AIMS Wnt activation in medulloblastomas is associated with good outcome. Upfront testing and risk-adapted stratification of patients will be done in future clinical studies. In a cohort of 186 paediatric medulloblastomas our aim was to identify the optimal methods in standard clinical practice to detect this subgroup. METHODS Nuclear accumulation of β-catenin was analysed by immunohistochemis...

PURPOSE To correlate the metabolic activity of primary uveal melanoma on positron emission tomography (PET)/CT scan with known clinical and pathological prognostic factors. METHODS A retrospective cohort analysis of eyes enucleated for uveal melanoma that underwent preoperative imaging with a PET/CT scan was performed. Tumour dimensions were recorded and classified using Collaborative Ocular ...

OBJECTIVE We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a single-nucleotide polymorphism-based noninvasive prenatal aneuploidy test in high- and low-risk women. STUDY DESIGN All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisom...

Therapeutic options for children with de novo or secondary myelodysplastic syndromes (MDSs) are limited. We report the outcome of eight pediatric patients (median age 12 years, range 3 to 19 years) with myelodysplasia who underwent allogeneic bone marrow transplantation between 1984 and 1987. Two of the eight children had developed secondary myelodysplasia after alkylating agent-based combinati...

Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage. For each proband we obtained a clinical history and detailed behavioral descriptions. Genetic anomalies were observed in all probands, and likely clinical significance could be established in four cases. This included two ca...

UNLABELLED Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the output...

Sir The risk of developing thyroid dysfunction is higher in Turner syndrome (TS) than the general population 1,2 . In previous studies, the influence of karyotype 3 and thyroid autoantibodies 4 on thyroid disorder in patients with TS has been investigated. We therefore set out to determine the prevalence of thyroid dysfunction in Irish girls with TS. The impact of underlying karyotype and thyro...

Infants with complete or partial deletion of a G group autosome and of similar appearance have -been described by Lejeune et al. (1964), Reisman et al. (1966), and Thorburn and Johnson (1966). The infant with many congenital abnormalities reported by Lejeune et al. (1964) had a karyotype with autosomal mosaicism, involving a chromosome of the G group. One cell line was monosomic with 45 chromos...

PURPOSE Uveal melanoma is the most common intraocular primary tumor, involving iris, ciliary body and choroid. More than 90% of the patients develop hepatic metastasis with an average survival time of 7 months. We have used formalin fixed paraffin embedded sections to validate the presence of monosomy 3, an accurate predictor of metastasis, chromosome 8 isochromosome (8q22), and 1p36 deletion. ...