Future career intentions of higher specialist trainees in general Paediatrics.

Background: A survey of paediatric higher specialist trainees was carried out in 2002 assessing career intentions and perception of training. Fourteen years later, with increased numbers of trainees and a national model of care and a tertiary paediatric hospital on the horizon, we re-evaluated the career intentions of the current trainee workforce.

Aims: To assess the career intentions of the current paediatric higher specialist trainees.

Medical students' understanding of oral and maxillofacial surgery: an Irish perspective.

Oral and Maxillofacial Surgery (OMFS) remains an enigmatic specialty in Irish medicine and many students are unaware of its scope and the unique career pathway involved. We completed a multicentre cross-sectional study to identify their ability to identify the requirements for entry to specialty training year 3 (ST3) in OMFS, to assess their awareness of OMFS surgeons, and their general awareness of, and exposure to, the specialty. Data were collected through an electronic questionnaire.

Evaluating the neonatal BCG vaccination programme in Ireland.

Background: The aim of this study was to compare the cost effectiveness of the current Irish programme of universal BCG vaccination of infants versus a programme which considered selectively vaccinating high risk infants using decision analytical modelling.

Methods: The efficacy of the BCG vaccine was re-evaluated to inform a decision analytical model constructed to follow a birth cohort of vaccinated and unvaccinated infants over a 15 year time horizon. The number of life years gained (LYG) was the primary outcome measure and this was compared to the net cost of the vaccination strategies.

One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.

A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein.

Filaggrin inhibits generation of CD1a neolipid antigens by house dust mite-derived phospholipase.

Atopic dermatitis is a common pruritic skin disease in which barrier dysfunction and cutaneous inflammation contribute to pathogenesis. Mechanisms underlying the associated inflammation are not fully understood, and although Langerhans cells expressing the nonclassical major histocompatibility complex (MHC) family member CD1a are known to be enriched within lesions, their role in clinical disease pathogenesis has not been studied. We observed that house dust mite (HDM) allergen generates neolipid antigens presented by CD1a to T cells in the blood and skin lesions of affected individuals.

The novel pyrrolo-1,5-benzoxazepine, PBOX-6, synergistically enhances the apoptotic effects of carboplatin in drug sensitive and multidrug resistant neuroblastoma cells.

Neuroblastoma, a malignancy of neuroectoderrmal origin, accounts for 15% of childhood cancer deaths. Despite advances in understanding the biology, it remains one of the most difficult paediatric cancers to treat. A major obstacle in the effective treatment of neuroblastoma is the development of multidrug resistance (MDR).

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region.

Do high-risk infants have a poorer outcome from primary repair of coarctation? Analysis of 192 infants over 20 years.

Background: Balloon angioplasty for infant coarctation is associated with a high recurrence rate, making operative repair the gold standard for low-risk infants. Debate exists as to whether high-risk infants might be better served with primary angioplasty. We compared the outcome in high-risk versus low-risk infants over 20 years, in a center that always used surgical repair as the primary intervention.

The development of excitatory neurons in the chick cloaca.

Introduction: The enteric nervous system of the chick embryo hindgut is derived from the vagal and sacral neural tube. Nerve cells from these regions produce various neuronal phenotypes, including inhibitory and excitatory nerve cells, providing intrinsic innervation to the chick embryo cloaca. We hypothesised that the vagal and sacral neural tubes provide the cloaca, with phenotypically similar nerve cells.

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations.

Objective video quality measure for application to tele-echocardiography.

Real-time tele-echocardiography is widely used to remotely diagnose or exclude congenital heart defects. Cost effective technical implementation is realised using low-bandwidth transmission systems and lossy compression (videoconferencing) schemes. In our study, DICOM video sequences were converted to common multimedia formats, which were then, compressed using three lossy compression algorithms.