Case report: BRCA in the Ashkenazi population: are current testing guidelines too exclusive?

The BRCA1/2 genes account for a significant portion of hereditary breast and ovarian cancers and they are especially prevalent in the Ashkenazi Jewish population. Women who have a mutation can prevent breast and ovarian cancer with surgical intervention. We describe an Ashkenazi Jewish patient who illustrates that current testing criteria are too restrictive, particularly for this population of patients. The patient's sister was diagnosed with breast cancer at age 33; however, she was not a mutation carrier. Based on practice guidelines, the patient was not recommended genetic testing. She subsequently underwent direct-to-consumer (DTC) testing and discovered that she was a mutation carrier. This case demonstrates the need for clinicians to be aware of the higher prevalence of BRCA mutations in the Ashkenazi population. It also exemplifies the need to involve medical professionals, including genetic counselors, in the dissemination of DNA test results

Scale-free Networks from Optimal Design

A large number of complex networks, both natural and artificial, share the presence of highly heterogeneous, scale-free degree distributions. A few mechanisms for the emergence of such patterns have been suggested, optimization not being one of them. In this letter we present the first evidence for the emergence of scaling (and smallworldness) in software architecture graphs from a well-defined local optimization process. Although the rules that define the strategies involved in software engineering should lead to a tree-like structure, the final net is scale-free, perhaps reflecting the presence of conflicting constraints unavoidable in a multidimensional optimization process. The consequences for other complex networks are outlined.Comment: 6 pages, 2 figures. Submitted to Europhysics Letters. Additional material is available at http://complex.upc.es/~sergi/software.ht

Building the field of health policy and systems research: framing the questions.

In the first of a series of articles addressing the current challenges and opportunities for the development of Health Policy & Systems Research (HPSR), Kabir Sheikh and colleagues lay out the main questions vexing the field

Forty years studying British politics : the decline of Anglo-America

The still present belief some 40 years ago that British politics was both exceptional and superior has been replaced by more theoretically sophisticated analyses based on a wider and more rigorously deployed range of research techniques, although historical analysis appropriately remains important. The American influence on the study of British politics has declined, but the European Union dimension has not been fully integrated. The study of interest groups has been in some respects a fading paradigm, but important questions related to democratic health have still to be addressed. Public administration has been supplanted by public policy, but economic policy remains under-studied. A key challenge for the future is the study of the management of expectations

Adaptation to Delayed Force Perturbations in Reaching Movements

Adaptation to deterministic force perturbations during reaching movements was extensively studied in the last few decades. Here, we use this methodology to explore the ability of the brain to adapt to a delayed velocity-dependent force field. Two groups of subjects preformed a standard reaching experiment under a velocity dependent force field. The force was either immediately proportional to the current velocity (Control) or lagged it by 50 ms (Test). The results demonstrate clear adaptation to the delayed force perturbations. Deviations from a straight line during catch trials were shifted in time compared to post-adaptation to a non-delayed velocity dependent field (Control), indicating expectation to the delayed force field. Adaptation to force fields is considered to be a process in which the motor system predicts the forces to be expected based on the state that a limb will assume in response to motor commands. This study demonstrates for the first time that the temporal window of this prediction needs not to be fixed. This is relevant to the ability of the adaptive mechanisms to compensate for variability in the transmission of information across the sensory-motor system

Bacteremia After Prophylaxis II

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/141639/1/jper0371.pd

Is Violent Radicalisation Associated with Poverty, Migration, Poor Self-Reported Health and Common Mental Disorders?

BACKGROUND: Doctors, lawyers and criminal justice agencies need methods to assess vulnerability to violent radicalization. In synergy, public health interventions aim to prevent the emergence of risk behaviours as well as prevent and treat new illness events. This paper describes a new method of assessing vulnerability to violent radicalization, and then investigates the role of previously reported causes, including poor self-reported health, anxiety and depression, adverse life events, poverty, and migration and socio-political factors. The aim is to identify foci for preventive intervention. METHODS: A cross-sectional survey of a representative population sample of men and women aged 18-45, of Muslim heritage and recruited by quota sampling by age, gender, working status, in two English cities. The main outcomes include self-reported health, symptoms of anxiety and depression (common mental disorders), and vulnerability to violent radicalization assessed by sympathies for violent protest and terrorist acts. RESULTS: 2.4% of people showed some sympathy for violent protest and terrorist acts. Sympathy was more likely to be articulated by the under 20s, those in full time education rather than employment, those born in the UK, those speaking English at home, and high earners (>£75,000 a year). People with poor self-reported health were less likely to show sympathies for violent protest and terrorism. Anxiety and depressive symptoms, adverse life events and socio-political attitudes showed no associations. CONCLUSIONS: Sympathies for violent protest and terrorism were uncommon among men and women, aged 18-45, of Muslim heritage living in two English cities. Youth, wealth, and being in education rather than employment were risk factors

PEArL: a systems approach to demonstrating authenticity in information systems design

The process of information systems (IS) design has been dominated by the demands inherent in providing a technical solution to a perceived problem or need. Engineering IS design methods applied in order to satisfy the problem situation tend to have a preoccupation with verifying specifications as being mathematically correct. Diffculties arise when the ideas underpinning verification are extended in an attempt to ‘prove’ the validity of a proposed design for an IS. A pure engineering approach does not facilitate a response to the subjective elements within social situations, which experience has shown to be essential in demonstrating the pertinence of new designs to those concerned. We suggest that, by applying interpretivist systems ideas, it is possible to support concerned individuals in reflecting upon crucial aspects of the inquiry, enabling those individuals to judge the relevance or ‘authenticity’ of the learning, according to their own values and beliefs. The elements of participants, engagement, authority, relationships and learning are suggested as being crucial. These make up the mnemonic PEArL, which is offered as an aide-mémoire for those concerned with IS design

Temperature stress differentially modulates transcription in meiotic anthers of heat-tolerant and heat-sensitive tomato plants

Contains fulltext : 92405.pdf (publisher's version ) (Open Access