Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.

Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.

Comprehensive detection of alterations in acute lymphoblastic leukemia: a rapid and accurate novel approach.

Acute lymphoblastic leukemia (ALL) is a prevalent childhood cancer with high cure rate, but poses a significant medical challenge in adults and relapsed patients. Philadelphia-like acute lymphoblastic leukemia (Ph-like ALL) is a high-risk subtype, with approximately half of cases characterized by overexpression and frequent concomitant deletions. To address the need for efficient, rapid, and cost-effective detection of alterations, we developed a novel RT-qPCR technique combining SYBR Green and highresolution melting analysis on a single plate.

Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping.

Cytogenetic assessment in myelofibrosis is essential for risk stratification and patient management. However, an informative karyotype is unavailable in a significant proportion of patients. Optical genome mapping (OGM) is a promising technique that allows for a high-resolution assessment of chromosomal aberrations (structural variants, copy number variants, and loss of heterozygosity) in a single workflow.

Design and Validation of a Custom Next-Generation Sequencing Panel in Pediatric Acute Lymphoblastic Leukemia.

The molecular landscape of acute lymphoblastic leukemia (ALL) is highly heterogeneous, and genetic lesions are clinically relevant for diagnosis, risk stratification, and treatment guidance. Next-generation sequencing (NGS) has become an essential tool for clinical laboratories, where disease-targeted panels are able to capture the most relevant alterations in a cost-effective and fast way. However, comprehensive ALL panels assessing all relevant alterations are scarce.

Changes in the Polyphenolic Profile and Antioxidant Activity of Wheat Bread after Incorporating Quinoa Flour.

Quinoa is a trend and a promising functional food ingredient. Following previous research into the impact of incorporating quinoa flour on the polyphenol content and antioxidant activity of bread, this study aimed to bridge an existing gap about the qualitative and quantitative polyphenolic profiles of such bread. The UPLC-MS/MS analysis showed that quinoa bread, made with 25% quinoa flour of a black variety, presented more compounds than refined-wheat bread, and levels were remarkably higher in many cases.

Ascorbic Acid Content and Transcriptional Profiling of Genes Involved in Its Metabolism during Development of Petals, Leaves, and Fruits of Orange ( cv. Valencia Late).

fruit is one of the most important contributors to the ascorbic acid (AsA) intake in humans. Here, we report a comparative analysis of AsA content and transcriptional changes of genes related to its metabolism during development of petals, leaves and fruits of Valencia Late oranges (). Petals of close flowers and at anthesis contained the highest concentration of AsA.

Understanding phenolic acids inhibition of α-amylase and α-glucosidase and influence of reaction conditions.

Phenolic acids are involved in modulating the activity of starch digestive enzymes but remains unclear if their interaction with enzymes or starch is governing the inhibition. The potential inhibition of nine phenolic acids against α-amylase and α-glucosidase was studied applying different methodologies to understand interactions between phenolic acids and either enzymes or substrates. Vanillic and syringic acids were prone to interact with α-amylase requiring low half-maximum inhibitory concentration (IC) to inhibit starch hydrolysis.

Proteomic Analysis of Response to Oxidative Stress Mediated by Cocoa Polyphenols Extract.

The present study addressed the protective effects against oxidative stress (OS) of a cocoa powder extract (CPEX) on the protein expression profile of . A proteomic analysis was performed after culture preincubation with CPEX either without stress (-OS) or under stress conditions (+OS) (5 mM of HO). LC-MS/MS identified 33 differentially expressed proteins (-OS: 14, +OS: 19) that were included By Gene Ontology analysis in biological processes: biosynthesis of amino acids, carbohydrate metabolism and reactive oxygen species metabolic process.

Evaluation of Carotenoids Protection Against Oxidative Stress in the Animal Model Caenorhabditis elegans.

The nematode Caenorhabditis elegans is a versatile and powerful model organism for animal experimental research and, despite being an invertebrate, displays remarkably similar molecular bases and conserved cellular pathways to those of humans. Oxidative stress is an etiological factor that influences numerous diseases, degenerative processes and aging. C.

Effect of Incorporating White, Red or Black Quinoa Flours on Free and Bound Polyphenol Content, Antioxidant Activity and Colour of Bread.

Interest in quinoa as a functional food ingredient is currently emerging. The flours from white, red and black quinoa seeds were analysed in terms of total polyphenol content and antioxidant activity. They were incorporated at 25% on flour basis into the bread dough formula to evaluate their potential to improve the functional properties of wheat breads.

The Antarctic yeast Candida sake: Understanding cold metabolism impact on wine.

Current winemaking trends include low-temperature fermentations and using non-Saccharomyces yeasts as the most promising tools to produce lower alcohol and increased aromatic complexity wines. Here we explored the oenological attributes of a C. sake strain, H14Cs, isolated in the sub-Antarctic region.

Evaluation of the Ability of Polyphenol Extracts of Cocoa and Red Grape to Promote the Antioxidant Response in Yeast Using a Rapid Multiwell Assay.

Saccharomyces cerevisiae has been used as a model organism to study the capacity of cocoa and red grape extracts to trigger an antioxidant response. A methodology adapted to microtiter plates has been developed to monitor yeast growth after culture preincubation with food ingredients and exposure to oxidative stress by hydrogen peroxide and menadione. This methodology proved effective in measuring the ability of cocoa and red grape extracts to promote an antioxidant response in yeast, and also the prospect of conducting dose-response studies.

Past and Future of Non-Saccharomyces Yeasts: From Spoilage Microorganisms to Biotechnological Tools for Improving Wine Aroma Complexity.

It is well established that non-Saccharomyces wine yeasts, considered in the past as undesired or spoilage yeasts, can enhance the analytical composition, and aroma profile of the wine. The contribution of non-Saccharomyces yeasts, including the ability to secret enzymes and produce secondary metabolites, glycerol and ethanol, release of mannoproteins or contributions to color stability, is species- and strain-specific, pointing out the key importance of a clever strain selection. The use of mixed starters of selected non-Saccharomyces yeasts with strains of Saccharomyces cerevisiae represents an alternative to both spontaneous and inoculated wine fermentations, taking advantage of the potential positive role that non-Saccharomyces wine yeast species play in the organoleptic characteristics of wine.

De novo production of six key grape aroma monoterpenes by a geraniol synthase-engineered S. cerevisiae wine strain.

Background: Monoterpenes are important contributors to grape and wine aroma. Moreover, certain monoterpenes have been shown to display health benefits with antimicrobial, anti-inflammatory, anticancer or hypotensive properties amongst others. The aim of this study was to construct self-aromatizing wine yeasts to overproduce de novo these plant metabolites in wines.

Quantitative comparison of free and bound volatiles of two commercial tomato cultivars (Solanum lycopersicum L.) during ripening.

The changes in the profile of both free and glycosidically bound volatiles were studied in Moneymaker and Raf tomato cultivars during fruit ripening. The concentrations of 20 of 24 and of 27 of 30 compounds detected in the free volatile fraction (FVF) and glycosidically bound fraction (GBF), respectively, differed significantly between cultivars during ripening. Most free and bound volatiles increased during ripening in both cultivars.

Increasing the levels of 2-phenylethyl acetate in wine through the use of a mixed culture of Hanseniaspora osmophila and Saccharomyces cerevisiae.

The impact of mixed cultures of Hanseniaspora osmophila and Saccharomyces cerevisiae with different initial yeast ratios on wine composition has been examined. The mixed culture significantly affected sugar consumption, the main enological parameters and ester concentrations, with the exception of glycerol, isoamyl acetate and diethyl succinate levels. Remarkably, in wines obtained with mixed cultures the concentration of 2-phenylethyl acetate was approximately 3- to 9-fold greater than that produced by S.

Rational selection of non-Saccharomyces wine yeasts for mixed starters based on ester formation and enological traits.

Thirty-eight yeast strains belonging to the genera Candida, Hanseniaspora, Pichia, Torulaspora and Zygosaccharomyces were screened for ester formation on synthetic microbiological medium. The genera Hanseniaspora and Pichia stood out as the best acetate ester producers. Based on the ester profile Hanseniaspora guilliermondii 11027 and 11102, Hanseniaspora osmophila 1471 and Pichia membranifaciens 10113 and 10550 were selected for further characterization of enological traits.

Quantitation of free and glycosidically bound volatiles in and effect of glycosidase addition on three tomato varieties (Solanum lycopersicum L.).

The volatile fractions of three tomato cultivars (p73, Jorge, and Durinta) were studied in both free and glycosidically bound forms. The possibility of increasing the concentration of free volatile compounds by adding selected glycosidases was also tested. The free volatile fraction (FVF) of tomato juice was directly determined by headspace solid-phase microextraction (SPME).

Dietary phytoestrogens improve stroke outcome after transient focal cerebral ischemia in rats.

As phytoestrogens are postulated as being neuroprotectants, we assessed the hypothesis that dietary isoflavone-type phytoestrogens are neuroprotective against ischemic stroke. Transient focal cerebral ischemia (90 min) was induced by middle cerebral artery occlusion (MCAO) following the intraluminal thread technique, both in rats fed with soy-based diet and in rats fed with isoflavone-free diet. Cerebro-cortical laser-Doppler flow (cortical perfusion, CP), arterial blood pressure, core temperature, PaO2, PaCO2, pH and glycemia were measured before, during and after MCAO.

Over-production of the major exoglucanase of Saccharomyces cerevisiae leads to an increase in the aroma of wine.

A Saccharomyces cerevisiae wine strain over-producing an endogenous exoglucanase encoded by the EXG1 gene has been constructed to investigate the possible role of this enzyme in increasing wine aroma through the release of a glycosidic precursor. Purification and biochemical characterization of the EXG1 protein has been performed revealing an apparent molecular mass of 61 kDa and an optimal pH and temperature of 4-5 and 55 degrees C, respectively. No activity loss due to ethanol, SO2, glucose or fructose at concentrations typically found in wine and must has been detected.

Construction of a genetically modified wine yeast strain expressing the Aspergillus aculeatus rhaA gene, encoding an alpha-L-rhamnosidase of enological interest.

The Aspergillus aculeatus rhaA gene encoding an alpha-L-rhamnosidase has been expressed in both laboratory and industrial wine yeast strains. Wines produced in microvinifications, conducted using a combination of the genetically modified industrial strain expressing rhaA and another strain expressing a beta-glucosidase, show increased content mainly of the aromatic compound linalool.

Pharmacological profile of phytoestrogens in cerebral vessels: in vitro study with rabbit basilar artery.

As a previous step to consider their use in the pharmacology for stroke, we investigated the effects of four phytoestrogens (i.e. genistein, daidzein, zearalanone and biochanin A) on cerebral vessels.

Acetate ester formation in wine by mixed cultures in laboratory fermentations.

Two non-Saccharomyces wine yeast strains, Hanseniaspora guilliermondii 11104 and Pichia anomala 10590, selected as good producers of acetate esters when grown on synthetic microbiological medium, have been tested in wine fermentations as mixed cultures together with Saccharomyces cerevisiae. Wines produced using mixed cultures showed levels of acetaldehyde, acetic acid, glycerol and total higher alcohols within the ranges described for wine, whereas an increase in acetate ester concentrations was found. Ethyl acetate was the main ester produced, and isoamyl acetate and 2-phenylethyl acetate made up the next largest group of ester compounds in the wines analysed.