PubMed Health⌕ Search

Biomedical subjects

A E Clague

Publications and source records attributed to A E Clague.

At least 19 recordsLinked to original sources
PubMed1992

Routine use of hair root or buccal swab specimens for PCR analysis: advantages over using blood.

We report the use of hair roots and buccal cells as specimens of choice for DNA analysis of genetic diseases in a service laboratory. Our protocols using these specimen types show superiority to those using blood specimens in the areas of collection, transport, storage and overall cost. Our experience using these specimen types for 319 cystic fibrosis delta F508 mutation tests and 62 Leber's hereditary optic neuroretinopathy mutation tests leads us to recommend that hair roots and buccal cells should be evaluated as specimens of first choice when developing PCR DNA analysis.

Base Sequence↗
PubMed1991

In thiamine deficiency, activation of erythrocyte transketolase by thiamine in vivo exceeds activation by cofactor in vitro.

In 60 thiamine deficient patients, the mean erythrocyte transketolase activity after activation by thiamine diphosphate cofactor in vitro, representing the apparent sum of holoenzyme and apoenzyme activities, was 0.609 (SD 0.166) U/g Hb before thiamine therapy and rose to 0.772 (SD 0.152) U/g Hb immediately after the administration of thiamine to the patients. The difference between these values, 0.163 (SD 0.130) U/g, is the mean activity of transketolase protein which can be activated by thiamine in vivo but not by thiamine diphosphate in vitro. This difference correlated with low initial erythrocyte transketolase activity in these patients, but not with their alcohol intake, liver function or diagnoses.

Alcoholism↗
PubMed1991

Carnitine in dried blood spots: a method suitable for neonatal screening.

A method is described which enables the quantitative determination of both free and total carnitine levels in dried blood spots. This method is suitable for neonatal screening for either primary or secondary carnitine deficiency. The 95% confidence interval for free carnitine was 26-76 mumol/l (median = 44) and for total carnitine was 35-102 mumol/l (median = 60).

Carnitine↗
PubMed1991

In vitro OKT3-induced mitogenesis in selenium-deficient patients on a diet for phenylketonuria.

Patients with phenylketonuria (PKU) are frequently deficient in the essential trace element selenium (Se), because of their very low protein diet. Using two approaches to investigate T-cell response to proliferative signaling, viz, mitogenesis caused by the monoclonal antibody OKT3 and the plant lectin phytohaemagglutinin (PHA), we demonstrated significantly reduced responses to optimal concentrations of OKT3 in a group of PKU patients with reduced serum Se compared with a normal group (p = 0.0005) and with a group of PKU patients whose serum Se was normal (p = 0.0023). The response of the Se-deficient group to optimal levels of PHA did not differ from that of the normal controls or from that of Se-normal PKU patients. A dose-dependent relationship between serum Se levels and mitogenic response was evident for OKT3 (r = 0.34, p = 0.0154), but not for PHA (r = -0.02, p = 0.9086). We suggest that the reduced response to OKT3 mitogenesis in Se-deficient PKU patients is possibly the consequence of impaired Se-dependent metabolic activity, which affects mitogenic signaling via the T cell antigen receptor (TCR/CD3) complex.

Adolescent↗
PubMed1989

Nitromethane interferes in assay of creatinine by the Jaffé reaction.

A patient who ingested a methanol/nitromethane mixture (model airplane fuel) showed an apparent plasma creatinine concentration of 8.0 mmol/L by the Jaffé reaction when the actual creatinine concentration, as measured by a specific enzymatic method, was 0.09 mmol/L. This effect was due to nitromethane in the plasma. Interference by nitromethane with the determination of creatinine by reaction with alkaline picrate (the Jaffé reaction) has not previously been reported. When nitromethane was added to plasma, the apparent creatinine measured was linearly related to the amount of nitromethane added. Comparison of spectral changes occurring during creatinine/picrate and nitromethane/picrate reactions show substantial similarity, suggesting a similar structure for the products. Although the findings are of interest for both their toxicological and analytical implications, the main interest lies with their suggestion of a model system for future investigation of the Jaffé reaction.

Adult↗
PubMed1988

Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits.

A prospective study of children with galactosaemia is being undertaken at the Metabolic Clinic, Royal Children's Hospital, Brisbane. The purpose of the study is to collect biochemical, clinical, dietary, developmental and speech and language data. This paper describes the operation of the multiprofessional management programme and reports results for two groups of children: those who were diagnosed before the introduction of neonatal screening in 1982 (the prescreening group) and those who were identified by screening. The eight children in the prescreening group have shown intellectual development in the low-average to moderately-handicapped range. Most of them have speech and language difficulties. The screening group, all of whom are still in infancy or early childhood, appears to be developing normally, with the exception of one child who is showing problems with speech and language. The early results provide a basis for cautious optimism that neonatal screening and careful management will result in improved outcomes for children with galactosaemia.

Galactosemias↗
PubMed1988

Elevated lactate dehydrogenase isoenzyme 1 as a tumour marker in patients with germ cell testicular tumours.

In a series of 50 patients with testicular tumours evaluated prior to orchidectomy, 12 out of 19 with pure seminoma and seven out of 31 with non-seminomatous or mixed seminomatous and non-seminomatous germ cell tumours had elevated plasma lactate dehydrogenase isoenzyme 1 concentrations. In contrast, seven of the 19 seminoma patients had elevated serum human chorionic gonadotrophin (hCG) concentrations and 25 of the 31 non-seminomatous and mixed seminomatous and non-seminomatous germ cell tumour patients had elevations of hCG and/or alpha-fetoprotein. Using these three markers, 12 out of 19 seminoma patients and 27 out of 31 non-seminomatous or mixed seminomatous and non-seminomatous tumour patients were positive for one or more of these tumour markers.

Biomarkers, Tumor↗
PubMed1988

The effect of an acute phase response or pregnancy on plasma alpha-1-antitrypsin concentrations in persons with various S and Z phenotypes.

We have investigated the effect of an acute phase response on the plasma concentrations of alpha-1-antitrypsin (alpha 1 AT) in various phenotypes. Ninety seven per cent of patients with an acute phase response or pregnant patients who had an MS, MZ, S or SZ phenotype had alpha 1 AT levels within or above the reference interval of patients with the M phenotype who did not have an acute phase response. Thus a 'normal' concentration of plasma alpha 1 AT cannot be used to exclude even an S or SZ phenotype if the patient is pregnant or has an acute phase response.

Acute-Phase Reaction↗
PubMed1986

A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.

An infant with a deficiency of the enzyme uridine diphosphate galactose-4-epimerase was detected during galactosaemia screening of the Queensland newborn population. No case of epimerase deficiency has been reported previously in Australia and the incidence in our population is unknown. A deficiency of this enzyme is usually quite benign although two cases with a galactosaemia-like syndrome have been reported. This infant is developing normally, both intellectually and physically, in spite of extremely high levels of red blood cell galactose-1-phosphate. The introduction of newer methods of galactosaemia screening in Australia will probably result in the detection of other cases of this enzyme deficiency.

Australia↗
PubMed1986

The value of catecholamine metabolite determination on untimed urine collections in the diagnosis of neural crest tumours in children.

There is still controversy regarding the relative merits of catecholamine metabolite estimations on 24 h versus untimed urine collections. The former has the advantage of taking into account diurnal variation in the rate of metabolite excretion but has the disadvantages of delaying results and of being affected by errors in collection. In this study percentile values were established for a reference population of 181 children for urinary 4-hydroxy-3-methoxyphenylacetic acid (HVA)/creatinine and 163 children for 4-hydroxy-3-methoxymandelic acid (VMA)/creatinine, using untimed urine collections. Results of similar determinations performed as part of the diagnostic work up of 23 consecutive children subsequently proven to have neural crest tumours showed that all patients had the value of at least one metabolite concentration at or above the highest reference value. In neuroblastoma all patients' VMA/creatinine exceeded the highest reference value and in neural crest tumours overall, this ratio was greater than the highest reference value in 96% of patients. These results are as good as, or better than, previously published results and demonstrate the practical value of using catecholamine metabolite determinations expressed as 'creatinine equivalents' on untimed urine specimens in the diagnosis of neuroblastoma and related tumours in children.

Child↗
PubMed1986

The rapid decline in erythrocyte transketolase on cessation of high-dose thiamine administration in Korsakoff patients.

This paper reports two studies carried out on patients with the Wernicke-Korsakoff (W-K) syndrome and control subjects. All had been mental hospital inpatients for at least 12 months. In the first study the changes in the thiamine-dependent enzyme erythrocyte transketolase (TK) which followed the administration of oral thiamine are described. Essentially the two patient samples responded similarly. In the second study patients who had been maintained on high-dose thiamine for several months stopped this treatment abruptly. The subsequent decline in TK is described. In W-K patients this decline was rapid and virtually complete at four weeks. In control subjects the decline was much more gradual. These findings offer support to other evidence suggesting a difference between TK in W-K and control subjects.

Alcohol Amnestic Disorder↗