Publications by authors named "Simon Heredia"

Pericardial lymphangiomas are exceptionally rare and affect both children and adults. Although they are usually asymptomatic, they can cause symptoms secondary to the mass effect, from syncope or palpitations to arrhythmia or congestive heart failure. The most reliable diagnostic methods are echocardiography, computed tomography, and magnetic resonance imaging, with subsequent confirmation by histopathology.

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  • The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
  • Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
  • The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
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Gallstone ileus is an uncommon cause of mechanical bowel obstruction in patients with cholecystitis and gallstones who develop a fistula over time. In the post-cholecystectomy patient, the presence of gallstone ileus is extremely rare; these patients have different pathophysiological pathways, such as a spilled gallstone that subsequently erodes into the bowel, subtotal cholecystectomies, and diverticulae that can hold a gallstone for hidden several years. In these patients, the clinical presentations are unique because of their rarity and because the gallbladder had been previously removed.

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Introduction: ECLIM-SEHOP platform was created in 2017. Its main objective is to establish the infrastructure to allow Spanish participation into international academic collaborative clinical trials, observational studies, and registries in pediatric oncology. The aim of this manuscript is to describe the activity conducted by ECLIM-SEHOP since its creation.

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Background: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms.

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  • The study aimed to translate and culturally adapt a scale measuring attitudes towards alcohol, alcoholism, and alcoholics into Spanish.
  • During the adaptation process, the scale was modified to ensure semantic, idiomatic, and conceptual equivalence, resulting in strong content validation metrics.
  • The adapted scale showed satisfactory content validity for use in Colombia, with future steps focused on assessing its reliability among Hispanic populations.
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Fragile X syndrome (FXS), the most prevalent form of inherited mental retardation, is caused by the lack of FMRP (fragile mental retardation protein) as a result of the transcriptional silencing of the FMR1 gene. Here we analyze the immunohistochemical expression of the calbindin D28K protein in the hippocampus of Fmr1 knockout (KO) mice and compare it with that of their wildtype (WT) littermates. The spatial distribution pattern of calbindin-immunoreactive cells in the hippocampus was similar in WT and KO mice but for each age studied (ranging from 3.

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  • DNA methylation changes can impact gene expression and be passed down through generations, contributing to heritable traits without altering the DNA sequence.
  • Researchers created epigenetic Recombinant Inbred Lines (epiRILs) of Arabidopsis thaliana with similar DNA sequences but different methylation patterns to study these effects.
  • The study found significant heritability in traits like flowering time and plant height, with stable epialleles maintained for over eight generations, emphasizing the importance of considering epigenetics in population genetics research.
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