New Q-ball Solutions in Gauge-Mediation, Affleck-Dine Baryogenesis and Gravitino Dark Matter

Affleck-Dine (AD) baryogenesis along a d=6 flat direction in gauge-mediated supersymmetry-breaking (GMSB) models can produce unstable Q-balls which naturally have field strength similar to the messenger scale. In this case a new kind of Q-ball is formed, intermediate between gravity-mediated and gauge-mediated type. We study in detail these new Q-ball solutions, showing how their properties interpolate between standard gravity-mediated and gauge-mediated Q-balls as the AD field becomes larger than the messenger scale. It is shown that E/Q for the Q-balls can be greater than the nucleon mass but less than the MSSM-LSP mass, leading to Q-ball decay directly to Standard Model fermions with no MSSM-LSP production. More significantly, if E/Q is greater than the MSSM-LSP mass, decaying Q-balls can provide a natural source of non-thermal MSSM-LSPs, which can subsequently decay to gravitino dark matter without violating nucleosynthesis constraints. The model therefore provides a minimal scenario for baryogenesis and gravitino dark matter in the gauge-mediated MSSM, requiring no new fields.Comment: 13 pages, 9 figures. Some corrections and additional discussion. Version published in JCA

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. Overlapping deletions previously found by traditional and/or molecular cytogenetic analysis allowed to define some critical regions for intellectual disability (ID) and multiple congenital anomalies, with key candidate genes. In the present study, using array-CGH, we characterized seven new patients with interstitial 13q deletion involving RB1. Among these cases, three patients with medium or large 13q deletions did not present psychomotor delay. This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (HTR2A, NUFIP1, PCDH8, and PCDH17). The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype. In conclusion, this study adds important novelties to the 13q deletion syndrome, although further studies are needed to better characterize the contribution of different genes and to understand how the haploinsufficiency of this region can determine ID. © 2021 by the authors. Licensee MDPI, Basel, Switzerland

Affleck-Dine dynamics and the dark sector of pangenesis

Pangenesis is the mechanism for jointly producing the visible and dark matter asymmetries via Affleck-Dine dynamics in a baryon-symmetric universe. The baryon-symmetric feature means that the dark asymmetry cancels the visible baryon asymmetry and thus enforces a tight relationship between the visible and dark matter number densities. The purpose of this paper is to analyse the general dynamics of this scenario in more detail and to construct specific models. After reviewing the simple symmetry structure that underpins all baryon-symmetric models, we turn to a detailed analysis of the required Affleck-Dine dynamics. Both gravity-mediated and gauge-mediated supersymmetry breaking are considered, with the messenger scale left arbitrary in the latter, and the viable regions of parameter space are determined. In the gauge-mediated case where gravitinos are light and stable, the regime where they constitute a small fraction of the dark matter density is identified. We discuss the formation of Q-balls, and delineate various regimes in the parameter space of the Affleck-Dine potential with respect to their stability or lifetime and their decay modes. We outline the regions in which Q-ball formation and decay is consistent with successful pangenesis. Examples of viable dark sectors are presented, and constraints are derived from big bang nucleosynthesis, large scale structure formation and the Bullet cluster. Collider signatures and implications for direct dark matter detection experiments are briefly discussed. The following would constitute evidence for pangenesis: supersymmetry, GeV-scale dark matter mass(es) and a Z' boson with a significant invisible width into the dark sector.Comment: 51 pages, 7 figures; v2: minor modifications, comments and references added; v3: minor changes, matches published versio

Visible and dark matter from a first-order phase transition in a baryon-symmetric universe

The similar cosmological abundances observed for visible and dark matter suggest a common origin for both. By viewing the dark matter density as a dark-sector asymmetry, mirroring the situation in the visible sector, we show that the visible and dark matter asymmetries may have arisen simultaneously through a first-order phase transition in the early universe. The dark asymmetry can then be equal and opposite to the usual visible matter asymmetry, leading to a universe that is symmetric with respect to a generalised baryon number. We present both a general structure, and a precisely defined example of a viable model of this type. In that example, the dark matter is atomic as well as asymmetric, and various cosmological and astrophysical constraints are derived. Testable consequences for colliders include a Z' boson that couples through the B-L charge to the visible sector, but also decays invisibly to dark sector particles. The additional scalar particles in the theory can mix with the standard Higgs boson and provide other striking signatures.Comment: 26 pages, comments and references added, JCAP versio

Dynamical Boson Stars

The idea of stable, localized bundles of energy has strong appeal as a model for particles. In the 1950s John Wheeler envisioned such bundles as smooth configurations of electromagnetic energy that he called {\em geons}, but none were found. Instead, particle-like solutions were found in the late 1960s with the addition of a scalar field, and these were given the name {\em boson stars}. Since then, boson stars find use in a wide variety of models as sources of dark matter, as black hole mimickers, in simple models of binary systems, and as a tool in finding black holes in higher dimensions with only a single killing vector. We discuss important varieties of boson stars, their dynamic properties, and some of their uses, concentrating on recent efforts.Comment: 79 pages, 25 figures, invited review for Living Reviews in Relativity; major revision in 201

Clinical and molecular characterization of COVID-19 hospitalized patients

Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy, from April 7 to May 7, 2020. Eighty percent of patients required respiratory assistance, half of them being on mechanical ventilation. Fiftyone percent had hepatic involvement and hyposmia was ascertained in 3 patients. Searching for common genes by collapsing methods against 150 WES of controls of the Italian population failed to give straightforward statistically significant results with the exception of two genes. This result is not unexpected since we are facing the most challenging common disorder triggered by environmental factors with a strong underlying heritability (50%). The lesson learned from Autism-Spectrum-Disorders prompted us to re-analyse the cohort treating each patient as an independent case, following a Mendelian-like model. We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for COVID-19 susceptibility with a number of common susceptibility genes which represent the favorite background in which additional host private mutations may determine disease progression

An explainable model of host genetic interactions linked to COVID-19 severity

We employed a multifaceted computational strategy to identify the genetic factors contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing (WES) dataset of a cohort of 2000 Italian patients. We coupled a stratified k-fold screening, to rank variants more associated with severity, with the training of multiple supervised classifiers, to predict severity based on screened features. Feature importance analysis from tree-based models allowed us to identify 16 variants with the highest support which, together with age and gender covariates, were found to be most predictive of COVID-19 severity. When tested on a follow-up cohort, our ensemble of models predicted severity with high accuracy (ACC = 81.88%; AUCROC = 96%; MCC = 61.55%). Our model recapitulated a vast literature of emerging molecular mechanisms and genetic factors linked to COVID-19 response and extends previous landmark Genome-Wide Association Studies (GWAS). It revealed a network of interplaying genetic signatures converging on established immune system and inflammatory processes linked to viral infection response. It also identified additional processes cross-talking with immune pathways, such as GPCR signaling, which might offer additional opportunities for therapeutic intervention and patient stratification. Publicly available PheWAS datasets revealed that several variants were significantly associated with phenotypic traits such as “Respiratory or thoracic disease”, supporting their link with COVID-19 severity outcome

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

Background: Recently, loss-of-function variants in TLR7 were identified in two families in which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the two families represent the tip of the iceberg of a subset of COVID-19 male patients.Methods: This is a nested case-control study in which we compared male participants with extreme phenotype selected from the Italian GEN-COVID cohort of SARS-CoV-2-infected participants (<60y, 79 severe cases versus 77 control cases). We applied the LASSO Logistic Regression analysis, considering only rare variants on young male subsets with extreme phenotype, picking up TLR7 as the most important susceptibility gene.Results: Overall, we found TLR7 deleterious variants in 2.1% of severely affected males and in none of the asymptomatic participants. The functional gene expression profile analysis demonstrated a reduction in TLR7-related gene expression in patients compared with controls demonstrating an impairment in type I and II IFN responses.Conclusion: Young males with TLR7 loss-of-function variants and severe COVID-19 represent a subset of male patients contributing to disease susceptibility in up to 2% of severe COVID-19