RESUMEN
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a North American kindred with FHM without associated ataxia or epilepsy. Functional analysis of the mutation, introduced in the highly homologous human SCN5A, revealed markedly slowed inactivation and a two-fold faster recovery from fast inactivation predicting enhanced neuronal excitation. Our findings establish the role of neuronal Na(v)1.1 sodium channels in FHM and reinforce the involvement of ion channel dysfunction in the pathogenesis of this episodic brain disorder.
Asunto(s)
Epilepsia/genética , Trastornos Migrañosos/genética , Mutación , Proteínas del Tejido Nervioso/genética , Canales de Sodio/genética , Células Cultivadas , Tamización de Portadores Genéticos , Humanos , Mutagénesis , Canal de Sodio Activado por Voltaje NAV1.1 , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: The validity of self-reported negative emotion to predict health status is limited by response biases, introspection limitations, and methodological confounds. The reports of significant others about the patients' negative emotion may circumvent these limitations. This study sought to compare the validity of self- versus other-reported negative emotion as a correlate of migraine headache activity. METHODS: On 89 patients with migraine headache (74 women and 15 men), we correlated self-ratings and significant-other-ratings of patients' negative emotion with patients' report of migraine frequency and severity, which were assessed both cross-sectionally and prospectively, 3 months later. RESULTS: Other-reported negative emotion correlated with migraine activity better than did self-reported negative emotion, both cross-sectionally and prospectively. Patterns were different for women and men, however. Among women, other-reported negative emotion was positively associated with migraine activity. Among men, other-reported negative emotion was inversely associated with migraine frequency and severity. CONCLUSION: The results suggest that it may be valuable to obtain significant-other-ratings when assessing negative emotion in patients and that the genders may differ in how others' ratings are related to the patients' health.
Asunto(s)
Ansiedad/psicología , Depresión/psicología , Trastornos Migrañosos/psicología , Determinación de la Personalidad , Inventario de Personalidad , Trastornos Somatomorfos/psicología , Adolescente , Adulto , Anciano , Ansiedad/complicaciones , Ansiedad/diagnóstico , Estudios Transversales , Depresión/complicaciones , Depresión/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Recurrencia , Factores de Riesgo , Factores Sexuales , Estadística como AsuntoRESUMEN
METHODS: The effect on plasma total carbon dioxide (ctCO2) of collecting a small volume of blood into a large tube was investigated. In a 7-month-old infant presenting with diarrhoea the initial ctCO2 was low when 0.3 mL of sample was received in a 4-mL tube. To investigate this further blood samples were obtained from three volunteers on five occasions and various volumes were placed in a 4 mL container and analysed after varying intervals. RESULTS: When the sample volume was less than 2 mL there was a significant decrease in ctCO2. A 42% decrease was seen in the tube containing 0.3 mL after 4 h. CONCLUSIONS: We recommend that when a small volume of sample is collected it should be placed in a smaller tube with minimal air space.