RESUMO
PURPOSE: We aimed in this study to investigate the association between the ATP-Binding Cassette sub-family B, member1 (ABCB1) polymorphisms: C1236T (rs1128503), G2677T (rs2032582) and C3435T (rs1045642), and the resistance to antiepileptic drugs (AEDs). MATERIALS AND METHODS: The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism genotyping of ABCB1 polymorphisms was conducted on 153 Tunisian epileptic patients treated with AEDs. RESULTS: Two genetic polymorphisms of the ABCB1 gene seemed to influence the response to AEDs. In fact, the G2677T T and the C3435T T alleles appeared to increase the risk of developing AEDs resistance (ORs* = 3.13; 95%CI = [1.16-8.98]; p = 0.024 and ORs* = 3.10; 95%CI = [1.15-8.37]; p = 0.025), respectively. However, the C1236T T allele did not seemed to influence the response to AEDs (ORs* = 1.14; 95%CI = [0.53-3.88]; p = 0.471). Haplotypic analysis indicated high-degree linkage disequilibrium of ABCB1 polymorphisms. Our results showed a synergic effect, in fact patients with the CTT and TTT haplotypes were more likely to be drug resistant than patients with the CGC haplotype, these associations remained significant even after adjustment for confounding parameters (ORs* = 2.68; 95%CI = [1.11-8.25]; p = 0.033 and ORs* = 3.76; 95%CI = [1.69-21.05]; p = 0.006, respectively). CONCLUSION: The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. Genetic predisposition, involved in this resistance, may contribute to the establishment of a personal optimized therapy for newly diagnosed epileptic patients.
Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/genética , Farmacogenética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Epilepsia/epidemiologia , Feminino , Frequência do Gene , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Tunísia/epidemiologia , Adulto JovemAssuntos
Acidente Vascular Cerebral , Idoso , Emergências , Feminino , Acessibilidade aos Serviços de Saúde , Humanos , Masculino , Estudos Prospectivos , População Rural , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Fatores de Tempo , Transporte de Pacientes/estatística & dados numéricos , Tunísia/epidemiologia , População UrbanaRESUMO
Meningeal carcinomatosis is an uncommon metastatic complication of systemic solid tumors. The diagnosis is based on the presence of malignant cells in the cerebrospinal fluid. The sensibility of cerebrospinal fluid testing in detecting the neoplastic cells improves when repeating lumbar punctures. Magnetic resonance imaging could help in establishing the diagnosis. The prognosis of carcinomatous meningitis is poor, especially when the primitive neoplasm is initially unknown. We report the case of a patient presenting with sudden bilateral visual decrease, headaches, and vomiting. Signs of meningeal irritation were found. Cerebrospinal fluid analysis showed malignant cells consistent with an adenocarcinoma. Abdominal echography and MRI concluded in a nodule of the cephalic portion of the pancreas. Carcinomatous meningitis rarely complicates pancreatic cancers.
RESUMO
Spinal tumors are rare; intramedullary tumors are uncommon among these lesions, and occur in only 10% of cases in adults. Ependymoma is the most frequent histological type (40-60%). We report the case of a 22-year-old girl, presenting with local back pain, ascendant paresthesia, a progressive flask paraparesis, and a vesical globe. The clinical examination concluded in a mild motor weakness with areflexia of both patellar and Achilles tendons. The diagnosis of intramedullary tumor was made on MRI. The radiological and the macroscopic aspects evoked an ependymoma; the diagnosis was histologically confirmed after surgery (myxopapillary ependymoma) with a favorable evolution.
RESUMO
We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susac's syndrome.
Assuntos
Artéria Cerebral Anterior , Arteriopatias Oclusivas , Perda Auditiva Neurossensorial , Oclusão da Artéria Retiniana , Adulto , Arteriopatias Oclusivas/diagnóstico , Arteriopatias Oclusivas/tratamento farmacológico , Cegueira , Tontura , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Humanos , Paresia , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/tratamento farmacológico , SíndromeRESUMO
We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susacs syndrome.
