Publications by authors named "Munoz D"

Background: Primary small vessel CNS vasculitis (sv-cPACNS) is a challenging inflammatory brain disease in children. Brain biopsy is mandatory to confirm the diagnosis. This study aims to develop and validate a histological scoring tool for diagnosing small vessel CNS vasculitis.

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Oculomotor behaviour changes in patients with Parkinson's disease (PD) are a promising source of prodromal disease markers. Capitalizing on this phenomenon to facilitate early diagnosis requires oculomotor assessment in prodromal cohorts. We examined oculomotor behaviour in non-manifesting LRRK2 G2019S mutation carriers (LRRK2-NM), who have heightened PD risk.

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Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.

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Non-arteritic anterior ischaemic optic neuropathy (NAION) is typically characterised by non-pallid optic disc oedema and a contralateral small optic nerve head. Typically, the optic cup is absent or small with a cup-to-disc ratio of less than 0.3 termed 'disc at risk'.

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Anurans are famous for having evolved a highly simplified skull through bone loss and fusion events. Nevertheless, their skeleton displays a rich morphological diversity associated with adaptations to diverse lifestyles and ecological niches. Here, we report larval skull ossification in the Andean toad Rhinella spinulosa (Bufonidae), and compare it to the phylogenetically distant genetic model organism Xenopus tropicalis (Pipidae).

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  • The pupil's responses are influenced by factors like light levels, arousal, and cognitive processes, making them useful for assessing brain function in both healthy individuals and those with diseases.
  • This study investigated pupil responses in a large sample of healthy participants aged 5 to 93 during a specific eye movement task, revealing age-related changes in pupil dynamics.
  • Findings suggest that variations in pupil responses across different ages may be linked to developmental and aging processes in the brain, offering insights for understanding pupil changes in neurological disorders.
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Background: The aim of this study was to analyze whether there are differences in performance indicators between matches played at different altitudes in professional padel.

Methods: Data were collected and analyzed based on players' sex, set number, and set score using video footage from the World Padel Tour (WPT), including open-access TV broadcasts and WPT's YouTube channel. Performance indicators - such as break points won, errors, winners, and winning smashes - were recorded across 1122 sets (485 matches) from three WPT seasons (2020-2022).

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Introduction: Hematopoietic cell transplantation (HCT) has become an essential therapeutic modality for pediatric patients with malignant and non-malignant conditions. Despite its effectiveness, many patients experience post-transplant complications often leading into life-threatening conditions requiring specialized care in a Pediatric Intensive Care Unit (PICU). This study aims to describe clinical characteristics associated with mortality in pediatric HCT patients who needed PICU care within 100 days post-transplant in a resource-limited country.

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Eye movements in daily life occur in rapid succession and often without a predefined goal. Using a free viewing task, we examined how fixation duration prior to a saccade correlates to visual saliency and neuronal activity in the superior colliculus (SC) at the saccade goal. Rhesus monkeys (three male) watched videos of natural, dynamic, scenes while eye movements were tracked and, simultaneously, neurons were recorded in the superficial and intermediate layers of the superior colliculus (SCs and SCi respectively), a midbrain structure closely associated with gaze, attention, and saliency coding.

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  • * A study involving 13 male cynomolgus macaques assessed how diet changes and social interactions impacted GM composition over a 15-month period, using controlled variables to reduce confounding factors.
  • * The findings revealed that diet changes significantly affected GM diversity, while social interactions only caused specific shifts in certain bacterial families, indicating that dietary influences are stronger than social ones in altering GM composition.
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Demyelination disrupts the transmission of electrical signals in the brain and affects neurodevelopment in children with disorders such as multiple sclerosis and myelin oligodendrocyte glycoprotein-associated disorders. Although cognitive impairments are prevalent in these conditions, some children maintain cognitive function despite substantial structural injury. These findings raise an important question: in addition to the degenerative process, do compensatory neural mechanisms exist to mitigate the effects of myelin loss? We propose that a multi-dimensional approach integrating multiple neuroimaging modalities, including diffusion tensor imaging, magnetoencephalography and eye-tracking, is key to investigating this question.

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The diagnosis of central nervous system tumours has been transformed in recent years from a microscopic morphology-based process to one dominated by the identification of somatic genetic alterations in tumour cells. This switch requires implementing radically different methods, for which appropriate training and financial resources must be allocated. The Canadian Association of Neuropathologists (CANP) has followed a process based on the scientific literature and consensus to develop recommendations for molecular testing of tumours of the brain and spinal cord, aiming to balance the need for treatment-determinant accurate diagnosis and the current limitations inherent in the transition to a new paradigm.

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  • Glioblastoma is a highly aggressive brain tumor with a low median survival rate of about 14.6 months, and its recurrence is inevitable despite current treatment methods like surgery and chemotherapy.
  • Researchers have found that the epigenetic modifier ID-1 plays a key role in glioblastoma's resistance to the chemotherapy drug temozolomide by promoting a specific metabolic process called one-carbon (1-C) mediated purine synthesis.
  • The study suggests that targeting the abnormal metabolic pathways in treatment-resistant glioblastoma cells could provide new therapeutic strategies to combat this aggressive cancer.
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The aims were to I. assess the differences in unforced errors between men's and women's professional padel players, II. assess the differences in unforced errors between winners and losers of the set in professional padel players, III.

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  • - Despite advances in breast cancer research, treatment for metastatic disease remains difficult, highlighting the need for better understanding of tumor progression and invasive behavior.
  • - Researchers focused on super-enhancers (SEs), which control important cancer-related genes, to identify critical regulators in breast cancer cells, leading to the discovery of ThPOK as a significant master regulator.
  • - ThPOK is more prevalent in luminal breast cancer and helps maintain a less invasive epithelial state by inhibiting genes tied to processes like epithelial-mesenchymal transition (EMT), suggesting that targeting ThPOK could be a potential therapeutic approach for limiting metastasis.
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Sex differences in patterns of cortical thickness and neuropsychiatric symptom (NPS) burden were examined among individuals with Alzheimer's disease (AD) and two copies (homozygote carriers) of the e4 allele of the apolipoprotein gene (APOE). A total of 752 participants with a clinical etiologic diagnosis of AD were selected from the National Alzheimer's Coordinating Center (NACC) database. Bayesian multilevel regression was used to examine both the within- and between-sex differences in gray-matter cortical thickness and total NPS burden associated with APOE homozygosity.

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Neoadjuvant intratumoral (IT) therapy could amplify the weak responses to checkpoint blockade therapy observed in breast cancer (BC). In this study, we administered neoadjuvant IT anti-canine PD-1 therapy (IT acPD-1) alone or combined with IT cowpea mosaic virus therapy (IT CPMV/acPD-1) to companion dogs diagnosed with canine mammary cancer (CMC), a spontaneous tumor resembling human BC. CMC patients treated weekly with acPD-1 (n = 3) or CPMV/acPD-1 (n = 3) for four weeks or with CPMV/acPD-1 (n = 3 patients not candidates for surgery) for up to 11 weeks did not experience immune-related adverse events.

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This study aimed to determine the distributions of number of shots per point, point duration, point pace and technical actions during the match in professional men and women padel players. A total of 35,145 hits (3239 points; men = 1602 and women = 1637) were analyzed in 20 matches corresponding to quarterfinal, semifinal and final matches of the World Padel Tour 2020 season. The observations were conducted through systematic observation and involved a total of 32 players (16 men and 16 women).

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Background: The oculomotor circuit spans many cortical and subcortical areas that have been implicated in psychiatric disease. This, combined with previous findings, suggests that eye tracking may be a useful method to investigate eating disorders. Therefore, this study aimed to assess oculomotor behaviors in youth with and without an eating disorder.

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Characterizing the population density of species is a central interest in ecology. Eastern North America is the global hotspot for biodiversity of plethodontid salamanders, an inconspicuous component of terrestrial vertebrate communities, and among the most widespread is the eastern red-backed salamander, . Previous work suggests population densities are high with significant geographic variation, but comparisons among locations are challenged by lack of standardization of methods and failure to accommodate imperfect detection.

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  • Scientists have been studying a mysterious part of the nervous system called the neuronal intranuclear rodlet (INR) for over a century, first discovered by early researchers like Santiago Ramon y Cajal.
  • This review discusses the history, significance, and recent findings about the INR, especially its strange behavior in diseases like Alzheimer's.
  • The authors reveal that these rodlets are actually bundles of a special enzyme and suggest that this new understanding could change how we look at brain cells in modern science.
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The Mediterranean diet, featuring sourdough bread, shows promise in managing metabolic syndrome. This study explored the effects of two sourdough breads, with differing fermentation times but similar nutritional profiles, on inflammation, satiety, and gut microbiota composition in adults with metabolic syndrome. In a double-blind clinical trial, participants were randomized to consume either Elias Boulanger long-fermentation (48 h) sourdough bread (EBLong) or Elias Boulanger short-fermentation (2 h) sourdough bread (EBShort) over a two-month period.

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  • Monitoring a deep geological repository for radioactive waste involves combining numerical simulations and online sensor data to predict the repository's long-term physical evolution and ensure it progresses toward closure effectively.
  • Data prediction is complex due to challenges like data quality, model complexity, and the need for feature selection, which can lead to discrepancies between simulated and real-world outcomes.
  • The paper discusses these challenges in the context of complex systems, showcasing how machine and deep learning methods are applied in a case study focused on monitoring thermal loading in a high-level waste cell at Andra's underground research lab.
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