Publications by authors named "Padilla N"

Aim: To describe the cortical brain development and full-IQ performance in middle school age children after extremely preterm (EPT) birth considering discrete white matter abnormalities (WMA). In addition, to assess possible early motor predictors of cortical brain development and full-IQ in children born EPT with and without discrete WMA diagnosed at 10 years.

Methods: T1-weighted MRI images from fifty-one children born before 27 weeks' gestation and 40 full-term born controls (M=10.

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  • The study aimed to evaluate how low-grade intraventricular hemorrhage (IVH) affects health outcomes in extremely preterm (EPT) children compared to those without IVH.
  • Conducted on 103 EPT children born between 2004-2007 in Stockholm, the study compared neonatal morbidities and neurodevelopmental assessments at 10 and 12 years, respectively.
  • Results showed that while children with low-grade IVH had more health complications during the neonatal period, there were no significant differences in brain volume or neurodevelopmental outcomes at later ages.
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  • - The study analyzed brain dynamics in 10 individuals with pharmacoresistant focal epilepsy and 30 healthy controls using resting-state functional MRI, focusing on how seizures start and spread.
  • - Findings revealed significant changes in global brain connectivity, with increased integration and flexibility, and specific regions showing paradoxical decreases in ignition within the seizure onset zone.
  • - The results contribute to a better understanding of epilepsy mechanisms and may help in creating diagnostic tools and therapies for seizure management.
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  • A new financial navigation (FN) intervention was developed and tested to help cancer patients dealing with financial toxicity, using a comprehensive screening tool to identify those in distress.
  • In the study involving 50 patients at the North Carolina Basnight Cancer Hospital, all participants screened positive for financial distress, and 46 patients completed the intervention, which included consultations with a trained financial navigator.
  • Results showed a significant improvement in perceived financial toxicity, with average scores rising from 6.4 to 13.3 after the intervention, and 96% of participants received financial assistance, indicating the intervention's effectiveness and high acceptance.
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  • Autoimmune Addison's disease (AAD) requires daily hormone replacement for cortisol and aldosterone, but current treatments often lead to unstable cortisol levels that may impact brain function.
  • A study compared working memory function in young adults with AAD to healthy controls, using MRI scans during cognitive tasks, and found no significant differences in performance or brain activity between the two groups.
  • The researchers acknowledge that variations in the AAD patient population could affect the results, suggesting the need for larger controlled studies to better understand the long-term impact of AAD on brain health.
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  • Fleas and ticks are carriers of pathogens like Rickettsia and Bartonella, which can cause diseases in humans and animals, yet little research exists on this in Guatemala.
  • The research involved collecting and analyzing fleas and ticks from dogs in rural Guatemala, revealing that a significant number of dogs were infested with these parasites.
  • The study identified new strains of Rickettsia and Bartonella in Guatemala, highlighting the potential zoonotic disease risk and demonstrating the importance of dogs in understanding human exposure to these pathogens.
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Unlabelled: Human cytomegalovirus (HCMV) is a ubiquitous herpesvirus found in human breast milk that is frequently transmitted from HCMV-seropositive mothers to their infants during the postnatal period. Despite extensive research, the mechanisms underlying HCMV transmission from breast milk and the anatomical location at which virus transfer takes place remain unclear. Breast milk contains many uniquely differentiated macrophages that undergo specific morphological and functional modifications in the mammary gland during lactation.

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Background: Children born extremely preterm (EPT) have altered brain volumes and cortical thickness and lower cognition than children born at term. Associations between these have remained largely unexplored, due to the lack of studies focusing on children born EPT.

Methods: Children underwent brain magnetic resonance imaging (MRI) at term and/or 10 years and cognitive assessments at 12 years.

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Background: Fleas and ticks serve as vectors of multiple pathogens in the genera and cause diseases in humans and other animals. Although human rickettsiosis and bartonellosis have been reported in all countries in Central America, limited research has been conducted to investigate the natural cycles of flea- and tick-borne rickettsiosis and bartonellosis, especially in Guatemala.

Methods: We evaluated dog parasites as sentinels for zoonotic disease risk in rural Guatemala by sampling ticks and fleas from dogs, which were then identified and individually screened for and .

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Next-generation sequencing (NGS) has revolutionized genetic diagnostics, yet its application in precision medicine remains incomplete, despite significant advances in computational tools for variant annotation. Many variants remain unannotated, and existing tools often fail to accurately predict the range of impacts that variants have on protein function. This limitation restricts their utility in relevant applications such as predicting disease severity and onset age.

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Heterochromatin stability is crucial for progenitor proliferation during early neurogenesis. It relays on the maintenance of local hubs of H3K9me. However, understanding the formation of efficient localized levels of H3K9me remains limited.

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Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this goal, the ARSA Critical Assessment of Genome Interpretation (CAGI) challenge was designed to characterize progress by utilizing 219 experimentally assayed missense VUS in the () gene to assess the performance of community-submitted predictions of variant functional effects. The challenge involved 15 teams, and evaluated additional predictions from established and recently released models.

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Purpose: Metastatic breast cancer (MBC) patients often face substantial financial burden due to prolonged and expensive therapy. However, in-depth experiences of financial burden among MBC patients are not well understood.

Methods: Qualitative interviews were conducted to describe the experiences of financial burden for MBC patients, focusing on the drivers of financial burden, their experience using their health insurance, accessing financial assistance, and any resulting cost-coping behaviors.

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Background: Hematophagous mosquitoes transmit many pathogens that cause human diseases. Pathogen acquisition and transmission occur when female mosquitoes blood feed to acquire nutrients for reproduction. The midgut epithelium of mosquitoes serves as the point of entry for transmissible viruses and parasites.

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Introduction: Islet transplantation (ITx) shows promise in treating T1D, but the role of islet autoantibodies on graft survival has not been clearly elucidated. We aimed to analyze the effect of GAD65 and IA2 autoantibody status on graft survival and attainment of insulin independence in subjects with T1D who underwent ITx.

Method: We conducted a retrospective cohort study on 47 ITx recipients from 2000 to 2018.

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Background: Financial navigation (FN) is an evidence-based intervention designed to address financial toxicity for cancer patients. FN's success depends on organizations' readiness to implement and other factors that may hinder or support implementation. Tailored implementation strategies can support practice change but must be matched to the implementation context.

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Background: Children born preterm are more prone to have language difficulties. Few studies focus on children born extremely preterm (EPT) and the structural differences in language-related regions between these children and children born at term.

Methods: Our study used T1-weighted magnetic resonance imaging (MRI) scans to calculate the brain volumetry, brain asymmetry, and cortical thickness of language-related regions in 50 children born EPT and 37 term-born controls at 10 years of age.

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  • Establishing the pathogenicity of variants in the ATM gene is essential for patient care in hereditary cancers, yet variant classification remains challenging.
  • To tackle this, researchers developed user-friendly graphical tools that provide a comparative analysis of variants, enhancing understanding of their potential impacts.
  • These tools have been effectively applied to assess computational predictions, prioritize variants of unknown significance, and evaluate existing guidelines, with an online server (ATMision) created for broader use in variant interpretation.
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We recently described a subgroup of autopsied COVID-19 subjects (∼40%), termed 'profibrotic phenotype,' who exhibited clusters of myofibroblasts (Mfbs), which were positive for the collagen-specific chaperone heat shock protein 47 (HSP47) in situ. This report identifies increased, localized (hot spot restricted) expression of αSMA, COLα1, POSTN and FAP supporting the identity of HSP47 cells as myofibroblasts and characterizing a profibrotic extracellular matrix (ECM) phenotype. Coupled with increased GRP78 in COVID-19 subjects, these data could reflect induction of the unfolded protein response for mitigation of proteostasis (i.

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Context: Individuals with autoimmune Addison disease (AAD) take replacement medication for the lack of adrenal-derived glucocorticoid (GC) and mineralocorticoid hormones from diagnosis. The brain is highly sensitive to these hormones, but the consequence of having AAD for brain health has not been widely addressed.

Objective: The present study compared resting-state functional connectivity (rs-fc) of the brain between individuals with AAD and healthy controls.

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The microbiome is increasingly implicated in playing a role in physiology and pharmacology; in this review, we investigate the literature on the possibility of bacterial influence on the pharmacology of anti-asthmatic drugs, and the potential impact this has on asthmatic patients. Current knowledge in this area of research reveals an interaction between the gut and lung microbiome and the development of asthma. The influence of microbiome on the pharmacokinetics and pharmacodynamics of anti-asthmatic drugs is limited; however, understanding this interaction will assist in creating a more efficient treatment approach.

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Pathogenicity predictors are computational tools that classify genetic variants as benign or pathogenic; this is currently a major challenge in genomic medicine. With more than fifty such predictors available, selecting the most suitable tool for clinical applications like genetic screening, molecular diagnostics, and companion diagnostics has become increasingly challenging. To address this issue, we have developed a cost-based framework that naturally considers the various components of the problem.

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This report discusses the components and uptake of a holistic-health community-based service program designed to promote mental health among Latina breast cancer survivors and their caregivers. Salud Holística para la Mujer's (SAHOM) strategic plan tackled all phases of the mental health prevention continuum and of the cancer care continuum.

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  • Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
  • EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
  • The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
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Herein, we describe an unusually prolonged duration (31 months) of the clinical remission phase in a 22-year-old Italian man with new-onset type 1 diabetes. Shortly after the disease diagnosis, the patient was treated with calcifediol (also known as 25-hydroxyvitamin D3 or calcidiol), coupled with low-dose basal insulin, to correct hypovitaminosis D and to exploit the anti-inflammatory and immunomodulatory properties of vitamin D. During the follow-up period, the patient retained a substantial residual β-cell function and remained within the clinical remission phase, as evidenced by an insulin dose-adjusted glycated hemoglobin value <9.

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