Value-based genomic screening. Exploring genomic screening for chronic diseases using triple value principles

Background: Genomic screening has unique challenges which makes it difficult to easily implement on a wide scale. If the costs, benefits and tradeoffs of investing in genomic screening are not evaluated properly, there is a risk of wasting finite healthcare resources and also causing avoidable harm. Main text: If healthcare professionals - including policy makers, payers and providers - wish to incorporate genomic screening into healthcare while minimizing waste, maximizing benefits, and considering results that matter to patients, using the principles of triple value (allocative, technical, and personal value) could help them to evaluate tough decisions and tradeoffs. Allocative value focuses on the optimal distribution of limited healthcare resources to maximize the health benefits to the entire population while also accounting for all the costs of care delivery. Technical value ensures that for any given condition, the right intervention is chosen and delivered in the right way. Various methods (e.g. ACCE, HTA, and Wilson and Jungner screening criteria) exist that can help identify appropriate genomic applications. Personal value incorporates preference based informed decision making to ensure that patients are informed about the benefits and harms of the choices available to them and to ensure they make choices based on their values and preferences. Conclusions: Using triple value principles can help healthcare professionals make reasoned and tough judgements about benefits and tradeoffs when they are exploring the role genomic screening for chronic diseases could play in improving the health of their patients and populations

A partition functional and thermodynamic properties of the infinite-dimensional Hubbard model

An approximate partition functional is derived for the infinite-dimensional Hubbard model. This functional naturally includes the exact solution of the Falicov-Kimball model as a special case, and is exact in the uncorrelated and atomic limits. It explicitly keeps spin-symmetry. For the case of the Lorentzian density of states, we find that the Luttinger theorem is satisfied at zero temperature. The susceptibility crosses over smoothly from that expected for an uncorrelated state with antiferromagnetic fluctuations at high temperature to a correlated state at low temperature via a Kondo-type anomaly at a characteristic temperature $T^\star$. We attribute this anomaly to the appearance of the Hubbard pseudo-gap. The specific heat also shows a peak near $T^\star$. The resistivity goes to zero at zero temperature, in contrast to other approximations, rises sharply around $T^\star$ and has a rough linear temperature dependence above $T^\star$.Comment: 18 pages, 6 figures upon request, latex, (to appear in Phys. Rev. B

Riparian zones increase regional species richness by harboring different, not more, species

Riparian zones are habitats of critical conservation concern worldwide, as they are known to filter agricultural contaminants, buffer landscapes against erosion, and provide habitat for high numbers of species. Here we test the generality of the notion that riparian habitats harbor more species than adjacent upland habitats. Using previously published data collected from seven continents and including taxa ranging from Antarctic soil invertebrates to tropical rain forest lianas and primates, we show that riparian habitats do not harbor higher numbers of species, but rather support significantly different species pools altogether. In this way, riparian habitats increase regional (γ-) richness across the globe by >50%, on average. Thus conservation planners can easily increase the number of species protected in a regional portfolio by simply including a river within terrestrial biodiversity reserves. Our analysis also suggests numerous possible improvements for future studies of species richness gradients across riparian and upland habitats. First, <15% of the studies in our analysis included estimates of more than one taxonomic group of interest. Second, within a given taxonomic group, studies employed variable methodologies and sampling areas in pursuit of richness and turnover estimates. Future analyses of species richness patterns in watersheds should aim to include a more comprehensive suite of taxonomic groups and should measure richness at multiple spatial scales

Reply: Benefit of genome-wide prenatal cfDNAtesting requires further investigation through acase–control study.

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Quasisymmetric graphs and Zygmund functions

A quasisymmetric graph is a curve whose projection onto a line is a quasisymmetric map. We show that this class of curves is related to solutions of the reduced Beltrami equation and to a generalization of the Zygmund class $\Lambda_*$. This relation makes it possible to use the tools of harmonic analysis to construct nontrivial examples of quasisymmetric graphs and of quasiconformal maps.Comment: 21 pages, no figure

Doubly connected minimal surfaces and extremal harmonic mappings

The concept of a conformal deformation has two natural extensions: quasiconformal and harmonic mappings. Both classes do not preserve the conformal type of the domain, however they cannot change it in an arbitrary way. Doubly connected domains are where one first observes nontrivial conformal invariants. Herbert Groetzsch and Johannes C. C. Nitsche addressed this issue for quasiconformal and harmonic mappings, respectively. Combining these concepts we obtain sharp estimates for quasiconformal harmonic mappings between doubly connected domains. We then apply our results to the Cauchy problem for minimal surfaces, also known as the Bjorling problem. Specifically, we obtain a sharp estimate of the modulus of a doubly connected minimal surface that evolves from its inner boundary with a given initial slope.Comment: 35 pages, 2 figures. Minor edits, references adde

Uncovering treatment burden as a key concept for stroke care: a systematic review of qualitative research

&lt;b&gt;Background&lt;/b&gt; Patients with chronic disease may experience complicated management plans requiring significant personal investment. This has been termed ‘treatment burden’ and has been associated with unfavourable outcomes. The aim of this systematic review is to examine the qualitative literature on treatment burden in stroke from the patient perspective.&lt;p&gt;&lt;/p&gt; &lt;b&gt;Methods and findings&lt;/b&gt; The search strategy centred on: stroke, treatment burden, patient experience, and qualitative methods. We searched: Scopus, CINAHL, Embase, Medline, and PsycINFO. We tracked references, footnotes, and citations. Restrictions included: English language, date of publication January 2000 until February 2013. Two reviewers independently carried out the following: paper screening, data extraction, and data analysis. Data were analysed using framework synthesis, as informed by Normalization Process Theory. Sixty-nine papers were included. Treatment burden includes: (1) making sense of stroke management and planning care, (2) interacting with others, (3) enacting management strategies, and (4) reflecting on management. Health care is fragmented, with poor communication between patient and health care providers. Patients report inadequate information provision. Inpatient care is unsatisfactory, with a perceived lack of empathy from professionals and a shortage of stimulating activities on the ward. Discharge services are poorly coordinated, and accessing health and social care in the community is difficult. The study has potential limitations because it was restricted to studies published in English only and data from low-income countries were scarce.&lt;p&gt;&lt;/p&gt; &lt;b&gt;Conclusions&lt;/b&gt; Stroke management is extremely demanding for patients, and treatment burden is influenced by micro and macro organisation of health services. Knowledge deficits mean patients are ill equipped to organise their care and develop coping strategies, making adherence less likely. There is a need to transform the approach to care provision so that services are configured to prioritise patient needs rather than those of health care systems

Trends of HIV-related cancer mortality between 2001 and 2018: an observational analysis

The burden of AIDS-defining cancers has remained relatively steady for the past two decades, whilst the burden of non-AIDS-defining cancer has increased. Here, we conduct a study to describe mortality trends attributed to HIV-associated cancers in 31 countries. We extracted HIV-related cancer mortality data from 2001 to 2018 from the World Health Organization Mortality Database. We computed age-standardized death rates (ASDRs) per 100,000 population using the World Standard Population. Data were visualized using Locally Weighted Scatterplot Smoothing (LOWESS). Data for females were available for 25 countries. Overall, there has been a decrease in mortality attributed to HIV-associated cancers among most of the countries. In total, 18 out of 31 countries (58.0%) and 14 out of 25 countries (56.0%) showed decreases in male and female mortality, respectively. An increasing mortality trend was observed in many developing countries, such as Malaysia and Thailand, and some developed countries, such as the United Kingdom. Malaysia had the greatest increase in male mortality (+495.0%), and Canada had the greatest decrease (-88.5%). Thailand had the greatest increase in female mortality (+540.0%), and Germany had the greatest decrease (-86.0%). At the endpoint year, South Africa had the highest ASDRs for both males (16.8/100,000) and females (19.2/100,000). The lowest was in Japan for males (0.07/100,000) and Egypt for females (0.028/100,000)