RESUMO
BACKGROUND AND PURPOSE: Endothelial nitric oxide synthase (eNOS) gene polymorphisms were associated with reduced NO production, and were evaluated as risk factors for ischemic stroke (IS). We investigated the association between eNOS gene -786T>C (promoter), 27-bp repeat 4b/4a (intron 4), and Glu298Asp (exon 7) polymorphisms with IS in 329 IS patients and 444 controls. MATERIALS AND METHODS: Glu298Asp and -786T>C genotyping was done by PCR-RFLP, 4b/4a was assessed by PCR-ASA. The contribution of eNOS polymorphisms to IS was analyzed by haplotype and multivariate regression analysis. RESULTS: Higher frequency of 298Asp allele was seen in IS patients (P = 1.2 x 10(-10)), which remained independently associated with IS on multivariate analysis after controlling for traditional cerebrovascular risk factors. Allele and genotype distribution of 4b/4a and -786T>C polymorphisms were comparable between patient and controls. Significantly higher prevalence of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes were seen in IS cases, thus conferring a disease susceptibility nature to these haplotypes. Multivariate regression analysis confirmed the association of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes, and in addition identified 298Asp/4a/-786T haplotype to be independently associated with IS, after controlling for traditional cerebrovascular risk factors. CONCLUSIONS: Genetic variation at the eNOS locus represent genetic risk factor for increased susceptibility to IS.
Assuntos
Isquemia Encefálica/genética , Predisposição Genética para Doença , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Acidente Vascular Cerebral/genética , Isquemia Encefálica/sangue , Estudos de Casos e Controles , Éxons , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Mutação Puntual , Regiões Promotoras Genéticas , Sequências Repetitivas de Ácido Nucleico , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/sangueRESUMO
OBJECTIVE: The association of renin C-4063T and angiotensinogen (AGT) T174M, AGT M235T and AGT A-6G polymorphisms with ischemic stroke of atherosclerotic etiology was investigated in 329 Tunisian patients with stroke and 444 controls. MATERIALS AND METHODS: Genotyping was performed using PCR-RFLP and the contributions of polymorphisms to the risk of stroke were analyzed using haplotype and multivariate regression analysis. RESULTS: AGT 235T and AGT-6G allele and AGT 235T/T, AGT-6A/G and AGT-6G/G genotype frequencies were higher in patients. Linkage disequilibrium (LD) was noted for AGT174T with AGT235M and AGT(-6)A in patients, while AGT235M was in LD with AGT(-6)A in controls and AGT235T was in LD with AGT(-6)G in both groups. The AGT 174T/235T/-6A and AGT 174T/235M/-6G haplotypes were positively and negatively associated with stroke respectively. Multivariate regression analysis identified AGT 174T/235M/-6A, AGT 174T/235T/-6G, AGT 174T/235T/-6A and AGT 174M/235T/-6A haplotypes to be significantly associated with an increased risk of stroke. CONCLUSIONS: Renin-angiotensin-aldosterone system polymorphisms influence the risk of atherosclerotic stroke in Tunisians.
Assuntos
Angiotensinogênio/genética , Predisposição Genética para Doença , Arteriosclerose Intracraniana/genética , Renina/genética , Acidente Vascular Cerebral/genética , Feminino , Genótipo , Haplótipos , Humanos , Arteriosclerose Intracraniana/complicações , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Sistema Renina-Angiotensina/genética , Fatores de Risco , Acidente Vascular Cerebral/etiologia , TunísiaAssuntos
Inibidores da Enzima Conversora de Angiotensina , Angiotensina II/farmacocinética , Inibidores da Enzima Conversora de Angiotensina/administração & dosagem , Inibidores da Enzima Conversora de Angiotensina/classificação , Inibidores da Enzima Conversora de Angiotensina/farmacocinética , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Relação Dose-Resposta a Droga , Hemodinâmica/efeitos dos fármacos , Humanos , Receptores de Angiotensina/efeitos dos fármacos , Sistema Renina-Angiotensina/efeitos dos fármacosRESUMO
Tuberculous peritonitis in the chronic peritoneal dialysis patient carries a high mortality, which may reflect the diagnostic delay that is often encountered in these cases. Accordingly, a high index of suspicion and an aggressive diagnostic approach (which may include laparoscopic biopsy) should be applied to the patient with persistent culture negative peritonitis. One of the first continuous ambulatory peritoneal dialysis (CAPD) cases involving tuberculous peritonitis successfully treated without interruption of dialysis or removal of the peritoneal dialysis catheter is reported. The literature is reviewed to provide diagnostic and therapeutic guidelines in dealing with this serious infection.
Assuntos
Antituberculosos/uso terapêutico , Diálise Peritoneal Ambulatorial Contínua/efeitos adversos , Peritonite Tuberculosa/tratamento farmacológico , Cateteres de Demora , Humanos , Masculino , Pessoa de Meia-Idade , Peritonite Tuberculosa/diagnóstico , Peritonite Tuberculosa/etiologiaRESUMO
Pseudotumor cerebri is a syndrome characterized by intracranial hypertension (intracranial pressure >200 mmH2O) and a normal ventricular system. The diagnosis should be made as early as possible to prevent impairment of vision. Several diseases have been reported in association with pseudotumor cerebri in pediatric patients, and have been occasionally also noted with chronic renal failure, heart and renal transplantation. We report a 7-year-old boy who complained of severe headaches and visual impairment 2 years after hemodialysis for renal hypoplasia. Pseudotumor cerebri was suspected and, despite treatment with corticosteroids, acetazolamide, and lumboperitoneal diversion, visual impairment worsened. Bilateral optic nerve sheath decompression (ONSD) was performed without success and the child completely lost his vision within 2 weeks. He was successfully transplanted 2 months later. Two years post transplantation, the blind child has a normal renal function and school performance. Pseudotumor cerebri must be rapidly suspected in a child with renal failure suffering from headaches and papilledema. Visual loss may progress rapidly and ONSD seems to be the best surgical treatment when medical treatment fails. In this patient renal transplantation was well tolerated, with no deterioration in the neurological status over 2 years of follow-up.