Publications by authors named "Carrasco E"

This study introduces a quantitative risk assessment (QRA) model aimed at evaluating the risk of invasive listeriosis linked to the consumption of ready-to-eat (RTE) smoked and gravad fish. The QRA model, based on published data, simulates the production process from fish harvest through to consumer intake, specifically focusing on smoked brine-injected, smoked dry-salted, and gravad fish. In a reference scenario, model predictions reveal substantial probabilities of lot and pack contamination at the end of processing (38.

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  • Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
  • The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
  • Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
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Calcium (Ca) functions as a universal signal messenger in eukaryotes but in bacteria, the physiological roles for Ca are limited. Here, we examine the role of Ca in during manganese (Mn) intoxication. mutants, lacking the Mn efflux transporter, exhibit impaired growth due to accumulation of Mn when exposed to elevated exogenous Mn.

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  • Young women with breast cancer have a higher likelihood of carrying harmful BRCA gene variants, but data on tumor histology's prognostic value is limited.
  • A study involving 4,628 patients revealed that lobular tumors are generally diagnosed at a later stage and are more often linked to BRCA2 mutations, while ductal tumors are frequently associated with BRCA1 mutations.
  • Despite differences in tumor characteristics and treatment approaches, the study found no significant differences in disease-free or overall survival between those with ductal and lobular tumors, indicating that histology may not influence prognosis.
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Squamous Cell Carcinoma (SCC) is a subtype of Non-Melanoma Skin Cancer, the most common group of malignancies worldwide. Photodynamic therapy (PDT) is a non-invasive treatment approved for specific subtypes of SCC. Some malignancies resist PDT, forming more aggressive tumors and multiple relapses.

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Blue light exposure of the ocular apparatus is currently rising. This has motivated a growing concern about potential deleterious effects on different eye structures. To address this, ARPE-19 cells were used as a model of the retinal pigment epithelium and subjected to cumulative expositions of blue light.

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Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

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  • Breast cancer (BC) is rare in women aged ≤40 years with BRCA1/2 variants, but it often presents aggressive features; recent studies show HER2-low expression as a potential treatment target in this subset.
  • A study analyzed data from 3,547 young women with newly diagnosed HER2-negative BC, finding that 32.3% exhibited HER2-low status, which was more common in hormone receptor-positive and BRCA2 variant cases.
  • Results indicated that HER2-low BC had better disease-free survival (DFS) and overall survival (OS) compared to HER2-0, particularly in triple-negative tumors, with lower grades and more favorable outcomes linked to BRCA2 variants.
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Background: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD diagnosis and the characterization of microsatellite instability (MSI) patterns in blood and tumors.

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Salmonella is the most frequently reported cause of foodborne outbreaks with known origin in Europe, with eggs and egg products standing out as the most frequent food source (when it was known). The growth and survival of Salmonella in eggs and egg products have been extensively studied and, recently, it has been reported that factors such as the initial concentration and thermal history of the egg product can also influence its growth capability. Therefore, the objective of this study was to define the boundary zones of the growth/no growth domain of Salmonella Enteritidis (4 strains) as a function of temperature (low temperature boundary) and the initial concentration in different egg products.

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Background: New-generation imaging techniques and the increasing use of surgery in high-risk prostate cancer (PCa) allow us to detect many cases of nodal disease at initial diagnosis or after resection. The treatment of PCa with pathologic regional nodes has evolved from the exclusive use of systemic therapy to its combination with locoregional treatment. It can also represent a benefit in the overall survival.

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Importance: Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy in breast cancer survivors included limited data regarding BRCA carriers.

Objective: To investigate cumulative incidence of pregnancy and disease-free survival in young women who are BRCA carriers.

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Purpose: The present study aims to translate, adapt and validate a Spanish version of the Knee Injury and Osteoarthritis Outcome Score, Joint Replacement (KOOS, JR), including a reliability and validity analysis in patients with knee osteoarthritis (OA).

Methods: This study conducted a prospective validation study following the six stages of the "Guidelines for the Process of Cross-Cultural Adaptation of Self-Report Measures". Psychometric testing was conducted in patients with knee osteoarthritis.

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  • Breast cancer diagnosed during pregnancy (PrBC) and postpartum (PPBC) tends to be found at more advanced stages, leading to a poorer prognosis, especially with PPBC being very aggressive.
  • Researchers discovered that cell-free tumor DNA (ctDNA) can be detected in breast milk (BM) from breast cancer patients, showing higher detection rates compared to plasma samples.
  • This study suggests that using BM for ctDNA analysis could serve as a novel liquid biopsy method, allowing for earlier detection of breast cancer, even months before standard diagnosis techniques.
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Measurements of ecosystem carbon (C) fluxes in temperate forests are concentrated in the Northern Hemisphere, leaving the functionally diverse temperate forests in the Southern Hemisphere underrepresented. Here, we report three years (February 2018-January 2021) of C fluxes, studied with eddy-covariance and closed chamber techniques, in an endangered temperate evergreen rainforest of the long-lived paleoendemic South American conifer . Using classification and regression trees we analyzed the most relevant drivers and thresholds of daily net ecosystem exchange (NEE) and soil respiration.

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Squamous cell carcinomas arise from stratified squamous epithelia. Here, a comparative analysis based on recent studies defining the genetic alterations and composition of the stroma of oral and cutaneous squamous cell carcinomas (OSCC and CSCC, respectively) was performed. Both carcinomas share some but not all histological and genetic features.

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Purpose: The monarchE trial showed that the addition of abemaciclib improves efficacy in patients with high-risk early breast cancer (EBC). We analyzed the long-term outcomes of a population similar to the monarchE trial to put into context the potential benefit of abemaciclib.

Methods: HR-positive/HER2-negative EBC patients eligible for the monarchE study were selected from 3 adjuvant clinical trials and a breast cancer registry.

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  • * A study analyzed liquid biopsies from 16 FA patients without clinical signs of oral cancer, finding mutations in cancer genes in 9 of them; those with mutations almost all went on to develop significant oral lesions or cancer.
  • * This new diagnostic approach could help identify FA patients at higher risk of oral cancers, improving monitoring and treatment outcomes.
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Clinical and familial factors predict psychological distress after genetic testing for cancer susceptibility. However, the contribution of an individual's psychological background to such distress is unclear. This study aims to analyze the psychological impact of genetic testing and to identify the profile of individuals at higher risk.

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  • Waste valorisation is reshaping how we view biowaste, transforming it from waste to a valuable resource for creating various products, especially in bioenergy generation.
  • Bioenergy production focuses on analyzing biowaste composition and conversion potential, utilizing different waste types like food, agriculture, beverage, and municipal solid waste for renewable energy.
  • Despite its promise, bioenergy generation from biowaste is still developing and needs more interdisciplinary research to become a sustainable alternative to traditional energy sources, with a focus on microbial fuel cells and bioreactor innovations.
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Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their decision are virtually non-existant in Europe. In this work, we report the acceptance rate of SFs, calculate their prevalence and study factors associated with the decision in a cohort of patients affected with a rare genetic disorder in a Spanish Hospital.

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Background/objectives: Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer susceptibility genes (CSG), their clinical actionability and the psychological impact in individuals with an SF/IF (cases) compared with individuals tested due to their cancer history (controls).

Methods: This study analysed 533 exomes ordered for non-cancer conditions.

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Oxidative stress is a harmful effect induced on the skin by polycyclic aromatic hydrocarbons (PAH), including benzo[a]pyrene (BaP) air pollutants. This effect is amplified by the additive damaging effect of the sun, especially through the UVA light component. Besides being one of the main compounds that make up air pollution, BaP can also be found in tar, tobacco smoke, and various foods.

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Fanconi anemia (FA) patients frequently develop oral squamous cell carcinoma (OSCC). This cancer in FA patients is diagnosed within the first 3-4 decades of life, very often preceded by lesions that suffer a malignant transformation. In addition, they respond poorly to current treatments due to toxicity or multiple recurrences.

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