A5005680420- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Health Systems, Economic Evaluations, Quality of Life
- Pharmaceutical industry and healthcare
- Nonlinear Waves and Solitons
- Mitochondrial Function and Pathology
- Nonlinear Photonic Systems
- Cardiomyopathy and Myosin Studies
- DNA Repair Mechanisms
- Neurological disorders and treatments
- Numerical methods for differential equations
- Neurology and Historical Studies
- Patient-Provider Communication in Healthcare
- RNA Research and Splicing
- Advanced Mathematical Physics Problems
- RNA modifications and cancer
- Pharmaceutical Economics and Policy
- RNA regulation and disease
- Hereditary Neurological Disorders
- Patient Satisfaction in Healthcare
- Fungal and yeast genetics research
- Matrix Theory and Algorithms
- Cardiovascular Effects of Exercise
- Cerebral Venous Sinus Thrombosis
Newcastle University
2017-2023
The Ohio State University Wexner Medical Center
2023
Nationwide Children's Hospital
2023
National Hospital for Neurology and Neurosurgery
2018-2022
University College London
2018-2022
University College London Hospitals NHS Foundation Trust
2019-2022
Royal London Hospital
2018-2021
Muscular Dystrophy UK
2017-2019
Centre for Life
2018
BackgroundGSK3β is an intracellular regulatory kinase that dysregulated in multiple tissues type 1 myotonic dystrophy, a rare neuromuscular disorder manifests at any age. AMO-02 (tideglusib) inhibits GSK3β activity preclinical models of dystrophy and promotes cellular maturation as well normalizes aberrant molecular behavioral phenotypes. This phase 2 study assessed the pharmacokinetics, safety tolerability, preliminary efficacy adolescents adults with congenital childhood-onset...
Objectives: To investigate stakeholder perspectives on how patient preference studies (PPS) should be designed and conducted to allow for inclusion of preferences in decision-making along the medical product life cycle (MPLC), can used such decision-making. Methods: Two literature reviews semi-structured interviews (n = 143) with healthcare stakeholders Europe US were conducted; results these informed design focus group guides. Eight groups European patients, industry representatives...
Patient preferences (PP), which are investigated in PP studies using qualitative or quantitative methods, a growing area of interest to the following stakeholders involved medical product lifecycle: academics, health technology assessment bodies, payers, industry, patients, physicians, and regulators. However, use decisions along lifecycle remains limited. As adoption heavily relies on these stakeholders, knowledge their perceptions is critical.This study aimed characterize stakeholders'...
The objective of this cross-sectional, observational study was to investigate the disease burden myotonic dystrophy type 1 (DM1), a disabling muscle disorder.
Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have increased risk of certain cancers, but whether skin cancer risks are elevated unclear. Using U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice registration (±1 year). We calculated hazard...
CONTENTS Introduction § 1. Changes of variables for evolution equations 2. Analytic operators 3. Existence solutions 4. Evolution in spaces with a basis 5. Ancillary lemmas 6. Poincare normalizing transformations 7. Proof Theorem 4.1 8. Non-linear heat and Schrodinger 9. Generalizations 4.1. Diffusion equation 10. The Hopf-Cole substitution the Miura transformation 11. Concluding remarks References
Myotonic dystrophy type 1 (DM1) is the most frequent muscular worldwide with complex, multi-systemic, and progressively worsening symptoms. There currently no treatment for this inherited disorder research can be challenging due to rarity variability of disease. The UK Dystrophy Patient Registry a patient self-enrolling online database collecting clinical genetic information. For cross-sectional "snapshot" analysis, 556 patients confirmed diagnosis DM1 registered between May 2012 July 2016...
In light of recent evidence indicating that cancer is part the myotonic dystrophy (DM) phenotype, we assessed prevalence benign and malignant tumors among 220 patients enrolled in UK Myotonic Dystrophy Patient Registry evaluated factors associated with their development.A survey was distributed to collect tumor history lifestyle information. We used multinomial logistic regression for analysis.Thirty-nine (30 patients), 16 (15 patients) were reported. Increasing age (odds ratio [OR] = 1.13,...
Background: Accelerometers are accurate tools to assess movement and physical activity. However, interpreting standardly used outputs is not straightforward for populations with impaired mobility.Methods: The applicability of GENEActiv was explored in a group 30 participants myotonic dystrophy compared 14 healthy-controls. All performed set tests while wearing four different accelerometers (wrists ankles): [1] standing still; [2] ten-meters walk test; [3] six-minutes walking and, [4]...
Abstract Objectives Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible different phenotypes has proven problematic. The Outcome Measures Myotonic Dystrophy (OMMYD) group proposed a battery of functional outcomes: 6‐minute walk test, 30 seconds sit stand timed 10 m walk/run nine‐hole peg test. This, however, required large‐scale investigation, Methods A cohort 213 patients enrolled in the natural history study, PhenoDM1, was...
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and patients show similar disturbances in movement coordination often experiencing walking balance difficulties, although caused different underlying pathologies. This study aims to investigate the use of a scale previously described for assessment rating (SARA) with hypothesis that it could have utility as measure disease severity risk falling. Data from 54 were pulled PHENO-DM1 natural history analysis....
The objective of this cross-sectional, observational study was to investigate performance activities daily living in patients with myotonic dystrophy type 1 (DM1).
Research indicates that patients with myotonic dystrophy type 1 (DM1) are at increased risk of cancer and early death. Family data may provide insights given DM1 phenotypic heterogeneity, the broad range non-muscular manifestations usual delays in diagnosis DM1.Family history were collected from 397 genetically and/or clinically confirmed (respondents) enrolled US or UK registries. Standardized mortality ratios calculated for first-degree relatives (parents, siblings offspring) by their...
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in rapidly developing biomarker research field that aim to improve patients' care. Limited work, however, has been performed on rare diseases, including DM1. We have previously shown specific microRNAs (miRNAs) can be used as potential for DM1 progression. In this report, we aimed identify novel serum-based through...
ContentsIntroduction § 1. The function space and the change of variables 2. Normal form perturbed KdV equation 3. Stability conditions for invariant tori 4. shift operator along trajectories 5. Asymptotically stable 6. Behaviour on an torus 7. Periodic solutions 2-dimensional 8. Generalizations 9. non-linear Schrodinger 10. Invariant in a system weakly connected oscillators 11. Bifurcation fixed points operators 12. 13. 14. Supplement References
Introduction. Recent evidence demonstrates that women with myotonic dystrophy type 1 are at increased risk of reproductive organ tumors. However, studies cancer factors in those patients lacking. Methods. Using questionnaires, we collected and analyzed personal history information related to from enrolled a UK US registry for (dystrophia myotonica; DM) patients. Results. The survey was completed by 242 DM (DM1) 44 2 (DM2) the Registry (N=124) National (N=162). mean age DM1 diagnosis 33.8...
Abstract Objective The objective of this longitudinal, observational study was to investigate change over time in ability perform activities daily living myotonic dystrophy type 1 (DM1). Methods Adults with genetically confirmed DM1 were recruited as part the PhenoDM1 UK. Data on recorded through DM1-Activ C at baseline and a follow-up visit after 12 (± 3) months. A subset patients had advanced genetic testing determine size progenitor allele. Results Our sample comprised 150 (mean age: 45...
Myotonic dystrophy type 1 (DM1) is the most common monogenetic muscular disorder of adulthood. This multisystemic disease caused by CTG repeat expansion in 3'-untranslated region DM1 protein kinase gene called DMPK. DMPK encodes a myosin expressed skeletal muscle cells and other cellular populations such as smooth cells, neurons fibroblasts. The resultant expanded (CUG)n RNA transcripts sequester binding factors leading to ubiquitous persistent splicing deregulation. accumulation mutant CUG...