Publications by authors named "Partridge R"

Article Synopsis
  • Down Syndrome Regression Disorder (DSRD) is a rare neurological condition affecting individuals with Down syndrome (DS), presenting with acute neuropsychiatric symptoms and showing potential connections to immune dysregulation.
  • In a study of 41 individuals with DSRD, 20% had de novo variants in immune regulatory genes, with some linked to an interferon response, highlighting a possible genetic factor in disease development.
  • The presence of these pathogenic variants was associated with faster clinical decline, preceding triggers, and MRI abnormalities, suggesting a need for further research on the relationship between immune regulation and DSRD.
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Background: There is significant unmet need for effective and efficiently delivered care for people with Parkinson's disease (PwP). We undertook a service improvement initiative to co-develop and implement a new care pathway, Home Based Care (HBC), based on supported self-management, remote monitoring and the ability to trigger a healthcare contact when needed.

Objective: To evaluate feasibility, acceptability and safety of Home Based Care.

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Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders.

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We measured the nuclear-recoil ionization yield in silicon with a cryogenic phonon-sensitive gram-scale detector. Neutrons from a monoenergetic beam scatter off of the silicon nuclei at angles corresponding to energy depositions from 4 keV down to 100 eV, the lowest energy probed so far. The results show no sign of an ionization production threshold above 100 eV.

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Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed.

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Alternative pre-mRNA splicing decisions are regulated by RNA binding proteins (RBPs) that can activate or repress regulated splice sites. Repressive RBPs typically harness multivalent interactions to bind stably to target RNAs. Multivalency can be achieved by homomeric oligomerization and heteromeric interactions with other RBPs, often mediated by intrinsically disordered regions (IDRs), and by possessing multiple RNA binding domains.

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Introduction: Complex intervention development has been described as the 'Cinderella' black box in health services research. Greater transparency in the intervention development process is urgently needed to help reduce research waste.

Methods: We applied a new consensus-based framework for complex intervention development to our programme of research, in which we developed an intervention to improve the safety and experience of care transitions for older people.

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Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed.

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Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.

Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets.

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Background: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention.

Methods: A retrospective, multi-center, case-control study was performed.

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Article Synopsis
  • People with Down syndrome have special changes in their immune system as they age, which can make them more likely to get autoimmune diseases.
  • The study looked closely at individuals with Down syndrome and found that their immune cells, like T cells, behave differently compared to healthy people and those with type 1 diabetes.
  • Researchers created software to help analyze this data and discovered that some immune changes in Down syndrome might be linked to a chemical called interleukin-6, suggesting that understanding these changes could help with other autoimmune diseases too.
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Surgical training emphasizes technical competence. Growing evidence indicates that nontechnical skills are also significant in determining performance. Critically, surgeons should be aware how performance is affected by pressure or distraction.

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The Cryogenic Dark Matter Search low ionization threshold experiment (CDMSlite) achieved efficient detection of very small recoil energies in its germanium target, resulting in sensitivity to lightly ionizing particles (LIPs) in a previously unexplored region of charge, mass, and velocity parameter space. We report first direct-detection limits calculated using the optimum interval method on the vertical intensity of cosmogenically produced LIPs with an electric charge smaller than e/(3×10^{5}), as well as the strongest limits for charge ≤e/160, with a minimum vertical intensity of 1.36×10^{-7}  cm^{-2} s^{-1} sr^{-1} at charge e/160.

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We describe an analysis comparing the pp[over ¯] elastic cross section as measured by the D0 Collaboration at a center-of-mass energy of 1.96 TeV to that in pp collisions as measured by the TOTEM Collaboration at 2.76, 7, 8, and 13 TeV using a model-independent approach.

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We present limits on spin-independent dark matter-nucleon interactions using a 10.6 g Si athermal phonon detector with a baseline energy resolution of σ_{E}=3.86±0.

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Objective: Laparoscopic simulation is widely used in surgical training. However, the impact of training on performance is difficult to assess. Observation is time-intensive and subjective.

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The diagnostic uncertainty for children with abdominal pain has increased during the COVID-19 pandemic with the additional consideration of both COVID-19 and paediatric inflammatory multisystem syndrome-temporally associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (PIMS-TS) alongside appendicitis, mesenteric adenitis and other less common causes of abdominal pain. We describe the cases of two children who presented with severe abdominal pain, non-bilious vomiting and high temperatures during the UK's first peak of the COVID-19 pandemic. Laboratory and abdominal ultrasound features were similar for both children but symptom progression in combination with cross-sectional abdominal imaging enabled differentiation between PIMS-TS and appendicitis with concurrent COVID-19.

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Spasmodic dysphonia is a primary task specific focal dystonia affecting the laryngeal muscles during speech. Most medical and surgical approaches to treatment of spasmodic dysphonia are aimed at the denervation of the laryngeal muscles to block symptom expression in the voice. The standard of care for the adductor form of spasmodic dysphonia is botulinum toxin chemodenervation.

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Introduction: Manual ventilations during cardiac arrest are frequently performed outside of recommended guidelines. Real-time feedback has been shown to improve chest compression quality, but the use of feedback to guide ventilation volume and rate has not been studied. The purpose of this study was to determine whether the use of a real-time visual feedback system for ventilation volume and rate improves manual ventilation quality during simulated cardiac arrest.

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Introduction: People with long-term conditions typically have reduced physical functioning, are less physically active and therefore become less able to live independently and do the things they enjoy. However, assessment and promotion of physical function and physical activity is not part of routine management in primary care. This project aims to develop evidence-based recommendations about how primary care can best help people to become more physically active in order to maintain and improve their physical function, thus promoting independence.

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Upon publication of this article [1], it was brought to our attention that one of the 303 participants in the normative study should have been deleted from the database.

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Introduction: Ninety percent of all injury-related deaths occur in low- and middle-income countries. The WHO recommends short, resource-specific trauma courses for healthcare providers. Studies show that teaching trauma courses to medical students in developed countries leads to significant increases in knowledge and skill.

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We present the first limits on inelastic electron-scattering dark matter and dark photon absorption using a prototype SuperCDMS detector having a charge resolution of 0.1 electron-hole pairs (CDMS HVeV, a 0.93 g CDMS high-voltage device).

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