BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer

BACKGROUND: To define the incidence of BRCA1 mutations among patients seen in clinics that evaluate the risk of breast cancer, we analyzed DNA samples from women seen in this setting and constructed probability tables to provide estimates of the likelihood of finding a BRCA1 mutation in individual families. METHODS: Clinical information, family histories, and blood for DNA analysis were obtained from 263 women with breast cancer. Conformation-sensitive gel electrophoresis and DNA sequencing were used to identify BRCA1 mutations. RESULTS: BRCA1 mutations were identified in 16 percent of women with a family history of breast cancer. Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations. The rates were higher among women from families with a history of both breast and ovarian cancer. Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation. No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family. CONCLUSIONS: Among women with breast cancer and a family history of the disease, the percentage with BRCA1 coding-region mutations is less than the 45 percent predicted by genetic-linkage analysis. These results suggest that even in a referral clinic specializing in screening women from high-risk families, the majority of tests for BRCA1 mutations will be negative and therefore uninformative.     

Persönlichkeit 2.0

Online Social Networks (OSNs) wie MySpace, Facebook und StudiVZ sind inzwischen zu einem wichtigen Bestandteil des allt?glichen Miteinanders geworden. Entgegen der weit verbreiteten Meinung vermitteln Profile in OSNs kein verf?lschtes, selbstidealisiertes, sondern ein sehr genaues Bild von der Pers?nlichkeit der Profilbesitzer. Dies k?nnte ein wichtiger Grund für die Beliebtheit sozialer Netzwerke sein: Sie bieten eine Plattform für reale soziale Interaktionen und erm?glichen den Ausdruck der eigenen Pers?nlichkeit. Implikationen für den Datenschutz in OSNs werden diskutiert.     

Prostaglandins compared with oxytocin for induction of labour at term (author's transl)

12 cases of induction of labour with prostaglandin F2 alpha and 8 with prostaglandin E2 were compared with 14 cases in which induction was undertaken with oxytocin. All inductions were successful, the induction--delivery intervals being slightly shorter in the prostaglandin groups than in the oxytocin group. Both with prostaglandin F2 alpha and with prostaglandin E2 the cardiotocogram showed uterine hyperactivity in most of the cases with an unexpected, episodically-occurring increase in basal uterine tone and remarkable tachysystoly. Uterine hyper-activity led to fetal heart rate alterations of the "dip 2" type in about 50% of the cases. According to these results prostaglandins cannot be considered superior to oxytocin for the induction of labour at term.     

Establishing a cancer risk evaluation program

Most of the clinical, histological and immunohistological features of fogo selvagem resemble those of idiopathic pemphigus foliaceus (PF). Both diseases are clinically characterized by small flaccid bullae evolving into to scaly and crusted lesions, sometimes with pustules, mainly in seborrheic areas of the skin. Mucosal surfaces are mostly spared. The main histologic feature of endemic pemphigus foliaceus is a subcorneal acantholytic blister. Standard immunofluorescence studies demonstrate intercellular IgG deposits throughout the entire epidermis. These IgG antibodies are mainly of the IgG4-subclass. Almost all patients have circulating IgG-autoantibodies in their serum directed against stratified epithelial desmosomes. The fogo selvagem autoantibodies and the PF antibodies are directed against the 160 kD desmosomal glycoprotein desmoglein 1 which together with plakoglobin (85 kD) forms a complex of adhesion proteins with desmosomes of stratified epithelia. Fogo selvagem occurs in endemic foci in some areas of Brazil and possibly in neighbouring South American countries, very often in children, adolescents and young adults. The etiology of fogo selvagem is still unknown. The frequent association with insect bites has lead to the concept of fogo selvagem being a transmissible disease with acquired immunity in adulthood. However, the infectious agent and possible vectors have not yet been identified.     

Quantitative analysis of the relation between gill amplitude and siphon duration in the defensive withdrawal reflex of Aplysia..

The defensive withdrawal reflex of the mantle organs (gill, siphon, and mantle shelf) of the marine mollusc Aplysia californica has been the subject of numerous studies investigating the cellular and molecular mechanisms of learning. In behavioral experiments, the reflex has been monitored by means of two different response measures, either siphon duration (in unrestrained, freely moving animals) or gill amplitude (in restrained preparations). It has generally been assumed that one component of the reflex provides a reliable index of the other. In the present study, we directly tested this assumption by simultaneously measuring both response parameters in the same experiment. Reflex response magnitude was varied in two ways: (a) by systematically varying stimulus intensity, and (b) by holding the stimulus intensity constant, but delivering stimuli at a rate that produced significant habituation. Using both measures we found that gill amplitude and siphon duration were highly correlated (average correlation?=?.90). (PsycINFO Database Record (c) 2010 APA, all rights reserved)