Computed tomography (CT) angiography for confirmation of the clinical diagnosis of brain death.

Background: The diagnosis of death using neurological criteria (brain death) has profound social, legal and ethical implications. The diagnosis can be made using standard clinical tests examining for brain function, but in some patient populations and in some countries additional tests may be required. Computed tomography (CT) angiography, which is currently in wide clinical use, has been identified as one such test.

The pathology of visible blood vessels on the nasal septum in children with epistaxis.

Objective: Epistaxis is common in children, but its cause remains unknown. About half the children who present with epistaxis have prominent vessels on the nasal septum. The aim of this study was to determine the pathological nature of the prominent septal vessels in children with recurrent epistaxis.

Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.

We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats' disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome.

Multifocal multi-organ ischaemia and infarction in a preterm baby due to maternal intravenous cocaine use: a case report.

Introduction: Although the adverse effects of cocaine use in pregnancy are well recognised, we believe this case highlights the importance of considering the route of administration, and suggests the possibility of multifocal damage relating to intravenous use.

Case Presentation: A Caucasian female baby of 29-weeks' gestation was spontaneously delivered and subsequently developed multi-organ failure considered unrelated to simple prematurity. Intensive care was re-orientated following the development of massive intraventricular haemorrhage.

Multifocal multi-organ ischaemia and infarction in a preterm baby due to maternal intravenous cocaine use: a case report.

Introduction: Although the adverse effects of cocaine use in pregnancy are well recognised, we believe this case highlights the importance of considering the route of administration, and suggests the possibility of multifocal damage relating to intravenous use.

Case Presentation: A Caucasian female baby of 29-weeks' gestation was spontaneously delivered and subsequently developed multi-organ failure considered unrelated to simple prematurity. Intensive care was re-orientated following the development of massive intraventricular haemorrhage.

Renal transplant biopsy specimen adequacy in a paediatric population.

Updated guidelines on the diagnosis of acute allograft rejection including criteria for biopsy specimen adequacy were published in 1999. We sought to determine the adequacy of specimens in paediatric transplant patients and identify factors influencing adequacy. All renal transplant biopsies performed between 1998 and 2003 were classified as adequate (n =25), minimal (n =19) or inadequate (n =27) in accordance with the Banff 97 criteria, and the histological diagnoses were documented.

Clinicopathological study of bilateral developmental cataracts diagnosed in utero.

Background: We report a case of unusual, bilateral developmental cataracts in a fetus with a supernumerary chromosome.

Methods: A 42-year-old woman presented during her 6th pregnancy for assessment of fetal karyotype. This showed a supernumerary chromosome derived from chromosome 21.

Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly.

Sudden and unexpected infant deaths can be unexplained [sudden infant death syndrome (SIDS)] or explained (non-SIDS) but risk factors including lower birthweight are similar in both groups. Mutations in the glucokinase (GK) gene result in Maturity Onset Diabetes of the Young type 2 (MODY 2) and are associated with lower birthweight. Low hepatic glucose-6-phosphatase (G6PC1) expression occurs in both low birthweight and SIDS infants.

Unadjusted and customised weight centiles in the identification of growth restriction among stillborn infants.

The study aims to compare the utility of unadjusted with customised weight standards in the identification of intrauterine growth restriction (IUGR) among unexplained stillborn infants undergoing postmortem examination. Unadjusted and customised birthweight centiles were determined for 51 unexplained stillborn infants undergoing perinatal autopsy. Unadjusted centiles were calculated from an ultrasonically derived fetal weight standard.

Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinases in different areas.

Thyroid hormones are required for human brain development, but data on local regulation are limited. We describe the ontogenic changes in T(4), T(3), and rT(3) and in the activities of the types I, II, and III iodothyronine deiodinases (D1, D2, and D3) in different brain regions in normal fetuses (13-20 wk postmenstrual age) and premature infants (24-42 wk postmenstrual age). D1 activity was undetectable.

Glomerular basement membrane thickness in children: a stereologic assessment.

Background: Stereologic methods have emerged as the technique of choice in assessing glomerular basement membrane (GBM) thickness, following conceptual modeling comparing the stereologic technique of harmonic mean of the orthogonal intercept estimation (Th) with the model based method of arithmetic mean estimation (ATH), with no direct comparison undertaken. We undertook to establish the gold standard for GBM estimation and use this technique to establish a range for GBM thickness in children.

Methods: Intra-observer and inter-glomerular variation was estimated in 34 cases with (presumed) normal GBM thickness, using Th, ATH and a rapid direct measurement technique, with intra-observer variation measured in 35 cases with GBM attenuation.