Publications by authors named "QUIGLEY A"

Purpose: Traumatic brain injury and spinal cord injury impact all areas of individuals' quality of life. A synthesis of available evidence for the Traumatic Brain Injury Quality of Life (TBI-QoL) and Spinal Cord Injury Quality of Life (SCI-QoL) measurement systems could inform evidence-based clinical practice and research. Thus, we aimed to systematically review the literature of existing evidence on the measurement properties of SCI-QoL and TBI-QoL among rehabilitation populations.

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The enterobacterial common antigen (ECA) is conserved in Gram-negative bacteria of the order although its function is debated. ECA biogenesis depends on the Wzx/Wzy-dependent strategy whereby the newly synthesized lipid-linked repeat units, lipid III, are transferred across the inner membrane by the lipid III flippase WzxE. WzxE is part of the Wzx family and required in many glycan assembly systems, but an understanding of its molecular mechanism is hindered due to a lack of structural evidence.

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Preterm birth correlates with brain dysmaturation and neurocognitive impairment. The gut microbiome associates with behavioral outcomes in typical development, but its relationship with neurodevelopment in preterm infants is unknown. We characterize fecal microbiome in a cohort of 147 neonates enriched for very preterm birth using 16S-based and shotgun metagenomic sequencing.

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Aims: Community-level childhood experiences make up important aspects of early life that are associated with long-term health outcomes. However, to date, there have been no validated measures that assess community-level experiences during childhood. Thus, we aimed to develop and validate a measure that would assess community-level experiences associated with both risk and resilience.

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People living with HIV (PLWH) may experience premature physical deficits, including walking, mobility, and balance problems. The purpose was to measure deficits in walking, mobility, balance, and dual tasking in PLWH. The secondary objective was to make recommendations regarding the use of rehabilitation outcome measures.

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Article Synopsis
  • Ceramides are important sphingolipids that play a crucial role in managing cellular metabolism, and six specific enzymes (CerS) are responsible for their synthesis.
  • C16 ceramide, linked to obesity and insulin resistance, has CerS6 as a potential drug target due to its specific action in these conditions.
  • New research using cryo-electron microscopy reveals how CerS6 works, showing that it uses a unique reaction mechanism and interacts with substances like the mycotoxin fumonisin B1, paving the way for future drug development.
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  • Pediatric genetic epilepsies, including CDKL5 Deficiency Disorder (CDD), are severe and challenging, with many young patients experiencing frequent seizures that impede development and quality of life.
  • Current antiseizure medications often fail, prompting exploration into the therapeutic effects of cannabinoids like cannabidiol (CBD) and Δ9-tetrahydrocannabinol (THC), particularly for drug-resistant conditions.
  • Despite promising results for other genetic epilepsies, research specifically targeting CDD is scarce and primarily anecdotal; using advanced models like patient-derived neurons and brain organoids could provide better insights into cannabinoid efficacy and mechanisms for potential treatment options.
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Objective: To systematically review the literature of existing evidence on the measurement properties of the Quality of Life in Neurological Disorders (Neuro-QoL) measurement system among neurorehabilitation populations.

Data Sources: The Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) guided this systematic review in which we searched nine electronic databases and registries, and hand-searched reference lists of included articles.

Study Selection: Two independent reviewers screened selected articles and extracted data from 28 included studies.

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Article Synopsis
  • - The study focuses on understanding the connection between preterm birth (PTB) and encephalopathy of prematurity (EoP), particularly how neuroendocrine stress and immune responses might influence brain development issues in preterm infants.
  • - Researchers at the University of Edinburgh will recruit 300 mother-infant pairs, including both preterm and term births, over a five-year period to gather a variety of biological and demographic data, including MRI scans to assess brain development.
  • - Ethical approval for the study has been granted, ensuring that the research will be conducted responsibly and that findings will be shared for broader educational and clinical use.
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  • Formal infectious disease surveillance in Ukraine has been severely affected by Russia's invasion in 2022, hindering the ability to track epidemics effectively.
  • An analysis using data from EPIWATCH showed significant increases in infections such as cholera, botulism, tuberculosis, and more during the conflict compared to before the invasion.
  • Open-source data emerged as a valuable tool for tracking infectious diseases in the absence of formal surveillance, although there were still limitations in data availability and accuracy during the war.
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CDKL5 Deficiency Disorder (CDD) is a debilitating epileptic encephalopathy disorder affecting young children with no effective treatments. CDD is caused by pathogenic variants in Cyclin-Dependent Kinase-Like 5 (CDKL5), a protein kinase that regulates key phosphorylation events in neurons. For therapeutic intervention, it is essential to understand molecular pathways and phosphorylation targets of CDKL5.

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Background: Cognitive impairment can be caused by infections with various pathogens, including SARS-CoV-2. Research has yet to determine the true incidence and course of cognitive impairment in older adults following COVID-19. Furthermore, research has theorised that COVID-19 is associated with dementia progression and diagnosis but this association has yet to be fully described.

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Background And Objectives: The survival rate and patterns of brain injury after very preterm birth are evolving with changes in clinical practices. Additionally, incidental findings can present legal, ethical and practical considerations. Here, we report MRI features and incidental findings from a large, contemporary research cohort of very preterm infants and term controls.

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The myotendinous junction (MTJ) is the interface connecting skeletal muscle and tendon tissues. This specialized region represents the bridge that facilitates the transmission of contractile forces from muscle to tendon, and ultimately the skeletal system for the creation of movement. MTJs are, therefore, subject to high stress concentrations, rendering them susceptible to severe, life-altering injuries.

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  • * A new delivery system was developed using graphene oxide (GO) and GelMA hydrogels, which significantly improves the control over NGF release, cutting burst release by up to 30 times and retaining NGF up to 10 times more effectively than GelMA alone.
  • * The enhanced release control fosters neurodifferentiation, indicating that this system has potential for advancing nerve tissue engineering and improving neuron regeneration outcomes.
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This study investigates the electrochemical behavior of GelMA-based hydrogels and their interactions with PC12 neural cells under electrical stimulation in the presence of conducting substrates. Focusing on indium tin oxide (ITO), platinum, and gold mylar substrates supporting conductive scaffolds composed of hydrogel, graphene oxide, and gold nanorods, we explored how the substrate materials affect scaffold conductivity and cell viability. We examined the impact of an optimized electrical stimulation protocol on the PC12 cell viability.

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Phenylketonuria (PKU), hereditary tyrosinemia type 1 (HT1), and mucopolysaccharidosis type 1 (MPSI) are autosomal recessive disorders linked to the phenylalanine hydroxylase () gene, fumarylacetoacetate hydrolase () gene, and alpha-L-iduronidase () gene, respectively. Potential therapeutic strategies to ameliorate disease include corrective editing of pathogenic variants in the and genes and, as a variant-agnostic approach, inactivation of the 4-hydroxyphenylpyruvate dioxygenase () gene, a modifier of HT1, via adenine base editing. Here we evaluated the off-target editing profiles of therapeutic lead guide RNAs (gRNAs) that, when combined with adenine base editors correct the recurrent P281L variant, R408W variant, or W402X variant or disrupt the gene in human hepatocytes.

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Infant attachment is an antecedent of later socioemotional abilities, which can be adversely affected by preterm birth. The structural integrity of amygdalae and hippocampi may subserve attachment in infancy. We aimed to investigate associations between neonatal amygdalae and hippocampi structure and their whole-brain connections and attachment behaviours at nine months of age in a sample of infants enriched for preterm birth.

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Article Synopsis
  • Tubulin is a key component of the cytoskeleton and has various isotypes in animals, but it's unclear how these isotypes influence microtubule structures in different cell types.
  • Research on 12 patients with primary ciliary dyskinesia and mouse models uncovered variants in the tubulin isotype that disrupted the formation of centrioles and cilia, impacting microtubule dynamics.
  • The study identified different variants causing distinct effects on tubulin interactions, allowing for the classification of patients into three types of ciliopathic diseases, highlighting the unique roles of specific tubulin isotypes in cellular functions.
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Selective intra-arterial radiotherapy (SIRT) is a technique which has evolved over the past 30 years. In present this is primarily used to treat primary and secondary tumors in the liver. The technique normally depends on the delivery of a therapeutic radiopharmaceutical or radiolabeled particulate via a radiologically placed intra-arterial catheter in the hepatic artery.

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Cognitive health is a significant concern for people aging with HIV/AIDS. Psychosocial group therapies may help people aging with HIV who experience cognitive challenges cope with their symptoms. The COVID-19 pandemic revealed in-person group therapies need adaptation for technology-mediated delivery.

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The early life environment programmes cortical architecture and cognition across the life course. A measure of cortical organisation that integrates information from multimodal MRI and is unbound by arbitrary parcellations has proven elusive, which hampers efforts to uncover the perinatal origins of cortical health. Here, we use the Vogt-Bailey index to provide a fine-grained description of regional homogeneities and sharp variations in cortical microstructure based on feature gradients, and we investigate the impact of being born preterm on cortical development at term-equivalent age.

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Lu177-dotatate (Lutathera™) is a radioactive drug approved for the treatment of adults with gastro-entero-pancreatic neuroendocrine tumors and is predominantly renally excreted. Currently all patients receive 7400 MBq (200 mCi), and there are no guidelines for treating hemodialysis patients. We measured radioactivity prior to and post administration of two cycles of Lu177-dotatate in a hemodialysis patient, and radiation exposure to staff.

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