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Identificação e estudo funcional de genes associados com doenças neurológicas; Identification an functional estudy of genes associated with neurological diseases

Alencastro, Gustavo de
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 17/10/2008 PT
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Neste trabalho utilizamos diferentes abordagens para o estudo de genes associados com desenvolvimento e funcionamento do SNC assim como com doenças neurológicas: 1) uma das abordagens consistiu na identificação do alelo associado a uma forma de retardo mental sindrômico com herança recessiva ligada ao cromossomo X, síndrome de Snyder-Robinson, em uma família Brasileira. Utilizando as estratégias de estudo de ligação genética e análise de genes candidatos, identificamos a segunda mutação patogênica no gene SMS (que codifica a enzima espermina sintase) associada à síndrome de Snyder-Robinson. A identificação dessa mutação contribuiu para: delinear e expandir o espectro clínico da síndrome, evidenciar domínios importantes para o funcionamento da proteína espermina sintase, comprovar a importância dessa proteína nos processos cognitivos, e também possibilitar um aconselhamento genético preciso para membros da família; 2) outra abordagem consistiu em analisar (triar mutação) o gene codificador da proteína colibistina (ARHGEF9), a qual está envolvida em sinaptogênese inibitória, em pacientes Brasileiros portadores de hiperecplexia (6 pacientes) e em pacientes portadores de retardo mental associado com epilepsia (22 pacientes). Não identificamos nenhuma alteração patogênica no gene ARHGEF nos 28 pacientes estudados; contudo...

HIV-1 RNA levels in cerebrospinal fluid and plasma and their correlation with opportunistic neurological diseases in a Brazilian AIDS reference hospital

Christo,Paulo P.; Greco,Dirceu B.; Aleixo,Agdemir W.; Livramento,Jose A.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2005 EN
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BACKGROUND: Plasma HIV RNA levels reflect systemic viral replication but in CNS it may occur relatively independent of systemic infection, yet clinical application of CSF HIV-1 RNA levels is less clear. OBJECTIVE: to compare CSF and plasma HIV-1 RNA levels of patients with different opportunistic neurological diseases to those without neurological disease, as well as to correlate these levels with the outcome of the disease and use of HAART. METHOD: 97 patients who had lumbar puncture for routine work up of suspected neurological diseases, were divided in 2 groups: without neurological disease (23) and with neurological disease (74). NASBA was used for plasma and CSF HIV RNA. RESULTS: Median CSF viral load was higher in toxoplasmic encephalitis, cryptococcal meningitis, HIV dementia and neurological diseases without a defined etiology when compared to patients without neurological disease. There was no difference between plasma viral load in patients with and without neurological diseases. Median viral load was higher in plasma and CSF among patients who died when compared to those successfully treated. CSF and plasma viral load were lower in patients with opportunistic diseases on HAART than without HAART. CONCLUSION: CSF viral load was higher in patients with any neurological disease...

Cerebrospinal fluid activity of tissue plasminogen activator in patients with neurological diseases.

Akenami, F O; Sirén, V; Koskiniemi, M; Siimes, M A; Teräväinen, H; Vaheri, A
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /07/1996 EN
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AIM: To study cerebrospinal fluid (CSF) activity of tissue plasminogen activator (tPA) in patients with neurological diseases. METHODS: CSF tPA and urokinase (uPA) activities were studied using an immunocapture assay and zymography in 44 patients with neurological disease and 20 reference subjects. The patient group comprised three patients with meningitis, 21 with encephalitis, nine with acute lymphoblastic (n = 7) and myeloid (n = 2) leukaemia, seven with multiple sclerosis, three with facial paresis, and one with polyradiculitis. RESULTS: Raised tPA activities were observed in patients with multiple sclerosis, leukaemia and encephalitis. In contrast, there were no differences in the mean activities of tPA in patients with meningitis or other diseases compared with the reference subjects. The highest tPA activities were found in patients with multiple sclerosis. The mean activity in patients with leukaemia was higher than in those with meningitis and polyradiculitis, but not encephalitis and facial paresis. Although the CSF tPA activity correlated positively with age in reference subjects, no correlation was observed in patients. Samples were qualitatively screened for both tPA and uPA activity by zymography and positive samples were quantitated. Some of the samples had quantifiable levels of uPA activity: three of seven multiple sclerosis samples...

Antibodies against glutamic acid decarboxylase: prevalence in neurological diseases

Meinck, H; Faber, L; Morgenthaler, N; Seissler, J; Maile, S; Butler, M; Solimena, M; DeCamilli, P; Scherbaum, W.
Fonte: BMJ Group Publicador: BMJ Group
Tipo: Artigo de Revista Científica
Publicado em /07/2001 EN
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High prevalence of autoantibodies against glutamic acid decarboxylase (GAD-Ab) in stiff man syndrome (SMS) not only helps diagnosis, but also suggests immune mediated impairment of GABAergic functions. However, the presence of GAD-Ab has also been reported in other neurological syndromes. Therefore the prevalence of GAD-Ab was investigated in SMS, progressive encephalomyelitis with rigidity and myoclonus (PERM), and in other neurological diseases (OND).
Serum antibodies against the GAD isoforms, GAD65 and GAD67, were investigated with radioimmunoassays in 13 patients with SMS, nine with PERM, 279 consecutive patients with OND, and in 100normal controls.
RESULTS—Prevalence of GAD65Ab was around 80% in patients with SMS/PERM compared with 5% in patients with OND and 1% in normal controls. Prevalence of GAD67Ab was 60% in SMS/PERM, 2% in patients with OND, and 1% in normal controls. Raised GAD-Ab clustered in an OND subgroup with sporadic progressive ataxia, but not in OND subgroups with recognised neuroimmunological diseases.
 In conclusion, increased GAD-Ab is neither a non-specific epiphenomenon of neuronal damage nor a common feature of recognised neuroimmunological disorders. In neurological diseases, GAD-Ab may be a pathogenetic agent or a marker for an ongoing autoimmune process...

Receptor for advanced glycation end products: its role in Alzheimer’s disease and other neurological diseases

Lue, Lih-Fen; Walker, Douglas Gordon; Jacobson, Sandra; Sabbagh, Marwan
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em //2009 EN
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The receptor for advanced glycation end products (RAGE) has been demonstrated to play a central role in the pathogenic mechanisms of a growing number of important neurological diseases, including Alzheimer’s disease (AD) and stroke. Two functional types of RAGE have been associated with neurological diseases: cell membrane-bound (full length) and soluble. In general, ligand binding to full-length RAGE initiates sustained cellular activation and receptor-dependent signaling resulting in inflammation and cellular stress, and is ultimately associated with increased RAGE expression. By comparison, soluble forms of RAGE, generated either by alternative splicing or by proteolysis, can reduce the severity of the consequence of ligand-membrane RAGE interactions by preventing ligands from binding to the full-length RAGE. This can inhibit the neurotoxic or proinflammatory responses involved in disease states. This article reviews the pathobiology of RAGE, with emphasis on soluble forms of RAGE, and discusses its relevance to AD and to other neurological diseases, as well as how manipulation of the different forms of RAGE is becoming a powerful therapeutic strategy.

Functions of noncoding RNAs in neural development and neurological diseases

Bian, Shan; Sun, Tao
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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The development of the central nervous system (CNS) relies on precisely orchestrated gene expression regulation. Dysregualtion of both genetic and environmental factors can affect proper CNS development and results in neurological diseases. Recent studies have shown that similar to protein coding genes, noncoding RNA molecules have a significant impact on normal CNS development and on causes and progression of human neurological disorders. In this review, we have highlighted discoveries of functions of noncoding RNAs, in particular microRNAs and long noncoding RNAs, in neural development and neurological diseases. Emerging evidence has shown that microRNAs play an essential role in many aspects of neural development, such as proliferation of neural stem cells and progenitors, neuronal differentiation, maturation and synaptogenesis. Misregulation of microRNAs is associated with some mental disorders and neurodegeneration diseases. In addition, long noncoding RNAs are found to play a role in neural development by regulating expression of protein coding genes. Therefore, examining noncoding RNA-mediated gene regulations has revealed novel mechanisms of neural development and provided new insights into the etiology of human neurological diseases.

The Protective and Therapeutic Function of Small Heat Shock Proteins in Neurological Diseases

Brownell, Sara E.; Becker, Rachel A.; Steinman, Lawrence
Fonte: Frontiers Research Foundation Publicador: Frontiers Research Foundation
Tipo: Artigo de Revista Científica
Publicado em 01/05/2012 EN
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Historically, small heat shock proteins (sHSPs) have been extensively studied in the context of being intracellular molecular chaperones. However, recent studies looking at the role of sHSPs in neurological diseases have demonstrated a near universal upregulation of certain sHSPs in damaged and diseased brains. Initially, it was thought that sHSPs are pathological in these disease states because they are found in the areas of damage. However, transgenic overexpression and exogenous administration of sHSPs in various experimental disease paradigms have shown just the contrary – that sHSPs are protective, not pathological. This review examines sHSPs in neurological diseases and highlights the potential for using these neuroprotective sHSPs as novel therapeutics. It first addresses the endogenous expression of sHSPs in a variety of neurological disorders. Although many studies have examined the expression of sHSPs in neurological diseases, there are no review articles summarizing these data. Furthermore, it focuses on recent studies that have investigated the therapeutic potential of sHSPs for neurological diseases. Finally, it will explain what we think is the function of endogenous sHSPs in neurological diseases.

Genome-Wide Approaches to Dissect the Roles of RNA Binding Proteins in Translational Control: Implications for Neurological Diseases

Kapeli, Katannya; Yeo, Gene W.
Fonte: Frontiers Research Foundation Publicador: Frontiers Research Foundation
Tipo: Artigo de Revista Científica
Publicado em 02/10/2012 EN
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Translational control of messenger RNAs (mRNAs) is a key aspect of neurobiology, defects of which can lead to neurological diseases. In response to stimuli, local translation of mRNAs is activated at synapses to facilitate long-lasting forms of synaptic plasticity, the cellular basis for learning, and memory formation. Translation, as well as all other aspects of RNA metabolism, is controlled in part by RNA binding proteins (RBPs) that directly interact with mRNAs to form mRNA-protein complexes. Disruption of RBP function is becoming widely recognized as a major cause of neurological diseases. Thus understanding the mechanisms that govern the interplay between translation control and RBP regulation in both normal and diseased neurons will provide new opportunities for novel diagnostics and therapeutic intervention. As a means of studying translational control, genome-wide methods are emerging as powerful tools that have already begun to unveil mechanisms that are missed by single-gene studies. Here, we describe the roles of RBPs in translational control, review genome-wide approaches to examine translational control, and discuss how the application of these approaches may provide mechanistic insight into the pathogenic underpinnings of RBPs in neurological diseases.

Helicobacter pylori and neurological diseases: Married by the laws of inflammation

Álvarez-Arellano, Lourdes; Maldonado-Bernal, Carmen
Fonte: Baishideng Publishing Group Inc Publicador: Baishideng Publishing Group Inc
Tipo: Artigo de Revista Científica
EN
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The purpose of this paper is to review current information about the role of inflammation caused by Helicobacter pylori (H. pylori) infection in neurological diseases such as Parkinson’s disease, Alzheimer’s disease, Guillain-Barré syndrome, multiple sclerosis, and other inflammatory diseases including ischemic stroke. Infection with H. pylori usually persists throughout life, resulting in a chronic inflammatory response with local secretion of numerous inflammatory mediators including chemokines [interleukin (IL)-8, macrophage chemotactic protein (MCP)-1, growth-regulated oncogene (GRO)-α] and cytokines [IL-1β, tumor necrosis factor (TNF)-α, IL-6, IL-12, interferon (IFN)-γ], which can pass into the circulation and have a systemic effect. The persistence of detectable systemic and local concentrations of inflammatory mediators is likely to alter the outcome of neurological diseases. These proinflammatory factors can induce brain inflammation and the death of neurons and could eventually be associated to Parkinson’s disease and also may be involved in the development of Alzheimer’s disease. However, most neurological diseases are the result of a combination of multiple factors, but the systemic inflammatory response is a common component and determinant in the onset...

Estudo comparativo da qualidade de vida relacionada à saúde de crianças e adolescentes com doença neurológica incapacitante

Santana, Anna Flávia de Oliveira
Fonte: Universidade Federal de Uberlândia Publicador: Universidade Federal de Uberlândia
Tipo: Dissertação
POR
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Crianças e adolescentes com transtorno autista (TA), paralisia cerebral (PC), mielomeningocele (MM) e síndrome de Down (SD) apresentam impacto negativo no bemestar físico e psicossocial em relação à população saudável. Porém, não há evidências científicas de que essas doenças neurológicas ocasionam impactos diferentes na qualidade de vida relacionada à saúde (QVRS) de pacientes pediátricos. Este estudo teve o objetivo de identificar os grupos mais vulneráveis com esses diagnósticos, por meio da avaliação e comparação da QVRS de crianças e adolescentes, pela perspectiva dos cuidadores. Participaram do estudo 329 crianças e adolescentes que compuseram os grupos de indivíduos com doença neurológica incapacitante (DNI) (n= 169 [19 com TA, 96 com PC, 30 com MM e 24 com SD]) e o grupo de indivíduos saudáveis (n = 160). Os cuidadores forneceram iinformações demográficas e clínicas e preencheram o questionário genérico de QVRS Child Health Questionnaire - Parent Form 50 (CHQ-PF50). O coeficiente alfa de Cronbach foi calculado para determinar a confiabilidade do questionário de QVRS. Foram realizadas comparações entre os escores do CHQ-PF50 obtidos pelas crianças e adolescentes (teste de Kruskal-Wallis) e entre as variáveis demográficas dos participantes e dos cuidadores (teste de Kruskal-Wallis ou Qui-quadrado) entre todos os grupos. A mediana de idade no grupo de pacientes com DNI foi de 8...

Neurological diseases of ruminant livestock in Australia. II: toxic disorders and nutritional deficiencies

Finnie, J.; Windsor, P.; Kessell, A.
Fonte: Australian Veterinary Assn Publicador: Australian Veterinary Assn
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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The second in this series of clinical reviews on neurological diseases in ruminant livestock in Australia examines toxic disorders associated with plant and microbial toxins as well as the neurological effects of vitamin and mineral deficiencies. The aim of these reviews is to assist in the surveillance of neurological diseases, especially the transmissible spongiform encephalopathies.; J. W. Finnie, P. A. Windsor and A. E. Kessell

Neurological diseases of ruminant livestock in Australia. I: general neurological examination, necropsy procedures and neurological manifestations of systemic disease, trauma and neoplasia

Finnie, J.; Windsor, P.; Kessell, A.
Fonte: Australian Veterinary Assn Publicador: Australian Veterinary Assn
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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Disease surveillance is an integral part of most veterinary practices in Australia. The aim of this series of invited reviews is to facilitate the differential and ultimately definitive diagnosis of some of the previously known, as well as the novel and emerging, neurological disorders of ruminant livestock, which is of particular importance in the surveillance for transmissible spongiform encephalopathies. General principles of a systematic neurological examination, necropsy procedures and the neurological manifestations of systemic disease, trauma and neoplasia are described here.; J.W Finnie, P.A Windsor and A.E Kessell

Neurological diseases of ruminant livestock in Australia. III: bacterial and protozoal infections

Kessell, A.; Finnie, J.; Windsor, P.
Fonte: Australian Veterinary Assn Publicador: Australian Veterinary Assn
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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Bacteria (including chlamydia) and protozoa can produce neurological disease in Australian ruminant livestock and the nature of the inflammatory and neuroparenchymal response is often suggestive of a particular aetiological agent. An overview of the clinicopathological features of infectious disease affecting the central nervous system (CNS) is followed by a discussion of important bacterial and protozoal infections in Australia. Each infectious disease is discussed in terms of classification and pathogenesis linked to clinical signs and gross and microscopic findings. The literature review is restricted to infectious conditions causing CNS disease in Australia. Sources include the Australian Veterinary Journal (over 50 years of articles), the quarterly newsletter of the National Animal Health Surveillance System and the Animal Health Surveillance Quarterly.; AE Kessell, JW Finnie and PA Windsor

Review of neurological diseases of ruminant livestock in Australia. VI: postnatal bovine, and ovine and caprine, neurogenetic disorders

Windsor, P.; Kessell, A.; Finnie, J.
Fonte: Australian Veterinary Assn Publicador: Australian Veterinary Assn
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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This paper, the last in a series of reviews of neurological diseases of ruminants in Australia, discusses a range of neurogenetic disorders of cattle, sheep and goats, including necrotising encephalomyelopathy, glycogen storage disorders, cerebellar abiotrophy and β-mannosidosis. They are categorised by the species and breeds in which they occur.; P.A. Windsor, A.E. Kessell and J.W. Finnie

Patterns of histone acetylation as targets for novel therapeutic approaches in neurological diseases; Muster der Histon-Azetylierung als Ziele für neue therapeutische Ansätze bei neurologischen Erkrankungen

Ebrahimi, Azadeh
Fonte: Universidade de Tubinga Publicador: Universidade de Tubinga
Tipo: Dissertação
EN
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Neurological diseases, in particular brain tumors and neurodegenerative disorders, cause significant socio-economic burdens on societies. Exploring epigenetic mechanisms in neurological disorders in recent decades has been an emerging tool for describing the pathogenesis of neurological diseases as well as developing new therapeutics. Global histone acetylation is an epigenetic entity whose alternating patterns in various neurological diseases have recently raised special attention concerning its potency for therapeutic development. I investigated patterns of global histone 3 lysine 9 acetylation (H3K9Ac) in various brain tumors and neurodegenerative animal models, such as APPPS1-21 mice model of Alzheimer’s disease (AD), in order to find out the relevance of this target to clinical outcome of the disease and it potency as a target for therapeutic development. I also tried to find out whether natural products with promising neuroprotective effects in preclinical studies affect H3K9Ac status of the nuclei in the studied models. In the present study, it was shown that H3K9Ac levels change variably in different brain diseases including benign and malignant tumors as well as neurodegenerative conditions such as AD. In brain tumors...

Neurological Diseases in the Dalton Trevisan´s Short Stories; Doenças Neurológicas nos Contos de Dalton Trevisan

Teive, Hélio A.G.; Serviço de Neurologia. Departamento de Medicina Interna. Hospital de Clínicas. Universidade Federal do Paraná. Curitiba. Brasil.; Munhoz, Renato P.; Setor de Distúrbios do Movimento, Serviço de Neurologia. Departamento de Medicina
Fonte: Ordem dos Médicos Publicador: Ordem dos Médicos
Tipo: info:eu-repo/semantics/article; article; info:eu-repo/semantics/publishedVersion Formato: application/pdf; application/pdf
Publicado em 30/04/2014 POR; ENG
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Introduction: The relationship between fictional literature and Medicine, particularly Neurology, is very wide. The aim of this review is to analyze the Dalton Trevisan´s work, considered the most important Brazilian short stories writer, focusing in the description of neurological diseases.Material and Methods: A comprehensive evaluation of Dalton Trevisan´s texts in books published between 1959 and 2012.Results: Descriptions of the common neurological diseases embedded in Trevisan´s work, such as, epilepsy and stroke, are presented.Discussion: This review disclosed neurological conditions highly prevalent in the general population, namely epilepsy and stroke,which have deserved a practical and objective approach by the Brazilian master of the short stories.Conclusion: The fictional World of the famous Brazilian writer Dalton Trevisan is punctuated by everyday routine facts, which are however flavored with the tragic-grotesque touch so peculiar to the author. Neurological diseases, particularly epilepsy and stroke, are no exception to this universe and are exquisitely described by the writer.; Introdução: A relação entre a Literatura ficcional e a Medicina, em particular com a Neurologia, é bastante ampla. O objetivo desta revisão é de analisar a obra de Dalton Trevisan...

The Importance of Evaluating Symptoms and Functional Alterations in Chronic Neurological Diseases: Experiences in Palliative Care and Rehabilitation at a Colombian Institution; La importancia de evaluar síntomas y alteraciones funcionales en enfermedades neurológicas crónicas: experiencia en cuidado paliativo y rehabilitación en una institución colombiana; A importância da avaliação de sintomas e limitações funcionais nas doenças neurológicas crônicas: experiência em cuidados paliativos e de reabilitação em uma instituição na Colõmbia

León-Delgado, Marta Ximena; Universidad de La Sabana; Flórez-Rojas, Sandra Patricia; Universidad de La Sabana; Torres, Marcela; Universidad de La Sabana; Rengifo-Varona, María Leonor; Clínica Universitaria Teletón; Prada, Diana; Clínica de la Polic
Fonte: Aquichan Publicador: Aquichan
Tipo: Artigo de Revista Científica
SPA
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There is an increase in the prevalence of neurological diseases and the burden they impose. Therefore, identifying the frequency of symptoms and the functional alterations is of paramount importance to develop an adequate treatment plan. A cross-sectional study was carried out to pinpoint the main symptoms and functional alterations in neurological patients at a rehabilitation center in Colombia. The five most frequent symptoms and functional alterations identified were: walking disorders (65.5%), communication disorders (36.98%), memory and emotional alterations (38%), pain (29.45%), and alterations in activities of daily living (24.3%). Fifty percent of the patients who reported pain, 30% of those who complained of insomnia, and 80% of those who mentioned constipation did not receive treatment during the first consultation. Some of the identified symptoms are not characteristics that define the disease, and are not always the subject of intervention. The results of this study can contribute to recognition of the burden of the symptoms of neurological diseases, by making health professionals more aware of the importance of palliative care for patients with non-oncological progressive diseases.; Existe un incremento en la prevalencia de enfermedades neurológicas y su carga de enfermedad. Debido a ello...

Molecular Imaging in Traditional Chinese Medicine Therapy for Neurological Diseases

Wang, Zefeng; Wan, Haitong; Li, Jinhui; Zhang, Hong; Tian, Mei
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
EN
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With the speeding tendency of aging society, human neurological disorders have posed an ever increasing threat to public health care. Human neurological diseases include ischemic brain injury, Alzheimer's disease, Parkinson's disease, and spinal cord injury, which are induced by impairment or specific degeneration of different types of neurons in central nervous system. Currently, there are no more effective treatments against these diseases. Traditional Chinese medicine (TCM) is focused on, which can provide new strategies for the therapy in neurological disorders. TCM, including Chinese herb medicine, acupuncture, and other nonmedication therapies, has its unique therapies in treating neurological diseases. In order to improve the treatment of these disorders by optimizing strategies using TCM and evaluate the therapeutic effects, we have summarized molecular imaging, a new promising technology, to assess noninvasively disease specific in cellular and molecular levels of living models in vivo, that was applied in TCM therapy for neurological diseases. In this review, we mainly focus on applying diverse molecular imaging methodologies in different TCM therapies and monitoring neurological disease, and unveiling the mysteries of TCM.

Neurological diseases and pain

Borsook, David
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
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Chronic pain is a frequent component of many neurological disorders, affecting 20–40% of patients for many primary neurological diseases. These diseases result from a wide range of pathophysiologies including traumatic injury to the central nervous system, neurodegeneration and neuroinflammation, and exploring the aetiology of pain in these disorders is an opportunity to achieve new insight into pain processing. Whether pain originates in the central or peripheral nervous system, it frequently becomes centralized through maladaptive responses within the central nervous system that can profoundly alter brain systems and thereby behaviour (e.g. depression). Chronic pain should thus be considered a brain disease in which alterations in neural networks affect multiple aspects of brain function, structure and chemistry. The study and treatment of this disease is greatly complicated by the lack of objective measures for either the symptoms or the underlying mechanisms of chronic pain. In pain associated with neurological disease, it is sometimes difficult to obtain even a subjective evaluation of pain, as is the case for patients in a vegetative state or end-stage Alzheimer's disease. It is critical that neurologists become more involved in chronic pain treatment and research (already significant in the fields of migraine and peripheral neuropathies). To achieve this goal...

Células-tronco pluripotentes e doenças neurológicas; Pluripotent stem cells and neurological diseases

Muotri, Alysson Renato
Fonte: Universidade de São Paulo. Instituto de Estudos Avançados Publicador: Universidade de São Paulo. Instituto de Estudos Avançados
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; ; ; ; ; ; Formato: application/pdf; application/pdf
Publicado em 01/01/2010 POR; ENG
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Grande parte do conhecimento atual dos fenótipos celulares relacionados a doenças neurológicas foi obtida a partir de estudos de tecidos cerebrais coletados após a morte do indivíduo. Essas amostras geralmente representam os estágios finais da doença e, portanto, não servem como fiel representação de como os sintomas aparecem. Além disso, nessas circunstâncias, a patologia observada pode muito bem ser um efeito secundário do processo patológico ou mesmo da deterioração do tecido em vez de um fenótipo celular autêntico. Da mesma forma, modelos animais nem sempre recapitulam exatamente a patologia das doenças em humanos. Neste artigo, pretendo apresentar uma visão crítica dos recentes avanços obtidos a partir da modelagem de doenças neurológicas humanas, utilizando células-tronco pluripotentes. O foco na reprogramação celular de células somáticas, gerando células-tronco pluripotentes induzidas, justifica-se em razão do grande potencial experimental não só para a modelagem de doenças humanas, mas também como ferramenta biotecnológica para triagem de novas drogas, contribuindo para uma futura medicina personalizada.; Most of our current knowledge about cellular phenotypes related to neurological diseases was gathered from studies performed in brain tissue collected postmortem. These samples often represent the end-stage of the disease process and may not represent a fair picture of how the disease developed over time. Futhermore...