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1.
J Pediatr Gastroenterol Nutr ; 37(5): 604-8, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14581805

RESUMO

BACKGROUND: Celiac disease is a multifactorial disorder of the proximal small intestine associated with a permanent intolerance to gluten. The HLA-DQ(alpha1*0501, beta1*02) heterodimer is strongly associated with this disease. MATERIALS AND METHODS: The authors studied a sample of 354 unrelated Caucasoid individuals: 118 patients with celiac disease and 236 control subjects. All patients and controls subjects were born in Gran Canaria (Canary Islands) at least two generations ago. The authors typed the HLA-DQA1 and DQB1 genes by DNA methods. The positive and negative predictive values of the test were studied. RESULTS: The mean age at diagnosis was 25.4 months, with a statistically significant proportion of females (64.4%, P < 0.002). For DQB1 gene, the susceptibility allele found was DQB1*02 (relative risk [RR] = 7.60, confidence interval [CI]: 5.35-10.78), whereas for the DQA1 gene, the susceptibility alleles found were DQA1*0501 (RR = 2.99, CI: 2.16-4.14) and DQA1*0201 (RR = 1.88, CI: 1.25-2.82). The presence of the DQ(alpha1*0501, beta1*02) heterodimer was strongly associated with the disease (92.4% in the patients group vs. 21.6% in control subjects). HLA-DQ8 heterodimer was absent in the authors' patients. DQB1*02 homozygous subjects presented a higher relative risk for celiac disease. There was no correlation of DQB1*02 dosage with age at onset below 12 years of age or with gender distribution. Sensitivity, specificity, and the positive and negative predictive values of the test were 92.4%, 78.4%, 68.1%, and 95.4%, respectively. CONCLUSIONS: The presence of the DQ2 (DQA1*0501/DQB1*02) heterodimer is strongly associated with celiac disease in the population studied by the authors. The value of this test derives from its ability to exclude disease when a negative result occurs.


Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/genética , Predisposição Genética para Doença , Antígenos HLA-DQ/genética , Alelos , Criança , Pré-Escolar , Dimerização , Feminino , Dosagem de Genes , Genótipo , Cadeias alfa de HLA-DQ , Cadeias beta de HLA-DQ , Humanos , Lactente , Masculino , Sensibilidade e Especificidade , Espanha
3.
Rev Neurol ; 35(8): 705-10, 2002.
Artigo em Espanhol | MEDLINE | ID: mdl-12402219

RESUMO

AIMS: The objective of this study is to analyse the incidence and clinical characteristics of Guillain Barre syndrome (GBS) in the Canary Islands. PATIENTS AND METHODS: We conducted a retrospective study of GBS patients (according to diagnostic criteria from the National Institute of Neurological and Communicative Disorders and Stroke) treated in the Ntra. Sra. del Pino Hospital in Gran Canaria between 1983 and 1998. Annual incidence, seasonal distribution, preceding infection, clinical and electrophysiological data, and evolution were all evaluated. Prognostic factors were studied by means of a univariate analysis. RESULTS: A total of 81 patients were selected for the study. The raw incidence was 1.04/100,000 inhab./year (CI 95%: 0.83 1.29; adjusted for age to the European population: 1.5). The rates of incidence were higher in men and increased lineally with age in both sexes. We observed an upward tendency during the winter months. 48% of the patients displayed serious motor deficits in the nadir of the disease, and 17.8% required assisted ventilation. After one year s evolution 74% were seen to experience an excellent recovery. The mortality rate was 8.2% and 37% received immunomodulatory treatment. The main variables associated with a bad prognosis at 3 and 12 months were: serious deficits in muscular balance, the need for assisted ventilation and very reduced amplitude of evoked motor potential. CONCLUSIONS: GBS incidence in the Canary Islands is similar to that found in other countries. An increase with age and an upward tendency during the winter months was observed. No differences were found in the clinical data as compared with other series.


Assuntos
Síndrome de Guillain-Barré/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Antivirais/sangue , Ilhas Atlânticas/epidemiologia , Criança , Pré-Escolar , Feminino , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/metabolismo , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Paralisia/etiologia , Complicações Pós-Operatórias/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Prognóstico , Respiração Artificial , Paralisia Respiratória/etiologia , Paralisia Respiratória/terapia , Estudos Retrospectivos , Estações do Ano , Índice de Gravidade de Doença , Viroses/complicações
5.
Rev. neurol. (Ed. impr.) ; 35(8): 705-710, 16 oct., 2002.
Artigo em Es | IBECS | ID: ibc-22377

RESUMO

Objetivo. Analizar la incidencia y características clínicas del síndrome de Guillain-Barré (SGB) en Canarias. Pacientes y métodos. Estudio retrospectivo de pacientes con SGB (criterios diagnósticos del National Institute of Neurological and Communicative Disorders and Stroke) atendidos en el H. Ntra. Sra. del Pino de Gran Canaria, entre 1983 y 1998. Se evaluaron la incidencia anual, distribución estacional, infección precedente, los datos clínicos y electrofisiológicos y la evolución. Se investigaron factores pronósticos mediante un análisis univariante. Resultados. Se seleccionaron 81 pacientes. La incidencia cruda fue 1,04/100.000 hab/año (IC 95 por ciento: 0,83-1,29) (ajustada por edad a la población europea: 1,5). Las tasas de incidencia fueron más altas en el hombre y aumentaban linealmente con la edad en ambos sexos. Observamos predilección por los meses de invierno. El 48 por ciento de los pacientes alcanzaron déficit motores graves en el nadir de la enfermedad, y un 17,8 por ciento precisó ventilación asistida. Al año de evolución, el 74 por ciento tuvo una excelente recuperación. La mortalidad fue del 8,2 por ciento. El 37 por ciento recibió tratamiento inmunomodulador. Las principales variables asociadas a mal pronóstico a los tres y 12 meses fueron: déficit graves en el balance muscular, necesidad de ventilación asistida y una amplitud muy reducida de potencial motor evocado. Conclusiones. La incidencia del SGB en Canarias es similar a la que se encontró en otros países. Observamos un aumento de la incidencia con la edad y predilección por los meses de invierno. No encontramos diferencias en los datos clínicos con otras series (AU)


Assuntos
Pessoa de Meia-Idade , Gravidez , Pré-Escolar , Criança , Adolescente , Adulto , Idoso de 80 Anos ou mais , Idoso , Masculino , Lactente , Feminino , Humanos , Espanha , Estações do Ano , Viroses , Incidência , Meningite por Listeria , Paralisia , Complicações Pós-Operatórias , Respiração Artificial , Estudos Retrospectivos , Prognóstico , Proteínas , Paralisia Respiratória , Complicações na Gravidez , Síndrome de Guillain-Barré , Anticorpos Antivirais , Ilhas Atlânticas , Diagnóstico Diferencial , Glucose , Índice de Gravidade de Doença
6.
J Hum Hypertens ; 14(12): 789-93, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11114694

RESUMO

Angiotensinogen (AGT) gene polymorphism has shown significant differences in the allelic frequencies between hypertensive and normotensive subjects. This allele frequency varies among ethnic groups. There are still some controversies related to the 235T-variant as a marker for essential hypertension. As part of an extensive case-control study carried out in a Spanish population, we selected the 237 subjects with a diagnosis of essential hypertension according to the established criteria. A group of 242 normotensives matched for age and gender was used as control. Smoking habits, a previous diabetes and hypertension medical history, body mass index (BMI) and blood pressure (BP) values were recorded. Glucose, plasma creatinine, lipid profile with Lp(a), homocysteine and microalbuminuria were measured. Angiotensinogen M235T-gene polymorphism was determined by polymerase chain reaction (PCR) from genomic DNA. A(-6)G polymorphism was determined by mutagenically separated PCR (MS-PCR). BP values, BMI and microalbuminuria were significantly higher in hypertensive subjects; 31.6% of hypertensives and 40.1% normotensives were active smokers. M235T-genotype frequencies were not different in the hypertensive and normotensive population. Similarly, homocigotic AA predominate in the hypertensives but without statistical significance. The association of 235T-genotype or the changes in the promoter activity due to A(-6) substitution with essential hypertension was not confirmed in the multivariate regression analyses. Only a previous family history of hypertension and BMI were significantly associated with hypertension. Journal of Human Hypertension (2000) 14, 789-793


Assuntos
Angiotensinogênio/genética , Pressão Sanguínea , Polimorfismo Genético , Idoso , Alelos , Feminino , Homocisteína/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
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