunteers. In this article, we present two separate challenge studies and highlight the ethical issues of human challenge studies as seen through a well-constructed framework. Beyond the same stringent ethical standards seen in other areas of medical research, we conclude that human challenge studies should also include: independent expert reviews, including systematic reviews; a publicly available rationale for the research; implementation of measures to protect the public from spread of infection beyond the research setting; and a new system for compensation for harm. We hope these additions may encourage safer and more ethical research practice and help to safeguard public confidence in this vital research alternative in years to come. (shrink)

This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular (...) dystrophy, myotonic dystrophy and epilepsy, are included.Where possible, a. (shrink)

Neglected tropical diseases are defined operationally as diseases that prevail in “tropical” regions and are under‐researched, under‐funded, and under‐treated compared with their disease burden. By analysing the adjectives “tropical” and “neglected,” I expose and interrogate the discourses within which the term “neglected tropical disease” derives its meaning. First, I argue that the term “tropical” conjures the notion of “tropicality,” a form of Othering which erroneously explains the disease‐prevalence of “tropical” regions by reference to environmental determinism, rather than colonialism (...) and neocolonialism. Second, I examine the way in which this Othering enables the abjection of tropical regions and their peoples, leading to neglect. I recommend that the term “neglected tropical diseases” be more carefully contextualised within health scholarship, education, and policy. (shrink)

While Quine’s linguistic behaviorism is well-known, his Kant Lectures contain one of his most detailed discussions of behaviorism in psychology and the philosophy of mind. Quine clarifies the nature of his psychological commitments by arguing for a modest view that is against ‘excessively restrictive’ variants of behaviorism while maintaining ‘a good measure of behaviorist discipline…to keep [our mental] terms under control’. In this paper, I use Quine’s Kant Lectures to reconstruct his position. I distinguish three types of behaviorism in psychology (...) and the philosophy of mind: ontological behaviorism, logical behaviorism, and epistemological behaviorism. I then consider Quine’s perspective on each of these views and argue that he does not fully accept any of them. By combining these perspectives we arrive at Quine’s surprisingly subtle view about behaviorism in psychology. (shrink)

Anthropogenic climate change is causing temperature rise in temperate zones resulting in climate conditions more similar to subtropical zones. As a result, rising temperatures increase the range of disease-carrying insects to new areas outside of subtropical zones, and increased precipitation causes flooding that is more hospitable for vector breeding. State governments, the federal government, and governmental agencies, like the Animal and Plant Health Inspection Service of USDA and the National Notifiable Disease Surveillance System of the U.S. Centers for Disease Control (...) and Prevention, lack a coordinated plan for vector-borne disease accompanying climate change. APHIS focuses its surveillance primarily on the effect of illness on agricultural production, while NNDSS focuses on the emergence of pathogens affecting human health. This article provides an analysis of the current framework of surveillance of, and response to, vector-borne infectious diseases, the impacts of climate change on the spread of vector-borne infectious diseases, and recommends changes to federal law to address these threats. (shrink)

It is important to determine the attitudes of employees towards occupational accidents and diseases and whether these events are perceived as inevitable or out of control. Inaccurate interpretation of the perception of fatalism towards occupational accidents and diseases may lead to more occupational accidents and diseases. The use of scales to determine the perception of fatalism in the context of occupational accidents and diseases allows for a quantitative assessment of these issues. This approach makes it possible (...) to objectively measure and analyze the perception of fatalism, thus paving the way for a more in-depth examination of related phenomena. This study is a scale development study to determine the level of fatalism towards occupational accidents and diseases. This methodological study was conducted between October 2021 and June 2023. The scale was shaped by taking expert opinions for the scale items prepared by making use of the literature, pre-applied and pilot applied with 75 people; Exploratory Factor Analysis and Confirmatory Factor Analysis were conducted with 242 people; and all evaluated with validity and reliability analyzes. In the exploratory factor analysis for the developed scale of fatalism towards occupational accidents and diseases, it was seen that the scale items were gathered under 4 factors and the explanatory coefficient was 53.68%. In order to measure the applicability of exploratory factor analysis for the scale, KMO value was 0.854 and Bartlett's Test of Sphericity value was χ2=1996.527; df=153, p. (shrink)

Many countries in Africa, and more generally those in the Global South with tropical areas, are plagued by illnesses that the wealthier parts of the world (mainly ‘the West’) neither suffer from nor put systematic effort into preventing, treating or curing. What does an ethic with a recognizably African pedigree entail for the ways various agents ought to respond to such diseases? As many readers will know, a characteristically African ethic prescribes weighty duties to aid on the part of (...) those in a position to do so, and it therefore entails that there should have been much more contribution from the Western, ‘developed’ world. However, what else does it prescribe, say, on the part of sub-Saharan governments and the African Union, and are they in fact doing it? I particularly seek to answer these questions here, by using the 2013-16 Ebola crisis in West Africa to illustrate what should have happened but what by and large did not. (shrink)

Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene‐specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene‐specific probe is not available, defects have been localized to chromosomal regions by family studies. (...) Recently developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders. (shrink)

Common monogenic genetic diseases, ones that have unexpectedly high frequencies in certain populations, have attracted a great number of conflicting evolutionary explanations. This paper will attempt to explain the mystery of why two particularly extensively studied common genetic diseases, Tay Sachs disease and cystic fibrosis, remain evolutionary mysteries despite decades of research. I review the most commonly cited evolutionary processes used to explain common genetic diseases: reproductive compensation, random genetic drift (in the context of founder effect), and (...) especially heterozygote advantage. The latter process has drawn a particularly large amount of attention, having so successfully explained the elevated frequency of sickle cell anemia in malaria-endemic areas. However, the empirical evidence for heterozygote advantage in other common genetic diseases is quite weak. I introduce and illustrate the significance of a hierarchy of genetic disease phenomena found within the genetic disease explanations, which include the phenomena: single mutation variants of a common genetic disease, single genetic diseases, and classes of diseases with related phenotypic effects. I demonstrate that some of the confusion over the explanations of common genetic diseases can be traced back to confusions over which phenomena are being explained. I proceed to briefly evaluate the existing evidence for two common human genetic diseases: Tay Sachs disease and cystic fibrosis. The above considerations will ultimately shed light on why these diseases’ evolutionary explanations remain so deeply unresolved after so such a great volume of research. (shrink)

A new analysis of the Best Interests Standard is given and applied to the controversy about testing children for untreatable, severe late-onset genetic diseases, such as Huntington's disease or Alzheimer's disease. A professional consensus recommends against such predictive testing, because it is not in children's best interest. Critics disagree. The Best Interests Standard can be a powerful way to resolve such disputes. This paper begins by analyzing its meaning into three necessary and jointly sufficient conditions showing it: is an (...) "umbrella" standard, used differently in different contexts, has objective and subjective features, is more than people's intuitions about how to rank potential benefits and risks in deciding for others but also includes evidence, established rights, duties and thresholds of acceptable care, and can have different professional, medical, moral and legal uses, as in this dispute. Using this standard, support is given for the professional consensus based on concerns about discrimination, analogies to adult choices, consistency with clinical judgments for adults, and desires to preserve of an open future for children. Support is also given for parents' legal authority to decide what genetic tests to do. (shrink)

BackgroundChronic airway diseases are prevalent and costly conditions. Interdisciplinary rehabilitation programs that include Acceptance and Commitment-based components could be important to tackle the vicious circle linking progression of the disease, inactivity, and psychopathological symptoms.MethodsA retrospective evaluation of routinely collected data of an interdisciplinary rehabilitation program was performed. The program included group sessions including patient education, breathing exercise, occupational therapy and an ACT-based psychological treatment, and individual sessions of physical therapy. Demographic data, clinical characteristics of the patients and the values (...) of outcome variables before treatment, at discharge, at 3 months, and at 6 months were extracted from medical records. Multiple imputation was employed to address missing data. Linear mixed models were employed to assess changes over time. Multivariable logistic regression was performed to assess predictors of a minimum clinically important change of health status from baseline to the 6-months follow-up.ResultsData from 31 patients with chronic obstructive pulmonary disease and 12 patients with bronchiectasis were extracted. Health status improved from baseline to discharge to the 3 months follow-up, but not to the 6 months follow-up. Anxiety and depression improved across all the time points. Quality of life did not improve over time. Having a worse health status at baseline and fewer depressive symptoms were significantly associated with achieving a minimum clinically important change of health status at 6 months. The effects of the interdisciplinary program were not different for patients with COPD or with bronchiectasis.DiscussionInterdisciplinary programs including ACT-based components are promising treatments for the rehabilitation of patients with chronic airway diseases. (shrink)

This paper examines the characteristics of infectious diseases that raise special medical and social ethical issues, and explores ways of integrating both current bioethical and classical public health ethics concerns. Many of the ethical issues raised by infectious diseases are related to these diseases’ powerful ability to engender fear in individuals and panic in populations. We address the association of some infectious diseases with high morbidity and mortality rates, the sense that infectious diseases are caused (...) by invasion or attack on humans by foreign micro‐organisms, the acute onset and rapid course of many infectious diseases, and, in particular, the communicability of infectious diseases. The individual fear and community panic associated with infectious diseases often leads to rapid, emotionally driven decision making about public health policies needed to protect the community that may be in conflict with current bioethical principles regarding the care of individual patients. The discussion includes recent examples where dialogue between public health practitioners and medical‐ethicists has helped resolve ethical issues that require us to consider the infected patient as both a victim with individual needs and rights and as a potential vector of disease that is of concern to the community. (shrink)

With the aid of the Cahiers de laboratoire, the Correspondance and, of course, the Oeuvre de Pasteur, this work reconstructs the extraordinary scientific undertakings of the great French scientist in his study of silkworm diseases. The focus of this study consists in the attempt to explain the initial perplexing behaviour of Pasteur, even in the presence of correct interpretations regarding the causes of these diseases (cfr. the results obtained by Béchamp); for a good three years he insisted on (...) maintaining that the aetiology of silkworm diseases could not be attributed to pathogenetic germs from outside. And this was in spite of the fact that previously (through fermentation and spontaneous generation) he had been able to demonstrate the importance of micro-organisms in biological processes. Finally it is intended to highlight the extraordinary methodological depth of that initial 'error', which was capable of paving the way for the future conquests of Pasteur in the field of aetiology and the prevention of infectious diseases. (shrink)

Neurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-based medicine (EBM), which prioritizes certain types of evidence over others, poses a particular issue when mapped onto rare diseases, which may not be feasibly investigated using the methodologies endorsed by EBM, due to a number of constraints. While other trial designs have been suggested (...) to overcome these limitations (with varying success), perhaps the most recent and enthusiastically adopted is the application of artificial intelligence to rare disease data. This paper critically examines the pitfalls of EBM (and its trial design offshoots) as it pertains to rare diseases, exploring the current landscape of AI as a potential solution to these challenges. This discussion is also taken a step further, providing philosophical commentary on the weaknesses and dangers of AI algorithms applied to rare disease research. While not proposing a singular solution, this article does provide a thoughtful reminder that no ‘one-size-fits-all’ approach exists in the complex world of rare diseases. We must balance cautious optimism with critical evaluation of new research paradigms and technology, while at the same time not neglecting the ever-important aspect of patient values and preferences, which may be challenging to incorporate into computer-driven models. (shrink)

: The main contribution of this paper to current philosophical and sociological studies on modeling is to analyze modeling as an object-oriented interdisciplinary activity and thus to bring new insights into the wide, heterogeneous discourse on tools, forms and organization of interdisciplinary research. A detailed analysis of interdisciplinarity in the making of models is presented, focusing on long-standing interdisciplinary collaboration between specialists in infectious diseases, mathematicians and computer scientists. The analysis introduces a novel way of studying the elements of (...) the models as carriers of interdisciplinarity. These elements, being functionally interdependent building blocks, evolve during the modeling work and carry the disciplinary tensions in the process. This shows how the long and challenging process of defining and reformulating the object of research is crucial for understanding the dynamics of interdisciplinarity in the making. (shrink)

Our goal was to explore self‐care practices among men who have sex with men in the context of Mpox in Brazil. This study used qualitative research methods, including interviews and thematic analysis, to collect and analyze data from male participants across the Brazilian territory. The narratives unveil men's perspectives on self‐care, risk reduction, and health beliefs during the Mpox pandemic. Our findings highlight a multifaceted approach to self‐care among men, encompassing hygiene, physical contact management, mask usage, skin lesion vigilance, and (...) adherence to official guidelines. Men's attitudes toward sexual behaviors emphasize the importance of reducing sexual partners, practicing safe sex, and combating misinformation through accurate information dissemination. The development of these behaviors and self‐care practices can be facilitated by nurses guided by Dorothea Orem's Self‐Care Theory, supported by patient‐centered care, with strategies to address and confront the stigma associated with the disease and provide emotional support. Thus, the study underscores the pivotal role of self‐care in mitigating infection risks, especially in the context of emerging infectious diseases. It acknowledges the impact of socio‐cultural factors and healthcare policies on men's preventive measures. However, it also recognizes limitations, such as potential bias due to stigma concerns and a nonrepresentative sample. Ultimately, the research advocates for tailored education, promotion of gender equity, and healthcare empowerment to effectively manage health risks in such contexts. (shrink)

A comprehensive understanding of the cerebrospinal fluid system is essential for our understanding of health and disease within the central nervous system. The system of CSF refers to all components involved in CSF production, movement, and absorption. In recent years, extensive research has resulted in vastly improved understanding of the CSF system in health and disease. Yet, several aspects remain to be fully clarified, notably along the spinal cord as the preponderance of research has focused on the brain. This review (...) briefly summarizes the CSF system and its implications for CNS diseases and highlights the knowledge gaps that require further research. (shrink)

After witnessing extraordinary scientific and regulatory efforts to speed development of and access to new COVID-19 interventions, patients facing other serious diseases have begun to ask “where’s...

The complex sensation of vision begins with the relatively simple photoisomerization of the visual pigment chromophore 11-cis-retinal to its all-trans configuration. This event initiates a series of biochemical reactions that are collectively referred to as phototransduction, which ultimately lead to a change in the electrochemical signaling of the photoreceptor cell. To operate in a wide range of light intensities, however, the phototransduction pathway must allow for adjustments to background light. These take place through physiological adaptation processes that rely primarily on (...) Ca2+ ions. While Ca2+ may modulate some activities directly, it is more often the case that Ca2+-binding proteins mediate between transient changes in the concentration of Ca2+ and the adaptation processes that are associated with phototransduction. Recently, combined genetic, physiological, and biochemical analyses have yielded new insights about the properties and functions of many phototransduction-specific components, including some novel Ca2+-binding proteins. Understanding these Ca2+-binding proteins will provide a more complete picture of visual transduction, including the mechanisms associated with adaptation, and of related degenerative diseases. BioEssays 22:337–350, 2000. © 2000 John Wiley & Sons, Inc. (shrink)

Evidence for recombination suppression has been identified in linkage studies of several unstable DNA diseases. Also sex‐specific changes in recombination frequency have been detected at the loci of Huntington's disease and myotonic dystrophy. It can be hypothesized that meiotic recombination is regulated by genome‐wide genomic imprinting and that changes in meiotic recombination imply the presence of the genomic imprinting defect. If aberrant recombination at the locus of trinucleotide repeat expansion is verified, new theoretical and experimental opportunities will arise in (...) studies on the role of genomic imprinting in the unstable DNA diseases. (shrink)

Background: Arthritis is very common but is not well understood. Actually, “arthritis” is not a single disease; it is an informal way of referring to joint pain or joint disease. There are more than 100 different types of arthritis and related conditions. People of all ages, sexes and races can and do have arthritis, and it is the leading cause of disability in America. More than 50 million adults and 300,000 children have some type of arthritis. It is most common (...) among women and occurs more frequently as people get older. Common arthritis joint symptoms include swelling, pain, stiffness and decreased range of motion. Symptoms may come and go. They can be mild, moderate or severe. They may stay about the same for years, but may progress or get worse over time. Severe arthritis can result in chronic pain, inability to do daily activities and make it difficult to walk or climb stairs. Arthritis can cause permanent joint changes. These changes may be visible, such as knobby finger joints, but often the damage can only be seen on X-ray. Some types of arthritis also affect the heart, eyes, lungs, kidneys and skin as well as the joints. Objectives: The main goal of this expert system is to get the appropriate diagnosis of disease and the correct treatment and give the appropriate method of treatment through several tips that concern the disease and how to treat it and we will see it through the application on the expert system. Methods: in this paper the design of the proposed Expert System which was produced to help Orthopedist in diagnosing Arthritis disease through its symptoms such as: pain on pressure in a joint , Inflammation indicated by joint swelling, Stiffness especially in the morning , Loss of flexibility of joint, Limited, joint movement, Deformity of the joints , Weight loss and fatigue , Non-specific fever and Crepitus. The proposed expert system presents an overview about Arthritis disease is given, the cause of diseases is outlined and the treatment of disease whenever possible is given out. SL5 Object Expert System language was used for designing and implementing the proposed expert system. Results: The proposed Arthritis disease diagnosis expert system was evaluated by Orthopedics students and they were satisfied with its performance. Conclusions: The Proposed expert system is very useful for Orthopedist, patients with arthritis and newly graduated Orthopedics students. (shrink)

Most rare diseases are poorly understood, affected individuals struggle tobe timely diagnosed and to access tailored, appropriate, and affordablecare. Following pragmatist theory, individuals living with rare diseasesmay experience these obstacles as morally problematic situations, wherethey struggle with actualizing their cherished values amid their lifecircumstances. These embedded and contextualized lived episodes aredistinct from moral challenges and moral issues, which are more abstract,decontextualized, and speculative moral matters. We sought to uncoverthe moral matters of adults living with rare diseases in the (...) qualitativeliterature while elucidating the moral dimensions of morally problematicsituations. Moral matters were extracted from 25 qualitative studies andsubjected to thematic and interpretive analyses. The uncovered moralissues addressed abstract considerations relating to accessibility, limitedknowledge, and unpredictability of illness manifestations. Moralchallenges and morally problematic situations spanned across the fourphases of the medical trajectory: the diagnostic odyssey, the diagnosis,clinical care and treatment, and medical follow-up. Moral challengesnamely pertained to poor communication of diagnoses, lack of shareddecision-making, and lack of holistic support. Morally problematicsituations featured moral dimensions, namely (1) internal tensions (e.g.,being misunderstood), (2) constraints to agency (e.g., powerlessness anddisempowerment), in addition to (3) empowerment and selfadvocacystrategies (e.g., being assertive and demanding), notably in episodeswhere support from clinicians lacked. This study highlights the usefulnessof distinguishing these three types of moral matters in ethical analysis. Italso shows how moral dimensions of morally problematic situations carryexistential importance for affected individuals. (shrink)

Rare neuromuscular diseases are a group of pathologies characterized by a progressive loss of muscular strength, atrophy, fatigue, and other muscle-related symptoms, which affect quality of life levels. The low prevalence, high geographical dispersion and disability of these individuals involve difficulties in accessing health and social care services. Teleassistance is presented as a useful tool to perform psychosocial interventions in these situations. The main aim of this research is to assess the effects of a teleassistance psychosocial program on the (...) QoL levels of people with RNMDs who have different levels of disability. A sample of 73 participants was divided into an experimental group, which participated in the intervention, and a control wait list group. QoL was evaluated through the SIP and the SF-36, and disability through the WHO-DAS II. The participants with a moderate to severe level of disability were those who most benefited from the intervention. The results also revealed that the psychosocial teleassistance program was suitable to improve physical and psychosocial aspects of people suffering from a rare neuromuscular disease with a moderate level of disability, but just psychosocial aspects in those with a severe level of disability. (shrink)

Neurodegenerative diseases are becoming increasingly common as life expectancy increases. Recent years have seen tremendous progress in the identification of genes that cause these diseases. While mutations have been found and cellular processes defined that are altered in the disease state, the identification of treatments and cures has proven more elusive. The process of finding drugs and therapies to treat human diseases can be slow, expensive and frustrating. Can model organisms such as Drosophila speed the process of (...) finding cures and treatments for human neurodegenerative diseases? We pose three questions, (1) can one mimic the essential features of human diseases in an organism like Drosophila, (2) can one cure a model organisms of human disease and (3) will these efforts accelerate the identification of useful therapies for testing in mice and ultimately humans? Here we focus on the use of Drosophila to identify potential treatments for neurodegenerative diseases such as Huntington's and we discuss how well these therapies translate into mammalian systems. BioEssays 26:485–496, 2004. © 2004 Wiley Periodicals, Inc. (shrink)

ArgumentThis article analyzes for the first time the earliest western maps of diseases in China spanning fifty years from the late 1870s to the end of the 1920s. The 24 featured disease maps present a visual history of the major transformations in modern medicine from medical geography to laboratory medicine wrought on Chinese soil. These medical transformations occurred within new political formations from the Qing dynasty (1644–1911) to colonialism in East Asia (Hong Kong, Taiwan, Manchuria, Korea) and hypercolonialism within (...) China (Tianjin, Shanghai, Amoy) as well as the new Republican Chinese nation state (1912–49). As a subgenre of persuasive graphics, physicians marshaled disease maps for various rhetorical functions within these different political contexts. Disease maps in China changed from being mostly analytical tools to functioning as tools of empire, national sovereignty, and public health propaganda legitimating new medical concepts, public health interventions, and political structures governing over human and non-human populations. (shrink)

Neglected and tropical diseases, pervasive in developing countries, are important contributors to global health inequalities. They remain largely untreated due to lack of effective and affordable treatments. Resource-poor countries cannot afford to develop the public health interventions needed to control neglected diseases. In addition, neglected diseases do not represent an attractive market for pharmaceutical industry. Although a number of international commitments, stated in the Millennium Development Goals, have been made to avert the risk of communicable diseases, (...) tropical diseases still remain neglected due to delays in international assistance. This delay can be explained by the form international cooperation has generally taken, which is limited to promoting countries’ national interests, rather than social justice at a global level. This restricts the international responsibility for global inequalities in health to a humanitarian assistance. We propose an alternative view, arguing that expanding the scope of international cooperation by promoting shared health and economic value at a global level will create new opportunities for innovative, effective and affordable interventions worldwide. It will also promote neglected diseases as a global research priority. We build our argument on a proposal to replace the patenting system that currently regulates pharmaceutical research with a global fund to reward this research based on actual decreases in morbidity and mortality at a global level. We argue that this approach is beneficent because it will decrease global health inequalities and promote social justice worldwide. (shrink)

Taneli Kukkonen - Jean Fernel's On the Hidden Causes of Things. Forms, Souls and Occult Diseases in Renaissance Medicine - Journal of the History of Philosophy 45:1 Journal of the History of Philosophy 45.1 158-159 Muse Search Journals This Journal Contents Reviewed by Taneli Kukkonen University of Victoria Jean Fernel's On the Hidden Causes of Things. Forms, Souls and Occult Diseases in Renaissance Medicine. Edited and translated by John M. Forrester. Annotated and introduced by John M. Forrester and (...) John Henry. Leiden: Brill, 2005. Pp. x + 779. Cloth, $237.00. Our understanding of how early modern conceptions of human nature emerged out of the intellectual tumult of the Renaissance and the Reformation has been greatly enhanced by a growing recognition of the way in which these developments built not only on contemporary scientific advances and a recovery of ancient learning, but also on the philosophical.. (shrink)

Hedgehog is an important morphogenic signal that directs pattern formation during embryogenesis, but its activity also remains present through adult life. It is now becoming increasingly clear that during the reproductive phase of life and beyond it continues to direct cell renewal (which is essential to combat the chronic environmental stress to which the body is constantly exposed) and counteracts vascular, osteolytic and sometimes oncological insults to the body. Conversely, down‐regulation of hedgehog signalling is associated with ageing‐related diseases such (...) as type 2 diabetes, neurodegeneration, atherosclerosis and osteoporosis. Hence, in this essay we argue that hedgehog signalling is not only important at the start of life, but also constitutes an important anti‐geriatric influence, and that enhanced understanding of its properties may contribute to developing rational strategies for healthy ageing and prevention of ageing‐related diseases.Also watch the Video Abstract. (shrink)