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1.
J Intellect Disabil Res ; 67(11): 1124-1135, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37574777

RESUMEN

BACKGROUND: The prevalence of overweight/obesity has been increasing globally and in people with Intellectual Disabilities (IDs), this problem is exacerbated even more, which added to a low physical condition that contributes to the deterioration of functionality and increases the risk of developing chronic diseases in the course of life. Therefore, the aim of this study was to establish cut-off points for levels of isometric handgrip and low limb explosive strength in children, adolescents and adults, which identify overweight/obesity in people with IDs and their respective associations. METHODS: The sample was made up of 131 individuals with IDs, belonging to four special and community educational centres in the city of Santiago, Chile. Body mass index (BMI) and waist-to-height ratio (WHR) were used as indicators of overweight/obesity. Handgrip strength was used as a measure of isometric strength, and countermovement jump was used as a measure of low limb explosive strength. For the comparison of variables by age group, the analysis of Ancova, Kruskal-Wallis and chi-square tests were used. The total area under the receiver operating characteristic curve of isometric handgrip and low limb explosive strength was identified as an indicator of overweight/obesity according to age groups. A logistic regression model was used to quantify the effect that strength categories below the cut-off point have on the risk of overweight and obesity. RESULTS: Significant differences were observed between the age groups for body weight, height, BMI and WHR, as well as in the levels of absolute handgrip strength and vertical jump with countermovement (P ≤ 0.05). Children showed the lowest cut-off points for absolute and relative strength. The adolescent group showed the highest cut-off points for relative strength and countermovement jump and adults showed the highest value for absolute strength as indicators of overweight/obesity. Different associations between cut-off points with BMI and WHR were found. CONCLUSIONS: Adolescents showed the highest cut-off point for relative strength and countermovement jump, and adults showed the highest value for absolute strength, according to overweight/obesity indicators (BMI and WHR). It is suggested to adjust resistance training programmes according to age categories for the prevention of overweight/obesity in people with IDs.

4.
Rev Esp Quimioter ; 35 Suppl 3: 63-66, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36285861

RESUMEN

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency (PID) in general population. PID are genetic diseases that share a dysfunction in the immune system entailing a greater risk of both chronic and recurrent infections. These patients can also develop chronic gastrointestinal infections caused by norovirus with persistent viral dissemination, which can be detected months after primoinfection. Additionally, a proportion of CVID patients show a typical severe enteropathy presenting with recurrent diarrhoea, intestinal malabsorption, inflammatory lesions, and villous atrophy. Some studies have related this enteropathy with chronic intestinal infection caused by norovirus.


Asunto(s)
Infecciones por Caliciviridae , Inmunodeficiencia Variable Común , Enfermedades Gastrointestinales , Enfermedad Injerto contra Huésped , Humanos , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/patología , Reinfección , Infecciones por Caliciviridae/complicaciones , Infecciones por Caliciviridae/patología , Diarrea , Enfermedad Injerto contra Huésped/complicaciones
5.
Neurologia (Engl Ed) ; 37(4): 250-256, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35595400

RESUMEN

OBJECTIVE: To describe baseline and procedural characteristics and clinical outcomes of isolated striatocapsular infarct (iSCI) after mechanical thrombectomy in patients with large-vessel occlusion of the anterior cerebral circulation and its clinical outcome. METHODS: We performed a longitudinal study including all patients treated with mechanical thrombectomy at our centre between 2015 and 2017; patients were divided into 2 groups (iSCI and non-iSCI) according to whether they presented iSCI in a control CT scan at 24 hours. RESULTS: Of the 83 patients identified, 22.9% developed an iSCI. There were no statically significant differences in baseline characteristics or in reperfusion times. Patients presenting iSCI showed better collateral circulation and better reperfusion rates in the bivariate analysis. No significant difference was observed for mortality at discharge or at 3 months, or for functional prognosis at 3 months. CONCLUSIONS: Even if successful reperfusion is achieved, iSCI is a common sequela, independently of reperfusion time, especially in patients with good collateral circulation.


Asunto(s)
Infarto , Trombectomía , Humanos , Incidencia , Infarto/etiología , Estudios Longitudinales , Estudios Retrospectivos , Trombectomía/efectos adversos , Resultado del Tratamiento
6.
Genetics ; 181(4): 1687-91, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19204377

RESUMEN

In generating a conditional transgenic murine model based on a tetracycline-regulated system, we obtained unexpected patterns of expression due to the transcriptional inactivity of the tet-responder promoter. Here we show strong cell-type-restricted expression that was variegated to an extent determined by the number of responder transgene copies integrated into the host genome.


Asunto(s)
Regulación de la Expresión Génica/efectos de los fármacos , Tetraciclina/farmacología , Transgenes/efectos de los fármacos , Animales , Dosificación de Gen/fisiología , Proteínas Fluorescentes Verdes/genética , Proteínas Fluorescentes Verdes/metabolismo , Ratones , Ratones Transgénicos , Modelos Biológicos , Nervio Olfatorio/metabolismo , Especificidad de Órganos/genética , Inhibidores de la Síntesis de la Proteína/farmacología , Superóxido Dismutasa/genética , Superóxido Dismutasa/metabolismo , Superóxido Dismutasa-1
7.
Ann Hum Biol ; 37(4): 501-23, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20105115

RESUMEN

BACKGROUND: Southern Siberian populations, including the Buryat, have been of great interest in investigating the exchanges between Eastern and Western Eurasia and understanding the peopling of Siberia and the New World. AIM: Previous studies mainly employed a phylogenetic approach, and thus used pooled samples to detect a maximum of variability. As different sampling strategies may result in different pictures of a population's evolutionary history, we proposed in this study to focus on a local Buryat population selected on the basis of geographical, archaeological and ethno-historical data. SUBJECTS AND METHODS: This study investigated a local population from the Barguzin Valley, on the north-western shores of Lake Baikal identified as the most likely place of Buryat origin. We analysed mitochondrial DNA (mtDNA) RFLPs markers, HVS-I and HVS-II sequences to discuss the genetic variability of this population, and to compare our local sample with pooled Buryat samples and neighbouring Siberian populations. RESULTS: The Barguzin Buryat sample shows depressed neutrality scores compared to the pooled Buryat sample, and different genetic affinities with the Mongol and Turco-Evenk populations. CONCLUSION: These results underline the need to use local samples, in addition to pooled samples, to investigate the history of human populations at the micro-evolutionary level.


Asunto(s)
ADN Mitocondrial/genética , Etnicidad/genética , Evolución Molecular , Variación Genética , Genética de Población , Secuencia de Bases , Demografía , Pool de Genes , Geografía , Haplotipos/genética , Humanos , Filogenia , Tamaño de la Muestra , Siberia
8.
Radiologia (Engl Ed) ; 62(2): 148-159, 2020.
Artículo en Inglés, Español | MEDLINE | ID: mdl-31563419

RESUMEN

OBJECTIVE: To know the anatomy of the pulmonary veins (PVs) by multidetector computed tomography (MDCT) in patients with atrial fibrillation (AF) prior to ablation. MATERIALS AND METHODS: MDCT was performed in 89 patients with AF, analyzing the number of PVs, accessory variants and veins, diameter and ostial shape, distance to the first bifurcation and thrombus in the left atrial appendage. RESULTS: The most frequent venous pattern was 4 PVs (two right and two. left) in 49 patients (55.1%). The superior veins had a statistically significant greater mean ostial diameter than the inferior veins (Right Superior Pulmonary Vein (RSPV)> Right Inferior Pulmonary Vein (RIPV); p=0.001 and Left Superior Pulmonary Vein (LSPV)> Left Inferior Pulmonary Vein (LIPV); p<0.001). The right pulmonary veins ostial diameters were significantly larger than the left pulmonary veins ostial diameters (RSPV> LSPV; p<0.001 and RIPV> LIPV; p<0.001). The most circular ostium was presented by the VPID (ratio: 0.885) compared to the LIPV (p<00.1) and LSPV (p<0.001). The superior veins had a statistically significant greater mean distance to first bifurcation than the inferior veins (RSPV> RIPV; p=0.008 and LSPV> LIPV; p=0.038). Mean distance to first bifurcation has been greater in left PVs respect to the right PVs (LSPV> RSPV; p<0.001and LIPV> RIPV; p<0.001). Other findings found in AI: diverticula (30), accessory auricular appendages (5), septal aneurysms (8), septal bags (6) and 1 thrombus in the left atrial appendage. CONCLUSION: MDCT prior to ablation demonstrates the anatomy of the left atrium (LA) and pulmonary veins with significant differences between the diameters and morphology of the venous ostia.


Asunto(s)
Fibrilación Atrial/cirugía , Atrios Cardíacos/diagnóstico por imagen , Tomografía Computarizada Multidetector , Venas Pulmonares/diagnóstico por imagen , Adulto , Anciano , Femenino , Atrios Cardíacos/anatomía & histología , Cardiopatías/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Periodo Preoperatorio , Venas Pulmonares/anatomía & histología , Trombosis/diagnóstico por imagen
9.
Science ; 271(5254): 1380-7, 1996 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-8596909

RESUMEN

Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion polymorphism at the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, and 8 Amerindian). Sub-Saharan African populations had more haplotypes and exhibited more variability in frequencies of haplotypes than the Northeast African or non-African populations. The Alu deletion was nearly always associated with a single STRP allele in non-African and Northeast African populations but was associated with a wide range of STRP alleles in the sub-Saharan African populations. This global pattern of haplotype variation and linkage disequilibrium suggests a common and recent African origin for all non-African human populations.


Asunto(s)
Antígenos CD4/genética , Cromosomas Humanos Par 12 , Evolución Molecular , Hominidae/genética , Desequilibrio de Ligamiento , Polimorfismo Genético , África , Alelos , Animales , Secuencia de Bases , Frecuencia de los Genes , Variación Genética , Haplotipos , Humanos , Datos de Secuencia Molecular , Primates/genética , Secuencias Repetitivas de Ácidos Nucleicos , Eliminación de Secuencia
10.
Neurologia (Engl Ed) ; 2019 May 04.
Artículo en Inglés, Español | MEDLINE | ID: mdl-31064665

RESUMEN

OBJECTIVES: To describe baseline and procedural characteristics and clinical outcomes of isolated striatocapsular infarct (iSCI) after mechanical thrombectomy in patients with large-vessel occlusion of the anterior cerebral circulation andits clinical outcome. METHODS: We performed a longitudinal study including all patients treated with mechanical thrombectomy at our centre between 2015 and 2017; patients were divided into 2 groups (iSCI and non-iSCI) according to whether they presented iSCI in a control CT scan at 24h. RESULTS: Of the 83 patients identified, 22.9% developed an iSCI. There were no statically significant differences in baseline characteristics or in reperfusion times. Patients presenting iSCI showed better collateral circulation and better reperfusion rates in the bivariate analysis. No significant difference was observed for mortality at discharge or at 3 months, or for functional prognosis at 3 months. CONCLUSIONS: Even if successful reperfusion is achieved, iSCI is a common sequela, independently of reperfusion time, especially in patients with good collateral circulation.

11.
Rev Neurol ; 68(6): 236-240, 2019 Mar 16.
Artículo en Español | MEDLINE | ID: mdl-30855707

RESUMEN

INTRODUCTION: The great vulnerability of the striatocapsular region to ischaemia means that mechanical thrombectomy has its limitations in occlusions of large-calibre vessels when it comes to preventing the striatocapsular region from undergoing infarction. AIMS: To analyse the effect of endovascular treatment on the incidence of isolated striatocapsular infarction (iSCI) and to describe its clinical characteristics. PATIENTS AND METHODS: We conducted a retrospective study to analyse the incidence of iSCI following treatment of cerebral reperfusion. The baseline and clinical characteristics of the patients identified with iSCI and the incidence of iSCI is compared between two groups according to the availability of mechanical thrombectomy: one (pre-thrombectomy group) that received intravenous fibrinolysis as the only treatment for cerebral reperfusion available in that moment; and another (post-thrombectomy group) that received a mechanical thrombectomy with or without intravenous fibrinolysis. RESULTS: Of the 390 patients who received reperfusion, 8.2% had iSCI. Of the 135 patients treated with intravenous fibrinolysis, 4.4% (n = 6) developed iSCI (pre-thrombectomy group), and of the 255 patients treated in the post-thrombectomy group, iSCI was observed in 10.2%. The statistical analysis of the incidence of iSCI between the two groups showed significant differences (p = 0.034). A sensory-motor clinical picture was the most frequent among the patients with iSCI (63.33%), with a frequency of cortical symptoms of 55.17%. CONCLUSIONS: According to the data, there has been an increase in the incidence of iSCI in our setting following the establishment of mechanical thrombectomy.


TITLE: Influencia de la trombectomia mecanica en la incidencia de infarto estriatocapsular aislado y descripcion de sus caracteristicas clinicas.Introduccion. La gran vulnerabilidad a la isquemia de la region estriatocapsular hace que la trombectomia mecanica tenga sus limitaciones en las oclusiones de vaso de gran calibre a la hora de evitar que la region estriatocapsular se infarte. Objetivos. Analizar el efecto del tratamiento endovascular en la incidencia de infarto estriatocapsular aislado (IECa) y describir sus caracteristicas clinicas. Pacientes y metodos. Estudio retrospectivo en el que se analiza la incidencia de IECa tras el tratamiento de reperfusion cerebral. Se describen las caracteristicas basales y clinicas de los pacientes identificados con IECa y se compara la incidencia del IECa entre dos grupos segun la disponibilidad de trombectomia mecanica: uno (grupo pretrombectomia) que recibio fibrinolisis intravenosa como unico tratamiento de reperfusion cerebral disponible en ese momento, y otro (grupo postrombectomia) que recibio trombectomia mecanica con o sin fibrinolisis intravenosa. Resultados. Del total de 390 pacientes reperfundidos, un 8,2% tuvo un IECa. De 135 pacientes tratados con fibrinolisis intravenosa, un 4,4% (n = 6) desarrollo un IECa (grupo pretrombectomia), y de 255 pacientes tratados en el grupo postrombectomia, se visualizo IECa en un 10,2%. El analisis estadistico de la incidencia de IECa entre ambos grupos mostro diferencias significativas (p = 0,034). La clinica sensomotora fue la mas frecuente entre los pacientes con IECa (63,33%), con una frecuencia de sintomas corticales de un 55,17%. Conclusiones. Segun los datos, hemos presenciado un aumento en la incidencia de IECa en nuestro medio tras la instauracion de la trombectomia mecanica.


Asunto(s)
Infarto Cerebral/epidemiología , Complicaciones Posoperatorias/epidemiología , Trombectomía/métodos , Anciano , Anciano de 80 o más Años , Infarto Cerebral/diagnóstico , Infarto Cerebral/terapia , Femenino , Humanos , Incidencia , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/terapia , Estudios Retrospectivos
12.
Eur Respir J ; 32(2): 285-95, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18321928

RESUMEN

Transforming growth factor (TGF)-beta signalling plays important roles in regulating lung development. However, the specific regulatory functions of TGF-beta signalling in developing lung epithelial versus mesenchymal cells are still unknown. By immunostaining, the expression pattern of the TGF-beta type II receptor (TbetaRII) was first determined in the developing mouse lung. The functions of TbetaRII in developing lung were then determined by conditionally knocking out TbetaRII in the lung epithelium of floxed-TbetaRII/surfactant protein C-reverse tetracycline transactivator/TetO-Cre mice versus mesenchyme of floxed-TbetaRII/Dermo1-Cre mice. TbetaRII was expressed only in distal airway epithelium at early gestation (embryonic day (E)11.5), but in both airway epithelium and mesenchyme from mid-gestation (E14.5) to post-natal day 14. Abrogation of TbetaRII in mouse lung epithelium resulted in retardation of post-natal lung alveolarisation, with markedly decreased type I alveolar epithelial cells, while no abnormality in prenatal lung development was observed. In contrast, blockade of TbetaRII in mesoderm-derived tissues, including lung mesenchyme, resulted in mildly abnormal lung branching and reduced cell proliferation after mid-gestation, accompanied by multiple defects in other organs, including diaphragmatic hernia. The primary lung branching defect was verified in embryonic lung explant culture. The novel findings of the present study suggest that transforming growth factor-beta type II receptor-mediated transforming growth factor-beta signalling plays distinct roles in lung epithelium versus mesenchyme to differentially control specific stages of lung development.


Asunto(s)
Epitelio/metabolismo , Regulación Enzimológica de la Expresión Génica , Pulmón/embriología , Mesodermo/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Receptores de Factores de Crecimiento Transformadores beta/metabolismo , Mucosa Respiratoria/metabolismo , Animales , Apoptosis , Proliferación Celular , Células Epiteliales/metabolismo , Pulmón/metabolismo , Ratones , Ratones Noqueados , Modelos Biológicos , Receptor Tipo II de Factor de Crecimiento Transformador beta , Transducción de Señal , Factores de Tiempo
13.
Radiologia (Engl Ed) ; 60(3): 190-207, 2018.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29366504

RESUMEN

Neuro-ophthalmology is a field combining neurology and ophthalmology that studies diseases that affect the visual system and the mechanisms that control eye movement and pupil function. Imaging tests make it possible to thoroughly assess the relevant anatomy and disease of the structures that make up the visual pathway, the nerves that control eye and pupil movement, and the orbital structures themselves. This article is divided into three sections (review of the anatomy, appropriate imaging techniques, and evaluation of disease according to clinical symptoms), with the aim of providing useful tools that will enable radiologists to choose the best imaging technique for the differential diagnosis of patients' problems to reach the correct diagnosis of their disease.


Asunto(s)
Oftalmopatías/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnóstico por imagen , Humanos
14.
Rev Esp Anestesiol Reanim (Engl Ed) ; 65(5): 252-257, 2018 May.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29502798

RESUMEN

OBJECTIVES: To establish a correlation between 4 measurements made on preoperative computed axial tomography and the presence of difficult airway, as well as its clinical prediction in patients undergoing otorhinolaryngological surgery. MATERIAL AND METHODS: A retrospective, observational study was carried out using the information gathered from the clinical notes of 104 patients undergoing general anaesthesia and endotracheal intubation for oncological otorhinolaryngological surgery over a period of 36 months. Based on the findings in the preoperative imaging tests, a multivariate logistic regression analysis was performed, where the dependent variable was the presence of extreme grades of visualization of the glottis visualisation (Cormack III-IV) or the presence of predictors of difficult intubation (Mallampati III-IV). This resulted in a total of 4 tomographic and clinical factors of difficult airway being introduced in this model. RESULTS: In the Cormack III-IV group, the results were not statistically significant in the multivariate model when compared to the tomography predictors, distance from epiglottis to posterior pharyngeal wall (95% CI; 0.030 - 2.31, P<.05), and the distance from the base of the tongue to the posterior pharyngeal wall (95% CI; 0.018-1.37, P<.05). In the Mallampati III-IV group, in the multivariate model only the distance from the vocal cords to the posterior pharyngeal wall showed clinically significant results (95% CI; 0.104 - 8.53, P<.05). CONCLUSIONS: In the approach to the airway, reliance on predictors is based on physical examination to anticipate situations that put oxygenation and ventilation of the patients at risk. There are still insufficient data to recommend imaging tests in this area, however it seems that in the future they may be added to the diagnostic performance of physical examination as predictors of difficult airway.


Asunto(s)
Manejo de la Vía Aérea , Neoplasias de Cabeza y Cuello/cirugía , Neoplasias de Oído, Nariz y Garganta/cirugía , Cuidados Preoperatorios , Tomografía Computarizada por Rayos X , Anciano , Anestesia General , Epiglotis/diagnóstico por imagen , Femenino , Humanos , Intubación Intratraqueal , Masculino , Faringe/diagnóstico por imagen , Estudios Retrospectivos , Tráquea/diagnóstico por imagen
15.
Rev Neurol ; 67(7): 242-248, 2018 Oct 01.
Artículo en Español | MEDLINE | ID: mdl-30232797

RESUMEN

INTRODUCTION: Intracerebral haemorrhage is associated with high morbidity and mortality, and an increase in its volume in the early phases entails a poorer prognosis. The blend sign, the heterogeneous density, the irregular morphology and a fluid level in the haematoma are related to an early growth of the haematoma. AIM: To determine whether these four characteristics are associated with greater mortality at 7, 30 and 90 days of the occurrence of the intracerebral haemorrhage. PATIENTS AND METHODS: A retrospective cohort study that included all the patients attended in our hospital between 2010 and 2015 for spontaneous intracerebral haemorrhage with a computed tomography brain scan performed in the first six hours following the onset of symptoms. RESULTS: Of the 158 patients included in the sample, 23 (14.6%) presented blend sign; 39 (24.7%), heterogeneity; 53 (33.5%), irregularity; and 33 (20.9%), fluid level. In the bivariate analysis, only heterogeneity and irregularity were associated with increased mortality at 7, 30 and 90 days. In the multivariate logistic regression analysis, previous treatment with an antiplatelet drug, a score on the Glasgow Coma Scale below 13 and irregularity were associated with higher mortality in the first seven days. CONCLUSION: The study shows an association between irregularity of the haematoma and mortality in the first seven days. Irregularity would allow identification of patients with a more unfavourable prognosis; in these cases, strict surveillance, especially of factors related to the growth of the haematoma, could improve their prognosis.


TITLE: Signos predictores de crecimiento precoz de la hemorragia intracerebral en la tomografia computarizada sin contraste y mortalidad.Introduccion. La hemorragia intracerebral esta asociada a una elevada morbimortalidad y su aumento de volumen en fases iniciales conlleva un peor pronostico. El signo de la mezcla, la densidad heterogenea, la morfologia irregular y un nivel liquido en el hematoma se relacionan con un crecimiento precoz del hematoma. Objetivo. Determinar si esas cuatro caracteristicas se asocian a una mayor mortalidad a los 7, 30 y 90 dias de ocurrida la hemorragia intracerebral. Pacientes y metodos. Estudio de cohortes retrospectivo que incluyo a todos los pacientes atendidos en nuestro hospital, entre 2010 y 2015, por una hemorragia intracerebral espontanea con tomografia computarizada cerebral realizada en las primeras seis horas tras el inicio de los sintomas. Resultados. De los 158 pacientes incluidos, 23 (14,6%) presentaban signo de la mezcla, 39 (24,7%) heterogeneidad, 53 (33,5%) irregularidad y 33 (20,9%) nivel liquido. En el analisis bivariante, solo la heterogeneidad y la irregularidad se asociaron a mayor mortalidad a los 7, 30 y 90 dias. En el analisis por regresion logistica multivariante, el tratamiento previo con antiagregante plaquetario, una puntuacion en la escala de coma de Glasgow menor de 13 y la irregularidad se asociaron a una mayor mortalidad en los siete primeros dias. Conclusion. El estudio muestra asociacion entre la irregularidad del hematoma y la mortalidad en los siete primeros dias. La irregularidad permitiria identificar a pacientes con peor pronostico, en los que una vigilancia estricta, especialmente de factores relacionados con el crecimiento del hematoma, podria mejorar su pronostico.


Asunto(s)
Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/mortalidad , Anciano de 80 o más Años , Hemorragia Cerebral/patología , Estudios de Cohortes , Femenino , Hematoma/diagnóstico por imagen , Hematoma/patología , Humanos , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Factores de Tiempo , Tomografía Computarizada por Rayos X
16.
Artículo en Inglés | MEDLINE | ID: mdl-17521972

RESUMEN

An isocratic ion-pair high-performance liquid chromatography (IP-RP-HPLC) method with UV detection was developed to identify and quantify ellagic acid (EA). This phenolic compound is widely distributed in the plants and is often present in the diet of ruminants. The method was validated and validation parameters were: linearity range 5-100 mg/L; correlation coefficient, 0.9995; mean recoveries (99.94 and 101.07%) and detection limit 1.4 mg/L. Method was applied for the determination of ellagic acid in oak leaves and in ruminal fluid from to a vitro ruminal system. The proposed method proved to be rapid and accurate and can be successfully used in ruminant nutrition studies.


Asunto(s)
Cromatografía Líquida de Alta Presión/métodos , Ácido Elágico/análisis , Hojas de la Planta/química , Quercus/química , Estómago de Rumiantes/química , Animales , Ácido Elágico/aislamiento & purificación , Ovinos
17.
J Neurol Neurosurg Psychiatry ; 77(10): 1191-3, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16614010

RESUMEN

AIM: To analyse the influence of apolipoprotein (APOE) epsilon4 status on the cognitive and behavioural functions usually impaired after moderate and severe traumatic brain injury (TBI). METHODS: In all, 77 patients with TBI selected from 140 consecutive admissions were genotyped for APOE. Each patient was subjected to neuropsychological and neurobehavioural assessment at least 6 months after injury. RESULTS: Performance of participants carrying the epsilon4 allele was notably worse on verbal memory (Auditory Verbal Learning Test), motor speed, fine motor coordination, visual scanning, attention and mental flexibility (Grooved Pegboard, Symbol Digit Modalities Test and part B of the Trail Making Test) and showed considerably more neurobehavioural disturbances (Neurobehavioral Rating Scale-Revised) than the group without the epsilon4 allele. CONCLUSIONS: In particular, performance on neuropsychological tasks that are presumed to be related to temporal lobe, frontal lobe and white matter integrity is worse in patients with the APOE epsilon4 allele than in those without it. More neurobehavioural disturbances are observed in APOE epsilon4 carriers than in APOE epsilon2 and epsilon3 carriers.


Asunto(s)
Apolipoproteínas E/genética , Lesiones Encefálicas/genética , Lesiones Encefálicas/rehabilitación , Cognición , Polimorfismo Genético , Apolipoproteína E4 , Atención , Lesiones Encefálicas/psicología , Estudios de Cohortes , Lóbulo Frontal/patología , Lóbulo Frontal/fisiología , Genotipo , Humanos , Destreza Motora , Pruebas Neuropsicológicas , Índice de Severidad de la Enfermedad , Lóbulo Temporal/patología , Lóbulo Temporal/fisiología , Resultado del Tratamiento , Percepción Visual
18.
Eur J Hum Genet ; 6(4): 315-24, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9781037

RESUMEN

Genetic diversity in Northern Spain (SW Europe) was assessed through the analysis of the GM and KM immunoglobulin markers in 505 individuals using a set of 17 allotypes, including the G2M(23) allotype which has been infrequently used before now. The individuals were representative of three anthropologically well-defined populations belonging to two geographically and archaeologically distinct areas in the Basque Country (Guipúzcoa and Alava provinces) and to the mountainous region of Montes de Pas in the province of Cantabria. Gene frequency distributions indicated a high genetic divergence between Montes de Pas and the Basque Country, and a relative degree of heterogeneity between the two Basque regions. The genetic differentiation of Montes de Pas, which is consistent with previous classical polymorphism analyses, suggests a considerable genetic variation range within the Iberian Peninsula, possibly higher than that often polarised around the Basque versus non-Basque variation. Analyses of genetic structure show that the major differentiation of Montes de Pas could be related to the historically documented mixed origin of this population. The moderate genetic distances between regions in the Spanish Basque Country could be explained by differential systematic pressures acting through a stronger gene flow in the South than in the more isolated Northern areas. The comparisons with neighbouring populations from the French Pyrenees suggest that the present genetic variation revealed by lg polymorphisms in SW Europe can be related to historical demographic processes including gene flow and/or low population sizes.


Asunto(s)
Variación Genética , Alotipos de Inmunoglobulinas/genética , Marcadores Genéticos , Haplotipos , Humanos , Fenotipo , España
19.
Neurobiol Aging ; 22(3): 449-59, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11378252

RESUMEN

The present study investigated the relationship between genetic variation, MRI measurements and neuropsychological function in a sample of 58 elders exhibiting memory decline. In agreement with previous reports, we found that the epsilon4 allele of the apolipoprotein E (APOE) and the D allele of the angiotensin converting enzyme (ACE) polymorphisms negatively modulated the cognitive performance. Further, we found an association between the A allele of the apolipoprotein C1 (APOC1) polymorphism and poorer memory and frontal lobe function. No clear associations emerged between MRI measures of white matter lesions (WML) or hippocampal sulcal cavities (HSC) and the cognitive performance after controlling for age effects. Further, the degree of WML or HSC lesions was in general not predisposed genetically except for the presence of the A allele of the APOC1 polymorphism that was related to a higher severity of HSC scores. Our results suggest that WML or HSC do not represent important brain correlates of genetic influences on cognitive performance in memory impaired subjects.


Asunto(s)
Envejecimiento/fisiología , Encéfalo/fisiopatología , Imagen por Resonancia Magnética , Trastornos de la Memoria/genética , Trastornos de la Memoria/fisiopatología , Polimorfismo Genético/genética , Anciano , Anciano de 80 o más Años , Apolipoproteína C-I , Apolipoproteínas C/genética , Apolipoproteínas E/genética , Encéfalo/patología , Femenino , Lóbulo Frontal/patología , Lóbulo Frontal/fisiopatología , Genotipo , Hipocampo/patología , Hipocampo/fisiopatología , Humanos , Hipertensión/complicaciones , Masculino , Memoria/fisiología , Trastornos de la Memoria/complicaciones , Trastornos de la Memoria/enzimología , Peptidil-Dipeptidasa A/genética , Fenotipo
20.
Hum Immunol ; 62(9): 871-84, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11543889

RESUMEN

Y-chromosome variation was analyzed in a sample of 1127 males from the Western Mediterranean area by surveying 16 biallelic and 4 multiallelic sites. Some populations from Northeastern Europe and the Middle East were also studied for comparison. All Y-chromosome haplotypes were included in a parsimonious genealogic tree consisting of 17 haplogroups, several of which displayed distinct geographic specificities. One of the haplogroups, HG9.2, has some features that are compatible with a spread into Europe from the Near East during the Neolithic period. However, the current distribution of this haplogroup would suggest that the Neolithic gene pool had a major impact in the eastern and central part of the Mediterranean basin, but very limited consequences in Iberia and Northwestern Europe. Two other haplogroups, HG25.2 and HG2.2, were found to have much more restricted geographic distributions. The first most likely originated in the Berbers within the last few thousand years, and allows the detection of gene flow to Iberia and Southern Europe. The latter haplogroup is common only in Sardinia, which confirms the genetic peculiarity and isolation of the Sardinians. Overall, this study demonstrates that the dissection of Y-chromosome variation into haplogroups with a more restricted geographic distribution can reveal important differences even between populations that live at short distances, and provides new clues to their past interactions.


Asunto(s)
Variación Genética , Polimorfismo Genético , Cromosoma Y/genética , África del Norte , Alelos , Europa (Continente) , Haplotipos/genética , Humanos , Masculino , Región Mediterránea , Repeticiones de Microsatélite , Medio Oriente , Análisis Multivariante , Recombinación Genética
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