Equilibrium surface adsorption behavior in complex anionic/nonionic surfactant mixtures.

Neutron reflectivity (NR) and small angle neutron scattering (SANS) have been used to investigate the equilibrium surface adsorption behavior and the solution microstructure of mixtures of the anionic surfactant sodium 6-dodecyl benzene-4 sulfonate (SDBS) with the nonionic surfactants monododecyl octaethylene glycol (C12EO8) and monododecyl triiscosaethylene glycol (C12EO23). In the SDBS/C12EO8 and SDBS/C12EO23 solutions, small globular mixed micelles are formed. However, the addition of Ca2+ ions to SDBS/C12EO8 results in a transition to a vesicle phase or a mixed vesicle/micellar phase for SDBS rich compositions.

Development and testing of a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation.

For women who carry a mutation in BRCA1 or BRCA2, the risk of breast cancer is up to 87% by the age of 70. There are options available to reduce the risk of breast cancer; however, each option has both risks and benefits, which makes decision making difficult. The objective is to develop and pilot test a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation.

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

Background: Women with a BRCA1 or BRCA2 genetic mutation have several options for cancer prevention, including prophylactic surgery, chemoprevention and screening. In this study we report on preventive practices used by women with and without breast cancer and examine differences in their selection of preventive practices according to geographic area in Canada.

Methods: Canadian women with a BRCA1 or BRCA2 mutation were followed after genetic testing and questioned about their preventive practices.

The sexual scripts of Kenyan young people and HIV prevention.

The scripting of sexual encounters among young people in Kenyan is described using results of 28 focus group discussions conducted with young people attending primary school standard 7, from four different ethnic groups and living in 22 different communities. Sexual encounters were described as both mundane and inevitable and followed a predetermined scripted sequence of events and interactions in which girls and boys played complementary roles. These scripts were set within discourses of force and the exchange of gifts for sex.

Direct-to-patient BRCA1 testing: the Twoj Styl experience.

Ideally, a genetic screening program for cancer should offer testing to all women who qualify, and who wish to participate, and who might benefit from the test. As the number of preventive options for women at high risk for hereditary breast cancer expands, the demand for testing increases. However, many women do not have ready access to testing because of cost, and many others have not been recognized by their physicians to be candidates for testing.

Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families.

Limited attention has been given to the impact of BRCA mutation disclosure on participants' psychological reaction and cancer control compliance. We asked women (290 mutation-positive, 370 mutation-negative) from 84 hereditary breast-ovarian cancer (HBOC) families with known deleterious BRCA mutations to participate in an evaluation regarding cancer prevention recommendations before and after BRCA mutation disclosure. Both men and women (n = 780) were invited to complete a questionnaire to evaluate their psychological response to BRCA mutation disclosure.

Discriminating power of localized three-dimensional facial morphology.

Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups.

GTF2IRD1 in craniofacial development of humans and mice.

Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1.

The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation.

Purpose: The purpose of this study was to assess women's knowledge about tamoxifen, to examine the frequency of tamoxifen usage and other preventive measures in BRCA1/2 mutation carriers, and to document women's concerns about taking tamoxifen for chemoprevention.

Methods: One hundred and twenty five women with known BRCA1 or BRCA2 mutation and with no prior diagnosis of breast or ovarian cancer were identified through the records of two large cancer genetics clinics. These women had been counseled about their cancer risk and various preventive options were discussed.

A comparison of bilateral breast cancers in BRCA carriers.

Background: Women with breast cancer and a BRCA mutation have a high risk of developing a contralateral breast cancer. It is generally believed that the two cancers represent independent events. However, the extent of concordance between the first and second tumors with respect to hormone receptor expression and other pathologic features is unknown.

Time to reconsider subcutaneous mastectomy for breast-cancer prevention?

Genetic testing for women at increased risk of developing breast cancer has moved from the research setting to become part of established clinical practice. By testing for inherited mutations in BRCA1 and BRCA2, we are identifying more and more women who have an 80% or more lifetime risk of developing breast cancer. Since the discovery of BRCA1 in 1994, several clinical studies have led to strategies for reducing the risk of developing breast cancer, including prophylactic mastectomy, prophylactic oophorectomy, and preventive tamoxifen.

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Williams-Beuren syndrome (WBS) is a neurodevelopmental microdeletion disorder that usually occurs sporadically due to its location within a highly repetitive genomic region that is unstable and prone to unequal cross-over during meiosis. The consequential loss of chromosomal material includes approximately 1.5 Mb of DNA at 7q11.

Predictors of quality of life in women with a bilateral prophylactic mastectomy.

The purpose of this study was to assess the quality of life in women who had previously undergone a bilateral prophylactic mastectomy and to determine what factors predict quality of life in this population. Women in Ontario who had undergone prophylactic mastectomy between 1991 and 2000 were asked to complete several questionnaires that assessed current psychosocial functioning, including the Quality of Life Index (QLI). The mean score for the QLI was 23.

Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.

Purpose: To compare the presentation of invasive breast cancer in BRCA1 and BRCA2 mutation carriers with and without prior bilateral oophorectomy.

Patients And Methods: Women with a BRCA1 or BRCA2 mutation with the diagnosis of invasive breast cancer were identified from ten cancer genetics clinics. The medical history, medical treatment records and pathology reports for the breast cancers were reviewed.

The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers.

Objective: To estimate the risk of ovarian cancer after a primary diagnosis of breast cancer among women with a BRCA1 or BRCA2 mutation and to identify host and treatment-related factors that might modify the risk.

Patients And Methods: Patients were 491 women with stage I or stage II breast cancer, diagnosed from 1975 to 2000 and for whom a BRCA1 or BRCA2 mutation had been identified. Patients were followed from the initial diagnosis of breast cancer until either ovarian cancer, prophylactic oophorectomy, death, or 2002.

A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations.

Background: Women with a BRCA1/BRCA2 mutation experience significant challenges. These include decision-making regarding surgical options and notification to offspring and family, along with a sense of isolation, which may lead to psychological and emotional distress. The current study developed, standardized, and conducted preliminary testing of a supportive-expressive group therapy intervention designed to address these challenges.

Prophylactic bilateral mastectomy for breast cancer prevention.

Prophylactic bilateral mastectomy, or preventive removal of the breasts, is an option for women who are at increased risk of developing breast cancer. Among the highest risk groups are those women with a significant family history of breast cancer and those with a known genetic predisposition to the disease. There are many issues surrounding prophylactic mastectomy.

Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth.

Although GH replacement improves the features of GH deficiency (GHD) in adults, it has yet to be established whether cessation of GH at completion of childhood growth results in adverse consequences for the adolescent with GHD. Effects of continuation or cessation of GH on body composition, insulin sensitivity, and lipid levels were studied in 24 adolescents (13 males, 11 females, aged 17.0 +/- 0.

Satisfaction with breast reconstruction in women with bilateral prophylactic mastectomy: a descriptive study.

Prophylactic bilateral mastectomy is an option for women who are at an increased risk of developing breast cancer. Prophylactic mastectomy is often performed with immediate reconstruction (i.e.

Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

Purpose: To estimate the risk of contralateral breast cancer in BRCA1 and BRCA2 carriers after diagnosis and to determine which factors are predictive of the risk of a second primary breast cancer.

Patients And Methods: Patients included 491 women with stage I or stage II breast cancer, for whom a BRCA1 or BRCA2 mutation had been identified in the family. Patients were followed from the initial diagnosis of cancer until contralateral mastectomy, contralateral breast cancer, death, or last follow-up.

Obstructive sleep apnea presenting as pseudopheochromocytoma: a case report.

Sudden arousal from sleep causes a transient surge in sympathetic nervous activity. Repeated arousals, as occur in obstructive sleep apnea (OSA), are well documented to cause a more prolonged sympathetic overactivity and consequent elevations in 24-h urinary catecholamine levels. We describe here a series of five patients, each presenting with a clinical and biochemical picture indistinguishable from that of pheochromocytoma.

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Williams-Beuren syndrome (WBS) is a developmental disorder with characteristic physical, cognitive and behavioural traits caused by a microdeletion of approximately 1.5 Mb on chromosome 7q11.23.

Attitudes toward preventive oophorectomy among BRCA1 mutation carriers in Poland.

Currently genetic testing for BRCA1 and BRCA2 susceptibility genes is performed throughout Europe and North America. In Poland three founder mutations in BRCA1 account for 14% of all invasive ovarian cancers and oophorectomy is frequently recommended to mutation carriers as a preventive measure. The purpose of the present study was to evaluate patient acceptance of the recommendation for prophylactic oophorectomy in a hereditary cancer clinic.

Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type.

Purpose: BRCA1-related breast cancers are more frequently estrogen receptor (ER) negative than are either BRCA2-related or nonhereditary breast cancers. The relationship between ER status and other clinical features of hereditary breast cancers has not been well studied.

Experimental Design: ER status, grade, and histological tumor type were evaluated in 1131 women with invasive breast cancer, ascertained at 10 centers in North America.