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1.
Phys Chem Chem Phys ; 23(10): 5870-5877, 2021 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-33659971

RESUMEN

The interaction between nitrogen-doped graphene defects (N3V1 and N4V2 pyridinic, and N3V1 and N3V3 pyrrolic) and benzene have been investigated by applying density functional theory (DFT), together with the vdW-DF correction. We discovered that only the N3V3 pyrrolic defect is a reactive site (6π-component), forming a cycloadduct with benzene (4π-component) that has energy barriers below 154.38 kJ mol-1 (1.60 eV). The conduction and valence bands (HOMO and LUMO) for N3V3 form a degenerate pair of orbitals at the gamma point, with the same ionization potential (IP) and electron affinity (EA). Likewise, inspection of the orbital symmetries for both systems confirms that these must undergo concerted reactions based on the Woodward and Hoffmann principles of orbital symmetry, with the appropriate orbital occupancies. This is the first time that substitutionally doped graphene has been demonstrated to participate as a 6π-component for cycloaddition reactions with benzene.

2.
J Investig Allergol Clin Immunol ; 26(4): 249-55, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27373883

RESUMEN

BACKGROUND AND OBJECTIVE: Vitamin A has been linked to the development of allergic diseases although its role is not fully understood, Retinoic acid (RA), a metabolite of Vitamin A, has been previously associated with the prostaglandin pathway, and PTGDR, a receptor of PGD2, has been proposed as a candidate gene in allergy and asthma. Considering the role of PTGDR in allergy, the goal of this study was to analyze the effect of RA on the activation of the promoter region of the PTGDR gene. METHODS: A549 lung epithelial cells were transfected with 4 combinations of genetic variants of the PTGDR promoter and stimulated with all-trans RA (ATRA); luciferase assays were performed using the Dual Luciferase Reporter System, and real-time quantitative polymerase chain reaction was used to measure the expression of PTGDR, CYP26A1, RARA, RARB, RARG, and RXRA in basal A549 cell cultures and after ATRA treatment. We also performed an in silico analysis. RESULTS: After ATRA treatment increased expression of CYP26A1 (12-fold) and RARB (4-fold) was detected. ATRA activated PTGDR promoter activity in transfected cells (P<.001) and RA response element sequences were identified in silico in this promoter region. CONCLUSIONS: RA modulated PTGDR promoter activity. Differential response to RA and to new treatments based on PTGDR modulation could depend on genetic background in allergic asthmatic patients.


Asunto(s)
Regiones Promotoras Genéticas , Receptores Inmunológicos/genética , Receptores de Prostaglandina/genética , Tretinoina/farmacología , Región de Flanqueo 5' , Sitios de Unión , Línea Celular Tumoral , Humanos , Regiones Promotoras Genéticas/efectos de los fármacos
3.
Allergol Immunopathol (Madr) ; 44(1): 32-40, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-25982578

RESUMEN

BACKGROUND: Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3 gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. METHODS: A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. RESULTS: Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p=0.004, OR=16.2 [1.34-195.15]). CONCLUSIONS: In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells.


Asunto(s)
Enfermedades Autoinmunes/inmunología , Factores de Transcripción Forkhead/metabolismo , Hipersensibilidad/inmunología , Linfocitos T Reguladores/fisiología , Población Blanca , Adulto , Anciano , Animales , Análisis Mutacional de ADN , Femenino , Factores de Transcripción Forkhead/genética , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , España
4.
Allergol Immunopathol (Madr) ; 43(6): 601-8, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25433770

RESUMEN

Asthma is a complex disease determined by the interaction of different genes and environmental factors. The first genetic investigations in asthma were candidate gene association studies and linkage studies. In recent years research has focused on association studies that scan the entire genome without any prior conditioning hypothesis: the so-called genome-wide association studies (GWAS). The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1). None of these genes would have been selected in a classical genetic association study since it was not known they could be implicated in asthma. To date, a number of GWAS studies in asthma have been made, with the identification of about 1000 candidate genes. Coordination of the different research groups in international consortiums and the application of new technologies such as new generation sequencing will help discover new implicated genes and improve our understanding of the molecular mechanisms underlying the disease.


Asunto(s)
Asma/genética , Cromosomas Humanos Par 17/genética , Animales , Asma/diagnóstico , Biomarcadores/metabolismo , Proteínas del Huevo/genética , Epigénesis Genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Proteínas de la Membrana/genética , Mutación/genética , Proteínas de Neoplasias/genética
5.
Allergol Immunopathol (Madr) ; 42(6): 603-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24731768

RESUMEN

Asthma is a complex disease involving numerous mediator molecules and effector cells, in combination with a range of environmental determining factors. Cytokines play a key role in the physiopathological mechanisms of asthma; the study of the structure, regulation and variations of the genes that encode for these molecules is therefore crucial. Cytokines have extremely diverse roles, and exert effects both as activators and inhibitors of the innate and adaptive immune response. Certain modifications in the expression or structure of these molecules, resulting from the presence of polymorphisms, may give rise to deregulation of the mentioned effects, and therefore to a predisposition to develop concrete asthma phenotypes.


Asunto(s)
Asma/genética , Asma/inmunología , Citocinas/genética , Predisposición Genética a la Enfermedad , Animales , Humanos , Polimorfismo Genético
6.
Allergol Immunopathol (Madr) ; 42(1): 64-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-23410912

RESUMEN

The prostaglandin D2 receptor (PTGDR) gene has been associated to asthma and related phenotypes by linking and association studies. Functional studies involving animal models and other expression studies based on in vitro cell models also point to a possible role of polymorphisms in the promoter region, in the differential binding of transcription factors, and thus in PTGDR expression, which appear to be associated to the development of asthma or of susceptibility to the disease.


Asunto(s)
Asma/inmunología , Hipersensibilidad/inmunología , Receptores Inmunológicos/genética , Receptores de Prostaglandina/genética , Animales , Asma/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Hipersensibilidad/genética , Polimorfismo Genético
7.
J Investig Allergol Clin Immunol ; 22(5): 331-40, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23101307

RESUMEN

BACKGROUND AND OBJECTIVES: Nasal polyposis (NP) is a chronic inflammatory disease of the upper airways with a variable clinical course and unknown pathogenesis that often coexists with other conditions. Considering the possibility of genetic predisposition, we decided to analyze whether polymorphisms in LTC4S, CYSLTR1, PTGDR, and NOS2A were associated with NP. METHODS: The study population comprised 486 Caucasian individuals. Polyposis and aspirin intolerance were diagnosed following the recommendations of the European Position Paper on Rhinosinusitis and Nasal Polyps. Genotypes were determined using polymerase chain reaction amplification and direct sequencing. RESULTS: The -444A > C LTC4S polymorphism was significantly associated with NP and atopy (P = .033) and with NP and atopic asthma, (P =.012). In addition, a significant association was found when the (CCTTT) repetition of the NOS2A gene was present more than 14 times in patients with NP and asthma (P = .034), in patients with polyposis and intolerance to nonsteroidal anti-inflammatory drugs (P = .009), and in patients with the aspirin triad (P = .005). The PTGDR diplotype CCCT/CCCC (-613CC, -549CC, -441CC and -197TC) was more frequent in patients with NP (P = .043), NP with asthma (P = .013), and the aspirin triad (P = .041). CONCLUSIONS: NP was associated with specific polymorphisms only when it occurred with related phenotypes. Our results suggest that this genetic background plays a more relevant role in the development of the associated clinical features of nasal polyposis than in simple polyposis.


Asunto(s)
Estudios de Asociación Genética , Pólipos Nasales/genética , Alelos , Epistasis Genética , Genotipo , Haplotipos , Humanos , Óxido Nítrico Sintasa de Tipo II/genética , Polimorfismo Genético , Polimorfismo de Nucleótido Simple
8.
Allergol Immunopathol (Madr) ; 40(6): 385-9, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22770587

RESUMEN

Tryptase is one of the main proteases located in the secretory granules of the mast cells, and is released through degranulation. It is therefore assumed to play an important role in inflammatory and allergic processes. Four genes are known to encode for these enzymes, with different alleles that give rise to different types of tryptases. The term "tryptase" generally refers to ß-tryptase, which in vivo is a heterotetramer, possessing a structure of vital importance for enabling drug and substrate access to the active site of the molecule. Tryptase has been reported to possess antagonistic functions, since it plays an important role both in inflammatory phenomena and as a protector against infection. In allergic processes it is associated to bronchial hyperresponsiveness in asthmatic patients, where PAR-2 is of great importance as an airway receptor. Lastly, the genes that encode for tryptase are highly polymorphic and complex. As a result, it is important to establish a relationship between genotype and phenotype in disorders such as asthma, and to identify mutations that are presumably of pharmacological relevance.


Asunto(s)
Hipersensibilidad/enzimología , Mastocitos/inmunología , Triptasas/genética , Triptasas/metabolismo , Animales , Degranulación de la Célula , Predisposición Genética a la Enfermedad , Humanos , Hipersensibilidad/genética , Inmunidad Innata , Mediadores de Inflamación/metabolismo , Mutación/genética , Polimorfismo Genético , Receptor PAR-2/inmunología
9.
Chemosphere ; 269: 128748, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33139043

RESUMEN

Two new adsorbents, namely avocado-based hydrochar and LDH/bone-based biochar, were developed, characterized, and applied for adsorbing 2-nitrophenol. The pore volume and surface diffusion model (PVSDM) was numerically solved for different geometries and applied to interpret the adsorption decay curves. Both adsorbents presented interesting textural and physicochemical characteristics, which achieved maximum adsorption capacities of 761 mg/g for biochar and 562 mg/g for hydrochar. The adsorption equilibrium data were well fitted by Henry isotherm. Besides, thermodynamic investigation revealed endothermic adsorption with the occurrence of electrostatic interactions. PVSDM predicted the adsorption decay curves for different adsorbent geometries at different initial concentrations of 2-nitrophenol. The surface diffusion was the main intraparticle mass transport mechanism. Furthermore, the external mass transfer and surface diffusion coefficients increased with the increase of 2-nitrophenol concentration.


Asunto(s)
Contaminantes Químicos del Agua , Adsorción , Carbón Orgánico , Concentración de Iones de Hidrógeno , Cinética , Nitrofenoles , Soluciones , Termodinámica
10.
J Mol Model ; 24(9): 244, 2018 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-30128714

RESUMEN

An effectiveway of enhancing hydrogen storage on adsorbent materials can be induced by the hydrogen spill-over mechanism, although to date there is no general consensus which satisfactorily explains the mechanism. In this work, a possible reaction path to explain hydrogen adsorption is shown. Density-functional calculations were used to study the dissociation of molecular hydrogen near to a stressed region, as a consequence of chemisorbed hydrogen at the graphene-nitrogen surface. We found that as a result of the buckling induced by the chemisorbed hydrogen, the dissociation barrier of molecular hydrogen diminished by 0.84 eV. The chemisorbed hydrogen is the final state in the spill-over mechanism on a graphene-nitrogen decorated with palladium clusters. This effect helps to create hydrogen nanoislands that may change the diffusion and detrapping of H. An electronic structure analysis suggests that these systems occasionally present metallic or semiconductor behavior. Graphical Abstract Hydrogen dissociation and adsorption process via buckling defect.

11.
Nefrologia ; 23(3): 219-24, 2003.
Artículo en Español | MEDLINE | ID: mdl-12891936

RESUMEN

OBJECTIVE: To study the capacity of renal acidification in a group of children diagnosed of idiopathic hypercalciuria. PATIENT AND METHODS: 36 children were studied, to those that were determined the pCO2 (UpCO2) maximum urinary with two different stimuli, acetazolamide and sodium bicarbonate (NaHCO3). At 33 of them, was performed an acidification test with frusemide stimulus. We studied a control group of 13 healthy children so much for the first one as the second tests and other 14 healthy children for the acidification test with frusemide. RESULTS: In the tests performed with NaHCO3 and acetazolamide stimulus, they were not proven differences in the values of UpCO2 neither in the urinary concentration of HCO3- (UHCO3-) than control children. Nevertheless, the UpCO2 and the concentration of UHCO3- in the patients were significantly lower with acetazolamide with regard to the NaHCO3 stimulus. In the acidification test with frusemide, significantly lower values of titratable acid and ammonium were obtained than control children. CONCLUSIONS: In children with idiopathic hypercalciuria, the capacity of secretion of H+ is normal, what is evidenced, especially, when studying the maximum UpCO2 after stimulus with NaHCO3. When diuretics are used as stimuli, exists more negative results that can be due to a certain partial resistance to the action of the same ones or to that are less potent to induce the secretion of H+.


Asunto(s)
Trastornos del Metabolismo del Calcio/fisiopatología , Calcio/orina , Túbulos Renales/fisiopatología , Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/fisiopatología , Acidosis Tubular Renal/orina , Adolescente , Trastornos del Metabolismo del Calcio/orina , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Concentración de Iones de Hidrógeno , Masculino
12.
An Med Interna ; 14(3): 119-24, 1997 Mar.
Artículo en Español | MEDLINE | ID: mdl-9235079

RESUMEN

The ultrasonic diagnosis of salivary gland tumors can give a more accurate information than clinical data alone. For example, it will help differentiate intraglandular from extraglandular tumors and benign from malignant processes. We conducted a prospective study in 39 patients with parotidal or submaxillary tumors. Patients were evaluated with a physical exam and a with ultrasound. Results indicate that only 53.86% of the physical examinations were correct in their diagnosis compared to 87.18% of the those done by ultrasound. Specificity and sensibility for malignancy was 96.43% and 81.81% respectively. These results were similar to those reported by other authors. We conclude that the use of ultrasound techniques in the study of salivary gland pathology is well justified, due to its capacity to provide high resolution, improving clinical diagnosis.


Asunto(s)
Neoplasias de las Glándulas Salivales/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sensibilidad y Especificidad , Ultrasonografía
13.
Brain Res Bull ; 98: 64-75, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23886572

RESUMEN

A penetrating brain injury produces a glial scar formed by astrocytes, oligodendrocytes, microglia and NG2 cells. Glial scar is a barrier preventing the extent of damage but it has deleterious effects in the regeneration of the axons. Estradiol and tamoxifen reduce gliosis and have neuroprotective effects in the hippocampus and the spinal cord. We evaluated the proliferation of glia and the electrocorticogram in the sensorial cortex in a brain injury model. At seven days post-injury, estradiol, tamoxifen and estradiol plus tamoxifen reduced the number of resident and proliferative NG2 and reactive astrocyte vimentin+ cells. Estradiol and tamoxifen effects on NG2 cells could be produced by the classical oestrogen receptors found in these cells. The glial scar was also reduced by tamoxifen. At thirty days post-injury, the amount of resident and proliferative astrocytes increased significantly, except in the estradiol plus tamoxifen group, whilst the oligodendrocytes proliferation in the glial scar was reduced in treated animals. Tamoxifen promotes the survival of FOX-3+ neurons in the injured area and a recovery in the amplitude of electrocorticogram waves. At thirty days, estradiol did not favour the survival of neurons but produced a greater number of reactive astrocytes. In contrast, the number of oligodendrocytes was reduced. Tamoxifen could favour brain repair promoting neuron survival and adjusting glial cell number. It seems to recover adequate neural communication.


Asunto(s)
Traumatismos Penetrantes de la Cabeza/patología , Regeneración/efectos de los fármacos , Moduladores Selectivos de los Receptores de Estrógeno/uso terapéutico , Corteza Somatosensorial/efectos de los fármacos , Tamoxifeno/uso terapéutico , Animales , Antígenos/metabolismo , Astrocitos/efectos de los fármacos , Astrocitos/metabolismo , Ondas Encefálicas/efectos de los fármacos , Modelos Animales de Enfermedad , Traumatismos Penetrantes de la Cabeza/tratamiento farmacológico , Masculino , Proteínas del Tejido Nervioso/metabolismo , Neuronas/efectos de los fármacos , Neuronas/metabolismo , Proteoglicanos/metabolismo , Ratas , Ratas Wistar , Receptores de Estrógenos/metabolismo , Corteza Somatosensorial/fisiopatología , Factores de Tiempo
14.
J. investig. allergol. clin. immunol ; 26(4): 249-255, 2016. graf
Artículo en Inglés | IBECS (España) | ID: ibc-154937

RESUMEN

Background and Objective: Vitamin A has been linked to the development of allergic diseases although its role is not fully understood, Retinoic acid (RA), a metabolite of Vitamin A, has been previously associated with the prostaglandin pathway, and PTGDR, a receptor of PGD2, has been proposed as a candidate gene in allergy and asthma. Considering the role of PTGDR in allergy, the goal of this study was o analyze the effect of RA on the activation of the promoter region of the PTGDR gene. Methods: A549 lung epithelial cells were transfected with 4 combinations of genetic variants of the PTGDR promoter and stimulated with all-trans RA (ATRA); luciferase assays were performed using the Dual Luciferase Reporter System, and real-time quantitative polymerase chain reaction was used to measure the expression of PTGDR, CYP26A1, RARA, RARB, RARG , and RXRA in basal A549 cell cultures and after ATRA treatment. We also performed an in silico analysis. Results: After ATRA treatment increased expression of CYP26A1 (12-fold) and RARB (4-fold) was detected. ATRA activated PTGDR promoter activity in transfected cells (P<.001) and RA response element sequences were identified in silico in this promoter region. Conclusions: RA modulated PTGDR promoter activity. Differential response to RA and to new treatments based on PTGDR modulation could depend on genetic background in allergic asthmatic patients (AU)


Introducción y Objetivo: La vitamina A se ha relacionado con el desarrollo de las enfermedades alérgicas, si bien su papel no se comprende en su totalidad. El ácido retinoico, un metabolito de la vitamina A, se ha asociado previamente con la ruta de las prostaglandinas. Además, PTGDR, uno de los receptores de PGD2, se ha propuesto como un gen candidato en la alergia y el asma. Considerando el papel de PTGDR en la alergia, el objetivo de este estudio fue analizar el efecto del ácido retinoico sobre la activación de la región promotora del gen PTGDR. Métodos: Se utilizó la línea celular A549 de epitelio de pulmón. Las células fueron transfectadas con cuatro combinaciones de las variantes génicas de PTGDR y fueron estimuladas con ácido retinoico todo-trans (ATRA). Los ensayos de Luciferasa se llevaron a cabo mediante el sistema Dual Luciferase Reporter System. Se realizaron análisis de RT-qPCR para medir la expresión basal de PTGDR, CYP26A1, RARA, RARB, RARG y RXRA de los cultivos de A549 tras el tratamiento con ATRA. Se realizaron también análisis bioinformáticos. Resultados: Se encontraron diferencias significativas en la actividad promotora entre las variantes haplotípicas tras la transfección en la línea celular A549. Tras el tratamiento con ATRA se detectó un incremento de la expresión de CYP26A1 (12 veces) y RARB (4 veces). El ácido retinoico activó la actividad promotora de PTGDR en las células transfectadas (p<0,001). Se identificaron secuencias de Elementos de Respuesta a Ácido Retinoico (RARE) in silico en la región promotora de PTGDR. Conclusiones: El ácido retinoico modula la actividad promotora de PTGDR . Esto podría explicar las diferencias en los efectos del ácido retinoico y en las respuestas a los nuevos tratamientos de la enfermedad alérgica basados en la modulación del receptor PTGDR (AU)


Asunto(s)
Humanos , Masculino , Femenino , Receptores de Ácido Retinoico/análisis , Receptores de Ácido Retinoico/inmunología , Tretinoina/análisis , Tretinoina/inmunología , Vitamina A/análisis , Vitamina A/inmunología , Asma/epidemiología , Asma/inmunología , Luciferasas/análisis , Luciferasas/inmunología , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados/métodos
15.
Allergol. immunopatol ; 44(1): 32-40, ene.-feb. 2016. tab
Artículo en Inglés | IBECS (España) | ID: ibc-147481

RESUMEN

BACKGROUND: Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. METHODS: A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. RESULTS: Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p = 0.004, OR = 16.2 [1.34-195.15]). CONCLUSIONS: In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells


No disponible


Asunto(s)
Niño , Humanos , Factores de Transcripción Forkhead , Factores de Transcripción Forkhead/inmunología , Autoinmunidad/inmunología , Asma/inmunología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Desensibilización Inmunológica/métodos , Técnicas Inmunológicas/métodos , Polimorfismo Genético/inmunología , Estudios de Casos y Controles , Análisis Citogenético/métodos
16.
Allergol. immunopatol ; 43(6): 601-608, nov-dic. 2015. tab
Artículo en Inglés | IBECS (España) | ID: ibc-145507

RESUMEN

Asthma is a complex disease determined by the interaction of different genes and environmental factors. The first genetic investigations in asthma were candidate gene association studies and linkage studies. In recent years research has focused on association studies that scan the entire genome without any prior conditioning hypothesis: the so-called genome-wide association studies (GWAS). The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1). None of these genes would have been selected in a classical genetic association study since it was not known they could be implicated in asthma. To date, a number of GWAS studies in asthma have been made, with the identification of about 1000 candidate genes. Coordination of the different research groups in international consortiums and the application of new technologies such as new generation sequencing will help discover new implicated genes and improve our understanding of the molecular mechanisms underlying the disease


No disponible


Asunto(s)
Humanos , Animales , Genómica , Asma/genética , Cromosomas Humanos Par 17/genética , Proteínas de Neoplasias/genética , Proteínas de la Membrana/genética , Asma/diagnóstico , Mutación/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Epigénesis Genética , Predisposición Genética a la Enfermedad , Proteínas del Huevo/genética , Biomarcadores/metabolismo
17.
Allergol. immunopatol ; 42(6): 603-608, nov.-dic. 2014. tab
Artículo en Inglés | IBECS (España) | ID: ibc-130152

RESUMEN

Asthma is a complex disease involving numerous mediator molecules and effector cells, in combination with a range of environmental determining factors. Cytokines play a key role in the physiopathological mechanisms of asthma; the study of the structure, regulation and variations of the genes that encode for these molecules is therefore crucial. Cytokines have extremely diverse roles, and exert effects both as activators and inhibitors of the innate and adaptive immune response. Certain modifications in the expression or structure of these molecules, resulting from the presence of polymorphisms, may give rise to deregulation of the mentioned effects, and therefore to a predisposition to develop concrete asthma phenotypes


No disponible


Asunto(s)
Humanos , Citocinas/análisis , Asma/fisiopatología , Hipersensibilidad Respiratoria/fisiopatología , Inflamación/fisiopatología , Interleucinas/análisis , Factores de Crecimiento Transformadores/análisis , Linfotoxina-alfa/análisis
18.
Allergol. immunopatol ; 42(1): 64-68, ene.-feb. 2014. ilus
Artículo en Inglés | IBECS (España) | ID: ibc-119055

RESUMEN

The prostaglandin D2 receptor (PTGDR) gene has been associated to asthma and related phenotypes by linking and association studies. Functional studies involving animal models and other expression studies based on in vitro cell models also point to a possible role of polymorphisms in the promoter region, in the differential binding of transcription factors, and thus in PTGDR expression, which appear to be associated to the development of asthma or of susceptibility to the disease


No disponible


Asunto(s)
Humanos , Asma/inmunología , Hipersensibilidad/inmunología , Receptores de Tromboxano A2 y Prostaglandina H2/inmunología , Prostaglandina D2/inmunología , Hipersensibilidad Inmediata/inmunología
19.
Rev Cubana Med Trop ; 30(3): 139-46, 1978.
Artículo en Español | MEDLINE | ID: mdl-368917

RESUMEN

An immunoelectrophoretic study of serum from patients with non-treated recently acquired syphilis (RAS) is made for the first time in our country. Increases in IgM and IgG fractions were detected; the increase of the former exceeded to the latter in patients with cutaneous symptomatic recently acquired syphilis (CSRAS) in comparison with those having mucous cutaneous symptomatic recently acquired syphilis (MCSRAS). IgG were increased in 100% of patients with this latter disease, although both fractions were increased in patients with latent recently acquired syphilis (LRAS).


Asunto(s)
Inmunoelectroforesis/métodos , Inmunoglobulina G/análisis , Inmunoglobulina M/análisis , Sífilis/inmunología , Adolescente , Adulto , Femenino , Humanos , Técnicas In Vitro , Masculino , Persona de Mediana Edad
20.
Allergol. immunopatol ; 40(6): 385-389, nov.-dic. 2012. ilus
Artículo en Inglés | IBECS (España) | ID: ibc-107721

RESUMEN

Tryptase is one of the main proteases located in the secretory granules of the mast cells, and is released through degranulation. It is therefore assumed to play an important role in inflammatory and allergic processes. Four genes are known to encode for these enzymes, with different alleles that give rise to different types of tryptases. The term "tryptase" generally refers to beta-tryptase, which in vivo is a heterotetramer, possessing a structure of vital importance for enabling drug and substrate access to the active site of the molecule. Tryptase has been reported to possess antagonistic functions, since it plays an important role both in inflammatory phenomena and as a protector against infection. In allergic processes it is associated to bronchial hyperresponsiveness in asthmatic patients, where PAR-2 is of great importance as an airway receptor. Lastly, the genes that encode for tryptase are highly polymorphic and complex. As a result, it is important to establish a relationship between genotype and phenotype in disorders such as asthma, and to identify mutations that are presumably of pharmacological relevance(AU)


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Asunto(s)
Humanos , Triptasas/genética , Hipersensibilidad/genética , Mastocitos/inmunología , Sistema Nervioso Periférico/inmunología
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