Genome-wide DNA copy number analysis of acute lymphoblastic leukemia identifies new genetic markers associated with clinical outcome

Altres ajuts: FUCALHH 2013; HUS272U13; GRS 994/A/14, BIO/SA10/14, BIO/SA31/13; Fundación Española de Hematología y Hemoterapia (FEHH), Universidad Pedagógica y Tecnológica de Colombia 223-2011Identifying additional genetic alterations associated with poor prognosis in acute lymphoblastic leukemia (ALL) is still a challenge. Aims: To characterize the presence of additional DNA copy number alterations (CNAs) in children and adults with ALL by whole-genome oligonucleotide array (aCGH) analysis, and to identify their associations with clinical features and outcome. Array-CGH was carried out in 265 newly diagnosed ALLs (142 children and 123 adults). The NimbleGen CGH 12x135K array (Roche) was used to analyze genetic gains and losses. CNAs were analyzed with GISTIC and aCGHweb software. Clinical and biological variables were analyzed. Three of the patients showed chromothripsis (cth6, cth14q and cth15q). CNAs were associated with age, phenotype, genetic subtype and overall survival (OS). In the whole cohort of children, the losses on 14q32.33 (p = 0.019) and 15q13.2 (p = 0.04) were related to shorter OS. In the group of children without good- or poor-risk cytogenetics, the gain on 1p36.11 was a prognostic marker independently associated with shorter OS. In adults, the gains on 19q13.2 (p = 0.001) and Xp21.1 (p = 0.029), and the loss of 17p (p = 0.014) were independent markers of poor prognosis with respect to OS. In summary, CNAs are frequent in ALL and are associated with clinical parameters and survival. Genome-wide DNA copy number analysis allows the identification of genetic markers that predict clinical outcome, suggesting that detection of these genetic lesions will be useful in the management of patients newly diagnosed with ALL

Ciencias de la Biología y Agronomía

Este volumen I contiene 17 capítulos arbitrados que se ocupan de estos asuntos en Tópicos Selectos de Ciencias de la Biología y Agronomía, elegidos de entre las contribuciones, reunimos algunos investigadores y estudiantes. Se presenta un Estudio Comparativo de los Recursos Hidrológico-Forestales de la Microcuenca de la Laguna de Epatlan, Pue. (1993 a 2014); la Situación Actual de la Mancha de Asfalto en Maíz (Zea mays L.) en los Municipios de Jiquipilas y Ocozocoautla, Chiapas, México; las poblaciones sobresalientes de maíz de la raza Zapalote Chico, en la Región Istmeña de Oaxaca; Se indica el índice de área foliar de cultivo de Chile Poblano mediante dos métodos en condiciones protegidas; Esquivel, Urzúa y Ramírez exploran el efecto de la biofertilización con Azospirillum en el crecimiento y producción de Jitomate; esbozan su artículo sobre la determinación del nivel de Heterosis en híbridos de Maíz para la Comarca Lagunera; una investigación sobre la estabilización de semilla de Solanum lycopersicum durante el almacenamiento y estimulación de la germinación; acotan sobre el CTAB como una nueva opción para la detección de Huanglongbing en cítricos, plantean su evaluación sobre el aluminio y cómo afecta la vida de florero de Heliconia psittacorum; indican sobre el impacto del H-564C, como un híbrido de maíz con alta calidad de proteina para el trópico húmedo de México; presetan su investigación sobre la producción de Piña Cayena Lisa y MD2 (Ananas comosus L.) en condiciones de Loma Bonita, en Oaxaca; acotan sobre el efecto de coberteras como control biológico por conservación contra áfidos en Nogal Pecanero; esbozan sobre la caracterización de cuatro genotipos de Frijol Negro en Martínez de la Torre, Veracruz, México; presentan una caracterización hidroecológica de la microcuenca de Arroyo Prieto, Yuriría, Gto., y alternativas para su restauración ambiental; presentan su investigación sobre el efecto del hongo Beauveria bassiana sobre solubilización de fosfatos y la disponibilidad de fósforo en el suelo; plantean su investigación sobre la Germinación y regeneración in vitro de Epidendrum falcatum LINDL; esbozan su artículo sobre genotipos de frijol negro y su tolerancia a sequía terminal en Veracruz, México

Effectiveness of an intervention for improving drug prescription in primary care patients with multimorbidity and polypharmacy:Study protocol of a cluster randomized clinical trial (Multi-PAP project)

This study was funded by the Fondo de Investigaciones Sanitarias ISCIII (Grant Numbers PI15/00276, PI15/00572, PI15/00996), REDISSEC (Project Numbers RD12/0001/0012, RD16/0001/0005), and the European Regional Development Fund ("A way to build Europe").Background: Multimorbidity is associated with negative effects both on people's health and on healthcare systems. A key problem linked to multimorbidity is polypharmacy, which in turn is associated with increased risk of partly preventable adverse effects, including mortality. The Ariadne principles describe a model of care based on a thorough assessment of diseases, treatments (and potential interactions), clinical status, context and preferences of patients with multimorbidity, with the aim of prioritizing and sharing realistic treatment goals that guide an individualized management. The aim of this study is to evaluate the effectiveness of a complex intervention that implements the Ariadne principles in a population of young-old patients with multimorbidity and polypharmacy. The intervention seeks to improve the appropriateness of prescribing in primary care (PC), as measured by the medication appropriateness index (MAI) score at 6 and 12months, as compared with usual care. Methods/Design: Design:pragmatic cluster randomized clinical trial. Unit of randomization: family physician (FP). Unit of analysis: patient. Scope: PC health centres in three autonomous communities: Aragon, Madrid, and Andalusia (Spain). Population: patients aged 65-74years with multimorbidity (≥3 chronic diseases) and polypharmacy (≥5 drugs prescribed in ≥3months). Sample size: n=400 (200 per study arm). Intervention: complex intervention based on the implementation of the Ariadne principles with two components: (1) FP training and (2) FP-patient interview. Outcomes: MAI score, health services use, quality of life (Euroqol 5D-5L), pharmacotherapy and adherence to treatment (Morisky-Green, Haynes-Sackett), and clinical and socio-demographic variables. Statistical analysis: primary outcome is the difference in MAI score between T0 and T1 and corresponding 95% confidence interval. Adjustment for confounding factors will be performed by multilevel analysis. All analyses will be carried out in accordance with the intention-to-treat principle. Discussion: It is essential to provide evidence concerning interventions on PC patients with polypharmacy and multimorbidity, conducted in the context of routine clinical practice, and involving young-old patients with significant potential for preventing negative health outcomes. Trial registration: Clinicaltrials.gov, NCT02866799Publisher PDFPeer reviewe

Role of age and comorbidities in mortality of patients with infective endocarditis

[Purpose]: The aim of this study was to analyse the characteristics of patients with IE in three groups of age and to assess the ability of age and the Charlson Comorbidity Index (CCI) to predict mortality. [Methods]: Prospective cohort study of all patients with IE included in the GAMES Spanish database between 2008 and 2015.Patients were stratified into three age groups:<65 years,65 to 80 years,and ≥ 80 years.The area under the receiver-operating characteristic (AUROC) curve was calculated to quantify the diagnostic accuracy of the CCI to predict mortality risk. [Results]: A total of 3120 patients with IE (1327 < 65 years;1291 65-80 years;502 ≥ 80 years) were enrolled.Fever and heart failure were the most common presentations of IE, with no differences among age groups.Patients ≥80 years who underwent surgery were significantly lower compared with other age groups (14.3%,65 years; 20.5%,65-79 years; 31.3%,≥80 years). In-hospital mortality was lower in the <65-year group (20.3%,<65 years;30.1%,65-79 years;34.7%,≥80 years;p < 0.001) as well as 1-year mortality (3.2%, <65 years; 5.5%, 65-80 years;7.6%,≥80 years; p = 0.003).Independent predictors of mortality were age ≥ 80 years (hazard ratio [HR]:2.78;95% confidence interval [CI]:2.32–3.34), CCI ≥ 3 (HR:1.62; 95% CI:1.39–1.88),and non-performed surgery (HR:1.64;95% CI:11.16–1.58).When the three age groups were compared,the AUROC curve for CCI was significantly larger for patients aged <65 years(p < 0.001) for both in-hospital and 1-year mortality. [Conclusion]: There were no differences in the clinical presentation of IE between the groups. Age ≥ 80 years, high comorbidity (measured by CCI),and non-performance of surgery were independent predictors of mortality in patients with IE.CCI could help to identify those patients with IE and surgical indication who present a lower risk of in-hospital and 1-year mortality after surgery, especially in the <65-year group

Effect of light on carbohydrates and hydrosoluble vitamins of lentils during soaking

Lentils have been soaked with and without light to investigate the effect of the light on carbohydrates and soluble vitamins during the soaking process. Soaking significantly decreased the α-galactoside content of lentils (3.2% to 1.2% or 1.0%). Glucose (not present in raw seeds) and fructose increased with soaking with light. Raffinose was completely eliminated in presence of light but was still present after soaking in the dark (0.15%). The overall results confirm previous findings, but the soaking process cannot be explained simply as a result of sugars leaching into the soaking media. On the contrary, some metabolic processes must be inferred, and light plays a certain role in the process. The NDF, ADF, cellulose, hemicellulose, and lignin contents were not significantly modified by soaking with or without light. Total and digestible starch significantly increased after soaking (52% to 58% and 45% to 52%, respectively), but an influence of light was not detected. The ratio of digestible starch to total starch improved during soaking, an indication that digestibility could be enhanced after this process. No effect of light during the soaking process has been observed on the vitamin content of processed lentils. Thiamin and niacin decreased significantly with soaking as a result of leaching into the water, but riboflavin increased significantly. Again, this result may imply the onset of metabolic processes during soaking, although no light effect has been observed.This study was supported by the Spanish Comision Interministerial de Ciencia y Tecnologia (CICYT) ALI-91-1092-C02-01.Peer reviewe

New functional legume foods by germination: Effect on the nutritive value of beans, lentils and peas

The effect of different conditions of germination at a semi-pilot scale on the content of available soluble sugars, alpha-galactosides, vitamins B 1 and B2, and inositol phosphates of beans, lentils and peas have been studied. Results obtained indicated that germination modified the nutritional composition of legumes depending on the type of legume and germination conditions. The storage compounds present in dry seeds (alpha-galactosides and higher forms of inositol phosphates) decreased because they were hydrolysed to glucose, fructose, IP4 and IP3, compounds that can serve as a source of energy for the new plant. Vitamin B 2 suffered an important increase after germination whereas vitamin B1 did not change significantly. To achieve legume flours with enhanced nutritive value, 6 days of germination in the presence of light for beans and lentils, and in darkness for peas can be suggestedPeer Reviewe

Nutritional evaluation of lentil flours obtained after short-time soaking processes

Twenty-four short-time soaking (STS) processes were carried out to study the influence of some experimental variables (lentil/water ratio, temperature, illumination, elimination of the soaking medium and milling of the seeds) on the glucose, fructose, sucrose, total available soluble sugars, starch, vitamin B1, vitamin B2, available niacin, raffinose, ciceritol, stachyose, total α-galactosides and trypsin inhibitor activities of lentil flours obtained. The soaking process produced, in general, a reduction in the total available soluble sugars content of 8-70%. Glucose was not found in the raw lentils, but was present in the lentil flours obtained after soaking processes carried out in presence of light. Fructose increased in most of the experiments (22-967%) and sucrose decreased significantly (6-73%). Regarding the starch content, the soaking process produced a significant reduction (11-31%). The hydrosoluble vitamin content of lentils, in general, decreased or did not change. However, vitamin B2 and available niacin increased significantly in some experiments, especially in those carried out with ground lentils. The α-galactoside content suffered a large reduction (12-58%) and TIA levels were reduced by 2-33%. From the results obtained, it can be established that STS affects the nutrients and antinutrients of lentils in a different way depending on the experimental conditions. Lentil flours with a low level of antinutritional factors and a high vitamin level are obtained with ground lentils at 42 °C.This work was supported by the Spanish Comision Interministerial de Ciencia y Tecnología AGL-2000–1609-C02–01, and it is part of the PhD of I. Sierra and C. Sotomayor.Peer Reviewe

Nutritional evaluation of ethanol-extracted lentil flours

Lentil flours were extracted with 80% ethanol at 25 and 50 °C for 1, 2, or 3 h. The various nitrogen fractions, soluble carbohydrates, three amino acids (Lys, His, and Tyr), available lysine, protein digestibility, and vitamins B1 and B2 were analyzed to evaluate the effect of extraction. Extraction resulted in an increase in the total nitrogen content of the extracted flours, with extraction temperature affecting the nature of the nitrogen (protein or nonprotein) content. There was also a large reduction in the oligosaccharides of the raffinose family, although the effect of temperature was appreciable only in the case of stachyose. There was hardly any effect on the concentrations of the amino acids analyzed or on protein digestibility; however, a positive correlation between protein digestibility and the available lysine was recorded in the samples. The vitamin B1 and B2 contents underwent variable decreases depending on extraction temperature.Peer Reviewe