Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder

Development and characterization of phytosterol-enriched oil microcapsules for foodstuff application

Phytosterols are lipophilic compounds contained in plants and have several biological activities. The use of phytosterols in food fortification is hampered due to their high melting temperature, chalky taste, and low solubility in an aqueous system. Also, phytosterols are easily oxidized and are poorly absorbed by the human body. Formulation engineering coupled with microencapsulation could be used to overcome these problems. The aim of this study was to investigate the feasibility of encapsulating soybean oil enriched with phytosterols by spray-drying using ternary mixtures of health-promoting ingredients, whey protein isolate (WPI), inulin, and chitosan as carrier agents. The effect of different formulations and spray-drying conditions on the microencapsules properties, encapsulation efficiency, surface oil content, and oxidation stability were studied. It was found that spherical WPI-inulin-chitosan phytosterol-enriched soybean oil microcapsules with an average size below 50 μm could be produced with good encapsulation efficiency (85%), acceptable level of surface oil (11%), and water activity (0.2–0.4) that meet industrial requirements. However, the microcapsules showed very low oxidation stability with peroxide values reaching 101.7 meq O2/kg of oil just after production, and further investigations and optimization are required before any industrial application of this encapsulated system

Linking E-Mails and Source Code Using BM25F

Existing approaches to recover links between e-mails and software artifacts are based on text search or text retrieval and reformulate link recovery as a document retrieval problem. We refine and improve such solutions by leveraging the parts of which an e-mail is composed of: header, current message, and previous messages. The relevance of these parts is weighted by a probabilistic approach based on text retrieval. We implemented our novel solution exploiting the BM25F model. The results of an empirical study conducted on a public benchmark indicate that the new approach in many cases outperforms the baseline approaches chosen. In addition, the proposed approach is easy to use and it is accurate enough to be worth the costs it may introduce in the corpus preprocessing and indexing

Linking E-Mails and Source Code with LASCO

Many of the approaches for recovering links be- tween e-mails and software artifacts are based on text search or text retrieval. They reformulate the link recovery as a document retrieval problem. We refine and improve such solutions by leveraging the parts of which an e-mail is composed of: header, current message, and previous messages. The relevance of these parts is weighted by a probabilistic approach based on text retrieval. We implemented our novel solution exploiting the BM25F model. The approach has been implemented in an Eclipse plug-in named LASCO (Linking e-mAils and Source Code). We present that plug-in in this tool demonstration paper

Functional dark chocolate with microencapsulated phytosterols: Effect of phytosterols concentration and health claim information on consumers liking

The development of functional foods containing bioactive agents can be considered one of the most interesting topics in food research. Furthermore, probiotic chocolates and prebiotic chocolates are getting more attention. In order to improve the stability of bioactive agents as well as their bioavailability and efficacy, microencapsulation technique could be used. The aim of this study was to investigate the effect of phytosterols concentration and health claim information on consumer liking of dark chocolate fortified with microencapsulated phytosterols (MPs). In light of this, dark chocolates (85% of cocoa) fortified with 0, 5, 10 and 15% MPs have been produced. The quantitative descriptive analysis (QDA) was performed in order to assess the sensory properties of experimental samples. For the determination of acceptability all samples were evaluated by 120 consumers in two scenarios: blind (no information), and informed (information on phytosterols health claim and their concentration). Willingness to buy (WTB) and willingness to pay (WTP) were also measured. MPs concentrations significantly affected sensory characteristics of dark chocolate with particular reference to appearance attributes (colour intensity, colour uniformity, presence of crystals) and texture attributes (meltingness, adhesiveness, grittiness). Acceptability of MPs blind samples was significantly lower than control blind and results showed that liking scores decreases with increasing concentration of the MPs. After information disclosure, significant differences in the liking categories were observed. The information had a positive effect on liking scores for all samples except for the control samples. In particular, after the information, the liking score of the sample 5 and 10% MPs did not result significantly different from that of control. After information disclosure, panelists testified to a higher WTB and WTP for MPs samples compared to control. The results showed that the success of a new functional product is closely linked to the information reported on the label

Faculty practice: What do the data show? Findings from the NONPF Faculty Practice Survey

This article reports on the findings of the NONPF (National Organization of Nurse Practitioner Faculties) Faculty Practice Survey regarding promotion and tenure. Relevant issues related to tenure for practicing faculty are identified and discussed. Faculty practice has become an increasingly important and complex issue for academic institutions in relation to promotion and tenure. The purpose of this article is to examine the role and patterns of practice among tenured and nontenured faculty in academic nursing institutions and the variables associated with faculty promotion and tenure in these institutions. Method: A survey was mailed to the membership of the National Organization of Nurse Practitioner Faculties to examine the differences between practicing faculty who were tenured and those who were nontenured and to identify predictors of tenure. A 50% response rate (N = 452) was obtained. Findings indicate that only 37% of the practicing faculty were tenured, and more than half (51%) reported that practice was not considered in promotion and tenure decisions at their institutions. The predictors of tenure included practice being considered in promotion and tenure and support for practice at the school of nursing level. Data on reasons faculty practice are also presented. Recommendations for including practice in promotion and tenure guidelines are discussed as well as the ramifications of administrative support for practice. © 2002 Mosby, Inc

The potential of near and mid-infrared spectroscopy for rapid quantification of oleuropein, total phenolics, total flavonoids and antioxidant activity in olive tree (Olea europaea) leaves

Natural foods and food-related antioxidants such as phenolic phytochemicals are of great interest due to their preventive properties against oxidative damage. Olive tree leaves contain high quality and amount of phenolic compounds including oleuropein and therefore considered as nutraceutically valuable materials. The composition of olive leaves, its phenolics and antioxidant power are influenced by numerous factors causing great variation among samples. Additionally, traditionalanalytical methods performed to quantify these parameters in each product entail long and complicated sample preparation procedures, the use of toxic chemicals, skilled labors, instrumentation and sophisticated laboratory conditions. One appealing alternative is the use of infrared spectroscopy since it gives information about the food composition quickly and it is amulti-parametric and environmentally friendly choice. Therefore, we investigated the oleuropein, total phenolic content, total flavonoid content and antioxidant activity levels of 23 common cultivars of olive leaves harvested from Turkey and Italy using traditional reference methods and also developed near and mid-infrared based partial least squares regression (PLSR) models to predict these parameters without the need of sample preparation. Internal validations of the PLSR calibration models were done using full cross-validation and yielded very high correlation coefficients (≥ 0.95) and low errors in predictions (% standard error of cross-validation for parameters were lower than 7.54%). The levels of all the parameters of interest could be successfully predicted using both NIR and MIR instrumentation within seconds. Overall, infrared spectroscopy along with chemometrics exhibited great potential for future olive leave studies

Faculty practice: What do the data show? Findings from the NONPF Faculty Practice Survey

This article reports on the findings of the NONPF (National Organization of Nurse Practitioner Faculties) Faculty Practice Survey regarding promotion and tenure. Relevant issues related to tenure for practicing faculty are identified and discussed. Faculty practice has become an increasingly important and complex issue for academic institutions in relation to promotion and tenure. The purpose of this article is to examine the role and patterns of practice among tenured and nontenured faculty in academic nursing institutions and the variables associated with faculty promotion and tenure in these institutions. Method: A survey was mailed to the membership of the National Organization of Nurse Practitioner Faculties to examine the differences between practicing faculty who were tenured and those who were non-tenured and to identify predictors of tenure. A 50% response rate (N = 452) was obtained. Findings indicate that only 37% of the practicing faculty were tenured, and more than half (51%) reported that practice was not considered in promotion and tenure decisions at their institutions. The predictors of tenure included practice being considered in promotion and tenure and support for practice at the school of nursing level. Data on reasons faculty practice are also presented. Recommendations for including practice in promotion and tenure guidelines are discussed as well as the ramifications of administrative support for practice. © 2002 Mosby, Inc. All rights reserved