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Background Lower socioeconomic status (SES) groups, particularly lower SES males, are at greater risk of alcohol-related harm than higher SES groups, despite drinking at the same level or less. However, they are rarely recruited for research through typical recruitment strategies. Consequently, limited evidence exists on patterns of alcohol use and effectiveness of public health messages for these groups. Using workplaces to recruit male drinkers from lower SES backgrounds may provide a feasible and accessible approach to research participation and enable improved understanding of alcohol use, drinking motives and acceptance of alcohol-related public health messages in this underrepresented and high-risk group. We investigated workplace-based strategies to recruit male drinkers from lower SES backgrounds. We also investigated their experiences and motivations for alcohol use, and acceptance of alcohol-related public health messages. Methods A feasibility element investigated the effectiveness of workplace-based strategies to recruit male drinkers from lower SES backgrounds in the south west of England. A pilot element investigated this population’s experiences and motivations for alcohol use, and acceptance of alcohol-related public health messages, through a mixed-methods survey. Results Feasibility results indicated that workplace-based recruitment strategies, including recruiting participants in person at their workplace and providing a financial incentive, effectively led to the recruitment of 84 male drinkers (70% recruitment rate), predominately from lower SES backgrounds, to a survey. Pilot results indicated that more than half of participants were at increasing risk of alcohol-related harm, and approximately one fifth engaged in weekly heavy episodic drinking. Participation in campaigns aimed at reducing alcohol use, and knowledge of government alcohol consumption guidelines, were low. Participants reported negative beliefs about alcohol including health effects, dependency and excess use, and financial and occupational effects. Positive beliefs about alcohol included relaxation, socialising, and enjoyment. Conclusions Workplace-based recruitment, using in-person recruitment and a financial incentive, may be a feasible strategy to recruit male drinkers from lower SES backgrounds. Pilot results may direct larger scale research aiming to understand alcohol use in this population and inform targeted public health messages. Workplace-based recruitment may represent a promising avenue for future research aiming to tackle inequalities in participation in alcohol research.

We describe a case of refractory pulseless polymorphic ventricular tachycardia successfully treated with a bolus of propranolol intravenously, followed by an esmolol infusion and extracorporeal life support for 4 days in a 12-year-old boy later diagnosed with catecholaminergic polymorphic ventricular tachycardia. He had an excellent neurological outcome. Genetic testing for mutations associated with cardiac arrhythmias yielded a mutation of the syntrophin α-1 gene. The pathogenicity of this specific variant is uncertain. A mutation of this gene at a different locus is implicated in rare cases of long-QT syndrome. The patient subsequently underwent left cardiac sympathetic denervation followed by implantable cardiac defibrillator insertion. He remains symptom and arrhythmia free on atenolol.

C.J.A.D. was supported by the Academy of Medical Sciences (AMS-SGCL11), the British Infection Association, and the UK NIH Research (NIHR); S.M.B.M. was supported by the Universiti Sains Malaysia Fellowship; K.R.E. and S.H. were supported by the Sir Jules Thorn Trust (12/JTA); D.F.Y., D.C.M., and R.E.R. were supported by the Wellcome Trust (101788/Z/13/Z); and A.J.S. was supported by the Medical Research Council–Arthritis Research UK Centre for Integrated Research into Musculoskeletal Ageing and NIHR Newcastle Biomedical Research Centre. J.B. receives funding from the UCLH/UCL NIHR Biomedical Research Centre. S.M. is supported by the FP7 PATHSEEK grant. J.R.B. is supported by an NIHR fellowship. Type I interferon (IFN-α/β) is a fundamental antiviral defense mechanism. Mouse models have been pivotal to understanding the role of IFN-α/β in immunity, although validation of these findings in humans has been limited. We investigated a previously healthy child with fatal encephalitis after inoculation of the live attenuated measles, mumps, and rubella (MMR) vaccine. By targeted resequencing, we identified a homozygous mutation in the high-affinity IFN-α/β receptor (IFNAR2) in the proband, as well as a newborn sibling, that rendered cells unresponsive to IFN-α/β. Reconstitution of the proband's cells with wild-type IFNAR2 restored IFN-α/β responsiveness and control of IFN-attenuated viruses. Despite the severe outcome of systemic live vaccine challenge, the proband had previously shown no evidence of heightened susceptibility to respiratory viral pathogens. The phenotype of IFNAR2 deficiency, together with similar findings in STAT2-deficient patients, supports an essential but narrow role for IFN-α/β in human antiviral immunity. Postprint

Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX1 is that coding for the common gamma chain (gamma c), a component of multiple cytokine receptors. Mutations in this gene have been demonstrated in a large number of boys affected by typical SCIDX1. We describe a sporadic case of a boy who had SCID with absent B cells and absent T cells, but in whom a mutation in the gamma c gene has been demonstrated. In the absence of a typical X-linked pedigree, the phenotype in this boy suggested an autosomal recessive form of SCID and the family would usually have been counselled accordingly. This family raises the question of the true frequency of SCIDX1 amongst sporadic male cases of SCID and highlights the need to screen these boys for gamma chain mutations.

A 30-year-old man with no family history of muscle disease presented with a progressive proximal myopathy and calf hypertrophy characteristic of Becker muscular dystrophy. A deletion of exons 45 to 48 in the dystrophin gene was confirmed by Southern blotting and multiplex polymerase chain reaction. However, muscle biopsy showed massive accumulation of glycogen, although no significant abnormality of glycolytic pathway enzymes could be demonstrated. This patient therefore has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology.

Summary. Monosomy or deletion of chromosome 7 is a frequent finding in both de novo and secondary acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS). Based on analysis of deletions of chromosome 7 in such patients, it has been suggested that there is a critical region of the chromosome lying within bands q21-q31. We have examined bone marrow and peripheral blood samples from 10 patients with MDS, AML and biphenotypic acute leukaemia who had monosomy for or rearrangement of chromosome 7, seeking evidence of non-random allele loss that might suggest the presence of imprinted genes on the chromosome. Bone marrow cells from one patient with the infant monosomy 7 syndrome had loss of maternal alleles as did two patients with biphenotypic leukaemia. Five out of five patients with MDS and both patients with de novo AML had loss of paternal alleles. One of the latter patients had a del(7) (q31q36) rather than monosomy 7. These findings suggest that imprinting of a gene(s) on chromosome 7, within the bands q31-q36, may be of importance in MDS and AML. Despite the reported increased incidence of AML amongst relatives of patients with cystic fibrosis (CF) the gene for which lies in chromosome region 7q31, none of the patients nor parents studied here appeared to be carriers of the most common gene mutation seen in patients with CF, the delta F508.