RESUMO
BACKGROUND: Narcolepsy-cataplexy is characterized by excessive daytime sleepiness with recurrent episodes of irresistible sleep, cataplexy, hallucinations and sleep paralysis. Its aetiology is unknown, but it is positively associated with the human leukocyte antigens (HLA) in all studied populations. The purpose of the present study was to investigate the association of HLA class II DRB1/DQB1 alleles with narcolepsy-cataplexy in Mexican Mestizo patients. METHODS: This is a case-control study of consecutive patients and ethnically matched controls. We included 32 patients diagnosed with typical narcolepsy-cataplexy, of the National Institute of Neurology, of the Institute of Psychiatry and at the Center of Narcolepsy at Stanford University. As healthy controls, 203 Mexican Mestizos were included. DRB1 alleles were identified using sequence based typing. A PCR-SSOP reverse dot blot was used for DQB1 typing. Allele frequency was calculated by direct counting and the significance of the differences was assessed using the Yates Chi square. Odds ratio and confidence intervals were evaluated. RESULTS: HLA-DRB1*1501 (OR = 8.2; pc < 0.0001) and DQB1*0602 (OR = 8.4; pc < 0.0001) were found positively associated with narcolepsy. When deleting DQB1*0602+ patients from the analysis, DQB1*0301 was also found increased (OR = 2.7; p = 0.035; pc = NS). DQB1*0602/DQB1*0301 genotype was present in 15.6% of the cases (OR = 11.5; p = 0.00035), conferring a high risk. DRB1*0407 (OR = 0.2; p = 0.016 pc = NS) and DQB1*0302(OR = 0.4; p = 0.017, pc = NS) were found decreased in the patients. The gender stratification analysis showed a higher risk in females carrying DRB1*1501 (OR = 15.8, pc < 0.0001) and DQB1*0602 (OR = 19.8, pc < 0.0001) than in males (OR = 5.0 for both alleles; p = 0.012, pc = NS for DRB1 & p = 0.0012, pc = 0.017 for DQB1). The susceptibility alleles found in Mexicans with narcolepsy are also present in Japanese and Caucasians; DRB1*04 linked protection has also been shown in Koreans. A stronger HLA association is suggested in females, in accordance with the sexual dimorphism claimed previously. CONCLUSION: This knowledge may contribute to a better understanding of the disease pathogenesis in different populations. The evaluation of the risk to develop narcolepsy-cataplexy in carriers of the described alleles/genotypes may also be possible. A larger sample should be analysed in Mexican and in other Hispanic patients to confirm these results.
Assuntos
Cataplexia/genética , Predisposição Genética para Doença , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Glicoproteínas de Membrana/genética , Narcolepsia/genética , Alelos , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Cadeias beta de HLA-DQ , Cadeias HLA-DRB1 , Teste de Histocompatibilidade , Humanos , Masculino , México , Fatores SexuaisRESUMO
El insomnio mas que una enfermedad es un sintoma que puede ser desencadenado por multiples razones que van desde la mala higiene y aspectos psicologicos hasta ser el resultado de enfermedades potencialmente peligrosas para la vida, como el sindrome de apnea del dormir. En este trabajo se presentan diversos aspectos del insomnio incluyendo epidemiologia, etiopatogenia, clinica y tratamiento
Assuntos
Humanos , Masculino , Feminino , Distúrbios do Início e da Manutenção do Sono/fisiopatologia , Sono/fisiologia , Transtornos do Sono-Vigília/complicaçõesRESUMO
Edvard Munch (1863-1944) está considerado como el pintor más importante de Noruega. Su obra refleja frecuentemente los diversos acontecimentos de su vida y la servió como mecanismo de defensa para superar los diversos conflictos intrapsíquicos que padeció. Su indisputable calidad técnica y temática tomaron un nuevo giro trs el brote psicótico que lo mantuvo hospitalizado en 1908, alrededor de 8 meses. Sin embargo no por ello disminuyó su productividad ni su excelencia