Paradoxical fall in proteinuria during pregnancy in an LCAT-deficient patient-A case report.

A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3.

Audit of acute hypoglycaemia in children: re-audit of procedures for diagnosis.

Background: A protocol exists for the collection of samples to investigate unexplained hypoglycaemia, termed the 'hypopack'. These packs are kept in Accident and Emergency departments and neonatal special care baby units throughout Northern Ireland and most wards of the Regional Children's Hospital. A retrospective audit of 107 hypopacks received between July 2001 and December 2003 highlighted a number of problems: samples collected when the patient was receiving dextrose, incomplete clinical history provided, insufficient and haemolysed samples received and poor filing of reports in charts.

Sodium measurement: effects of differing sampling and analytical methods.

Background: It is recommended that children receiving intravenous fluids should have frequent biochemical monitoring, in some situations 4-6 hourly. Small changes in sodium must be detected, requiring very high precision from sodium analyses. Some children are monitored using venous blood analysed by indirect ion-selective electrode (ISE) interchangeably with capillary blood analysed by direct ISE.

Activation of peripheral blood CD14+ monocytes occurs in diabetes.

Blood levels of inflammatory markers associated with endothelial dysfunction and atherosclerosis are increased in diabetic patients; the highest levels occur in poorly controlled diabetes. We investigated the activation state of peripheral blood monocytes in diabetes with respect to scavenger receptor (CD36) expression and monocyte chemoattractant protein-1, intracellular adhesion molecule-1, vascular cell adhesion molecule-1, and peroxisome proliferator-activated receptors mRNA expression. CD14(+) monocytes were isolated from peripheral blood of type 1 and type 2 diabetic patients with good (HbA(1c) <7.