Utilization of Complementary Alternative Medicine, Diet, and Exercise Among Women at High Risk for Developing Breast Cancer.

Women diagnosed as having a high risk for breast cancer (HR-BC) often seek different health behaviors (HBs) such as complementary and alternative medicine (CAM), diet, and exercise to improve their health and cancer outcome. Women already enrolled in a multimodality screening study for patients at HR-BC (gene mutation carrier or >20% cumulative lifetime risk) were given a questionnaire to evaluate their use of CAM therapies, diet, and exercise before and after a diagnosis of HR-BC. Patients were also asked to complete the Short-Form 36, State-Trait Anxiety Inventory, and Beck Depression Inventory.

Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in Mutation Carriers.

Purpose: To establish a cohort of high-risk women undergoing intensive surveillance for breast cancer. We performed dynamic contrast-enhanced MRI every 6 months in conjunction with annual mammography (MG). Eligible participants had a cumulative lifetime breast cancer risk ≥20% and/or tested positive for a pathogenic mutation in a known breast cancer susceptibility gene.

Breast cancer detected on an incident (second or subsequent) round of screening MRI: MRI features of false-negative cases.

Objective: The purpose of this article is to evaluate the nature of breast cancers detected in the incident round of screening MRI to determine MRI features of early breast cancer.

Materials And Methods: From 2003 to 2012, there were 16 incident breast cancers in 15 patients on screening MRI, including nine cancers that were retrospectively identifiable on the prior MRI (false-negative [FN] cancers at prior screening examination). We evaluated the BI-RADS features of these incident cancers in previous and current MRI scans.

Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers.

Purpose: To evaluate prophylactic salpingo-oophorectomy uptake and timing among BRCA1/2 mutation carriers in a cancer risk assessment program.

Methods: Clinical records of female BRCA1/2 mutation carriers who received cancer genetic counseling between 1996 and 2003 were reviewed to determine the completion and the timing of prophylactic salpingo-oophorectomy. Logistic regression models evaluated associations between subject characteristics and surgery.

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.

Background: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate.

Prenatal diagnosis of methotrexate embryopathy.

Background: Methotrexate is an antineoplastic agent used by obstetrician-gynecologists for termination of early pregnancy. The drug is not always successful and is associated with a known array of malformations.

Case: We present a case of a failed pregnancy termination with methotrexate, which resulted in fetal anomalies.

A null mutation in HLA-G is not associated with preeclampsia or intrauterine growth retardation.

Modulation of the expression of genes of the major histocompatibility complex (MHC) in tissues at the maternal-fetal interface almost certainly plays a role in successful development of the semi-allogeneic fetus. While expression of the classical class I genes (HLA-A, B, C) is low to non-existent at this site, the non-classical molecule, HLA-G, is expressed uniquely in fetal cells at the maternal-fetal interface. The recent demonstration that homozygotes for a deletion mutation in exon 3 (1597DeltaC) of HLA-G do not express the full-length HLA-G1 isoforms indicates a potential reduction in expression of this isoform in heterozygotes.

The role of physician preferences in the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing.

Our objective was to determine the effect of physician preferences, as well as physician demographic, obstetric, and practice-related factors, on the choice of prenatal test made by their patients. We studied preferences for prenatal outcomes for 372 pregnant women who either chose amniocentesis (AMN) (n = 288) or chorionic villus sampling (CVS) (n = 84) for the indication of maternal age. We also studied preferences for these outcomes for the 92 physicians that referred them for testing.

Cellular response in rabbit eyes after human fetal RPE cell transplantation.

Background: This study was carried out to study inflammatory and proliferative cellular responses in the rabbit eye after subretinal transplantation of human fetal retinal pigment epithelial (HFRPE) cells.

Methods: 5-Bromo-2-deoxyuridine (BrdU)-labeled HFRPE cells were injected subretinally into rabbit eyes at three different concentrations. Macrophage, glial, and proliferative responses of the eye tissues were studied by immunohistochemistry and light microscopy at different times after the surgery.

Growth of human fetal retinal pigment epithelium as microspheres.

Background: The aim was to develop a three-dimensional cell culture system for human fetal retinal pigment epithelial (HFRPE) cells for in vitro cellular studies and for possible application in subretinal transplantation.

Methods: Pieces of freshly isolated HFRPE monolayer tissue were grown on crosslinked fibrinogen (CLF) films. The growth pattern and morphologic characteristics of the implanted tissue were studied using phase-contrast microscopy, photography, and light and electron microscopy.

Genetic counseling: clinical and ethical challenges.

After explaining the origin, nature, and goals of genetic counseling, we consider the impact of the Human Genome Project on its practice. In light of the availability of presymptomatic tests for late-onset disorders and the possibility of preventive behavior or treatment, we examine the apparent conflict between nondirectiveness and directiveness in genetic counseling. We discuss views of genetic counselors, medical geneticists, and counselees on specific issues, and document gender differences in attitudes toward genetic ties to offspring.

Patient or physician preferences for decision analysis: the prenatal genetic testing decision.

The choice between amniocentesis and chorionic villus sampling for prenatal genetic testing involves tradeoffs of the benefits and risks of the tests. Decision analysis is a method of explicitly weighing such tradeoffs. The authors examined the relationship between prenatal test choices made by patients and the choices prescribed by decision-analytic models based on their preferences, and separate models based on the preferences of their physicians.

HLA-G1 protein expression is not essential for fetal survival.

HLA-G is a nonclassical, class I HLA gene that is primarily expressed by fetal cells at the maternal-fetal interface and is thought to play a key role in the induction of tolerance in pregnancy. This paper reports the identification of a single base pair deletion at position 1597 (1597delC) in exon 3 (encoding the alpha2-domain) of HLA-G on 20 of 272 (7.4 per cent) African American chromosomes, three of 102 (2.

Choroid plexus cysts: infant and early childhood developmental outcome.

Objective: To determine the infant and early childhood developmental outcome associated with choroid plexus cysts diagnosed prenatally.

Methods: Between January 1990 and August 1995, 8270 women underwent second-trimester ultrasound examinations. All women whose fetuses were diagnosed as having choroid plexus cyst(s) underwent ultrasonographic detailed anatomy survey, were offered fetal karyotyping, and were followed with serial ultrasounds.

Prenatal testing for limb reduction defects. How patients' views affect their choice of CVS.

Objective: To determine the effect of reports and media coverage on chorionic villus sampling (CVS) and limb reduction defects (LRD) on patients' utilization of CVS for prenatal testing for advanced maternal age and to quantitate the relation of preferences for CVS and amniocentesis (AMN) outcomes to test utilization.

Study Design: We compared CVS and AMN utilization rates in two groups of women seen at one academic medical center before and after publicity concerning CVS and LRD. We measured preferences, in rating-scale units, for potential outcomes of prenatal testing in the after-publicity group.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct developmental disorders caused by absence of paternal or maternal contributions of the chromosome region 15q11-q13, resulting from deletions, uniparental disomy (UPD), or rare imprinting mutations. Molecular cytogenetic diagnosis is currently performed using a combination of fluorescence in situ hybridisation (FISH), DNA polymorphism analysis, and DNA methylation analysis. Only methylation analysis will detect all three categories of PWS abnormalities, but its reliability in tissues other than peripheral blood has not been examined extensively.

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.

Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as mosaic trisomy 15 during routine prenatal diagnostic studies. In such cases, PCR (polymerase chain reaction) microsatellite analysis of uncultured cells makes prospective prenatal diagnosis for UPD15 possible with results available in 2-4 days.

Use of decision analysis to evaluate patients' choices of diagnostic prenatal test.

Women with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their preferences. Patient preferences were assessed using visual linear rating scales.

Developmental regulation of the catalytic subunit of the apolipoprotein B mRNA editing enzyme (APOBEC-1) in human small intestine.

Apolipoprotein (apo) B mRNA editing is a site-specific cytidine deamination reaction responsible for the production of apoB-48 in mammalian small intestine. This process is mediated by an enzyme complex that includes the catalytic subunit, APOBEC-1. In the present study, it is shown that the developmental regulation of apoB mRNA editing in fetal human small intestine is closely mirrored by accumulation of APOBEC-1 mRNA.

Preferences of pregnant women for amniocentesis or chorionic villus sampling for prenatal testing: comparison of patients' choices and those of a decision-analytic model.

Decision analytic models have suggested that the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing is a utility-driven decision. We compared preferences for prenatal testing among 156 pregnant women who had chosen either amniocentesis (n = 82) or chorionic villus sampling (n = 74) for the indication of maternal age. We also compared their choices with those of a decision-analytic model based on their preferences, and age-specific rates of spontaneous abortion and chromosomal abnormalities.

A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs from hospital charges deflated to reflect aggregated contracted care reimbursements.

Posterior urethral valves in successive generations.

Posterior urethral valves (PUV) are a frequent cause of urinary tract obstruction in infant males and may be diagnosed by antenatal ultrasound. PUV have been observed in siblings and in identical twins. However, genetic factors in PUV are poorly understood.

Cook obstetrics and gynecology catheter multicenter chorionic villus sampling trial: comparison of birth defects with expected rates.

Objective: The null hypothesis was that offspring of women undergoing first-trimester chorionic villus sampling do not experience a rate of birth defects exceeding background rates.

Study Design: Follow-up information regarding major malformations was prospectively sought on offspring of 4105 women undergoing first-trimester chorionic villus sampling from nine centers participating in a collaborative study with the Cook obstetrics and gynecology catheter. These data were compared with data from the Collaborative Perinatal Project and other registries.