Publications by authors named "T W Prendiville"
Article Synopsis
- Long-QT syndrome type 3 (LQT3) is a cardiac ion channel disorder that increases the risk of dangerous heart rhythms, and this study aimed to create a model using human induced pluripotent stem cells (hiPSCs) to better understand the disease and test potential treatments.!
- Researchers generated hiPSCs from a patient with LQT3 and a healthy individual, employing CRISPR/Cas9 to introduce the same genetic mutation into healthy cells; all hiPSC lines were then converted into heart cells for analysis.!
- Both patient-derived and engineered LQT3 heart cells exhibited longer repolarization times, but treatments like mexiletine, nifedipine, and verapamil could effectively alter these
Article Synopsis
- The study focused on inherited heart diseases and the effectiveness of cardiac gene panel testing over an 18-year period in Ireland, emphasizing the need for diagnosing familial pathogenic variants to inform at-risk relatives.
- The initial diagnostic yield of pathogenic or likely pathogenic variants was found to be 28.4%, which increased to 33.1% after re-evaluating cases with uncertain variant significance, affecting nearly half the patients reviewed.
- The findings also highlighted that females were more likely to carry significant variants, with the highest diagnostic success seen in very young children and those tested for specific cardiomyopathy-related genes.
Cardiac rhabdomyomas are the most common benign pediatric heart tumor in infancy, which are commonly associated with tuberous sclerosis complex (TSC). Most rhabdomyomas are asymptomatic and spontaneously regress over time. However, some cases especially in neonates or small infants can present with hemodynamic instability.
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- - This study explored the long-term outcomes and factors that predict mortality in children under 18 with hypertrophic cardiomyopathy (HCM) associated with various RASopathy syndromes, including Noonan syndrome and others.
- - Researchers analyzed data from 149 patients over an average follow-up of about 16 years, finding that 15.43% of these children died, with survival rates differing significantly based on the specific RASopathy syndrome.
- - Key predictors of mortality and sudden cardiac death included the type of RASopathy, symptoms at diagnosis, heart failure presence, and certain heart function measurements, particularly highlighting a milder HCM type within Noonan-like syndrome that still had poorer survival rates.
Background: Venous thromboembolism (VTE) remains a significant cause of morbidity and mortality worldwide. Rivaroxaban, a direct oral factor Xa inhibitor, mediates anti-inflammatory and cardiovascular-protective effects besides its well-established anticoagulant properties; yet, these remain poorly characterized. Extracellular vesicles (EVs) are considered proinflammatory messengers regulating a myriad of (patho)physiological processes and may be highly relevant to the pathophysiology of VTE.
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