Publications by authors named "Padraic MacMathuna"

Background: Colorectal cancer (CRC) screening services in Ireland were cancelled or postponed for periods during the COVID-19 pandemic. The aim of this study was to assess the impact of screening colonoscopy delays after a positive FIT on clinical and histopathological outcomes due to these restrictions.

Methods: Participants in the Irish National Bowel Screening Programme with a positive Immunochemical Faecal Test (FIT) during the COVID-19 pandemic (March 2020-December 2021) were included.

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Background: Radical changes to clinical and endoscopy practice have been rapidly introduced following the spread of severe acute respiratory syndrome coronavirus 2 (SARS-COV-2). Urgent endoscopies are, however, intended to proceed as normal with additional personal protective procedures. A perceived reduction in hospital attendances may suggest a number of urgently indicated endoscopic retrograde cholangio-pancreatographies (ERCPs) are being missed.

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Background: Coeliac disease (CD) is associated with an increased risk of other immune-mediated conditions. : To investigate the prevalence of coexistent immune-mediated diseases in CD patients, and changes in the prevalence of autoimmune thyroidal diseases over the last 50 years.

Methods: Medical record data were collected retrospectively from 749 CD patients in Ireland.

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Colorectal cancer accounts for 11% of all cancer-related deaths in Ireland. With the aim of diagnosing these cancers at an earlier stage, and detecting premalignant lesions, the National Screening Service (NSS) offered a fecal immunochemical test (FIT) to all individuals aged 60 to 69. All individuals in the age range were contacted by post and invited to participate in the programme.

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A 68-year-old gentleman was referred for elective upper gastrointestinal endoscopy on a background of dysphagia and esophageal candidiasis. A benign peptic stricture was noted, managed with balloon dilation without apparent immediate complication. At completion, however, the patient became confused and agitated, with no improvement despite the reversal of sedation.

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Background And Aims: Golimumab (GLB) is an antitumour necrosis factor-α (anti-TNF) therapy that has shown efficacy as induction and maintenance therapy for ulcerative colitis (UC). We aimed to describe the outcome of GLB therapy for UC in a real-world clinical practice.

Patients And Methods: Consecutive patients receiving GLB for UC in six Irish Academic Medical Centres were identified.

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Background: We present the 15-year experience of a family colorectal cancer screening service in Ireland with emphasis on real life experience and outcomes.

Methods: Questionnaires were used to assess family cancer history and assign patients to risk categories; 'Moderate Risk', HNPCC, (suspected) genetic syndrome (non-HNPCC), 'Low Risk'. Screening was by full colonoscopy.

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Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the mismatch repair-deficient (dMMR) phenotype has therapeutic implications. We investigated the pattern and consequence of testing for dMMR in three Irish Cancer Centres (CCs).

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Background & Aims: Celiac disease is an immune-mediated enteropathy characterized with high heterogeneity in presentation among genetically predisposed individuals. In recent years, a change in the phenotypic presentation of celiac disease has been reported. We studied clinical presentation, from 1960 through 2015, in Ireland, which has a high incidence of celiac disease.

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Our aim was to determine if water-enhanced antegrade magnetic resonance (MR) pyelography can be an alternative to conventional antegrade pyelography in pregnant patients who require percutaneous nephrostomy placement for urosepsis and/or obstructive uropathy. The pregnant patient was placed supine in a 1.5-T MRI scanner seven days after percutaneous nephrostomy placement using ultrasound.

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Coeliac disease (CD) is a chronic immune-mediated disease triggered by the ingestion of gluten. It has an estimated prevalence of approximately 1% in European populations. Specific HLA-DQA1 and HLA-DQB1 alleles are established coeliac susceptibility genes and are required for the presentation of gliadin to the immune system resulting in damage to the intestinal mucosa.

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Article Synopsis
  • Achalasia is a swallowing disorder caused by increased tension in the lower oesophageal sphincter, with treatments focused on lowering this tension, mainly using pneumatic dilation (PD) or botulinum toxin (BTX) injection.
  • A systematic review was conducted to evaluate and compare the effectiveness and safety of these two endoscopic treatments for achalasia, involving a thorough search of various medical databases.
  • The analysis of seven studies with 178 participants showed no significant difference in remission rates or oesophageal pressures between PD and BTX within four weeks of treatment.
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Background & Aims: Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found the risk to be BE has been associated with single nucleotide polymorphisms (SNPs) on chromosome 6p21 (within the HLA region) and on 16q23, where the closest protein-coding gene is FOXF1. Subsequently, the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) identified risk loci for BE and esophageal adenocarcinoma near CRTC1 and BARX1, and within 100 kb of FOXP1.

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Introduction: Neuroepithelial Transforming Gene 1 (NET1) is a well characterised oncoprotein and a proven marker of an aggressive phenotype in a number of cancers, including gastric adenocarcinoma. We aimed to investigate whether NET1 plays a functional role in oesophageal cancer (OAC) and its pre-malignant phenotype Barrett's oesophagus.

Methods: Baseline NET1 mRNA levels were determined by qPCR across a panel of six cell lines, including normal oesophageal, Barrett's and OAC derived cells.

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Background And Aims: Performing endoscopic ultrasound (EUS) before endoscopic retrograde cholangiopancreatography (ERCP) has been described to be useful in cases of suspected biliary obstruction where EUS can triage patients for ERCP. We aimed to determine the diagnostic accuracy of EUS and its impact on ERCP burden in real clinical practice. We also evaluated the safety and efficacy of EUS+ERCP in a single endoscopic session.

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Background: NET1, a RhoA guanine exchange factor, is up-regulated in gastric cancer (GC) tissue and drives the invasive phenotype of this disease. In this study, we aimed to determine the role of NET1 in GC by monitoring the proliferation, motility and invasion of GC cells in which NET1 has been stably knocked down. Additionally, we aimed to determine NET1-dependent transcriptomic events that occur in GC.

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Introduction: We have previously reported that Myeov (MYEloma OVerexpressed gene) expression is enhanced in colorectal cancer (CRC) and that it promotes CRC cell proliferation and invasion. The role of Myeov in CRC migration is unclear. ProstaglandinE2 (PGE 2) is a known factor in promoting CRC carcinogenesis.

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Background: Recent whole genome analysis and follow-up studies have identified many new risk variants for coeliac disease (CD, gluten intolerance). The majority of newly associated regions encode candidate genes with a clear functional role in T-cell regulation. Furthermore, the newly discovered risk loci, together with the well established HLA locus, account for less than 50% of the heritability of CD, suggesting that numerous additional loci remain undiscovered.

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We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.

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Background: A variety of stent designs has been studied for endoscopic stenting of the bile duct in patients with malignant biliary obstruction. Although metal stents are associated with longer patency, their costs are significantly higher than plastic stents.

Aims: To compare clinical outcome and cost-effectiveness of endoscopic metal and plastic stents for malignant biliary obstruction by a systematic review and meta-analysis of all randomized controlled trials in this area.

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Efforts aimed at deciphering the molecular basis of complex disease are underpinned by the availability of high throughput strategies for the identification of biomolecules that drive the disease process. The completion of the human genome-sequencing project, coupled to major technological developments, has afforded investigators myriad opportunities for multidimensional analysis of biological systems. Nowhere has this research explosion been more evident than in the field of transcriptomics.

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Specific combinations of transcription-factor binding sites in the promoter regions of genes regulate gene expression, and thus key functional processes in cells. Analysis of such promoter regions in specific functional contexts can be used to delineate novel disease-associated genes based on shared phenotypic properties. The aim of this study was to utilize promoter analysis to predict cell proliferation-associated genes and to test this method in colon cancer cell lines.

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Background: Surgical bypass and endoscopic stents are available for palliative bypass of malignant distal biliary obstruction.

Aim: Comparison of reported outcomes in randomized controlled trials (RCTs) which included surgery, endoscopic plastic stents or endoscopic metal stents in palliative relief of malignant distal biliary obstruction.

Methods: Systematic review and meta-analysis of published literature and conference proceedings review to June 2006.

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We have identified novel colorectal cancer-associated genes using NCBI's UNIGENE cDNA libraries. Colon cancer libraries were examined using Digital Differential Display and disease-associated genes were selected. Among these were ETV4 and MYEOV, novel colorectal cancer-associated genes.

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