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N Carey

Publications and source records attributed to N Carey.

12 recordsLinked to original sources
PubMed1995

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.

Myotonic dystrophy (DM) is associated with an underlying CTG trinucleotide repeat expansion at a locus on chromosome 19q13.3. We have determined the repeat length in 23 DM patients with varying clinical severity of symptoms and various sizes of repeat amplification. We confirm that as in previous studies there is no strong correlation between repeat length and clinical symptoms but find that the repeat length in peripheral blood cells of patients increases over a time span of five years indicating continuing mitotic instability of the repeat throughout life. Repeat length progression does not appear to be indicative of clinical progression but age probably is. The degree of expansion correlates with the initial repeat size and 50% of the patients with continuing expansions showed clinical progression of their disease symptoms over the five year study period.

Adolescent↗
PubMed1995

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 controls using the polymerase chain reaction (PCR) and a refined Southern protocol. In the majority of the cases molecular analysis confirmed the clinical diagnosis. These included seven cases of congenital DM (CDM) with widely differing gene expansions and instabilities. In most DM families the expanded fragment became larger in successive generations, but we also identified four families with contractions and two families that showed stability of the enlarged fragment during transmission. In four clinically defined DM patients we were unable to detect enlarged CTG repeats. Sequencing of each exon of the DM gene in two of these patients failed to show any mutations. Our cases have important implications for genetic counselling of DM families, highlighting both the diagnostic value of direct genomic analysis and its limitations.

Adult↗
PubMed1993

Use of recombinant gp135 to study epitope-specific antibody responses to maedi visna virus.

The envelope glycoprotein gp135 of the ovine lentivirus maedi visna virus (MVV) is the main target for neutralising antibody in vivo, however little is known about the specific regions of gp135 which elicit this neutralising response. We have used the polymerase chain reaction (PCR) to generate overlapping fragments of the gp135 gene which have been expressed as fusion proteins in the yeast Ty-VLP system. These fusion proteins have been used to analyse the antibody response to gp135 in MVV infected sheep and we are able to identify at least three distinct regions of gp135 to which antibodies are directed. The approach described in this paper provides a rapid and simple method of generating overlapping fusion proteins with which to carry out epitope mapping studies.

Animals↗
PubMed1991

Making things worse.

Explore the source record for details and available documents.

Acquired Immunodeficiency Syndrome↗
PubMed1990

Do you feel powerless when a patient refuses medication?

1. Because a client legally has the right to refuse medication, the nurse can only recommend, advise, suggest, or urge the patient to comply. Consequently, it is important to understand the nurse's response to patient refusal of medication. 2. Overall, nurses were more apt to identify with indirect indicators than they were to identify words that address the concept directly (control and powerlessness). 3. The most common hazard identified in a medication refusal event was the potential for injury, and the individuals most at risk were the nurse giving the medication and other personnel on the unit. 4. The most prominent nursing response to medication refusal was counseling. Nearly all the nurse subjects believed that the medication refusal event negatively influenced nursing care, the patient/nurse interaction, and patient teaching.

Adult↗
PubMed1982

A candidate reference method for uric acid in serum. II. Interlaboratory testing.

We describe the interlaboratory testing of a candidate Reference Method (Part I) for uric acid in serum. The method is based on the ultrasound spectrophotometric quantitation of uric acid before and after incubation with uricase. A comprehensive investigation involving 12 laboratories was organized to document the transferability, intra- and interlaboratory precision, and general reliability of the candidate Reference Method. The interlaboratory CV with this method was about 2 to 6% for uric acid concentrations ranging from 0.12 to 0.60 mmol/L. The results detailed here demonstrate that the method can be successfully duplicated among different laboratories.

Evaluation Studies as Topic↗
PubMed1980

The construction and characterisation of plasmid vectors suitable for the expression of all DNA phases under the control of the E. coli tryptophan promoter.

A DNA fragment flanked in the E. coli genome by Hinf I sites and containing the E. coli tryptophan promoter-operator and nucleotides specifying the leader sequence and first seven amino acids of trp E, has been cloned in the Hind III site of pBR322 with the aid of Hind III linkers. The Hind III site upstream from the trp promoter in the transcriptional sense was deleted to generate a Hind III cloning vector, designated pWT111, suitable for the expression of cloned DNA sequences as fusion products. Derivatives of this plasmid were constructed, designated pWT121 and pWT131, whose Hind III cloning sites differ with respect to their translation phasing relative to the initiator ATG of the trp E gene. Both pWT121 and pWT131 have a higher copy number per cell than pWT111. The tetracycline genes of all three plasmids are under trp promoter control and could be used to monitor the transcription of foreign genes inserted at the Hind III site of the vectors.

Cloning, Molecular↗
PubMed1980

Complete structure of the hemagglutinin gene from the human influenza A/Victoria/3/75 (H3N2) strain as determined from cloned DNA.

The complete sequence of a hemagglutinin (HA) gene of a recent human influenza A strain, A/Victoria/3/75, is 1768 nucleotides long and contains the information for 567 amino acids. It codes for a signal peptide of 16 amino acids, the HA1 chain of the mature hemagglutinin of 329 amino acids, a connecting region between HA1 and HA2 consisting of a single arginine residue and the HA2 portion of 221 amiino acids. The sequence is compared with the hemagglutinin of two members of other subtypes, the human H2 strain A/Jap/305/57 and the avian Hav1 strain A/FPV/Rostock/34, and with one of the same H3 subtype, A/Memphis/3/72. To align the HA1 chain of different major subtypes several deletions/insertions of single amino acids must be invoked, but two more extensive differences are found at both ends, one leading to an extension of the amino terminal sequence of HA1 and the other (four residues) occurring in the region processed away between HA1 and HA2. Comparison of the HA1 of two H3 strains suggests that drift probably depends on single base mutations, some of which change antigenic determinants. The HA2 region, which apparently is not involved in the immune response, is highly conserved even between different subtypes, and single base substitutions account for all the observed diversity. A hydrophobic segment of 24 residues is present in the same position close to the carboxyl terminus of HA2 in both Victoria and FPV, and presumably functions in implantation into the lipid bilayer. The many conserved features not only in HA2 but also in HA1 suggest a rather rigid architecture for the whole hemagglutinin molecule.

Amino Acid Sequence↗