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Biomedical subjects

G Turner

Publications and source records attributed to G Turner.

At least 163 records · Page 9Linked to original sources
PubMed1994

Brain death in pediatric intensive care unit patients: incidence, primary diagnosis, and the clinical occurrence of Turner's triad.

OBJECTIVES: To determine the incidence and characteristics of children with brain death in the pediatric intensive care unit (ICU), and to assess the incidence of the clinical triad (Turner's triad) of central diabetes insipidus, low glucose demand, and low CO2 production. DESIGN: Retrospective review of medical records. SETTING: Two multidisciplinary pediatric ICUs. PATIENTS: Medical records of pediatric patients declared brain dead and admitted to two multidisciplinary pediatric ICUs. MEASUREMENTS AND MAIN RESULTS: Patient records were reviewed for demographic data, primary diagnosis, severity of illness (Pediatric Risk of Mortality score and calculated risk of mortality), methods by which brain-death diagnosis was determined, presence of central diabetes insipidus, low glucose demand, low CO2 production in the final 24 hrs before the diagnosis was made, and whether organ donation was accomplished. The incidence of brain death among all patients admitted to the pediatric ICUs was 0.9%, accounting for 11% of patients who died during the same period. The most common presentation leading to brain-death diagnoses was trauma, followed by drowning/near drowning, and meningitis. The majority of brain-death diagnoses were made using both clinical criteria and confirmatory tests (66%). The incidence of clinical signs of Turner's triad was 41% for central diabetes insipidus, 49% for low glucose demand, and 53% for low CO2 production. Two of the three features were present in 38% of patients, and 12% of the patients had all three features. CONCLUSIONS: Our series of brain-dead patients in the pediatric ICU showed a 0.9% incidence of brain death. The most common primary diagnosis was trauma, a finding that is similar to other series. We also demonstrated that the clinical triad (Turner's triad) is present in this patient population, although only 12% of study patients demonstrated all three features.

Adolescent↗
PubMed1993

Urinary growth hormone measurements as a marker of renal tubular function in diabetes mellitus.

Urinary growth hormone (UGH) excretion was assessed in 44 adult subjects (10 control, 21 insulin dependent diabetics (Group I), 13 diabetics in poor glycaemic control (Group II)). UGH was markedly elevated in the diabetic population. The UGH excretion in (1) control subjects ranged from undetectable levels to 0.7 microU/h, mean 0.4, (2) Group I 73-422 microU/h, mean 250 and (3) Group II 10-5,283 microU/h, mean 705. There was a significant correlation between UGH excretion and albumin excretion rate (AER) (r = 0.38, P < 0.05) in the subjects studied although only 50% of patients had an AER of > 20 micrograms/min. A stronger correlation was observed between beta 2-microglobulin and UGH excretion (r = 0.7, P < 0.01). There was no significant change in the 6-h serum GH levels following treatment in the patients in Group II. However a 23-79% decline in UGH excretion was observed following improvement of glycaemic control, although UGH levels failed to revert to normal. We conclude that the major factor responsible for increased UGH excretion in DM appears to be reduced tubular reabsorption of the hormone. This test may therefore prove useful as an additional marker for screening for diabetic nephropathy and may help in the understanding of the contribution of renal tubular abnormalities to the nephropathic process.

Adult↗
PubMed1993

Cascade testing for carrier status in cystic fibrosis in a large family.

The offer to determine carrier status for cystic fibrosis (CF) was made to the 230 descendants of a couple who were presumed to carry the delta F508 mutation. "Cascade testing" was employed, in which the mutation is followed from the oldest generation down. Compliance was over 75% and family members were relieved of the anxiety engendered by uncertainty. In one couple considering having a family, both partners were found to be carriers.

Adolescent↗
PubMed1993

Patient-controlled extradural analgesia to compare bupivacaine, fentanyl and bupivacaine with fentanyl in the treatment of postoperative pain.

We have assessed the effect of combining extradural bupivacaine and fentanyl in 60 orthopaedic patients who received 0.125% bupivacaine (bupivacaine group), fentanyl 5 micrograms ml-1 (fentanyl group), or 0.125% bupivacaine combined with fentanyl 5 micrograms ml-1 (combined group), delivered by patient-controlled extradural analgesia for 24 h via a lumbar extradural catheter. Adding bupivacaine to fentanyl reduced mean (SD) fentanyl administration from 117 (46) ml to 89 (42) ml (P < 0.005). Adding fentanyl to bupivacaine reduced mean bupivacaine administration from 113 (46) ml to 89 (42) ml (P < 0.05). There was no significant difference between the groups in pain, nausea, motor block, pruritus or sedation. No patient had a ventilatory frequency less than 10 b.p.m. Hypotension (systolic AP < 100 mm Hg) occurred in two of 20 patients in the fentanyl group, compared with eight of 19 in the bupivacaine group and 10 of 21 in the combined group. The mean total volume of extradural solution administered was greater after knee replacement (126 (46) ml) than after hip replacement (84 (35) ml) (P < 0.001). The mean pain score was greater also for knee replacement (16 (10) mm) than for hip replacement (10 (9) mm) (P < 0.05). We conclude that extradural bupivacaine and fentanyl were additive in their analgesic actions, resulting in decreased requirements of each individual agent. Knee replacement was found also to be more painful than hip replacement after operation.

Adult↗
PubMed1993

HIV/AIDS education in further education: a survey.

This paper summarizes a report prepared for the Health Education Authority on the nature and extent of HIV/AIDS education in further education (FE) for the 16-19 age range. The results are based on a questionnaire survey of all the FE and tertiary colleges in England which was carried out by the authors in 1990. The main conclusion is that, although most colleges claim to be making some provision for HIV/AIDS education, such provision varies considerably, tends to be voluntary and, moreover, reaches very few students. Some factors do seem to enhance HIV/AIDS education, such as the appointment of a coordinator and the provision of in-service training, but many FE staff seem to question whether it is their role to provide education of such a non-specialist nature.

Acquired Immunodeficiency Syndrome↗
PubMed1993

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Although recent cytogenetic and molecular studies in patients with Turner stigmata are consistent with a gene(s) for Turner stigmata being present on both Xp and Yp, the precise location has not been determined. In this report, we describe a phenotypically female infant with Turner stigmata and a partial Yp deletion and review genotype-phenotype correlations of the putative Turner gene(s) in non-mosaic patients with Y chromosome rearrangements resulting from chromosomal breakage at Yp or Yc (pericentromeric region). The results indicate that the putative Turner gene(s) on Yp is located in the Y specific region from interval 1A1A to interval 2B. In addition, assessment of ZFX/ZFY and RPS4X/RPS4Y in the context of the Turner gene(s) suggests that ZFX/ZFY rather than RPS4X/RPS4Y could be a candidate gene for the Turner stigmata.

Chromosome Deletion↗
PubMed1993

Urinary growth hormone excretion as measured by a sensitive immunochemiluminometric assay.

A sensitive immunochemiluminometric assay with a detection limit of 1.1 microU/L was developed for the measurement of urinary growth hormone (UGH). The assay was shown to be specific and precise. There was a good correlation between serum growth hormone (GH) and UGH concentrations in 20 patients with acromegaly and six volunteers following an intravenous injection of recombinant GH. We concluded therefore that UGH measurements appear to provide a satisfactory index of GH secretion. The use of the assay in the investigation of growth disorders was assessed. We studied 11 pre-pubertal children, six of normal stature, and five of short stature, over a 6-month period. Sequential fortnightly measurements of UGH were carried out and height velocity was determined. The children of short stature grew at a slower rate and excreted less GH than the children of normal stature. However, we observed considerable within-individual variability in GH excretion in both groups (CV 22-98%). We therefore recommend that sequential UGH analyses should be carried out and the results interpreted in conjunction with growth measurements. However, further investigations into the renal handling of GH are needed to establish optimum sampling regimes.

Acromegaly↗
PubMed1993

Urinary growth hormone measurements in children with renal insufficiency.

It has been reported that intrinsic renal factors could affect urinary growth hormone (UGH) measurements. We compared UGH excretion in 21 children aged 4-16 years, with various degrees of renal insufficiency, with that in 10 control subjects aged 5-13 years. We found 100- to 1000-fold elevations in UGH in children with plasma creatinine concentrations > 120 mumol/L (Group A) compared with patients with plasma creatinine concentrations < 120 mumol/L (Group B) and control subjects. UGH excretion (microU) in the three groups was as follows: group A 804-8556 (median 2649); group B 1.0-85 (median 7.5); and controls 2.6-7.3 (median 4.0). Elevated urinary beta 2-microglobulin levels (microgram) were also observed in group A patients: 875-15,400 (median 11,637) as compared with group B, 1.0-104 (median 32) and controls, 3-18.7 (median 8.0). There was no significant difference in albumin excretion between groups A and B through six patients in group B with nephrotic syndrome (NS) excreted significantly more albumin (P < 0.05) than the other 15 patients investigated. Our data show that abnormalities of renal function have a profound effect on growth hormone excretion and we suggest proximal tubular dysfunction as the causative factor. We conclude that UGH measurements do not provide a reliable means of assessment of hypothalamo-pituitary function in patients with renal insufficiency.

Adolescent↗
PubMed1993

Theory of homelessness using Gibbs' paradigm.

An examination of homelessness is provided using Gibbs' paradigm as a guide. The author assesses national health objectives and health promotion and disease prevention for the homelessness population.

Health Promotion↗
PubMed1993

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.

We have conducted linkage analysis in 16 breast cancer families, 13 of which are classified as site-specific breast cancer families and 3 of which are classified as breast-ovary families. Linkage analysis has largely focused on a single extended breast-ovary family. Analysis of all families combined shows significant evidence for linkage to 17q (LOD = 3.63 at theta = .0, for linkage to NME1), confirming the observations of Hall et al. and Narod et al. Many families were consistent with linkage, but their limited size and informativeness precluded confirmation of linkage. A putative recombinant in a breast-ovary family suggests that BRCA1 is distal to D17S250.

Adult↗
PubMed1992

L-lysine repression of penicillin biosynthesis and the expression of penicillin biosynthesis genes acvA and ipnA in Aspergillus nidulans.

The addition of 0.1 M L-lysine to the fermentation medium reduced the production of penicillin by about 50% in Aspergillus nidulans. To analyse this effect at the molecular level, the expression of the penicillin biosynthesis genes acvA and ipnA, encoding delta-(L-alpha-aminoadipyl)-L-cysteinyl-D-valine synthetase and isopenicillin N synthetase, was studied by using translational fusions with different reporter genes (strain AXB4A, acvA-uidA, ipnA-lacZ fusions; AXB4B, acvA-lacZ, ipnA-uidA fusions) integrated in single copy at the chromosomal argB locus of Aspergillus nidulans. Irrespective of the reporter genes used the expression of acvA and ipnA fusion genes was repressed in L-lysine grown cultures. The expression of a fusion gene of an A. nidulans primary metabolism gene (oliC-lacZ) was not affected by L-lysine.

2-Aminoadipic Acid↗
PubMed1992

Kinetic studies of the polygalacturonase enzyme from Colletotrichum lindemuthianum.

The intrinsic protein fluorescence of the polygalacturonase from Colletotrichium lindemuthianum was exploited in stopped-flow experiments aimed at elucidating the kinetic mechanism for this enzyme. Binding of the polymeric substrate polygalacturonic acid (PGA) essentially produced a triphasic fluorescence profile. There was an initial rapid quench in fluorescence, consistent with the rapid formation of the enzyme-substrate complex, with an equilibrium constant of about 8 x 10(-4)% (w/v) PGA (about 0.27 microM). There then followed a near-constant fluorescence phase, attributable to turnover of the enzyme-substrate complex as a steady-state intermediate. As the concentration of the steady-state intermediate became depleted, towards the end of the reaction, there was a partial return of the fluorescence intensity. This phase is attributed to a final, single turnover of the enzyme at the end of the reaction. The fluorescence intensity does not return to its original level due to product remaining bound at the end of the reaction.

Kinetics↗
PubMed1992

Population screening for fragile X.

A screening programme to detect fragile X syndrome has been operating in New South Wales, Australia, since 1984. The aim of this programme is to find previously unidentified individuals with the syndrome so that their extended families can be properly informed of the risks before making decisions about childbearing. 14,225 individuals attending adult and child facilities for the intellectually handicapped have been screened, of whom 8172 have been offered testing for the fragile X syndrome with a 79% uptake of the service. 253 probands were found, and in the extended families 818 females at 25-100% risk of being carriers were interviewed and counselled. Continuing contact was maintained and prenatal diagnosis was offered. The effect of the programme was assessed in a subgroup of 90 individuals, most of whom were appreciative of the service and felt that they had been adequately informed. The influence of knowing the diagnosis and its genetic implications were also assessed, the main consequences being a 26% reduction in births and a 61% uptake of prenatal diagnosis. Improved techniques for diagnosis of fragile X have benefited the families identified and counselled, suggesting that systematic screening for fragile X should be an essential component of community genetic services.

Adolescent↗
PubMed1992

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia.

The authors describe a family with two children with microcephaly and normal intelligence, in which acute lymphoblastic leukemia developed in one of the siblings. An autosomal recessive pattern of inheritance is suggested by the pedigree. This is consistent with the literature, which the authors reviewed. All of the patients have similar phenotypic features, with some demonstrating chromosomal instability. It is important to recognize this syndrome because of the increased risk of lymphoreticular malignancy.

Child↗
PubMed1992

Characterization of the glyoxysomal isocitrate lyase genes of Aspergillus nidulans (acuD) and Neurospora crassa (acu-3).

The nucleotide sequences of the genes encoding the acetate-inducible glyoxylate cycle enzyme isocitrate lyase from the ascomycete fungi Aspergillus nidulans (acuD) and Neurospora crassa (acu-3) are presented. The respective A. nidulans and N. crassa genes are interrupted at identical positions by two introns and encode proteins of 538 and 543 amino acids, which have 75% identity. The predicted protein sequences do not demonstrate the C-terminal tripeptide S-K-L that has been implicated in peroxisomal targeting and found in the glyoxysomally located enzyme malate synthase from the same species. However, the protein sequences do exhibit a partial repeat which, in common with malate synthase, is located in regions that are absent from, or non-homologous with, the E. coli enzyme, which is not compartmentalized.

Amino Acid Sequence↗