Identification of patients with atrial fibrillation in UK community pharmacy: an evaluation of a new service.

Background Many patients with atrial fibrillation (AF) are asymptomatic and diagnosed via opportunistic screening. Community pharmacy has been advocated as a potential resource for opportunistic screening and lifestyle interventions. Objective The objective of this evaluation is to describe the outcomes from an AF service, in terms of referrals and interventions provided to patients identified as not at risk. Methods Eligibility was assessed from pharmacy records and the completion of a short questionnaire. Once consented, patients were screened for AF and their blood pressure was measured. Results Of 594 patients screened, nine were identified as at risk of having AF and were referred to their GP. The service also identified 109 patients with undiagnosed hypertension, 176 patients with a Body Mass Index >30, 131 with an Audit-C score >5 and 59 smokers. Pharmacists provided 413 interventions in 326 patients aimed at weight reduction (239), alcohol consumption (123) and smoking cessation (51). Conclusion This evaluation characterises the interventions provided to, not only those identified with the target condition-in this case AF-but also those without it. The true outcome of these additional interventions, along with appropriate follow-up, should be the focus of future studies.

Mosaicism with a normal cell line and an autosomal structural rearrangement.

Over three decades, 12 cases of mosaicism for an autosomal rearrangement were recognised in the major cytogenetics laboratories in New Zealand, eight of which were studied between 1990 and 1992. One case inferentially involved the gonad, eight the soma, and three both gonad and soma. This mosaicism could have arisen as a postzygotic event either in a conceptus that was initially normal, with the generation of an abnormal cell line, or in a conceptus having a supernumerary chromosome which was lost at a subsequent mitosis, thereby restoring a normal cell line. Three of the 12 cases involved a presumed direct duplication, an otherwise very uncommon rearrangement. This may indicate a propensity for direct duplications to arise at mitosis rather than at meiosis; unequal sister chromatid exchange is a plausible mechanism. Mosaicism has clinical relevance for genetic counselling, as an intragonadal cell line carrying a rearrangement could generate multiple unbalanced gametes. Mosaicism for an autosomal rearrangement my be very much more common that is, or ever could be, recognised.

Genetic characterization of the mei-41 locus in Drosophila melanogaster.

The mutagen-sensitive mutant mus(1) 104D1 of Drosophila melanogaster maps to a position on the X chromosome very close to the meiotic mutant mei-41D5. Both mutants have been characterized as mutagen-sensitive and defective in post-replication repair. In the present report we show by complementation studies that mus(1) 104 and mus(1) 103 are allelic with mei-41. In addition, two reported alleles of mus(1) 104 lie between the mei-41 alleles A10 and D5. The size of the mei-41 locus is estimated to be about 0.1 centimorgans (cM). Because several alleles of mei-41 have been shown to reduce recombination and increase meiotic chromosome loss and nondisjunction, mus(1) 104D1 females were examined for defects in meiosis. Although there was no evidence for reduced recombination on the second chromosome in homozygous mus(1) 104D1 females, heterozygous mus(1) 104D1/mei-41D5 and mus(1) 104D1/deficiency females showed reduced levels of recombination. However, there was no evidence of an increase in nondisjunction in these females.

The location of a mutator factor in a strain of Drosophila melanogaster by assaying male recombination.

In a set of "mutation accumulation lines," of Drosophila melanogaster that had originated from two different wild-caught lethal-carrying second chromosomes (Yamaguchi and Mukai 1974; Mukai and Cockerham 1977; Voelker, Schaffer and Mukai 1980) a correlation exists between high rates of reverse mutation at two visible loci and the ability to induce male recombination (Scobie and Schaffer 1982). The second and third chromosomes were extracted from the lines demonstrating these phenomena and tested for independent ability to induce male recombination. When the wild chromosome being tested was of male origin extracted second chromosome lines were found to induce moderate to high levels of male recombination and reduced transmission frequency of the wild chromosome (the k value). The recombinants recovered in these crosses also demonstrated a high level of double-crossover recombination without the recovery of the reciprocal double-recombinant types. In addition, identifiable portions of extracted second chromosomes of male origin have been placed on very similar, marked genetic backgrounds and tested for their ability to induce male recombination. Results of this procedure have identified two regions of the second chromosome that induce male recombination and reduce k values. These results are consistent with the hypothesis that there exist two mutator factors and the second chromosome, each associated with a "mutation accumulation line" with an unstable locus.

A mutator factor in a strain of Drosophila melanogaster: identified by use of mutation, reversion rates and male recombination.

A set of 1,000 "mutation accumulation" lines Drosophila melanogaster, which originated from two different wild-type, lethal-bearing second chromosomes (Yamaguchi and Mukai 1974; Mukai and Cockerham 1977), was examined for evidence of a mutator factor by using the occurrence of recessive visible mutations and male recombination to identify its presence. The 1,000 lines were screened at approximately generation 240 for the presence of recessive visible mutation at twelve loci, by outcrossing to a balanced multiply marked second chromosome stock (Muller's "12ple" Bowling Green). Twenty-three lines were found to carry a visible mutation at one of the vg locus. mutations found in three lines, two at the dp locus and one at the vg locus, demonstrated instability as revertants to the wild type and were recovered and verified in these three cases. The three revertant lines, and three lines showing no reversion, were tested for their ability to induce male recombination. Male recombination was observed in the three lines in which revertants were recovered. Male and female sterility assays indicated conclusively that these "hybrid dysgenic" characteristics could not be used to identify lines potentially carrying mutator factors, whereas the consistent ability of the lines to induce high rates of reversion and male recombination was successful in determining that the "mutation accumulation lines" do possess mutator factors.