ABSTRACT
PURPOSE: Infantile spasms (ISs) are age-dependant epileptic seizures, which may be flexor, extensor, lightning or nods, or mixed. The aim of this study was the analysis of genetic factors within the human leukocyte antigen (HLA) complex associated with ISs. METHODS: Sixty-five patients diagnosed according to the established international criteria were compared with 229 healthy individuals; all of them were Mexican Mestizos. Five families were also analyzed (seven affected and five healthy sibs); HLA class I and class II antigens were typed using the standard microlymphocytotoxicity methods. RESULTS: The findings showed female gender preference (2:1). Two thirds were symptomatic, and prevalent seizures were of mixed type (67%). A strong association with HLA-DR17 was detected in the IS group (pc < 0.01; OR = 3.6; EF = 0.20). DR17 was also found increased in the symptomatic patients (p = 0.009; OR = 3.16) and in those with other types of seizures (p = 0.001; OR = 2.0). Conversely, HLA-DQ6 was significantly decreased (pc < 0.002; PF = 0.37) in the total and in the symptomatic groups (p < 0.01). Haplotype linkage was not confirmed in the families; however, those with more than one affected sib shared at least one haplotype. CONCLUSIONS: These findings suggest the contribution of DR locus to the susceptibility and the participation of DQ region in the resistance to IS. Severity seems also to be influenced by HLA-DR17, and therefore class II typing may be a helpful tool for disease prognosis.
Subject(s)
Ethnicity/genetics , Genes, MHC Class II/genetics , Spasms, Infantile/genetics , Adult , Age of Onset , Comorbidity , Family , Female , Genes, MHC Class I/genetics , Genetic Linkage , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , HLA-DR Serological Subtypes , Haplotypes , Humans , Infant , Male , Mexico/epidemiology , Pedigree , Prognosis , Rural Population , Sex Factors , Spasms, Infantile/diagnosis , Spasms, Infantile/epidemiologyABSTRACT
El hídrops fetal temprano es un fenómeno frecuente que forma parte de numerosos procesos patológicos. Sin embargo, la tasa de diagnósticos se encuentra por debajo de su incidencia. Los hallazgos ecográficos indirectos relacionados con fallo cardíaco de diferente origen son más frecuentes en el primer trimestre. Es estos casos, el aumento del pliegue nucal suele ser el primer signo ecográfico de hídrops temprano. En el estudio realizado sobre 30 casos en los que se determinó el cariotipo fetal por un pliegue nucal mayor de 3 mm antes de la semana 14 de gestación como indicación, el índice de cromosomopatías fue del 36,7 frente al 3,1 por ciento de cariotipos anormales obtenidos cuando la indicación fue otra. Además, se observó un 50 por ciento de anomalías asociadas entre los que presentaron algún signo temprano de hídrops y un 47 por ciento de mortalidad fetal asociada. La medición del pliegue nucal ofrece la oportunidad de realizar un cribado temprano de aneuploidías, cardiopatías u otras afecciones fetales (AU)
Subject(s)
Female , Male , Humans , Hydrops Fetalis/diagnosis , Clinical Protocols , Biopsy/methods , Abdomen/pathology , Abdomen , XYY Karyotype/diagnosis , Fetal Mortality , Chromosome Aberrations/diagnosis , Gestational Age , Risk Factors , Genetic Markers/physiology , Chromosome Aberrations/physiopathologyABSTRACT
The etiology of Bell's palsy (BP) is still unknown, but infectious, immunological and genetic factors have been suggested to play a role in the pathogenesis of the disease. We analyzed blood samples of 92 Mexican Mestizo patients diagnosed as having BP according to established international criteria, and the results were compared to a group of apparently healthy controls of the same ethnic origin. HLA class I (A, B, C) and Class II (DR, DQ) products of the major histocompatibility complex (MHC), and the percentages of CD3, CD4 and CD8 T-cell subsets were investigated. The number of family antecedents was surprisingly high (46%), supporting a genetic basis. There was a slight increase of DRw13, suggesting a possible susceptibility class II-linked gene. A significant decrease of DR4 (pc = 0.001) was detected, which may indicate the existence of a resistance DR-linked gene. Thus, a non DR4 carrier may be in high risk of expressing BP. In the acute phase of the disease, the T-cell subsets showed a decrease in CD3 and CD4 cells when compared to controls. CD8 cells were increased in the same stage. A transient T-cell imbalance was thus observed which recovered in the convalescent phase. None of the patients with CD4 lower than 40% were DR4, suggesting that the DR-linked resistance gene may predispose to the T-cell defect.
