Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Meningite Criptocócica/etiologia , Complicações Infecciosas na Gravidez/etiologia , Aborto Habitual/etiologia , Contagem de Linfócito CD4 , Diagnóstico Tardio , Suscetibilidade a Doenças , Feminino , Doença de Graves/complicações , Humanos , Hospedeiro Imunocomprometido , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/imunologia , Linfopenia/complicações , Meningite Criptocócica/diagnóstico , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Convulsões/etiologia , Adulto JovemAssuntos
Imagem de Difusão por Ressonância Magnética , Embolia de Colesterol/complicações , Embolia de Colesterol/diagnóstico , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Síndrome , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologiaRESUMO
One hundred and sixty four patients of the Poitou-Charentes area suffering from multiple sclerosis (MS) and treated with an immunomodulating agent for more than 3 months completed a self-administered questionnaire. More than 60p.cent of the patients performed self-injection. For both modes of injection studied (subcutaneous or intramuscular), self-injection was significantly more frequent among patients who were received training and followed via telephone assistance conducted by a nurse with specialized training in MS. Our study demonstrated that waste disposal (needles), especially among patients performing self-injections, remains an important problem. Efforts must be taken concerning this important healthcare issue.
Assuntos
Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/uso terapêutico , Esclerose Múltipla/terapia , Educação de Pacientes como Assunto , Adolescente , Adulto , Idoso , Feminino , Humanos , Injeções Intramusculares , Injeções Subcutâneas , Masculino , Eliminação de Resíduos de Serviços de Saúde , Pessoa de Meia-Idade , Esclerose Múltipla/psicologia , Agulhas , Enfermeiras e Enfermeiros , Autoadministração , Inquéritos e Questionários , TelefoneRESUMO
OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two EA2 families and in one sporadic case. These three mutations disrupted the reading frame and led to truncated proteins. Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). However, except for SCA-6, these genotype-phenotype correlations relied on the analysis of very few families. METHODS: To characterize CACNA1A mutations, eight familial and seven sporadic EA2 patients were selected. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis. In addition, the length of the CAG repeat has been determined in all patients. RESULTS: Seven new mutations were detected in four multiple case families and three sporadic cases. Six of them lead most likely to truncated or aberrant proteins. CAG repeat sizes were in the normal range. CONCLUSION: These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).
Assuntos
Ataxia Cerebelar/genética , Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Mapeamento Cromossômico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Polimorfismo Genético , Fatores de TempoRESUMO
A 58-year-old woman, with recurrent headaches, exhibited cerebellar alaxic gait, anosmia, deafness and a pyramidal syndrome, with a progressive onset. In cerebrospinal fluid there was erythrocytes and siderophages. MRI on T2-weighted images revealed a marginal hypo-intensity, leading to the diagnostic of superficial siderosis of the central nervous system. None haemorragic lesion was found. The patient was given Trientine. Unfortunately she worsened on later examinations.
Assuntos
Encefalopatias/tratamento farmacológico , Encéfalo/patologia , Quelantes/uso terapêutico , Hemossiderose/tratamento farmacológico , Trientina/uso terapêutico , Encefalopatias/líquido cefalorraquidiano , Encefalopatias/diagnóstico , Eritrócitos/patologia , Feminino , Hemossiderose/líquido cefalorraquidiano , Hemossiderose/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-IdadeAssuntos
Antibacterianos/uso terapêutico , Hidrocortisona/análogos & derivados , Meningite Asséptica/etiologia , Idoso , Feminino , Humanos , Hidrocortisona/administração & dosagem , Hidrocortisona/efeitos adversos , Hidrocortisona/uso terapêutico , Meningite Asséptica/tratamento farmacológico , Ciática/tratamento farmacológico , Fatores de TempoRESUMO
Clomipramine, chronically administered in mice, for 3 days, inhibits partially but significantly morphine analgesia in the hot plate test, when used at dose of 10 mg/kg/day, i.p.; 2.5 and 5 mg/kg/day were ineffective. Neither higher doses (20 and 40 mg/kg/day) nor longer duration of pretreatment (8 and 16 days) modified the intensity of this inhibition. Reduction in morphine analgesia was obtained after a 24h delay between the last injection of clomipramine and that of morphine (30 min before testing), while clomipramine did not induce any antinociceptive effect and clomipramine and desmethylclomipramine plasma and brain levels were low or undetectable. These results provide new evidence for the interaction between clomipramine and the endogenous opiate system. A pharmacokinetic interaction between clomipramine and morphine was excluded; involvement of change in opiate and 5 HT2 receptors by chronic administration of clomipramine is discussed.
Assuntos
Analgesia , Clomipramina/farmacologia , Morfina/antagonistas & inibidores , Animais , Encéfalo/metabolismo , Clomipramina/administração & dosagem , Clomipramina/análogos & derivados , Clomipramina/sangue , Clomipramina/metabolismo , Temperatura Alta , CamundongosRESUMO
Cluster headache and manic depressive illness share in common similarities like: periodic symptomatology, accessibility to lithium therapy, abnormalities in circadian rhythm of cortisol. Though, in contrast to periodic depression, D.S.T. was found normal in 9 patients with cluster headache.
Assuntos
Cefaleia Histamínica/diagnóstico , Dexametasona , Cefaleias Vasculares/diagnóstico , HumanosRESUMO
The last four cranial nerves are fed by the ascending pharyngeal artery, a branch of the external carotid artery. The fact that paralysis of these nerves may occur immediately after arteriography of the external carotid artery demonstrates that ischaemic truncular neuropathies do exist. The deficit is sudden and usually regressive. Ischaemia may account for regressive paralysis of these nerves reported in diabetes, herpes zoster and after some traumas. Apparently idiopathic and benign paralysis might be due to the same mechanism. All 4 nerves may be affected, or only the IXth, Xth and XIth nerves, or the XIth nerve may be spared, being fed by two arteries. Apart from the obvious case of arteriographic accident, the diagnosis of paralysis of ischaemic origin can only be made after other causes, notably compression, have been excluded, since direct evidence of arterial obstruction is exceptionally obtainable; regression at follow-up is a major argument in favour of ischaemia.