Publications by authors named "M Pentony"
Background: To quantify the proportion of referrals sent to Crumlin Cardiology Department for cardiac screening prior to commencement or modifying attention deficit hyperactivity disorder medication and assess the number detected with a clinically significant abnormality.
Methods: A prospective audit was performed over a 6-month period, from November 2021 to April 2022 inclusive. Referrals sent via outpatient department triage letters, electrocardiogram dept.
Article Synopsis
- Whole genome sequencing (WGS) is being increasingly used to diagnose rare diseases, but traditional methods often have low diagnostic yields, typically 25-30%.
- In a study involving 122 rare disease patients and their relatives, a comprehensive bioinformatics approach led to a diagnostic yield of 35%, with 39% solved when including novel gene candidates.
- The study also identified several novel genes, expanded the phenotypic understanding of existing conditions, and resulted in critical changes to clinical diagnoses and treatments for some patients.
Aim: To quantify the proportion of children who develop dystonia after acquired brain injury (ABI) admitted to a tertiary paediatric intensive care unit (PICU) and analyse the trajectory of dystonia over a 6 month period.
Methods: Children's Health Ireland at Temple Street PICU electronic database was searched for key terms related to ABI from January 1, 2016 to March 14, 2021. Individuals meeting inclusion criteria were analysed, and clinical data pertinent to ABI, dystonia, treatment and outcomes were reviewed.
Background: ADP-A2M10 specific peptide enhanced affinity receptor (SPEAR) T cells (ADP-A2M10) are genetically engineered autologous T cells that express a high-affinity melanoma-associated antigen A10 (MAGE-A10)-specific T-cell receptor (TCR) targeting MAGE-A10 tumors in the context of human leukocyte antigen (HLA)-A*02. ADP-0022-003 was a phase I dose-escalation trial that aimed to evaluate the safety and antitumor activity of ADP-A2M10 in non-small cell lung cancer (NSCLC) (NCT02592577).
Methods: Eligible patients were HLA-A*02 positive with advanced NSCLC expressing MAGE-A10.
Intrahepatic cholangiocarcinoma (ICC) is an aggressive cancer arising from the bile ducts with a need for earlier diagnosis and a greater range of treatment options. mutations are common in ICC tumours and 6-32% of patients also have isocitrate dehydrogenase 1 and 2 ( and ) gene mutations associated with metabolic changes. This feasibility study investigated sequencing circulating tumour DNA (ctDNA) combined with metabolite profiling of plasma as a method for biomarker discovery in ICC patients.
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