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1.
Blood Cancer J ; 10(7): 75, 2020 07 16.
Artículo en Inglés | MEDLINE | ID: mdl-32678078

RESUMEN

The purpose of this study was to conduct a two-stage case control association study including 654 acute myeloid leukaemia (AML) patients and 3477 controls ascertained through the NuCLEAR consortium to evaluate the effect of 27 immune-related single nucleotide polymorphisms (SNPs) on AML risk. In a pooled analysis of cohort studies, we found that carriers of the IL13rs1295686A/A genotype had an increased risk of AML (PCorr = 0.0144) whereas carriers of the VEGFArs25648T allele had a decreased risk of developing the disease (PCorr = 0.00086). In addition, we found an association of the IL8rs2227307 SNP with a decreased risk of developing AML that remained marginally significant after multiple testing (PCorr = 0.072). Functional experiments suggested that the effect of the IL13rs1295686 SNP on AML risk might be explained by its role in regulating IL1Ra secretion that modulates AML blast proliferation. Likewise, the protective effect of the IL8rs2227307 SNP might be mediated by TLR2-mediated immune responses that affect AML blast viability, proliferation and chemorresistance. Despite the potential interest of these results, additional functional studies are still warranted to unravel the mechanisms by which these variants modulate the risk of AML. These findings suggested that IL13, VEGFA and IL8 SNPs play a role in modulating AML risk.


Asunto(s)
Susceptibilidad a Enfermedades , Variación Genética , Inmunidad/genética , Leucemia Mieloide Aguda/etiología , Adulto , Anciano , Alelos , Biomarcadores de Tumor , Susceptibilidad a Enfermedades/inmunología , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Inmunomodulación/genética , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/patología , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Medición de Riesgo , Factores de Riesgo , Esteroides/metabolismo
2.
Acta pediatr. esp ; 78(3/4): e1-e7, mar.-abr. 2020. tab, graf
Artículo en Español | IBECS | ID: ibc-202523

RESUMEN

INTRODUCCIÓN: La hiperleucocitosis y la hipertensión pulmonar son factores de riesgo de mortalidad en niños con tosferina maligna. Las opciones terapéuticas disponibles para estos casos graves no se encuentran bien establecidas. Población y métodos: Se diseñó un estudio ambispectivo que incluía a niños diagnosticados de tosferina ingresados en una Unidad de Cuidados Intensivos Pediátricos (UCIP) de un hospital de tercer nivel en España entre enero de 2007 y octubre de 2015. Se compararon variables clínicas y demográficas entre el grupo de niños que sobrevivieron (grupo de supervivientes [GS]) y los que finalmente fallecieron (grupo exitus [EG]). RESULTADOS: Se identificaron un total de 31 pacientes. La mortalidad global fue del 19% (6/31 pacientes). Cinco niños fueron diagnosticados de hipertensión pulmonar. Cinco de seis niños que finalmente fallecieron precisaron canulación en oxigenación por membrana extracorpórea (ECMO). Ocho pacientes recibieron terapia mediante exanguinotransfusión (ET). La mediana de leucocitos antes de la realización de ET fue mayor (81.300 cél./μL) en EG que en GS (57.400 cél./μL), p= 0,05. Los pacientes que fallecieron tuvieron un mayor recuento pico de leucocitos totales, linfocitos, neutrófilos y niveles de proteína C reactiva (PCR) que los niños que sobrevivieron. Las variables que se identificaron como factores de riesgo de mortalidad fueron: una frecuencia cardiaca mayor de 170 lpm (OR 18; IC del 95%: 1,7-192,0), la presencia de neumonía (OR 16,5; IC del 95%: 1,7-165) y la presencia de hipertensión pulmonar (OR 179,6 [6,4-5.027]). CONCLUSIÓN: El uso de variables sencillas como la frecuencia cardiaca, el recuento total de leucocitos o los valores de PCR pueden servir para identificar de forma precoz a pacientes con riesgo de hipertensión pulmonar y tosferina maligna, de forma que procedimientos invasivos como la ET puedan utilizarse de una forma más precoz


BACKGROUND: Hyperleukocytosis and pulmonary hypertension are risk factors for death in infants with severe pertussis. Treatment options in severe pertussis are not well-established. METHODS: We designed an ambispective study of children with pertussis admitted to the pediatric intensive care unit (PICU) of a tertiary level hospital in Spain from January 2007 to October 2015. Clinical and demographical variables were compared between the group of children who survived (survivors group or SG) and those children who died (exitus group or EG). RESULTS: Thirty-one children were identified. Overall mortality rate was 19% (6/31 patients). Five children had pulmonary hypertension. Five out of 6 infants who eventually died had been placed on ECMO. Eight infants needed exchange transfusion (ET). Median leukocyte count immediately before exchange transfusion was higher (81300 cél./μL) in EG than in SG (57400 cél./μL), p= 0.05. Children who died had higher peak values in white blood cell counts (WBC), lymphocyte count, neutrophil counts and PCR levels than children who survived. The following variables were associated with risk of death: a heart rate above 170 bpm (OR 18, CI 95%: 1.7-192,0), the presence of pneumonia (OR 16.5, CI 95%: 1.7-165) and pulmonary hypertension (OR 179,6 [6,4-5027]. CONCLUSION: Early identification of patients at risk for pulmonary hypertension and fatal pertussis using heart rate, WBC and PCR levels would be appropriate so that invasive procedures such as exchange transfusion could be carried out precociously


Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Tos Ferina/mortalidad , Tos Ferina/complicaciones , Hipertensión Pulmonar/complicaciones , Leucocitosis/complicaciones , Tos Ferina/sangre , Tos Ferina/diagnóstico , Tos Ferina/terapia , Factores de Riesgo , Reacción en Cadena de la Polimerasa , Análisis de Supervivencia , Estudios Prospectivos , Estudios Retrospectivos , Unidades de Cuidados Intensivos
3.
Infect Immun ; 88(4)2020 03 23.
Artículo en Inglés | MEDLINE | ID: mdl-31964743

RESUMEN

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of the most interesting markers of IA risk was then validated in a replication population, including 474 subjects (94 IA and 380 non-IA patients). Functional experiments were also performed to confirm the biological relevance of the most interesting markers. The meta-analysis of both populations showed that carriers of the ARNT2rs1374213G, CX3CR1rs7631529A, and CX3CR1rs9823718G alleles (where the RefSeq identifier appears as a subscript) had a significantly increased risk of developing IA according to a log-additive model (P value from the meta-analysis [PMeta] = 9.8 · 10-5, PMeta = 1.5 · 10-4, and PMeta =7.9 · 10-5, respectively). Haplotype analysis also confirmed the association of the CX3CR1 haplotype with AG CGG with an increased risk of IA (P = 4.0 · 10-4). Mechanistically, we observed that monocyte-derived macrophages (MDM) from subjects carrying the ARNTR2rs1374213G allele or the GG genotype showed a significantly impaired fungicidal activity but that MDM from carriers of the ARNT2rs1374213G and CX3CR1rs9823718G or CX3CR1rs7631529A alleles had deregulated immune responses to Aspergillus conidia. These results, together with those from expression quantitative trait locus (eQTL) data browsers showing a strong correlation of the CX3CR1rs9823718G allele with lower levels of CX3CR1 mRNA in whole peripheral blood (P = 2.46 · 10-7) and primary monocytes (P = 4.31 · 10-7), highlight the role of the ARNT2 and CX3CR1 loci in modulating and predicting IA risk and provide new insights into the host immune mechanisms involved in IA development.


Asunto(s)
Translocador Nuclear del Receptor de Aril Hidrocarburo/genética , Aspergillus/inmunología , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Receptor 1 de Quimiocinas CX3C/genética , Predisposición Genética a la Enfermedad , Aspergilosis Pulmonar Invasiva/genética , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Genotipo , Enfermedades Hematológicas/complicaciones , Humanos , Medición de Riesgo
4.
Infect Immun ; 84(3): 643-57, 2015 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-26667837

RESUMEN

Recent studies suggest that immune-modulating single-nucleotide polymorphisms (SNPs) influence the risk of developing cancer-related infections. Here, we evaluated whether 36 SNPs within 14 immune-related genes are associated with the risk of invasive aspergillosis (IA) and whether genotyping of these variants might improve disease risk prediction. We conducted a case-control association study of 781 immunocompromised patients, 149 of whom were diagnosed with IA. Association analysis showed that the IL4Rrs2107356 and IL8rs2227307 SNPs (using dbSNP numbering) were associated with an increased risk of IA (IL4Rrs2107356 odds ratio [OR], 1.92; 95% confidence interval [CI], 1.20 to 3.09; IL8rs2227307 OR, 1.73; 95% CI, 1.06 to 2.81), whereas the IL12Brs3212227 and IFNγrs2069705 variants were significantly associated with a decreased risk of developing the infection (IL12Brs3212227 OR, 0.60; 95% CI, 0.38 to 0.96; IFNγrs2069705 OR, 0.63; 95% CI, 0.41 to 0.97). An allogeneic hematopoietic stem cell transplantation (allo-HSCT)-stratified analysis revealed that the effect observed for the IL4Rrs2107356 and IFNγrs2069705 SNPs was stronger in allo-HSCT (IL4Rrs2107356 OR, 5.63; 95% CI, 1.20 to 3.09; IFNγrs2069705 OR, 0.24; 95% CI, 0.10 to 0.59) than in non-HSCT patients, suggesting that the presence of these SNPs renders patients more vulnerable to infection, especially under severe and prolonged immunosuppressive conditions. Importantly, in vitro studies revealed that carriers of the IFNγrs2069705C allele showed a significantly increased macrophage-mediated neutralization of fungal conidia (P = 0.0003) and, under stimulation conditions, produced higher levels of gamma interferon (IFNγ) mRNA (P = 0.049) and IFNγ and tumor necrosis factor alpha (TNF-α) cytokines (P value for 96 h of treatment with lipopolysaccharide [PLPS-96 h], 0.057; P value for 96 h of treatment with phytohemagglutinin [PPHA-96 h], 0.036; PLPS+PHA-96 h = 0.030; PPHA-72 h = 0.045; PLPS+PHA-72 h = 0.018; PLPS-96 h = 0.058; PLPS+PHA-96 h = 0.0058). Finally, we also observed that the addition of SNPs significantly associated with IA to a model including clinical variables led to a substantial improvement in the discriminatory ability to predict disease (area under the concentration-time curve [AUC] of 0.659 versus AUC of 0.564; P-2 log likehood ratio test = 5.2 · 10(-4) and P50.000 permutation test = 9.34 · 10(-5)). These findings suggest that the IFNγrs2069705 SNP influences the risk of IA and that predictive models built with IFNγ, IL8, IL12p70, and VEGFA variants can used to predict disease risk and to implement risk-adapted prophylaxis or diagnostic strategies.


Asunto(s)
Aspergilosis/genética , Aspergilosis/inmunología , Predisposición Genética a la Enfermedad , Interferón gamma/genética , Subunidad p40 de la Interleucina-12/genética , Subunidad alfa del Receptor de Interleucina-4/genética , Interleucina-8/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Alelos , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Huésped Inmunocomprometido/genética , Interferón gamma/inmunología , Subunidad p40 de la Interleucina-12/inmunología , Subunidad alfa del Receptor de Interleucina-4/inmunología , Interleucina-8/inmunología , Masculino , Persona de Mediana Edad
5.
SD, Rev. med. int. Síndr. Down (Ed. castell.) ; 17(1): 3-7, ene.-abr. 2013. ilus
Artículo en Español | IBECS | ID: ibc-115472

RESUMEN

Antecedentes: Los individuos con síndrome de Down (SD) presentan niveles elevados de ácido úrico (AU). Objetivo: Evaluar la variación producida con la práctica de ejercicio físico en los niveles urinarios de AU en individuos con SD. Material y métodos: Se ha analizado a 29 individuos con SD de ambos sexos y edades de 4 a 52 años. Se analizaron 37 individuos sanos, sin trisomía 21 de ambos sexos y edades de 5-72 años (controles). Se utilizó el método de Duncan et al para determinar el AU. La creatinina (Cr) se determinó por el método de Jaffé, modificado por Varley y Gowenlock. Resultados: Los valores de AU urinario referenciados a Cr son significativamente mayores (p < 0,01) en individuos con SD que en controles (315 ± 123 mmol/mmol frente a 244 ± 83 mmol/mmol), y no varían significativamente ni con el sexo, ni con la edad. Sin embargo, tanto en el grupo control, como en el de SD aparece una correlación negativa entre el ratio AU/Cr y la edad hasta los 20 años, que se hace positiva a partir de esta edad. Nuestros resultados muestran una correlación más acentuada en personas con SD. El AU disminuye un 19% en SD y un 6,4% en controles cuando el deporte pasa de practicarse ocasionalmente a diariamente. Conclusiones: El AU urinario está aumentado en individuos con SD. El AU urinario no varía significativamente con el sexo. La práctica diaria de ejercicio físico con intensidad moderada reduce la excreción urinaria de AU en el SD (AU)


Background: Down’s syndrome (DS) individuals have elevated uric acid (UA) urinary levels. Objective: To evaluate urinary UA levels variation with physical exercise practice in DS individuals. Material and methods: We analysed 29 individuals with DS and 37 individuals without DS (control group) matched by age and sex. Urinary UA levels were determined by Duncan method. Creatinine (Cr) was assessed according to the spectrophotometric Jaffé method. Results: We reported that individuals with DS have significant elevated urinary UA levels compared to controls (315 ± 123 mmol/mmol vs 245 ± 84 mmol/mmol), and we did not observed any significant variation with respect to sex or age. However, up to 20 years a negative correlation between ratio UA/Cr and age was obtained. This correlation was positive starting from 20 years. According to our results this correlation is more accentuated in DS individuals. Urinary UA levels decrease 19.0% in DS individuals and 6.4% in controls when sport is practiced more than occasionally to daily. Conclusions: Urinary UA is increased in DS individuals. Urinary UA does not vary significantly according to sex. The daily practice of physical exercise of moderate intensity reduces the urinary excretion of UA in DS individuals (AU)


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Ácido Úrico , Ácido Úrico/aislamiento & purificación , Ácido Úrico/orina , Ejercicio Físico/fisiología , Síndrome de Down/complicaciones , Síndrome de Down/diagnóstico , Síndrome de Down/psicología , Síndrome de Down/fisiopatología , Trastornos Urinarios/complicaciones , Trastornos Urinarios/diagnóstico , Citogenética/métodos , Citogenética/organización & administración , Citogenética/normas , Análisis Citogenético
6.
Int J Immunopathol Pharmacol ; 23(2): 423-36, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20646338

RESUMEN

Tumour necrosis factor (TNF) is primarily secreted by monocytes/macrophages and activated T lymphocytes in response to fungal infections. TNF acts through TNF receptor 1 (TNFR1) triggering a pro-inflammatory response, and therefore plays a pivotal role in immune regulation and host immune responses. We hypothesized that single nucleotide polymorphisms (SNPs) in TNFR1 gene may influence the innate immune response against Aspergillus. Three SNPs were genotyped in 275 individuals (144 immunocompromised haematological patients with high-risk of developing IPA and 131 healthy controls): TNFR1(-383(A/C)) (rs2234649) and TNFR1(-609(G/T)) (rs4149570) in the 5 prime UTR region, and TNFR1(+36(A/G)) SNP (rs767455) in the first exon of the gene. Of the 144 haematological patients, 77 patients developed Invasive Pulmonary Aspergillosis (IPA) infection and the remaining 67 patients were not infected. TNFR1(+36(A/G)) and TNFR1(-609(G/T)) were associated with IPA susceptibility (p=0.033 and p=0.018, respectively). A role of TNFR1 genetic variants in the susceptibility of patients to develop IPA was also supported by the significantly lower TNFR1 mRNA expression level in IPA than in IPA-resistant patients and the strong correlation between the TNFR1(-609) genetic variant and the expression levels of TNFR1. There was also a tendency for a higher frequency of galactomannan (GM) positivity in patients with TNFR1(-609G/G) genotype than in patients with TNFR1(-609G/T) (p=0.0909) or TNFR1(-609T/T) (p=0.0913) genotype. Predictive sequence analysis of the effects of TNFR1(-609) promoter polymorphism revealed that this SNP might play a critical role in modifying the affinity of ICSBP/IRF-8, a transcription factor that is involved in the TNFR1-mediated activation of NFkappaB signalling pathway. Taken together, these data suggest that TNFR1 polymorphisms influence the risk of IPA disease and might be useful for risk stratification strategies. These findings need to be confirmed in validation studies with larger samples of haematological patients.


Asunto(s)
Aspergilosis/genética , Predisposición Genética a la Enfermedad , Enfermedades Pulmonares Fúngicas/genética , Polimorfismo de Nucleótido Simple , ARN Mensajero/análisis , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Aspergilosis/etiología , Biomarcadores , Femenino , Galactosa/análogos & derivados , Humanos , Factores Reguladores del Interferón/metabolismo , Enfermedades Pulmonares Fúngicas/etiología , Masculino , Mananos/análisis
7.
Cytokine ; 41(3): 268-78, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18191407

RESUMEN

Several lines of evidence indicate that IL6 plays a major role in the pathogenesis of a number of infectious diseases. The purpose of this study was to determine whether IL6 promoter polymorphisms were genetic markers of susceptibility to invasive pulmonary aspergillosis (IPA). To clarify the relationship between IL6 variants and IPA susceptibility, the IL6-174(G/C) and IL6-634(G/C) promoter single nucleotide polymorphisms (SNPs) were defined and plasma concentrations of IL6 and C-reactive protein (CRP) were measured. The study included 130 patients with haematological malignancies and 145 unrelated healthy individuals. No significant genotypic and allelic differences were found between patients and healthy controls. IPA was diagnosed in 71 of 130 patients according to the consensus criteria. CRP values were significantly associated with both IL6-174(G/C) and IL6-634(G/C) polymorphisms. However, IL6 and CRP values were similar between IPA and non-IPA groups. Neither IL6-174(G/C) nor IL6-634(G/C) polymorphisms were associated with IPA infection (p=0.414 and p=0.184, respectively). No evidence of association was found between allelic frequencies of IL6 promoter polymorphisms and IPA infection (p=0.864 and p=0.104, respectively). Further, no association was detected between IL6 genotypes and clinical profiles in IPA patients. Haplotype analysis also revealed that IL6 gene was not associated with IPA susceptibility in a Spanish population (Global haplotype association p value: 0.31). These findings suggest that IL6 polymorphisms influence on CRP circulating levels but are not associated with IPA susceptibility. Because the sample size is relatively small in our series, larger investigations of IL6-174(G/C)/IL6-634(G/C) genotypes and haplotypes are needed to clarify the potential role of this gene in the pathophysiology of IPA infection.


Asunto(s)
Aspergilosis/genética , Proteína C-Reactiva/análisis , Predisposición Genética a la Enfermedad , Interleucina-6/genética , Enfermedades Pulmonares Fúngicas/genética , Polimorfismo de Nucleótido Simple , Femenino , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Regiones Promotoras Genéticas
8.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 39(3): 166-173, mayo 2004. ilus, tab
Artículo en Es | IBECS | ID: ibc-33041

RESUMEN

Introducción: desde que se utilizan los tratamientos balnearios, siempre ha habido la duda sobre el tiempo mínimo necesario para que dicho tratamiento fuera eficaz y efectivo. Forma parte de la tradición balnearia realizar la llamada "la novena", que se corresponde con la duración mínima de 9 días continuados de tratamiento y estancia balnearia para conseguir los efectos beneficiosos de la cura balnearia, hechos que han sido observados durante años. Objetivo: estudiar y evaluar el tiempo mínimo de tratamiento cenoterápico con aguas bicarbonatadas sulfatadas necesario para obtener una disminución estadísticamente significativa de la eliminación de sustancias reactivas al ácido tiobarbitúrico (TBARS) en una población balnearia mayor de 65 años. Pacientes y método: estudio clínico prospectivo realizado en el balneario de aguas bicarbonatadas sulfatadas de Jaraba-Sicilia (Zaragoza) en 3 estaciones climatológicas diferentes del mismo año, con 120 voluntarios del Programa de Termalismo Social del IMSERSO, 60 varones y 60 mujeres (edad media 70,9 ñ 0,5 años); no había diferencias estadísticamente significativas entre la edad de ambos grupos, homogéneos en su conjunto y de muestras pareadas dependientes e igual tamaño. Se obtuvieron muestras de orina para determinar la concentración de TBARS mediante espectrofotometría a la llegada al balneario, a los 9 y a los 14 días de tratamiento; se les realizó una historia clínica completa y se valoraron diferentes variables médicas tras aplicar crenoterapia por vía tópica (baños de 37,5-39 0 C durante 15 min) y/o hidropínica. Las muestras urinarias se analizaron siguiendo una modificación de la técnica descrita en 1978 por Mihara et al. Resultados: la producción urinaria de peroxidación lipídica (TBARS) en orina, principalmente malondialdehído, fue, a la llegada, de 0,368 ñ 0,0095 nM/ml, a los 9 días de tratamiento de 0,352 ñ 0,0088 nM/ml y al finalizar el mismo, tras 14 días de crenoterapia, de 0,337 ñ 0,0083 nM/ml; el beneficio poscrenoterápico obtenido en su estado oxidativo (efecto crenoterápico terapéutico) fue de -0,016 ñ 0,0019 (4,35 por ciento) a los 9 días, el cual se duplicó a los 14 días, con cifras de -0,031 ñ 0,0017 (8,4 por ciento). Esta disminución de los valores de oxidación obtenidos presentó diferencias estadísticamente significativas (p < 0,001) en toda la población estudiada. Conclusión: a partir del noveno día de tratamiento con aguas bicarbonatadas sulfatadas hay evidencias de que el efecto crenoterápico antioxidante comienza a ser eficaz y estadísticamente significativo en la población estudiada, lo que coincide con la mejoría física obtenida. Este efecto crenoterápico se potencia al doble si se prolonga el tratamiento hasta 14 días (AU)


Asunto(s)
Anciano , Femenino , Masculino , Humanos , Bicarbonatos/análisis , Antioxidantes/uso terapéutico , Antioxidantes/administración & dosificación , Aguas Termales , 24961 , Peróxidos Lipídicos/aislamiento & purificación , Peróxidos Lipídicos/análisis , Peróxidos Lipídicos/uso terapéutico , Estudios Prospectivos , Peroxidación de Lípido/fisiología , Malondialdehído/análisis
9.
Gerontology ; 47(4): 186-8, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11408722

RESUMEN

BACKGROUND: It seems very likely that oxidative mechanisms play a major role in aetiology and pathogenesis of senile cataract. In particular, lens proteins are subject to extensive oxidative modifications. OBJECTIVE: The purpose of this work was to analyze the activities of the protective enzymes superoxide dismutase (SOD) and catalase (CAT) in patients of both sexes affected by cataract. METHODS: The SOD activity was measured in red blood cells using the Minami and Yoshikawa method, and the CAT activity was measured in haemolysates by the method of Aebi. The results were compared with those obtained in a group of healthy subjects of both sexes and matched ages. RESULTS: The SOD activity shows a significant increase when compared with controls, whereas the CAT activity was not modified. CONCLUSIONS: The balance of the anti-oxidants in red blood cells from cataract patients is altered.


Asunto(s)
Catalasa/metabolismo , Catarata/sangre , Catarata/enzimología , Eritrocitos/enzimología , Superóxido Dismutasa/metabolismo , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Cristalino/enzimología , Masculino , Persona de Mediana Edad , Oxidación-Reducción
10.
Gac Med Mex ; 134(5): 539-44, 1998.
Artículo en Español | MEDLINE | ID: mdl-9842135

RESUMEN

UNLABELLED: Superoxide dismutase (SOD) and catalase (CAT) activities were measured in blood from 420 individuals: control population 126, males and females, age between 50 to 93 years of age without any relevant pathology. Pathological population: 294 patients, males and females, age between 50 to 93 years of age, with some disease in the cardiovascular system and in the osteoarticular system, myoma, prostatic pathologies, Chronic Obstructive Pulmonary Disease (EPOC), and Acute Cerebral Vascular Accident (ACVA). The method of Minami and Yoshikawa (SOD) and the method of Aebi (CAT) were judged the techniques of choice for a population study. STATISTICAL METHODS: ANOVA and Student's "t". 1) The results were that levels of activity for SOD and CAT were increased for women in control population, and 2) the level of activity for CAT decreases with aging. In the pathological population, we detected: 3) increased activity for SOD in cardiovascular diseases, myomas, EPOC and ACVA. 4) for CAT the level of activity decreases in cardiovascular and prostatic diseases, EPOC and ACVA. 5) while in osteoarticular diseases levels of activity for SOD and CAT were standard, but SOD level decreases with aging, for CAT in cardiovascular diseases and EPOC, too. Both enzymes work to balance the antioxidant system.


Asunto(s)
Anciano , Catalasa/sangre , Superóxido Dismutasa/sangre , Factores de Edad , Anciano de 80 o más Años , Enfermedades Óseas/enzimología , Enfermedades Cardiovasculares/enzimología , Trastornos Cerebrovasculares/enzimología , Interpretación Estadística de Datos , Femenino , Humanos , Artropatías/enzimología , Leiomioma/enzimología , Enfermedades Pulmonares Obstructivas/enzimología , Masculino , Persona de Mediana Edad , Enfermedades de la Próstata/enzimología , Factores Sexuales , Neoplasias Uterinas/enzimología
11.
Bratisl Lek Listy ; 98(3): 135-6, 1997 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-9226464

RESUMEN

We report on the results obtained in 6 Fanconi's anaemia families (FA) (parents, brothers and sisters) affected by at least one of the symptoms usually observed in FA. The 6 FA families were studied from 1974 to 1990, all having located in Madrid (Spain) but with different ethnic origin: 3 families are of Spanish descent and the other 3 are gipsy families. All showed characteristics of the disease, including malformations, stunted growth, microcephaly, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (SOD) activity. (Ref. 17.)


Asunto(s)
Anemia de Fanconi/genética , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/etnología , Femenino , Humanos , Masculino , Romaní , España
12.
Experientia ; 52(9): 871-3, 1996 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-8841514

RESUMEN

Down's syndrome (DS), the most frequent of congenital birth defects, results from the trisomy of chromosome 21 in all cells of affected patients. This disease is characterized by developmental anomalies, mental retardation and features of rapid aging, particularly in the brain, where the occurrence of Alzheimer's disease is observed in trisomy 21 patients over the age of 35. Copper-zinc superoxide dismutase (CuZnSOD) is one of the proteins encoded by chromosome 21 (21q22.1). As a consequence of gene dosage excess, CuZnSOD activity is increased by 50% in all DS tissues. This work reports the SOD activity of a population of DS patients with complete trisomy 21, partial trisomy 21, translocations and mosaicism, in order to confirm the gene dosage effect of SOD on the clinical features of DS, and to help to establish which is the critical region of chromosome 21 in DS. CuZnSOD was measured in red blood cells using the Minami and Yoshikawa method. In the population with complete trisomy 21, SOD activity was increased by 42%; in the population with partial trisomy 21, translocations and mosaicism, SOD activity was normal. In the population diagnosed as DS, but not karyotyped, SOD activity was increased by 28%. No differences between sexes or among ages were found. We conclude that the 21q22.1 segment is not the critical region responsible for DS, as we have found normal SOD activity in patients with the clinical features of DS.


Asunto(s)
Síndrome de Down/enzimología , Superóxido Dismutasa/sangre , Adolescente , Adulto , Aneuploidia , Niño , Preescolar , Cromosomas Humanos Par 21 , Dosificación de Gen , Humanos
13.
Panminerva Med ; 37(4): 175-7, 1995 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8710395

RESUMEN

Numerous findings have shown that enzyme deficiencies, especially those involved in the protection of red cells from oxidation may lead to hemolysis and hyperbilirubinemia. It is established that G6PD deficiency may be the cause of neonatal hyperbilirubinemia, as has been found in several countries and among widely different ethnic groups. We try to establish the incidence of G6PD, PK and GSSG-R deficiencies in neonates with jaundice for a better assessment of the population at risk. The present investigation was carried out in the attempt to be certain whether these enzymes could play a part in the development of neonatal jaundice. A total of 341 neonates of both sexes with jaundice were analyzed: 47 with G6PD deficiency; 9 with PK deficiency and 2 with GSSG-R deficiency.


Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Glutatión Reductasa/deficiencia , Ictericia Neonatal/enzimología , Piruvato Quinasa/deficiencia , Estudios de Casos y Controles , Femenino , Humanos , Recién Nacido , Ictericia Neonatal/etiología , Masculino
14.
Panminerva Med ; 37(3): 142-4, 1995 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-8869370

RESUMEN

Activities of superoxide dismutase, glutathione reductase, pyruvate kinase and glucose-6-phosphate dehydrogenase and level of fetal hemoglobin were determined in a family with Fanconi's anemia. Superoxide dismutase activity was significantly decreased, but glutathione reductase, pyruvate kinase and glucose-6-phosphate dehydrogenase activities were normal. The fetal hemoglobin levels observed were increased when compared with standard levels.


Asunto(s)
Anemia de Fanconi/metabolismo , Superóxido Dismutasa/metabolismo , Adulto , Femenino , Hemoglobina Fetal/análisis , Humanos , Masculino
15.
Comp Biochem Physiol B ; 99(3): 637-40, 1991.
Artículo en Inglés | MEDLINE | ID: mdl-1769211

RESUMEN

1. Blood samples obtained from 114 animals of three species of the genus Gazella (Gazella dama, Gazella dorcas and Gazella cuvieri) were analyzed from hematology (osmotic fragility, red blood cells morphology and hemoglobin electrophoresis) and biochemical values (glucose-6-phosphate dehydrogenase, pyruvate kinase and glutathione reductase deficiencies and superoxide dismutase activity). 2. Standard methods were used. Hemoglobin polymorphism was found. 3. There was no abnormality in the osmotic fragility and red blood cells morphology. 4. The biochemical results are compared with information from the literature and with the normal human range.


Asunto(s)
Antílopes/sangre , Animales , Antílopes/clasificación , Antílopes/genética , Femenino , Hemoglobinas/genética , Hemoglobinas/aislamiento & purificación , Masculino , Fragilidad Osmótica , Polimorfismo Genético , Especificidad de la Especie , Superóxido Dismutasa/sangre
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