Biomedical subjects

D Solowiejczyk

Publications and source records attributed to D Solowiejczyk.

4 recordsLinked to original sources

PubMed1996

Quantitative three dimensional echocardiography in patients with pulmonary hypertension and compressed left ventricles: comparison with cross sectional echocardiography and magnetic resonance imaging.

OBJECTIVE: To evaluate the accuracy of quantitative three dimensional echocardiography in patients with deformed left ventricles. DESIGN: Three dimensional and cross sectional echocardiographic estimates of left ventricular volume and ejection fraction were prospectively compared to those obtained from magnetic resonance imaging. SETTING: Echocardiography laboratory of a university hospital. PATIENTS: 26 patients (9 months to 42 years, median age 11 years) with pulmonary hypertension and fixed reversal of normal interventricular septal curvature. MAIN OUTCOME MEASURES: Left ventricular end diastolic and end systolic volumes and ejection fraction. RESULTS: Three dimensional echocardiographic comparison to magnetic resonance imaging (MRI) yielded r values of 0.94 and 0.87 with a bias of -6.9 (SD 6.9) ml and -16 (11.2) ml for systolic and diastolic volumes respectively. Inter-observer variability was minimal (8.3% and 7.6% respectively). Cross sectional echocardiography gave correlation coefficients of 0.62 and 0.80 and bias of 3.1 (14.1) ml and 16.3 (18.3) ml for systolic and diastolic volumes respectively. Ejection fraction by three dimensional echocardiography also had closer agreement with MRI (bias = 1.1 (7.7)%) than cross sectional echocardiography (bias = 4.4 (13.9)%). CONCLUSIONS: Three dimensional echocardiography provides reliable estimates of left ventricular volumes and ejection fraction, comparable to magnetic resonance imaging in pulmonary hypertension patients with compressed ventricular geometry. Because it eliminates the need for geometric assumptions it shows closer agreement with magnetic resonance imaging in that setting than cross sectional echocardiography.

Adolescent↗

PubMed1982

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.

We recently described a "non-random" sequencing procedure for DNA inserts in bacteriophage M13 using Bal 3 nuclease and the dideoxy chain termination method (Poncz, M., Solowiejczyk, D., Ballantine, M., Schwartz, E., and Surrey, S. (1982) Proc. Natl. Acad. Sci. U. S. A., in press). Using this procedure, we have determined the nucleotide sequence of a cloned human beta-globin gene from a Kurdish Jew with beta +-thalassemia major. Comparison with the previously reported human beta-globin gene sequences (1-3) reveals a change in the "T-A-T-A" box. This region 5' to the capping site was previously demonstrated to be critical for the proper transcription in vitro of several different eukaryotic genes (4-7). This is the first report of a T-A-T-A box modification found in association with a spontaneously occurring human genetic disorder. In addition to this mutation, other base changes, an insertion, and a deletion in the cloned gene were found in the 5' and 3' flanking regions.

Base Sequence↗

PubMed1982

"Nonrandom" DNA sequence analysis in bacteriophage M13 by the dideoxy chain-termination method.

We describe a rapid "nonrandom" DNA sequence analysis procedure that facilitates the nucleotide sequence determination of large contiguous regions of DNA. The method consists of cloning a restriction endonuclease fragment of interest into bacteriophage M13 followed by construction of a series of nuclease BAL-31 deletion mutants originating from a single site in M13 that is close to the DNA insert. Determination of the size of the deletion mutant is accomplished by hybridization to a complementary single-stranded probe derived from M13 containing that total insert followed by nuclease S1 treatment. Single-stranded M13-insert DNAs of progressively smaller sizes are isolated and analyzed by using a site-specific M13 DNA primer and the dideoxy chain-termination method. In this way, analysis of the DNA sequence proceeds from one end of the total insert to the other in a nonrandom fashion due to generation of a controlled overlapping set of deletion mutants.

Base Sequence↗

PubMed1982

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes.

We describe a rapid procedure for constructing cloned human genomic libraries from small amounts of peripheral blood. High molecular weight DNA is isolated from 5-20 ml peripheral blood, partially cleaved with Eco R1, and 8-22 kb fragments are cloned using bacteriophage Charon 4A and suitable E. coli host. Using the approach we have isolated and characterized several non-alpha globin clones from a Kurdish Jew with homozygous beta thalassemia. The ability to isolate suitable amounts of high molecular weight DNA from peripheral blood provides a relatively simple means of constructing human gene libraries representing a variety of hemoglobin disorders.

Base Sequence↗