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2.
Rev Neurol (Paris) ; 171(11): 773-81, 2015 Nov.
Artículo en Francés | MEDLINE | ID: mdl-26648345

RESUMEN

INTRODUCTION: Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology. Neurologic manifestations are found in 5 to 10% of cases. PATIENTS AND METHODS: We conducted a retrospective study over 6-year period including 18 patients diagnosed with neurosarcoidosis in the Neurologic department of the Military Hospital of Instruction of Tunis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS: The mean age was 43.44 years. Neurologic signs were the first symptom in 10 cases. Peripheral nervous system impairment was often found. Meningitis was noted in 8 cases. Biological tests are not contributive for the diagnosis. The brain magnetic resonance imaging was pathologic in 10 cases. Corticosteroids were administrated in the majority of cases. Eight patients did not show any sign of improvement. Ten cases improved with treatment. DISCUSSION AND CONCLUSION: Diagnosis of neurosarcoidosis is difficult because of its clinical and radiological polymorphism. It is based on a clinical history suggestive of neurosarcoidosis, laboratory, imaging and histological studies.


Asunto(s)
Enfermedades del Sistema Nervioso Central/patología , Enfermedades del Sistema Nervioso Central/psicología , Sarcoidosis/patología , Sarcoidosis/psicología , Corticoesteroides/uso terapéutico , Adulto , Edad de Inicio , Encéfalo/patología , Líquido del Lavado Bronquioalveolar/citología , Enfermedades del Sistema Nervioso Central/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso Periférico/etiología , Enfermedades del Sistema Nervioso Periférico/patología , Estudios Retrospectivos , Sarcoidosis/complicaciones , Resultado del Tratamiento
3.
Pathol Biol (Paris) ; 60(3): 185-9, 2012 Jun.
Artículo en Francés | MEDLINE | ID: mdl-21658861

RESUMEN

AIM OF THE STUDY: Platelet-activating factor interacts with its specific receptor and mediates leucocytes transmigration into central nervous system and expression of HLA molecules on antigens-presenting cells. These features are the major characteristics of multiple sclerosis pathology. In the present study, we investigated the role of platelet-activating factor receptor A224 mutation in the susceptibility to relapsing-remitting form of MS in a Tunisian population. PATIENTS AND METHODS: Forty-seven multiple sclerosis patients and 72 healthy controls were genotyped for platelet-activating factor receptor A224D mutation using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: We used three models of inheritance: the codominant, dominant and recessive models. Our results showed a predisposing effect of platelet-activating factor receptor 224D variant on susceptibility to relapsing-remitting multiple sclerosis (30% vs 48.1%, OR [IC 95%]=2.04 [1.04-3.99], P=0.023). Our results were also consistent with a dominant model of inheritance when comparing mild genotype (AA) with carriers of one or two copies of mutant allele (AD+DD) (55.7% vs 31.9%, OR [IC 95%]=2.92 [1.34-6.81], P=0.006). No effect of this mutation was shown when considering the age at disease onset, disease severity or gender. CONCLUSION: This first study reports an implication of platelet-activating factor receptor A224D mutation in the susceptibility to relapsing-remitting multiple sclerosis in Tunisian population. Further studies will be necessary to confirm the dominant role of PAFR A224D mutation and to elucidate the effect of this mutation on platelet-activating factor/platelet-activating factor receptor pathways.


Asunto(s)
Esclerosis Múltiple Recurrente-Remitente/genética , Mutación Missense , Glicoproteínas de Membrana Plaquetaria/genética , Receptores Acoplados a Proteínas G/genética , Adulto , Alanina/genética , Sustitución de Aminoácidos/genética , Ácido Aspártico/genética , Progresión de la Enfermedad , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genética de Población , Humanos , Masculino , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Esclerosis Múltiple Recurrente-Remitente/epidemiología , Mutación Missense/fisiología , Índice de Severidad de la Enfermedad , Túnez/epidemiología , Adulto Joven
4.
Rev Neurol (Paris) ; 167(2): 141-9, 2011 Feb.
Artículo en Francés | MEDLINE | ID: mdl-20728912

RESUMEN

PURPOSE: The aim of the present study is to provide a clinical and etiological analysis of cerebral venous thrombosis (CVT) in the Tunisian population. METHODS: This is a prospective monocentric study including 26 patients referred to the Neurology Department of the Military Hospital of Tunis between January 2005 and January 2008. The diagnosis of CVT was confirmed in all patients by magnetic resonance imaging (MRI) and angiography. The clinical and biological risk factors of cerebral venous thrombosis were analyzed. The average follow-up was 18 months (range six to 30). The outcome was assessed clinically with the modified Rankin scale and with MRI. RESULTS: Mean age was 38.26 years, predominantly females (sex-ratio 4.2). The clinical onset was acute in 88.46% of the cases. Headache was the most common inaugural sign (84.6%). Lateral and superior longitudinal sinuses were the most commonly involved with equal frequency (61.53%). Parenchymal lesions were frequently noted (77%), especially hemorrhagic infarcts (46.15%). The causes of CVT were variable and usually combined (85%). Specifically, thrombophilia and obstetric-gynecological causes were predominant with a prevalence of 61.5 and 42.3%, respectively. Septic causes (38.46%) are also frequent, mainly oral infections (27%). Outcome was favorable in 77% of patients given heparin therapy, followed by oral anticoagulants and antibiotics as needed. CONCLUSION: Our Tunisian population presented distinct clinical features compared with previous studies, including a high frequency of thrombophilia and gyneco-obstetrical disorders as well as infectious causes.


Asunto(s)
Trombosis Intracraneal/etiología , Trombosis de la Vena/etiología , Adolescente , Adulto , Anciano , Anticoagulantes/uso terapéutico , Angiografía Cerebral , Infarto Cerebral/etiología , Femenino , Humanos , Trombosis Intracraneal/tratamiento farmacológico , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Trombofilia/complicaciones , Resultado del Tratamiento , Túnez , Trombosis de la Vena/tratamiento farmacológico , Adulto Joven
5.
J Clin Neurosci ; 17(10): 1311-3, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20637631

RESUMEN

Chemokines and their receptors are known to mediate inflammation and tissue damage in autoimmune disorders such as multiple sclerosis (MS). Multiple sclerosis is an inflammatory disease of the central nervous system, characterized by myelin damage and neurological complications. Monocyte chemoattractant protein-1 (MCP-1) interacts with the C-C chemokine receptor 2 (CCR2) and plays a role in the migration of leukocytes into the central nervous system, thus contributing to the T cell-mediated pathogenesis of MS. Genomic DNA obtained from 58 MS patients and 72 healthy controls was tested for the MCP-1 -2518 A>G and CCR2 Val64Ile polymorphisms using polymerase chain reaction-restriction fragment length polymorphism analysis. Neither the MCP-1 -2518G (p=0.43) nor the CCR2 64Ile (p=0.52) variant contributed to the risk of MS in Tunisians.


Asunto(s)
Quimiocina CCL2/genética , Isoleucina/genética , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple/genética , Receptores CCR2/genética , Valina/genética , Adolescente , Adulto , Niño , Intervalos de Confianza , Femenino , Frecuencia de los Genes , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/líquido cefalorraquídeo , Oportunidad Relativa , Túnez/epidemiología , Adulto Joven
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