A5084164846- Ubiquitin and proteasome pathways
- Genomics and Rare Diseases
- Connective tissue disorders research
- Genetic factors in colorectal cancer
- Food Safety and Hygiene
- Quality and Supply Management
- Healthcare Policy and Management
- Musculoskeletal Disorders and Rehabilitation
- Nursing Education, Practice, and Leadership
- RNA regulation and disease
- Musculoskeletal pain and rehabilitation
- Food Allergy and Anaphylaxis Research
- Genomic variations and chromosomal abnormalities
- Pain Management and Opioid Use
- Spine and Intervertebral Disc Pathology
- Cardiac electrophysiology and arrhythmias
- Romani and Gypsy Studies
- Chronic Disease Management Strategies
- Ion channel regulation and function
- BRCA gene mutations in cancer
- COVID-19 Pandemic Impacts
- Quality and Management Systems
- Healthcare Systems and Technology
- Ion Transport and Channel Regulation
Children's Health Ireland at Crumlin
2021-2024
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular diagnoses. Variant classification, ranging from benign to pathogenic, is fundamental these tests. However, variant reclassification, process reassigning pathogenicity variants over time, poses challenges diagnostic legitimacy. This review explores medical and scientific literature available on focusing its implications. reclassification driven by accruing evidence diverse sources,...
Internationally, the COVID-19 pandemic severely curtailed access to hospital facilities for those awaiting elective/semi-elective procedures. For allergic children in Ireland, already waiting up 4 years an elective oral food challenge (OFC), restrictions signified indefinite delay. At time of initiative, there were approx 900 on Children's Health Ireland (CHI) list. In July 2020, a project was facilitated by short-term (6 weeks) empty COVID stepdown facility built, hotel conference centre,...
Abstract Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described literature, with early lethality some. We discuss clinical course of a patient from birth until his death at 7 months.
Abstract Inwardly rectifying potassium channels (K ir ) allow (K+) to easily move into cells. They are implicated in several diverse physiological processes throughout the body. KCNJ16 associated tubulopathy and deafness affects a subset of K transport channels. This disease was first described 2021, amongst cohort 9 patients total. Sudden cardiac arrest has been as presenting symptom previously. We report case an infant who presented with sudden (SCA) aged 7 months secondary severe...
Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. Eleven cases have been described literature, with early lethality some. We discuss clinical course of a patient from birth until his death at 7 months.