Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.     

The ability of the SCORE high-risk model to predict 10-year cardiovascular disease mortality in Norway.

AIMS: To evaluate the predictive accuracy of the Systematic Coronary Risk Evaluation (SCORE) project high-risk function in Norway. METHODS AND RESULTS: We included 57 229 individuals screened in 1985-1992 from two population-based surveys in Norway (age groups 40-49, 50-59, and 60-69 years). The data have been linked to the Norwegian Cause of Death Registry. The SCORE high-risk algorithm for the prediction of 10-year cardiovascular disease (CVD) mortality was applied, and the risk factors entered into the model were age, sex, total cholesterol, systolic blood pressure, and smoking (yes/no). The number of expected events estimated by the SCORE model (E) was compared with the observed numbers (O). The SCORE low-risk algorithm was studied for comparison. In men, the observed number of CVD deaths was 718, compared with 1464 estimated by the SCORE high-risk function (O/E ratios 0.53, 0.53 and 0.45, for age groups 40-49, 50-59 and 60-69, respectively). In women, the observed and expected numbers were 226 and 547. The O/E ratios decreased with age (ratios 0.60, 0.45 and 0.37, respectively), i.e. the overestimation increased with age. The low-risk function predicted reasonably well for men (ratios 0.85, 0.92 and 0.79, respectively), whereas an overestimation was found for women aged 50-59 and 60-69 years (ratios 0.69 and 0.56, respectively). CONCLUSION: The SCORE high-risk model overestimated the number of CVD deaths in Norway. Before implementation in clinical practice, proper adjustments to national levels are required.     

Endothelial cell antigens recognized by xenoreactive human natural antibodies.

Hyperacute rejection of vascularized, discordant xenografts is generally though to be initiated when natural antibodies of the recipient bind to endothelial cells of the donor organ. While rejection of such xenografts always occurs, the molecular targets of natural antibodies have not been elucidated. The aim of the experiments reported herein was to identify the molecules on porcine endothelial cells that would be recognized by human natural antibodies if a porcine organ were to be transplanted into a human (or rhesus). Toward the end, it was shown that the major components recognized by human serum on porcine endothelial cells are glycoproteins of 115kDa, 125kDa, and 135kDa (gp115/135). Reactivity with these glycoproteins was abrogated by enzymatic cleavage of N-linked oligosaccharides or of subterminal beta-D-gal residues suggesting that the determinants are located on oligosaccharides rather than on the polypeptide cores. The biological relevance of gp115/135 was suggested by experiments in which a similar series of components was shown to be recognized by rhesus natural antibodies and by the absorption of such antibodies by perfusion of porcine kidneys. The gp115/135 antigens were present on porcine platelets but not porcine RBC or lymphocytes. Nevertheless, purified RBC and lymphocytes absorbed human anti-gp115/135, suggesting that human natural antibodies recognize the same or crossreactive carbohydrate determinants expressed on the surface of a variety of cells.     

Production and characterization of monoclonal antibodies to ARVCF

We have generated the first monoclonal antibodies (MAbs) to Armadillo repeat gene deleted in velo-cardiofacial syndrome (ARVCF), a recently identified Armadillo repeat-containing protein closely related to the catenin p120ctn. Six ARVCF-specific MAbs were characterized for isotype, species cross-reactivity, and utility in assays including immunofluorescence, immunoprecipitation, and Western blotting. All six antibodies were isotyped as IgG1 and several cross-reacted with ARVCF from a variety of species including human, rat, dog, and monkey, but not mouse. Importantly, none of the ARVCF MAbs cross-reacted with p120ctn, despite the high homology between these proteins. MAbs 3B2 and 4B1 were consistently the best in all applications and will provide valuable tools for further study of the role of ARVCF in cells.     

Alterations in Breast Cancer Biomarkers Following Neoadjuvant Therapy

Annals of Surgical Oncology - Biomarker changes in patients with residual disease (RD) after neoadjuvant systemic therapy (NAT) have unclear consequences. This study examined the prevalence of...     

Comparison of multiple oncotype DX® from the same patient

For women with breast cancer in whom multiple Oncotype DX^® Recurrence Scores (RS) are obtained, RS concordance utilizing current NCCN recommendations has not been evaluated. Patients with two or more RS were identified. RS were stratified by NCCN guidelines and compared for concordance. Twenty-four patients were evaluated. RS concordance varied by tumor type: 100% in the same tumor, 91.7% in multiple ipsilateral tumors, 71.4% in contralateral tumors, and 66.7% in in-breast recurrent tumors. RS concordance for multiple assays in the same patient is not high enough to omit Oncotype DX^® testing for each tumor.     

How do women interpret abortion information they find online?

ObjectiveWe sought to assess how women interpret the information they find online about the overall safety and risk of infertility associated with abortion and cesarean delivery (CD).MethodsWe conducted an exploratory, prospective study tracking the internet searches of 100 reproductive-aged individuals who identify as women. We directed participants to search for information about either (1) whether surgical abortion or CD is safe or (2) the risk of infertility following surgical abortion or CD. Our data collection had 3 phases: baseline survey, directed internet search, and a postsearch survey. We analyzed participants’ pre- and postsurvey responses using bivariate tests and analyzed within-subject changes. We evaluated the sites they visited based on expert ratings of site content based on trustworthiness and slant.ResultsWomen perceived abortion as safer and less likely to cause infertility after their web searches than before (70% perceived abortion in the United States as very/completely safe presearch vs 92% postsearch; p < 0.02). Women's perceptions about CD did not change. Participants sought information from web pages that experts largely deemed trustworthy and lacking in slant.ConclusionsWomen's perceptions about abortion safety and risk can be influenced by information they find online; perceptions about CD safety and risk may be less influenced by online information.ImplicationsDisseminating high quality, user-friendly abortion information on highly ranked and easily findable websites can help women find evidence-based information and influence knowledge about abortion.