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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

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Cancer Communications 2021年第3期41卷 218-228页

作者： Rosario Ferrer-Avargues Maria Isabel Castillejo Estela Damaso Virginia Diez-Obrero Noemi Garrigos Tatiana Molina Alan Codoner-Alejos angel segura Ana Beatriz Sanchez-Heras Adela Castillejo Jose Luis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

Background:Lynch syndrome(LS)is a hereditary condition characterized by a high risk of colorectal cancer,endometrial cancer,and other neoplasia associated with germline alterations in DNA mismatch repair *** classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected ***-generation sequencing(NGS)enables the simultaneous sequencing of a large number of hereditary cancer ***,we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with ***:A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid *** American College of Medical Genetics and Genomics criteria were used to classify the clinical significance of the *** findings of NGS were confirmed by Sanger *** possible,genetic analyses of the new findings in the proband’s relativeswere also performed by Sanger ***:We identified five families(6%),out of 84,with at least two germline pathogenic variants conferring to high or moderate risk in different dominant cancer-predisposing genes:[MLH1-BRCA2-NBN],[MLH1-BRCA1],[MSH2-ATM],[MSH6-NF1],and[MLH1-FANCA].Interestingly,only one out of these five families exhibited a clinical phenotype associated with the new pathogenic *** family with three pathogenic variants of the[MLH1-BRCA2-NBN]genes showed a high aggregation of tumors associated with LS and breast and ovarian cancer ***:Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of *** cases,no clinicial manifestations were associated with the secondary pathogenic *** studies are needed to confirm these findings and elucidate their clinical *** of LS families should be considered only in fa

关键词： cancer panel hereditary cancer lynch syndrome moderate penetrance genes multilocus inherited neoplasia alleles syndrome next-generation sequencing secondary findings

Arsenic Removal from Zimapan Contaminated Water Monitored by the Tyndall Effect

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Journal of Environmental Protection 2015年第5期6卷 538-551页

作者： Eunice Vera-Aguilar Eduardo López-Sandoval Juan José Godina-Nava Mariano Enrique Cebrián-García Octavio López-Riquelme Miguel angel Rodríguez-segura Blanca Estela Zendejas-Leal Carlos Vázquez-López Departamento de Farmacología Centro de Investigación y de Estudios Avanzados del IPN México D.F. México Departamento de Ciências Exatas e Tecnológicas Universidade Estadual de Santa Cruz Ilhéus Brazil Departamento de Física Centro de Investigación y de Estudios Avanzados del IPN México D.F. México

In Zimapan Valley, Mexico, up to 1.1 mg·L-1 of arsenic concentrations have been detected in deep wells that are used as drinking water supply for almost 39,000 people, which could have been exposed to levels higher than 10 μg·L-1 of arsenic, the maximum level recommended by the World Health Organization. Chronic consumption of water contaminated with arsenic can cause several diseases, including cancer. For it, the implementation of practical and economical methods to remove arsenic from drinking water is crucial to protect the population health. In this work, an electrochemical method to remove arsenic from drinking water is described. The process, monitored by Tyndall effect, utilizes Cu2+ and Zn2+ ions from a brass electrode in an electrochemical cell with water as electrolyte. Results show that the EC process reduces the concentration of the arsenic diluted in Zimapan water to a level below the limit of detection of the atomic absorption spectrophotometer employed. Arsenic was removed through the formation of Cu and Zn arsenic compounds. Cu2+ and Zn2+ ions form a hydroxide and eventually polycrystalline precipitation of kottigite and cornubite complexes (identified by energy-dispersive X-ray spectroscopy and X-ray diffraction), which are then filtered to eliminate the precipitated arsenic compounds.

关键词： Arsenic Removal Turbidity Tyndall Effect Groundwater Arsenic-Contamination Electro-Flocculation Brass Electrodes

Comparison of Chemical and Functional Properties of Stevia rebaudiana(Bertoni)Varieties Cultivated in Mexican Southeast

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American Journal of Plant Sciences 2014年第3期5卷 286-293页

作者： Maira segura-Campos Enrique Barbosa-Martín angel Matus-Basto Diana Cabrera-Amaro María Murguía-Olmedo Yolanda Moguel-Ordonez David Betancur-Ancona Facultad de Ingeniería Química Universidad Autónoma de YucatánYucatanMexico Instituto Nacional de Invesigaciones Forestales Agrícolas y Pecuarias(INIFAP)YucatanMexico

The leaf powders from two varieties of Stevia rebaudiana (Bertoni) cultivated in Yucatan, Mexico were analyzed for their proximate composition, dietary fiber composition and functional properties. The leaf powders were a good source of carbohydrates (64.06%-67.98%), protein (12.11%-15.05%), and crudefiber (5.92%-9.52%). Total dietary fiber content in the S. rebaudiana leaf powders were 28.61 (Morita II) and 29.12 (Criolla) g/100g sample, with most of this content represented by insoluble dietary fiber 87.79% (Morita II) and 70.02% (Criolla). Neutral detergent fiber (NDF), acid detergent fiber (ADF) and acid detergent lignin (ADL) were higher in Criolla (19.29%, 17.77%, 8.98%) than Morita II variety (18.11%, 14.16%, 2.28%). Hemicellulose and cellulose were higher in Morita II (3.96%, 11.78%) than criolla variety (1.51%, 8.79%). Functional properties of leaf powder from Morita II and Criolla were, water-holding capacity (2.87-4.07 g/g sample), oil-holding capacity (6.49-6.79 g/g sample), water-absorption capacity (3.41-3.44 g/g sample), water-adsorption capacity (0.25-0.28 g/g sample), and organic molecule absorption capacity (1.13-1.81 g/g sample). These suggest that S. rebaudiana (Bertoni) leaf powders may be used as dietary supplement or as food additive.

关键词： Stevia rebaudiana(Bertoni) Physico-Chemical Properties Dietary Fiber Functional Properties

Morphological Characterization and Phenological Modeling of <i>Jatropha platyphylla</i>(Euphorbiaceae) Muell. Arg. Genotypes

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American Journal of Plant Sciences 2022年第1期13卷 23-35页

作者： Edith Salazar-Villa Martha Lidia Gutiérrez-Pérez Federico Soto-Landeros Karla Marina Báez-Parra María de la Paz Sosa-segura Miguel angel Angulo-Escalante Centro de Investigación en Alimentación y Desarrollo AC Culiacán México Facultad de Agronomía Universidad Autónoma de Sinaloa Culiacán México Instituto Tecnológico Superior de Guasave Guasave México Facultad de Ciencias Químico Biológicas Universidad Autónoma de Sinaloa Culiacán México Colegio de Bachilleres del Estado de Sinaloa Culiacán México

Morphological characterization and phenological modeling were carried out on genotypes of Jatropha platyphylla collected from the states of Sinaloa and Durango, Mexico. The morphological characterization evidenced the existence of monoecious plants, finding individuals with male and female flowers in the same inflorescence. Fruit with four seeds was also found. The phenological study was divided into two phases and calculated in thermal requirement (°D): Vegetative [seedtime (0), germination (24), emergence (98), cotyledons (87), second (302) and fourth (524) true leaves, end of vegetative growth (302)] and reproductive [flowering (303), fructification (342), maturation (126), defoliation and senescence (450)]. The thermal constant (2558) was similar in all eight genotypes. The phenological stages and the accumulated degree days were adjusted with a third-degree polynomial (Stage = -0.0041x3 + 0.7446x2 - 8.6808x + 6.2448) (R2 = 0.99%) stage. The development of phenological models facilitates the prediction of the flowering date for the selection of varieties with high oil and protein content.

关键词： Degree-Days Monoecious Phenological Modeling Plant Breeding Varietal Selection

Broccoli products supplemented beers provide a sustainable source of dietary sulforaphane

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FOOD BIOSCIENCE 2023年第1期51卷 413-419页

作者： Sanchez-Bravo, Paola Abellan, angel Zapata, Pedro J. Garcia-Viguera, Cristina Dominguez-Perles, Raul Jose Gimenez, Maria Ctr Edafol & Biol Apliada segura CEBAS CSIC Lab Fitoquim & Alimentos Saludables LabFAS Univ Campus 25 Murcia 30100 Spain Univ Miguel Hernandez Dept Food Technol EPSO Ctra Beniel Km 3-2 Alicante 03312 Spain

Broccoli is a highly consumed vegetable due to its content of bioactive nutrients and non-nutrients, including glucosinolates and isothiocyanates. Also, the consumption of craft beer has been boosted by the seek for enhanced sensory and functional properties. In this frame, broccoli have been proven as an ingredient to develop healthy beverages. The objective of the work was to evaluate alternative broccoli materials (sprouts and byproducts powder) to go further from previous results, in a way contributing to the sustainability and circularity of the agro-food chain using underexploited material to supplement beers, which could be a sustainable dietary source of bioactive sulforaphane (SFN). The results showed high concentrations of SFN in beers supplemented with broccoli sprouts and powder (5.00 and 2.54 mg/L, respectively, previous to bottling). These concentrations remained stable until bottling, where they were reduced by >50%. After 150 storage days, the concentrations of SFN were 1.08 and 0.30 mg/L in beers supplemented with sprouts and powder, respectively. The sensory analysis revealed the positive attributes (colour, floral, fruity, and aftertaste as a result of the profile of volatile compounds) of beers developed using sprouts, and significant values of cooked vegetables, alcoholic, and earthy leather, which could be considered negative in beer. The latter negative tips are the ones offering sensory traits associated to ITC to broccoli-based beer. Therefore, the addition of broccoli in the format of fresh sprouts is more appropriate according to the SFN content and sensory features, providing a functional alternative that could be appreciated by consumers.

关键词： Healthy foods Beverages Brassica Isothiocyanates UHPLC-ESI-MS MS Sensory properties