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101.
Vittorio Mantero Claudia Tarlarini Angelo Aliprandi Giuseppe Lauria Andrea Rigamonti Lucia Abate Paola Origone Paola Mandich Silvana Penco Andrea Salmaggi 《Journal of genetic counseling》2017,26(3):442-446
Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. 相似文献
102.
We look into the transformation of meanings in psychotherapy and suggest a clinical application for Wittgenstein’s intuitions
concerning the role of linguistic practices in generating significance. In post-modern theory, therapy does not necessarily
change reality as much as it does our way of experiencing it by intervening in the linguistic-representational rules responsible
for constructing the text which expresses the problem. Since “states of mind assume the truths and forms of the language devices
that we use to represent them” (Foucault, 1963, p. 57), therapy may be intended as a narrative path toward a new naming of one’s reified experiences. The clinical problem
we consider here, the pervasive feeling of inadequacy due to one’s excessive height (dysmorphophobia), is an excellent example
of “language game” by which a “perspicuous representation” (the “therapy” proposed by Wittgenstein in the 1953) may bring out alternatives to linguistically-built “traps”, putting the blocked semiotic mechanism back into motion. 相似文献
103.
Giuseppe Civitarese 《The International journal of psycho-analysis》2006,87(3):703-723
Dreams in which the analyst appears undisguised almost always depict violations of the setting. Often experienced as special, epiphanic moments, they give a glimpse of an intense, emotional reaction to traumatogenic or otherwise signifi cant events that have occurred during the session or in the most recent previous ones. Probably, the essential aspect of these dreams can be found in the ‘form of their content’. This may be paralleled by the narrative technique of mise en abyme or mirror‐text. The dream appears as a story within the main story and the scene of the analysis is refl ected anti‐illusionistically. The fi ctional structure of the setting is emphasized. Its theatrical self‐consciousness quality is revealed at its best. The author postulates that the transformative therapeutic value of these dreams derives from denouncing the referential illusion of ‘concrete reality’ and of ‘what really happened’. For the analysand, they are an effective (i.e. emotionally intense) opportunity to discover the spatial articulations and the staggering refractions of the inside/outside, the textual/extra‐textual, the psychic reality/material reality. In the continual comings and goings from one term to another, the work of symbolization is reactivated and the subject is constructed. Dreams that mirror the session, from this point of view, provide a model for conceptualizing the analytic work, and their signifi cance goes beyond the specifi c phenomena referred to. A clinical case is given, in which some of one patient's dreams are considered as they occurred over a short period. In one of them, the dream‐within‐a‐dream phenomenon is present. 相似文献
104.
The continuous growth of the pharmaceutical industry is expected to require a considerable output of new drugs, with speedy
development and approval processes. This profit-driven expansion of the drug market may broaden the already established erosion
of the role of academia in favor of commercial clinical research organizations. Less and less control on the clinical trial
design, its conduct and the resulting publication[s] is the likely consequence. Academic medicine and governments should find
means to sustain the development of independent clinical research.
An earlier version of this paper was presented at an International Conference on “Conflict of Interest and its Significance
in Science and Medicine” held in Warsaw, Poland on 5–6 April, 2002. 相似文献
105.
Rattazzi MC LaFauci G Brown WT 《Mental retardation and developmental disabilities research reviews》2004,10(1):75-81
"If politics is the art of the possible, research is the art of the soluble. Both are immensely practical-minded affairs." P. B. Medawar.Gene therapy is unarguably the definitive way to treat, and possibly cure, genetic diseases. A straightforward concept in theory, in practice it has proven difficult to realize, even when directed to easily accessed somatic cell systems. Gene therapy for diseases in which the central nervous system (CNS) is the target organ presents even greater challenges and diverse vectors and brain delivery approaches are under investigation. We argue that in the case of the fragile X syndrome the approach most likely to have a chance of being effective should consist of a small, diffusible vector derived from the adeno-associated virus, carrying an FMR1 cDNA comprising the 5' promoter region and the 3' untranslated region of the gene, delivered to the entire brain by osmotic blood-brain barrier disruption. The approach can be tested in Fmr1 knockout mice, although changes in their neurobehavioral abnormalities may be difficult to evaluate. A defect in the expression of GABA(A) receptors in these mice-if shown to be a direct consequence of the Fmr1 defect-promises to be a more readily assessable marker of restored FMRp function on gene transfer. 相似文献
106.
Observing averted eye gaze results in the automatic allocation of attention to the gazed-at location. The role of the orientation of the face that produces the gaze cue was investigated. The eyes in the face could look left or right in a head-centred frame, but the face itself could be oriented 90 degrees clockwise or anticlockwise such that the eyes were gazing up or down. Significant cueing effects to targets presented to the left or right of the screen were found in these head orientation conditions. This suggests that attention was directed to the side to which the eyes would have been looking towards, had the face been presented upright. This finding provides evidence that head orientation can affect gaze following, even when the head orientation alone is not a social cue. It also shows that the mechanism responsible for the allocation of attention following a gaze cue can be influenced by intrinsic object-based (i.e. head-centred) properties of the task-irrelevant cue. 相似文献
107.
Francesca Zoratto Giulia Cordeschi Giacomo Grignani Roberto Bonanni Enrico Alleva Giuseppe Nascetti Jennifer A. Mather Claudio Carere 《Animal cognition》2018,21(6):773-785
Studies of animal personality have shown consistent between-individual variation in behaviour in many social and non-social contexts, but hunting behaviour has been overlooked. Prey capture sequences, especially in invertebrates, are supposed to be quite invariant. In cuttlefish, the attack includes three components: attention, positioning, and seizure. The previous studies indicated some variability in these components and we quantified it under the hypothesis that it could relate to personality differences. We, therefore, analysed predation sequences of adult cuttlefish to test their association with personality traits in different contexts. Nineteen subjects were first exposed to an “alert” and a “threat” test and then given a live prey, for 10 days. Predation sequences were scored for components of the attack, locomotor and postural elements, body patterns, and number of successful tentacle ejections (i.e. seizure). PCA analysis of predatory patterns identified three dimensions accounting for 53.1%, 15.9%, and 9.6% of the variance and discriminating individuals based on “speed in catching prey”, “duration of attack behaviour”, and “attention to prey”. Predation rate, success rate, and hunting time were significantly correlated with the first, second, and third PCA factors, respectively. Significant correlations between capture patterns and responsiveness in the alert and threat tests were found, highlighting a consistency of prey capture patterns with measures of personality in other contexts. Personality may permeate even those behaviour patterns that appear relatively invariant. 相似文献
108.
Giuseppe Civitarese 《The International journal of psycho-analysis》2016,97(5):1369-1392
Although it encapsulates the Freudian theory of art, the theory of sublimation has become outmoded. What is more, since its inception there has always been something ill‐defined about it. Does it use sexualized or de‐sexualized drive energy? Is it a defence or an alternative to defence? Does it serve Eros or Thanatos? Is it useful in clinical work or is it unusable? The only, albeit uncertain, aid to a definition relies on the extrinsic criterion of concrete artistic realization. My aim here to revisit and possibly ‘reinvent’ sublimation in the light of certain principles of the pre‐Romantic aesthetics of the sublime. Both are theories of spiritual elevation, in other words, elevation that moves towards abstract thinking, and of man's ‘moral’ achievement; and both attempt to explain the mystery of aesthetic experience. On the one hand, the aesthetics of the sublime offers a modern myth that helps us articulate a series of factors occasionally referred to by various authors as constitutive of sublimation but which have not been incorporated into a single organic framework: loss and early mourning work; the earlier existence of a catastrophic factor – to be regarded, depending on the situation, as either traumatic or simply ‘negative’; the correspondence with a process of somatopsychic categorization which coincides with subjectivity. On the other hand, it also helps us grasp the experience of negative pleasure empathically, living it ‘from the inside’. 相似文献
109.
Olga Breskaya Giuseppe Giordan James T. Richardson 《Journal for the scientific study of religion》2018,57(3):419-431
This essay aims to review mainstream literature and research perspectives on the sociology of human rights with the further focus on relationship between human rights and religion. We consider the challenges of late engagement of sociology with human rights and current narratives of the relationship of human rights and religion that encompass normativity as the central category of historically oriented sociology. We discuss the contribution of two empirical research mainstreams on human rights and religion and focus on a new field of study—sociology of religious freedom. A detailed new agenda for sociological research on human rights and religion is explored in the final part of our assessment. 相似文献
110.
Andrea S. Camperio Ciani Claudio Capiluppi Antonio Veronese Giuseppe Sartori 《欧洲人格杂志》2007,21(1):3-22
Whether differences in personality among populations really exist and, if so, whether they are only due to cultural and linguistic differences or have a genetically selected adaptive value, is a controversial issue. In this research, we compared three Italian populations living on three small archipelagos in the Tyrrhenian Sea (n = 993), with their corresponding neighbouring mainlanders (n = 598), i.e. sharing the same geographical origin, culture and language. We used an adjective‐based Big Five questionnaire in order to measure personality traits in four categories of individuals for each archipelago/mainland population: (1) original islanders; (2) non‐original islanders; (3) mainlanders and (4) immigrants to the islands. We further analysed original and non‐original islanders who had or had not emigrated from the islands. We found that islanders had different personality traits from mainlanders, the former being more conscientious and emotionally stable and less extraverted and open to experience. We also found that the subgroup of islanders whose ancestors had inhabited their island for about 20 generations in isolation (original islanders, n = 624) were less extraverted and open to experience than immigrants (n = 193). In contrast, immigrants retained the typical personality profile of the mainland populations. Lastly, emigrants from the islands (n = 209) were significantly more extraverted and open to experience than original and non‐original islanders who had never left their island (n = 741). We hypothesise that population differences in extraversion and openness to experience are more probably related to genetic differences which evolved rapidly, presumably through an active gene flow produced by selective emigration from the islands. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献