A Síndrome de Kabuki é um distúrbio bastante raro, com múltiplas anomalias congênitas. O objetivo do estudo foi descrever características comportamentais, cognitivas e sociais de uma criança com seis anos de idade com Síndrome de Kabuki, e suas implicações no processo escolar. Como resultados, verif..

Over the past decade, research has revealed biomolecular condensates' relevance in diverse cellular functions. Through a phase separation process, they concentrate macromolecules in subcompartments shaping the cellular organization and physiology. In the nucleus, biomolecular condensates assemble relevant biomolecules that orchestrate gene expression. We here hypothesize that chromatin condensates can also modulate the nongenetic functions of the genome, including the nuclear mechanical properties. The importance of chromatin condensates is supported by the genetic evidence indicating that mutations in their members are causative (...) of a group of rare Mendelian diseases named chromatinopathies (CPs). Despite a broad spectrum of clinical features and the perturbations of the epigenetic machinery characterizing the CPs, recent findings highlighted negligible changes in gene expression. These data argue in favor of possible noncanonical functions of chromatin condensates in regulating the genome's spatial organization and, consequently, the nuclear mechanics. In this review, we discuss how condensates may impact nuclear mechanical properties, thus affecting the cellular response to mechanical cues and, eventually, cell fate and identity.Chromatin condensates organize macromolecules in the nucleus orchestrating the transcription regulation and mutations in their members are responsible for rare diseases named chromatinopathies. We argue that chromatin condensates, in concert with the nuclear lamina, may also govern the nuclear mechanical properties affecting the cellular response to external cues. (shrink)

Mutations in enhancer‐associated chromatin‐modifying components and genomic alterations in non‐coding regions of the genome occur frequently in cancer, and other diseases pointing to the importance of enhancer fidelity to ensure proper tissue homeostasis. In this review, I will use specific examples to discuss how mutations in chromatin‐modifying factors might affect enhancer activity of disease‐relevant genes. I will then consider direct evidence from single nucleotide polymorphisms, small insertions, or deletions but also larger genomic rearrangements such as duplications, deletions, translocations, and inversions (...) of specific enhancers to demonstrate how they have the ability to impact enhancer activity of disease genes including oncogenes and tumor suppressor genes. Considering that the scientific community only fairly recently has begun to focus its attention on “enhancer malfunction” in disease, I propose that multiple new enhancer‐regulated and disease‐relevant processes will be uncovered in the near future that will constitute the mechanistic basis for novel therapeutic avenues. (shrink)

Mutations in enhancer‐associated chromatin‐modifying components and genomic alterations in non‐coding regions of the genome occur frequently in cancer, and other diseases pointing to the importance of enhancer fidelity to ensure proper tissue homeostasis. In this review, I will use specific examples to discuss how mutations in chromatin‐modifying factors might affect enhancer activity of disease‐relevant genes. I will then consider direct evidence from single nucleotide polymorphisms, small insertions, or deletions but also larger genomic rearrangements such as duplications, deletions, translocations, and inversions (...) of specific enhancers to demonstrate how they have the ability to impact enhancer activity of disease genes including oncogenes and tumor suppressor genes. Considering that the scientific community only fairly recently has begun to focus its attention on “enhancer malfunction” in disease, I propose that multiple new enhancer‐regulated and disease‐relevant processes will be uncovered in the near future that will constitute the mechanistic basis for novel therapeutic avenues. (shrink)

Many intelligent, capable, and successful individuals believe that their success is due to luck and fear that they will someday be exposed as imposters. A puzzling feature of this phenomenon, commonly referred to as imposter syndrome, is that these same individuals treat evidence in ways that maintain their false beliefs and debilitating fears: they ignore and misattribute evidence of their own abilities, while readily accepting evidence in favour of their inadequacy. I propose a novel account of imposter syndrome (...) as an instance of self-deception, whereby biased evidence treatment is driven by the motivational benefit of negative self-appraisal. This account illuminates a number of interconnected philosophical and scientific puzzles related to the explanation, definition, and value of imposter syndrome. (shrink)

Savant syndrome and prime numbers Oliver Sacks reported that a pair of autistic twins had extraordinary number abilities and that they spontaneously generated huge prime numbers. Such abilities could contradict our understanding of human abilities. Sacks' report attracted widespread attention, and several researchers speculated theoretically. Unfortunately, most of the explanations in the literature are wrong. Here a correct explanation on prime number identification is provided. Fermat's little theorem is implemented in spreadsheet. Also, twenty years after the report, questionable aspects (...) were found in it. Extreme abilities became dubious. One possibility for the less extreme abilities is incomplete trial division. (shrink)

Various psychopathologies of self-awareness, such as somatoparaphrenia and thought insertion in schizophrenia, might seem to threaten the viability of the higher-order thought (HOT) theory of consciousness since it requires a HOT about one’s own mental state to accompany every conscious state. The HOT theory of consciousness says that what makes a mental state a conscious mental state is that there is a HOT to the effect that “I am in mental state M.” I have argued in previous work that a (...) HOT theorist can adequately respond to this concern with respect to somatoparaphrenia and thought insertion. There is also Cotard syndrome which is a rare neuropsychiatric disorder in which people hold the delusional belief that they are dead, do not exist, or have lost their blood or internal organs. In this paper, I argue that HOT theory has nothing to fear from it either and can consistently account for what happens in such unusual cases. I analyze Cotard syndrome in light of my previous discussion of somatoparaphrenia and thought insertion, and argue that HOT theory can provide a somewhat analogous account without the worry of inconsistency. It is crucial to recognize that there are multiple “self-concepts” and levels of HOTs which can help to provide a more nuanced explanation. With regard to the connection between consciousness and self-consciousness, it is proposed that Cotard patients are indeed capable of having some “I-thoughts” about their bodies and mental states. (shrink)

The suggested model is discussed with reference to two clinical populations with memory disorders – patients with misidentification syndromes and those with source memory impairment, both of whom may present with (broadly conceived) déjà vu phenomenon, without insight into false feeling of familiarity. The role of the anterior thalamic nucleus and retrosplenial cortex for autobiographical memory and familiarity is highlighted.

While some of mental disorders due to emotional distress occur cross-culturally, others seem to be much more bound to particular cultures. In this paper, I propose that many of these “cultural syndromes” are culturally sanctioned responses to overwhelming negative emotions. I show how tools from cultural evolution theory can be employed for understanding how the syndromes are relatively confined to and retained within particular cultures. Finally, I argue that such an account allows for some cultural syndromes to be or become (...) mental disorders and also steers clear of some of the anti-realist trappings associated with a social constructivism of cultural syndromes. (shrink)

Background: Researchers and clinicians have often cited a strong relationship between individuals with Williams syndrome and music. This review systematically identified, analyzed, and synthesized research findings related to Williams syndrome and music. Methods: Thirty-one articles were identified that examined this relationship and were divided into seven areas. This process covered a diverse array of methodologies, with aims to: 1) report current findings; 2) assess methodological quality; and 3) discuss the potential implications and considerations for the clinical use of (...) music with this population. Results: Results indicate that individuals with WS demonstrate a high degree of variability in skill and engagement in music, presenting with musical skills that are more in line with their cognitive abilities than chronological age. Musical strengths for this population appear to be based more in musicality and expressivity than formal musical skills, which are expressed through a heightened interest in music, a greater propensity toward musical activities, and a heightened emotional responsiveness to music. Individuals with WS seem to conserve the overall structure of musical phrases better than they can discriminate or reproduce them exactly. The affinity for music often found in this population may be rooted in atypical auditory processing, autonomic irregularities, and differential neurobiology. Conclusions: More studies are needed to explore how this affinity for music can be harnessed in clinical and educational interventions. (shrink)

A point made repeatedly over the last few years is that the Locked-in Syndrome offers unique real-life material for revisiting and challenging certain ingrained philosophical assumptions about the nature of personhood and personal identity. Indeed, the claim has been made that a closer study of LIS will call into question some of the traditional conceptions of personhood that primarily highlight the significance of consciousness, self-consciousness and autonomy and suggest the need for a more interpersonal account of the person. I (...) am skeptical about these claims and will in the following argue that the theoretical relevance of LIS for an understanding of selfhood and personhood has been exaggerated. (shrink)

The functions of the Bloom syndrome helicase and its orthologs are well characterized in mitotic DNA damage repair, but their roles within the context of meiotic recombination are less clear. In meiotic recombination, multiple repair pathways are used to repair meiotic DSBs, and current studies suggest that BLM may regulate the use of these pathways. Based on literature from Saccharomyces cerevisiae, Arabidopsis thaliana, Mus musculus, Drosophila melanogaster, and Caenorhabditis elegans, we present a unified model for a critical meiotic role (...) of BLM and its orthologs. In this model, BLM and its orthologs utilize helicase activity to regulate the use of various pathways in meiotic recombination by continuously disassembling recombination intermediates. This unwinding activity provides the meiotic program with a steady pool of early recombination substrates, increasing the probability for a DSB to be processed by the appropriate pathway. As a result of BLM activity, crossovers are properly placed throughout the genome, promoting proper chromosomal disjunction at the end of meiosis. This unified model can be used to further refine the complex role of BLM and its orthologs in meiotic recombination. In meiotic recombination, Blm utilizes its helicase activity to disassemble early recombination intermediates, thereby retaining a pool of recombination sites from which some can be selected to enter the Class I crossover pathway while simultaneously promoting SDSA and preventing the use of the Class II pathway. (shrink)

Williams syndrome is a genetic disorder that, because of its unique cognitive profile, has been marshalled as evidence for the modularity of both language and social skills. But emerging evidence suggests the claims of modularity based on WS have been premature. This paper offers an examination of the recent literature on WS. It argues the literature gives little support for mental modularity. Rather than being rigidly modular, the WS brain is an extremely flexible organ that that co-opts available neural (...) resource in a highly dynamic manner to cope in the world. (shrink)

The research sought to determine the prevalence of Burnout Syndrome in health teachers at a university in north-eastern Peru. The universe was made up of 69 teachers, and 41 responded to the self-administered instrument called Maslach Burnout Inventory. The results show that 14.6% present this syndrome. The highest indicator was personal fulfillment, while depersonalization and emotional exhaustion were low. According to gender, in both it was similar. According to age group, it had a greater effect in ages between (...) 36 and 51 years. Marital status was more prevalent in singles. We conclude that the prevalence of Burnout Syndrome was low. (shrink)

ABSTRACT Many intelligent, capable, and successful individuals believe that their success is due to luck, and fear that they will someday be exposed as imposters. A puzzling feature of this phenomenon, commonly referred to as imposter syndrome, is that these same individuals treat evidence in ways that maintain their false beliefs and debilitating fears: they ignore and misattribute evidence of their own abilities, while readily accepting evidence in favour of their inadequacy. I propose a novel account of imposter (...) class='Hi'>syndrome as an instance of self-deception, whereby biased evidence treatment is driven by the motivational benefit of negative self-appraisal. This account illuminates a number of interconnected philosophical and scientific puzzles related to the explanation, definition, and value of imposter syndrome. (shrink)

It has been argued that Extended Cognition (EXT), a recently much discussed framework in the philosophy of cognition, would serve as the theoretical basis to account for the impact of Brain Computer Interfaces (BCI) on the self and life of patients with Locked-in Syndrome (LIS). In this paper I will argue that this claim is unsubstantiated, EXT is not the appropriate theoretical background for understanding the role of BCI in LIS. I will critically assess what a theory of the (...) extended self would comprise and provide a list of desiderata for a theory of self that EXT fails to accommodate for. There is, however, an alternative framework in Cognitive Science, Enactivism, which entails the basis for an account of self that is able to accommodate for these desiderata. I will outline some first steps towards an Enactive approach to the self, suggesting that the self could be considered as a form of human autonomy. Understanding the self from an enactive point of view will allow to shed new light on the questions of whether and how BCIs affect or change the selves of patients with LIS. (shrink)

The patient with Capgras’ syndrome claims that people very familiar to him have been replaced by impostors. I argue that this disorder is due to the destruction of a representation that the patient has of the mind of the familiar person. This creates the appearance of a familiar body and face, but without the familiar personality, beliefs, and thoughts. The posterior site of damage in Capgras’ is often reported to be the temporoparietal junction, an area that has a role (...) in the mindreading system, a connected system of cortical areas that allow us to attribute mental states to others. Just as the Capgras’ patient claims that that man is not his father, the patient with asomatognosia claims that his arm is not really his. A similar account applies here, in that a nearby brain area, the supramarginal gyrus, is damaged. This area works in concert with the temporoparietal junction and other areas to produce a large representation of a mind inside a body situated in an environment. Damage to the mind-representing part of this system (coupled with damage to executive processes in the prefrontal lobes) causes Capgras’ syndrome, whereas damage to the body-representing part of this system (also coupled with executive damage) causes asomatognosia. (shrink)

Syndromic surveillance uses new ways of gathering data to identify possible disease outbreaks. Because syndromic surveillance can be implemented to detect patterns before diseases are even identified, it poses novel problems for informed consent, patient privacy and confidentiality, and risks of stigmatization. This paper analyzes these ethical issues from the viewpoint of the patient as victim and vector. It concludes by pointing out that the new International Health Regulations fail to take full account of the ethical challenges raised by syndromic (...) surveillance. (shrink)

Ordinary cases of object seeing involve the visual perception of space and spatial location. But does seeing an object require such spatial perception? An empirical challenge to the idea that it does comes from reflection upon Bálint's syndrome, for some suppose that in Bálint's syndrome subjects can see objects without seeing space or spatial location. In this article, I question whether the empirical evidence available to us adequately supports this understanding of Bálint's syndrome, and explain how the (...) aforementioned empirical challenge can be resisted. (shrink)

Language evolution resulted from changes in our biology, behavior, and culture. One source of these changes might be human self-domestication. Williams syndrome (WS) is a clinical condition with a clearly defined genetic basis and resulting in a distinctive behavioral and cognitive profile, including enhanced sociability. In this paper we show evidence that the WS phenotype can be satisfactorily construed as a hyper-domesticated human phenotype, plausibly resulting from the effect of the WS hemydeletion on selected candidates for domestication and neural (...) crest function. Specifically, we show that genes involved in animal domestication and neural crest development and function are significantly dysregulated in the blood of subjects with WS. We also discuss the consequences of this link between domestication and WS for our current understanding of language evolution. (shrink)

What is love? In this paper I argue that love is a psychological syndrome, or an enormously complex cluster of psychological attitudes and dispositions that’s accompanied by a corresponding set of symptoms that flow from it. More specifically, I argue that love is an affectionate loyalty that takes different shapes across cases and that manifests itself in some set of behavioral and emotional expressions, where this set of expressions also varies across cases. After laying down three theoretical constraints that (...) viable theories of love must satisfy, I sketch my syndrome theory of love in detail and then defend it. First, I argue that it has a strong yet defeasible claim to satisfying the three theoretical constraints. Then I defend my theory against two objections that target its extensional adequacy. I conclude that we have good grounds for being optimistic about the theory even though it calls for further development and scrutiny. (shrink)

Le syndrome de Kierkegaard est un essai libre de Jean- Luc Berlet, consacré à l'un de ses penseurs de prédilection, le Danois Seren Kierkegaard (1813-1855). Ce syndrome dont il est question, tel que défini par l'auteur, pourrait être conçu comme la tension qui résulte de l'impossible choix entre l'amour de la femme et l'amour de Dieu. Kierkegaard renonça en effet à l'amour charnel de la femme au profit d'une vie ascétique consacrée à I écriture et à la réflexion (...) sur l'Amour. A plus grande échelle ce syndrome pourrait être compris comme l'abandon du temporel au profit d'un idéal spirituel Et les regrets qui en découlent. En effet, comme nombre de contemporains opérant ce type de choix, Kierkegaard connut bien des tourments. Ces affres permirent néanmoins à Kierkegaard de développer une conception de l'Amour et du Divin d'une grande originalité qu'il est bon de redécouvrir dans notre époque marquée par le consumérisme sentimental. Tout au long des quatorze chapitres qui jalonnent cet ouvrage, Jean-Luc Berlet retrace le parcours littéraire de ce philosophe danois considéré par beaucoup comme le père de l'existentialisme, brossant ici un tableau complet de son énigmatique personnalité. En outre, chaque chapitre est accompagné d'un code QR, donnant chacun actes à une vidéo en ligne où Jean - Luc Berlet approfondit son développement et fournit des clefs de lecture pour une meilleure compréhension de l'oeuvre de Kierkegaard. (shrink)

Syndrom uprzedmiotowienia narodowego Polaków jest systemem hamowania aktywności zbiorowej i jednostkowej. Wytwarzany jest poprzez redukcje instytucjonalnych podstaw samostanowienia obywateli, a pogłębiany z powodu niemożności akumulacji osobistej własności i gospodarowania dobrem wspólnym przez pojedyncze podmioty. Polega tez na blokowaniu personalnej dyspozycji do rozpoznania narzucanych zależności. W okresie transformacji politycznej w Polsce po 1989 roku takie strategie zostały skutecznie zastosowane.

Individuals with Down syndrome (DS) are widely believed to possess considerable socialization strengths. However, the findings on social cognition capabilities are controversial. In the present study, we investigated whether individuals with DS exhibit shortage in face tuning, one of the indispensable components of social cognition. For this purpose, we implemented a recently developed Face-n-Food paradigm with food-plate images composed of food ingredients such as fruits and vegetables. The key benefit of such ‘face like non-face’ images is that single elements (...) do not facilitate face processing. In a spontaneous recognition task, 25 children with DS aged 9 to 18 years were presented with a set of Face-n-Food images bordering on the Giuseppe Arcimboldo style. The set of images was administered in a predetermined order from the least to most resembling a face. In DS individuals, thresholds for recognition of the Face-n-Food images as a face were drastically higher as compared not only with typically developing controls, but also with individuals with autistic spectrum disorders and Williams-Beuren syndrome. This outcome represents a significant step towards better conceptualization of visual social world in DS and neurodevelopmental disorders in general. (shrink)

The study examines the argumentative competencies of people with Asperger syndrome (AS) and compares this with those of normal – or what are called neurotypical (NT) – subjects. To investigate how people with AS recognise, evaluate and engage in argumentation, we have adapted and applied the empirical instrument developed by van Eemeren, Garssen and Meuffels to study the conventional validity of the pragma-dialectical freedom rule (van Eemeren, Gars- sen & Meuffels 2003a; 2003b; 2005a; 2005b; van Eemeren & Meuffels, 2002). (...) Our paper begins with some background information on Asperger syndrome and how it impacts upon communication and argumentation; then it addresses the research questions and methods used; thirdly, it presents some initial findings; finally, it will conclude with some im- plications for those people with AS, for those they come into contact with and for the pragma-dialectic model in general. (shrink)

Cockayne syndrome is a rare autosomal recessive disease characterized by a complex clinical phenotype. Most Cockayne syndrome cells are hypersensitive to killing by ultraviolet radiation. This observation has prompted a wealth of studies on the DNA repair capacity of Cockayne syndrome cells in vitro. Many studies support the notion that such cells are defective in a DNA repair mode(s) that is transcription‐dependent. However, it remains to be established that this is a primary molecular defect in Cockayne (...) class='Hi'>syndrome cells and that it explains the complex clinical phenotype associated with the disease. An alternative hypothesis is that Cockayne syndrome cells have a defect in transcription affecting the expression of certain genes, which is compatible with embryogenesis but not with normal post‐natal development. Defective transcription may impair the normal processing of DNA damage during transcription‐dependent repair.‘“Curiouser and curiouser” cried Alice.’ (Lewis Carroll, Alice's Adventures in Wonderland). (shrink)

Werner syndrome is a rare autosomal recessive disorder that mimics some of the characteristics of aging. The gene for this disorder has recently been identified as a helicase of the recQ subclass(1). Other phenotypically distinctive disorders caused by different helicase mutations include Bloom syndrome, Cockayne syndrome, xeroderma pigmentosum and trichothiodystrophy. Possible mechanisms by which helicases might produce the variable phenotypes are discussed. These include altered nucleotide excision repair and RNA polymerase II‐mediated transcription. The discovery of the helicase (...) defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process. (shrink)

Werner syndrome is a rare autosomal recessive disorder that mimics some of the characteristics of aging. The gene for this disorder has recently been identified as a helicase of the recQ subclass(1). Other phenotypically distinctive disorders caused by different helicase mutations include Bloom syndrome, Cockayne syndrome, xeroderma pigmentosum and trichothiodystrophy. Possible mechanisms by which helicases might produce the variable phenotypes are discussed. These include altered nucleotide excision repair and RNA polymerase II‐mediated transcription. The discovery of the helicase (...) defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process. (shrink)

Two main approaches can be discerned in the literature on agentive self-awareness: a top-down approach, according to which agentive self-awareness is fundamentally holistic in nature and involves the operations of a central-systems narrator, and a bottom-up approach that sees agentive self-awareness as produced by lowlevel processes grounded in the very machinery responsible for motor production and control. Neither approach is entirely satisfactory if taken in isolation; however, the question of whether their combination would yield a full account of agentive self-awareness (...) remains very much open. In this paper, I contrast two disorders affecting the control of voluntary action: the anarchic hand syndrome and utilization behavior. Although in both conditions patients fail to inhibit actions that are elicited by objects in the environment but inappropriate with respect to the wider context, these actions are experienced in radically different ways by the two groups of patients. I discuss how top-down and bottom-up processes involved in the generation of agentive self-awareness would have to be related in order to account for these differences. (shrink)

Embodied approaches in cognitive science hold that the body is crucial for cognition. What this claim amounts to, however, still remains unclear. This paper contributes to its clarification by confronting three ways of understanding embodiment—the sensorimotor approach, extended cognition and enactivism—with Locked-in syndrome. LIS is a case of severe global paralysis in which patients are unable to move and yet largely remain cognitively intact. We propose that LIS poses a challenge to embodied approaches to cognition requiring them to make (...) explicit the notion of embodiment they defend and its role for cognition. We argue that the sensorimotor and the extended functionalist approaches either fall short of accounting for cognition in LIS from an embodied perspective or do it too broadly by relegating the body only to a historical role. Enactivism conceives of the body as autonomous system and of cognition as sense-making. From this perspective embodiment is not equated with bodily movement but with forms of agency that do not disappear with body paralysis. Enactivism offers a clarifying perspective on embodiment and thus currently appears to be the framework in embodied cognition best suited to address the challenge posed by LIS. (shrink)

In a recent contribution to this journal, Andrew Fenton and Sheri Alpert have argued that the so-called “extended mind hypothesis” allows us to understand why Brain Computer Interfaces (BCIs) have the potential to change the self of patients suffering from Locked-in syndrome (LIS) by extending their minds beyond their bodies. I deny that this can shed any light on the theoretical, or philosophical, underpinnings of BCIs as a tool for enabling communication with, or bodily action by, patients with LIS: (...) BCIs are not a case of cognitive extension. I argue that Fenton and Alpert’s claim to the contrary is the result of a widespread confusion about some related, but significantly different, approaches to cognition that all fall under the heading of “situated cognition.” I first provide a short taxonomy of various situated approaches to cognition, highlighting (some of) their important commonalities and differences, which should dissolve some of the confusions surrounding them. Then I show why the extended mind hypothesis is unsuitable as a model of BCI enhancements of LIS patients’ capacity to interact with their surroundings, and I argue that the situated approach with obvious bearings on the sort of questions that were driving Fenton and Alpert is not the idea that cognition is extended , but the idea that cognition is enacted. (shrink)

The correct execution of the DNA replication process is crucially import for the maintenance of genome integrity of the cell. Several types of sources, both endogenous and exogenous, can give rise to DNA damage leading to the DNA replication fork arrest. The processes by which replication blockage is sensed by checkpoint sensors and how the pathway leading to resolution of stalled forks is activated are still not completely understood. However, recent emerging evidence suggests that one candidate for a sensor of (...) replication stress is ATR and that, together with a member of RecQ family helicases, Werner syndrome protein (WRN) and MRE11 complex, can collaborate to promote the restarting of DNA synthesis through the resolution of stalled replication forks. Here, we discuss how WRN, the MRE11 complex and the ATR kinase could work together in response to replication blockage to avoid DNA replication fork collapse and genome instability. BioEssays 26:306–313, 2004. © 2004 Wiley Periodicals, Inc. (shrink)

This paper reflects on masculinist biases affecting scientific research on the Premenstrual Syndrome. Masculinist bias is examined on the level of observation language and in the choice of explanatory frameworks. Such bias is found to be further reinforced by the social construction of “the clinical body” as an object of medical interrogation. Some of the political implications of the medicalization of women's premenstrual changes are also discussed.

Tick bite induced α‐gal syndrome (AGS) following consumption of mammalian meat is a recently described intriguing disease occurring worldwide. Here we argue that AGS and delayed allergy in general is an adaptive defence method against cancer. Our hypothesis synthesizes two lines of supporting evidence. First, allergy has been shown to have direct anti‐cancer effects with unknown mechanism. Second, eating processed meat was shown to be linked to developing cancer. Humans lost their genes encoding molecules α‐gal 30 MYA and Neu5Gc (...) 2 MYA, the latter co‐occurring with the start of using fire. These molecules are acquired from external sources, as tick bite for α‐gal and mammalian meat for Neu5Gc, the latter accumulating in tumors. The resulting specific delayed allergic response is a molecular adaptation to fight cancer. By further testing and applying our hypothesis, new avenues in cancer research and therapy will open that might save lives and decrease human suffering. (shrink)

Asperger syndrome (AS) is an autistic spectrum condition that shares the range of social impairments associated with classic autism widely regarded as disabling, while also often giving rise to high levels of ability in areas such as maths, science, engineering and music. The nature of this striking duality of disability and ability is examined, along with its implications for our thinking about disability and the relevance of levels and kinds of disability to reproductive choices. In particular, it may be (...) seen as posing a challenge to John Harris's influential position in reproductive ethics relating to disability. The paper argues that if, as Harris maintains, there is a quite general moral obligation to avoid bringing disabled lives into the world regardless of the level of disability, then AS must be seen as having a strong claim to be exempt from such an obligation. However, a broader critique of Harris's position leads to the conclusion that, in fact, this putative obligation does not exist. (shrink)

In this important addition to the stroke literature, highly experienced clinicians set out the patterns to be expected in patients with stroke, drawing on illustrative case histories where appropriate. The book is intended as a guide to patterns and syndromes for clinicians encountering an unfamiliar presentation in a stroke patient. It will enable them to differentiate between possible locations on the basis of symptoms and signs, recognise lesion patterns found in patients with infarcts and haemorrhages in various vascular territories, and (...) refer to the clinical features associated with rare but important causes of stroke. Drawing on the experience and clinical authority of distinguished international contributors, this is a practical, highly illustrated companion and reference for students, trainees and physicians who wish to improve their skills in the accurate diagnosis of stroke syndromes, and their understanding of its clinical consequences. (shrink)

Cette recherche s’intéresse aux problématiques de ruptures de liens dans la clinique du placement familial, notamment celles rattachées au conflit de loyauté pouvant être ressenti par des adolescents placés. Ce syndrome, qui peut être baptisé « syndrome de la couverture tirée », correspond à un phénomène de rivalité entre deux familles, une professionnelle et une biologique avec comme enjeu central l’adolescent. À partir d’une étude de cas paradigmatique menée dans le cadre de suivis thérapeutiques associés à une recherche (...) exploratoire, les auteures, thérapeutes et chercheuses en psychologie clinique, procèdent à une analyse des phénomènes psychiques sous-jacents individuels et familiaux en s’appuyant sur les théories psychanalytiques groupales et familiales. Les résultats montrent que les ruptures de liens sont étroitement associées aux processus complexes d’affiliation et à l’empêchement du processus de séparation-individuation. Mais elles sont également liées à l’échec de la fonction tiers du service de placement. (shrink)

As a human being possesses dual creation, certain reasons and conditions can oppose his inner and outside worlds. Giving preference one side to other, and to turn another into slavery enhance the syndrome of imbalance which inherent him in birth. To make harmony between them and their complementarities perfect the human being. This also emphasizes the necessity of parallel development of rational and irrational thinking and their complementarities. A human being is perfect in birth and he is the only (...) being who is able to understand his perfection. As it is reflected in Holy Books that the material world is a form of test, and the good and the evil return us. As it is seems that this material world is only the mean of choice in spiritual way. This choice is of the man. The man canchoose light or fire. Everybody understands his inferiority in his own and to solve it differently: it might be material things, divine love or science. What is the truth? It is the soul that defines it, if we can listen to it. (shrink)

Despite a recent surge in publications on Tourette Syndrome, we still lack substantial insight into first-personal aspects of “what it is like” to live with this condition. This is despite the fact that developments in phenomenological psychiatry have demonstrated the scientific and clinical importance of understanding subjective experience in a range of other neuropsychiatric conditions. We argue that it is time for Tourette Syndrome research to tap into the sophisticated frameworks developed in the philosophical tradition of phenomenology for (...) describing experience in a way that integrates discrete symptoms into an overarching experiential framework concerning the self, the body, and its modes of experience. Following a historical introduction that contextualises the pertinence of phenomenology to psychopathology, we distinguish this approach from the existing, psychologically oriented studies on TS that are also qualitative. We then outline gaps and opportunities for future research, including the sorts of questions that might be utilised in phenomenological interviews and why they are of potential benefit to research programs in philosophy, psychology, and neuroscience. In conclusion we address some of the broader implications for phenomenology of the body and philosophy of action. (shrink)

In her thought-provoking symposium contribution, ‘What Is Impostor Syndrome?’, Katherine Hawley fleshes out our everyday understanding of that concept. This response builds on Hawley’s account to ask the ameliorative question of whether the everyday concept best serves the normative goals of promoting social justice and enhancing well-being. I raise some sceptical worries about the usefulness of the notion, in so far as it is centred on doxastic attitudes that include doubt about one’s own talent or skill. I propose instead (...) that a narrower conception emphasizing the debilitating emotional and behavioural consequences of such beliefs might be preferable, and that the causes of such consequences would be better thought of as unjustified rather than false beliefs about one’s own competence. (shrink)

Patients suffering from the Cotard syndrome can deny being alive, having guts, thinking or even existing. They can also complain that the world or time have ceased to exist. In this article, I argue that even though the leading neurocognitive accounts have difficulties meeting that task, we should, and we can, make sense of these bizarre delusions. To that effect, I draw on the close connection between the Cotard syndrome and a more common condition known as depersonalisation. Even (...) though they are not delusional, depersonalised patients seem to have experiences that are quite similar to those of Cotard patients. I argue that these experiences are essentially characterised by a lack of subjective character and of two other structural features of experience, which I call ‘the present character’ and ‘the actual character’. Cotard's nihilistic delusions simply consist in taking these anomalous experiences at face value. (shrink)

The belief that memory is essential to the self is common. Extreme amnesia, e.g., Korsakoff Syndrome, is held to dissolve the afflicted person’s self. This belief is a misconception that rests on a confusion of epistemic with ontological relevance. Epistemically, memory is relevant to the self: a subject’s self-knowledge partly depends on memories of past experiences. However, it is not by virtue of these memories that the subject is a self: ontologically, memory is irrelevant to that status. The fact (...) that an individuals conception of herself as existing through time is wanting does not prevent that individual from being a self at a given point in time. As the past is there whether or not it is remembered, so the self is there whether or not it remembers. If instead we define the self as awareness of being a subject of experience, the self may survive even the most extreme forms of amnesia. Being a self is an important social value, a prerequisite of numerous legal or moral rights. This in itself is questionable, like the social exclusion it may entail. Denying an amnesic person a self is therefore more than a logical mistake: it is a social exclusion that can also be questioned on ethical grounds. (shrink)

The belief that memory is essential to the self is common. Extreme amnesia, e.g., Korsakoff Syndrome, is held to dissolve the afflicted person’s self. This belief is a misconception that rests on a confusion of epistemic with ontological relevance. Epistemically, memory is relevant to the self: a subject’s self-knowledge partly depends on memories of past experiences. However, it is not by virtue of these memories that the subject is a self: ontologically, memory is irrelevant to that status. The fact (...) that an individuals conception of herself as existing through time is wanting does not prevent that individual from being a self at a given point in time. As the past is there whether or not it is remembered, so the self is there whether or not it remembers. If instead we define the self as awareness of being a subject of experience, the self may survive even the most extreme forms of amnesia. Being a self is an important social value, a prerequisite of numerous legal or moral rights. This in itself is questionable, like the social exclusion it may entail. Denying an amnesic person a self is therefore more than a logical mistake: it is a social exclusion that can also be questioned on ethical grounds. (shrink)