744 resultados para Syndrome Gilles de la Tourette


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This paper will focus on how Christos Tsiolkas the author of The Slap (2008) invites us to view the complex range of private lives of his male characters living in suburban Melbourne through their daily routines, conversations and innermost thoughts. On the surface most appear to be participating in and achieving a certain level of success in their lives. However, this novel reveals when we agitate and dig below the “practices of everyday life” there is often a disquiet simmering away under the facade of family harmony, male bravado and contentment. This paper will argue that as a result of dissatisfaction with the established order of their lives, each man has managed to create another level of meaning for himself, his own form of la perruque (De Certeau 2011: 29),the concept of living proposed by Michel De Certeau. A treatment of the characters in this article draws on, and is used to illustrate the paradigm.

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Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically and RNA was extracted and its integrity was assessed using a Bio-Spec Mini, NanoDrop ND-1000 spectrophotometer and standard denaturing gel electrophoresis. Following cDNA synthesis, gene-specific optimization in a Corbett RotorGene 6000 real-time cycler was followed by qRT-PCR of vertebral tissue. Histological examination of vertebral samples confirmed that only growth plate was analyzed for gene expression. Cycling and melt curves were resolved in triplicate for all samples. SHOX abundance was demonstrated in congenital and idiopathic scoliosis vertebral body growth plates. SHOX expression was 11-fold greater in idiopathic compared to congenital (n = 3) scoliosis (p = 0.027). This study confirmed that SHOX was expressed in vertebral body growth plates, which implies that its expression may also be associated with the scoliosis (and kyphosis) of Turner syndrome. SHOX expression is reduced in Turner syndrome (short stature). In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.

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Motivation is central to children’s learning. Without persistent effort, especially in the face of failure, and an eagerness to engage in challenging tasks, individuals are unlikely to learn as effectively as they might. Because of their cognitive impairments, children with Down syndrome will almost certainly have difficulties with learning. These difficulties will be ameliorated somewhat by strong engagement with learning activities whereas problems with motivation are likely to further jeopardise their academic progress as well as potentially limiting achievements in other areas of life. In this chapter we begin with a general overview of motivation. Using the framework of mastery motivation, we review the relatively small amount of research about children with Down syndrome. We identify the individual characteristics and features of children’s environments that are likely to be related to lower or higher levels of mastery motivation. In the final section, we consider implications for educators and then draw together the findings to provide a set of recommendations for future research.

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The reversible posterior leukoencephalopathy syndrome (RPLES) is a condition characterised by reversible neurological and radiological findings that has been associated with use of immunosuppressive, chemotherapeutic and more recently novel targeted therapies. We describe the case of a 50-year-old woman with advanced non-small cell lung cancer who developed status epilepticus shortly after receiving cisplatin and gemcitabine chemotherapy. The clinical, radiological and EEG findings during and post event are presented and are in keeping with a diagnosis of RPLES. Early recognition of this rare syndrome, supportive management and withdrawal of the offending agent appear to result in a reversal of the manifestations described. © 2007 Elsevier Ireland Ltd. All rights reserved.

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Extrapulmonary small cell and small cell neuroendocrine tumors of unknown primary site are, in general, aggressive neoplasms with a short median survival. Like small cell lung cancer (SCLC), they often are responsive to chemotherapy and radiotherapy. Small cell lung cancer and well differentiated neuroendocrine carcinomas of the gastrointestinal tract and pancreas tend to express somatostatin receptors. These tumors may be localized in patients by scintigraphic imaging using radiolabeled somatostatin analogues. A patient with an anaplastic neuroendocrine small cell tumor arising on a background of multiple endocrine neoplasia type 1 syndrome is reported. The patient had a known large pancreatic gastrinoma and previously treated parathyroid adenopathy. At presentation, there was small cell cancer throughout the liver and skeleton. Imaging with a radiolabeled somatostatin analogue, 111In- pentetreotide (Mallinckrodt Medical B. V., Petten, Holland), revealed all sites of disease detected by routine biochemical and radiologic methods. After six cycles of chemotherapy with doxorubicin, cyclophosphamide, and etoposide, there was almost complete clearance of the metastatic disease. 111In-pentetreotide scintigraphy revealed uptake consistent with small areas of residual disease in the liver, the abdomen (in mesenteric lymph nodes), and posterior thorax (in a rib). The primary gastrinoma present before the onset of the anaplastic small cell cancer showed no evidence of response to the treatment. The patient remained well for 1 year and then relapsed with brain, lung, liver, and skeletal metastases. Despite an initial response to salvage radiotherapy and chemotherapy with carboplatin and dacarbazine, the patient died 6 months later.

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There is debate as to whether percutaneous coronary intervention (PCI) with drug-eluting stents or coronary artery bypass surgery (CABG) is the best procedure for subjects with type 2 diabetes and coronary artery disease requiring revascularization. There is some evidence that following these procedures there is less further revascularization with CABG than PCI in subjects with diabetes. Two recent studies; the FREEDOM (Future Revascularization Evaluation in patients with Diabetes mellitus: Optimal Management of Multivessel Disease) trial, and a trial using a real world diabetic population from a Registry, have shown that the benefits of CABG over PCI in subjects with type 2 diabetes extends to lower rates of death and myocardial infarct, in addition to lower rates of revascularization. However, the rates of stroke may be higher with CABG than PCI with drug-eluting stents in this population. Thus, if CABG is going to be preferred to PCI in subjects with type 2 diabetes and multivessel coronary disease, consideration should be given to how to reduce the rates of stroke with CABG.

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Objectives To evaluate the feasibility, acceptability and effects of a Tai Chi and Qigong exercise programme in adults with elevated blood glucose. Design, Setting, and Participants A single group pre–post feasibility trial with 11 participants (3 male and 8 female; aged 42–65 years) with elevated blood glucose. Intervention Participants attended Tai Chi and Qigong exercise training for 1 to 1.5 h, 3 times per week for 12 weeks, and were encouraged to practise the exercises at home. Main Outcome Measures Indicators of metabolic syndrome (body mass index (BMI), waist circumference, blood pressure, fasting blood glucose, triglycerides, HDL-cholesterol); glucose control (HbA1c, fasting insulin and insulin resistance (HOMA)); health-related quality of life; stress and depressive symptoms. Results There was good adherence and high acceptability. There were significant improvements in four of the seven indicators of metabolic syndrome including BMI (mean difference −1.05, p<0.001), waist circumference (−2.80 cm, p<0.05), and systolic (−11.64 mm Hg, p<0.01) and diastolic blood pressure (−9.73 mm Hg, p<0.001), as well as in HbA1c (−0.32%, p<0.01), insulin resistance (−0.53, p<0.05), stress (−2.27, p<0.05), depressive symptoms (−3.60, p<0.05), and the SF-36 mental health summary score (5.13, p<0.05) and subscales for general health (19.00, p<0.01), mental health (10.55, p<0.01) and vitality (23.18, p<0.05). Conclusions The programme was feasible and acceptable and participants showed improvements in metabolic and psychological variables. A larger controlled trial is now needed to confirm these promising preliminary results.

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Severe fever with thrombocytopenia syndrome (SFTS), an emerging vector-borne disease, is caused by a novel bunyavirus belonging to the genus Phlebovirus [1, 2]. SFTS infections can be life-threatening and are characterized by sudden onset of fever, thrombocytopenia, gastrointestinal symptoms, and leukocytopenia. The tick Haemaphysalis longicornis is generally considered to be the vector of SFTS, which is widely distributed in China [2]. Person-to-person transmission through direct contact with contaminated blood has also been reported as a possible means of SFTS transmission [3–5]. Currently, there is no specific treatment other than supportive care [6]...

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The study examines the illness behaviour of patients with Chronic Fatigue Syndrome (CFS). The Illness Behaviour Questionnaire (IBQ) the twenty-eight version of the General Health Questionnaire (GBQ-28), and the Beck Depression Inventory (BDI) were administered to forty patients with a diagnosis of CFS. The results revealed that CFS patients in comparison with general practice patients, scored significantly higher on the IBQ sub-scales of General Hypochonriasis, t(188) = 5.2, p < 0.001 and Disease Conviction, t(188) = 13.28, p < 0.001 but lower on the Psychological/Somatic sub-scale, t(188) = -5.88, p < 0.001. The CFS and psychiatric patients did not differ significantly on the general hypochondriasis sub-scale. Results of the GHQ-28 revealed 66.7% of the CFS patients scored above the cut-off for psychiatric morbidity. In comparison to a previous study of CFS patients [1], the current findings indicate a significantly higher score on general hypochondriasis. The implications of these findings are discussed.

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So what do you want to know? I was in Paris between ‘75 and ‘78. But about half way through, Sylvère published the Anti-Oedipus issue of Semiotext(e) and, actually, that was for me one of the deciding events that made me decide to come to the United States, to come study at Columbia University. There appeared to be this little group working at Columbia working around these issues. In 1970, in Paris even, Deleuze was a cult – there was an incredibly small number of people following Deleuze... A transcript of my Interview with Kwinter about the Architectural Reception of Deleuze in America, which took place at Jerry’s,' Soho, New York, 15 January 2003. The transcript appeared as an Appendix at the back of my Masters Thesis undertaken at Yale School of Architecture, printed May 2003.

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La creación del término resiliencia en salud es un paso importante hacia la construcción de comunidades más resilientes para afrontar mejor los desastres futuros. Hasta la fecha, sin embargo, parece que hay poca literatura sobre cómo el concepto de resiliencia en salud debe ser definido. Este artículo tiene como objetivo construir un enfoque de gestión de desastres de salud integral guiado por el concepto de resiliencia. Se realizaron busquedas en bases de datos electrónicas de salud para recuperar publicaciones críticas que pueden haber contribuido a los fines y objetivos de la investigación. Un total de 61 publicaciones se incluyeron en el análisis final de este documento, que se centraron en aquéllas que proporcionan una descripción completa de las teorías y definiciones de resiliencia ante los desastres y las que proponen una definición y un marco conceptual para la capacidad de resiliencia en salud. La resiliencia es una capacidad inherente de adaptación para hacer frente a la incertidumbre del futuro. Esto implica el uso de múltiples estrategias, un enfoque de riesgos máximos y tratar de lograr un resultado positivo a través de la vinculación y cooperación entre los distintos elementos de la comunidad. Resiliencia en salud puede definirse como la capacidad de las organizaciones de salud para resistir, absorber, y responder al impacto de los desastres, mientras mantiene las funciones esenciales y se recupera a su estado original o se adapta a un nuevo estado. Puede evaluarse por criterios como la robustez, la redundancia, el ingenio y la rapidez e incluye las dimensiones clave de la vulnerabilidad y la seguridad, los recursos y la preparación para casos de desastre, la continuidad de los servicios esenciales de salud, la recuperación y la adaptación. Este nuevo concepto define las capacidades en gestión de desastres de las organizaciones sanitarias, las tareas de gestión, actividades y resultados de desastres juntos en una visión de conjunto integral, y utiliza un enfoque integrado y con un objetivo alcanzable. Se necesita urgentemente investigación futura de su medición

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Background A feature of epithelial to mesenchymal transition (EMT) relevant to tumour dissemination is the reorganization of actin cytoskeleton/focal contacts, influencing cellular ECM adherence and motility. This is coupled with the transcriptional repression of E-cadherin, often mediated by Snail1, Snail2 and Zeb1/δEF1. These genes, overexpressed in breast carcinomas, are known targets of growth factor-initiated pathways, however it is less clear how alterations in ECM attachment cross-modulate to regulate these pathways. EGF induces EMT in the breast cancer cell line PMC42-LA and the kinase inhibitor staurosporine (ST) induces EMT in embryonic neural epithelial cells, with F-actin de-bundling and disruption of cell-cell adhesion, via inhibition of aPKC. Methods PMC42-LA cells were treated for 72 h with 10 ng/ml EGF, 40 nM ST, or both, and assessed for expression of E-cadherin repressor genes (Snail1, Snail2, Zeb1/δEF1) and EMT-related genes by QRT-PCR, multiplex tandem PCR (MT-PCR) and immunofluorescence +/- cycloheximide. Actin and focal contacts (paxillin) were visualized by confocal microscopy. A public database of human breast cancers was assessed for expression of Snail1 and Snail2 in relation to outcome. Results When PMC42-LA were treated with EGF, Snail2 was the principal E-cadherin repressor induced. With ST or ST+EGF this shifted to Snail1, with more extreme EMT and Zeb1/δEF1 induction seen with ST+EGF. ST reduced stress fibres and focal contact size rapidly and independently of gene transcription. Gene expression analysis by MT-PCR indicated that ST repressed many genes which were induced by EGF (EGFR, CAV1, CTGF, CYR61, CD44, S100A4) and induced genes which alter the actin cytoskeleton (NLF1, NLF2, EPHB4). Examination of the public database of breast cancers revealed tumours exhibiting higher Snail1 expression have an increased risk of disease-recurrence. This was not seen for Snail2, and Zeb1/δEF1 showed a reverse correlation with lower expression values being predictive of increased risk. Conclusion ST in combination with EGF directed a greater EMT via actin depolymerisation and focal contact size reduction, resulting in a loosening of cell-ECM attachment along with Snail1-Zeb1/δEF1 induction. This appeared fundamentally different to the EGF-induced EMT, highlighting the multiple pathways which can regulate EMT. Our findings add support for a functional role for Snail1 in invasive breast cancer.

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Background Breast carcinoma is accompanied by changes in the acellular and cellular components of the microenvironment, the latter typified by a switch from fibroblasts to myofibroblasts. Methods: We utilised conditioned media cultures, Western blot analysis and immunocytochemistry to investigate the differential effects of normal mammary fibroblasts (NMFs) and mammary cancer-associated fibroblasts (CAFs) on the phenotype and behaviour of PMC42-LA breast cancer cells. NMFs were obtained from a mammary gland at reduction mammoplasty, and CAFs from a mammary carcinoma after resection. Results We found greater expression of myofibroblastic markers in CAFs than in NMFs. Medium from both CAFs and NMFs induced novel expression of α-smooth muscle actin and cytokeratin-14 in PMC42-LA organoids. However, although conditioned media from NMFs resulted in distribution of vimentin-positive cells to the periphery of PMC42-LA organoids, this was not seen with CAF-conditioned medium. Upregulation of vimentin was accompanied by a mis-localization of E-cadherin, suggesting a loss of adhesive function. This was confirmed by visualizing the change in active β-catenin, localized to the cell junctions in control cells/ cells in NMF-conditioned medium, to inactive β-catenin, localized to nuclei and cytoplasm in cells in CAF-conditioned medium. Conclusion We found no significant difference between the influences of NMFs and CAFs on PMC42-LA cell proliferation, viability, or apoptosis; significantly, we demonstrated a role for CAFs, but not for NMFs, in increasing the migratory ability of PMC42-LA cells. By concentrating NMF-conditioned media, we demonstrated the presence of factor(s) that induce epithelial-mesenchymal transition in NMF-conditioned media that are present at higher levels in CAF-conditioned media. Our in vitro results are consistent with observations in vivo showing that alterations in stroma influence the phenotype and behaviour of surrounding cells and provide evidence for a role for CAFs in stimulating cancer progression via an epithelial-mesenchymal transition. These findings have implications for our understanding of the roles of signalling between epithelial and stromal cells in the development and progression of mammary carcinoma.