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1.
This article describes research undertaken to assess the need for a community leisure service in Tower Hamlets, part of London's East End. The results replicate the findings of other researchers; that many people with mental handicaps, though “living” in the community, remain isolated from the “community” in its widest sense. People in this study spent the majority of their free time engaged in housebound, solitary, passive, and family oriented activities. Pursuits which did involve “going out” tended to be for groups, such as attending clubs or sports activities. It was found that 84 per cent of respondents, that is, potential consumers, felt they would like to take part in leisure activities that they were not pursuing at the time of the study. The development of Tower Hamlets “Leisure-Links” scheme is described, highlighting features of the scheme which distinguish it from other similar initiatives. Applications for funding are outlined.  相似文献   

2.
Three groups of male, hospitalized alcoholics—a total of 105 patients—were studied. In addition, the expectancies from hospitalization of the relatives of one of the groups was related to the participation in treatment of that group. Patients whose relatives visited them and agreed upon goals, as well as patients who had no relatives, participated better than patients whose relatives visited but disagreed on goals, or patients whose relatives could have visited but did not. Patient's and relatives' expectancies for “psychological” help were associated with better participation than in cases where expectancies were only for “physical” help. Motivation for treatment is a complex matter involving not only the patient's goals but his pattern of communication with family members, and in some circumstances, having no family provides a better prognosis than having a non-supporting or poorly communicating family.  相似文献   

3.
ObjectivesIn the wake of the Covid-19 pandemic, visits by relatives to Nursing Homes for the Elderly (EHPAD) and Long-Term Care Units (USLD) have been severely restricted or even prohibited in order to protect the residents and patients, especially the most vulnerable among them. This situation has revived the debate around the place and role of the relational entourage in caring for the elderly. The relevance of family ties in supporting the narcissistic and objectal cathexis of the elderly has thus gained recognition. There is, however, the risk of an emerging form of uniformization and idealization, which the present article seeks to address by highlighting some aspects of the intrapsychic and inter-relational dynamics that drive the inherent complexity of those bonds.MethodThe authors seek to identify the psychic processes involved in varying forms of presence and of motivation of “natural caregivers” and “professional caregivers.” Their approach is based on a psychodynamic analysis of the consequences of the Covid-19 pandemic and the changes induced in the links between the patient or elderly resident and his or her entourage. Complex movements fueling the dynamics involved in these links are revealed. A clinical vignette based on research in clinical psychology and psychopathology is provided.ResultsThe pandemic context showed the creative strategies devised by relatives and carers to maintain forms of presence and links “at a distance” with isolated and confined elderly people. However, the various configurations of these arrangements also highlighted the tensions, sometimes tinged with rivalry, in the negotiations that inform the respective places and roles of family members and professionals around the subjects concerned. The caregiver's position is not self-evident and presupposes an involvement that cannot be construed on a merely functional and behavioral level. Rather, it requires a need for psychic work drawing on the identificatory and projective movements inevitably mobilized in closeness with the subject, without alienating oneself. Ambivalence, empathy, and support can then be deployed, where excessive control, covert hostility, and over-excitement are constant threats to such a necessarily close relationship. This disposition in the caregiver also encounters a singular psychic disposition on the part of the person being helped, informed by a lively conflictuality. This sometimes takes on surprising undertones, as in the case of Georges, an 86-year-old patient, where the caregiver as a “close-human-being” was fully recognized only on the condition that the relationship of help and care supported, sustained, and nourished unconscious masochistic needs.DiscussionThese perspectives are an invitation to ponder the plurality of figures of the “close-human-being” and to find one's place in a psychic and relational economy where the self-preserving and psychosexual registers are in constant interplay. They also underline the need to focus on working, individually and collectively, on the quality of the entourage's presence. This is all mediated by a complex organizational pattern anchored in the potential for reciprocal support between the family group, the caregiving group, and the institutional setting.ConclusionThese various propositions help clarifythe components of the psychic conflictuality implied, on the one hand, in the horizontal tensions existing between the various members of the familial and professional circle and, on the other hand, in the vertical tensions inherent in intergenerational dynamics. The elderly are far from being passive objects in this and their contribution is essential. The concern to ensure the close involvement of the elderly person's relatives and foster the quality of the ensuing exchanges is laudable, indeed vital. This should not, however, lead us to downplay the crucial and singular place the elderly subjects themselves occupy in individual, family, and societal dynamics, as full citizens, members of their relatives’ entourage, and essential figures in the establishment of the great psychic organizing functions that structure the difference in generations and the psychic processes of identification.  相似文献   

4.
The article describes the use of “augmented mothering”, a transactional approach to working with people who have profound and complex learning difficulties. First year students in the School of Education at Hatfield Polytechnic, following an initial teacher education course in “The Education of Children with Special Needs”, were involved in using the approach within experimental workshops in a hospital school setting. The students' evaluation of the workshops suggests they may have a useful contribution to make in the training of staff involved in working with people with such learning difficulties.  相似文献   

5.
A survey and four-year follow-up of 381 people living in a 420-bedded mental handicap hospital was carried out in order to examine the relationship between “Wessex” dependency categories and subsequent outcome. The relationship between outcome and dependency level was examined for children and adults separately. Although the majority of people remained in hospital four years after the initial survey, significant associations could be observed between the “Wessex” classifications and outcome for adults. Possible implications of these findings are discussed.  相似文献   

6.
Objective. To evaluate changes in Minnesota Multiphasic Personality Inventory (MMPI) profiles pre‐ and post‐treatment involving intrathecal opioid therapy. Patients and Methods. This study reports on 30 patients that were evaluated pre‐ and post‐intraspinal opioid therapy. Treatment duration was slightly more than four years. Each patient experienced chronic non‐cancer pain deemed suitable for trialing and subsequent implantation of a drug administration system (DAS). On average the patients had experienced pain for 8.4 years and had a mean of 3.2 pain‐related surgeries. Results. The patients could be divided into “positive change group” and “negative change group” based upon pre‐ and post‐treatment MMPI profiles. Those patients in the negative change group had more “normal profiles” pretreatment. This group evidenced less reduction in pain and was found to be using slightly higher levels of intraspinal opioids. Conclusions. These results would suggest that the MMPI profile may not be a good “predictor” of long‐term outcome utilizing intraspinal opioid therapy. Indeed, patients with the more normal profile pretreatment did not fare as well as those with the more elevated profile. A positive change in MMPI profile from pre‐ to post‐treatment was associated with a higher level of pain reduction. Patient selection therefore should be based not on a single test such as the MMPI, but on consistency across multiple sources of information including physical examination, complaints of pain and disability, behavioral observations, and psychological testing.  相似文献   

7.
In electron micrographs of the squirrel monkey (Saimiri sciureus) brain the striatal efferents were observed at two different levels in their course: (1) in cross-sectioned radial fiber bundles just before they enter the globus pallidus; (2) in cross-sectioned “comb” bundle fibers just before they enter the substantia nigra. In the radial bundles nearly all of the fibers are myelinated; in the “comb” bundle most are unmyelinated. The polarity of all the “comb” bundle fibers is descending. None of them degenerate following a large lesion in the substantia nigra but they do degenerate following a large lesion in the striatum. Also following this latter lesion the endings with large synaptic vesicles, which make up most of the endings in the globus pallidus and the substantia nigra, degenerate. For computer measurements, electron micrographs of the radial bundle were enlarged photographically to a final magnification of 20,000; those of the “comb” bundle to × 50,000. Measurements of 1309 radial fibers revealed a mean axis-cylinder diameter of 0.68 microns, and measurements of 749 unmyelinated “comb” bundle fibers gave a mean axis-cylinder diameter of 0.21 microns. Myelinated fibers were not included in the “comb” bundle measurements because it contains myelinated fibers of pallidal origin in addition to myelinated fibers of striatal origin. The results here indicate that the striatal efferents undergo a decided decrease in axis-cylinder diameter during their transit through the globus pallidus. It is suggested that the large non-spine bearing neurons in the striatum are the source of the striatal efferents and that they send their axons into the substantia nigra and enroute spend a great quantity of their axoplasm by extending extensive collaterals in both segments of the globus pallidus. This could account for the decreased caliber of the striatal efferents in the “comb” bundle and other findings in the striatum, globus pallidus and substantia nigra.  相似文献   

8.
The terrorist attacks (fusillades and suicide attacks) in Paris on 13 November 2015 have had a major psychic impact on all individuals directly or secondarily exposed to them. Medico-psychological unit (CUMP) of the Paris Île-de-France region's immediate care services were immediately mobilized and rapidly strengthened by all regional medico-psychological units (CUMP) throughout the country. Psychological assistance has been provided in several key points of Paris and specifically in the 11th district City Hall of Paris where Lyon's Medico-psychological unit was located. These specific immediate psychological assistances, referred to as a “defusing process” by the medico-psychological unit (CUMP), are mostly devoted to provide the victims with an entry point to a psychological healthcare relationship and give them a first sense of soothing and relief even though they do not prevent further psychological care follow up for the victims. Nonetheless, the potential therapeutic effect of this “defusing process” has not yet been sufficiently established nor demonstrated by any scientific study. A phoning survey was carried out one-month post-terrorist attacks and interviewed the 129 victims who benefited from the “defusing process” conducted by Lyon's medico-psychological unit (CUMP) in order to collect data and assess its effects. These people, whether directly exposed, bereaved relatives or witnesses, whose average age is 35, are mostly living in the Île-de-France region. Most of them present a high score on the IES-R scale, whether they were directly exposed, bereaved relatives or witnesses. Almost all of them (96.5%) experienced at least one medical care contact within this one-month post-trauma period with psychotropic medication for 37% of them. Regarding the defusing conducted by Lyon's medico-psychological unit (CUMP) in the 11th district City Hall of Paris, it appears that 93% of the victims who were looked after indicated that they were satisfied and 87.4% of them stated that they were soothed afterwards.  相似文献   

9.
The present study is concerned with the outcome of long-germ lithium maintenance therapy administered to 107 manic-depressive patients after more than 12 months. Nine patients failed to respond despite having met the criteria for maintenance within the therapeutic range of lithium. This group, termed “lithium non-responders”, had all shown bipolar illness with gross morbidity with frequent cycles, > 4 per year, seven had a family history of affective illness (six bipolar). The study did not demonstrate any other clear factors common to the “non-responders” group.  相似文献   

10.
This article describes the delayed grief reaction of a woman with mental handicap to her mother's death. It illustrates how “guided mourning” can be successful in helping people with mental handicaps to resolve their grief, and it highlights their bereavement needs, especially their capacity and their right to grieve. When people who are mentally handicapped have lost someone close, society's traditional reaction has been to conceal the facts from them and to ignore the possibility that they may grieve. Some of the reasons for this are reviewed. The last two sections look at the emerging recognition of the impact loss can have on people who are handicapped, and suggest ways of helping to alleviate their distress.  相似文献   

11.
In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well‐established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the “PARK” genes; (ii) classical parkinsonism due to mutations in “other than‐PARK” genes or yet other genes where parkinsonism may be a well‐recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society  相似文献   

12.
In 1974 L. G. Stewart wrote a paper on the problems and needs of severely handicapped deaf persons and suggested programmes that were needed to meet these needs. He entitled his paper “We have met the enemy and he is us”. He concluded that we have not met the needs of severely handicapped deaf persons, largely because we have not tried hard enough. Though Stewart was writing solely about deafness, this situation can be said to be true of sensory handicap in general. Kropka and Williams (1980) wrote that research into the blind and partially sighted had brought to light hitherto unsuspected service deficiencies for this “hidden” minority, as well as for the hearing impaired minority investigated earlier (Kropka, 1979). It was concluded that fine grain analysis of specific sub-groups within mental handicap institutions would highlight the under-estimation of the number of people involved and the lack of suitable programmes for them.  相似文献   

13.
ObjectivesWho have we become, as citizens, patients, practitioners? How do the means of communication and the computerization of our society, its digitization, modify and integrate our identities? Can we assume that artificial intelligence will soon have a more accurate understanding of the human being from whom it will have emancipated itself?Materials and methodsWe move from lexicology to try to grasp, from the point of view of philosophy, a contemporary identity that is moving towards the notion of a “digital identity” whose normal or pathological psychological incidents lead to what we define as “the digital personality.” Then, laying the foundations for a contemporary psychology of identity, we consider how current “psychology” and “psychiatry” view the patient's “personality” and, in turn, how they define themselves from the point of view of “the patient,” or, inversely, from the point of view of the “online practitioner” or “connected researcher.”ResultsIn exchange for its “free” use, the Internet user's action on Web 2.0 produces content and feeds databases, whether this is declared or not. Users’ privacy is lost, as “their” data no longer belongs to them; and citizens’ identity is broken down into digital media functions: a site for meeting friends, a dating platform, a blog about hobbies or travel, etc. At the same time, digital identity is made up of an other-self, including a part of artificial intelligence that provides capacity for its own existence. Rather than two parallel, differentiable entities, real or augmented, a “realistic-virtual” hybrid identity is born. What are the normal or pathological consequences for humans? Postmodern societal trends emerging from or finding expression in the digital can lead to an exacerbation of previously existing personality traits, or even symptoms, in a given individual. At the same time, it happens that the modern means of communication become an aid to experience the world, to increase self-esteem, to dream favorably about one's fantasies, to confide more easily in “strangers,” etc. But in all cases, in the subject suffering, or not suffering, prior to his overexposure, from a neuropsychiatric disease or a psychopathological disorder, it now turns out to be scientifically documented that the increased numerical confrontation induces massive neuropsychic damage (weakening working memory, attention and concentration skills, skills in constructing sophisticated cognitive operations, etc.). On the psychopathological level, rather than the terminology of “identity disorder” or a notion of “co-identities,” the term “identity elusive" seems to us to best account for this mutation of the “me” where the border between reality and virtualities is shrinking: dissociation prevails. The postmodern human and its connected objects become one, but this “uniformity” appears to be made up of a patchwork of identifying confetti more or less joined together, without a real overall harmonization. The common personality is marked by hyperexpressiveness and hyperemotivity, to the detriment of the possibility of controlling affects and the development of introspective capacities. Against the risk of a vacuum, a contra-phobia tends to develop through the smartphone, by the object itself, by the possibility of constantly contacting relatives if necessary, and in return always remaining “available,” which fuels a form of addicting self-centeredness. The result of these developments, for society in general, is a weakening of language skills, and thus of reflection, including in the clinical and scientific space.DiscussionFor the areas of psychology and psychiatry, two developments are currently associated: a desire for “objectivity-scientificity” and a digitization of the patient–caregiver relationship. On the side of “science,” objective “factual” medicine is increasingly interested in pathology at the expense of the suffering subject, confusing sign and symptom, sliding down to a molecular level, far below the patient, towards psychiatry or postclinical psychology. Whether we want to promote it or destroy it, on the side of the clinician or the researcher, “subjectivity” has become a fashionable signifier in the field of mental health. This current return of the “subjective” thrives on a kind of fear of subjectivity present since the end of World War II, which had led American nosography towards the “objectives” of the DSM (Diagnostic and Statistical Manual of Mental Disorders, published by the American Psychiatric Association since 1952). But rather than a verifiable and/or invariable knowledge concerning a particular psychic disorder, the changes and the relativity of nosographic entities from one version of the manual to another provides us with a mirror image of the subjectivity of an era, which we propose to call “societal subjectivity.” As much as it is a product of our time, the bio-digital revolution will probably impose itself in a future edition of nosography: the diagnostic validity should be increased by the precise definition of biological and/or neuroradiological markers, if these participate in building an etiopathogenic theory of observed psychic phenomena. This orientation remains in its infancy, however: in addition to the tiny number of identified biomarkers, and above all, those that are usable in daily practice, their causal or consequential links with symptoms or with the morbid process remain most often uncertain, inasmuch as they are diverse and interrelated. The neuroscience researcher aims to measure and analyze a multitude of data, integrating, in particular, mimicry and emotions authenticated by thermal camera; movements of body segments and gaze dynamics recorded by sensors; the standardization of voices and speeches for computer software analysis of prosody, used signifiers, syntax… all of which is integrated into a digital phenotyping of suffering. Will we soon be able to speak, replacing the psychologist or the psychiatrist, of an “augmented diagnostician?”.ConclusionDoes it currently appear risky to trust an entirely virtual therapist… an experiment already launched more than 50 years ago! The human being is a “being of meaning,” yet, according to the model of trauma, the emergence of the all-digital can lead to a “collapse of meaning,” generating a tendency to personality dissociation. Granting the reestablishment of the links between emotions, affects, behaviors, and cognitions, spoken language attenuates dissociation, then makes it disappear. Guided by the practitioner, this therapeutic word is sometimes qualified as “maieutics,” from the name of the science of childbirth: it builds thought synchronously to its essence, and an awareness of it, rather than nondisclosure, would account for it secondarily. It is a causal reinterpretation of a meaning understood or rather “attributed” singularly by the subject, after the fact: the past revisited in the present moment creates a synthesis, and chance is transformed into fate. The speaking subject re-elaborates her/his story towards a semantic reconstruction, a densification of her/his networks of signification. Reclaiming one's being by the creation of a discourse, of veridical as well as fictional meanders, narration, even poetization, offers the punctual illusion of a better coherence, always relative, illusory… Therapeutic speech and discourse about such speech–these are still being made, unfinished, uncertain, and alive. These are the characteristics of what we could a “post-psychotherapy,” that is, a psychotherapy and not a re-educational technique whose objectives would be fixed and known in advance. The notions of facts and reality are secondary here, not in the sense of the objective, nor even of the subjective, but of the second degree, then of other successive or overlapping degrees that require intellectual effort. Moving towards appeasement, if we wanted to bring the reflection to its paroxysm, we could advance that it would be enough to give “any meaning,” whatever it may be. This would apply both to the patient and to the practitioner, without each party's meaning necessarily being the same: a testimony to a formally invalid intersubjective construction.  相似文献   

14.
Hyperkinetic dystonia is characterized by phasic, tremulous, and “jerky” movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus‐dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck‐predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action‐induced, carried a heterozygous stop mutation of the TITF‐1 gene (Y114X, exon 2). (3) Three mutation‐negative patients were grouped as “myoclonic dystonia” with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly‐mini myoclonus of the upper limbs and pectoral muscles (D‐PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of SGCE mutation analysis in addition to testing for DYT1 mutations. A causative gene for D‐PMM remains to be identified. © 2008 Movement Disorder Society  相似文献   

15.
The specific roles of hippocampal subfields in spatial information processing and encoding are, as yet, unclear. The parallel map theory postulates that whereas the CA1 processes discrete environmental features (positional cues used to generate a “sketch map”), the dentate gyrus (DG) processes large navigation‐relevant landmarks (directional cues used to generate a “bearing map”). Additionally, the two‐streams hypothesis suggests that hippocampal subfields engage in differentiated processing of information from the “where” and the “what” streams. We investigated these hypotheses by analyzing the effect of exploration of discrete “positional” features and large “directional” spatial landmarks on hippocampal neuronal activity in rats. As an indicator of neuronal activity we measured the mRNA induction of the immediate early genes (IEGs), Arc and Homer1a. We observed an increase of this IEG mRNA in CA1 neurons of the distal neuronal compartment and in proximal CA3, after novel spatial exploration of discrete positional cues, whereas novel exploration of directional cues led to increases in IEG mRNA in the lower blade of the DG and in proximal CA3. Strikingly, the CA1 did not respond to directional cues and the DG did not respond to positional cues. Our data provide evidence for both the parallel map theory and the two‐streams hypothesis and suggest a precise compartmentalization of the encoding and processing of “what” and “where” information occurs within the hippocampal subfields.  相似文献   

16.
Assessing patient goals is crucial in understanding patient centered outcomes and satisfaction. However, patient goals may change throughout treatment. Our objective is to identify the changes in patient-selected goals of Parkinson’s disease (PD) patients undergoing bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and examine the relationship among patient-selected goal achievement, standard DBS outcome measures, and overall patient satisfaction. Seventy-five patients undergoing bilateral STN-DBS listed three patient-selected goals before surgery. After six months, patients were asked to restate the three goals and to rate the degree of goal achievement and the overall satisfaction of surgery. The three most frequently selected goals were “dyskinesia”, “gait disorder”, and “medication off duration”. After six months, 80.0% of patients could not accurately recall their pre-DBS goals. “Dyskinesia” was the most consistently selected goal, more patients selected “tremor” and “less medication” at post-DBS compared to pre-DBS, and less patients selected “gait disorder” at post-DBS compared to pre-DBS. 74.7% of patients reported overall satisfaction by stating they were “very much” or “much better after surgery”. Patient satisfaction significantly correlated with goal achievement (r = 0.640; p < 0.001). Interestingly, change in UPDRS motor scores did not correlate with patient satisfaction (r = 0.100; p = 0.395). Although recalled goals do not accurately represent the pre-surgical goals, the achievement score for recalled goals significantly correlated with patient satisfaction. Patient goals change due to many reasons. Therefore, follow-up patient counseling to discuss goals and outcomes is important in improving patient satisfaction after STN-DBS.  相似文献   

17.
《Movement disorders》2005,20(8):1042-1047
Deep brain stimulation therapy is increasingly gaining acceptance in the management of levodopa‐induced dyskinesia and fluctuations in idiopathic Parkinson's disease. It is generally not recommended for the other forms of parkinsonism such as progressive supranuclear palsy or multiple system atrophy where the response to levodopa is usually poor and disease progression more rapid, making any benefit short‐lived. Here, we present an autopsy‐confirmed case of “minimal‐change” multiple system atrophy in whom pallidal stimulation surgery was effective in abolishing severe levodopa‐induced dyskinesia. © 2005 Movement Disorder Society  相似文献   

18.
Naturalistic family therapy is what many of the early therapists did—like sports casters—they observed and reflected back to families continuously what they were saying to one another, in words, looks, body gestures, and even in the indescribable yet in deeper truth quite describable “spirit messages” of emotions. The “cost” or danger of naturalistic family therapy is that it destabilizes people and family groups and disarms long-term defensive processes. The goal of many other types of family therapy is to make most people comfortable, relieved, smiling, grateful, and happily paying clients. If one is a therapist who wants to try to help in severe cases of psychopathology, then the naturalistic family therapy described in this article is a powerful and often very helpful way of doing family therapy that one may want to consider.  相似文献   

19.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder caused by mutations in the NOTCH3 gene, with a striking variability in phenotypic expression. To date, only two homozygous patients have been reported, with divergent phenotypic features. We describe an Italian CADASIL patient, homozygous for G528C mutation, in whom early manifestation of the disease was migraine, but whose clinical evolution was characterized by a reversible acute encephalopathy followed by full recovery (“CADASIL coma”). Clinical evaluation, MR scan, neuropsychological and neurophysiological investigation did not reveal substantial differences between our homozygous patient and her heterozygous relatives sharing the same mutation, or between our patient and a group of heterozygous individuals with the same mutation but from different families. Skin biopsy identified peculiar features in the homozygous patient, with cytoplasmic pseudoinclusions likely containing granular osmiophilic material (GOM) in the vascular smooth muscle cells, but further studies are necessary to substantiate their possible relationships with CADASIL homozygosis. “CADASIL coma” did not seem to be specific of patient’s homozygosis, since it was observed in one of her heterozygous relatives, whereas its pathogenesis seems to be related to peculiar constellations of unknown predisposing factors. The present study demonstrated that CADASIL conforms to the classical definition of dominant diseases, according to which homozygotes and heterozygotes for a defect are phenotypically indistinguishable.  相似文献   

20.
ObjectivesOur review aims to present existing data on the safety of Intravenous thrombolysis (IVT) use in acute ischemic stroke (AIS) patients with concomitant central nervous system or systemic malignancies, with attention to special circumstances pertaining to specific cancer subtypes to help in acute decision making, especially for neurologists and emergency medicine physicians.MethodsA literature search was conducted on electronic databases inclusive of Medline, EMBASE and CINAHL for articles published or available in English between January 1, 2000 to June 1, 2020 using the following search terms: “acute ischemic stroke,” “cerebrovascular disease,” “Intravenous thrombolysis,” “tissue plasminogen activator,” “cancer patients,” and “neoplasm”.ConclusionRecognition of stroke symptoms in patients with active cancer, in particularly those involving the brain, requires astute clinical judgement. Decision-making can be improved by understanding baseline functional status, cancer prognosis and expected disability from stroke, as well as utilizing diagnostic modalities such acute MRI where needed. While this article does not encourage use of IVT in patients with all malignancies, it lays the groundwork for decision making should thrombolysis be a consideration in a patient with AIS in a cancer patient.  相似文献   

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