Genetic and Environmental Contributions to Body Mass Index: Comparative Analysis of Monozygotic Twins, Dizygotic Twins and Same-Age Unrelated Siblings

Background—Earlier studies have established that a substantial percentage of variance in obesity-related phenotypes is explained by genetic components. However, only one study has used both virtual twins (VTs) and biological twins and was able to simultaneously estimate additive genetic, non-additive genetic, shared environmental and unshared environmental components in body mass index (BMI). Our current goal was to re-estimate four components of variance in BMI, applying a more rigorous model to biological and virtual multiples with additional data. Virtual multiples share the same family environment, offering unique opportunities to estimate common environmental influence on phenotypes that cannot be separated from the non-additive genetic component using only biological multiples. Methods—Data included 929 individuals from 164 monozygotic twin pairs, 156 dizygotic twin pairs, five triplet sets, one quadruplet set, 128 VT pairs, two virtual triplet sets and two virtual quadruplet sets. Virtual multiples consist of one biological child (or twins or triplets) plus one same-aged adoptee who are all raised together since infancy. We estimated the additive genetic, non-additive genetic, shared environmental and unshared random components in BMI using a linear mixed model. The analysis was adjusted for age, age2, age3, height, height2, height3, gender and race. Results—Both non-additive genetic and common environmental contributions were significant in our model (P-values \u3c 0.0001). No significant additive genetic contribution was found. In all, 63.6% (95% confidence interval (CI) 51.8–75.3%) of the total variance of BMI was explained by a non-additive genetic component, 25.7% (95% CI 13.8–37.5%) by a common environmental component and the remaining 10.7% by an unshared component. Conclusion—Our results suggest that genetic components play an essential role in BMI and that common environmental factors such as diet or exercise also affect BMI. This conclusion is consistent with our earlier study using a smaller sample and shows the utility of virtual multiples for separating non-additive genetic variance from common environmental variance

A systematic review of evidence on the association between hospitalisation for chronic disease related ambulatory care sensitive conditions and primary health care resourcing

Background: Primary health care is recognised as an integral part of a country's health care system. Measuring hospitalisations, that could potentially be avoided with high quality and accessible primary care, is one indicator of how well primary care services are performing. This review was interested in the association between chronic disease related hospitalisations and primary health care resourcing. Methods: Studies were included if peer reviewed, written in English, published between 2002 and 2012, modelled hospitalisation as a function of PHC resourcing and identified hospitalisations for type 2 diabetes as a study outcome measure. Access and use of PHC services were used as a proxy for PHC resourcing. Studies in populations with a predominant user pay system were excluded to eliminate patient financial barriers to PHC access and utilisation. Articles were systematically excluded based on the inclusion criteria, to arrive at the final set of studies for review. Results: The search strategy identified 1778 potential articles using EconLit, Medline and Google Scholar databases. Ten articles met the inclusion criteria and were subject to review. PHC resources were quantified by workforce (either medical or nursing) numbers, number of primary care episodes, service availability (e.g. operating hours), primary care practice size (e.g. single or group practitioner practice--a larger practice has more care disciplines onsite), or financial incentive to improve quality of diabetes care. The association between medical workforce numbers and ACSC hospitalisations was mixed. Four of six studies found that less patients per doctor was significantly associated with a decrease in ambulatory care sensitive hospitalisations, one study found the opposite and one study did not find a significant association between the two. When results were categorised by PHC access (e.g. GPs/capita, range of services) and use (e.g. n out-patient visits), better access to quality PHC resulted in fewer ACSC hospitalisations. This finding remained when only studies that adjusted for health status were categorised. Financial incentives to improve the quality of diabetes care were associated with less ACSC hospitalisations, reported in one study. Conclusion: Seven of 12 measures of the relationship between PHC resourcing and ACSC hospitalisations had a significant inverse association. As a collective body of evidence the studies provide inconclusive support that more PHC resourcing is associated with reduced hospitalisation for ACSC. Characteristics of improved or increased PHC access showed inverse significant associations with fewer ACSC hospitalisations after adjustment for health status. The varied measures of hospitalisation, PHC resourcing, and health status may contribute to inconsistent findings among studies and make it difficult to interpret findings.Odette R Gibson, Leonie Segal and Robyn A McDermot

Thermal transistor: Heat flux switching and modulating

Thermal transistor is an efficient heat control device which can act as a heat switch as well as a heat modulator. In this paper, we study systematically one-dimensional and two-dimensional thermal transistors. In particular, we show how to improve significantly the efficiency of the one-dimensional thermal transistor. The study is also extended to the design of two-dimensional thermal transistor by coupling different anharmonic lattices such as the Frenkel-Kontorova and the Fermi-Pasta-Ulam lattices. Analogy between anharmonic lattices and single-walled carbon nanotube is drawn and possible experimental realization with multi-walled nanotube is suggested.Comment: To appear in J. Phys. Soc. Jp

Evidence-based decision support for pediatric rheumatology reduces diagnostic errors.

BACKGROUND: The number of trained specialists world-wide is insufficient to serve all children with pediatric rheumatologic disorders, even in the countries with robust medical resources. We evaluated the potential of diagnostic decision support software (DDSS) to alleviate this shortage by assessing the ability of such software to improve the diagnostic accuracy of non-specialists. METHODS: Using vignettes of actual clinical cases, clinician testers generated a differential diagnosis before and after using diagnostic decision support software. The evaluation used the SimulConsult® DDSS tool, based on Bayesian pattern matching with temporal onset of each finding in each disease. The tool covered 5405 diseases (averaging 22 findings per disease). Rheumatology content in the database was developed using both primary references and textbooks. The frequency, timing, age of onset and age of disappearance of findings, as well as their incidence, treatability, and heritability were taken into account in order to guide diagnostic decision making. These capabilities allowed key information such as pertinent negatives and evolution over time to be used in the computations. Efficacy was measured by comparing whether the correct condition was included in the differential diagnosis generated by clinicians before using the software ( unaided ), versus after use of the DDSS ( aided ). RESULTS: The 26 clinicians demonstrated a significant reduction in diagnostic errors following introduction of the software, from 28% errors while unaided to 15% using decision support (p \u3c 0.0001). Improvement was greatest for emergency medicine physicians (p = 0.013) and clinicians in practice for less than 10 years (p = 0.012). This error reduction occurred despite the fact that testers employed an open book approach to generate their initial lists of potential diagnoses, spending an average of 8.6 min using printed and electronic sources of medical information before using the diagnostic software. CONCLUSIONS: These findings suggest that decision support can reduce diagnostic errors and improve use of relevant information by generalists. Such assistance could potentially help relieve the shortage of experts in pediatric rheumatology and similarly underserved specialties by improving generalists\u27 ability to evaluate and diagnose patients presenting with musculoskeletal complaints. TRIAL REGISTRATION: ClinicalTrials.gov ID: NCT02205086

Crossings, Motzkin paths and Moments

Kasraoui, Stanton and Zeng, and Kim, Stanton and Zeng introduced certain $q$-analogues of Laguerre and Charlier polynomials. The moments of these orthogonal polynomials have combinatorial models in terms of crossings in permutations and set partitions. The aim of this article is to prove simple formulas for the moments of the $q$-Laguerre and the $q$-Charlier polynomials, in the style of the Touchard-Riordan formula (which gives the moments of some $q$-Hermite polynomials, and also the distribution of crossings in matchings). Our method mainly consists in the enumeration of weighted Motzkin paths, which are naturally associated with the moments. Some steps are bijective, in particular we describe a decomposition of paths which generalises a previous construction of Penaud for the case of the Touchard-Riordan formula. There are also some non-bijective steps using basic hypergeometric series, and continued fractions or, alternatively, functional equations.Comment: 21 page

On Darboux-Treibich-Verdier potentials

It is shown that the four-parameter family of elliptic functions $$u_D(z)=m_0(m_0+1)\wp(z)+\sum_{i=1}^3 m_i(m_i+1)\wp(z-\omega_i)$$ introduced by Darboux and rediscovered a hundred years later by Treibich and Verdier, is the most general meromorphic family containing infinitely many finite-gap potentials.Comment: 8 page

Automorphism groups of polycyclic-by-finite groups and arithmetic groups

We show that the outer automorphism group of a polycyclic-by-finite group is an arithmetic group. This result follows from a detailed structural analysis of the automorphism groups of such groups. We use an extended version of the theory of the algebraic hull functor initiated by Mostow. We thus make applicable refined methods from the theory of algebraic and arithmetic groups. We also construct examples of polycyclic-by-finite groups which have an automorphism group which does not contain an arithmetic group of finite index. Finally we discuss applications of our results to the groups of homotopy self-equivalences of K(\Gamma, 1)-spaces and obtain an extension of arithmeticity results of Sullivan in rational homotopy theory

Twenty-five years of two-dimensional rational conformal field theory

In this article we try to give a condensed panoramic view of the development of two-dimensional rational conformal field theory in the last twenty-five years.Comment: A review for the 50th anniversary of the Journal of Mathematical Physics. Some references added, typos correcte

Thermodynamic efficiency of information and heat flow

A basic task of information processing is information transfer (flow). Here we study a pair of Brownian particles each coupled to a thermal bath at temperature $T_1$ and $T_2$, respectively. The information flow in such a system is defined via the time-shifted mutual information. The information flow nullifies at equilibrium, and its efficiency is defined as the ratio of flow over the total entropy production in the system. For a stationary state the information flows from higher to lower temperatures, and its the efficiency is bound from above by $\frac{{\rm max}[T_1,T_2]}{|T_1-T_2|}$. This upper bound is imposed by the second law and it quantifies the thermodynamic cost for information flow in the present class of systems. It can be reached in the adiabatic situation, where the particles have widely different characteristic times. The efficiency of heat flow|defined as the heat flow over the total amount of dissipated heat|is limited from above by the same factor. There is a complementarity between heat- and information-flow: the setup which is most efficient for the former is the least efficient for the latter and {\it vice versa}. The above bound for the efficiency can be [transiently] overcome in certain non-stationary situations, but the efficiency is still limited from above. We study yet another measure of information-processing [transfer entropy] proposed in literature. Though this measure does not require any thermodynamic cost, the information flow and transfer entropy are shown to be intimately related for stationary states.Comment: 19 pages, 1 figur

Explorations of the Extended ncKP Hierarchy

A recently obtained extension (xncKP) of the Moyal-deformed KP hierarchy (ncKP hierarchy) by a set of evolution equations in the Moyal-deformation parameters is further explored. Formulae are derived to compute these equations efficiently. Reductions of the xncKP hierarchy are treated, in particular to the extended ncKdV and ncBoussinesq hierarchies. Furthermore, a good part of the Sato formalism for the KP hierarchy is carried over to the generalized framework. In particular, the well-known bilinear identity theorem for the KP hierarchy, expressed in terms of the (formal) Baker-Akhiezer function, extends to the xncKP hierarchy. Moreover, it is demonstrated that N-soliton solutions of the ncKP equation are also solutions of the first few deformation equations. This is shown to be related to the existence of certain families of algebraic identities.Comment: 34 pages, correction of typos in (7.2) and (7.5