Publications by authors named "Mar D"

Introduction: Large language models (LLMs) such as ChatGPT can potentially transform the delivery of health information. This study aims to evaluate the accuracy and completeness of ChatGPT in responding to questions on recombinant zoster vaccination (RZV) in patients with rheumatic and musculoskeletal diseases.

Methods: A cross-sectional study was conducted using 20 prompts based on information from the Centers for Disease Control and Prevention (CDC), the Advisory Committee on Immunization Practices (ACIP), and the American College of Rheumatology (ACR).

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Introduction: While there is some data on the bone health of transgender individuals, less is known about their fracture patterns. The authors of this study aimed to describe the anatomic locations of fractures and the prevalence of select comorbidities among transgender patients who presented with fractures at a single institution.

Methods: The authors conducted a retrospective chart review of patients with fractures at a single institution between January 2020 and January 2021.

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  • In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European countries.
  • A genome-wide association study revealed a specific single nucleotide polymorphism (rs570516915) strongly linked to CP in the Finnish population, showing significant statistical results and confirmed in other cohorts.
  • The risk allele for rs570516915 disrupts a binding site for the IRF6 transcription factor, leading to decreased IRF6 expression, indicating that this genetic alteration may be a key factor in the mechanism causing CP.
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  • Precision oncology relies on biomarkers, with MGMT gene promoter methylation being a critical clinical biomarker for glioblastoma multiforme (GBM).
  • Time-consuming preanalytical processes like biospecimen storage and intratumor methylation variability can affect data reproducibility, but research showed that standard processing techniques do not significantly alter MGMT methylation assessment.
  • Despite consistent methods yielding reliable results, a significant portion of GBM specimens (26%-34%) displayed intratumor methylation heterogeneity, highlighting the necessity for multiple biopsies to accurately evaluate MGMT status.
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  • Salivary gland issues often occur in patients with rheumatologic diseases, highlighting their importance in diagnosis and treatment.
  • The authors discuss the basic anatomy of major salivary glands and their relevance to these diseases.
  • They also explore various imaging techniques, including ultrasound, MRI, CT scans, sialography, and scintigraphy, which help assess salivary gland health in patients with rheumatologic conditions.
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  • In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European nations.
  • A genome-wide association study identified a specific SNP (rs570516915) that is strongly linked to CP in the Finnish and Estonian populations.
  • This SNP disrupts a binding site for the transcription factor IRF6, leading to decreased enhancer activity and impaired autoregulation, which may contribute to the increased risk of CP.
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Precision oncology is driven by molecular biomarkers. For glioblastoma multiforme (GBM), the most common malignant adult primary brain tumor, O6-methylguanine-DNA methyltransferase ( ) gene DNA promoter methylation is an important prognostic and treatment clinical biomarker. Time consuming pre-analytical steps such as biospecimen storage before fixing, sampling, and processing are major sources of errors and batch effects, that are further confounded by intra-tumor heterogeneity of promoter methylation.

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  • Tranexamic acid (TXA) is increasingly used in orthopedic surgeries, yet there hasn't been a recent systematic review on its effectiveness in foot and ankle surgeries, which this article aims to address.
  • The systematic review analyzed studies from multiple databases focusing on TXA's impact on blood loss, hemoglobin, hematocrit levels, wound complications, and vascular events in foot and ankle surgeries.
  • Findings from eight studies indicate that TXA may significantly reduce 24-hour post-operative blood loss and improve post-operative hemoglobin and hematocrit levels without increasing the risk of thromboembolic complications; age did not significantly affect study outcomes.
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Background: Sacroiliac joint fusion (SIF) has been shown to effectively alleviate pain and improve functional deficits associated with sacroiliac joint dysfunction (SIJD). Previous studies have demonstrated significant improvements in gait function, however, none have reported both over-ground walking and quiescent standing, and additionally, none have included analysis of pelvic kinematics which may contain important information regarding pain avoidant compensatory behaviors. The purpose of this study was to identify objective functional differences between symptomatic and asymptomatic sides of unilateral sacroiliac joint dysfunction (SIJD) patients and to demonstrate the effectiveness of unilateral sacroiliac fusion (SIF) to improve gait and balance function compared to matched controls.

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Background: No consensus currently exists among orthopaedic surgeons regarding the benefits of hip orthosis after routine hip arthroscopy.

Purpose: To compare patient-reported outcome measures (PROMs) and reoperation rates between patients who were braced versus those who were not braced after routine hip arthroscopy.

Study Design: Cohort study; Level of evidence, 3.

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Large-scale high-dimensional multiomics studies are essential to unravel molecular complexity in health and disease. We developed an integrated system for tissue sampling (CryoGrid), analytes preparation (PIXUL), and downstream multiomic analysis in a 96-well plate format (Matrix), MultiomicsTracks96, which we used to interrogate matched frozen and formalin-fixed paraffin-embedded (FFPE) mouse organs. Using this system, we generated 8-dimensional omics data sets encompassing 4 molecular layers of intracellular organization: epigenome (H3K27Ac, H3K4m3, RNA polymerase II, and 5mC levels), transcriptome (messenger RNA levels), epitranscriptome (m6A levels), and proteome (protein levels) in brain, heart, kidney, and liver.

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Background: Rheumatologic ultrasonography (RhUS) has grown in scope and application over the past 20 years. While many studies have shown the benefits of RhUS, few have investigated the efficacy of a dedicated clinic. This study explores the impact of a dedicated ultrasound clinic on patients and rheumatologists at an academic medical center (AMC).

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  • IL-31, a cytokine linked to itchy skin diseases, has complex effects on inflammation and neuro pathways, which are not fully understood.
  • In a mouse model, disrupting IL-31 reduced scratching associated with allergic dermatitis, suggesting it usually promotes itching, while the absence of its receptor increased certain immune responses like T cell activation and IgE production.
  • The study reveals that IL-31 acts more as an immunoregulatory factor, potentially limiting inflammation by triggering specific neuro pathways, which could explain dermatitis flare-ups in patients receiving treatments against IL-31 receptor.
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Mass-Suite (MSS) is a Python-based, open-source software package designed to analyze high-resolution mass spectrometry (HRMS)-based non-targeted analysis (NTA) data, particularly for water quality assessment and other environmental applications. MSS provides flexible, user-defined workflows for HRMS data processing and analysis, including both basic functions (e.g.

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Background: Disease molecular complexity requires high throughput workflows to map disease pathways through analysis of vast tissue repositories. Great progress has been made in tissue multiomics analytical technologies. To match the high throughput of these advanced analytical platforms, we have previously developed a multipurpose 96-well microplate sonicator, PIXUL, that can be used in multiple workflows to extract analytes from cultured cells and tissue fragments for various downstream molecular assays.

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Background: The multiome is an integrated assembly of distinct classes of molecules and molecular properties, or "omes," measured in the same biospecimen. Freezing and formalin-fixed paraffin-embedding (FFPE) are two common ways to store tissues, and these practices have generated vast biospecimen repositories. However, these biospecimens have been underutilized for multi-omic analysis due to the low throughput of current analytical technologies that impede large-scale studies.

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The impact of COVID-19 on job displacement in the United States has been unevenly experienced by race, ethnicity, and the socioeconomically disadvantaged. Although unemployment benefits may mitigate the effects of job displacement, this social safety net is also unevenly distributed across workers. We examine racial/ethnic differences in receiving unemployment benefits among workers displaced by the pandemic.

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Objective: Systemic juvenile idiopathic arthritis (JIA) associated with lung disease (JIA-LD) is a potentially life threating complication in children with systemic JIA. Although high-resolution computed tomography (HRCT) is considered the gold standard imaging modality for evaluating interstitial lung disease (ILD), lung ultrasound (US) has shown utility for ILD screening in adults with connective tissue diseases at lower cost and without using ionizing radiation. The goals of this pilot study were to describe lung US features in children with known systemic JIA-LD and to assess the feasibility of lung US in this population.

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Bifurcation of cellular fates, a critical process in development, requires histone 3 lysine 27 methylation (H3K27me3) marks propagated by the polycomb repressive complex 2 (PRC2). However, precise chromatin loci of functional H3K27me3 marks are not yet known. Here, we identify critical PRC2 functional sites at high resolution.

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Background: The majority of patients with SARS-CoV-2 infection are diagnosed and managed as outpatients; however, little is known about the burden of pulmonary disease in this setting. Lung ultrasound (LUS) is a convenient tool for detection of COVID-19 pneumonia. Identifying SARS-CoV-2 infected outpatients with pulmonary disease may be important for early risk stratification.

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Background: Changes in balance are common in individuals with spinal disorders and may cause falls. Balance efficiency, is the ability of a person to maintain their center of gravity with minimal neuromuscular energy expenditure, oftentimes referred to as Cone of Economy (CoE). CoE balance is defined by two sets of measures taken from the center of mass (CoM) and head: 1) the range-of-sway (RoS) in the coronal and sagittal planes, and 2) the overall sway distance.

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Non-operative treatment is regarded as the first-line therapy for patients with adult spinal deformity (ASD) without neurologic deficits or significant impairment. While there is high-level evidence supporting the use of rigid bracing in adolescent idiopathic scoliosis, there is a paucity of literature pertaining to the use of scoliosis support orthosis (SSO) in ASD patients. To investigate the impact of an SSO on pain, gait parameters, and functional balance measures in symptomatic ASD patients.

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Prospective, concurrent-cohort study. To establish the relationship between radiographic alignment parameters and functional CoE measurements at one week before and at three months after realignment surgery in ADS patients. Adult degenerative scoliosis (ADS) represents a significant healthcare burden with exceedingly high and increasing prevalence, particularly among the elderly.

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Purpose: During sepsis, an excessive inflammatory immune reaction contributes to multi-organ dysfunction syndrome (MODS), a critical condition associated with high morbidity and mortality; however, the molecular mechanisms driving MODS remain elusive.

Methods: We used RNA sequencing to characterize transcriptional changes in the early phase of sepsis, at 6, 12, 24 hour time points in lung, kidney, liver, and heart tissues, in a cecal ligation and puncture (CLP)-induced polymicrobial sepsis murine model.

Results: The CLP surgery induced significant changes (adj.

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