Coeliac screening in a high-risk population: paediatric type 1 diabetes-a review of current guidelines and practice.

Background And Aims: Coeliac disease (CD) is more common in those with type 1 diabetes mellitus (T1DM) and may be asymptomatic despite the presence of intestinal histological changes. Optimal screening practice guidelines differ internationally. We undertook a retrospective audit to determine the efficacy of current screening practice for CD in T1DM in our centre.

A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy.

Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.

Incidence of Low-Grade Testicular Injury in Orchidectomy Specimens Post-testicular Torsion.

Introduction:  Following detorsion and orchidopexy for testicular torsion, predominantly animal studies have reported a risk of autoimmune and reperfusion injury to the contralateral testis. As a result, when testicular viability is compromised, orchidectomy is readily performed. This practice increases the likelihood of testes with potentially reversible injury being excised.

Symmetrical thalamic calcification: A trio whole exome sequencing negative series.

Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Background: Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi origin, representing the largest ILFS1 cohort to date. Our study aims to define the ILFS1 clinical phenotype to help guide diagnosis and patient management.

Search for low-mass weakly interacting massive particles with SuperCDMS.

We report a first search for weakly interacting massive particles (WIMPs) using the background rejection capabilities of SuperCDMS. An exposure of 577 kg days was analyzed for WIMPs with mass <30  GeV/c(2), with the signal region blinded. Eleven events were observed after unblinding.

Ichthyosis prematurity syndrome: a case report and review of known mutations.

Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.

Sudden unexplained death in childhood. An audit of the quality of autopsy reporting.

Cases of sudden unexplained death in childhood (SUDC) in Ireland in children aged > 1 year and < 5 years were examined in order to assess the quality of autopsy reporting. All SUDC cases are notified to and documented by the National Sudden Infant Death Register (NSIDR) in Ireland along with all cases of sudden infant death syndrome (SIDS) referring to sudden infant deaths less than one year of age. The database of the NSIDR in Ireland was interrogated and cases of SIDS and SUDC were compared over a fifteen-year period (1995-2009).

BCGitis in a patient with transient hypogammaglobulinemia of infancy.

Reactions to the Bacille Calmette-Guerin (BCG) vaccine are not uncommon and have been reported in association with immunodeficiency syndromes. We report a case of an infant developing a localized BCG reaction, confirmed histologically, associated with transient hypogammaglobulinemia of infancy. Conservative management of localized BCG reactions is appropriate in most cases.

Sudden unexplained death in childhood (1-4 years) in Ireland: an epidemiological profile and comparison with SIDS.

Objective: To examine the incidence of sudden unexplained death in children 1-4 years old (SUDC) in Ireland and to compare the epidemiological profile of SUDC with that of SIDS.

Design: All cases of sudden unexplained death in children <5 years in Ireland between 1994 and 2008 were reviewed. Epidemiological information obtained from parental questionnaires and post-mortem reports was examined, and data on cases ≥52 weeks compared with cases <52 weeks.

The value of neonatal autopsy.

Background And Objective: Neonatal autopsy rates were in decline internationally at the end of the last century. Our objective was to assess the current value of neonatal autopsy in providing additional information to families and healthcare professionals.

Methods: We conducted a review of neonatal autopsies performed in a tertiary perinatal centre over an 11-year period.

A VA medical center's PTSD residential recovery program.

With the influx of military veterans with Post Traumatic Stress Disorder (PTSD) increasingly affecting all healthcare facilities, including acute care and long term, learning from the experience of VA hospitals in treating those with PTSD may prove valuable. In this article, Tripler/VA Provost Marshal Donald E. Delaney describes a program that has been in operation since 1994.

Can a more detailed evaluation of excision margins refine cytologic follow-up of women post-LLETZ for high-grade dysplasia?

The relationship between dysplastic changes in the cervical epithelium and progression to in situ carcinoma and invasive carcinoma has been extensively studied. The removal of dysplastic epithelium through the long loop excision of the transformation zone (LLETZ) in 95% of the cases is curative. About 18% to 37% of LLETZ specimens with dysplasia at the margins have recurrent/residual disease.

A novel association of gastric ischaemia and aortic coarctation.

We report a newborn who presented with acute abdominal distension secondary to gastric ischaemia with an associated undiagnosed coarctation of the descending aorta. This is the first description of such a previously unrecognised association, which is discussed further with reference to the current literature.

First report of sudden death due to myocarditis caused by adenovirus serotype 3.

Myocarditis is a rare cause of sudden death in childhood. We describe the sudden death of a child from viral myocarditis, which we demonstrate was likely caused by an uncontrolled inflammatory response to a disseminated adenovirus serotype 3 infection originating in the tonsil.

Schwannosis induced medullary compression in VACTERL syndrome.

A 7-year-old boy with a history of VACTERL syndrome was found collapsed in bed. MRI had shown basilar invagination of the skull base and narrowing of the foramen magnum. Angulation, swelling and abnormal high signal at the cervicomedullary junction were felt to be secondary to compression of the medulla.

Impact of sewage sludge applications on the biogeochemistry of soils.

This report describes an investigation into the bioavailability and fate of trace metals and their subsequent impact on important soil microbiological functions such as nitrification, denitrification and methane oxidation in low and high Cu containing soils in the presence and absence of residual organic matter from sewage sludge additions made 10 years earlier. The soils being studied are part of long term sewage sludge trials and include a low Cu soil (13.3 mg Cu/kg soil, 4.

Infantile pyoderma gangrenosum.

Pyoderma gangrenosum (PG) is rare in infants. There have been 12 cases of PG in infants (<12 months old) reported in the past 25 years, to our knowledge. Six of these cases have been successfully controlled with systemic steroids, and one case with topical steroids alone.

Penile malignant peripheral nerve sheath tumour (schwannoma) in a three-year-old child without evidence of neurofibromatosis.

Malignant schwannoma (malignant peripheral nerve sheath tumour, MPNST) is a rare high-grade tumour arising from peripheral nerves. We report the case of a 3-year-old male who presented with a non-tender lesion on the dorsum of his penis. The lesion was excised and a formal circumcision performed.