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Biomedical subjects

M L Cooper

Publications and source records attributed to M L Cooper.

At least 19 recordsLinked to original sources
PubMed2006

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Monosomy of distal 1p36 represents the most common terminal deletion in humans and results in one of the most frequently diagnosed mental retardation syndromes. This deletion is considered a contiguous gene deletion syndrome, and has been shown to vary in deletion sizes that contribute to the spectrum of phenotypic anomalies seen in patients with monosomy 1p36. We report on an 8-year-old female with characteristics of the monosomy 1p36 syndrome who demonstrated a novel der(1)t(1;18)(p36.3;q23). Initial G-banded karyotype analysis revealed a deleted chromosome 1, with a breakpoint within 1p36.3. Subsequent FISH and array-based comparative genomic hybridization not only confirmed and partially characterized the deletion of chromosome 1p36.3, but also uncovered distal trisomy for 18q23. In this patient, the duplicated 18q23 is translocated onto the deleted 1p36.3 region, suggesting telomere capture. Molecular characterization of this novel der(1)t(1;18)(p36.3;q23), guided by our clinical array-comparative genomic hybridization, demonstrated a 3.2 Mb terminal deletion of chromosome 1p36.3 and a 200 kb duplication of 18q23 onto the deleted 1p36.3, presumably stabilizing the deleted chromosome 1. DNA sequence analysis around the breakpoints demonstrated no homology, and therefore this telomere capture of distal 18q is apparently the result of a non-homologous recombination. Partial trisomy for 18q23 has not been previously reported. The importance of mapping the breakpoints of all balanced and unbalanced translocations found in the clinical laboratory, when phenotypic abnormalities are found, is discussed.

Child↗
PubMed2006

A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH).

This report is a retrospective study of preimplantation embryos diagnosed with monosomy for chromosomes 13, 15, 16, 18, 21, 22, X and Y on day 3 to determine the rate of true positives, false positives and/or mosaicism and to assess if these embryos are suitable for in vitro fertilization (IVF) transfer. In a one year period, 80 patients went through preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Monosomy was diagnosed in 51 embryos. Fluorescence in situ hybridization (FISH) was then performed on the blastomeres at day 5-7 with commercially available probes using the same probe set that initially identified monosomy for chromosomes 13, 16, 21 and 22 or chromosomes 15, 18, X and Y. Based on FISH analysis, the monosomy diagnosed during routine PGD-AS analysis was confirmed in 17 of the 51 embryos. A euploid result for the specific chromosomes tested was observed in 16 of the 51 embryos while mosaicism was found in the remaining 18 embryos. This results in an estimated false positive rate of 3.8% for a diagnosis of monosomy. Reanalysis of these embryos demonstrates that the majority of monosomy diagnoses represents true monosomy or mosaicism and should be excluded for transfer in IVF. Furthermore, improved understanding from recent emerging data regarding the fate of oocytes in women with advanced maternal age undergoing IVF to the development of early embryos may provide a valuable insight into the mechanism of chromosome mosaicism.

Adult↗
PubMed2005

Congenital diaphragmatic hernia in WAGR syndrome.

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have diaphragmatic hernias. Case reports describing congenital diaphragmatic hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type diaphragmatic hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type diaphragmatic hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia.

Abnormalities, Multiple↗
PubMed2000

Psychological responses of women after first-trimester abortion.

BACKGROUND: Controversy exists over psychological risks associated with abortion. The objectives of this study were to examine women's emotions, evaluations, and mental health after an abortion, as well as changes over time in these responses and their predictors. METHODS: Women arriving at 1 of 3 sites for an abortion of a first-trimester unintended pregnancy were randomly approached to participate in a longitudinal study with 4 assessments-1 hour before the abortion, and 1 hour, 1 month, and 2 years after the abortion. Eight hundred eighty-two (85%) of 1043 eligible women approached agreed; 442 (50%) of 882 were followed for 2 years. Preabortion and postabortion depression and self-esteem, postabortion emotions, decision satisfaction, perceived harm and benefit, and posttraumatic stress disorder were assessed. Demographic variables and prior mental health were examined as predictors of postabortion psychological responses. RESULTS: Two years postabortion, 301 (72%) of 418 women were satisfied with their decision; 306 (69%) of 441 said they would have the abortion again; 315 (72%) of 440 reported more benefit than harm from their abortion; and 308 (80%) of 386 were not depressed. Six (1%) of 442 reported posttraumatic stress disorder. Depression decreased and self-esteem increased from preabortion to postabortion, but negative emotions increased and decision satisfaction decreased over time. Prepregnancy history of depression was a risk factor for depression, lower self-esteem, and more negative abortion-specific outcomes 2 years postabortion. Younger age and having more children preabortion also predicted more negative abortion evaluations. CONCLUSIONS: Most women do not experience psychological problems or regret their abortion 2 years postabortion, but some do. Those who do tend to be women with a prior history of depression.

Abortion Applicants↗
PubMed2000

A longitudinal model of social contact, social support, depression, and alcohol use.

The longitudinal relations among contact with one's social network (social contact), perceived social support, depression, and alcohol use were examined. An integrative model was developed from affect regulation theory and theories of social support and dysfunctional drinking. Data were obtained from a random sample of 1,192 adults. The 3-wave panel model was tested using structural equation modeling analysis. Results revealed that (a) social contact was positively related to perceived social support; (b) perceived social support was, in turn, negatively related to depression; and (c) depression was, in turn, positively related to alcohol use for 1 of 2 longitudinal lags. There was partial support for the feedback hypothesis that increased alcohol use leads to decreased contact with family and friends. Although the results generally supported the authors' hypotheses, the significant coefficients in the model were generally small in size.

Adult↗
PubMed2000

Inhibition conflict and alcohol expectancy as moderators of alcohol's relationship to condom use.

Inhibition conflict theory predicts that alcohol will decrease condom use only among individuals who are highly conflicted about using a condom, whereas expectancy theory predicts such an effect only among individuals who hold strong beliefs about alcohol's effects on sexual risk taking. In Study 1, the first of these two theories was tested using a newly developed measure of conflict. Data from 308 college students who reported on the first time they had sexual intercourse with their most recent partner (FMRP) supported the utility of this measure and showed that quantity of alcohol consumed was negatively associated with condom use only among high-conflict individuals. In Study 2, 17- to 25-year-old respondents reported on their first sexual intercourse, FMRP, and last intercourse (ns = 465, 1136, and 984, respectively). In a simultaneous test of both inhibition conflict theory and expectancy theory, amount of alcohol consumed was found to be negatively associated with condom use at first intercourse among individuals high in both conflict and expectancy, at FMRP among high-expectancy individuals, and at last intercourse among high-conflict individuals. These results lend partial support to both theories of alcohol's effects and suggest that an integration of these two perspectives will ultimately be required if researchers are to model adequately alcohol's effects on human social behavior.

Adolescent↗
PubMed2000

Random amplified polymorphic DNA analysis of southern brown bandicoot (Isoodon obesulus) populations in Western Australia reveals genetic differentiation related to environmental variables.

Random amplified polymorphic DNA (RAPD) markers were used to analyse genetic variation within and between populations of Isoodon obesulus in Western Australia. Genetically controlled geographical variation in body size associated with habitat type and rainfall exists in this species, raising the question of whether local conditions may influence gene flow in I. obesulus. The RAPD markers displayed substantial genetic variation, with all animals possessing unique RAPD phenotypes over 39 polymorphic bands produced by three primers. Significant geographical subdivision was apparent (PhiST = 0.208) with southwest locations being divergent from all others, despite there being no physical barriers to gene flow. The pattern of subdivision was unrelated to physical distance between the locations, but was related to both annual rainfall and habitat type. Therefore, the most reasonable explanation for this pattern of subdivision appears to be that gene flow is restricted by selection against migrants between local populations with substantially different habitat type or rainfall. Restriction of gene flow through selection against migrants is rarely investigated, and the results of this study suggest that the importance of this process in the formation of population structure may be underestimated.

Animals↗
PubMed2000

A motivational perspective on risky behaviors: the role of personality and affect regulatory processes.

The present study tested a motivational model in which personality influences on risky behaviors were hypothesized to be primarily indirectly mediated, by shaping the nature and quality of emotional experience as well as characteristic styles of coping with these emotions. This model was tested in a representative community sample of 1,666 young adults, aged 18 to 25 years old. Results revealed strong support for the model, indicating that broad traits related to neuroticism and extraversion promote involvement in alcohol use and risky sex via distinct pathways. Neurotic individuals were prone to engage in risky behaviors as a way to cope with aversive mood states, whereas extraverted individuals were more likely to engage in risky behaviors as a way to enhance positive affective experience. In contrast, impulsivity directly predicted some forms of risk taking, and interacted with extraversion and neuroticism to predict motives for risky behaviors. The model provides a highly general though not complete account of risky behaviors.

Adaptation, Psychological↗
PubMed2000

Alcohol use, condom use and partner type among heterosexual adolescents and young adults.

OBJECTIVE: The present study examined the links between alcohol use and condom use, and the nature of the sexual relationship in which these behaviors occurred, and tested the notion that partner type suppresses the negative, direct effects of alcohol use on condom use. METHOD: Data were collected as part of face-to-face interviews conducted with 1,417 (54% female) randomly selected young adults (aged 18-25 years) who had had sex in the past 6 months. RESULTS: Using within-subjects analytic procedures, results showed that both drinking and condom use were more common with casual than with serious sexual partners, as expected. Moreover, consistent with the suppression hypothesis, the relationship between alcohol use and condom use became significant and negative only after controlling for partner type. CONCLUSIONS: These findings suggest that the interrelationships among partner type, alcohol use and condom use are complex and that the processes linking each pair of variables are best understood as part of a larger system of interconnected variables.

Adolescent↗
PubMed1999

Motivations for condom use: do pregnancy prevention goals undermine disease prevention among heterosexual young adults?

Differences in motives for condom use and their implications for understanding frequency of use were investigated in a random, biracial (Black, White) sample of heterosexuals, aged 17 to 25 years (n = 902). Results indicated that sexually active young adults-regardless of race, age, gender, or relationship status-were more likely to use condoms to prevent pregnancy than to prevent disease. Reasons for use mediated the effects of relationship status on condom use per se and moderated the effects of attitudinal and perceptual variables on condom use. Finally, comparisons among condom users motivated by different prevention goals and nonusers (n = 388) revealed that differences among user subgroups were nearly as numerous and, in some cases, more robust than differences between users and nonusers. These findings indicate that condom users comprise distinct subgroups, defined in part by their underlying motives for use, and highlight important conceptual and empirical reasons to distinguish among them.

Acquired Immunodeficiency Syndrome↗
PubMed1999

A longitudinal study of stress, alcohol, and blood pressure in community-based samples of blacks and non-blacks.

Both alcohol use and stress appear to increase blood pressure. In addition, stress is associated with increased alcohol use. To investigate these relationships, researchers interviewed representative samples of the black and non-black adult household populations in Erie County, New York, in 1986, 1989, and 1993. The results support a causal relationship between stress and alcohol use and point to a number of factors that influence this relationship. Significant relationships between changes in alcohol use and blood pressure were also found. Although the researchers found little evidence for a direct effect of stress on blood pressure, stress related to family life, anxiety, and depression was associated with an increased risk for hypertension.

Adult↗
PubMed1998

Comparison of mitomycin C trabeculectomy, glaucoma drainage device implantation, and laser neodymium:YAG cyclophotocoagulation in the management of intractable glaucoma after penetrating keratoplasty.

PURPOSE: This study aimed to compare the surgical outcomes of mitomycin C trabeculectomy glaucoma drainage device (GDD) surgery and laser neodymium:YAG (Nd:YAG) cyclophotocoagulation (CPC) in the management of intractable glaucoma after penetrating keratoplasty (PKP) in a retrospective study. DESIGN: Interventional case series. PARTICIPANTS/METHODS: The medical charts of consecutive patients who had pre-existing glaucoma or who developed glaucoma after PKP and underwent a surgical procedure to control the glaucoma at the University Eye Associates of Boston University Medical Center, New England Eye Center, and Massachusetts Eye and Ear Infirmary between January 1991 and July 1995 were reviewed. Follow-up ranged from 6 months to 4 years after the glaucoma procedure. A total of 38 patients were included consisting of 17 patients who underwent mitomycin C, 10 patients who underwent GDD surgery, and 11 patients who had CPC. INTERVENTION: Mitomycin C trabeculectomy, GDDs, or Nd:YAG CPC to control glaucoma after PKP was performed, MAIN OUTCOME MEASURES: Graft status, postoperative intraocular pressure (IOP), and visual acuity were the main outcome measures. RESULTS: There were no differences among the three groups with respect to the follow-up time after the corneal graft operation (P = 0.15) or after the glaucoma operation (P = 0.98). At the final follow-up, the average decrease in the IOP was 17 mmHg (P < 0.001) after mitomycin C, 15 mmHg (P = 0.003) after GDD surgery, and 14.4 mmHg (P = 0.001) after CPC. There were no differences in the proportion of patients who developed postoperative IOP above 20 mmHg (P = 0.50) and in the proportion who developed hypotony (P = 0.10) among the three groups. Two grafts failed after mitomycin C and one failed after CPC. Among the three procedures, there were no differences in the proportion of patients who experienced either an improvement (P = 0.14) or a decrease (P = 0.22) in the visual acuity by more than one line after the glaucoma procedure. One patient each in the GDD group and the CPC group lost light perception after the procedure. The risk of graft failure was almost three times higher for each additional PKP (odds ratio = 2.80, P = 0.02). CONCLUSIONS: No differences were found among the three glaucoma procedures with respect to controlling IOP and graft failure. There was a trend for patients treated with CPC to have a higher incidence of graft failure, glaucoma failure, hypotony, and visual loss by more than one line, although this was not statistically significant. The number of PKPs was associated with graft failure, independent of the surgical procedure.

Adolescent↗
PubMed1998

Personal resilience, cognitive appraisals, and coping: an integrative model of adjustment to abortion.

We hypothesized that the effects of personality (self-esteem, control, and optimism) on postabortion adaptation (distress, well-being, and decision satisfaction) would be fully mediated by preabortion cognitive appraisals (stress appraisals and self-efficacy appraisals) and postabortion coping. We further proposed that the effects of preabortion appraisals on adaptation would be fully mediated by postabortion coping. Results of a longitudinal study of 527 women who had first-trimester abortions supported our hypotheses. Women with more resilient personalities appraised their abortion as less stressful and had higher self-efficacy for coping with the abortion. More positive appraisals predicted greater acceptance/reframing coping and lesser avoidance/denial, venting, support seeking, and religious coping. Acceptance-reframing predicted better adjustment on all measures, whereas avoidance-denial and venting related to poorer adjustment on all measures. Greater support seeking was associated with reduced distress, and greater religious coping was associated with less decision satisfaction.

Abortion, Induced↗
PubMed1998

Attachment styles, emotion regulation, and adjustment in adolescence.

Attachment style differences in psychological symptomatology, self-concept, and risky or problem behaviors were examined in a community sample (N = 1,989) of Black and White adolescents, 13 to 19 years old. Overall, secure adolescents were the best-adjusted group, though not necessarily the least likely to engage in risky behaviors. Anxious adolescents were the worst-adjusted group, reporting the poorest self-concepts and the highest levels of symptomatology and risk behaviors. In contrast, avoidant adolescents reported generally high levels of symptomatology and poor self-concepts but similar levels of risk behaviors to those found among secures. Mediation analyses suggested that the observed differences in problem behaviors were at least partially accounted for by the differential experience of distress symptoms (primarily hostility and depression) and by social competence. Finally, patterns of attachment effects were similar across age, gender, and racial groups, with some important exceptions.

Adaptation, Psychological↗
PubMed1998

Motivations for sex and risky sexual behavior among adolescents and young adults: a functional perspective.

The implications of a functionalist perspective for understanding sexual risk taking are explored. Key motivational dimensions thought to underlie human behavior (viz., approach vs. avoidance, autonomy vs. relatedness) were used to identify 4 broad domains of sexual motivations and to develop a measure of specific motives within each of these domains. Data from both college student and community samples are used to demonstrate the psychometric adequacy of these scales and to show that having sex for different reasons predicts distinctive patterns of sexual risk taking both cross-sectionally and longitudinally: that selection into specific types of sexual relationships partially mediates these effects; and that these needs may be differentially expressed, or even suppressed, depending on relationship context. Results provide strong support for the functionalist perspective on behavior and indicate that an adequate understanding of sexual risk-taking behavior must take into account the various needs and goals that such behavior can serve.

Adolescent↗
PubMed1998

Sex-related alcohol expectancies as moderators of the relationship between alcohol use and risky sex in adolescents.

OBJECTIVE: Alcohol is frequently identified as a potential contributor to HIV-related sexual risk taking. Drawing on alcohol expectancy explanations for postdrinking behavior, the present study tested the hypothesis that adolescents who drink alcohol on a given occasion will be more likely to engage in sexual risk-taking behavior to the extent that they believe that alcohol disinhibits sexual behavior or promotes sexual risk taking. METHOD: The combined effects of sex-related alcohol expectancies and alcohol use in sexual situations were investigated using interview data from a representative sample of 907 (476 male) sexually experienced adolescents (13 to 19 years) who had ever consumed alcohol. RESULTS: Regression analyses on a composite measure of risk taking revealed that for two of three intercourse occasions examined alcohol use was associated with greater risk taking primarily among respondents who expected alcohol to increase risky sexual behavior. CONCLUSIONS: The results lend support to expectancy theories of alcohol's effects on sexual risk taking and raise the possibility that providing overly simplistic warnings that "alcohol leads to risky sex" may paradoxically increase the likelihood that individuals will fail to act prudently when intoxicated. Preventive interventions might beneficially focus on weakening, rather than strengthening, individuals' expectancies with regard to the impact of alcohol on sexual behavior, so that self-protective behavior will be more likely to occur even during intoxication.

Adolescent↗