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J Abruzzo

Publications and source records attributed to J Abruzzo.

3 recordsLinked to original sources
PubMed2001

Collection of genomic DNA from adults in epidemiological studies by buccal cytobrush and mouthwash.

Blood samples are an excellent source of large amounts of genomic DNA. However, alternative sources are often needed in epidemiological studies because of difficulties in obtaining blood samples. This report evaluates the buccal cytobrush and alcohol-containing mouthwash protocols for collecting DNA by mail. Several DNA extraction techniques are also evaluated. The study was conducted in two phases. In phase 1, we compared cytobrush and mouthwash samples collected by mail in two different epidemiological studies: (a) cytobrush samples (n = 120) from a United States case-control study of breast cancer; and (b) mouthwash samples (n = 40) from a prospective cohort of male United States farmers. Findings from phase 1 were confirmed in phase 2, where we randomized cytobrush (n = 28) and mouthwash (n = 25) samples among participants in the breast cancer study to directly compare both collection methods. The median human DNA yield determined by hybridization with a human DNA probe from phenol-chloroform extracts was 1.0 and 1.6 microg/2 brushes for phases 1 and 2, respectively, and 27.5 and 16.6 microg/mouthwash sample for phases 1 and 2, respectively. Most (94-100%) mouthwash extracts contained high molecular weight DNA (>23 kb), in contrast to 55-61% of the brush extracts. PCR success rates for amplification of beta-globin gene fragments (268, 536, and 989 bp) were similar for cytobrush and mouthwash phenol-chloroform extracts (range, 94.4-100%). Also, we obtained high success rates in determining the number of CAG repeats in the androgen receptor gene, characterizing tetranucleotide microsatellites in six gene loci, and screening for mutations in the BRCA1/2 genes in a subset of phenol-chloroform DNA extracts. Relative to DNA extracted by phenol-chloroform from cytobrush samples, DNA extracted by NaOH had lower molecular weight, decreased PCR success rates for most assays performed, and unreliably high spectrophotometer readings for DNA yields. In conclusion, although DNA isolated from either mouthwash or cytobrush samples collected by mail from adults is adequate for a wide range of PCR-based assays, a single mouthwash sample provides substantially larger amounts and higher molecular weight DNA than two cytobrush samples.

Adult↗
PubMed1998

Assessment of small-diameter aortic mechanical prostheses: physiological relevance of the Doppler gradient, utility of flow augmentation, and limitations of orifice area estimation.

BACKGROUND: Noninvasive assessment of functionally stenotic small-diameter aortic mechanical prostheses is complicated by theoretical constraints relating to the hemodynamic relevance of Doppler-derived transprosthetic gradients. To establish the utility of Doppler echocardiography for evaluation of these valves, 20-mm Medtronic Hall and 19-mm St Jude prostheses were studied in vitro and in vivo. METHODS AND RESULTS: Relations between the orifice transprosthetic gradient (equivalent to Doppler), the downstream gradient in the zone of recovered pressure (equivalent to catheter), and fluid mechanical energy losses were examined in vitro. Pressure-flow relations across the 2 prostheses were evaluated by Doppler echocardiography in vivo. For both types of prosthesis in vitro, the orifice was higher than the downstream gradient (P<0.001), and fluid mechanical energy losses were as strongly correlated with orifice as with downstream pressure gradients (r2=0.99 for both). Orifice and downstream gradients were higher and fluid mechanical energy losses were larger for the St Jude than the Medtronic Hall valve (all P<0.001). Whereas estimated effective orifice areas for the 2 valves in vivo were not significantly different, model-independent dynamic analysis of pressure-flow relations revealed higher gradients for the St Jude than the Medtronic Hall valve at a given flow rate (P<0.05). CONCLUSIONS: Even in the presence of significant pressure recovery, the Doppler-derived gradient across small-diameter aortic mechanical prostheses does have hemodynamic relevance insofar as it reflects myocardial energy expenditure. Small differences in function between stenotic aortic mechanical prostheses, undetectable by conventional orifice area estimations, can be identified by dynamic Doppler echocardiographic analysis of pressure-flow relations.

Aortic Valve Stenosis↗