Ten to fifteen percent of CF chromosomes carry mutations which are not detected by routine screening of the CFTR gene for known mutations. Many techniques have been used to screen the CFTR gene for ...these remaining mutations. Most of the methods use genomic DNA, and since the CFTR gene contains 27 exons, are necessarily labour intensive. We have screened the entire coding region of CFTR, by chemical cleavage of 7 overlapping segments of amplified cDNA. Using this method we have identified 4 sequence changes which had not been detected by screening genomic DNA, and successfully detected 10 out of 13 known mutations. In addition, we have identified 8 alternatively spliced forms of CFTR mRNA, 4 of which have not been described previously. These include transcripts lacking a) exon 3, b) exons 2 + 3, c) exons 9 + 12, and d) the final 357 bp of exon 15 as a result of use of the cryptic splice donor site CA2863/GTTCGT).
This study investigated the prevalence of dental fluorosis and caries in 7-14-year-old children residing in communities with negligible (NF: 0.2 ppm), optimal (OPF: 1.0 ppm), and four-times optimal ...(4X OPF: 4.0 ppm) naturally occurring fluoride in their water systems.
Examinations were performed on 344 children who were lifetime residents of their communities.
Whether using the tooth surface index of fluorosis or Dean's index, children examined in the 4X OPF community had the highest prevalence of dental fluorosis. While the severity of fluorosis seen in the OPF and NF communities was mild in appearance, the results indicate that fluorosis does occur in optimally and negligibly fluoridated communities. Compared to the NF community, DMFT and DMFS scores in the OPF community were 9.2 percent and 21.2 percent lower, respectively.
The ingestion of water containing 1 ppm or less fluoride during the time of tooth development may result in dental fluorosis, albeit in its milder forms. However, in these times of numerous products containing fluoride being available, children ingesting water containing 1 ppm fluoride continue to derive caries protection compared to children ingesting water with negligible amounts of fluoride. Thus, the potential for developing a relatively minor unesthetic condition must be weighed against the potential for reducing dental disease.
Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an ...extensive mutation search. The whole of the coding region of the CFTR gene, all intron-exon boundaries and 5' and 3' untranslated regions have been examined by a combination of single stranded conformational polymorphism analysis and chemical mismatch detection; 48 chromosomes with rare mutations have been identified, including 7 novel mutations, 182delT in exon 1, G27X in exon 2, Q151X in exon 4, Q220X in exon 6a, Q525X in exon 10, 3041delG in exon 16, and 4271delC in exon 23.
This annual report, the third in the series, documents trends in immunisation coverage in NSW for children, adolescents and the elderly, to the end of 2011. Methods: Data from the Australian ...Childhood Immunisation Register, the NSW School Immunisation Program and the NSW Population Health Survey were used to calculate various measures of population coverage. Results: During 2011, greater than 90% coverage was maintained for children at 12 and 24 months of age. For children at 5 years of age the improvement seen in 2010 was sustained, with coverage at or near 90%. For adolescents, there was improved coverage for all doses of human papillomavirus vaccine, both doses of hepatitis B vaccine, varicella vaccine and the dose of diphtheria, tetanus and acellular pertussis given to school attendees in Years 7 and 10. Pneumococcal vaccination coverage in the elderly has been steadily rising, although it has remained lower than the influenza coverage estimates. Conclusion: This report provides trends in immunisation coverage in NSW across the age spectrum. The inclusion of coverage estimates for the pneumococcal conjugate, varicella and meningococcal C vaccines in the official coverage assessments for 'fully immunised' in 2013 is a welcome initiative. Adapted from the source document.
This annual report, the second in the series, documents trends in immunisation coverage in NSW for children, adolescents and the elderly, to the end of 2010. Methods: Data from the Australian ...Childhood Immunisation Register, the NSW School Immunisation Program and the NSW Population Health Survey were used to calculate various measures of population coverage, coverage for Aboriginal children and vaccination timeliness for all children. Results: Over 90% coverage has been reached for children at 12 and 24 months of age. For children at 5 years of age there was an improvement during 2010 in timeliness for vaccines due at 4 years and coverage almost reached 90%. Delayed receipt of vaccines is still an issue for Aboriginal children. For adolescents, there is good coverage for the first and second doses of human papillomavirus vaccine and the dose of diphtheria, tetanus and acellular pertussis. The pneumococcal vaccination rate in the elderly has been steadily rising, although it has remained lower than the influenza coverage estimates. Conclusion: Completion of the recommended immunisation schedule at the earliest appropriate age should be the next public health goal at both the state and local health district level. Official coverage assessments for 'fully immunised' should include the 7-valent pneumococcal conjugate and meningococcal C vaccines, and wider dissemination should be considered. Adapted from the source document.
NSW Annual Immunisation Coverage Report, 2009 Hull, Brynley; Dey, Aditi; Mahajan, Deepika ...
N S W public health bulletin,
2010 Sep-Oct, Letnik:
21, Številka:
9-10
Journal Article
Odprti dostop
This is the first in a series of annual immunisation coverage reports that document trends in NSW for a range of standard measures derived from Australian Childhood Immunisation Register data, ...including overall coverage at standard age milestones and for individual vaccines. This report includes data up to and including 2009.
Data from the Australian Childhood Immunisation Register, the NSW Health Survey and the NSW School Immunisation Program were used to calculate various measures of population coverage relating to childhood vaccines, adult influenza and pneumococcal vaccines and adolescent vaccination, respectively.
Immunise Australia Program targets have been reached for children at 12 and 24 months of age but not for children at 5 years of age. Delayed receipt of vaccines is an issue for vaccines recommended for Aboriginal children. Pneumococcal vaccination in the elderly has been steadily rising, although it has remained lower than the influenza coverage estimates. For adolescents, there is better coverage for the first and second doses of human papillomavirus vaccine and the dose of dTpa than for varicella.
This comprehensive analysis provides important baseline data for NSW against which future reports can be compared to monitor progress in improving immunisation coverage. Immunisation at the earliest appropriate age should be a public health goal for countries such as Australia where high levels of vaccine coverage at milestone ages have been achieved.
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