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Biomedical subjects

T L Burns

Publications and source records attributed to T L Burns.

At least 19 recordsLinked to original sources
PubMed2000

Reproducibility of left ventricular measurements with acoustic quantification: the influence of training.

Acoustic quantification (AQ) of two-dimensional (2-D) echocardiograms provides online estimation of left ventricular (LV) size and function. However, edge detection with AQ is influenced by gain settings and is therefore operator dependent. Our purpose was to compare AQ and conventional 2-D echo measurements of LV size and function obtained by different operators and to evaluate the influence of training on these measurements. A cardiac sonographer without previous experience with the AQ system was trained by an experienced operator. Twenty-two normal males (age, 28 +/- 4 years) participated in the study. Images were recorded with conventional 2-D and AQ echo from the short-axis and apical four-chamber views. During the initial training period, five subjects were imaged by the sonographer under the supervision of the trainer. At the initial study session, 12 subjects were imaged independently by the two operators. Following a second training period with five different subjects, the same initial 12 subjects were again imaged at a second study session. LV cavity areas were traced from the conventional 2-D echocardiograms and measured from the AQ waveforms at end-diastole and end-systole. Volumes were calculated using the single-plane area-length method. Ejection fraction (EF) was calculated from volumes. Reproducibility was determined by comparing the variability of AQ and conventional 2-D echo measurements obtained at the two sessions. A second training session reduced the operator variability only of the short-axis end-diastolic area measurement (17 +/- 11% vs 6 +/- 5%, P < 0.025). We conclude that a single training session may be adequate for the reproducible estimation of ventricular volumes with the AQ method.

Adult↗
PubMed1999

Osteocalcin: genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis.

Osteocalcin is an abundant, highly conserved bone-specific protein that is synthesized by osteoblasts. Temporally, osteocalcin appears in embryonic bone at the time of mineral deposition, where it binds to hydroxyapatite in a calcium-dependent manner. A role for osteocalcin in bone resorption has been suggested because of its ability to influence recruitment and differentiation of osteoclasts at the bone surface. The human osteocalcin gene has been mapped to 1q25-1q31 by somatic cell hybridization. In this paper, we refine both the genetic map and the physical map of osteocalcin and describe a new microsatellite (CA) marker, D1S3737, which is tightly linked to the gene. This marker and two other closely linked markers were used to identify alleles of the osteocalcin gene in case and control samples of postmenopausal white Iowans with low and high bone mineral density (BMD), respectively. A significant difference (P = 0.007) was observed between allele frequency distributions of case and control women with one of the markers, D1S3737. Further, logistic regression analysis determined one allele of D1S3737 as associated with BMD status in this population (P = 0.03). Our data suggest that genetic variation at the osteocalcin locus impacts BMD levels in the postmenopausal period and may predispose some women to osteoporosis.

Aged↗
PubMed1999

Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts.

Previous studies suggest that the relationship between genes and nonsyndromic cleft lip +/- cleft palate (CLP) or cleft palate only (CP) may be modified by the environment. Using data from a population-based case-control study, we examined allelic variants for three genes, i.e., transforming growth factor alpha (TGFA), transforming growth factor beta 3 (TGFB3), and Msh (Drosophila) homeobox homolog 1 (MSX1), and their interactions with two exposures during pregnancy (maternal cigarette smoking and alcohol consumption) as risk factors for CLP and CP. For each cleft phenotype, risk estimates associated with most allelic variants tended to be near unity. Risk estimates for maternal smoking (> or = 10 cigarettes/day) were significantly elevated for CP and were most elevated among infants with allelic variants at the TGFB3 or MSX1 sites. By comparison, risk estimates for maternal alcohol consumption (> or = 4 drinks/month) were significantly elevated for CLP and were most elevated among infants with allelic variants at the MSX1 site. Our results suggest that development of CLP and CP may be influenced independently by maternal exposures but more significantly by interaction of such exposures and specific allelic variants.

Alcohol Drinking↗
PubMed1999

Regression diagnostics for the class A regressive model with quantitative phenotypes.

Regression diagnostic methods are developed and investigated under the Class A regressive model proposed by Bonney [(1984) Am J Med Genet 18:731-749]. We call a family whose phenotypic distribution does not conform to the same genetic model as the majority of the families an etiotic family. The exact case-deletion approach for identifying etiotic families, based on examining the changes in each model parameter estimate by excluding one family at a time, is very time-consuming. We proposed three alternative diagnostic methods: the empirical influence function (EIF), the one-step approximation, and the approximated one-step approach. These methods can be computed efficiently and were incorporated into the existing software package S.A.G.E. A thorough Monte-Carlo investigation of the performance of the diagnostic methods was conducted and generally supports the EIF approach as the recommended alternative. The phenotypic variance is the parameter whose associated regression diagnostic most frequently and correctly identified etiotic families in the models that were examined. An analysis of body mass index data from 402 individuals in 122 Muscatine, Iowa families is used to illustrate the methods. A Class A regressive model with a recessive major locus and equal mother-offspring and father-offspring correlations provided the best-fitting model. The proposed regression diagnostics identified up to 7.4% of the 122 families as etiotic. As a result of this investigation, case-deletion diagnostic assessment is now a practical component in the analysis of quantitative family data.

Adolescent↗
PubMed1998

Asthma and allergic rhinitis in adoptees and their adoptive parents.

BACKGROUND: Since the highest risk for the development of atopic disease is in early life, environmental risk factors need to be separated from the genetic component in this high risk period. Adoptees removed at birth and placed in adoptive families present a way to separate environmental and genetic factors at this early susceptible age. METHOD: An opportunity for a pilot study of asthma and allergic rhinitis in adoptive families was presented when a psychiatrist (RC) was planning a behavioral study of young adult adoptees and their adoptive parents. A detailed questionnaire about allergic rhinitis and asthma was added after the psychiatrists' interview. Placement was not influenced by a history of allergy in adoptive or natural parents. The adoptee and at least one adoptive parent completed questionnaires in 367 families. The adoptees had been removed at birth and placed in the adoptive family within 3 months (83% within 1 month). RESULTS: Compared with adoptive families without asthma or allergic rhinitis, an adoptive mother with asthma or rhinitis, when the adoptive father was not affected, increased the risk for asthma in the adoptee (OR = 3.2, P < .0005). Asthma in the adoptive mother alone (OR = 3.2, P < .005) and allergic rhinitis alone (OR = 3.4, P < .005) increased the risk for asthma in the adoptee. Adoptive father asthma or allergic rhinitis showed a trend toward increased asthma in the adoptee (OR = 1.9, P < .1). CONCLUSION: This should be considered a pilot or feasibility study since subjects could not be examined or tested. Finding a risk for atopic respiratory disease or asthma associated with adoption by parents with asthma or allergic rhinitis suggests that further well planned adoptee studies should be made.

Adoption↗
PubMed1998

The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations.

The use of a comprehensive follow-up strategy to limit non-participation bias was evaluated in a population-based case-control study of orofacial clefts. Birth parents were requested to provide exposure data, and index children and parents were asked to provide blood specimens. Follow-up included telephone or postal reminders every two weeks for up to three months. Consent to participate was received from 281 (76.6%) case mothers and 246 (72.4%) case fathers. The corresponding totals for controls were 279 (54.7%) and 245 (49.8%). Evaluation of participation rates by intensity of follow-up showed that 23% of case and 18% of control families consented without reminders (first stage); 81% of cases and 83% of controls agreed following one or two reminders (second stage); and the remainder of participants consented following three or more reminders (final stage). Cumulative distributions of sociodemographic characteristics differed little between second and final stage participants. Odds ratios for maternal multivitamin use were similar between second and final stage participants, whereas those for maternal and paternal smoking tended to decline. Although follow-up measures were necessary to enroll most families, use of more than two reminders did not appear to increase the representativeness of the sample; however, termination of recruitment after only two reminders would have led to different conclusions. Future studies require data collection protocols that encourage participation from all population subgroups, and one alternative is presented.

Adult↗
PubMed1998

Longitudinal analysis of scaling VO2 for differences in body size during puberty: the Muscatine Study.

PURPOSE: The purpose of this study was to determine an appropriate method to "normalize" oxygen uptake (VO2) for body size in children and adolescents. METHODS: We examined allometric scaling factors for a cohort of 126 children (mean age at baseline = 10.3 yr) participating in a 5-yr follow-up study. Each year for 5 yr we measured peak VO2, submaximal VO2, body mass, height, body composition, and sexual maturation. We sorted the 5-yr data set by sexual maturation and gender and then used the generalized estimating equation method to estimate regression parameters that described the influence of log transformed body mass on log transformed VO2. All analyses were repeated using log transformed fat-free body mass (FFM) in lieu of log transformed body mass. RESULTS: Models using FFM appeared better at eliminating the effect of body size on VO2. In boys a univariate model with a FFM exponent of 0.91 and in girls a univariate model with a FFM exponent of 0.87 satisfactorily normalized peak VO2. However, we could not identify a common body size exponent for both boys and girls. CONCLUSIONS: Results support the use of allometric scaling of VO2 as a function of FFM for maturing boys and girls but indicate that the effects of maturation on the relationship between VO2 and body size differ between boys and girls.

Adolescent↗
PubMed1997

Maternal interview reports of family history of birth defects: evaluation from a population-based case-control study of orofacial clefts.

Accurate family histories of birth defects are critical for risk assessment and etiologic investigations. Typically, information about family history of birth defects is ascertained from interviews with birth mothers of index children; however, the quality of these interviews is rarely assessed. We evaluated family history information provided by case (n = 28) and control (n = 29) mothers who participated in a population-based, case-control study of orofacial clefts. Interview responses from mothers were compared to questionnaire reports collected by mail from first- and second-degree parental relatives. A total of 345 case and 380 control adult relatives completed questionnaires. These relatives also provided reports for 130 case and 169 control offspring. To examine the quality of birth defect reports, the sensitivity and specificity of birth mother responses were calculated. Sensitivity for presence (yes/no) of a birth defect was 31% for case mothers and 9% for control mothers. Specificity for case and control mothers was 98% and 97%, respectively. Interview responses from mothers who participate in family genealogy were more likely to be concordant with relative reports than were responses from mothers who do not participate in family genealogy. Case mother responses were more likely to be concordant than control mother responses. These results suggest that reliance on interview reports from birth mothers may lead to an underestimation of the occurrence of birth defects in relatives. Future investigations should explore methods to improve the quality of informant reports about family histories of birth defects. One alternative approach is discussed.

Case-Control Studies↗
PubMed1997

Evaluation of color kinesis, a new echocardiographic method for analyzing regional wall motion in patients with dilated left ventricles.

The recently developed echocardiographic technology of color kinesis (CK) displays endocardial motion in color layers on a single end-systolic 2-dimensional echocardiographic frame. Previous work using this method is promising for quantitation of regional function, but there is limited experience in patients with severely reduced left ventricular function. Twenty patients (age 59 +/- 10 years) with dilated cardiomyopathy (left ventricular ejection fraction 22 +/- 8%) underwent CK imaging. Endocardial motion was quantitated by measuring the distance of endocardial motion during the systolic interval and also by calculating the endocardial velocity. CK measurements were compared among 4 wall motion grades (i.e., normal, hypokinetic, akinetic, and dyskinetic) assessed by qualitative wall motion scoring. There was a significant overall difference (p < 0.0001) in the mean systolic endocardial inward motion (i.e., contraction) and outward motion (i.e., expansion) among wall motion grades. The mean endocardial outward distance was significantly greater for the dyskinetic segments than for the other grades (p < 0.001). There were also differences in the mean velocity of endocardial motion among the wall motion grades. In the presence of left bundle branch block, there was no difference in the mean endocardial inward distance of the hypokinetic, akinetic, and dyskinetic septal segments. We conclude that in the absence of left bundle branch block, normal, hypokinetic, akinetic, and dyskinetic ventricular wall segments may be distinguished in patients with dilated cardiomyopathy on the basis of endocardial motion measured with CK.

Bundle-Branch Block↗
PubMed1997

Successful program to prevent aspergillus infections in children undergoing marrow transplantation: use of nasal amphotericin.

Aspergillus infections in the pediatric bone marrow transplant (BMT) patients are usually fatal. We began the use of a prophylactic nasal spray of amphotericin in 1990. This nasal spray was provided in addition to low-dose intravenous amphotericin. During the time of this study, the number of fatal cases of aspergillus in the pediatric BMT population was reduced significantly from 13.8% to 1.8% (P < 0.0025) thereby suggesting that the use of nasal amphotericin in this population helps to prevent fatal aspergillus infections. The lack of significant side-effects and the ease of administration make this a very helpful preventive measure in the supportive care of pediatric bone marrow transplant patients.

Administration, Intranasal↗
PubMed1997

Determinants of bone mineral density in postmenopausal white Iowans.

BACKGROUND: Osteoporosis is a major health problem for older individuals. For women, development of osteoporosis is a function of the accretion of "peak" bone mass in the third decade, age at menopause, and rate of bone loss with aging. Low bone mineral density (BMD) is a major risk factor for osteoporosis and fracture. The purpose of this study was to identify life style, nutritional, medical, and genetic predictors of low BMD in postmenopausal Iowa women. METHODS: One hundred thirty-four postmenopausal White women ranging in age from 57 to 81 years were included in this case-control study. Bone mineral density was measured at the femoral neck, using dual photon X-ray absorptiometry (Hologic 2000 QDR). Sixty-six women with BMD measurements below 0.68 g/cm2 (the bottom quartile of the BMD distribution in the population from which participants were recruited), and 68 women with values at or above 0.83 g/cm2 (the top quartile of the BMD distribution in the same population) were included. Information about environmental, nutritional, medical, and life style modifiers of BMD was obtained by written questionnaire and telephone interview. To assess familial factors that might influence BMD, we obtained a detailed family history for each participant. In addition, we tested the hypothesis that allelic variation at the Vitamin D receptor (VDR), and the type I collagen gene (COL1A1 and COL1A2) loci influence BMD. RESULTS: Weight, loss of height, age, and age at menopause were strong predictors of BMD in our population. After adjustment for these differences, we found no effect of genotype at the COL1A1, COL1A2, and VDR loci on BMD. CONCLUSIONS: Bone mineral density is a complex trait that is influenced by several different modifiers; in the present study, weight was the best predictor of postmenopausal BMD. While several studies suggest that VDR genotype is an important determinant of BMD, we did not find this association in our population, nor did we identify an association between allelic variation at the type I collagen gene loci and BMD. Identification of genes that determine body mass index may provide additional insight into risk factors for low BMD, and osteoporotic fractures.

Aged↗
PubMed1997

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patterns of these disorders. Atrioventricular canal defects (AVCDs) are most commonly associated with Down syndrome, although non-syndromic cases also occur. Non-syndromic AVCDs have been attributed to multifactorial inheritance. However, the occurrence of a few kindreds with multiple affected individuals has suggested that a major genetic locus can account for the disorder in some families. We have used a combination of DNA pooling and shared segment analysis to perform a high density screen of the entire autosomal human genome in an extended kindred. In so doing, we have identified a genetic locus on chromosome 1 shared by all affected individuals. Our data demonstrate the existence of a congenital heart defect susceptibility gene, inherited as an autosomal dominant with incomplete penetrance, involved in AVCD. Furthermore, our data demonstrate the power of using key isolated kindreds in combination with high density genomic screens to identify loci involved in complex disorders such as congenital heart defects.

Chromosome Mapping↗
PubMed1996

Evaluation of diabetic patients for renal and pancreas transplantation: noninvasive screening for coronary artery disease using radionuclide methods.

Pharmacologic stress thallium scintigraphy is commonly performed in the risk assessment of diabetic patients with nephropathy before kidney and/or pancreas transplantation; however, controversy exists regarding the test's accuracy in detecting coronary artery disease. Our purpose was to compare pharmacologic stress thallium scintigraphy and also exercise radionuclide ventriculography with coronary angiography in diabetic patients undergoing evaluation for transplantation. In addition, we also determined the association of the test results with outcome after transplantation. The medical records of 47 patients (mean age, 37+/-9 years) without clinical evidence of coronary artery disease were reviewed. Forty-one patients had pharmacologic stress thallium scintigraphy performed during their evaluation. Sensitivity was 62% and specificity was 76% for detecting > or = 75% coronary artery stenosis (sensitivity was 53% and specificity was 73% for > or = 50% stenosis). Thirty-five patients had exercise radionuclide ventriculography performed. Sensitivity was 50% and specificity was 67% for detecting > or = 75% coronary artery stenosis (sensitivity was 44% and specificity was 63% for > or = 50% stenosis). Thirty patients had both pharmacologic stress thallium scintigraphy and exercise radionuclide ventriculography performed; when either test was abnormal, sensitivity in the detection of > or = 50% or > or = 75% stenosis tended to increase compared with pharmacologic stress thallium scintigraphy alone (0.05<P<0.10), whereas specificity decreased (P<0.01). The incidence of adverse cardiac outcomes was identical for patients with abnormal thallium scintigrams and undergoing transplantation (2/11) compared with patients with normal scintigrams and undergoing transplantation (4/22). We conclude that: (1) pharmacologic stress thallium scintigraphy and exercise radionuclide ventriculography are suboptimal screening tests for coronary artery disease in diabetic patients awaiting kidney and/or pancreas transplantation; (2) using the two radionuclide tests in combination results in a decrease in specificity; and (3) patients with abnormal thallium scintigrams can receive transplants with outcomes similar to those for patients with normal thallium scintigrams.

Adult↗
PubMed1996

Maternal alcohol use and risk of orofacial cleft birth defects.

Maternal alcohol use during pregnancy is a known cause of birth defects associated with the fetal alcohol syndrome, but its role in more common, isolated, craniofacial birth defects is not well understood. A population-based, case-control study of orofacial clefts was conducted in Iowa using births during 1987-1991. Cases were identified by the Iowa Birth Defects Registry and classified as having a cleft lip with or without cleft palate (CLP) or cleft palate only (CP) and whether the cleft was isolated or occurred with other birth defects. Controls were selected from normal Iowa births. Maternal alcohol use during pregnancy was classified according to self-reported drinks consumed per month. Results are based on 302 controls and the following numbers in each case group: 118 isolated CLP, 56 isolated CP, 51 CLP with multiple defects, and 62 CP with multiple defects. Compared to women who did not drink alcohol during pregnancy, the relative odds of isolated CLP rose with increasing level of maternal drinking as follows: 1-3 drinks per months, 1.5; 4-10 drinks per month, 3.1; more than 10 drinks per month, 4.7 (chi-square test for trend, P = 0.003). Adjustment for maternal smoking, vitamin use, education, and household income did not substantially alter these results. No significant association was found between alcohol use and isolated cleft palate or clefts in children with multiple birth defects. Alcohol use during pregnancy may be a cause of isolated cleft lip with or without cleft palate.

Adult↗
PubMed1996

Coronary risk factors measured in childhood and young adult life are associated with coronary artery calcification in young adults: the Muscatine Study.

OBJECTIVES: This study was designed to estimate the prevalence of coronary artery calcification in young adult men and women and to examine the association between the presence of coronary artery calcification and coronary risk factors measured in childhood and young adult life. BACKGROUND: Electron beam computed tomography is a sensitive, noninvasive method for detecting coronary artery calcification, a marker of the atherosclerotic process. Coronary artery calcification is associated with coronary risk factors in older adults. METHODS: Subjects (197 men, 187 women) had coronary risk factors measured in childhood (mean age 15 years) and twice during young adult life (mean ages 27 and 33 years). Each underwent an electron beam computed tomographic study at their second young adult examination. RESULTS: The prevalence of coronary artery calcification was 31% in men and 10% in women. Increased body size, increased blood pressure and decreased high density lipoprotein (HDL) cholesterol levels were the coronary risk factors that showed the strongest association with coronary artery calcification. Significant odds ratios for coronary artery calcification, using standardized risk factor measurements at a mean age of 33 years in men and women, respectively, were 6.4 and 13.6 for the highest decile of body mass index, 6.4 and 6.4 for the highest decile of systolic blood pressure and 4.3 and 4.7 for the lowest decile of HDL cholesterol. CONCLUSIONS: Coronary artery calcification is more prevalent in men in this young adult population. Coronary risk factors measured in children and young adults are associated with the early development of coronary artery calcification. Increased body mass index measured during childhood and young adult life and increased blood pressure and decreased HDL cholesterol levels measured during young adult life are associated with the presence of coronary artery calcification in young adults.

Adolescent↗
PubMed1996

Understanding logistic regression analysis through example.

Logistic regression is a valuable statistical tool that is often used in primary care research. When researchers explore the association between a possible risk factor and a disease, they attempt to control the effects of extraneous factors (confounders) that can obscure the true association. Using logistic regression, researchers can simultaneously control for the effects of multiple confounders. When investigators use logistic regression, they make subjective decisions about which factors to include in the analysis and in the final predictive model. Critical readers must understand basic concepts of logistic regression and potential problems with its use before they can accurately interpret study results. This article uses a familiar example to explain the principles of logistic regression to make it understandable to nonstatisticians.

Coffee↗
PubMed1995

Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects.

BACKGROUND: Congenital heart disease is common in Down syndrome patients, with atrioventricular septal defects accounting for a majority of the abnormalities. The molecular mechanisms of meiotic nondisjunction resulting in Down syndrome were studied for associations with the presence of atrioventricular septal defects. METHODS AND RESULTS: Twenty highly polymorphic chromosome 21 microsatellite markers were used to genotype two groups of patients (group 1: Down syndrome with atrioventricular septal defects, n = 43; and group 2: Down syndrome without cardiac defects, n = 51) to determine (1) the parental origin of the extra chromosome, (2) the stage of meiotic nondisjunction resulting in the trisomy, (3) the presence or absence of disomic homozygosity or heterozygosity, and (4) the degree of recombination in the nondisjoined chromosomes. The parental origin of the nondisjoined chromosome was maternal in 86.2% of the families, with no significant differences between groups. The most centromeric marker was nonreduced, indicating a meiosis I nondisjunction in 76.5% of maternally derived trisomies, and reduced, indicating a meiosis II nondisjunction in 76.9% of paternally derived trisomies, with no significant differences between groups. There were no significant differences in the proportion of reduced markers at any locus between groups. The distribution of the number of crossovers was significantly different between groups (chi 2 = 14.12, P < .001), with less recombination observed in group 1. CONCLUSIONS: In Down syndrome patients, no association was found between the presence of an atrioventricular septal defect and the parent of origin, stage of meiotic nondisjunction, or disomic homozygosity or heterozygosity. A significant association was found between the presence of an atrioventricular septal defect and reduced frequency of recombination.

Case-Control Studies↗