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Biomedical subjects

D Main

Publications and source records attributed to D Main.

33 records · Page 2Linked to original sources
PubMed1998

What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing.

PURPOSE: To identify members of hereditary breast and ovarian cancer families who are at risk for adverse psychologic effects of genetic testing. PATIENTS AND METHODS: A prospective cohort study with baseline (preeducation) assessments of predictor variables (ie, sociodemographic factors, cancer history, and cancer-related stress symptoms) was performed. The primary outcome variable (presence of depressive symptoms) was assessed at baseline and at 1- and 6-month follow-up evaluations. Participants were 327 adult male and female members of BRCA1- and BRCA2-linked hereditary breast and ovarian cancer families, who were identified as carriers, noncarriers, or decliners of genetic testing. RESULTS: The presence of cancer-related stress symptoms at baseline was strongly predictive of the onset of depressive symptoms in family members who were invited but declined testing. Among persons who reported high baseline levels of stress, depression rates in decliners increased from 26% at baseline to 47% at 1-month follow-up; depression rates in noncarriers decreased and in carriers showed no change (odds ratio [OR] for decliners v noncarriers=8.0; 95% confidence interval [CI], 1.9 to 33.5; P=.0004). These significant differences in depression rates were still evident at the 6-month follow-up evaluation (P=.04). CONCLUSION: In BRCA1/2-linked families, persons with high levels of cancer-related stress who decline genetic testing may be at risk for depression. These family members may benefit from education and counseling, even if they ultimately elect not to be tested, and should be monitored for potential adverse effects.

Adolescent↗
PubMed1998

The role of the serotonin transporter gene in cigarette smoking.

Data from twin studies have suggested that cigarette smoking has a significant heritable component. The serotonin transporter gene (5-HTT) is a plausible candidate gene for smoking predisposition because of its association with psychological traits relevant to smoking behavior. The present investigation evaluated the associations of smoking practices and smoking cessation with a common polymorphism in the upstream regulatory region of 5-HTT that is manifested as either an inserted (long) variant or a deleted (short) variant. The short variant of the polymorphism is associated with reduced transcription of the gene promoter and diminished uptake. A case-control study design (268 smokers and 230 controls) was used to evaluate the associations of 5-HTT genotype with smoking status. Case series analysis of smokers was used to evaluate the role of 5-HTT in age at smoking initiation, previous quitting history, current smoking rate, and 12-month quit rate following a minimal-contact smoking cessation program. There were no significant differences in the distribution of 5-HTT genotypes in smokers as compared with nonsmokers in either Caucasians or African Americans, nor was the 5-HTT genotype associated with the smoking outcome variables. However, the results did reveal significant racial differences in the distribution of 5-HTT genotypes: Caucasians were significantly more likely to carry the short variant of the 5-HTT gene than were African Americans (P = 0.005). These findings suggest that the 5-HTT gene may not play a significant role in cigarette smoking practices.

Adult↗
PubMed1998

Dopamine D4 receptors and the risk of cigarette smoking in African-Americans and Caucasians.

An understanding of why people smoke cigarettes can have an important impact on smoking prevention and cessation. People smoke cigarettes to maintain nicotine levels in the body, and nicotine has been implicated in the stimulation of brain reward mechanisms via central neuronal dopaminergic pathways. In this study, we evaluated the association of smoking and smoking cessation with a dopamine D4 receptor 48-bp variable nucleotide tandem repeat polymorphism in which the seven-repeat allele (D4.7) reduces dopamine affinity. Smokers (n = 283) and nonsmokers (n = 192) were recruited through local media for a case-control study of smoking. After giving informed consent and answering a behavioral questionnaire, smokers underwent a single minimal-contact session of smoking cessation counseling and then were followed for up to 1 year. The frequency of the dopamine D4 receptor genetic polymorphism using PCR was determined, and individuals were classified by the number of repeat alleles (two to five repeats as S and six to eight repeats as L). Persons with those genotypes including only S alleles (homozygote S/S) were compared with those with at least one L allele (heterozygote S/L and homozygote L/L). Chi2 tests of association, Fisher's exact test, and Student's t test were used. Ps were two-tailed. The data show that African-Americans (n = 72) who had at least one L allele had a higher risk of smoking (odds ratio, 7.7; 95% confidence interval, 1.5-39.9; P = 0.006), shorter time to the first cigarette in the morning (P = 0.03), and earlier age at smoking initiation (P = 0.09) compared with homozygote S/S genotypes. After smoking cessation counseling, none of the African-American smokers with an L allele were abstinent at 2 months, compared with 35% of the smokers who were homozygote S/S (P = 0.02). The analysis of Caucasians (n = 403) did not suggest a similar smoking risk for the D4 genotypes (odds ratio, 1.0; 95% confidence interval, 0.6-1.6; P = 0.90), or smoking cessation (P = 0.75). Although the number of African-Americans is small, this study is consistent with the hypothesis that the L alleles increase the risk of smoking because these individuals are prone to use nicotine to stimulate synaptic dopamine transmission. If replicated, the data indicate that a single minimal-contact session of cessation counseling, similar to what is typically provided in primary care physician offices, is ineffective in African-American smokers who have at least one L allele. The finding of an effect for these polymorphic loci in African-Americans, but not Caucasians, suggests that the variable nucleotide tandem repeat studied here is a marker for another polymorphic site in African-Americans, but not in Caucasians.

Adult↗
PubMed1996

BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes.

OBJECTIVES: To identify predictors of utilization of breast-ovarian cancer susceptibility (BRCA1 gene) testing and to evaluate outcomes of participation in a testing program. DESIGN: Prospective cohort study with baseline interview assessment of predictor variables (eg, sociodemographic factors, knowledge about hereditary cancer and genetic testing, perceptions of testing benefits, limitations, and risks). BRCA1 test results were offered after an education and counseling session in a research setting. Outcome variables (including depression, functional health status, and prophylactic surgery plans [follow-up only]) were assessed at baseline and 1-month follow-up interviews. PARTICIPANTS: Adult male and female members (n=279) of families with BRCA1-linked hereditary breast-ovarian cancer (HBOC). RESULTS: Of subjects who completed a baseline interview (n=192), 60% requested BRCA1 test results (43% of all study subjects requested results). Requests for results were more frequent for persons with health insurance (odds ration [OR], 3.74; 95% confidence interval [CI], 2.06-6.80); more first-degree relatives affected with breast cancer (OR, 1.59; 95% CI, 1.16-2.16); more knowledge about BRCA1 testing (OR, 1.85; 95% CI, 1.36-2.50); and indicating that test benefits are important (OR, 1.45; 95% CI, 1.13-1.86). At follow-up, noncarriers of BRCA1 mutations showed statistically significant reductions in depressive symptoms and functional impairment compared with carriers and nontested individuals. Individuals identified as mutation carriers did not exhibit increases in depression and functional impairment. Among unaffected women with no prior prophylactic surgery, 17% of carriers (2/12) intended to have mastectomies and 33% (4/12) to have oophorectomies. CONCLUSIONS: Only a subset of HBOC family members are likely to request BRCA1 testing when available. Rates of test use may be higher in persons of a higher socioeconomic status and those with more relatives affected with breast cancer. For some high-risk individuals who receive test results in a research setting that includes counseling, there may be psychological benefits. More research is needed to assess the generalizability of these results and evaluate the long-term consequences of BRCA1 testing.

Adult↗
PubMed1994

Diagnostic ultrasound in pregnancy and low birthweight.

Diagnostic ultrasound has been used increasingly in obstetric practice over the past decade. To date, adverse effects of ultrasound on the fetus have not been reported, but studies have been done on small sample sizes. This study looks specifically at the association of ultrasound exposure during pregnancy and the risk of low birthweight in the offspring. A validation case-control study was also performed based on information from a sample of medical charts. With a database of more than 13,000 pregnancies, there was no indication of an adverse effect of ultrasound performed during the first two trimesters of pregnancy.

Adolescent↗
PubMed1987

Surgical therapy of femoral artery pseudoaneurysm after angiography.

Seventy patients requiring surgical treatment for femoral artery pseudoaneurysm after angiographic procedures have been presented. The 10 year study period encompassed 38,822 catheter procedures (31,951 cardiology procedures and 6,871 radiology procedures) performed through the femoral artery. Presenting complaints included pain (51 percent) and neuropathy (19 percent). Additional morbidity has been discussed. The present study differs from previous ones in that many of the patients had femoral artery pseudoaneurysm formation in the common femoral artery without a history of smoking, diabetes, or hypertension. There was no demonstrable association with anticoagulation or antiplatelet therapy. The incidence of femoral artery pseudoaneurysm did increase with the use of a catheter sheath from 0.06 to 0.3 percent (p less than 0.005). This has not been reported previously. Direct arterial repair was utilized in 63 patients, whereas arterial reconstruction was required in 7 patients (saphenous vein graft in 4 and prosthetic graft in 3). There was one wound complication but no mortality associated with the surgical repair. Acceptable reasons for repair of femoral artery pseudoaneurysms are persisting or enlarging femoral artery pseudoaneurysms, associated pain or neuropathy, and rupture of femoral artery pseudoaneurysms.

Adult↗
PubMed1987

Halogenated pyrimidines as radiosensitizers in the treatment of glioblastoma multiforme.

Sixty patients with high-grade gliomas (including 50 patients with glioblastoma multiforme) were entered on four sequential Phase I trials combining continuous intravenous infusions of halogenated pyrimidines and high-dose brain irradiation. Patients received two 14-day infusions of bromodeoxyuridine (BUdR) or iododeoxyuridine (IUdR) during the initial wide field and later reduced field radiation treatment (total radiation dose 65-70 Gy). All patients were followed a minimum of 6 months or until death. The actuarial median survival was 13 months for the entire group, with an 18-month survival of 24%. No significant survival differences were observed based on BUdR versus IUdR, 12-h versus 24-h infusion schedule, degree of surgical resection, or sex. Good performance status and age under 50 years were significant favorable prognostic factors. Of interest, the 48 patients who completed planned treatment had a 14-month median survival, with a 30% 18-month survival. These survival observations are at least comparable to other combined modality trials in patients with glioblastoma multiforme. Ongoing and planned clinical trials using the halogenated pyrimidine analogs as radiosensitizers in patients with glioblastoma multiforme are discussed.

Astrocytoma↗
PubMed1981

Studies of caffeine and theophylline in the neonate.

About 50% of 327 umbilical cord sera from infants born at the Medical Center Hospital of Vermont contained 1.0 microgram/ml or more of caffeine; about 25% contained equivalent concentrations of theophylline. Cord concentrations of caffeine greater than 3.0 micrograms/ml were associated with a significantly increased incidence of birthweights greater than 4 kg and a decrease in the incidence of 1-minute Apgar scores of less than seven. Cord blood caffeine concentrations of 69 infants born in Marburg, West Germany had a mean of 1.6 micrograms/ml, with 64% greater than 1 microgram/ml. Caffeine accumulated in the serum of infants treated with aminophylline for apnea of prematurity, apparently from methylation of theophylline.

Aminophylline↗
PubMedDate not supplied

Investigation of mechanisms linking depressed mood to nicotine dependence.

The present study examined the cognitive-behavioral linkages between depressed mood and level of nicotine dependence in smokers seeking smoking cessation treatment. Prior to treatment, 202 subjects completed validated self-report measures of smoking history, depressive symptomatology, "self medication" processes, "learned helplessness" processes, and nicotine dependence. Results revealed that 48% of the study population scored in the "depressed" range on the Center for Epidemiologic Studies (CESD) depression scale. Further, these smokers reported significantly higher levels of nicotine dependence than other nondepressed smokers. Depressed and nondepressed smokers did not differ with respect to several cognitions related to learned helplessness theory. However, depressed smokers were more likely to report "self medication" processes (i.e., negative affect reduction smoking and stimulation smoking). In addition, multivariable regression and path analyses suggested that negative affect reduction smoking and stimulation smoking are sequential mediators of the depression-nicotine dependence relationship. These results underscore the need to screen for depressive symptomatology among smokers seeking treatment, and to develop cessation treatments that are tailored to the needs of depressed smokers.

Adolescent↗
PubMedDate not supplied

Genetic susceptibility testing in smoking-cessation treatment: one-year outcomes of a randomized trial.

This study evaluated the long-term impact of genetic susceptibility biomarker feedback on smoking behavior change and symptoms of depression in 426 male and female smokers. Smokers were randomized to one of three smoking-cessation interventions: minimal contact quit-smoking counseling (QSC), QSC + exposure biomarker feedback (EBF), and QSC + EBF + biomarker feedback about genetic susceptibility to lung cancer (SBF). The logistic regression model for quit attempt revealed a significant main effect for treatment such that participants in the SBF group were more than two times more likely to make a quit attempt than participants in the QSC group. There was not a significant difference between EBF and QSC participants. The results also revealed a significant effect for baseline stage of change. Those smokers in the preparation stage at baseline were more than three times more likely to make a quit attempt over the 12 months following treatment. The models for 30-day cessation and follow-up smoking rate revealed no significant main or interacting effects for treatment. A repeated measures analysis of variance revealed a significant main effect for time, indicating that an initial increase in depression in the genetic susceptibility group was not maintained over time. Genetic susceptibility feedback has the intended effects on motivation to quit, but it may need to be delivered within a more intensive smoking-cessation treatment for the heightened motivation to translate into smoking cessation.

Adolescent↗