Evidence for the fourth P11 resonance predicted by the constituent quark model

It is pointed out that the third of five low-lying P11 states predicted by a constituent quark model can be identified with the third of four states in a solution from a three-channel analysis by the Zagreb group. This is one of the so-called ``missing'' resonances, predicted at 1880 MeV. The fit of the Zagreb group to the pi N -> eta N data is the crucial element in finding this fourth resonance in the P11 partial wave.Comment: 8 pages, revtex; expanded acknowledgement

‘I’d like to report a suspicious looking tree’: public concern, public attention and the nature of reporting about ash dieback in the UK

‘Public concern’, a ubiquitous notion used in descriptive and explanatory modes by policymakers, academics, and the media, is often presented as axiomatic. However, the variability with which it is deployed in different contexts, e.g. as justification for policy attention or having equivalence with what is considered ‘newsworthy’, belies this status. This paper presents an empirical analysis of emails and phone calls from the UK public, to UK government agencies, reporting suspected cases of ash dieback disease; a tree health issue which attracted intense media and policy attention in the UK in 2012. We challenge the view that public attentiveness is necessarily indicative of public concern, or that media attention can be taken as its proxy. Examination of concern at macro and micro levels reveals heterogeneous processes with multiple dimensions. Understanding the nature of public concern is crucial in enabling more effective policy development and operational responses to risk related issues

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa. Methods: DNA from the proband was sequenced using a gene panel for inherited retinal disorders, and a single nucleotide polymorphism (SNP) array was conducted to detect the presence of deletions and uniparental disomy. Results: We identified a novel homozygous variant (c.524dupC, p.(Pro176ThrfsTer7)) in TULP1 resulting from maternal uniparental isodisomy of chromosome 6. The patient had clinical features consistent with biallelic pathogenic variants in TULP1, including congenital nystagmus, night blindness, non-recordable electroretinogram, mild myopia, and mild peripheral pigmentary changes in the fundus. Conclusions: This is the first report of uniparental disomy 6 and a homozygous variant in TULP1 associated with a rod-cone dystrophy. Molecular diagnosis of inherited retinal dystrophies is essential to inform the mode of transmission and clinical management, and to identify potential candidates for future gene-specific therapies.Emmanuelle Souzeau, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Christopher P. Barnett, Tina M. Lamey, Jamie E. Crai

The Standard Model as a noncommutative geometry: the low energy regime

We render a thorough, physicist's account of the formulation of the Standard Model (SM) of particle physics within the framework of noncommutative differential geometry (NCG). We work in Minkowski spacetime rather than in Euclidean space. We lay the stress on the physical ideas both underlying and coming out of the noncommutative derivation of the SM, while we provide the necessary mathematical tools. Postdiction of most of the main characteristics of the SM is shown within the NCG framework. This framework, plus standard renormalization technique at the one-loop level, suggest that the Higgs and top masses should verify 1.3 m_top \lesssim m_H \lesssim 1.73 m_top.Comment: 44 pages, Plain TeX with AMS fonts, mass formulae readjusted, some references added, to appear in Physics Report

Complementarity of the CERN Large Hadron Collider and the e+e−e^+e^- International Linear Collider

The next-generation high-energy facilities, the CERN Large Hadron Collider (LHC) and the prospective $e^+e^-$ International Linear Collider (ILC), are expected to unravel new structures of matter and forces from the electroweak scale to the TeV scale. In this report we review the complementary role of LHC and ILC in drawing a comprehensive and high-precision picture of the mechanism breaking the electroweak symmetries and generating mass, and the unification of forces in the frame of supersymmetry.Comment: 14 pages, 17 figures, to be published in "Supersymmetry on the Eve of the LHC", a special volume of European Physical Journal C, Particles and Fields (EPJC) in memory of Julius Wes

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

First published:06 March 2020Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one-day-old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post-zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow-up studies for presumed de novo and low-level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations.Tristan S.E. Hardy … Andreas W. Schreiber … Nick Manton, Lynette Moore … Christopher P. Barnett … Hamish S. Scott … et al

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Background: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular aetiology of the disorder is currently unknown. Methods: Whole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with PDD, in order to identify the underlying genetic cause. The functional effects of the identified variants were characterised using primary cells and human cell-based overexpression assays. Results: WES resulted in the identification of biallelic variants in the established skeletal dysplasia genes, B3GAT3 (family 1) and CANT1 (family 2). Mutations in these genes have previously been reported to cause 'multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects' ('JDSCD'; B3GAT3) and Desbuquois dysplasia 1 (CANT1), disorders in the same nosological group as PDD. Follow-up of the B3GAT3 variants demonstrated significantly reduced B3GAT3/GlcAT-I expression. Downstream in vitro functional analysis revealed abolished biosynthesis of glycosaminoglycan side chains on proteoglycans. Functional evaluation of the CANT1 variant showed impaired nucleotidase activity, which results in inhibition of glycosaminoglycan synthesis through accumulation of uridine diphosphate. Conclusion: For the families described in this study, the PDD phenotype was caused by mutations in the known skeletal dysplasia genes B3GAT3 and CANT1, demonstrating the advantage of genomic analyses in delineating the molecular diagnosis of skeletal dysplasias. This finding expands the phenotypic spectrum of B3GAT3-related and CANT1-related skeletal dysplasias to include PDD and highlights the significant phenotypic overlap of conditions within the proteoglycan biosynthesis pathway.Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scot