489 results on '"Agustín, Ruiz"'
Search Results
452. Hemothorax following Administration of Intrapleural Alteplase
- Author
-
Agustín Ruiz, José M. Porcel, Ana Belén Madroñero, and Carles Galindo
- Subjects
Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Text mining ,business.industry ,Medicine ,business ,Hemothorax ,medicine.disease ,Administration (government) ,Surgery - Published
- 2006
- Full Text
- View/download PDF
453. Tos crónica y fiebre como forma de presentación de una arteritis de células gigantes
- Author
-
Agustín Ruiz-González and J.M. Porcel-Pérez
- Subjects
Pulmonary and Respiratory Medicine ,business.industry ,Medicine ,business ,Humanities - Published
- 2003
- Full Text
- View/download PDF
454. THE ROLE OF NEW TECHNOLOGIES TO RESEARCH CONSOLIDATED TOURIST ATTRACTIONS: THE CASE OF THE MUMMY MUSEUM, GUANAJUATO, MEXICO.
- Author
-
Rodríguez, Rafael Guerrero and Lanuza, Agustín Ruiz
- Abstract
Copyright of TURyDES is the property of TURYDES and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2014
455. More Experience, but Not a New Experience
- Author
-
Miquel Falguera, Antoni Nogués, and Agustín Ruiz-González
- Subjects
Microbiology (medical) ,Medical education ,Infectious Diseases ,business.industry ,Medicine ,Personal experience ,business - Published
- 2002
- Full Text
- View/download PDF
456. Nonsevere Community-Acquired Pneumonia
- Author
-
Oscar Sacristán, Manuel Rubio-Caballero, Anton Manonelles, Mercè García, Antoni Nogués, Agustín Ruiz-González, and Miquel Falguera
- Subjects
Adult ,Male ,Mycoplasma pneumoniae ,medicine.medical_specialty ,Comorbidity ,medicine.disease_cause ,Polymerase Chain Reaction ,Severity of Illness Index ,Community-acquired pneumonia ,Internal medicine ,Pneumonia, Mycoplasma ,Severity of illness ,Streptococcus pneumoniae ,Pneumonia, Bacterial ,Internal Medicine ,medicine ,Humans ,Chlamydophila Infections ,Aged ,business.industry ,Chlamydophila pneumoniae ,Middle Aged ,Pneumonia, Pneumococcal ,Prognosis ,medicine.disease ,respiratory tract diseases ,Community-Acquired Infections ,Pneumonia ,Immunology ,Sputum ,Female ,medicine.symptom ,business - Abstract
Background Community-acquired pneumonia frequently constitutes a nonsevere infection manageable at home. However, for these low-risk episodes, the epidemiological features have not been carefully analyzed. Objectives To determine the cause of nonsevere community-acquired pneumonia and to investigate if a correlation exists between cause and severity or comorbidity. Methods During a 3-year period, all patients with nonsevere community-acquired pneumonia, according to the Pneumonia Patient Outcome Research Team prognostic classification (patients in groups 1-3), were included in the study. Causes were investigated through the following procedures: cultures of blood, sputum, and pleural fluid; serologic tests; and polymerase chain reaction methods to detect Streptococcus pneumoniae DNA in whole blood or Mycoplasma pneumoniae and Chlamydia pneumoniae DNA in throat swab specimens. Results Of 317 initially included patients, 247 were eligible for the study. A microbial diagnosis was obtained in 162 patients (66%), and the main pathogens detected were S pneumoniae (69 patients [28%]), M pneumoniae (40 patients [16%]), and C pneumoniae (28 patients [11%]). For the 58 patients in prognostic group 1, M pneumoniae was the most prevalent cause, and atypical microorganisms constituted 40 (69%) of the isolated agents. In contrast, for patients in prognostic groups 2 and 3, S pneumoniae was the leading agent, and a significant reduction of M pneumoniae cases and a greater presence of other more uncommon pathogens were observed. The existence of comorbid conditions was not a determining factor for particular causes. Conclusions Among low-risk patients with community-acquired pneumonia, there was a certain correlation between severity and cause. In contrast, the existence of a comorbidity did not have a predictive causative value.
- Published
- 2001
- Full Text
- View/download PDF
457. Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) inRPE65gene
- Author
-
Agustín Ruiz, Salud Borrego, Irene Marcos, and Guillermo Antiñolo
- Subjects
Genetics ,RPE65 ,Carrier protein ,Cis-trans-Isomerases ,Biology ,Gene ,Genetics (clinical) - Published
- 2001
- Full Text
- View/download PDF
458. Identification of two highly informative STRs (GT) 15‐25 and (GT) 9‐21 within the critical region of RP25
- Author
-
José Jorge Galán, I. Marcos, Salud Borrego, Guillermo Antiñolo, and Agustín Ruiz
- Subjects
Retinitis pigmentosa ,Genetics ,medicine ,Identification (biology) ,Computational biology ,Biology ,medicine.disease ,Genetics (clinical) - Published
- 2000
- Full Text
- View/download PDF
459. Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25)
- Author
-
Guillermo Antiñolo, Salud Borrego, Agustín Ruiz, I. Marcos, G R Cutting, and C J Blaschak
- Subjects
Genetics ,Candidate gene ,Retina ,medicine.medical_specialty ,genetic structures ,Locus (genetics) ,Biology ,medicine.disease ,Disease gene identification ,eye diseases ,medicine.anatomical_structure ,Molecular genetics ,Retinitis pigmentosa ,Chromosomal region ,medicine ,sense organs ,Allele ,Genetics (clinical) - Abstract
Editor—Retinitis pigmentosa (RP, MIM 268000) is the most frequent form of retinal dystrophy world wide. The clinical findings are night blindness and narrowing of the visual field. Examination of the fundus of the eye in RP patients usually shows bone spicula pigmentation of the retina, waxy pallor of the optic disc, attenuation of the retinal blood vessels, and no results detectable by electroretinogram.1 RP shows notable allelic and non-allelic heterogeneity2(RET-GEN-NET htp://www.sph.uth.tm.edu/Retnet/home.htm). By using classical linkage strategies and the direct and indirect candidate gene approach, the number of RP loci identified has grown increasingly since 1989 and to date more than 30 autosomal RP loci have been identified, including syndromic and non-syndromic forms of the disease. Autosomal recessive RP (ARRP) is the commonest form of RP and to date at least 13 independent ARRP loci have been identified.3-15 Our group proposed the hypothesis that the alteration of functions related to neurotransmission in the external plexiform layer of the retina could be related to RP.14 In order to test this model, we used homozygosity mapping to analyse different genes involved in retinal neurotransmission. Using this indirect candidate gene approach, we identified the locus RP25 in an important subgroup of ARRP patients from our cohort. In fact, around 14% of the ARRP families from southern Spain showed linkage to RP25. 14 RP25 is an ARRP locus located on the long arm of chromosome 6 between markers D6S257 and D6S1644 (MIM 602772). This chromosomal region contains the GABRR1 and GABRR2 genes, both being expressed in the retina. These genes encode the rho1 and rho2 subunits of the C type receptor for γ-aminobutyric acid (GABAc receptor).16 17The GABAc …
- Published
- 2000
- Full Text
- View/download PDF
460. A new germline mutation, R600Q, within the coding region ofRET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation?
- Author
-
Arancha Cebrián, F. Morales, Guillermo Antiñolo, Agustín Ruiz, Mercedes Robledo, Salud Borrego, and María Eugenia Sáez
- Subjects
Genetics ,Germline mutation ,Cancer research ,Coding region ,Biology ,RET proto-oncogene ,Genetics (clinical) ,Molecular analysis - Published
- 2000
- Full Text
- View/download PDF
461. Comentario del Dictamen del Tribunal Supremo canadiense de 20 de agosto de 1998 sobre la secesión de Québec
- Author
-
Agustín Ruiz Robledo and Carmen Chacón Piqueras
- Subjects
udcdata.info/021523 [http] ,Derecho ,Political science ,Political Science and International Relations ,Law - Published
- 1999
- Full Text
- View/download PDF
462. Community-acquired Chlamydia pneumoniae pneumonia
- Author
-
Antoni Nogués, Agustín Ruiz-González, and Miquel Falguera
- Subjects
Pulmonary and Respiratory Medicine ,Pneumonia ,Chlamydia ,Chlamydophila pneumoniae ,business.industry ,Immunology ,medicine ,Retrospective cohort study ,medicine.disease_cause ,medicine.disease ,business ,Virology ,STREPTOCOCCAL INFECTIONS - Published
- 1996
- Full Text
- View/download PDF
463. Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
- Author
-
A. González, M.E. Sáez, M.J. Aragón, J.J. Galán, P. Vettori, L. Molina, C. Rubio, L.M. Real, Agustín Ruiz, and R. Ramírez-Lorca
- Subjects
POLYCYSTIC ovary syndrome ,DISEASES in women ,ENDOCRINE diseases ,GENES - Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim of the present study was to investigate the role of CALPAIN-5 (CAPN5) gene in PCOS susceptibility. METHODS: We analysed four intronic polymorphisms of the CAPN5 gene in 148 well-characterized women with PCOS and 606 unrelated controls. We performed a case-control study and an intracohort analysis of clinical characteristics associated with PCOS. RESULTS: Analysis of haplotypes distribution between PCOS population compared to controls showed a strong deviation (P = 0.00029). The haplotypes GGCA and GGTG were overrepresented in PCOS patients (P = 0.009 and P = 0.001, respectively). In addition, we identified several CAPN5 haplotypes associated with phenotypic differences observed between PCOS patients, such as the presence of obesity (P = 0.02), cardiovascular complications (P = 0.02), familial antecedents of obesity (P = 0.003) and of hypertension (P = 0.007) and type 2 diabetes mellitus aggregation (P = 0.04). CONCLUSIONS: These results suggest a role of CAPN5 gene in PCOS susceptibility in humans. Moreover, novel candidate risk alleles have been identified, within CAPN5 gene, which could be associated with important phenotypic and prognosis differences observed in PCOS patients. [ABSTRACT FROM AUTHOR]
- Published
- 2006
464. Comparación de ecuaciones para estimar curvas de lactancia con diferentes estrategias de muestreo en bovinos Angus, Suizo y sus cruzas.
- Author
-
Valverde, Rodolfo Ramírez, García-Muñiz, José Guadalupe, Domínguez, Rafael Núñez, Flores, Agustín Ruiz, and Meraz Alvarado, Ma. del Refugio
- Abstract
Copyright of Veterinaria México is the property of Facultad de Medicina Veterinaria y Zootecnia UNAM and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2004
465. Comparison of equations to estimate lactation curves using different sampling strategies in Angus and Brown Swiss cattle and their crosses.
- Author
-
Valverde, Rodolfo Ramírez, García-Muñiz, José Guadalupe, Domínguez, Rafael Núñez, Flores, Agustín Ruiz, and Meraz Alvarado, Ma. del Refugio
- Subjects
MILK yield ,ABERDEEN-Angus cattle ,ANIMAL breeding ,ANIMAL health ,VETERINARY medicine - Abstract
Copyright of Veterinaria México is the property of Facultad de Medicina Veterinaria y Zootecnia UNAM and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2004
466. A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN
- Author
-
Jun, Gyungah, Ibrahim-Verbaas, Carla A., Vronskaya, Maria, Lambert, Jean-Charles, Chung, Jaeyoon, Naj, Adam C., Kunkle, Brian W., Wang, Li-San, Bis, Joshua C., Bellenguez, Céline, Harold, Denise, Lunetta, Kathryn L., Destefano, Anita L., Grenier-Boley, Benjamin, Sims, Rebecca, Beecham, Gary W., Smith, Albert V., Chouraki, Vincent, Hamilton-Nelson, Kara L., Ikram, M. Arfan, Fievet, Nathalie, Denning, Nicola, Martin, Eden R., Schmidt, Helena, Kamatani, Yochiro, Dunstan, Melanie L, Valladares, Otto, Laza, Agustin Ruiz, Zelenika, Diana, Ramirez, Alfredo, Foroud, Tatiana M., Choi, Seung-Hoan, Boland, Anne, Becker, Tim, Kukull, Walter A., van der Lee, Sven J., Pasquier, Florence, Cruchaga, Carlos, Beekly, Duane, Fitzpatrick, Annette L., Hanon, Oliver, Gill, Michael, Barber, Robert, Gudnason, Vilmundur, Campion, Dominique, Love, Seth, Bennett, David A., Amin, Najaf, Berr, Claudine, Tsolaki, Magda, Buxbaum, Joseph D., Lopez, Oscar L., Deramecourt, Vincent, Fox, Nick C, Cantwell, Laura B., Tárraga, Lluis, Dufouil, Carole, Hardy, John, Crane, Paul K., Eiriksdottir, Gudny, Hannequin, Didier, Clarke, Robert, Evans, Denis, Mosley, Thomas H., Letenneur, Luc, Brayne, Carol, Maier, Wolfgang, Emilsson, Valur, Dartigues, Jean-François, Hampel, Harald, Kamboh, M. Ilyas, de Bruijn, Renee F.A.G., Tzourio, Christophe, Pastor, Pau, Larson, Eric B., Rotter, Jerome I., O’Donovan, Michael C, Montine, Thomas J., Nalls, Michael A., Mead, Simon, Reiman, Eric M., Jonsson, Palmi V., Holmes, Clive, St George-Hyslop, Peter H., Boada, Mercè, Passmore, Peter, Wendland, Jens R., Schmidt, Reinhold, Morgan, Kevin, Winslow, Ashley R., Powell, John F, Carasquillo, Minerva, Younkin, Steven G., Jakobsdóttir, Jóhanna, Kauwe, John SK, Wilhelmsen, Kirk C., Rujescu, Dan, Nöthen, Markus M, Hofman, Albert, Jones, Lesley, Haines, Jonathan L., Psaty, Bruce M., Van Broeckhoven, Christine, Holmans, Peter, Launer, Lenore J., Mayeux, Richard, Lathrop, Mark, Goate, Alison M., Escott-Price, Valentina, Seshadri, Sudha, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, van Duijn, Cornelia M., Schellenberg, Gerard D., Farrer, Lindsay A., and De Jager, Philip
- Abstract
APOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer’s Project (IGAP) Consortium in APOE ε4+ (10,352 cases and 9,207 controls) and APOE ε4− (7,184 cases and 26,968 controls) subgroups as well as in the total sample testing for interaction between a SNP and APOE ε4 status. Suggestive associations (P<1x10−4) in stage 1 were evaluated in an independent sample (stage 2) containing 4,203 subjects (APOE ε4+: 1,250 cases and 536 controls; APOE ε4-: 718 cases and 1,699 controls). Among APOE ε4− subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 datasets (best SNP, rs2732703, P=5·8x10−9). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100 kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE ε4+ subjects (CR1 and CLU) or APOE ε4− subjects (MS4A6A/MS4A4A/ MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6x10−7) is noteworthy because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P≤1.3x10−8), frontal cortex (P≤1.3x10−9), and temporal cortex (P≤1.2x10−11). Rs113986870 is also strongly associated with a MAPT probe that targets transcription of alternatively spliced exon 3 in frontal cortex (P=9.2x10−6) and temporal cortex (P=2.6x10−6). Our APOE-stratified GWAS is the first to show GWS association for AD with SNPs in the chromosome 17q21.31 region. Replication of this finding in independent samples is needed to verify that SNPs in this region have significantly stronger effects on AD risk in persons lacking APOE ε4 compared to persons carrying this allele, and if this is found to hold, further examination of this region and studies aimed at deciphering the mechanism(s) are warranted., Version of Record
- Published
- 2015
- Full Text
- View/download PDF
467. Biochemical Evaluation of Fungal Disease Resistance in Sugarcane
- Author
-
Agustín Ruiz, R. H. Maribona, M. Ramos Leal, and Ivana Sandoval
- Subjects
biology ,Resistance (ecology) ,business.industry ,Graph based ,Drechslera sacchari ,food and beverages ,Plant Science ,Plant disease resistance ,biology.organism_classification ,Rust ,Biotechnology ,Fungal disease ,Saccharum officinarum ,Genetics ,Bioassay ,business ,Agronomy and Crop Science - Abstract
Two methods are proposed to evaluate rust and eye spot disease resistance in sugarcane using biochemical criteria. Eye spot disease resistance is easily evaluated by a fast conductimetric bioassay of high sensitivity. If desired, the conductimetric values may be converted into grades of field resistance by means of a regression graph based on standard varieties. The main advantages of this method art it's complete objectivity, reproducibility and independence of climatic conditions. It was also found that susceptibility of sugarcane to rust can be recognized very early in the infection process by a striking increment of peroxidase activity. The simplicity of this enzyme reaction, which can easily be automated and the speed of detection during infection are discussed as an option for rust resistance evaluation.
- Published
- 1989
- Full Text
- View/download PDF
468. Simulación del proceso de fermentación de cerveza artesanal
- Author
-
A. Garduño-García, Agustín Ruiz-García, S. Martínez-Romero, and Irineo L. López-Cruz
- Subjects
sensitivity analysis ,mechanistic model ,sistema dinámico ,análisis de sensibilidad ,Ingeniería ,dynamic system ,calibración ,beer ,modelo mecanicista ,calibration ,cerveza - Abstract
ResumenEl objetivo de la presente investigación fue estudiar el comportamiento del proceso de fermentación de cerveza artesanal mediante un modelo matemático dinámico. El modelo contiene las tasas de cambio de las variables de estado concentración de glucosa, maltosa y maltotriosa. La variable de salida es la concentración de etanol y como variable auxiliar contempla la concentración de biomasa (levaduras). Este modelo fue programado en el ambiente Matlab-Simulink y para su integración numérica se utilizó el método de Dormand-Prince de cuarto grado con tamaño de paso de integración variable y una tolerancia relativa de 10−8. Para conocer sus parámetros más importantes se realizó un análisis de sensibilidad local. Además se llevó a cabo un experimento para producir cerveza artesanal a una temperatura constante (21°C). Se implementaron 14 unidades experimentales (fermentadores) con las mismas condiciones iniciales. De cada fermentador, se midieron las concentraciones de las variables de estado incluidas en el modelo matemático. Usando los resultados experimentales el modelo se calibró mediante los algoritmos de optimización mínimos cuadrados no lineales y evolución diferencial. De acuerdo con las estadísticas sesgo (BIAS), coeficiente de correlación (r), raíz cuadrada del cuadrado medio (RMSE), error medio absoluto (MAE) y eficiencia de modelación (EF) se encontró un buen ajuste entre las predicciones del modelo y las mediciones de las variables de estado después de la estimación de los parámetros.AbstractThe goal of the current research was to study the behavior of the fermentation process of home-made beer using a mathematical dynamic model. The model contains the rates of change of the concentration state variables of glucose, maltose and maltotriose. An output variable is the ethanol concentration and an auxiliary variable is the biomass (yeast) concentration. The model was programmed in the Matlab-Simulink environment, and for its numerical integration Dormand-Prince method of fourth order with a variable integration step size and a relative tolerance of 10−8 was used. In order to know which model parameters are more important, a local sensitivity analysis was carried out. Furthermore, an experiment was performed to produce home-made beer at constant temperature (21°C). Fourteen experimental units (fermenters) with the same initial conditions were implemented. Using the experimental results the model was calibrated by nonlinear least squares and differential evolution algorithms. According to the statistics bias (BIAS), correlation coefficient (r), squared root of mean squared error (RMSE), mean absolute error (MAE) and the efficiency of modeling (EF), a good fit between the model predictions and measurements were found after the model parameters estimation.
- Full Text
- View/download PDF
469. Design of a comprehensive Alzheimer’s disease clinic and research center in Spain to meet critical patient and family needs
- Author
-
Mercè, Boada, Lluís, Tárraga, Isabel, Hernández, Sergi, Valero, Montserrat, Alegret, Agustín, Ruiz, Oscar L, Lopez, and James T, Becker
- Subjects
Gerontology ,Male ,Epidemiology ,Population ,Psychological intervention ,Clinical Neurology ,Natural history ,Context (language use) ,Disease ,Ambulatory Care Facilities ,Article ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Alzheimer Disease ,medicine ,Dementia ,Humans ,Cognitive Dysfunction ,education ,Aged ,education.field_of_study ,business.industry ,Health Policy ,medicine.disease ,Psychiatry and Mental health ,Clinical research ,Spain ,Female ,Neurology (clinical) ,Alzheimer's disease ,Geriatrics and Gerontology ,business ,Educational program ,Delivery of Health Care ,Alzheimer’s disease - Abstract
Objectives Alzheimer's disease (AD) affects people worldwide, and the prevalence is increasing as the population ages. There is an international effort to understand the biology of AD to develop primary and secondary prevention strategies, and to develop effective therapeutic interventions for individuals who are already symptomatic. One of the critically important pieces of all national plans to address AD is the call for the development of service models to deliver quality, effective care based on the best evidence available. Methods We describe one type of care model developed by the Fundacio ACE, Institut Catala de Neurociencies Aplicades (Fundacio ACE, Barcelona, Spain) that integrates diagnosis, therapy, follow-up care, daycare, and a day hospital, and does so in the context of an active clinical research and educational program. Results There were 13,048 individuals newly evaluated and diagnosed in Fundacio ACE between 1996 and 2011. Of these, 6132 had AD (47.0%), 3871 had mild cognitive impairment (MCI) (29.7%), and 1958 had no cognitive impairment (15.0%). Follow-up information is available on 4735 (47.3%) AD and MCI patients, and these data indicate that MCI develops into dementia at a rate of 222.6/1000 person-years. Apolipoprotein E (APOE) genotyping was available in 22.4% of the patients. The e4 allele occurred in 45.7% of the AD patients, in 37.8% of the MCI subjects, and in 31.6% of those without cognitive impairment. Conclusions Fundacio ACE can serve as a model system that can be adapted to other settings within their specific cultural, governmental, and legal constraints.
- Full Text
- View/download PDF
470. A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters
- Author
-
Salud Borrego, Guillermo Antiñolo, Irene Marcos, and Agustín Ruiz
- Subjects
Male ,Genotype ,genetic structures ,Locus (genetics) ,Genes, Recessive ,Biology ,GABA (see “Gamma-aminobutyric acid”) receptors ,Gamma-aminobutyric acid receptors ,Gene mapping ,Receptors, GABA ,Homozygosity mapping ,Retinitis pigmentosa ,Genetics ,medicine ,Humans ,Genetics(clinical) ,Allele ,Receptor ,Gene ,Genetics (clinical) ,Genetic heterogeneity ,Linkage ,Homozygote ,Chromosome Mapping ,Disease gene identification ,medicine.disease ,eye diseases ,Autosomal recessive inheritance ,Pedigree ,Multigene Family ,Female ,Lod Score ,Research Article ,Chromosomes, Human, Pair 8 - Abstract
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, with extensive allelic and nonallelic genetic heterogeneity. Autosomal recessive RP (arRP) is the most common form of RP worldwide, with at least nine loci known and accountable for approximately 10%-15% of all cases. Gamma-aminobutyric acid (GABA) is the major inhibitory transmitter in the CNS. Different GABA receptors are expressed in all retinal layers, and inhibition mediated by GABA receptors in the human retina could be related to RP. We have selected chromosomal regions containing genes that encode the different subunits of the GABA receptors, for homozygosity mapping in inbred families affected by arRP. We identify a new locus for arRP, on chromosome 6, between markers D6S257 and D6S1644. Our data suggest that 10%-20% of Spanish families affected by typical arRP could have linkage to this new locus. This region contains subunits GABRR1 and GABRR2 of the GABA-C receptor, which is the effector of lateral inhibition at the retina.
- Full Text
- View/download PDF
471. O5‐04‐01: A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE.
- Author
-
Van der Lee, Sven J., Jansen, Iris E., Pletnikova, Olga, Blauwendraat, Cornelis, Hulsman, Marc, Dalmasso, Maria Carolina, Kawalia, Amit, Ramirez, Alfredo, Van der Flier, Wiesje M., Scheltens, Philip, Reinders, Marcel JT., Hernandez, Isabel, Lleó, Alberto, Fortea, Juan, Stringa, Najada, Ruiz, Agustín Ruiz, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Clarimon, Jordi, and Lage, Carmen
- Published
- 2018
- Full Text
- View/download PDF
472. Is the retrieval of high numbers of oocytes desirable in patients treated with gonadotrophin-releasing hormone analogues (GnRHa) and gonadotrophins?
- Author
-
M. Ruiz, C. Calatayud, Juan J. Tarín, Antonio Pellicer, Agustín Ruiz, F. Miro, Fernando Bonilla-Musoles, and R.M. Castellvi
- Subjects
Adult ,endocrine system ,medicine.medical_specialty ,Menotropins ,medicine.drug_class ,Fertilization in Vitro ,Buserelin ,Follicle-stimulating hormone ,Ovarian Follicle ,Internal medicine ,Follicular phase ,medicine ,Humans ,Embryo Implantation ,Retrospective Studies ,Estradiol ,business.industry ,Rehabilitation ,Obstetrics and Gynecology ,Oocyte ,Embryo Transfer ,Pregnancy rate ,Endocrinology ,medicine.anatomical_structure ,Reproductive Medicine ,Fertilization ,Oocytes ,Hormone analog ,Female ,Gonadotropin ,Follicle Stimulating Hormone ,business ,Pituitary Hormone-Releasing Hormones ,Gonadotropins ,medicine.drug - Abstract
Continuous administration of gonadotrophin-releasing hormone analogues (GnRHa) in patients stimulated for the purpose of IVF might have a direct effect on the ovary. We have evaluated the IVF outcome of patients treated with Buserelin and subsequently with a combination of follicle-stimulating hormone (FSH) and human menopausal gonadotrophin (HMG). Patients were divided into three groups according to the number of oocytes obtained by transvaginal ultrasound-guided follicular aspiration: group 1 (n = 35), in which 1-5 oocytes were retrieved; group 2 (n = 30), in whom 6-10 oocytes were obtained; group 3 (n = 32), in whom greater than or equal to 11 oocytes were collected. Only couples with normal semen samples at oocyte retrieval were included in this study. The dose of Buserelin employed was not different between groups. However, the amount of FSH/HMG necessary to reach an optimal response significantly (P less than 0.01) decreased as follicular development increased. The quality of the oocytes obtained was evaluated based on the appearance of the oocyte-corona-cumulus complex, fertilization rate, morphological appearance of the embryos, and implantation rate. The fertilization rate was significantly (P less than 0.01) decreased in group 3 (57.2%) in comparison with groups 1 (77.1%) and 2 (74.2%). There was no significant difference between the groups in the quality of the embryos obtained or the quality of those replaced into the uterus. The implantation rate per embryo transferred was significantly (P less than 0.05) higher in group 1 (16.5%) in comparison with groups 2 (6.6%) and 3 (8.2%).(ABSTRACT TRUNCATED AT 250 WORDS)
- Published
- 1989
473. Detection of nucleotide c985 A-->G mutation of medium-chain acyl-CoA dehydrogenase gene by real-time PCR
- Author
-
Antonio Caruz, Agustín Ruiz, Mercedes Olivera, Fidel Gayoso, Antonio J. Gayoso, and Luis Miguel Real
- Subjects
Genetics ,Mutation ,Transition (genetics) ,biology ,Biochemistry (medical) ,Clinical Biochemistry ,nutritional and metabolic diseases ,Acyl CoA dehydrogenase ,medicine.disease_cause ,Polymerase Chain Reaction ,Sudden death ,Acyl-CoA Dehydrogenase ,Real-time polymerase chain reaction ,Acyl-CoA Dehydrogenases ,Amino Acid Substitution ,biology.protein ,medicine ,Humans ,Allele ,Gene ,Beta oxidation - Abstract
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common hereditary defect of fatty acid oxidation in humans. This deficiency is an autosomal recessive disorder clinically characterized by episodic hypoglycemia, encephalopathy, apnea, and sudden death among children (1). A single A-to-G nucleotide transition at position 985 (nt c985 A→G) of the MCAD gene represents >81% of alleles causing MCAD deficiency (2). The frequency of this allele variant exhibits considerable geographical variation with a high prevalence in Northern Europeans (3). PCR-based technologies are now widely used for the identification of the nt c985 A→G mutation for the MCAD deficiency (4)(5); however, they involve multiple steps and are time-consuming. We used …
474. El principio de legalidad penal en la Historia Constitucional española
- Author
-
Agustín Ruiz Robledo
- Subjects
udcdata.info/021523 [http] ,Sociology and Political Science ,Derecho ,Political science ,lcsh:K1-7720 ,lcsh:Law in general. Comparative and uniform law. Jurisprudence ,lcsh:KJ-KKZ ,Law ,lcsh:Law of Europe
475. Evaluación genética de variables de crecimiento en bovinos tropicarne: I. Selección de modelos
- Author
-
Joel Domínguez-Viveros, Rodolfo Ramírez Valverde, Agustín Ruiz Flores, and Rafael Núñez Domínguez
- Subjects
valor genético ,crecimiento ,parámetros genéticos ,Agrociencias ,selección de modelos ,Bovinos Tropicarne - Abstract
Los objetivos de esta investigación fueron determinar los modelos más apropiados para la evaluación genética de variables de crecimiento de bovinos Tropicarne, y su impacto en la estimación de parámetros genéticos y la jerarquización de sementales. Las variables evaluadas (n=1141 a 1523) fueron los pesos al nacimiento (PN), al destete (PD), al año (PA) y a los 18 meses (P18M), y las ganancias de peso del destete al año (GDA) y del destete a los 18 meses de edad (GD18M), en bovinos nacidos de 1977 a 1998. La selección del modelo se inició con un modelo animal univariado completo, que incluyó los efectos fijos de rancho-año-estación-sexo, y las covariables edad de la vaca, proporción de genes Tropicarne, y PD para GDA y GD18M; y como aleatorios los efectos genéticos directo y materno, la covarianza entre éstos y el ambiente permanente de la vaca. Posteriormente, se suprimió uno de estos efectos a la vez, finalizando con el modelo que sólo incluyó el efecto genético directo. La comparación de modelos se realizó con la prueba de proporción de verosimilitudes. Adicionalmente, se compararon los parámetros genéticos obtenidos con los modelos y se estimaron los coeficientes de correlación de rango (r) Spearman entre los valores genéticos de los sementales, predichos con el modelo completo y los otros modelos evaluados. El mejor modelo dependió de la variable en estudio. Los mejores modelos consideraron los efectos genéticos directo y materno para PN, PD y PA, más la covarianza entre éstos para PN; para GDA y GD18M incluyó sólo el efecto genético directo, y para P18M el efecto genético directo más el de ambiente permanente de la vaca. Las diferencias en los estimadores de los parámetros genéticos utilizando los diferentes modelos, podrían resultar en cambios en la jerarquización de los animales. Los valores de r entre los valores genéticos predichos con el modelo completo y el seleccionado variaron de 0.95 a 0.99. Se recomienda seleccionar el modelo más adecuado previamente a la evaluación genética de los bovinos.
476. COMPARACIÓN DE ECUACIONES PARA AJUSTAR CURVAS DE LACTANCIA EN BOVINOS
- Author
-
Rufino López-Ordaz, Enrique Genaro Martínez-González, José Guadalupe García-Muñiz, Rafael Núñez-Domínguez, Rodolfo Ramírez-Valverde, and Agustín Ruiz-Flores
- Subjects
brown swiss ,Curvas de lactancia ,Lactation curves ,producción de leche ,Bos indicus ,milk production ,Veterinaria ,suizo americano ,Bos taurus - Abstract
El objetivo fue evaluar la bondad de ajuste de 16 ecuaciones para ajustar curvas de lactancia en seis genotipos bovinos. Se analizaron registros semanales o mensuales de producción de leche de vacas Pardo Suizo Americano (n=826 lactancias), Bos indicus (BI, n=52), ¾BI¼Bos taurus (BT, n=507), ½BI½BT (n=462), BIBT (n=167) y ¼BI¾BT (n=62). Los parámetros de las ecuaciones se estimaron, para cada lactancia individual, por regresión lineal y no lineal, y las comparaciones se realizaron con base en los cuadrados medios de residuales, mediante la jerarquización dentro de genotipo utilizando la prueba de Suma de Rangos de Friedman. Otros criterios adicionales fueron la proporción de casos con producción de leche diaria anormal y los casos con autocorrelación positiva. Existieron diferencias (P
477. Best Practice Guide for Positive Parenting. A resource for practitioners working with families
- Author
-
Rodrigo, María José, Amorós, Pere, Arranz Freijo, Enrique, Hidalgo García, Ma. Victoria, Máiquez, Ma. Luisa, Martín, Juan Carlos, Martínez González, Raquel-Amaya, Ochaita Alderete, Esperanza, Balsells, M. Àngels, Fuentes-Peláez, Núria, Mateos Inchaurrondo, Ainoa, Molina, M. Cruz (María Cruz), Pastor Vicente, Crescencia, Espinosa Bayal, María Ángeles, Agustín Ruiz, Santiago, Gutiérrez Rodríguez, Héctor, Becedóniz Vázquez, Carlos, Pérez Herrero, María del Henar, Rodríguez Ruiz, Beatriz, Iglesias García, María Teresa, Olabarrieta Artetxe, Fernando, Manzano Fernández, Ainhoa, Martín Ayala, Juan Luis, Jiménez García, Lucía, Lorence Lara, Bárbara, Menéndez Álvarez-Dardet, Susana, Sánchez Hidalgo, José, Federación Española de Municipios y Provincias, and Ministerio de Sanidad, Servicios Sociales e Igualdad
- Subjects
Pares i fills ,Parent and child ,Relacions familiars ,Family relationships - Abstract
[spa] El modo en que se concibe el ejercicio de la parentalidad ha cambiado sustancialmente en nuestra sociedad. Ello no sólo se debe a la gran variedad de formas familiares y diversidad de culturas que conviven actualmente en su seno, sino también a un cambio conceptual que afecta al núcleo básico de la tarea parental. Nos referimos a la necesidad de sustituir el concepto de autoridad parental, centrado únicamente en la necesidad de lograr metas de obediencia y disciplina en los hijos e hijas, por otro más complejo y demandante como es el concepto de responsabilidad parental. Según este concepto, la cuestión clave no es si las figuras parentales deben ejercer la autoridad para que sus hijos/as les obedezcan, sino cómo ejercerla de modo responsable para que se preserven los derechos de los mismos, sin menoscabar los de padres y madres, y se fomenten sus capacidades críticas y de participación en el proceso de socialización, al mismo tiempo que se promueve progresivamente su autonomía y contribución a la vida comunitaria. Ante este cambio cualitativo en la manera de entender las responsabilidades parentales, se alzan muchas voces de desánimo entre los propios padres y madres, quienes en ocasiones se ven impotentes en su tarea al no saber cómo actuar para lograr metas educativas tan complejas y sentir, al mismo tiempo, que están perdiendo capacidades de control sobre sus hijos e hijas. En otras ocasiones, el desánimo y el estrés ante la tarea parental no surge por no saber llevarla a cabo sino por no poder hacerlo adecuadamente debido a la situación de la persona que educa en solitario o en pareja sin contar con redes de apoyo apropiadas. Esto crea situaciones límite que repercuten negativamente en todos y cada uno de los miembros de la familia, especialmente en los más vulnerables., [eng] Our conception of what parenting should look like has changed considerably in our society. This is due not only to the large variety of family structures and the diversity of cultures that currently co-exist in our society, but also to a shift in mindset that touches the very heart of the parenting task. This can be expressed as the need to replace the concept of parental authority, which focuses solely on meeting aims related to the child’s obedience and discipline, with the much more complex and demanding concept of parental responsibility. Here, the key question is not whether the parent figure should exert the necessary authority to ensure a child’s obedience. Rather, it is about how this authority can be exerted responsibly in a way that protects the child’s rights - without of course neglecting the mother’s and father’s rights - and that fosters the child’s skills in critical thinking and participation in the socialisation process, while at the same time progressively fostering the child’s autonomy and contribution to community life. There has been much concern expressed in response to this qualitative shift in how a parent’s responsibilities are viewed, including amongst mothers and fathers themselves. Parents often feel powerless to act, as they do not know how to achieve such complex parenting goals, and feel like they are losing control over their children. Other times, feelings of discouragement and stress arise not because parents do not how to go about the task of parenting, but rather because they find themselves unable to do so, as may be the case for single parents or couples raising children without the necessary support networks. This can lead to extreme situations which can have a negative impact on the entire family, and especially its most vulnerable members.
478. Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa
- Author
-
Salud Borrego, Beatriz Sánchez, Guillermo Antiñolo, and Agustín Ruiz
- Subjects
Genetics ,Rhodopsin ,Base Sequence ,Molecular Sequence Data ,Rhodopsin Gene ,Biology ,medicine.disease ,Autosomal dominant retinitis pigmentosa ,Locus heterogeneity ,medicine ,Humans ,Point Mutation ,Missense mutation ,Codon ,Polymorphism, Single-Stranded Conformational ,Retinitis Pigmentosa ,Genetics (clinical) ,Genes, Dominant
479. Association of NOS3 gene with metabolic syndrome in hypertensive patients
- Author
-
Maria Angeles Gonzalez, Carmen Couto, Grilo A, Reyes Gutierrez-Tous, Rivera Jm, Rocío Ruiz, María L. Canales Fernández, Luis Miguel Real, Antonio Ramos, Agustín Ruiz, and Reposo Ramírez-Lorca
- Subjects
Male ,medicine.medical_specialty ,Genotype ,Nitric Oxide Synthase Type III ,Linkage Disequilibrium ,Insulin resistance ,Polymorphism (computer science) ,Internal medicine ,Odds Ratio ,medicine ,Humans ,Genetic Predisposition to Disease ,Endothelial dysfunction ,Allele frequency ,Genotyping ,Alleles ,Metabolic Syndrome ,Genetics ,Polymorphism, Genetic ,business.industry ,Homozygote ,Hypertriglyceridemia ,DNA ,Exons ,Hematology ,medicine.disease ,Phenotype ,Endocrinology ,Haplotypes ,Hypertension ,Female ,Insulin Resistance ,Nitric Oxide Synthase ,Metabolic syndrome ,business - Abstract
SummaryRecent data from animal models indicate that the eNOS null mice present a phenotype that resemble the human metabolic syndrome (hypertension, insulin resistance and hypertriglyceridemia). In this work, we have studied whether NOS3 gene, previously related to endothelial dysfunction, might have a role in metabolic syndrome susceptibility in hypertensive patients. To carry out the study, we genotyped 105 hypertensive patients ≤ 60 years old with two polymorphisms of NOS3 gene: 1132 T>C and 7164 G>T (GeneBank:AF519768.1).To check the allelic frequency of these polymorphisms in our geographical area, we also genotyped 94 unselected healthy controls (control group). To perform sample genotyping, we designed a novel FRET system coupled to real time PCR. There were no differences in genotypic distribution or allelic frequency between hypertensive patients and the control group. However, we observed that 786CC genotype was significantly more frequent in hypertensive patients with metabolic syndrome than in those without the syndrome (p=0.0022). When both polymorphisms were analyzed, we identified the 786C894G as the risk haplotype for metabolic syndrome susceptibility (p=0.011). These data suggest a role of the NOS3 gene in the pathogenesis of metabolic syndrome in hypertensive patients.
480. Practica de missiones, remedio de pecadores : sacado de la escritura diuina y de la enseñanza apostolica : aplicado en el exercicio de vna mission ...
- Author
-
Ruíz de Valdivielso, Agustín, Viuda de, imp, Carabantes, José de O.F.M. Cap, 1628-1694, Viuda de Agustín Ruiz de Valdivielso, Ruíz de Valdivielso, Agustín, Viuda de, imp, Carabantes, José de O.F.M. Cap, 1628-1694, and Viuda de Agustín Ruiz de Valdivielso
- Abstract
Sign. : ¶-2¶\p8\s, A-Z\p8\s, 2A-2P\p8\s, 2Q\p6\s, Texto a dos col, Antep, La h. de grab. xil., representa a la Virgen, en sign. ¶\b3\s
481. Practica de missiones, remedio de pecadores : sacada de la escritura divina, y de la enseñanza apostolica : aplicado en el exercicio de una mission...
- Author
-
Ruiz de Valdivieso, Agustín de, Viuda de, imp, Carabantes, José de O.F.M. Cap, 1628-1694, Viuda de Agustín Ruiz de Valdivielso, Ruiz de Valdivieso, Agustín de, Viuda de, imp, Carabantes, José de O.F.M. Cap, 1628-1694, and Viuda de Agustín Ruiz de Valdivielso
- Abstract
Colofón, Sign.: [calderón]\p8\s, 2 [calderón]\p4\s, 2*\p4\s, A-B\p4\s, C-Z\p8\s, 2A-2Q\p8\s, 2R\p2\s, *\p4\s, 2*\p8\s, Texto a dos col, Antep, La h. de grab. xil., representa una imagen de la Virgen
482. Comparison of experimental measurements and fast Monte Carlo simulations for typical set-ups in fluoroscopically-guided interventional procedures.
- Author
-
Balcaza, V. García, Pagès, Marta Barceló, Martínez, Agustín Ruiz, Camp, Anna, Ginjaume, Mercè, and Duch, María Amor
- Subjects
- *
MONTE Carlo method , *IMAGING phantoms , *RADIATION dosimetry , *TRACKING algorithms , *MEDICAL personnel , *INTERVENTIONAL radiology , *DOSIMETERS - Abstract
PyMCGPU-IR is an application based on the Monte Carlo code MCGPU-IR that automatically retrieves procedure information from X-ray systems and medical worker positions from a tracking camera system. PyMCGPU-IR calculates personal dose equivalent values, doses in organs and effective dose values for both patient and medical staff in interventional radiology procedures and displays them visually. The code's main advantage lies in its time efficiency, enabling simulations in under 2 min with statistical uncertainties below 5% (k = 2). This study involved testing in a hospital room using an interventional X-ray system. A RANDO phantom simulated the patient, with passive dosimeters affixed to the back for measuring skin dose values. A PMMA slab phantom represented the operator, with passive and active dosimeters affixed to its front surface to measure H p (10). The irradiation conditions were simulated with PyMCGPU-IR using voxelized geometries to represent both phantoms. Results demonstrate good agreement between PyMCGPU-IR simulations and measured patient skin dose values, with differences of up to 5% for mean skin dose and up to 14% for the peak skin dose. Concerning H p (10) values on the operator phantom, PyMCGPU-IR calculated values fall within the uncertainty ranges of dosimeter measurements for most points. The highest H p (10) discrepancy is 42%, which is acceptable when compared with the typical variability observed between active and passive personal dosimeters measurements in interventional radiology. The results demonstrate PyMCGPU-IR's satisfactory performance for patient and personal dosimetry, compared to existing solutions like commercial skin dose calculation software and personal physical dosimeters. • Computational dosimetry for radiation exposure in patients and medical staff during medical interventions. • Monte Carlo methods for radiation modelling, calculating equivalent, organ and effective doses in medical scenarios. • Improve time efficiency in Monte Carlo simulations using GPUs. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
483. Thalamic tumors in children: case series from our institution and literature review.
- Author
-
Renedo, Daniela, Ferraro, Florencia, Johnson, Agustín Ruiz, Argañaraz, Romina, Giovannini, Sebastian, Zabala, Joaquín Pérez, Zemma, Elena, and Mantese, Beatriz
- Subjects
- *
TUMORS in children , *CEREBROSPINAL fluid shunts , *TUMOR grading , *OPERATIVE surgery - Abstract
Purpose: To describe a case series of children with thalamic tumors treated at our institution in a 5-year period. Method: A retrospective and observational study was performed. The records of 15 patients between 2013 and 2018 were analyzed. Results: From 2013 to 2018, 15 patients were treated at our institution. The male to female index was 1.5, and the median age was 8.9 (IQR 4.75–13). Seven (46%) tumors were left-sided, seven (46%) were right-sided, and one (6%) was bilateral. All patients were symptomatic at the time of treatment. Motor deficit was the most common form of presentation (73%). Gross-total resection was performed in two (13.3%) patients, subtotal resection was performed in two other patients (13.3%), and for the rest of the patients (73.3%), the chosen surgical approach was a stereotactic-guided biopsy. The average of procedures was 3.4, mostly related to the treatment for hydrocephalus. Twelve patients (80%) received treatment for hydrocephalus. Nine patients (75%) were treated with ventriculoperitoneal shunts, and four patients (33%) underwent endoscopic third ventriculostomy. High-grade tumors predominated. Grade IV tumors were diagnosed in six patients (40%), followed by grade III in four patients (26.6%), grade II in three (20%) patients, and grade I in two (13.3%) patients. Chemotherapy was given in 93% of the cases, being temozolomide, the most used drug. Conclusion: The clinical and surgical approaches for thalamic tumors in children have changed over time. At our institution, the lesser invasive surgical procedures are now being used more frequently. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
484. An entropy test for single-locus genetic association analysis
- Author
-
José Antonio García Córdoba, Agustín Ruiz, Mariano Matilla-García, Javier Gayán, Alejandro Romo-Astorga, Manuel Ruiz-Marín, Juan Luis Susillo-González, and Antonio González-Pérez
- Subjects
Genetics ,Models, Statistical ,lcsh:QH426-470 ,Models, Genetic ,Entropy ,Genome-wide association study ,Biology ,Methodology article ,Polymorphism, Single Nucleotide ,Minor allele frequency ,lcsh:Genetics ,Exact test ,symbols.namesake ,Gene Frequency ,Test statistic ,symbols ,Humans ,Entropy (information theory) ,Genetics(clinical) ,Genetics (clinical) ,Fisher's exact test ,Genome-Wide Association Study ,Statistical hypothesis testing ,Type I and type II errors - Abstract
Background The etiology of complex diseases is due to the combination of genetic and environmental factors, usually many of them, and each with a small effect. The identification of these small-effect contributing factors is still a demanding task. Clearly, there is a need for more powerful tests of genetic association, and especially for the identification of rare effects Results We introduce a new genetic association test based on symbolic dynamics and symbolic entropy. Using a freely available software, we have applied this entropy test, and a conventional test, to simulated and real datasets, to illustrate the method and estimate type I error and power. We have also compared this new entropy test to the Fisher exact test for assessment of association with low-frequency SNPs. The entropy test is generally more powerful than the conventional test, and can be significantly more powerful when the genotypic test is applied to low allele-frequency markers. We have also shown that both the Fisher and Entropy methods are optimal to test for association with low-frequency SNPs (MAF around 1-5%), and both are conservative for very rare SNPs (MAF Conclusions We have developed a new, simple, consistent and powerful test to detect genetic association of biallelic/SNP markers in case-control data, by using symbolic dynamics and symbolic entropy as a measure of gene dependence. We also provide a standard asymptotic distribution of this test statistic. Given that the test is based on entropy measures, it avoids smoothed nonparametric estimation. The entropy test is generally as good or even more powerful than the conventional and Fisher tests. Furthermore, the entropy test is more computationally efficient than the Fisher's Exact test, especially for large number of markers. Therefore, this entropy-based test has the advantage of being optimal for most SNPs, regardless of their allele frequency (Minor Allele Frequency (MAF) between 1-50%). This property is quite beneficial, since many researchers tend to discard low allele-frequency SNPs from their analysis. Now they can apply the same statistical test of association to all SNPs in a single analysis., which can be especially helpful to detect rare effects.
- Full Text
- View/download PDF
485. Interaction between Calpain-5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity
- Author
-
Grilo A, Agustín Ruiz, Reposo Ramírez-Lorca, María Teresa Martínez-Larrad, María Eugenia Sáez, Manuel Serrano-Ríos, Francisco J. Morón, Javier Serrano-Hernando, Luis Manzano, and Antonio González-Pérez
- Subjects
medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Genotype ,Endocrinology, Diabetes and Metabolism ,Peroxisome proliferator-activated receptor ,Context (language use) ,complex mixtures ,Gene Frequency ,Internal medicine ,medicine ,Humans ,Obesity ,PPAR delta ,Gene ,Original Investigation ,chemistry.chemical_classification ,Polymorphism, Genetic ,biology ,Calpain ,business.industry ,equipment and supplies ,medicine.disease ,PPAR gamma ,Cross-Sectional Studies ,Endocrinology ,chemistry ,lcsh:RC666-701 ,biology.protein ,Cancer research ,bacteria ,Peroxisome proliferator-activated receptor delta ,business ,Cardiology and Cardiovascular Medicine - Abstract
Context Obesity is a multifactorial disorder, that is, a disease determined by the combined effect of genes and environment. In this context, polygenic approaches are needed. Objective To investigate the possibility of the existence of a crosstalk between the CALPAIN 10 homologue CALPAIN 5 and nuclear receptors of the peroxisome proliferator-activated receptors family. Design Cross-sectional, genetic association study and gene-gene interaction analysis. Subjects The study sample comprise 1953 individuals, 725 obese (defined as body mass index ≥ 30) and 1228 non obese subjects. Results In the monogenic analysis, only the peroxisome proliferator-activated receptor delta (PPARD) gene was associated with obesity (OR = 1.43 [1.04–1.97], p = 0.027). In addition, we have found a significant interaction between CAPN5 and PPARD genes (p = 0.038) that reduces the risk for obesity in a 55%. Conclusion Our results suggest that CAPN5 and PPARD gene products may also interact in vivo.
- Full Text
- View/download PDF
486. Implementación de las políticas públicas en educación y tecnologías de la información y las comunicaciones de cinco colegios oficiales de media vocacional de jornada única del departamento del Atlántico-Colombia
- Author
-
Castellar Paternina, Everly, Universidad Autónoma de Madrid. Facultad de Formación de Profesorado y Educación, Departamento de Didáctica y Teoría de la Educación, calle Francisco Tomás y Valiente 3, 28049 Madrid, Tel. +34914974493, Fernández Prieto, Manuel Santiago, Agustín Ruiz, Santiago, Fernández Prieto, Manuel Santiago (dir.), Agustín Ruíz, Santiago (dir.), UAM. Departamento de Didáctica y Teoría de la Educación, and Agustín Ruíz, Santiago
- Subjects
tecnología de la información ,política de la educación ,Colombia - Políticas públicas ,Educación ,Tecnoligía de las comunicaciones - Enseñanza - Tesis doctorales ,Colombia - Política educativa ,Política pública - Educación - Tesis doctorales ,Educación - Tesis doctorales ,Colombia ,calidad de la enseñanza ,Centros docentes - Colombia - Tesis doctorales ,Tecnología de la información - Ensñanza - Tesis doctorales - Abstract
Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Formación de Profesorado y Educación. Departamento de Didáctica y Teoría de la Educación. Fecha de lectura: 20-12-2017, La mayoría de los países han establecido una serie de políticas públicas tendientes a lograr una mejora en el ámbito educativo, por tanto, esta investigación tiene como finalidad examinar desde un método cualitativo las gestiones del gobierno colombiano en las instituciones educativas oficiales a nivel secundario y determinar si la implementación de estas son elementos claves para conseguir una buena formación en competencias digitales, para mejorar la calidad educativa y promover la inclusión en las aulas, para esto, se planteó como objetivo caracterizar la implementación, los efectos (eficacia) y alcances de estas políticas en la calidad de la Educación y TIC a través de las percepciones de 500 estudiantes y 5 rectores; y nivel de satisfacción de 7 coordinadores. Para la muestra se utilizaron 2 modelos de encuestas y una de entrevista cualitativa semiestructurada AdHoc. Posteriormente se hizo un análisis estadístico con el programa SPSS y la rejilla categoría de datos emergentes. Al realizar el cruce de categorías y subcategorías, revisar los niveles de significación y construir una triangulación, se concluyó que existe una considerada incidencia de la implementación de las políticas en la educación y que los participantes perciben las políticas como relevantes pero sin repercusiones contundentes. Asimismo, se determinó que los avances en los colegios no han sido muy notorios ni dentro ni fuera de las aulas. Se recomienda que el diseño, implementación y seguimiento de las políticas se basen en realidades existentes y no en una planificación alejada del entorno educativo.
- Published
- 2017
487. Evaluation of the Feasibility, Safety and Efficacy of the Use of Intravenous Infusions of Adenosine Triphosphate (ATP) in People Affected by Moderate to Severe Alzheimer's Disease: A Double-Blind Masked Clinical Trial for Dose Finding.
- Author
-
Ruiz A, Sánchez D, Lafuente A, Ortega G, Buendía M, Papasey J, Jimeno SY, Badia FP, Palacio ME, Abdelnour C, Ramírez-Toraño F, Maestú F, Sáez ME, Tárraga L, Dagnelie PC, and Boada M
- Subjects
- Adenosine Triphosphate therapeutic use, Double-Blind Method, Feasibility Studies, Humans, Infusions, Intravenous, Alzheimer Disease drug therapy
- Abstract
Background: There are currently no drug therapies modifying the natural history of patients suffering Alzheimer's disease (AD). Most recent clinical trials in the field include only subjects in early stage of the disease, while patients with advanced AD are usually not represented., Objectives: To evaluate the feasibility, safety and efficacy of systemic infusions of adenosine triphosphate (ATP) in patients with moderate to severe AD, and to select the minimum effective dose of infusion., Design: A phase IIb, randomized, double-blind, placebo-controlled clinical trial investigates., Participants: A total of 20 subjects with moderate or severe AD were included, 16 in the treatment group and 4 in the placebo group (4:1 randomization) at two dosage regimens, 6-hour or 24-hour infusions., Results: The proof-of-concept study was successfully conducted, with no significant deviations from the study protocol and no serious adverse events reported. Regarding efficacy, only marginal differences were observed between ATP and placebo arms for H-MRS and MMSE variables., Conclusions: Our study demonstrates that the use of ATP infusion as therapy is feasible and safe. Larger studies are however needed to assess the efficacy of ATP in moderate to severe AD., Competing Interests: The authors declare that they have no competing interests related to this manuscript. AR is member of the Scientific Advisory Board of Landsteiner Genmed and AMBAR program (Grifols). MES is member of the Scientific Advisory Board of Landsteiner Genmed.
- Published
- 2022
- Full Text
- View/download PDF
488. C9orf72 , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
- Author
-
Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M, Alvarez I, Alvarez V, Andreassen O, Anfossi M, Bagnoli S, Benussi L, Bernardi L, Binetti G, Blackburn D, Boada M, Borroni B, Bowns L, Bråthen G, Bruni AC, Chiang HH, Clarimon J, Colville S, Conidi ME, Cope TE, Cruchaga C, Cupidi C, Di Battista ME, Diehl-Schmid J, Diez-Fairen M, Dols-Icardo O, Durante E, Flisar D, Frangipane F, Galimberti D, Gallo M, Gallucci M, Ghidoni R, Graff C, Grafman JH, Grossman M, Hardy J, Hernández I, Holloway GJT, Huey ED, Illán-Gala I, Karydas A, Khoshnood B, Kramberger MG, Kristiansen M, Lewis PA, Lleó A, Madhan GK, Maletta R, Maver A, Menendez-Gonzalez M, Milan G, Miller B, Mol MO, Momeni P, Moreno-Grau S, Morris CM, Nacmias B, Nilsson C, Novelli V, Öijerstedt L, Padovani A, Pal S, Panchbhaya Y, Pastor P, Peterlin B, Piaceri I, Pickering-Brown S, Pijnenburg YAL, Puca AA, Rainero I, Rendina A, Richardson AMT, Rogaeva E, Rogelj B, Rollinson S, Rossi G, Rossmeier C, Rowe JB, Rubino E, Ruiz A, Sanchez-Valle R, Sando SB, Santillo AF, Saxon J, Scarpini E, Serpente M, Smirne N, Sorbi S, Suh E, Tagliavini F, Thompson JC, Trojanowski JQ, Van Deerlin VM, Van der Zee J, Van Broeckhoven C, van Rooij J, Van Swieten JC, Veronesi A, Vitale E, Waldö ML, Woodward C, Yokoyama J, Escott-Price V, Polke JM, and Ferrari R
- Subjects
- Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive physiopathology, Cohort Studies, DNA Repeat Expansion, Europe, Female, Frontotemporal Dementia genetics, Frontotemporal Dementia physiopathology, Frontotemporal Lobar Degeneration physiopathology, Geography, Humans, Male, Mediterranean Region, Middle Aged, Principal Component Analysis, Scandinavian and Nordic Countries, Syndrome, Aphasia, Primary Progressive genetics, C9orf72 Protein genetics, Frontotemporal Lobar Degeneration genetics
- Abstract
Objective: We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases., Methods: We evaluated expansions frequency in the entire cohort (n = 1,396; behavioral variant frontotemporal dementia [bvFTD] [n = 800], primary progressive aphasia [PPA] [n = 495], and FTLD-motor neuron disease [MND] [n = 101]). We then focused on the bvFTD and PPA cases and tested for association between expansion status, syndromes, genetic ancestry, and AAO applying statistical tests comprising Fisher exact tests, analysis of variance with Tukey post hoc tests, and logistic and nonlinear mixed-effects model regressions., Results: We found C9orf72 pathogenic expansions in 4% of all cases (56/1,396). Expansion carriers differently distributed across syndromes: 12/101 FTLD-MND (11.9%), 40/800 bvFTD (5%), and 4/495 PPA (0.8%). While addressing population substructure through principal components analysis (PCA), we defined 2 patients groups with Central/Northern (n = 873) and Southern European (n = 523) ancestry. The proportion of expansion carriers was significantly higher in bvFTD compared to PPA (5% vs 0.8% [ p = 2.17 × 10
-5 ; odds ratio (OR) 6.4; confidence interval (CI) 2.31-24.99]), as well as in individuals with Central/Northern European compared to Southern European ancestry (4.4% vs 1.8% [ p = 1.1 × 10-2 ; OR 2.5; CI 1.17-5.99]). Pathogenic expansions and Central/Northern European ancestry independently and inversely correlated with AAO. Our prediction model (based on expansions status, genetic ancestry, and AAO) predicted a diagnosis of bvFTD with 64% accuracy., Conclusions: Our results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral and language variant syndromes., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)- Published
- 2020
- Full Text
- View/download PDF
489. Supplementation with rumen-protected L-arginine-HCl increased fertility in sheep with synchronized estrus.
- Author
-
de Chávez JA, Guzmán A, Zamora-Gutiérrez D, Mendoza GD, Melgoza LM, Montes S, and Rosales-Torres AM
- Subjects
- Animals, Arginine administration & dosage, Dietary Supplements, Estrus drug effects, Female, Ovulation drug effects, Pregnancy, Reproduction drug effects, Sheep, Arginine pharmacology, Estrus Synchronization, Fertility drug effects, Rumen metabolism
- Abstract
The aim of the present study was to evaluate the effects of L-arginine-HCl supplementation on ovulation rate, fertility, prolificacy, and serum VEGF concentrations in ewes with synchronized oestrus. Thirty Suffolk ewes with a mean body weight of 45 ± 3 kg and a mean body condition score (BCS) of 2.4 ± 0.28 were synchronized for estrus presentation with a progestin-containing sponge (20 mg Chronogest® CR) for 9 days plus PGF2-α (Lutalyse; Pfizer, USA) on day 7 after the insertion of the sponge. The ewes were divided into two groups; i.e., a control group (n = 15) that was fed on the native pasture (basal diet) and an L-arginine-HCl group (n = 15) that received 7.8 g of rumen-protected L-arginine-HCl from day 5 of the sponge insertion until day 25 after mating plus the basal diet. The L-arginine-HCl was administered daily via an esophageal probe between days 5 and 9 of the synchronization protocol and every third day subsequently. Blood samples were drawn from the jugular vein every 6 days throughout the entire experimental period. The results revealed that the L-arginine-HCl supplementation increased fertility during the synchronized estrus (P = 0.05). However, no effects were observed on the final BCS (P = 0.78), estrus presentation (P = 0.33), multiple ovulations (P = 0.24), prolificacy (P = 0.63), or serum VEGF concentration. In conclusion, L-arginine-HCl supplementation during the period used in this study increased fertility in sheep with synchronized estrus possibly due to improved embryo-fetal survival during early pregnancy.
- Published
- 2015
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.