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1.
Eye Contact Lens ; 50(8): 333-341, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38865594

RESUMEN

OBJECTIVES: To determine the prevalence of digital eye strain or computer vision syndrome (CVS) and its risk factors in a university population (University of Valladolid, Spain). METHODS: An anonymous cross-sectional online survey was conducted in a university population [staff (lecturers and administrative employees) and students (undergraduate, master's, and PhD)], including two validated questionnaires (Ocular Surface Disease Index [OSDI] and the 17-item Computer-Vision Symptom Scale questionnaire [CVSS17]) and questions about sociodemographic data and visual display terminal use. The prevalence and risk factors for CVS (CVSS17≥29) (multivariate logistic regression model) were calculated. RESULTS: One thousand nine participants responded to the survey (35.2±15.2 years; 64.1% women). The mean OSDI and CVSS17 questionnaire scores were 18.9±15.6 and 31.5±6.4, respectively, and 35.4% of the respondents had dry eye symptoms (OSDI>22). The total prevalence of CVS was 65.4% (95% CI 62.1-68.3). Undergraduate students showed the highest CVS prevalence (72.6%; P <0.01), which was significant. In addition, women, participants younger than 36 years old, contact lens wearers, and subjects with dry eye symptoms reported a statistically higher CVSS17 score ( P ≤0.01). In the multivariate model, significant factors associated with the presence of CVS ( P ≤0.03) were female sex (OR=2.10; 95% CI 1.54-2.88), dry eye symptoms (OSDI>22) (OR=16.98; 95% CI 10.36-27.84), VTD use ≥6 hr daily (OR=1.96; 95% CI 1.09-3.52), and being an undergraduate student (OR=2.23; 95% CI 1.54-3.24). CONCLUSION: A high prevalence (65.4%) of CVS was found among the Spanish university population, with the undergraduate student group having the highest prevalence (72.6%). Female sex, more than 6 hr/day of visual display terminal use, being an undergraduate student, and dry eye symptoms significantly increased the risk of CVS in the university population.


Asunto(s)
Terminales de Computador , Humanos , Femenino , Masculino , España/epidemiología , Prevalencia , Adulto , Estudios Transversales , Factores de Riesgo , Universidades , Adulto Joven , Persona de Mediana Edad , Encuestas y Cuestionarios , Síndromes de Ojo Seco/epidemiología , Síndromes de Ojo Seco/etiología , Adolescente , Astenopía/epidemiología , Astenopía/etiología , Estudiantes/estadística & datos numéricos
2.
Antioxidants (Basel) ; 12(12)2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38136239

RESUMEN

Verticillium wilt of olive (VWO) is one of the most widespread and devastating olive diseases in the world. Harnessing host resistance to the causative agent is considered one of the most important measures within an integrated control strategy of the disease. Aiming to understand the mechanisms underlying olive resistance to VWO, the metabolic profiles of olive leaves, stems and roots from 10 different cultivars with varying levels of susceptibility to this disease were investigated by liquid chromatography coupled to mass spectrometry (LC-MS). The distribution of 56 metabolites among the three olive tissues was quantitatively assessed and the possible relationship between the tissues' metabolic profiles and resistance to VWO was evaluated by applying unsupervised and supervised multivariate analysis. Principal component analysis (PCA) was used to explore the data, and separate clustering of highly resistant and extremely susceptible cultivars was observed. Moreover, partial least squares discriminant analysis (PLS-DA) models were built to differentiate samples of highly resistant, intermediate susceptible/resistant, and extremely susceptible cultivars. Root models showed the lowest classification capability, but metabolites from leaf and stem were able to satisfactorily discriminate samples according to the level of susceptibility. Some typical compositional patterns of highly resistant and extremely susceptible cultivars were described, and some potential resistance/susceptibility metabolic markers were pointed out.

3.
Plants (Basel) ; 12(14)2023 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-37514258

RESUMEN

Rapid apple decline is a phenomenon characterized by a weakening of young apple trees in high density orchards, often followed by their quick collapse. The nature of this phenomenon remains unclear. In this work, we investigated the root system architecture (RSA) of declining and non-declining apple trees in two orchards in New York State. High-density orchard A consisted of 4-year-old 'Honeycrisp' on 'Malling 9 Nic29', and conventional orchard B consisted of 8-year-old 'Fuji' on 'Budagovsky 9'. In both orchards, a negative correlation (-0.4--0.6) was observed between RSA traits and decline symptoms, suggesting that declining trees have weaker root systems. Scion trunk diameter at the graft union, total root length, and the length of fine and coarse roots were significantly (p < 0.05) reduced in declining trees in both orchards. Additionally, internal trunk necrosis at, above, and below the graft union was observed in declining trees in orchard A but not in orchard B. Finally, latent viruses were not associated with decline, as their occurrence was documented in declining and non-declining trees in orchard A, but not in orchard B. Together, these results showed weakened root systems of declining trees, suggesting that these trees may experience deficiencies in water and nutrient uptake, although distinct RSA and trunk health traits between the two orchards were noticeable.

4.
Animals (Basel) ; 13(13)2023 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-37443885

RESUMEN

The studied farms are small family businesses, and so, in more than half of the cases, their continuity is not guaranteed. Livestock management is typical of a mountain system, in which the animals graze throughout the year in cultivated fields, sown meadows, forests near the farms, and mountain pastures during the three summer months. The herds always have the constant surveillance of a shepherd. Farmers consider the current infrastructure present in mountain grasslands insufficient to facilitate the management and care of their herd. Their activity conflicts with various species of wildlife, such as the wild boar, Sus scrofa, roe deer, Capreolus capreolus, or griffon vulture, Gyps fulvus, and large carnivores such as the brown bear, Ursus arctos, or the grey wolf Canis lupus, despite all of them taking preventive measures to defend their herds from predators. The most widely used prevention measures are the presence of mastiff dogs, Canis lupus familiaris, next to the herds and the use of electric fencing to lock up livestock at night. Farmers reject the presence of bears and wolves in their area, considering it a real threat to the continuity of their economic activity, which presents a high degree of vulnerability.

5.
Genes (Basel) ; 15(1)2023 12 19.
Artículo en Inglés | MEDLINE | ID: mdl-38275583

RESUMEN

Transcription is carried out in most eukaryotes by three multimeric complexes (RNA polymerases I, II and III). However, plants contain two additional RNA polymerases (IV and V), which have evolved from RNA polymerase II. RNA polymerases II, IV and V contain both common and specific subunits that may specialise some of their functions. In this study, we conducted a search for the genes that putatively code for the specific subunits of RNA polymerases IV and V, as well as those corresponding to RNA polymerase II in olive trees. Based on the homology with the genes of Arabidopsis thaliana, we identified 13 genes that putatively code for the specific subunits of polymerases IV and V, and 16 genes that code for the corresponding specific subunits of polymerase II in olives. The transcriptomic analysis by RNA-Seq revealed that the expression of the RNA polymerases IV and V genes was induced during the initial stages of fruit development. Given that RNA polymerases IV and V are involved in the transcription of long non-coding RNAs, we investigated their expression and observed relevant changes in the expression of this type of RNAs. Particularly, the expression of the intergenic and intronic long non-coding RNAs tended to increase in the early steps of fruit development, suggesting their potential role in this process. The positive correlation between the expression of RNA polymerases IV and V subunits and the expression of non-coding RNAs supports the hypothesis that RNA polymerases IV and V may play a role in fruit development through the synthesis of this type of RNAs.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Olea , ARN Polimerasa II/genética , Olea/genética , Olea/metabolismo , Proteínas de Arabidopsis/genética , Frutas/genética , Frutas/metabolismo , ARN Polimerasas Dirigidas por ADN/genética , ARN Polimerasas Dirigidas por ADN/metabolismo , Arabidopsis/genética
6.
Plants (Basel) ; 11(14)2022 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-35890425

RESUMEN

Olea europaea subsp. cuspidata has a relatively low commercial value due to the low size and pulp to stone ratio of its drupes compared to commercial olive cultivars. Nevertheless, this subspecies could represent a valid source of useful traits for olive breeding. In the current work, the drupe metabolic composition (secoiridoids, flavonoids, simple phenols, triterpenic acids, etc.) of a progeny of 27 cuspidata genotypes coming from free pollination and their female parent was evaluated by applying a powerful LC-MS method. A total of 62 compounds were detected within the profiles; 60 of them were annotated and 27 quantified. From a quantitative point of view, the genotypes from the progeny of cuspidata showed quite different metabolic profiles to olive common cultivars ("Arbequina", "Frantoio", "Koroneiki" and "Picual") used as controls. Cuspidata drupes were richer in terms of several bioactive compounds such as rutin, hydroxytyrosol glucoside, a few interesting secoiridoids and the compounds of m/z 421 and 363. The relationships among several secondary metabolites determined in the progeny inferred from the results of both PCA and cross-correlation analysis were explained according to metabolic biosynthesis pathways in olive drupes. These outcomes underlined the potential of cuspidata genetic resources as a source of potentially interesting variability in olive breeding programs.

7.
GigaByte ; 2022: gigabyte69, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36824509

RESUMEN

The apple cultivar 'Honeycrisp' has superior fruit quality traits, cold hardiness, and disease resistance, making it a popular breeding parent. However, it suffers from several physiological disorders, production, and postharvest issues. Despite several available apple genome sequences, understanding of the genetic mechanisms underlying cultivar-specific traits remains lacking. Here, we present a highly contiguous, fully phased, chromosome-level genome of 'Honeycrisp' apples, using PacBio HiFi, Omni-C, and Illumina sequencing platforms, with two assembled haplomes of 674 Mbp and 660 Mbp, and contig N50 values of 32.8 Mbp and 31.6 Mbp, respectively. Overall, 47,563 and 48,655 protein-coding genes were annotated from each haplome, capturing 96.8-97.4% complete BUSCOs in the eudicot database. Gene family analysis reveals most 'Honeycrisp' genes are assigned into orthogroups shared with other genomes, with 121 'Honeycrisp'-specific orthogroups. This resource is valuable for understanding the genetic basis of important traits in apples and related Rosaceae species to enhance breeding efforts.

8.
Plants (Basel) ; 12(1)2022 Dec 29.
Artículo en Inglés | MEDLINE | ID: mdl-36616284

RESUMEN

The fruit size of a cultivated olive tree is consistently larger than its corresponding wild relatives because fruit size is one of the main traits associated with olive tree domestication. Additionally, large fruit size is one of the main objectives of modern olive breeding programs. However, as the long juvenile period is one main hindrance in classic breeding approaches, obtaining genetic markers associated with this trait is a highly desirable tool. For this reason, GWAS analysis of both genetic markers and the genes associated with fruit size determination, measured as fruit weight, was herein carried out in 50 genotypes, of which 40 corresponded to cultivated and 10 to wild olive trees. As a result, 113 genetic markers were identified, which showed a very high statistically significant correlation with fruit weight variability, p < 10−10. These genetic markers corresponded to 39 clusters of genes in linkage disequilibrium. The analysis of a segregating progeny of the cross of "Frantoio" and "Picual" cultivars allowed us to confirm 10 of the 18 analyzed clusters. The annotation of the genes in each cluster and the expression pattern of the samples taken throughout fruit development by RNAseq enabled us to suggest that some studied genes are involved in olive fruit weight determination.

9.
BMC Genomics ; 22(1): 229, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33794765

RESUMEN

BACKGROUND: Olive orchards are threatened by a wide range of pathogens. Of these, Verticillium dahliae has been in the spotlight for its high incidence, the difficulty to control it and the few cultivars that has increased tolerance to the pathogen. Disease resistance not only depends on detection of pathogen invasion and induction of responses by the plant, but also on barriers to avoid the invasion and active resistance mechanisms constitutively expressed in the absence of the pathogen. In a previous work we found that two healthy non-infected plants from cultivars that differ in V. dahliae resistance such as 'Frantoio' (resistant) and 'Picual' (susceptible) had a different root morphology and gene expression pattern. In this work, we have addressed the issue of basal differences in the roots between Resistant and Susceptible cultivars. RESULTS: The gene expression pattern of roots from 29 olive cultivars with different degree of resistance/susceptibility to V. dahliae was analyzed by RNA-Seq. However, only the Highly Resistant and Extremely Susceptible cultivars showed significant differences in gene expression among various groups of cultivars. A set of 421 genes showing an inverse differential expression level between the Highly Resistant to Extremely Susceptible cultivars was found and analyzed. The main differences involved higher expression of a series of transcription factors and genes involved in processes of molecules importation to nucleus, plant defense genes and lower expression of root growth and development genes in Highly Resistant cultivars, while a reverse pattern in Moderately Susceptible and more pronounced in Extremely Susceptible cultivars were observed. CONCLUSION: According to the different gene expression patterns, it seems that the roots of the Extremely Susceptible cultivars focus more on growth and development, while some other functions, such as defense against pathogens, have a higher expression level in roots of Highly Resistant cultivars. Therefore, it seems that there are constitutive differences in the roots between Resistant and Susceptible cultivars, and that susceptible roots seem to provide a more suitable environment for the pathogen than the resistant ones.


Asunto(s)
Olea , Verticillium , Ascomicetos , Olea/genética , Enfermedades de las Plantas/genética , Raíces de Plantas/genética
10.
Ann Hematol ; 100(3): 825-830, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33409623

RESUMEN

Among the different biomarkers predicting response in chronic lymphocytic leukemia (CLL), the most influential parameters are the mutational status of the IGHV genes and the presence of TP53 gene disruptions. Nevertheless, these important assessments are not readily available in most centers dealing with CLL patients. To provide this molecular testing across the country, the Spanish Cooperative Group on CLL (GELLC) established a network of four analytical reference centers. A total of 2153 samples from 256 centers were analyzed over a period of 30 months. In 9% of the patients, we found pathological mutations in the TP53 gene, whereas 48.96% were classified as IGHV unmutated. Results of the satisfaction survey of the program showed a Net Promoter Score of 85.15. Building a national network for molecular testing in CLL allowed the CLL population a broad access to complex biomarkers analysis that should translate into a more accurate and informed therapeutic decision-making.


Asunto(s)
Servicios de Laboratorio Clínico/organización & administración , Análisis Mutacional de ADN , Cadenas Pesadas de Inmunoglobulina/genética , Leucemia Linfocítica Crónica de Células B/genética , Derivación y Consulta/organización & administración , Proteína p53 Supresora de Tumor/genética , Biomarcadores de Tumor/genética , Servicios de Laboratorio Clínico/provisión & distribución , Estudios de Cohortes , Redes Comunitarias/organización & administración , Análisis Mutacional de ADN/métodos , Humanos , Ciencia de la Implementación , Colaboración Intersectorial , Satisfacción en el Trabajo , Leucemia Linfocítica Crónica de Células B/diagnóstico , Leucemia Linfocítica Crónica de Células B/epidemiología , Técnicas de Diagnóstico Molecular/métodos , Mutación , Pronóstico , España/epidemiología , Encuestas y Cuestionarios
13.
Clin Chem ; 66(3): 463-473, 2020 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-32068788

RESUMEN

BACKGROUND: The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. METHODS: We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We developed the protocol using the LDLR (low density lipoprotein receptor) gene including 23 samples with 8 different CNVs. After optimizing the protocol, it was used for genes in the following multiplexes: BRCA1 (BRCA1 DNA repair associated), BRCA2 (BRCA2 DNA repair associated), CHEK2 (checkpoint kinase 2), MLH1 (mutL homolog 1) plus MSH6 (mutS homolog 6), MSH2 (mutS homolog 2) plus EPCAM (epithelial cell adhesion molecule) and chromosome 17 (especially the TP53 [tumor protein 53] gene). We compared our procedure with multiplex ligation-dependent probe amplification (MLPA). RESULTS: The simple procedure for CNV detection required 150 min, with <10 min of handwork. After analyzing >240 samples, EOSAL-CNV excluded the presence of CNVs in all controls, and in all cases, results were identical using MLPA and EOSAL-CNV. Analysis of the 17p region in tumor samples showed 100% similarity between fluorescent in situ hybridization and EOSAL-CNV. CONCLUSIONS: EOSAL-CNV allowed reliable, fast, easy detection and characterization of CNVs. It provides an alternative to targeted analysis methods such as MLPA.


Asunto(s)
Variaciones en el Número de Copia de ADN , Reacción en Cadena de la Polimerasa/métodos , Receptores de LDL/genética , Sondas de ADN/química , Sondas de ADN/metabolismo , Colorantes Fluorescentes/química , Humanos , Hibridación Fluorescente in Situ , Reacción en Cadena de la Polimerasa Multiplex , Análisis de Secuencia de ADN
14.
J Am Heart Assoc ; 9(4): e014254, 2020 02 18.
Artículo en Inglés | MEDLINE | ID: mdl-32067585

RESUMEN

Background Intravenous ferric carboxymaltose (FCM) improves symptoms, functional capacity, and quality of life in heart failure and iron deficiency. The mechanisms underlying these effects are not fully understood. The aim of this study was to examine changes in myocardial iron content after FCM administration in patients with heart failure and iron deficiency using cardiac magnetic resonance. Methods and Results Fifty-three stable heart failure and iron deficiency patients were randomly assigned 1:1 to receive intravenous FCM or placebo in a multicenter, double-blind study. T2* and T1 mapping cardiac magnetic resonance sequences, noninvasive surrogates of intramyocardial iron, were evaluated before and 7 and 30 days after randomization using linear mixed regression analysis. Results are presented as least-square means with 95% CI. The primary end point was the change in T2* and T1 mapping at 7 and 30 days. Median age was 73 (65-78) years, with N-terminal pro-B-type natriuretic peptide, ferritin, and transferrin saturation medians of 1690 pg/mL (1010-2828), 63 ng/mL (22-114), and 15.7% (11.0-19.2), respectively. Baseline T2* and T1 mapping values did not significantly differ across treatment arms. On day 7, both T2* and T1 mapping (ms) were significantly lower in the FCM arm (36.6 [34.6-38.7] versus 40 [38-42.1], P=0.025; 1061 [1051-1072] versus 1085 [1074-1095], P=0.001, respectively). A similar reduction was found at 30 days for T2* (36.3 [34.1-38.5] versus 41.1 [38.9-43.4], P=0.003), but not for T1 mapping (1075 [1065-1085] versus 1079 [1069-1089], P=0.577). Conclusions In patients with heart failure and iron deficiency, FCM administration was associated with changes in the T2* and T1 mapping cardiac magnetic resonance sequences, indicative of myocardial iron repletion. Clinical Trial Registration URL: http://www.clinicaltrials.gov. Unique identifier: NCT03398681.


Asunto(s)
Anemia Ferropénica/tratamiento farmacológico , Compuestos Férricos/administración & dosificación , Insuficiencia Cardíaca/diagnóstico por imagen , Hierro/metabolismo , Imagen por Resonancia Magnética , Maltosa/análogos & derivados , Miocardio/metabolismo , Administración Intravenosa , Anciano , Anemia Ferropénica/complicaciones , Anemia Ferropénica/diagnóstico por imagen , Método Doble Ciego , Femenino , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/metabolismo , Hematínicos/administración & dosificación , Humanos , Masculino , Maltosa/administración & dosificación , Persona de Mediana Edad
15.
Ann Hematol ; 99(3): 527-537, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31989250

RESUMEN

Azacitidine (AZA) is a DNA hypomethylation agent administered in myeloid neoplasms; however, there is still a lack of established predictors of response. We studied 113 patients with myelodysplastic syndromes (n = 85) or acute myeloid leukemia (n = 28) who received AZA to assess the predictive value on response of clinical features, cytogenetics, and molecular markers. Overall, 46 patients (41%) responded to AZA. Platelet doubling after the first AZA cycle was associated with a better response (68% vs. 32% responders, P = 0.041). Co-occurrence of chromosome 7 abnormalities and 17p deletion was associated with a worse response (P = 0.039). Pre-treatment genetic mutations were detected in 98 patients (87%) and methylation of CDKN2B and DLC-1 promoters were detected in 50 (44%) and 37 patients (33%), respectively. Patients with SF3B1 mutations showed a better response to AZA (68% vs. 35% responders, P = 0.008). In contrast, subjects with mutations in transcription factors (RUNX1, SETBP1, NPM1) showed a worse response (20% vs. 47% responders, P = 0.014). DLC-1 methylation pre-treatment was associated with poor clinical features and its reduction post-treatment resulted in a better response to AZA in MDS patients (P = 0.037). In conclusion, we have identified several predictors of response to AZA that could help select the best candidates for this treatment.


Asunto(s)
Azacitidina/administración & dosificación , Inhibidor p15 de las Quinasas Dependientes de la Ciclina , Metilación de ADN/efectos de los fármacos , ADN de Neoplasias , Proteínas Activadoras de GTPasa , Síndromes Mielodisplásicos , Regiones Promotoras Genéticas , Proteínas Supresoras de Tumor , Anciano , Anciano de 80 o más Años , Deleción Cromosómica , Cromosomas Humanos Par 7/genética , Cromosomas Humanos Par 7/metabolismo , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/metabolismo , ADN de Neoplasias/genética , ADN de Neoplasias/metabolismo , Supervivencia sin Enfermedad , Femenino , Proteínas Activadoras de GTPasa/genética , Proteínas Activadoras de GTPasa/metabolismo , Humanos , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/mortalidad , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/tratamiento farmacológico , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/metabolismo , Síndromes Mielodisplásicos/mortalidad , Nucleofosmina , Tasa de Supervivencia , Proteínas Supresoras de Tumor/genética , Proteínas Supresoras de Tumor/metabolismo
16.
Exp Mol Pathol ; 105(1): 139-143, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-30017658

RESUMEN

BACKGROUND: Therapy-related acute myeloid leukemia (t-AML) develops in patients with prior exposure to cytotoxic therapies. Selection of a pre-existing TP53 mutated clone prone to acquire additional mutational events has been suggested as the main pathogenic mechanism of t-AML. Here, we report a unique case of t-AML which developed from a pre-existing DNMT3A mutated clone that persisted in the patient for more than 10 years despite treatment with intensive chemotherapy and allogeneic hematopoietic stem cell transplantation (alloHSCT). CASE PRESENTATION: A 42-year-old male was diagnosed with AML harboring a normal karyotype and mutations in the NPM1 (c.863_864ins, p.W288 fs*12), DNMT3A (c.2645G > A, p.R882H), and IDH1 (c.395G > A, p.R132H) genes. He achieved complete remission with intensive chemotherapy and was subsequently submitted to alloHSCT. Eleven years later, he was given chemotherapy and radiotherapy to treat a lung carcinoma. Three years later, t-AML was diagnosed; the disease had arisen from a pre-existing DNMT3A mutated patient-origin clone that had subsequently acquired a TP53 mutation and a complex karyotype. Although a second transplantation was intended, the disease was refractory to induction chemotherapy, and the patient eventually died from disease complications. We retrospectively demonstrated the persistence and post-transplantation latency of the R882H-DNMT3A mutation using a real-time PCR allele-specific analysis at different time-points during the observation period. DISCUSSION AND CONCLUSION: The present case highlights the potential clinical implications of a R882H-DNMT3A mutated clone that persisted after conventional AML treatment, including alloHSCT. It also reinforces the notion of the importance of cell non-intrinsic factors, such as the hematopoietic-stress induced by chemotherapy and radiotherapy, as drivers of clonal expansion.


Asunto(s)
Trasplante de Médula Ósea/efectos adversos , ADN (Citosina-5-)-Metiltransferasas/genética , Leucemia Mieloide Aguda/etiología , Mutación Missense , Adulto , ADN Metiltransferasa 3A , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , Masculino , Nucleofosmina , Trasplante Homólogo
17.
Clin Cardiol ; 41(6): 729-735, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29607528

RESUMEN

Treatment with intravenous ferric carboxymaltose (FCM) has been shown to improve symptoms, functional capacity, and quality of life in patients with heart failure and iron deficiency. However, the underlying mechanisms for these beneficial effects remain undetermined. The aim of this study is to quantify cardiac magnetic resonance changes in myocardial iron content after administration of intravenous FCM in patients with heart failure and iron deficiency and contrast them with parameters of heart failure severity. This is a multicenter, double-blind, randomized study. Fifty patients with stable symptomatic heart failure, left ventricular ejection fraction <50%, and iron deficiency will be randomly assigned 1:1 to receive intravenous FCM or placebo. Intramyocardial iron will be evaluated by T2* and T1 mapping cardiac magnetic resonance sequences before and at 7 and 30 days after FCM. After 30 days, patients assigned to placebo will receive intravenous FCM in case of persistent iron deficiency. The main endpoint will be changes from baseline in myocardial iron content at 7 and 30 days. Secondary endpoints will include the correlation of these changes with left ventricular ejection fraction, functional capacity, quality of life, and cardiac biomarkers. The results of this study will add important knowledge about the effects of intravenous FCM on myocardial tissue and cardiac function. We hypothesize that short-term (7 and 30 days) myocardial iron content changes after intravenous FCM, evaluated by cardiac magnetic resonance, will correlate with simultaneous changes in parameters of heart failure severity. The study is registered at http://www.clinicaltrials.gov (NCT03398681).


Asunto(s)
Anemia Ferropénica/tratamiento farmacológico , Compuestos Férricos/administración & dosificación , Insuficiencia Cardíaca/tratamiento farmacológico , Hematínicos/administración & dosificación , Maltosa/análogos & derivados , Miocardio/metabolismo , Anciano , Anemia Ferropénica/sangre , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/fisiopatología , Protocolos Clínicos , Método Doble Ciego , Femenino , Compuestos Férricos/efectos adversos , Compuestos Férricos/metabolismo , Insuficiencia Cardíaca/sangre , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/fisiopatología , Hematínicos/efectos adversos , Hematínicos/metabolismo , Humanos , Infusiones Intravenosas , Imagen por Resonancia Cinemagnética , Masculino , Maltosa/administración & dosificación , Maltosa/efectos adversos , Maltosa/metabolismo , Calidad de Vida , Recuperación de la Función , Proyectos de Investigación , Índice de Severidad de la Enfermedad , España , Volumen Sistólico , Factores de Tiempo , Resultado del Tratamiento , Función Ventricular Izquierda
19.
Enferm. clín. (Ed. impr.) ; 27(2): 125-131, mar.-abr. 2017. tab
Artículo en Español | IBECS | ID: ibc-161310

RESUMEN

Tras la evacuación de varios trabajadores internacionales con enfermedad del virus Ébola a centros de Occidente se produjo en Madrid, España, el primer caso de contagio fuera de África. Se trató de una Técnica de Cuidados Auxiliares de Enfermería que había atendido a un misionero repatriado desde Sierra Leona. El 7 de octubre de 2014 la paciente llegó a las instalaciones del Hospital Universitario La Paz-Carlos III de la Comunidad de Madrid. Permaneció ingresada 30 días, 25 en aislamiento estricto en una habitación con presión negativa y con esclusa para la retirada del equipo de protección individual. Los 5 últimos días fue trasladada a una habitación estándar. Se utilizaron las medidas de protección conforme a las indicaciones del Servicio de Prevención de Riesgos Laborales del Hospital Universitario La Paz-Carlos III. Acorde a su evolución diferenciamos tres fases con demandas específicas de cuidados que estuvieron condicionados por el riesgo de transmisión, lo que obligó a extremar las medidas de prevención. El perfil profesional sobre el que recayó el mayor número de intervenciones directas fue el de enfermería. Es fundamental que se creen unidades especializadas para enfermedades altamente contagiosas con entrenamiento y formación periódicos además de analizar desde el punto de vista enfermero este y otros casos que permitan estandarizar la atención. También consideramos primordial el manejo de la comunicación para prevenir la alarma social y la estigmatización del personal


After the evacuation from Africa to Western hospitals of several international workers with the Ebola virus disease, the first case of contagion outside Africa occurred in Madrid, Spain. A nursing care assistant who had attended a missionary repatriated from Sierra Leone contracted the disease. On October 7th 2014, the patient arrived at the University Hospital La Paz-Carlos III in Madrid. She remained in the hospital for 30 days, 25 of which were in strict isolation in a negative pressure room with air lock anteroom; personal protective equipment was required. During the last five days, the patient was moved to a standard room. Protection measures were used in accordance with the Hospital Occupational Health Department. According to its evolution, we differentiate three phases with specific care demands which were conditioned by the risk of transmission, forcing extreme measures of prevention. The largest numbers of direct interventions fall within the realm of the nursing profession. It is essential that specialized units with regular training be created for highly contagious diseases. In addition, this and other cases should be analyzed from the point of view of nursing, to allow standardized care. We also recognize the importance of managing communication to prevent social unrest and stigmatization of staff


Asunto(s)
Humanos , Femenino , Fiebre Hemorrágica Ebola/epidemiología , Ebolavirus/patogenicidad , Atención de Enfermería/métodos , Control de Enfermedades Transmisibles/organización & administración , Transmisión de Enfermedad Infecciosa de Paciente a Profesional/prevención & control
20.
Enferm Clin ; 27(2): 125-131, 2017.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28041818

RESUMEN

After the evacuation from Africa to Western hospitals of several international workers with the Ebola virus disease, the first case of contagion outside Africa occurred in Madrid, Spain. A nursing care assistant who had attended a missionary repatriated from Sierra Leone contracted the disease. On October 7th 2014, the patient arrived at the University Hospital La Paz-Carlos III in Madrid. She remained in the hospital for 30 days, 25 of which were in strict isolation in a negative pressure room with air lock anteroom; personal protective equipment was required. During the last five days, the patient was moved to a standard room. Protection measures were used in accordance with the Hospital Occupational Health Department. According to its evolution, we differentiate three phases with specific care demands which were conditioned by the risk of transmission, forcing extreme measures of prevention. The largest numbers of direct interventions fall within the realm of the nursing profession. It is essential that specialized units with regular training be created for highly contagious diseases. In addition, this and other cases should be analyzed from the point of view of nursing, to allow standardized care. We also recognize the importance of managing communication to prevent social unrest and stigmatization of staff.


Asunto(s)
Fiebre Hemorrágica Ebola/enfermería , Fiebre Hemorrágica Ebola/prevención & control , Adulto , África , Femenino , Humanos , España
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