Plastic bronchitis: a rare complication of long-term haemodialysis catheter placement in a child.

Background: Despite peritoneal dialysis being the preferred mode of renal replacement therapy in neonates and infants, long-term haemodialysis may be necessary in a minority of patients with its attendant risks.

Case Diagnosis/treatment: This case identifies plastic bronchitis as a rare yet serious complication of long-term large bore vascular access when a vessel-sparing approach is not possible.

Conclusions: An appropriately sized catheter should be used for the dialytic therapy required and to optimize access survival.

G9a drives hypoxia-mediated gene repression for breast cancer cell survival and tumorigenesis.

G9a is an epigenetic regulator that methylates H3K9, generally causing repression of gene expression, and participates in diverse cellular functions. G9a is genetically deregulated in a variety of tumor types and can silence tumor suppressor genes and, therefore, is important for carcinogenesis. Although hypoxia is recognized to be an adverse factor in tumor growth and metastasis, the role of G9a in regulating gene expression in hypoxia has not been described extensively.

Systematic Review of Animal Models Used in Research of Origins and Treatments of Fecal Incontinence.

Background: Fecal incontinence is a common disorder, but its pathophysiology is not completely understood.

Objective: The aim of this review is to present animal models that have a place in the study of fecal incontinence.

Data Sources: A literature review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines performed in August 2016 revealed 50 articles of interest.

Imaging the Abdominal Manifestations of Cystic Fibrosis.

Cystic fibrosis (CF) is a multisystem disease with a range of abdominal manifestations including those involving the liver, pancreas, and kidneys. Recent advances in management of the respiratory complications of the disease has led to a greater life expectancy in patients with CF. Subsequently, there is increasing focus on the impact of abdominal disease on quality of life and survival.

Incidence of Fragile X syndrome in Ireland.

Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. Ascertainment was achieved for a cross-sectional study by a retrospective, clinical and laboratory database review of positive FXS cases, born in either ROI or NI, between years 2000-2009 inclusive.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.

The predictive value of serum S100A9 and response to etanercept is not confirmed in a large UK rheumatoid arthritis cohort.

Objective: The aim was to correlate protein concentrations of S100A9 in pretreatment serum samples with response to the tumour-necrosis factor (TNF) inhibitor drugs etanercept in a large UK replication cohort.

Methods: Pretreatment serum samples from patients with RA (n = 236) about to commence treatment with etanercept had S100A9 serum concentration measured using an ELISA. Following the experimental procedure, S100A9 concentrations were analysed with respect to EULAR response.

Echocardiographic approach to cardiac tamponade in critically ill patients.

Cardiac tamponade should be considered in a critically ill patient in whom the cause of haemodynamic shock is unclear. When considering tamponade, transthoracic echocardiography plays an essential role and is the initial investigation of choice. Diagnostic sensitivity of transthoracic echocardiography is dependent on image quality, and in some cases a transoesophageal approach may be required to confirm the diagnosis.

Pulmonary fibrosis: tissue characterization using late-enhanced MRI compared with unenhanced anatomic high-resolution CT.

Purpose: We aimed to prospectively evaluate anatomic chest computed tomography (CT) with tissue characterization late gadolinium-enhanced magnetic resonance imaging (MRI) in the evaluation of pulmonary fibrosis (PF).

Methods: Twenty patients with idiopathic pulmonary fibrosis (IPF) and twelve control patients underwent late-enhanced MRI and high-resolution CT. Tissue characterization of PF was depicted using a segmented inversion-recovery turbo low-angle shot MRI sequence.

Identification of priorities for improvement of medication safety in primary care: a PRIORITIZE study.

Background: Medication error is a frequent, harmful and costly patient safety incident. Research to date has mostly focused on medication errors in hospitals. In this study, we aimed to identify the main causes of, and solutions to, medication error in primary care.

Evaluation of normalization of cerebro-placental ratio as a potential predictor for adverse outcome in SGA fetuses.

Background: Intrauterine growth restriction accounts for a significant proportion of perinatal morbidity and mortality currently encountered in obstetric practice. The primary goal of antenatal care is the early recognition of such conditions to allow treatment and optimization of both maternal and fetal outcomes. Management of pregnancies complicated by intrauterine growth restriction remains one of the greatest challenges in obstetrics.

Cycling Injuries Presenting to an Irish Emergency Department.

There is little published data on cycling injuries in Ireland and the present study aims to describe the cycling related injuries presenting to the emergency department (ED), of a tertiary urban university hospital. This is a retrospective review of cycling-related injuries presenting to the ED of St. Vincent's University Hospital (SVUH) from 1st of January to 31st of December 2014.

Survey Definitions of Gout for Epidemiologic Studies: Comparison With Crystal Identification as the Gold Standard.

Objective: To identify the best-performing survey definition of gout from items commonly available in epidemiologic studies.

Methods: Survey definitions of gout were identified from 34 epidemiologic studies contributing to the Global Urate Genetics Consortium (GUGC) genome-wide association study. Data from the Study for Updated Gout Classification Criteria (SUGAR) were randomly divided into development and test data sets.

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3.

The Effect of Bariatric Surgery on Diabetic Retinopathy: Good, Bad, or Both?

Bariatric surgery, initially intended as a weight-loss procedure, is superior to standard lifestyle intervention and pharmacological therapy for type 2 diabetes in obese individuals. Intensive medical management of hyperglycemia is associated with improved microvascular outcomes. Whether or not the reduction in hyperglycemia observed after bariatric surgery translates to improved microvascular outcomes is yet to be determined.

Clinician-identified problems and solutions for delayed diagnosis in primary care: a PRIORITIZE study.

Background: Delayed diagnosis in primary care is a common, harmful and costly patient safety incident. Its measurement and monitoring are underdeveloped and underutilised. We created and implemented a novel approach to identify problems leading to and solutions for delayed diagnosis in primary care.

Detection of anti-drug antibodies using a bridging ELISA compared with radioimmunoassay in adalimumab-treated rheumatoid arthritis patients with random drug levels.

Objective: To determine the concordance between RIA and bridging ELISA at detecting anti-drug antibodies (ADAbs) in the context of random adalimumab levels and investigate the additional clinical utility of detecting ADAbs in RA patients who test ADAb positive by RIA and negative by ELISA.

Methods: ADAb levels were determined using RIA and bridging ELISA in 63 adalimumab-treated RA patients (159 samples). Immunogenicity concordance was determined using receiver operating characteristic curves.

Rationale and Design of the Genetic Contribution to Drug Induced Renal Injury (DIRECT) Study.

Introduction: Nephrotoxicity from drugs accounts for 18% to 27% of cases of acute kidney injury. Determining a genetic predisposition may potentially be important in minimizing risk. The aims of this study are as follows: to determine whether a genetic predisposition exists for the development of drug-induced kidney disease (DIKD), using genome-wide association and whole-genome sequencing studies; to describe the frequency, course, risk factors, resolution and outcomes of DIKD cases; to investigate the role of ethnic/racial variability in the genetics of DIKD; and to explore the use of different tools establishing causality of DIKD.

Is diffusion-weighted MRI sufficient for follow-up of neuroendocrine tumour liver metastases?

Aim: To assess if diffusion-weighted imaging (DWI) alone could be used for follow-up of neuroendocrine hepatic metastases.

Material And Methods: This was a retrospective study, approved by the institutional review board. Twenty-two patients with neuroendocrine liver metastases who had undergone more than one liver magnetic resonance imaging (MRI) examination, (including DWI and using hepatocyte-specific contrast medium) were evaluated.

Gestational hypertensive disease in twin pregnancy: Influence on outcomes in a large national prospective cohort.

Objective: Gestational hypertensive disease (GHD) is associated with pregnancy-related complications and poor maternal and fetal outcomes in singleton pregnancies. We sought to examine the influence of GHD in a large prospective cohort of twin pregnancies.

Study Design: The ESPRIT study was a national multicenter observational cohort study of 1028 structurally normal twin pregnancies.

Low-molecular-weight heparin to prevent recurrent venous thromboembolism in pregnancy: Rationale and design of the Highlow study, a randomised trial of two doses.

Background: Women with a history of venous thromboembolism (VTE) have a 2% to 10% absolute risk of VTE recurrence during subsequent pregnancies. Therefore, current guidelines recommend that all pregnant women with a history of VTE receive pharmacologic thromboprophylaxis. The optimal dose of low-molecular-weight heparin (LMWH) for thromboprophylaxis is unknown.