Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold.

Background: The UK Newborn Screening Programme Centre recommends that a blood spot thyroid stimulating hormone (TSH) cut-off of 10 mU/l is used to detect congenital hypothyroidism (CHT). As the value used varies from 5 to 10 mU/l, we examined the implications of altering this threshold.

Methods: Our regional blood spot TSH cut-off is 6 mU/l.

Second trimester maternal serum ADAM12 levels in Down's syndrome pregnancies.

Objective: To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker.

Methods: Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected pregnancies, and expressed in multiples of the gestation-specific median (MoM).

Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold.

Background: Revised UK neonatal screening guidelines recommend that a second blood sample for assay of thyroid stimulating hormone (TSH) be taken when preterm infants reach a postmenstrual age of 36 weeks.

Objective: To examine the results of a regional screening programme to see whether a rise in TSH concentration was observed in some preterm infants between the first sample taken around 5 days after delivery and the second sample taken at around 36 weeks.

Methods: Whole-blood TSH concentrations in preterm infants born over a 2-year period (April 2005 to March 2007) were assessed, and the number of infants in whom there was a fall or rise to values below or above the local screening threshold (6 mU/l) was determined.

A study to determine the minimum volume of blood necessary to be discarded from a central venous catheter before a valid sample is obtained in children with cancer.

Background: The objective of this study was to determine the minimum volume of blood that should be discarded from a range of different types of central venous catheter (CVC), such that the subsequent blood sample was not diluted or contaminated by the residual intra-luminal fluid.

Procedure: Seventy children aged 1-19 years with central venous access inserted as part of their standard clinical treatment were recruited to this prospective study. Statistical comparison of the extent of variation in biochemical and haematological parameters observed between two blood samples taken following routine 5 ml discard blood volumes, as compared to the extent of variation between samples drawn following a 5 ml discard volume and <5 ml volumes, was carried out.

An investigation into the need for supplementary steroids in organ transplant patients undergoing gingival surgery. A double-blind, split-mouth, cross-over study.

Organ transplant patients are frequently medicated with triple immunosuppressive therapy that includes both cyclosporin and the corticosteroid, prednisolone. Many of these patients experience gingival overgrowth that necessitates surgical intervention. Chronic dosing with corticosteroids can lead to suppression of the hypothalamic-pituitary axis, and subsequent adrenocortical suppression.

Androgen supplementation in eugonadal men with osteoporosis: effects of six months' treatment on markers of bone formation and resorption.

There is no established treatment for osteoporosis in men, a common and disabling condition the incidence of which is increasing rapidly. We conducted an open study to investigate the efficacy and mode of action of testosterone therapy in eugonadal men with osteoporotic vertebral crush fracture. Twenty-one men, aged 34-73 (mean 58), were treated with intramuscular testosterone esters (Sustanon 250) every 2 weeks for 6 months.

CSF and plasma amino acid levels in motor neuron disease: elevation of CSF glutamate in a subset of patients.

Fasting plasma and/or CSF amino acid levels have been measured in a group of 37 patients with motor neurone disease (MND) and in 35 neurological control patients undergoing lumbar puncture prior to myelography. There were no significant differences in the plasma levels of 22 amino acids between the two groups. In CSF, there was a significant elevation of the glutamate level in the MND patients (P = 0.

Biotinidase deficiency: a survey of 10 cases.

Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria.

Hormone studies in a case of virilisation due to ovarian tumour.

The investigation is described of a 62-year-old female patient who presented with severe virilisation; her plasma testosterone concentration was grossly elevated at 37.9 nmol/L. Measurement of plasma androstenedione, dehydroepiandrosterone (DHEA) and DHEA-sulphate, urinary 17-oxosteroids and urinary 'free' cortisol suggested an ovarian source of androgens.

Enzyme studies in biotin-responsive disorders.

There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylation of apocarboxylases due to a mutation of holocarboxylase synthetase (EC 6.3.4.

A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline.

The previously reported method for the estimation of biotinidase (EC 3.5.1.

Relationship of lymphocyte anisocytosis in chronic lymphatic leukaemia to mouse red cell rosetting capacity and clinical stage.

In 34 patients with chronic lymphatic leukaemia (CLL) the lymphocytes have been separated and sized using a C1000 Channelyzer. The modal volume and the volume range of the populations have been obtained and related to clinical stage and mouse red blood cell (MRBC) rosetting capacity. Over 1 year's observation with several estimations per patient there was no convincing drift towards increase in modal volume with deteriorating clinical status.