Familial hypercholesterolaemia: identification and management. Evidence reviews for case-finding, diagnosis and statin monotherapy

This guideline covers identifying and managing familial hypercholesterolaemia (FH), a specific type of high cholesterol that runs in the family, in children, young people and adults. It aims to help identify people at increased risk of coronary heart disease as a result of having FH. In November 2017, we reviewed the evidence for case finding and diagnosis, identification using cascade testing, and management using statins. We amended recommendations in sections 1.1, 1.2 and 1.3

Genomic analysis of family data reveals additional genetic effects on intelligence and personality

BioRXiv version. Please see https://rubenarslan.github.io/generation_scotland_pedigree_gcta/ to access this website in a browsable form

The Dynamics of the Regulation of Labor in Developing and Developed Countries since 1960

This paper examines both the determinants and the effects of changes in the rigidity of labor market legislation across countries over time. Recent research identifies the origin of the legal system as being a major determinant of the cross-country variation in the rigidity of employment protection legislation. However, the supporting evidence is largely confined to levels of regulation and is almost exclusively based on international cross-section data for the post-1995 period. This paper introduces a new index capturing the rigidity of employment protection legislation (LAMRIG) for an unbalanced panel of more than 140 countries over time starting in 1960. Although the importance of legal origins in explaining the level of rigidity of labor regulations across countries is replicated using LAMRIG, their explanatory power is much weakened for changes over time (1960-2004.) More important as determinants of such changes are the level of development and other reforms such as trade liberalization. With respect to the effects of changes in the rigidity of labor regulations on growth and inequality, which have been very controversial in the literature, results with LAMRIG support Freeman’s conjecture that changes in rigidity do not systematically affect economic growth but do lower income inequality.http://deepblue.lib.umich.edu/bitstream/2027.42/133054/1/wp1037.pd

Evaluation of appendicitis risk prediction models in adults with suspected appendicitis

Background Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis. Methods A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis). Results Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent). Conclusion Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified

Hidden melting signatures recorded in the Troodos ophiolite plutonic suite: evidence for widespread generation of depleted melts and intra-crustal melt aggregation

The main plutonic complex of the Troodos ophiolite, north of the Arakapas Fault Zone, has been re-examined both from field and geochemical perspectives. Ion microprobe analyses of clinopyroxene crystal cores show that the range of melt compositions added to the lower crust far exceeds that of published lavas in the main Troodos massif. This suggests that the lower crust acted as a filter into which a large range of melt compositions were added and out of which a homogenised (and generally fractionated) derivative was extracted. This crustal-level aggregation homogenised diverse melt fractions from a broad range of degrees of melting. Depleted melts with U-shaped rare earth element (REE) patterns were a significant component of the melts added to the crust, but because of their low incompatible element abundances, mixing with less depleted melts prior to eruption masked their signature in the lavas. The discovery that highly depleted melts constituted a significant component of the melts added to the Troodos crust, but not of the lavas, demonstrates that the spatial distribution of lava-types is not necessarily a good indicator of where different parental melt compositions are generated within the mantle. Compared with normal mid-ocean ridge basalts, the Troodos parental melts were (1) generally depleted in immobile incompatible trace elements, (2) less depleted in light REE (LREE) than would be expected for the concomitant depletion in middle and heavy REE, (3) enriched in Sr with respect to the LREE and (4) more oxidised. Modelling of these characteristics suggests a mantle source that had previously lost a significant melt fraction under relatively reducing conditions. This was followed by remelting under more oxidising conditions in an environment in which Sr and LREE were added to the source consistent with previous models of a supra-subduction zone setting