Publications by authors named "Robson C"

Background: Making Every Contact Count (MECC) is a public health strategy which strives to enable brief interventions to be implemented through opportunistic healthy lifestyle conversations. In a mental health inpatient setting a bespoke MECC training package has been developed to encourage cascade training through a train the trainer model and to incorporate an additional regional health strategy A Weight Off Your Mind into Core MECC training to provide a focus on healthy weight management. This study evaluated the fidelity of design of MECC in the mental health inpatient setting and fidelity of the training package currently being cascaded across the region.

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The spectrum of congenital and infantile masses of the head and neck is broad, including developmental and neoplastic entities. The diseases encountered in this vulnerable patient population differ substantially from those in older children and adults. Familiarity with the types of encountered masses, typical imaging characteristics, and expected clinical course is critical for radiologists who care for pregnant women (fetuses) and infants.

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Background: Otitic hydrocephalus is increased intracranial pressure without ventricular dilation secondary to mastoiditis and cerebral venous sinus thrombosis (CVST). It is associated with significant visual morbidity, though more detailed data on visual outcomes is lacking. We sought to better characterize the management of increased intracranial pressure and visual outcomes in this population.

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Objectives: To examine trajectories of functional limitations, fatigue, health-related quality of life (HRQL) and societal costs of patients referred to long COVID clinics.

Design: A population-based longitudinal cohort study using real-time user data.

Setting: 35 specialised long COVID clinics in the UK.

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Background: Multidisciplinary endocarditis team (MDET) management is supported by current evidence and recommended in international society guidelines. The extent to which this recommendation has been implemented in Australian centres and the attitudes, barriers and facilitators of this model are unclear.

Aim: To describe current infective endocarditis (IE) models of care in Australian specialist referral centres and evaluate facilitators, barriers and attitudes towards MDET implementation.

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Article Synopsis
  • The purpose of the study was to evaluate new human genes and variants related to ocular congenital cranial dysinnervation disorders (oCCDDs) using genetic sequencing methods.
  • Researchers prioritized 43 human genes and 57 zebrafish genes through CRISPR/Cas9 knockout assays in zebrafish, ultimately generating mutants for 17 of those genes.
  • The study identified three novel genes linked to cranial motor development and demonstrated that certain human gene variants may impair protein function, suggesting they could contribute to oCCDDs.
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  • The study explored long COVID (LC) symptoms reported through a digital app, analyzing data from 1,008 individuals with LC in England and Wales over a 16-month period.
  • Researchers identified 109 symptom categories, with pain, neuropsychological issues, fatigue, and dyspnoea being the most common, while symptom intensity increased by 3.3% monthly.
  • Demographic factors like age, gender, ethnicity, and education level significantly affected symptom severity, highlighting the need for targeted treatments and support for LC patients in healthcare policy.
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In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the regulation of diverse molecular processes. However, because lncRNAs do not encode protein, there is uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus annotating such elements is challenging.

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  • The Making Every Contact Count (MECC) program aims to train public workers to promote health-oriented behaviors during their daily interactions with the public, specifically in the North East and North Cumbria region of England.
  • A mixed-methods evaluation was conducted, utilizing various research strategies including reviewing program documents, conducting surveys, interviews, and group discussions to assess the implementation status and factors influencing it.
  • Findings showed that MECC is in its early stages of implementation, with training mostly occurring between organizations; key influences for successful implementation include organizational alignment with MECC goals, supportive resources, and strong leadership commitment.
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  • This study aimed to identify the genetic causes and associations between genotype and phenotype in patients with unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
  • Researchers analyzed data from 467 individuals with oCCDDs using exome or genome sequencing, revealing pathogenic variants in 43 probands and variants of uncertain significance in 70 others.
  • The findings highlight the genetic diversity of oCCDDs and suggest that they may overlap with other genetic conditions, paving the way for further research on potential genetic links.
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Background And Purpose: Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA.

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In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the regulation of diverse molecular processes. However, because lncRNAs do not encode protein, there is uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus annotating such elements is challenging.

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Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic anomalies of the fetal calvarium, globes and orbits, ears, maxilla, mandible, and neck.

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Objective: Atraumatic cerebrospinal fluid (CSF) rhinorrhea is uncommon in children and necessitates a multi-disciplinary evaluation for an etiology. Underlying osseous abnormality due to extensive or multifocal low flow vascular anomaly should be considered as a potential cause of spontaneous CSF leak. Treatment of multifocal low flow vascular anomalies may include medical and surgical approaches.

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Purpose: Incomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome.

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Objective: Depression is highly prevalent and associated with increased hospitalisations and mortality among patients with heart failure (HF). This study will evaluate the effectiveness and cost-effectiveness of an online wellbeing program for patients discharged from hospital with acute decompensated heart failure (ADHF) in (i) improving emotional and physical wellbeing, and (ii) decreasing healthcare utilisation.

Methods: Two-arm randomised controlled trial.

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Despite an array of hypothesised implications for health, disease, and therapeutic development, antibodies against the non-human sialic acid -glycolylneuraminic acid (Neu5Gc) remain a subject of much debate. This systematic review of 114 publications aimed to generate a comprehensive overview of published studies in this field, addressing both the reported prevalence of anti-Neu5Gc antibodies in the human population and whether experimental variation accounts for the conflicting reports about the extent of this response. Absolute titres of anti-Neu5Gc antibodies, the reported prevalence of these antibodies, and the individual variation observed within experiments were analysed and grouped according to biological context ('inflammation', 'xenotransplantation', 'biotherapeutic use', 'cancer', and 'healthy populations'), detection method, target epitope selection, and choice of blocking agent.

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Objective: Demonstrate the utility of 3D printed temporal bone models in individual patient preoperative planning and simulation.

Methods: 3D models of the temporal bone were made from 5 pediatric and adult patients at a tertiary academic hospital with challenging surgical anatomy planned for cochlear implantation or exteriorization of cholesteatoma with complex labyrinthine fistula. The 3D models were created from CT scan used for preoperative planning, simulation and intraoperative reference.

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Purpose: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Methods: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations.

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Objectives: The Making Every Contact Count (MECC) initiative is broadly defined as an opportunistic approach to prevention by making use of the thousands of conversations service providers have with service users every day. However, since its conception, the application of MECC has diverged and developed considerably. Thus, the current study aimed to revise the definition according to current research and practice to better describe what is and is not included.

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Article Synopsis
  • FEM1B is a key protein related to ubiquitin ligase complexes that influences various biological functions, including mitochondrial activity as a redox sensor, but its role in human disease is not well understood.
  • Researchers identified individuals with a specific genetic variant in FEM1B and conducted clinical evaluations, along with experiments using model systems to analyze the variant's effects.
  • The findings reveal that a recurrent mutation in FEM1B (p.(Arg126Gln)) leads to severe neurodevelopmental disorders and related physical abnormalities, suggesting that this variant causes dysfunctional activation of FEM1B that results in developmental issues.
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Immune checkpoint blockade has yet to produce robust anti-cancer responses for prostate cancer. Sialyltransferases have been shown across several solid tumours, including breast, melanoma, colorectal and prostate to promote immune suppression by synthesising sialoglycans, which act as ligands for Siglec receptors. We report that ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3Gal1) levels negatively correlate with androgen signalling in prostate tumours.

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Article Synopsis
  • * AR-Vs activate androgenic signaling independently and resist existing therapies, highlighting the need for new treatment strategies targeting their function.
  • * The study identifies DNA-PKcs as a crucial element in regulating AR-V activity and suggests that targeting this protein may effectively reduce AR-V signaling in advanced PC, offering a promising therapeutic avenue for resistant cases.
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