A5103776692- Williams Syndrome Research
- Neonatal Respiratory Health Research
- Cardiac Arrhythmias and Treatments
- Cardiac pacing and defibrillation studies
- Atrial Fibrillation Management and Outcomes
- Infant Nutrition and Health
- Cardiac electrophysiology and arrhythmias
- Cardiac Structural Anomalies and Repair
- Congenital Diaphragmatic Hernia Studies
- Neonatal Health and Biochemistry
- Birth, Development, and Health
- Social Media in Health Education
- Signaling Pathways in Disease
- Cardiac Valve Diseases and Treatments
- Neuroscience of respiration and sleep
- Cardiovascular Function and Risk Factors
- Impact of Technology on Adolescents
- Peripheral Artery Disease Management
- Health Literacy and Information Accessibility
- Neurological disorders and treatments
- Genomics and Rare Diseases
- Retinopathy of Prematurity Studies
- Posttraumatic Stress Disorder Research
- Cardiovascular Syncope and Autonomic Disorders
- Metabolism, Diabetes, and Cancer
Milton Keynes Hospital
2024-2025
John Radcliffe Hospital
1993-2024
University of Oxford
2017-2024
Belfast Health and Social Care Trust
2024
Oxford Health NHS Foundation Trust
2023
Texas Cardiac Arrhythmia
2023
Center for Outcomes Research in Liver Diseases
2023
Ronald Reagan UCLA Medical Center
2023
The University of Texas Health Science Center at San Antonio
2021
Wycombe General Hospital
2017
In recent years there has been an upsurge of interest in the study distinctive patterns behavioural and psychological characteristics associated with specific, biologically determined, intellectually disabling conditions. This investigates whether such a profile can be identified adults Williams syndrome.Parents other care-givers were interviewed about social, emotional 70 syndrome, aged 19 to 39 9 months.The reported have high rates difficulties, particularly terms poor social...
This paper reports the results of cognitive, linguistic, and academic assessments in a representative sample 62 adults with Williams syndrome. The average age group was 26 years their mean full scale IQ 61. Differences between Verbal Performance IQ, receptive expressive language skills, were smaller than generally found studies children this condition. However, an examination subtest scores revealed almost identical cognitive profile to that children. Skills other areas, such as reading,...
Williams syndrome (WS), a rare neurodevelopmental disorder of genetic origin, is characterised by relative advantage language over more serious deficits in other cognitive domains. In this study the relationship phonological short-term memory to WS language, particular vocabulary, was explored. Using Gathercole and Baddeley's Children's Test Nonword Repetition (CNRep) (Gathercole & Baddeley, 1996), we examined pattern performance participants on that task compared it measures receptive...
The autosomal dominant dementia familial encephalopathy with neuroserpin inclusion bodies is characterized by the accumulation of ordered polymers mutant within endoplasmic reticulum neurones. We show here that intracellular activate NF-kappaB a pathway independent IRE1, ATF6, and PERK limbs canonical unfolded protein response but dependent on calcium. This provides mechanism for cells to sense react folded structures serpins reticulum. Our results provide strong support overload being response.
SUMMARY The paper reports on changes in IQ scores and reading, spelling arithmetic skills over time 23 young adults with Williams syndrome. They were first assessed their early to mid‐teens followed up 8 9 years later, at an average age of 21 months. Cognitive assessments indicated increases Full Scale, Verbal Performance scores. These allow us conclude that the case syndrome (unlike some other conditions) there does not appear be a decline rate cognitive development time. Comparisons...
We present the results from a recent study of structure and energies low-index surfaces spinel (MgAl2O4) using atomistic simulation techniques. These illustrate complexity modelling ternary oxides, particularly since cation ordering, resulting in formation inverse spinel, plays crucial role determining relative surface stability. The simulations show some agreement with very limited experimental data available for class compounds. However, most common morphologies requires consideration...
Insulin-like growth factor binding protein-4 (IGFBP-4) is an important member of the insulin-like (IGF) system. The IGFBP-4 has three domains which N-terminal sequence for IGF. It acts as a transport protein IGF-I and IGF-II modulates their biological effects. There increasing evidence that inhibits IGF-induced cellular both in vitro vivo. can also mediate its actions through mechanism independent IGFs. level expression various tissues are influenced by IGFBP protease, nutrition, several...
This study describes the adjustment of 70 adults with Williams syndrome, in terms self-help skills, independence, and occupational levels. Although overall mean IQ group (62.00) was within mild mental handicap range, relatively few individuals were able to attain a high level independence or cope demands employment. Adaptive behavior scores significantly below chronological age. Outcome measures compared available data on other groups similar age intellectual impairment. Implications for...
Identification of drug induced electrical instability the heart curtails development, and introduction, potentially proarrhythmic drugs. This problem usually requires complimentary contact based approaches such as patch-clamp electrophysiology combined with field stimulation electrodes to observe control cell. produces data high signal noise but direct physical generally preventing high-throughput, or prolonged, phenotyping single cells tissues. Combining genetically encoded optogenetic...
Abstract Aims The aim is to describe the rationale, design, delivery, and baseline characteristics of Stroke prevention rhythm control Treatment: Evaluation an Educational programme European society cardiology in a cluster-Randomized trial patients with Atrial Fibrillation (STEEER-AF) trial. Methods results STEEER-AF pragmatic designed objectively robustly determine whether guidelines are adhered routine practice evaluate targeted educational for healthcare professionals. Seventy centres...
The rate of left ventricular (LV) lead displacement after cardiac resynchronization therapy (CRT) remains high despite improvements in technology. In 2017, a novel quadripolar with active fixation technology became available the UK.
This study explores the perceived influence of social media on psychological wellbeing in young people living with type 1 diabetes. Young aged 13–20 years (N = 19) diabetes and caregivers (diabetes healthcare providers parents) 8) took part an online focus group or interview. Thematic analysis was used to analyse data. Participants reflected media’s capacity facilitate accessible peer learning emotional support. Themes for centred demand perceiving products/diets, stigma, ‘filtered’...
Introduction: The efficacy of de novo cardiac resynchronisation therapy (CRT) in patients with heart failure (HF), left ventricular systolic dysfunction (LVSD), and a broad QRS morphology is well established. However, the optimal stage for upgrading existing pacemakers (PPMs) or implantable cardioverter-defibrillators (ICDs) HF high-burden right (RV) pacing remains uncertain. Thus, this multicentre retrospective analysis compared pre-existing PPMs ICDs who underwent CRT upgrades to...
Inframalleolar disease is present in most diabetic patients presenting with tissue loss. (pedal) artery and pedal medial arterial calcification (pMAC) are associated major amputation chronic limb-threatening ischemia (CLTI). The aim of this study was to examine the impact pMAC on outcomes after isolated inframalleolar (pedal artery) interventions. A database undergoing lower extremity endovascular interventions for loss between 2007 2022 retrospectively queried. Patients CLTI were selected...
In this article we review the evidence for a ‘syndrome specific’ pattern of problems and behaviours related to Williams syndrome. Although there have been many studies children with condition, data on adults are limited. The summarises available information patterns functioning in examines extent which these characteristics persist into adulthood. some changes do occur over time, from recent seem increasingly support existence distinctive behavioural pattern, that is typical both children.