Background: The objective of this study was to evaluate the use of telomere length measurements as diagnostic biomarkers during early screening for lung cancer in high-risk patients.
Methods: This was a prospective study of patients undergoing lung cancer diagnosis at two Spanish hospitals between April 2017 and January 2020. Telomeres from peripheral blood lymphocytes were analysed by Telomere Analysis Technology, which is based in high-throughput quantitative fluorescent in situ hybridization.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFGlob Adv Integr Med Health
December 2024
Introduction: Many cancer patients experience high levels of anxiety during chemotherapy, which can negatively impact their mental health and their physiological, emotional, and spiritual well-being. Different complementary therapies aim to attenuate these effects, including music therapy. Although there is preliminary evidence on the positive effects of music therapy and music-based interventions in chemotherapy wards, few studies report live group interventions delivered by accredited music therapists.
View Article and Find Full Text PDFThe differential diagnosis of neurocognitive and psychiatric disorders, particularly when symptoms overlap significantly, poses a substantial challenge in clinical practice. Parkinson's disease (PD), Lewy body dementia, and catatonia are distinct conditions that can present with similar motor and cognitive symptoms, complicating accurate diagnosis and effective treatment. We report the case of a 45-year-old male patient who presented for electroconvulsive therapy (ECT) evaluation.
View Article and Find Full Text PDFMinerva Endocrinol (Torino)
December 2024
Background: Bariatric surgery (BS) stands as a highly effective intervention for severe obesity; however, limited understanding exists regarding its short to medium-term complications. This study aimed to analyze short-medium term complications in patients undergoing BS in an Ecuadorian hospital.
Methods: A retrospective cohort study included 1132 patients who underwent BS between October 2021 and April 2022, specifically evaluating those with complications needing hospital readmission.
Background: As nurses care for patients at the end of life, they face situations that affect not only their jobs, but other aspects of their lives. However, there is very little research on the psychological impact of caring for terminally ill patients, the challenges that nurses face and their specific coping strategies have not been the subject of much research.
Aim: To synthesise the psychological behaviour of nurses working with terminally ill patients and identify their concept of death after caring for terminally ill patients.
Introduction: Sedating and anesthetic drugs are widely used in clinical practice; however, relevant teaching remains underrepresented in undergraduate medical education. We developed a 2-hour flipped classroom activity integrating foundational science topics, evidence-based medicine, and clinical reasoning on anesthetic pharmacology for preclinical medical students.
Methods: Presession, second-year medical students reviewed a study guide and completed a readiness assessment.
In this work we introduce Target Fisher, a consensus structure-based target prediction tool that integrates molecular docking and machine learning with the aim to aid in the identification of potential biological targets and the optimization of the use of bioassays. Target Fisher uses per-residue energy decomposition profiles extracted from docking poses as fingerprints to train target-specific machine learning models. It provides predictions for a curated set of 37 protein targets, covering a diverse range of biological entities, and offers a user-friendly interface accessible via a web server (https://gqc.
View Article and Find Full Text PDFObjective: This study aims to provide rapid and up-to-date evidence on the effectiveness of Health at Every Size (HAES) interventions compared to controls or other conventional approaches in individuals with overweight or obesity, with the goal of developing more effective and body-diverse respectful strategies.
Methods: A review of literature was carried out using the following databases: PubMed, Scopus, Embase, Web of Science, and SciELO. Research articles were selected based on predefined inclusion and exclusion criteria.
Background: Abrocitinib, a selective JAK 1 inhibitor, was recently approved in Europe. Despite its approval, real-world data on its efficacy and safety in treating moderate-to-severe atopic dermatitis (AD) remains limited.
Objectives: This study aimed to evaluate the short-term effectiveness and safety of abrocitinib in a real-life setting for patients with moderate-to-severe AD.
The classification of amino acids has proven to be a useful tool for understanding the importance of sequence in protein function. The reduced amino acid alphabets are an example of these classifications, which, when built from physicochemical, structural and quantum characteristics of the amino acids, allow it to simplify the representation of the sequences, being useful in the modelling, design and understanding of proteins. So, an objective selection of amino acids properties is important, due classes formed in a reduced alphabet depend on the descriptors used for classification.
View Article and Find Full Text PDFObjective: Diabetes mellitus is a growing disease with severe complications. Various scores predict the risk of developing this pathology. The amount of muscle mass is associated with insulin resistance, yet there is no established evidence linking muscle mass with diabetes risk.
View Article and Find Full Text PDFWe addressed the question of mitochondrial lactate metabolism using genetically-encoded sensors. The organelle was found to contain a dynamic lactate pool that leads to dose- and time-dependent protein lactylation. In neurons, mitochondrial lactate reported blood lactate levels with high fidelity.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
September 2024
Background: Infants with small bowel stomas (SBstoma) frequently struggle with absorption and rely on parenteral nutrition (PN). Intestinal absorption is difficult to predict based solely on intestinal anatomy. The purpose of this study was to characterize the microbiota and metabolic by-products within stoma effluent and correlate with clinical features and intestinal absorption.
View Article and Find Full Text PDFPurpose Of Review: This review aims to critically examine how VLCKD affects plasma lipoprotein, lipid and cholesterol metabolism. Cardiovascular disease is a worldwide health problem affecting millions of people and leading to high rates of mortality and morbidity. There is a well-established association between cardiovascular disease and circulating cholesterol.
View Article and Find Full Text PDFWe identify a population of Protogenin-positive (PRTG) MYC NESTIN stem cells in the four-week-old human embryonic hindbrain that subsequently localizes to the ventricular zone of the rhombic lip (RL). Oncogenic transformation of early Prtg rhombic lip stem cells initiates group 3 medulloblastoma (Gr3-MB)-like tumors. PRTG stem cells grow adjacent to a human-specific interposed vascular plexus in the RL, a phenotype that is recapitulated in Gr3-MB but not in other types of medulloblastoma.
View Article and Find Full Text PDFThe Polycomb Repressive Complex 2 (PRC2) regulates corticogenesis, yet the consequences of mutations to this epigenetic modifier in the mature brain are poorly defined. Importantly, PRC2 core genes are haploinsufficient and causative of several human neurodevelopmental disorders. To address the role of PRC2 in mature cortical structure and function, we conditionally deleted the PRC2 gene Eed from the developing mouse dorsal telencephalon.
View Article and Find Full Text PDFBackground And Aims: We aimed to identify serum metabolites associated with mucosal and transmural inflammation in paediatric Crohn disease [pCD].
Methods: In all, 56 pCD patients were included through a pre-planned sub-study of the multicentre, prospective, ImageKids cohort, designed to develop the Paediatric Inflammatory Crohn magnetic resonance enterography [MRE] Index [PICMI]. Children were included throughout their disease course when undergoing ileocolonoscopy and MRE and were followed for 18 months, when MRE was repeated.
Exclusive enteral nutrition (EEN) is effective in inducing remission in pediatric Crohn disease (CD). EEN alters the intestinal microbiome, but precise mechanisms are unknown. We hypothesized that pre-diagnosis diet establishes a baseline gut microbiome, which then mediates response to EEN.
View Article and Find Full Text PDFWhen we reflect on medical education as a whole, novelty in structure and content promotes growth and enhances student outcomes. The teaching of neurology is no different and presents a more unique hurdle in its instruction considering the well-described phenomenon of . With the burden of neurological diseases on the rise, there is a heightened demand for medical educators to understand the possible causes of this educational misalignment and implement solutions necessary to ensure adequate education of students.
View Article and Find Full Text PDFThe regulatory EMA's reference scaled average bioequivalence (RSABE) approach for highly variable drugs suffers from some type I error control problems at the neighborhood of the 30% coefficient of variation (CV), where the bioequivalence (BE) limits change from constant to linearly scaled. This paper analyses BE inference methods based on the "Leveling-off" (LO) soft sigmoid expanding BE limits that were proposed as an appealing surrogate for the EMA's limits and compares both approaches, on the replicated and partially replicated crossover designs. The initially proposed version of the LO method also has type I error inflation problems, albeit attenuated.
View Article and Find Full Text PDFFurunculosis, caused by , poses a significant threat to both salmonid and non-salmonid fish in diverse aquatic environments. This study explores the genomic intricacies of re-emergent outbreaks in Atlantic salmon (). Previous clinical cases have exhibited pathological characteristics, such as periorbital hemorrhages and gastrointestinal abnormalities.
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