Keynote address: 'Old men and selfish spermatogonia: how much do they contribute to the mutation burden?' We present a study on a non-consanguineous Irish family that includes two siblings (male and female) with dilated cardiomyopathy (DCM) and chorioretinopathy. The children have been extensively investigated by the cardiac, metabolic and genetic teams but… (More)
Keynote address: " Marfan syndrome and related disorders: from gene to therapy " Prof. 3 AED Pregnancy register, UK and Ireland Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The risk magnitude varies by AED exposure. We provide results from the UK and Ireland Epilepsy and Pregnancy Registers,… (More)
Many genetic disorders in the Irish Traveller population follow a clan structure with certain disorders occurring only in specific clans or regions. Identification of disease genes can be simplified by comparing the genetic data of multiple patients with the same condition. However, this can be complicated for heterogeneous disorders whereby the same… (More)
What is Nephrology? Nephrology (literally the study of the kidney) has evolved over the last 60 years to become a major medical specialty. Early pioneering renal physiology experiments yielded insights into blood pressure regulation, electrolyte and acid-base balance. This physiological research, coupled with advances in immunology, was translated into… (More)
Fibrogenic growth factors can force epithelial cells of the lung, kidney and liver to undergo transition to a mesenchymal phenotype – a process known as epithelial to mesenchymal transition (EMT) 1. EMT contributes to fibrosis in these organs, and can be inhibited/reversed in animal models 2. EMT has not been shown in fibrotic skin disorders. We… (More)
Introduction: Sentinel Lymph Node Biopsy (SLNB) is set to become the standard of care for axillary staging in breast cancer. The aim of this study is to evaluate the tumour characteristics associated with false negative intraoperative imprint cytology.
The use of a low tilt biphasic waveform lowers the defibrillation threshold for the internal cardioversion of atrial fibrillation Purpose: Conventional defibrillators used for the internal cardioversion of atrial fibrillation (AF) employ high tilt waveforms generated by a capacitor based discharge. We have developed a biphasic waveform with low tilt. This… (More)