RESUMO
The new allelic variant HLA-B*38:55Q differs from the closest related B*38:01:01 by one nucleotide substitution at position 373 in exon 3 (TGC>CGC). This results in a difference of one amino acid at residue 101 of the HLA-B heavy chain, from a neutral-polar Cys to a basic-polar Arg, thus impairing disulphide bridge formation in the alpha-2 domain. This alteration of the secondary structure probably affects the maturation of the heavy chain and the level of surface expression, making the HLA-B*38:55Q undetectable by standard serological typing.
Assuntos
Alelos , Substituição de Aminoácidos/genética , Regulação da Expressão Gênica , Antígenos HLA-B/genética , Sequência de Aminoácidos/genética , Éxons , Antígenos HLA-B/biossíntese , Humanos , Dados de Sequência Molecular , Estrutura Secundária de Proteína , Alinhamento de Sequência , População BrancaRESUMO
We report the case of a patient diagnosed as having cluster-tic syndrome as the initial manifestation of multiple sclerosis (MS). The patient's headache bouts improved after treatment with antiepileptic drugs, steroids, and beta-interferon. Magnetic resonance imaging (MRI) scans showed a pontine demyelinating lesion involving the area of the trigeminal root inlet and main sensory nucleus. Neurophysiological studies correlated well with MRI lesions. The association between cluster-tic syndrome and MS is an exception, and the mechanism of the pain is still unknown; therefore, this case might suggest a pathophysiological relationship between the trigeminal main sensory nucleus and cluster-tic syndrome.
Assuntos
Esclerose Múltipla/complicações , Transtornos de Tique/complicações , Adulto , Piscadela/fisiologia , Cerebelo/patologia , Estimulação Elétrica , Lateralidade Funcional , Humanos , Imageamento por Ressonância Magnética , Masculino , Esclerose Múltipla/diagnóstico , Ponte/patologia , Tempo de Reação , Reflexo/fisiologia , Núcleos do Trigêmeo/patologiaRESUMO
INTRODUCTION: Headache services arise out of a need to improve care for patients with different types of headache; however, some important aspects of clinical management that demonstrate their efficiency remain unknown. AIM: To estimate the need for headache services in our area. PATIENTS AND METHODS: We conducted a retrospective study in two phases: identification of the first visits due to headache during three consecutive months and collection of care data during one year. The care criteria in headache services considered were: chronic migraine, rare headaches, need for special techniques and headaches with poor therapeutic response. RESULTS: Of the 1,418 first visits, in 298 cases (20.38%) the reason for seeking medical attention was headache. Of these, 82.9% were from primary care. The distribution of the diagnoses was: 54%, migraine; 11%, tension-type headache; and 35%, other headaches. Altogether 108 patients met the criteria for referral to headache services: 63 for chronic migraine; 13 for nerve blocks; 9 for frequent migraine; 8 for trigeminal-autonomic cephalgias; 5 due to a need for botulinum toxin; and 10 for other reasons. The patients attended by headache services went to the emergency department less often than those who visited the general outpatient department, had fewer brain scans and more botulinum toxin was indicated. CONCLUSION: Headache services are justified because they offer better management of patients with the most severe variants of headache. In our country, at least two visits a week are needed to cover an area of 350,000 users of the Spanish National Health System.
TITLE: Necesidad real y consumo de recursos en las unidades de cefalea: estudio observacional retrospectivo sobre una cohorte en Cantabria.Introduccion. Las unidades de cefalea surgen por una necesidad de mejorar la asistencia a los pacientes con cefalea; no obstante, se desconocen aspectos importantes de gestion clinica que demuestren su eficiencia. Objetivo. Estimar la necesidad de unidades de cefalea en nuestro medio. Pacientes y metodos. Estudio retrospectivo realizado en dos fases: identificacion de las primeras consultas por cefalea durante tres meses consecutivos y recogida de datos asistenciales ocurridos durante un año. Criterios de asistencia en unidades de cefalea: migraña cronica, cefaleas raras, necesidad de tecnicas especiales y cefaleas con mala respuesta terapeutica. Resultados. De las 1.418 primeras consultas, en 298 (20,38%) la cefalea fue el motivo asistencial. El 82,9% procedia de atencion primaria. La distribucion de diagnosticos fue: 54% migraña, 11% cefalea tensional y 35% otras cefaleas. Un total de 108 pacientes cumplia los criterios de derivacion a unidades de cefalea: 63 por migraña cronica, 13 por bloqueos nerviosos, 9 por migraña frecuente, 8 por cefaleas trigeminoautonomicas, 5 por necesidad de toxina botulinica y 10 por otros motivos. Los pacientes atendidos por unidades de cefalea acudieron menos veces a urgencias que los de consulta general, se les realizaron menos tomografias cerebrales y se les indico mas toxina botulinica. Conclusion. Las unidades de cefalea estan justificadas por gestionar mejor los pacientes con las variantes mas graves de cefalea. En nuestro medio se justifican al menos dos consultas semanales para atender un area de 350.000 usuarios del Sistema Nacional de Salud.