Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain

Mapping the proteo-genomic convergence of human diseases

Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3892 plasma proteins to create a cis-anchored gene-protein-disease map of 1859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to connect etiologically related diseases, to provide biological context for new or emerging disorders, and to integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at loci identified in genome-wide association studies, thereby addressing a major barrier to experimental validation and clinical translation of genetic discoveries

Gender and Management: new directions in research and continuing patterns in practice

This is the author’s version of the following article. The definitive version is available at www.interscience.wiley.com:Adelina Broadbridge and Jeff Hearn, Gender and management: New directions in research and continuing patterns in practice, 2008, British Journal of Management, (19), s1, 38-49. http://dx.doi.org/10.1111/j.1467-8551.2008.00570.xCopyright: British Academy of Management, Blackwell Publishing Ltdhttp://www.blackwellpublishing.com

Touch and contact during COVID-19:Insights from queer digital spaces

The aim of this conceptual paper is to discuss the transformation of socialisation processes due to the digitalisation of entertainment and community formation during COVID-19. More specifically, we focus on alternative modes of touch and contact within the context of queer digital entertainment spaces and question how the world is shaped and sensed in a (post-) COVID-19 era. Inspired by the work of Karen Barad on a quantum theory of queer intimacies, we highlight that the rise of hybridised experiences in-between physical and digital spaces captures a series of spatio-temporal, material and symbolic dimensions of touch and contact. We conclude by drawing implications for the future of organisations and work

Investigation of cerebral autoregulation in the newborn piglet during anaesthesia and surgery

The relationship between cerebral autoregulation (CA) and the neurotoxic effects of anaesthesia with and without surgery is investigated. Newborn piglets were randomly assigned to receive either 6 h of anaesthesia (isoflurane) or the same with an additional hour of minor surgery. The effect of the spontaneous changes in mean arterial blood pressure (MABP) on the cerebral haemodynamics (oxy- and deoxy-haemoglobin, HbO2 and Hb) was measured using transverse broadband near-infrared spectroscopy (NIRS). A marker for impaired CA, concordance between MABP and intravascular oxygenation (HbD = HbO2 - Hb) in the ultra-low frequency domain (0.0018-0.0083 Hz), was assessed using coherence analysis. Presence of CA impairment was not significant but found to increase with surgical exacerbation. The impairment did not correlate with histological outcome (presence of cell death, apoptosis and microglial activation in the brain)

Illicit and Illegal: Sex, Regulation and Social Control

This book is about the surprisingly neglected area of the regulation of sex. It describes and discusses the ways in which various sexual activities are controlled, regulated and made illegal and/or deviant and illicit. Its primary focus is upon the multiple and complex social controls (laws, statutory regulations, professional/occupational codes, normative frameworks) constructing, constituting and shaping how we 'do' sex, and deals with sex that is both illicit (deviant, illegal) and illegal (criminal, offending). The book challenges the idea that early twenty-first century Britain is increasingly sexually 'liberated' by suggesting that this very 'openness' provides the conditions in which all sexual activities have become increasingly subject to regulation and control. By examining the policies and laws about various sexually activities, and the social conditions underpinning them, alongside existing research and theoretical literature the authors have provided an accessible text on the sociology of sex