Copper nano metal-organic framework paper-based sensor for dual optical detection of biogenic amines to evaluate the food freshness.

The improvement of food safety and the reduction of food loss and waste require the development of new bioanalytical tools that provide chemical information about the composition of food that is of great value for improving traceability and extending the shelf life of food. Herein, a Cu-based metal-organic framework has been synthesized and immobilized onto cellulose paper disks for colorimetric and fluorescent detection and quantification of biogenic amines in food. The color of the nano metal-organic framework changes from green to brown in the presence of low amounts of biogenic amine vapors.

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.

Background And Aims: Cancer predisposition goes beyond BRCA and DNA Mismatch Repair (MMR) genes since multi-gene panel testing has become the routine diagnostic tool for hereditary cancer suspicion (HCS) cases. CHEK2 and PALB2 are some of the foremost-mutated non-BRCA/MMR actionable genes in families with a significant familial aggregation. Therefore, the purpose of this work is to unravel which tumours other than breast, ovary or colorectal display the patients.

Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases.

Triple negative breast cancer is considered as the worst aggressive subtype with poor prognosis. Recent studies suggest a hereditary component is involved in TNBC development, especially in young patients. However, genetic spectrum remains unclear.

Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?

The probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon, except in populations where founder effects exist. Two breast cancer women that are double heterozygotes (DH) for both , one ovarian cancer case DH for and another breast and colorectal cancer who is DH for were identified in our cohort. Ages at diagnosis and severity of disease in DH resembled single-carrier features.

Histamine signaling and metabolism identify potential biomarkers and therapies for lymphangioleiomyomatosis.

Inhibition of mTOR is the standard of care for lymphangioleiomyomatosis (LAM). However, this therapy has variable tolerability and some patients show progressive decline of lung function despite treatment. LAM diagnosis and monitoring can also be challenging due to the heterogeneity of symptoms and insufficiency of non-invasive tests.

Potential inoculum sources of Fusarium species involved in asparagus decline syndrome and evaluation of soil disinfestation methods by qPCR protocols.

Background: Asparagus decline syndrome (ADS), one of the most important diseases affecting asparagus crops, causes important yield losses worldwide. Fusarium proliferatum, F. oxysporum and F.

ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report.

Background: Tumor molecular screening allows categorization of molecular alterations to select the best therapeutic strategy. AT-rich interactive domain-containing 1A (ARID1A) gene mutations are present in gastric, endometrial, and clear cell ovarian tumors. Inactivation of this gene impairs mismatch repair (MMR) machinery leading to an increased mutation burden that correlates with microsatellite instability (MSI), associated with tumor-infiltrating lymphocytes and programmed death ligand 1 (PD-L1) expression.

Fusarium Consortium Populations Associated with Asparagus Crop in Spain and Their Role on Field Decline Syndrome.

Asparagus Decline Syndrome (ADS) is one of the main phytosanitary problems of asparagus crop worldwide. Diseased plants and soil samples from 41 fields from three main production areas of Spain were surveyed. Eight species belonging to seven species complexes were identified in soils: , , , , , , and .

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations.

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

In this study, we aim to gain insight in the germline mutation spectrum of , , , , , and in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom a germline mutation in BRCA1 and BRCA2 was previously ruled out. The importance of disease-causing variants in these genes lies in the fact that they may have possible therapeutic implications according to clinical guidelines.

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Background: In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that frequently renders uninformative genetic results. This study aims to examine the improved yield offered by an On-Demand panel.

Asymmetric Transfer Hydrogenation of Arylketones Catalyzed by Enantiopure Ruthenium(II)/Pybox Complexes Containing Achiral Phosphonite and Phosphinite Ligands.

A family of complexes of the formula -[RuCl(L)(R-pybox)] (R-pybox = (,)-Pr-pybox, (,)-Ph-pybox, L = monodentate phosphonite, PPh(OR), and phosphinite, L = PPh(OR), ligands) were screened in the catalytic asymmetric transfer hydrogenation of acetophenone, observing a strong influence of the nature of both the R-pybox substituents and the L ligand in the process. The best results were obtained with complex -[RuCl{PPh(OEt)}{(,)-Ph-pybox}] (), which provided high conversion and enantioselectivity (up to 96% enantiomeric excess, ) for the reduction of a variety of aromatic ketones, affording the ()-benzylalcohols.

SEOM clinical guideline on hereditary colorectal cancer (2019).

In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics.

Genetic Diversity and Vegetative Compatibility of Species Complex of Strawberry in Spain.

is a soilborne fungus that is a pathogen to >100 plant species. It is the causal agent of crown and root rot in strawberry. We collected 100 isolates from diseased plants and soils from two distinct geographic areas of strawberry production in Spain: plant nurseries located in the north-central region of the country and fruit production fields located in the southwestern region.

Characterization of Populations Associated with Spanish Strawberry Crops.

is an emerging pathogen reported on Spanish strawberry crops both in nurseries and in fruit production fields, causing wilt and root rot. Pathogenicity, morphocultural characteristics, and sensitivity to biocides of 103 isolates recovered from symptomatic strawberry plants and soils from both Spanish strawberry areas were determined. The differences of isolates within and between nurseries and field crops in relation to these parameters were analyzed.

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Explaining genetic predisposition in Hereditary Breast and Ovarian Cancer (HBOC) families without BRCA mutations is crucial. Germline PALB2 inactivating mutations were associated with an increased risk of HBOC due to its role in DNA repair through cooperation with BRCA proteins. The prevalence and penetrance of PALB2 mutations in Spanish HBOC patients remains unexplained.

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.

BRIP1 is a component of the Fanconi Anemia/BRCA pathway responsible for DNA reparation via helicase activity. Some heterozygous variants in BRIP1 could contribute to Hereditary Breast Cancer through a defective DNA repair. The clinical utility of BRIP1 mutations in a familial cancer context is compromised by the conflicting interpretation of "variants of uncertain significance" (VUS).

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.

Purpose: Promoter mutations may affect transcription and can be associated with human diseases. However, the promoters of the breast cancer (BC) genes are not regularly screened. Our goal was to investigate the BRCA2 promoter in order to study a possible correlation between impaired transcription and disease.

Synthesis of Silver(I) and Gold(I) Complexes Containing Enantiopure Pybox Ligands. First Assays on the Silver(I)-Catalyzed Asymmetric Addition of Alkynes to Imines.

Dinuclear complexes [Ag2(CF3SO3){(S,S)-(i)Pr-pybox}2][CF3SO3] (1), [Ag2(R-pybox)2][X]2 [R-pybox = 2,6-bis[4-(S)-isopropyloxazolin-2-yl]pyridine (S,S)-(i)Pr-pybox and X = PF6 (2) and BF4 (3); R-pybox = 2,6-bis[(3aS,8aR)-8,8a-dihydro-3aH-indeno[1,2-d]oxazol-2-yl]pyridine (3aS,3a'S,8aR,8a'R)-indane-pybox and X = CF3SO3 (4)], [Ag2{(S,S)-(i)Pr-pybox}{(3aS,3a'S,8aR,8a'R)-indane-pybox}][CF3SO3]2 (5), and [Ag2(R-pybox)3][X]2 [R-pybox = (3aS,3a'S,8aR,8a'R)-indane-pybox and X = CF3SO3 (10), SF6 (11), and PF6 (12)] as well as mononuclear complexes [Ag(R-pybox)2][X] [R-pybox = (S,S)-(i)Pr-pybox and X = SbF6 (6), PF6 (7), and BF4 (8); R-pybox = (3aS,3a'S,8aR,8a'R)-indane-pybox) and X = BF4 (9)] have been prepared by the reaction of the corresponding silver salts and pybox ligands using the appropriate molar ratio conditions. The first gold(I)/pybox complex [Au6Cl4{(S,S)-(i)Pr-pybox}4][AuCl2]2 (13) has been synthesized by the reaction of [AuCl{S(CH3)2}] and (S,S)-(i)Pr-pybox (1:1 molar ratio) in acetonitrile. The structures of the dinuclear (1, 4, 5, 10, and 11) and mononuclear (6 and 9) silver complexes and the hexanuclear gold complex 13 have been determined by single-crystal X-ray diffraction analysis.

SEOM clinical guidelines in Hereditary Breast and ovarian cancer.

Approximately, 7 % of all breast cancers (BC) and 11-15 % of ovarian cancers (OC) are associated with inherited predisposition, mainly related to germline mutations in high penetrance BRCA1/2 genes. Clinical criteria for genetic testing are based on personal and family history to estimate a minimum 10 % detection rate. Selection criteria are evolving according to new advances in this field and the clinical utility of genetic testing.

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

Identification of genes associated with hereditary cancers facilitates management of patients with family histories of cancer. We performed exome sequencing of DNA from 3 individuals from a family with colorectal cancer who met the Amsterdam criteria for risk of hereditary nonpolyposis colorectal cancer. These individuals had mismatch repair-proficient tumors and each carried nonsense variant in the FANCD2/FANCI-associated nuclease 1 gene (FAN1), which encodes a nuclease involved in DNA inter-strand cross-link repair.

Highly enantioselective hydrogenation of N-aryl imines derived from acetophenones by using Ru-pybox complexes under hydrogenation or transfer hydrogenation conditions in isopropanol.

The asymmetric reduction of N-aryl imines derived from acetophenones by using Ru complexes bearing both a pybox (2,6-bis(oxazoline)pyridine) and a monodentate phosphite ligand has been described. The catalysts show good activity with a diverse range of substrates, and deliver the amine products in very high levels of enantioselectivity (up to 99 %) under both hydrogenation and transfer hydrogenation conditions in isopropanol. From deuteration studies, a very different labeling is observed under hydrogenation and transfer hydrogenation conditions, which demonstrates the different nature of the hydrogen source in both reactions.

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

Background: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported.

Patients And Methods: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives.

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

BRCA2-c.2808_2811del (3036delACAA) is one of the most reported germ line mutations in non-Ashkenazi breast cancer patients. We investigated its genetic origin in 51 Spanish carrier families that were genotyped with 11 13q polymorphic markers.

Antitumor activity of new enantiopure pybox-ruthenium complexes.

New ruthenium complexes containing enantiopure 2,6-bis[4'(R)-phenyloxazolin-2'-il-pyridine] ((R,R)-Ph-pybox), 2,6-bis[4'(S)-isopropyloxazolin-2'-il-pyridine] ((S,S)-(i)Pr-pybox) or 2,6-bis[4'(R)-isopropyloxazolin-2'-il-pyridine] ((R,R)-(i)Pr-pybox) and water soluble 1,3,5-triaza-7-phosphaadamantane (PTA) or N-substituted PTA phosphanes have been synthesized in high yields and fully characterized. The interactions of these compounds with plasmidic DNA and their cytotoxic activity against the human cervical cancer HeLa cell line are reported, pointing out for the first time the different behaviour of ruthenium enantiomers affecting the cell cycle in HeLa tumor cells.