Complex genetic association of 6q23 with autoimmune rheumatic conditions

In the paper by Dieguez-Gonzalez and colleagues in the present issue of Arthritis Research & Therapy, the results of a detailed genetic investigation of the recently identified rheumatoid arthritis and systemic lupus erythematosus susceptibility region at 6q23 containing the TNFAIP3 gene are reported. Their data confirm the complex nature of the association involving both the TNFAIP3 locus and a region >150 kb upstream that does not encode any known gene. These data are consistent with recent studies of systemic lupus erythematosus susceptibility confirming the presence of several independent genetic contributions to autoimmune rheumatic diseases arising from 6q23

Testing Linear-Invariant Non-Linear Properties

We consider the task of testing properties of Boolean functions that are invariant under linear transformations of the Boolean cube. Previous work in property testing, including the linearity test and the test for Reed-Muller codes, has mostly focused on such tasks for linear properties. The one exception is a test due to Green for "triangle freeness": a function f:\cube^{n}\to\cube satisfies this property if $f(x),f(y),f(x+y)$ do not all equal 1, for any pair x,y\in\cube^{n}. Here we extend this test to a more systematic study of testing for linear-invariant non-linear properties. We consider properties that are described by a single forbidden pattern (and its linear transformations), i.e., a property is given by $k$ points v_{1},...,v_{k}\in\cube^{k} and f:\cube^{n}\to\cube satisfies the property that if for all linear maps L:\cube^{k}\to\cube^{n} it is the case that $f(L(v_{1})),...,f(L(v_{k}))$ do not all equal 1. We show that this property is testable if the underlying matroid specified by $v_{1},...,v_{k}$ is a graphic matroid. This extends Green's result to an infinite class of new properties. Our techniques extend those of Green and in particular we establish a link between the notion of "1-complexity linear systems" of Green and Tao, and graphic matroids, to derive the results.Comment: This is the full version; conference version appeared in the proceedings of STACS 200

The critical window for the classical Ramsey-Tur\'an problem

The first application of Szemer\'edi's powerful regularity method was the following celebrated Ramsey-Tur\'an result proved by Szemer\'edi in 1972: any K_4-free graph on N vertices with independence number o(N) has at most (1/8 + o(1)) N^2 edges. Four years later, Bollob\'as and Erd\H{o}s gave a surprising geometric construction, utilizing the isoperimetric inequality for the high dimensional sphere, of a K_4-free graph on N vertices with independence number o(N) and (1/8 - o(1)) N^2 edges. Starting with Bollob\'as and Erd\H{o}s in 1976, several problems have been asked on estimating the minimum possible independence number in the critical window, when the number of edges is about N^2 / 8. These problems have received considerable attention and remained one of the main open problems in this area. In this paper, we give nearly best-possible bounds, solving the various open problems concerning this critical window.Comment: 34 page

The use of routine outcome measures in two child and adolescent mental health services: a completed audit cycle

Background: Routine outcome measurement (ROM) is important for assessing the clinical effectiveness of health services and for monitoring patient outcomes. Within Child and Adolescent Mental Health Services (CAMHS) in the UK the adoption of ROM in CAMHS has been supported by both national and local initiatives (such as government strategies, local commissioning policy, and research). Methods: With the aim of assessing how these policies and initiatives may have influenced the uptake of ROM within two different CAMHS we report the findings of two case-note audits: a baseline audit conducted in January 2011 and a re-audit conducted two years later in December 2012-February 2013. Results: The findings show an increase in both the single and repeated use of outcome measures from the time of the original audit, with repeated use (baseline and follow-up) of the Health of the Nation Outcome Scale for Children and Adolescents (HoNOSCA) scale increasing from 10% to 50% of cases. Re-audited case-notes contained more combined use of different outcome measures, with greater consensus on which measures to use. Outcome measures that were applicable across a wide range of clinical conditions were more likely to be used than symptom-specific measures, and measures that were completed by the clinician were found more often than measures completed by the service user. Conclusions: The findings show a substantial improvement in the use of outcome measures within CAMHS. These increases in use were found across different service organisations which were subject to different types of local service priorities and drivers

A Hypergraph Dictatorship Test with Perfect Completeness

A hypergraph dictatorship test is first introduced by Samorodnitsky and Trevisan and serves as a key component in their unique games based \PCP construction. Such a test has oracle access to a collection of functions and determines whether all the functions are the same dictatorship, or all their low degree influences are $o(1).$ Their test makes $q\geq3$ queries and has amortized query complexity $1+O(\frac{\log q}{q})$ but has an inherent loss of perfect completeness. In this paper we give an adaptive hypergraph dictatorship test that achieves both perfect completeness and amortized query complexity $1+O(\frac{\log q}{q})$.Comment: Some minor correction

An examination of autism spectrum traits in adolescents with anorexia nervosa and their parents

There may be a link between anorexia nervosa and autism spectrum disorders. The aims of this study were to examine whether adolescents with anorexia nervosa have autism spectrum and/or obsessive-compulsive traits, how many would meet diagnostic criteria for autism spectrum disorder, and whether these traits are shared by parents

An examination of the clinical outcomes of adolescents and young adults with broad autism spectrum traits and autism spectrum disorder and anorexia nervosa: A multi centre study

Objectives: To compare the clinical outcomes of adolescents and young adults with anorexia nervosa (AN) comorbid with broad autism spectrum disorder (ASD) or ASD traits. Method: The developmental and well‐being assessment and social aptitude scale were used to categorize adolescents and young adults with AN (N = 149) into those with ASD traits (N = 23), and those who also fulfilled diagnostic criteria for a possible/probable ASD (N = 6). We compared both eating disorders specific measures and broader outcome measures at intake and 12 months follow‐up. Results: Those with ASD traits had significantly more inpatient/day‐patient service use (p = .015), as well as medication use (p < .001) at baseline. Both groups had high social difficulties and poorer global functioning (strengths and difficulties questionnaire) at baseline, which improved over time but remained higher at 12 months in the ASD traits group (p = .002). However, the improvement in eating disorder symptoms at 12 months was similar between groups with or without ASD traits. Treatment completion rates between AN only and ASD traits were similar (80.1 vs. 86.5%). Discussion: Adolescents with AN and ASD traits show similar reductions in their eating disorder symptoms. Nevertheless, their social difficulties remain high suggesting that these are life‐long difficulties rather than starvation effects

On certain other sets of integers

We show that if A is a subset of {1,...,N} containing no non-trivial three-term arithmetic progressions then |A|=O(N/ log^{3/4-o(1)} N).Comment: 29 pp. Corrected typos. Added definitions for some non-standard notation and remarks on lower bound

Label-free electrochemical monitoring of DNA ligase activity

This study presents a simple, label-free electrochemical technique for the monitoring of DNA ligase activity. DNA ligases are enzymes that catalyze joining of breaks in the backbone of DNA and are of significant scientific interest due to their essential nature in DNA metabolism and their importance to a range of molecular biological methodologies. The electrochemical behavior of DNA at mercury and some amalgam electrodes is strongly influenced by its backbone structure, allowing a perfect discrimination between DNA molecules containing or lacking free ends. This variation in electrochemical behavior has been utilized previously for a sensitive detection of DNA damage involving the sugar-phosphate backbone breakage. Here we show that the same principle can be utilized for monitoring of a reverse process, i.e., the repair of strand breaks by action of the DNA ligases. We demonstrate applications of the electrochemical technique for a distinction between ligatable and unligatable breaks in plasmid DNA using T4 DNA ligase, as well as for studies of the DNA backbone-joining activity in recombinant fragments of E. coli DNA ligase

Bounds for graph regularity and removal lemmas

We show, for any positive integer k, that there exists a graph in which any equitable partition of its vertices into k parts has at least ck^2/\log^* k pairs of parts which are not \epsilon-regular, where c,\epsilon>0 are absolute constants. This bound is tight up to the constant c and addresses a question of Gowers on the number of irregular pairs in Szemer\'edi's regularity lemma. In order to gain some control over irregular pairs, another regularity lemma, known as the strong regularity lemma, was developed by Alon, Fischer, Krivelevich, and Szegedy. For this lemma, we prove a lower bound of wowzer-type, which is one level higher in the Ackermann hierarchy than the tower function, on the number of parts in the strong regularity lemma, essentially matching the upper bound. On the other hand, for the induced graph removal lemma, the standard application of the strong regularity lemma, we find a different proof which yields a tower-type bound. We also discuss bounds on several related regularity lemmas, including the weak regularity lemma of Frieze and Kannan and the recently established regular approximation theorem. In particular, we show that a weak partition with approximation parameter \epsilon may require as many as 2^{\Omega(\epsilon^{-2})} parts. This is tight up to the implied constant and solves a problem studied by Lov\'asz and Szegedy.Comment: 62 page