Publications by authors named "Duffy D"

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by an overactive immune response, particularly involving excessive production of type I interferons. This overproduction is driven by the phosphorylation of IRF7, a crucial factor in interferon gene activation. Current treatments for SLE are often not very effective and can have serious side effects.

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Objectives: Endogenous retroelements (EREs) stimulate type 1 interferon (IFN-I) production but have not been explored as potential interferonogenic triggers in Rheumatoid Arthritis (RA). We investigated ERE expression in early RA (eRA), a period where IFN-I is increased.

Methods: ERE expression (LTR5, LINE1, SINE) in disease modifying treatment naïve eRA whole blood and bulk synovial tissue was examined by RT-PCR and Nanostring alongside IFN-α activity.

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  • Carbapenem-resistant Enterobacterales (CRE) and carbapenem-resistant Pseudomonas aeruginosa (CRPA) are serious public health threats, particularly those that produce carbapenemases, which makes them resistant to many antibiotics.
  • Analysis of data from the Antimicrobial Resistance Laboratory Network (AR Lab Network) from 2018 to 2022 revealed that among the tested isolates, 35% were single-carbapenemase producing (SCP) and only 1% were multiple-carbapenemase producing (MCP).
  • The proportion of MCP-CRE detections has shown a gradual increase, indicating the need for ongoing monitoring and research efforts to tackle these dangerous bacteria.
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Autoantibodies against cytokines (c-aAb) have been implicated in the pathophysiology of autoimmune diseases, and a variety of infections. In addition, several independent studies have detected elevated titers of c-aAb in the circulation of healthy individuals. To further understand their impact on immune responses, we measured c-aAb against IFN-α, IFN-γ, CSF2, IL-1α, IL-6, and IL-10 in the plasma of 1000 healthy individuals of the Milieu Intérieur (MI) cohort.

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  • HIV infection leads to gastrointestinal mucosal damage, which affects microbial balance and immune response, leading to non-infectious comorbidities in people living with HIV (PLWH).
  • A study measured zonulin levels in serum and intestinal tissue from HIV-infected individuals and controls, revealing higher levels of zonulin in the bloodstream of HIV patients, but lower levels in their gut tissue compared to controls.
  • Elevated systemic zonulin was linked to the loss of intestinal CD4 T cells and increased gut inflammation, suggesting a relationship between zonulin and intestinal health that could be important for managing comorbidities in PLWH.
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Aim: To determine whether the use of less-invasive surfactant administration (LISA) had changed between 2018 and 2024.

Methods: An online questionnaire was sent to all 191 neonatal units between June 2023 and May 2024. One consultant from each neonatal unit was randomly selected.

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Towards the 10th anniversary of the Nagoya Protocol, it is time to embrace key technology developments and adapt existing red tape for genomic monitoring. [Image: see text]

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Introduction: Marine environments offer a wealth of opportunities to improve understanding and treatment options for cancers, through insights into a range of fields from drug discovery to mechanistic insights. By applying One Health principles the knowledge obtained can benefit both human and animal populations, including marine species suffering from cancer. One such species is green sea turtles (), which are under threat from fibropapillomatosis (FP), an epizootic tumor disease (animal epidemic) that continues to spread and increase in prevalence globally.

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Infectious, inflammatory and autoimmune conditions present differently in males and females. SARS-CoV-2 infection in naive males is associated with increased risk of death, whereas females are at increased risk of long COVID, similar to observations in other infections. Females respond more strongly to vaccines, and adverse reactions are more frequent, like most autoimmune diseases.

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Background: Following an acute myocardial infarction (AMI), patients remain at risk for subsequent cardiovascular (CV) events. In the AEGIS-II trial, CSL112, a human apolipoprotein A-I derived from plasma that enhances cholesterol efflux, did not significantly reduce the first occurrence of CV death, myocardial infarction (MI), or stroke through 90 days compared with placebo. However, an analysis involving only the first event may not capture the totality of the clinical impact of an intervention because patients may experience multiple events.

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Background And Aims: In the AEGIS-II trial (NCT03473223), CSL112, a human apolipoprotein A1 derived from plasma that increases cholesterol efflux capacity, did not significantly reduce the risk of the primary endpoint through 90 days vs. placebo after acute myocardial infarction (MI). Nevertheless, given the well-established relationship between higher low-density lipoprotein cholesterol (LDL-C) and plaque burden, as well as greater risk reductions seen with PCSK9 inhibitors in patients with baseline LDL-C ≥ 100 mg/dL on statin therapy, the efficacy of CSL112 may be influenced by baseline LDL-C.

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  • Hereditary C1q deficiency (C1QDef) is a rare genetic disorder that disrupts the complement system and can cause symptoms similar to systemic lupus erythematosus (SLE).
  • A study of 12 genetically confirmed C1QDef patients showed elevated expression of interferon-stimulated genes and high levels of interferon alpha in their blood and cerebrospinal fluid, indicating significant immune dysfunction.
  • Treatment with Janus-kinase inhibitors had mixed results, with one patient improving while others continued to struggle with their condition, highlighting the complexity of managing C1QDef.
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  • A significant portion (2-20%) of cutaneous melanoma cases are diagnosed as amelanotic/hypopigmented melanoma (AHM), which complicates early detection due to their lack of pigmentation.
  • The study investigates mutations in key pigmentation genes linked to albinism and hypopigmentation, revealing that AHM patients have a higher frequency of rare germline variants compared to pigmented melanoma patients.
  • Findings include that specific gene variants associated with red hair pigmentation are common in AHM cases, and some AHM tumors show chromosomal abnormalities related to these pigmentation genes, indicating a genetic basis for the lack of pigmentation in these melanomas.
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Importance: It is unknown whether germline genetic factors influence in situ melanoma risk differently than invasive melanoma risk.

Objective: To determine whether differences in risk of in situ melanoma and invasive melanoma are heritable.

Design, Setting, And Participants: Three genome-wide association study meta-analyses were conducted of in situ melanoma vs controls, invasive melanoma vs controls, and in situ vs invasive melanoma (case-case) using 4 population-based genetic cohorts: the UK Biobank, the FinnGen cohort, the QSkin Sun and Health Study, and the Queensland Study of Melanoma: Environmental and Genetic Associations (Q-MEGA).

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In this perspective article, we discuss the application of ion implantation to manipulate strain (by either neutralizing or inducing compressive or tensile states) in suspended thin films. Emphasizing the pressing need for a high-mobility silicon-compatible transistor or a direct bandgap group-IV semiconductor that is compatible with complementary metal-oxide-semiconductor technology, we underscore the distinctive features of different methods of ion beam-induced alteration of material morphology. The article examines the precautions needed during experimental procedures and data analysis and explores routes for potential scalable adoption by the semiconductor industry.

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Objective: To study the role of PGE in regulating plasminogen activator inhibitor-1 (PAI-1) and tissue plasminogen activator (tPA) in human primary endometrial endothelial cells (HEECs) from women with normal menstrual bleeding (NMB) and heavy menstrual bleeding (HMB).

Design: In vitro study using endometrial endothelial cells.

Setting: Research laboratory setting.

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  • - The study evaluated the safety and effectiveness of semaglutide, a diabetes and weight loss medication, in patients with advanced chronic kidney disease (CKD) stages 4 and 5, as well as those on dialysis, due to limited existing research in this area.
  • - Data from 76 patients (mostly males with a mean age of 66.8) was analyzed over approximately five years, showing significant weight loss (avg. drop of 4.9 kg) and decreased hemoglobin A1c levels (avg. drop from 8.0% to 7.1%).
  • - While 63.1% reported no adverse effects, the most common issues leading to discontinuation were nausea, vomiting,
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Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis.

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Follicular androgens are important for successful ovulation and fertilization. The classical nuclear androgen receptor (AR) is a transcription factor expressed in the cells of the ovarian follicle. Androgen actions can also occur via membrane androgen receptor SLC39A9.

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  • Guided digital mental health interventions that include therapist support are generally more effective than those without guidance.
  • A scoping review was conducted examining 16 studies to explore therapist behaviors, focusing particularly on their actions and feedback towards clients.
  • The review indicates a shift in research from merely identifying therapist behaviors to understanding their impact on treatment outcomes, highlighting areas for improvement in clinical practice and future research.
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Aicardi-Goutières syndrome (AGS) is an autoinflammatory disease characterized by aberrant interferon (IFN)-α production. The major cause of morbidity in AGS is brain disease, yet the primary source and target of neurotoxic IFN-α remain unclear. Here, we demonstrated that the brain was the primary source of neurotoxic IFN-α in AGS and confirmed the neurotoxicity of intracerebral IFN-α using astrocyte-driven Ifna1 misexpression in mice.

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