A5024552562- Amyotrophic Lateral Sclerosis Research
- Viral gastroenteritis research and epidemiology
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Aortic aneurysm repair treatments
- Parkinson's Disease Mechanisms and Treatments
- Salmonella and Campylobacter epidemiology
- Epilepsy research and treatment
- Congenital Anomalies and Fetal Surgery
- Pharmacological Effects and Toxicity Studies
- Drug-Induced Adverse Reactions
- Vector-Borne Animal Diseases
- Food Security and Health in Diverse Populations
- Hepatitis Viruses Studies and Epidemiology
- Fetal and Pediatric Neurological Disorders
- Listeria monocytogenes in Food Safety
- Family and Disability Support Research
- Intracranial Aneurysms: Treatment and Complications
- Autism Spectrum Disorder Research
- Food Safety and Hygiene
- Folate and B Vitamins Research
- Viral Infections and Vectors
- Neurological and metabolic disorders
- Restraint-Related Deaths
- Alzheimer's disease research and treatments
Trinity College Dublin
1992-2024
Health and Safety Authority
2024
Health Information and Quality Authority
2024
Mater Misericordiae University Hospital
2024
Beaumont Hospital
2018-2023
King's College London
2023
King's College Hospital
2023
Tallaght University Hospital
1992-2022
Beaumont Hospital, Dearborn
2020
Botsford Hospital
2020
Heritability describes the proportion of variance in risk developing a condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) known to have complex origin, disease heritability remains unclear.To determine extent ALS and assess association sex with transmission.A prospective population-based parent-offspring study was conducted from January 1, 2008, December 31, 2017 heritability, first context gene mutations large effect. A total 1123 incident cases...
Laboratory reports and data on hospital admissions were used to estimate the number of hospitalizations due group A rotavirus infection in England Wales. Between January 1990 December 1994, there 75,059 laboratory infection, 66,062 these children <5 years old; represented 39% all pathogens identified fecal specimens from this age group. April 1993 March 1904 coded as "infectious intestinal disease" 2354 "noninfective gastroenteritis" occurred North Thames region (a health authority...
To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates an Irish population and to determine factors influencing FALS ascertainment.Population-based data collected over 23 years, using the (ALS) register DNA biobank, were analyzed age-standardized of associated neuropsychiatric endophenotypes identified.Between 1994 2016, 269 patients with a family history ALS from 197 unique families included on register. Using stringent diagnostic criteria for FALS, mean...
Abstract Objectives Aducanumab is a monoclonal antibody which has recently been licenced for use by the food and drug administration treatment of patients with mild cognitive impairment due to Alzheimer's disease (AD) or AD dementia. Appropriate criteria (AUC) in clinical practice are available. We look review our specialist interdisciplinary service positive cerebrospinal fluid (CSF) biomarkers their hypothetical eligibility Aducanumab, similar anti‐amyloid agent. Methods Retrospective...
Mean weekly incidence rates for a 4‐week period of new episodes infectious intestinal disease (IID) and laboratory reports faecal isolations in children under 5 y age presenting general practice were used to estimate the IID due rotavirus infection England Wales. Between January 1992 December 1996, total 92452 seen at sentinel practices reported Royal College General Practitioners (RCGP) Research Unit Birmingham, UK. Of these 32% (29592) age. During same Communicable Disease Surveillance...
Objectives This study compares the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) within three clinic-based populations from Cuba, Uruguay and Ireland determines impact known ALS-associated genetic variants on phenotypic manifestations Cuban population. Methods Demographic information was collected 115 Cuban, 220 Uruguayan 1038 Irish ALS attending national specialist clinics through 1996–2017. All 676 underwent next-generation DNA sequencing were screened for...
Abstract First- and second-degree relatives of people with amyotrophic lateral sclerosis report higher rates neuropsychiatric disorders, indicating that risk genes may be pleiotropic, causing multiple phenotypes within kindreds. Such constitute a disease endophenotype associates liability. We have directly investigated cognitive functioning traits among to identify potential endophenotypes the disease. In family-based, cross-sectional study design, first- (n = 149) were compared controls 60)...
To describe a case of immune responsive new onset refractory status epilepticus in post-partum TBC1D24 variant carrier.
A hexanucleotide repeat expansion in the noncoding region of C9orf72 gene is most common genetically identifiable cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia populations European ancestry. Pedigrees associated with this exhibit phenotypic heterogeneity incomplete disease penetrance, basis which poorly understood. Relatives those carrying a characteristic cognitive endophenotype independent carrier status. To examine whether additional shared genetic or environmental...
Abstract Background A rare disease affects fewer than 5 in 10,000 people. More 6,000 known diseases affect up to 6% of the European population. national strategy sets out a country’s plan reduce burden and improve quality care for people with diseases. This review, requested by Department Health Ireland inform new strategy, described strategies 13 selected countries. Methods Strategies published from 2013 2023 were identified via online searches Austria, Australia, Denmark, England, Finland,...
Abstract Background Abdominal aortic aneurysm (AAA) is characterised by a bulging in the wall. AAA typically asymptomatic until rupture, which associated with very high mortality rate (approximately 80%). In context of an ageing population and increasing life expectancy, innovative approaches to early detection intervention are needed. The aim this review was assess clinical effectiveness safety one-time ultrasound screening for men. Methods Systematic searches were conducted electronic...
May 9, 2019April 2019Free AccessHeritability of ALS: A Population-based study over 24 years. (S54.001)Marie Ryan, Mark Heverin, Niall Pender, Russell McLaughlin, and Orla HardimanAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.S54.001 Letters to the Editor
To identify the earliest cognitive changes that occur in pre-symptomatic C9orf72 carriers.
<strong>Background:</strong> Jaw clonus is rhythmic, oscillatory contraction of jaw muscles induced by stretch and caused lesions the descending motor neurons in corticopontine tracts. <strong>Phenomenology shown:</strong> We illustrate elicited with activation upon testing jerk a patient amyotrophic lateral sclerosis. <strong>Educational value:</strong> This video clearly demonstrates uncommon sign clonus, finding which needs to be distinguished from tremor should direct examiner consider...
A neurological history was obtained and examination performed on 62 outpatient epileptics anticonvulsant therapy. Blood counts, folate B12 assays were all patients a control group of 59 adult non-epileptic outpatients. None the treated had clinical peripheral neuropathy; there one patient with microcytic anaemia normochromic, normocytic anaemia. In 5 this mean corpuscular volume (MCV) slightly raised but no significant overall difference from group. 17 serum subnormal in 7 red cell...
May 8, 2019April 9, 2019Free AccessA comparison of the clinical and genetic features Amyotrophic Lateral Sclerosis across Latin American European populations (P4.6-002)Orla Hardiman, Marie Ryan, Russell McLaughlin, Mark A. Doherty, Tatiana Zaldivar Vaillant, Joachen hackembruch, Abayuba Perna, Maria Cristina Vazquez, Giancarlo Logroscino, Carlos Ketzoian, Joel Gutierrez, Gloria Lara-FerandezAuthors Info & AffiliationsApril 2019 issue92...
A 70 year old left-handed man presented to his general practitioner with abnormal left arm movements, hemianopia and loss of balance. He was found have an isolated brachiocephalic artery aneurysm, measuring 3.5 cm, associated plaque rupture, contributing recurrent episodes transient ischemic attack. discussed extensively by a multidisciplinary team. e concurrently had complete occlusion the right internal carotid distal reconstitution in its supraclinoid segment from collaterals. Stenting...