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1.
Rev Neurol (Paris) ; 172(1): 56-8, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26708620

RESUMO

France is a country for which the epidemiology of migraine is very well known. Based on the results of the main studies over the last 20 years, this brief review presents the key descriptive data for French migraine epidemiology, and considers its prevalence, individual impact, recognition and medical management, and social impact.


Assuntos
Transtornos de Enxaqueca/epidemiologia , França/epidemiologia , Humanos
2.
Rev Neurol (Paris) ; 169(5): 372-9, 2013 May.
Artigo em Francês | MEDLINE | ID: mdl-23602116

RESUMO

Migraine is a complex brain disease. The "generator" of the migrainous attacks remains a subject of debate, but the hypothalamus, with its multiple connections with the other parts of the central nervous system and its controls on the pituitary gland and the autonomic nervous system, is a very serious candidate. Many of the premonitory symptoms of migraine attacks find their origin in the hypothalamus. The hormonal changes which occur during feminine genital life and which impact on the life of the migrainous women have their origin in the hypothalamus. The hypothalamus exerts control over the balance between the parasympathetic and orthosympathetic systems. Orexine, hormones originating in the hypothalamic, are involved in sleep regulation, thermoregulation and neuroendocrine and nociceptive functions. They could play a crucial role in the origin of the migrainous attack and might explain the influence of sleep, eating habits and excessive weight in the occurrence of attacks. Hypothalamic cerebral activation via H2 15OPET activity, suspected by clinical and experimental arguments as a possible trigger for migraine, has been demonstrated during spontaneous attacks. However, no conclusion can be made however as to whether this activation is the cause or the consequence of the migrainous pain.


Assuntos
Hipotálamo/fisiopatologia , Transtornos de Enxaqueca/etiologia , Transtornos de Enxaqueca/fisiopatologia , Ritmo Circadiano/fisiologia , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/fisiologia , Neuroimagem , Neuropeptídeos/fisiologia , Sistemas Neurossecretores/fisiologia , Nociceptividade/fisiologia , Obesidade/complicações , Obesidade/fisiopatologia , Orexinas
3.
Brain ; 133(Pt 4): 1214-23, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20237130

RESUMO

Deep brain stimulation of the posterior hypothalamus is a therapeutic approach to the treatment of refractory chronic cluster headache, but the precise anatomical location of the electrode contacts has not been clearly assessed. Our aim was to study the location of the contacts used for chronic stimulation, projecting each contact centre on anatomic atlases. Electrodes were implanted in a series of 10 patients (prospective controlled trial) in the so-called 'posteroinferior hypothalamus' according to previously described coordinates, i.e. 2 mm lateral, 3 mm posterior and 5 mm below the mid-commissural point. The coordinates of the centre of each stimulating contact were measured on postoperative computed tomography or magnetic resonance imaging scans, taking into account the artefact of the electrode. Each contact centre (n=10; left and right hemispheres pooled) was displayed on the Schaltenbrand atlas and a stereotactic three dimensional magnetic resonance imaging atlas (4.7 tesla) of the diencephalon-mesencephalic junction for accurate anatomical location. Of the 10 patients with 1-year follow-up, 5 responded to deep brain stimulation (weekly frequency of attacks decrease >50%). In responders, the mean (standard deviation) coordinates of the contacts were 2.98 (1.16) mm lateral, 3.53 (1.97) mm posterior and 3.31 (1.97) mm below the mid-commissural point. All the effective contacts were located posterior to the hypothalamus. In responders, structures located <2 mm from the centres of effective contacts were: the mesencephalic grey substance (5/5), the red nucleus (4/5), the fascicle retroflexus (4/5), the fascicle longitudinal dorsal (3/5), the nucleus of ansa lenticularis (3/5), the fascicle longitudinal medial (1/5) and the thalamus superficialis medial (1/5). The contact coordinates (Wilcoxon test) and the structures (Fisher's exact test) were not significantly different between responders and non-responders. These findings suggest that failure of deep brain stimulation treatment in cluster headache may be due to factors unrelated to electrode misplacement. They also suggest that the therapeutic effect is probably not related to direct hypothalamic stimulation. Deep brain stimulation might modulate either a local cluster headache generator, located in the hypothalamus or in the mesencephalic grey substance, or non-specific anti-nocioceptive systems.


Assuntos
Encéfalo/anatomia & histologia , Cefaleia Histamínica/patologia , Cefaleia Histamínica/terapia , Estimulação Encefálica Profunda/instrumentação , Estimulação Encefálica Profunda/métodos , Adolescente , Adulto , Idoso , Eletrodos Implantados , Seguimentos , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
4.
Cephalalgia ; 30(10): 1207-13, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20855366

RESUMO

METHODS: SMILE was an observational study carried out in France among office-based general practitioners (GPs) and neurologists from November 2005 to July 2006 to assess the determinants of prescription of migraine preventive therapy in primary care medicine. A total of 1467 GPs and 83 neurologists were included, treating 5417 and 248 migraine sufferers, respectively. RESULTS: The main factors leading physicians to deem a patient eligible for preventive treatment were perceived medication overuse and frequency of headaches, and secondarily, severity of headaches and functional impact. On the other hand, patient satisfaction with the acute treatment of attacks and triptan use, and secondarily, a long migraine history were found to influence patient eligibility negatively. DISCUSSION/CONCLUSION: Noticeably, psychiatric disorders (anxiety, stress) did not appear, aside from somatic factors, among the determinants that significantly influence physicians' judgment about the option of establishing a preventive treatment. However, they are important features of migraine condition and should be listed among the factors guiding choices about migraine preventive therapy.


Assuntos
Transtornos de Enxaqueca/prevenção & controle , Médicos de Atenção Primária/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Analgésicos/uso terapêutico , Ansiedade/etiologia , Feminino , França , Clínicos Gerais , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/psicologia , Neurologia , Observação , Médicos de Atenção Primária/psicologia , Atenção Primária à Saúde , Inquéritos e Questionários
5.
J Cell Biol ; 142(5): 1159-66, 1998 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-9732278

RESUMO

During Xenopus laevis early development, the genome is replicated in less than 15 min every 30 min. We show that during this period, DNA replication proceeds in an atypical manner. Chromosomes become surrounded by a nuclear membrane lamina forming micronuclei or karyomeres. This genomic organization permits that prereplication centers gather on condensed chromosomes during anaphase and that DNA replication initiates autonomously in karyomeres at early telophase before nuclear reconstruction and mitosis completion. The formation of karyomeres is not dependent on DNA replication but requires mitotic spindle formation and the normal segregation of chromosomes. Thus, during early development, chromosomes behave as structurally and functionally independent units. The formation of a nuclear envelope around each chromosome provides an in vivo validation of its role in regulating initiation of DNA replication, enabling the rate of replication to accelerate and S phase to overlap M phase without illegitimate reinitiation. The abrupt disappearance of this atypical organization within one cell cycle after thirteen divisions defines a novel developmental transition at the blastula stage, which may affect both the replication and the transcription programs of development.


Assuntos
Replicação do DNA/genética , Xenopus laevis/crescimento & desenvolvimento , Animais , Ciclo Celular/fisiologia , Divisão Celular/genética , Núcleo Celular/fisiologia , Cromossomos/metabolismo , Desenvolvimento Embrionário , Imunofluorescência , Genoma , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Micronúcleos com Defeito Cromossômico/genética
6.
Rev Neurol (Paris) ; 170(3): 162-76, 2014 Mar.
Artigo em Francês | MEDLINE | ID: mdl-24594364
8.
Cephalalgia ; 28(8): 856-62, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18513260

RESUMO

In cerebral blood flow studies, migraine aura is characterized by a posterior cortical hypoperfusion. In contrast, only rare and mild changes in brain perfusion have been demonstrated in migraine without aura, suggesting two different haemodynamic patterns in migraine with and without aura. Our aim was to study hypoperfusion with positron emission tomography (PET) as early as possible during spontaneous migraine without aura attacks. We used H(2) (15)O PET to investigate seven patients (six female, one male) with migraine without aura (International Classification of Headache Diseases-II code 1.1) in three situations: during the headache phase, after headache relief following sumatriptan injection, and during an attack-free interval. Statistical analysis was performed with SPM2. Within 4 h after the attack onset, significant relative bilateral posterior cortical hypoperfusion was found and persisted after headache relief following sumatriptan injection. A posterior cortical hypoperfusion demonstrated in migraine without aura could suggest a common pathogenesis in migraine with and without aura. The significance of relative posterior hypoperfusion in migraine without aura is discussed according to the current knowledge of migraine pathogenesis.


Assuntos
Velocidade do Fluxo Sanguíneo , Isquemia Encefálica/fisiopatologia , Encéfalo/fisiopatologia , Circulação Cerebrovascular , Enxaqueca sem Aura/fisiopatologia , Adulto , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Isquemia Encefálica/diagnóstico por imagem , Feminino , Humanos , Masculino , Enxaqueca sem Aura/diagnóstico por imagem , Cintilografia
9.
Cephalalgia ; 28(11): 1115-25, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18644041

RESUMO

The objectives of the SMILE study were to assess anxiety, stress, depression, functional impact and coping behaviours in migraine patients consulting in primary care in France. General practitioners (n = 1467) and 83 neurologists included 5417 consulting migraine patients. Of these patients, 67% were found anxious, of whom 59% were also depressive. Patients with both anxiety and depressive dimensions showed a profile similar to that of chronic migraine patients (severe attacks, poor treatment effectiveness and pronounced stress, functional impact and maladaptive behaviours). A quantitative progression in the levels of stress, maladaptive coping behaviours and functional impact was noted from patients with neither dimension to those with both anxious and depressive dimensions. Stress and maladaptive coping strategies were found to be major determinants of anxiety. Anxious and depressive dimensions were associated with elevated consumption of acute treatments for migraine and low treatment effectiveness. Stress and anxiety should be looked for carefully in migraine patients.


Assuntos
Adaptação Psicológica , Ansiedade/complicações , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/psicologia , Estresse Psicológico/complicações , Adolescente , Adulto , Analgésicos/uso terapêutico , Depressão/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/tratamento farmacológico , Atenção Primária à Saúde , Inquéritos e Questionários
10.
Cephalalgia ; 28(2): 164-73, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18039338

RESUMO

The SMILE study was conducted among migraine patients consulting in primary care in France. The first phase aimed to describe the study sample of patients at entry to the study, especially emotional dimension (Hospital Anxiety and Depression scale), functional impact (abridged Migraine Specific Questionnaire), stress (Perceived Stress Scale) and coping behaviours (brief COPE inventory avoidance subscale, Coping Strategies Questionnaire catastrophizing subscale), as well as treatments used and their effectiveness and treatments prescribed at end of consultation. Results indicate that consulting migraine patients suffer frequent migraine attacks, exhibit substantial levels of anxiety, functional impact and stress, and often use maladaptive coping strategies. Abortive treatments appear ineffective in most patients (74%). Patients with more affected psychometric variables and treatment ineffectiveness are more likely to be deemed eligible for prophylactic treatment. These data highlight the seriousness of migraine and maladjustment of patients consulting in primary care.


Assuntos
Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/psicologia , Atenção Primária à Saúde , Acetaminofen/uso terapêutico , Adaptação Psicológica , Adulto , Analgésicos não Narcóticos/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Ansiedade/etiologia , Estudos de Coortes , Depressão/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estresse Psicológico/etiologia , Resultado do Tratamento , Triptaminas/uso terapêutico
11.
Cephalalgia ; 28(4): 383-91, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18294251

RESUMO

The study was designed to compare the response to almotriptan in migraine patients who take medication early in the course of the attack with that when medication is taken after pain has become moderate or severe. A randomized, four-arm, multicentre, multinational, double-blind, placebo-controlled trial of almotriptan (12.5 mg) comparing treatment administration when pain intensity was mild and within 1 h of headache onset vs. pain that had become moderate or severe was conducted. Of 491 migraineurs enrolled, 403 were evaluable [intention-to-treat population (ITT)]. Their mean age was 38 years, 84% were female and they had a mean of 3.7 attacks/month. Of these patients, 10% did not take medication according to their randomly allocated basal pain intensity (mild or moderate/severe) and were subsequently reassigned to that group for this analysis-'Act when Mild (AwM)' group. In the almotriptan arms, 53% of mild basal pain and 38% of moderate/severe basal pain patients were pain free at 2 h (P = 0.03; primary end-point). Corresponding proportions in the placebo groups were 25% and 17% (statistically significant vs. respective almotriptan arms). Secondary end-points (ITT) were also significantly in favour of early intervention with almotriptan, both between and across treatment groups, such as sustained pain free: 45.6% vs. 30.5% (P = 0.02). Adverse events were reported in < 5% of treated patients in all groups (NS), with no serious events. Treatment with almotriptan while migraine pain is still mild provides statistically significant and clinically relevant enhancements in efficacy compared with treatment when pain has reached higher severity levels.


Assuntos
Enxaqueca com Aura/tratamento farmacológico , Enxaqueca sem Aura/tratamento farmacológico , Agonistas do Receptor de Serotonina/administração & dosagem , Índice de Gravidade de Doença , Triptaminas/administração & dosagem , Atividades Cotidianas , Doença Aguda , Adolescente , Adulto , Idoso , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cervicalgia , Placebos , Recidiva , Agonistas do Receptor de Serotonina/efeitos adversos , Dor de Ombro , Fatores de Tempo , Resultado do Tratamento , Triptaminas/efeitos adversos
13.
J Neurol Neurosurg Psychiatry ; 78(12): 1354-8, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17442761

RESUMO

BACKGROUND: Cluster headache (CH) is a relatively rare disease and episodic CH is more frequent than chronic CH. Few studies have described the characteristics of patients with chronic CH. METHODS: This was a descriptive study carried out by eight tertiary care specialist headache centres in France participating in the Observatory of Migraine and Headaches (OMH). From 2002 to 2005, OMH collected data from 2074 patients with CH, of whom 316 had chronic CH. From January to June 2005, 113 patients with chronic CH were interviewed using standardised questionnaires during a consultation. RESULTS: The male to female ratio was 4.65:1. Median age was 42 years. The majority of patients were smokers or former smokers (87%). 46% had primary chronic CH (chronic at onset) and 54% secondary chronic CH (evolving from episodic CH). Most patients had unilateral pain during attacks and 7% had sometimes bilateral pain during an attack. 48% reported a persisting painful state between attacks. Symptoms anteceding pain onset (mainly discomfort/diffuse pain, exhaustion, mood disorders) and auras were reported by 55% and 20% of patients, respectively. The functional impact of chronic CH was estimated as severe by 74% of patients, and 75.7% suffered from anxiety, as assessed by the Hospital Anxiety and Depression scale. There was no substantial difference in clinical presentation between primary and secondary CH. DISCUSSION: This study confirms the existence of auras and interictal signs and symptoms in patients with chronic CH, and male sex and smoking as CH risk factors. Primary and secondary chronic CH appear equally prevalent. Male sex does not appear to favour the shift from episodic to chronic CH.


Assuntos
Cefaleia Histamínica/diagnóstico , Cefaleia Histamínica/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encéfalo/fisiopatologia , Cefaleia Histamínica/epidemiologia , Feminino , Seguimentos , França/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Abuso de Maconha/epidemiologia , Pessoa de Meia-Idade , Prevalência , Fumar/epidemiologia , Inquéritos e Questionários , Tomografia Computadorizada por Raios X
14.
Mol Biol Cell ; 8(1): 145-56, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9017602

RESUMO

The distribution of the ribosomal genes (rDNA) and the upstream binding factor (UBF), correlatively with their RNA transcripts, was investigated in G1, S-phase, and G2. rDNA was distributed in nucleoli, with alternate sites of clustered and dispersed genes. UBF was found associated with some but not all clustered genes and proportionally more with dispersed genes. It was distributed in several foci that were more numerous and heterogeneous in size during G2 than G1. We suggest that UBF associated with rDNA during S-phase because its nucleolar amount increased during that time and remained stable in G2. 5,6-Dichloro-1-beta-D-ribofuranosylbenzimidazole treatment indicated a similar amount of UBF per transcription unit, and consequently heterogeneous size of the UBF foci can represent a variable number of transcription units per foci. Direct visualization of the transcripts demonstrated that only part of UBF is associated with active transcription and that rDNA distribution varied with transcription. We propose that in the same rDNA locus three types of configuration coexist that are correlated with gene activity: 1) clustered genes without UBF; 2) clustered genes with UBF, of which some are associated with transcription; and 3) dispersed genes with UBF and transcription. These results support the hypothesis that rDNA transcription involved several steps of regulation acting successively and locally in the same locus to promote the repressed clustered genes to become actively transcribed dispersed genes.


Assuntos
DNA Ribossômico/química , DNA Ribossômico/metabolismo , Proteínas de Ligação a DNA/metabolismo , Proteínas Pol1 do Complexo de Iniciação de Transcrição , RNA Ribossômico/genética , Fatores de Transcrição/metabolismo , Transcrição Gênica , Animais , Nucléolo Celular/fisiologia , Células Cultivadas , DNA Ribossômico/genética , Proteínas de Ligação a DNA/genética , Interfase , Rim/citologia , Modelos Moleculares , Conformação de Ácido Nucleico , RNA Polimerase I/metabolismo , Precursores de RNA/genética , Precursores de RNA/metabolismo , Fatores de Transcrição/genética
15.
Rev Neurol (Paris) ; 161(6-7): 666-70, 2005 Jul.
Artigo em Francês | MEDLINE | ID: mdl-16141953

RESUMO

Due to technical constraints and randomness of migraine attacks, studies using PET are scarce. Nevertheless, these studies have given new insights into migraine pathogenesis. One of the main facts revealed by PET studies is that posterior cerebral hypoperfusion accompanying migraine auras could also be present in migraine attacks without aura. This hypoperfusion is probably due to an increase of intrinsic vasoconstrictive tone in the cerebral circulation. Using PET within 6 hours after the onset of a spontaneous migraine attack, significant activations of brainstem (midbrain and pons) and of hypothalamus, persisting after headache relief by sumatriptan have been shown. These structures could play the role of migraine attack generators, modulating intrinsic vascular tone and central pain transmission.


Assuntos
Transtornos de Enxaqueca/diagnóstico por imagem , Circulação Cerebrovascular/efeitos dos fármacos , Circulação Cerebrovascular/fisiologia , Humanos , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/fisiopatologia , Enxaqueca com Aura/diagnóstico por imagem , Enxaqueca com Aura/tratamento farmacológico , Enxaqueca com Aura/fisiopatologia , Tono Muscular/efeitos dos fármacos , Tono Muscular/fisiologia , Tomografia por Emissão de Pósitrons , Sumatriptana/uso terapêutico , Vasoconstritores/uso terapêutico
16.
Eur J Cell Biol ; 72(1): 30-8, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9013723

RESUMO

Mitogen-activated protein kinase (MAP) is involved in many signal transduction pathways and is activated during meiotic maturation in various species. In this study, we used the rat oocyte to identify some of the control mechanisms involved in MAP kinase activation which is triggered at resumption of meiosis. We examined the respective contribution of this kinase and maturation promoting factor (MPF), or cdc2 kinase, in the regulation of microtubule behavior and in the reorganization of chromatin during meiotic maturation. We found that the resumption of meiotic division in rat oocytes coincided with the activation of MPF and was followed 3 h later by the activation of MAP kinase. The activation of the two kinases also occurred in oocytes undergoing maturation in the presence of the protein phosphatase inhibitor okadaic acid (OA). However, the activation of cdc2 kinase was only partial, whereas activation of MAP kinase was accelerated and began 1 h after the resumption of meiosis, i.e. 2 h earlier than in control oocytes. We also showed that protein synthesis was required to activate MAP kinase, but not cdc2 kinase. However, once MAP kinase was activated, ongoing protein synthesis was not necessary to maintain its activity. These results suggest that a negative regulation of MAP kinase slows down its activation at the resumption of meiosis, mediated through the level of phosphatase activity. Moreover, MAP kinase activation requires protein synthesis, even upon phosphatase inactivation by OA, suggesting also the existence of a positive control pathway. We observed that during the first meiotic M-phase, the spindle did not form immediately after cdc2 kinase activation, but that its formation coincided with the appearance of MAP kinase activity. However, earlier activation of MAP kinase by treatment with OA did not lead to premature spindle formation, but instead a large aster formed consisting of long microtubules radiating from the condensed chromatin. In OA-treated oocytes, spindles did not form and an interphase network of microtubule developed with time. Thus, MAP kinase is unable to substitute for MPF under these conditions, its activity alone being insufficient to maintain the progression through meiotic maturation.


Assuntos
Proteínas Quinases Dependentes de Cálcio-Calmodulina/metabolismo , Microtúbulos/metabolismo , Oogênese , Fosfoproteínas Fosfatases/metabolismo , Animais , Proteína Quinase CDC2/metabolismo , Cromatina , Ativação Enzimática , Feminino , Fator Promotor de Maturação/metabolismo , Meiose , Microtúbulos/fisiologia , Ácido Okadáico/farmacologia , Oócitos/metabolismo , Oócitos/fisiologia , Puromicina/farmacologia , Ratos , Ratos Wistar
17.
Eur J Cell Biol ; 79(6): 423-37, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10928458

RESUMO

First observed as components of non-translated mRNP complexes, prosomes harbour RNase and several proteinase activities; they are also the central constituent of the "Multicatalytic Proteinase (MCP) complexes" or "26S-proteasomes". In two recent publications (Arcangeletti et al., 1997b; De Conto et al., 1997) we have shown, by applying a new fixation technique, that these particles distribute differentially between the cytoskeletal networks of intermediate filament (IF) and actin types; previously they had been observed exclusively on the intermediate filaments. Here we further investigate the distribution of prosomes of several types, distinct by their subunit composition, between the IF of vimentin type and the actin network, as well as in the 3D space of the cell. It is shown that subtypes of prosomes occupy specific networks of the cytoskeleton, and that this pattern is specific for a given cell type. Confocal microscopy shows that prosome cytodistribution is not homogeneous in the 3D space: in the perinuclear area they colocalize most strongly with the IF, and more peripherally with the microfilament/stress fiber system; connections may exist between the two networks. Furthermore, new data indicate that the prosome-actin interaction may participate in the molecular structure of the stress fibers.


Assuntos
Citoesqueleto de Actina/metabolismo , Cisteína Endopeptidases/metabolismo , Células Epiteliais/metabolismo , Fibroblastos/metabolismo , Complexos Multienzimáticos/metabolismo , Músculos/citologia , Actinas/metabolismo , Anticorpos Monoclonais/metabolismo , Linhagem Celular , Citocalasina D/farmacologia , Citoesqueleto/metabolismo , Detergentes/farmacologia , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Processamento de Imagem Assistida por Computador , Immunoblotting , Microscopia Confocal , Octoxinol/farmacologia , Complexo de Endopeptidases do Proteassoma , Fibras de Estresse/metabolismo , Fixação de Tecidos/métodos
18.
Eur J Hum Genet ; 10(11): 773-81, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12404112

RESUMO

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.


Assuntos
Coreia/genética , Mutação , Polimorfismo Genético , Proteínas/genética , Análise Mutacional de DNA , Éxons/genética , Humanos , Proteínas de Transporte Vesicular
19.
J Cereb Blood Flow Metab ; 7(1): 9-12, 1987 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-2879850

RESUMO

Regional cerebral blood flow (CBF) was studied in 51 young schizophrenics. A significant decrease of CBF was seen in frontal and prefrontal regions (hypofrontal pattern) in chronic patients whose disease had evolved for more than 2 years and who were in remission. This hypofrontal pattern was reversible, as it disappeared during exacerbation of the disease. In 10 patients who had not been treated with neuroleptics for several weeks, we found a dopaminergic hypersensitivity in the frontal lobes, as a weak dose of piribedil restored near-normal frontality. This may reflect either the role of neuroleptic washout or a primitive dopaminergic depletion, as proposed by some authors in the chronic form of schizophrenia.


Assuntos
Circulação Cerebrovascular , Lobo Frontal/fisiopatologia , Esquizofrenia/fisiopatologia , Adulto , Antipsicóticos/uso terapêutico , Feminino , Humanos , Masculino , Piribedil/farmacologia , Receptores Dopaminérgicos/fisiologia , Esquizofrenia/tratamento farmacológico
20.
J Cereb Blood Flow Metab ; 3(1): 33-7, 1983 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-6822615

RESUMO

Cerebral blood flow (grey matter flow) in parkinsonism requires further investigation. The noninvasive method of 133Xe inhalation permits study of larger numbers of subjects than previously used invasive techniques such as the intracarotid 133Xe injection method. Measurements were made in this laboratory in 30 subjects having Parkinson's disease. Mean hemispheric blood flow (F1) values were 70.4 +/- 9.3 ml/100 g/min, compared to 76.3 for a group of age-matched normal subjects, which is a decrease of -7.8%. The most striking difference was the loss of the "hyperfrontal distribution" in parkinsonism. The prefrontal F1 values were only 1.8% greater than the hemisphere grey matter flow, compared with 8.5% in controls of a similar age group.


Assuntos
Circulação Cerebrovascular , Doença de Parkinson/fisiopatologia , Adulto , Idoso , Humanos , Métodos , Pessoa de Meia-Idade , Descanso , Vigília , Radioisótopos de Xenônio
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