The ACII 2022 Affective Vocal Bursts Workshop & Competition: understanding a critically understudied modality of emotional expression

The ACII Affective Vocal Bursts Workshop & Competition is focused on understanding multiple affective dimensions of vocal bursts: laughs, gasps, cries, screams, and many other non-linguistic vocalizations central to the expression of emotion and to human communication more generally. This year's competition comprises four tracks using a large-scale and in-the-wild dataset of 59,299 vocalizations from 1,702 speakers. The first, the A-VB-High task, requires competition participants to perform a multi-label regression on a novel model for emotion, utilizing ten classes of richly annotated emotional expression intensities, including; Awe, Fear, and Surprise. The second, the A-VB-Two task, utilizes the more conventional 2-dimensional model for emotion, arousal, and valence. The third, the A-VB-Culture task, requires participants to explore the cultural aspects of the dataset, training native-country dependent models. Finally, for the fourth task, A-VB-Type, participants should recognize the type of vocal burst (e.g., laughter, cry, grunt) as an 8-class classification. This paper describes the four tracks and baseline systems, which use state-of-the-art machine learning methods. The baseline performance for each track is obtained by utilizing an end-to-end deep learning model and is as follows: for A-VB-High, a mean (over the 10-dimensions) Concordance Correlation Coefficient (CCC) of 0.5687 CCC is obtained; for A-VB-Two, a mean (over the 2-dimensions) CCC of 0.5084 is obtained; for A-VB-Culture, a mean CCC from the four cultures of 0.4401 is obtained; and for A-VB-Type, the baseline Unweighted Average Recall (UAR) from the 8-classes is 0.4172 UAR

Understanding Dwarf Galaxies in order to Understand Dark Matter

Much progress has been made in recent years by the galaxy simulation community in making realistic galaxies, mostly by more accurately capturing the effects of baryons on the structural evolution of dark matter halos at high resolutions. This progress has altered theoretical expectations for galaxy evolution within a Cold Dark Matter (CDM) model, reconciling many earlier discrepancies between theory and observations. Despite this reconciliation, CDM may not be an accurate model for our Universe. Much more work must be done to understand the predictions for galaxy formation within alternative dark matter models.Comment: Refereed contribution to the Proceedings of the Simons Symposium on Illuminating Dark Matter, to be published by Springe

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Background: Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a characteristic behavioral pattern. We identified a novel UBE3A sequence variant in a large family with eight affected individuals, who did not meet the clinical AS criteria. Methods: Detailed clinical examination and genetic analysis was performed to establish the phenotypic diversity and the genetic cause. The function of the mutant UBE3A protein was assessed with respect to its subcellular localization, stability, and E3 ubiquitin ligase activity. Results: All eight affected individuals showed the presence of a novel maternally inherited UBE3A sequence variant (NM_130838.4(UBE3A):c.1018-1020del, p.(Asn340del), which is in line with a genetic AS diagnosis. Although they presented with moderate to severe intellectual disability, the phenotype did not match the clinical criteria for AS. In line with this, functional analysis of the UBE3A p.Asn340del mutant protein revealed no major deficits in UBE3A protein localization, stability, or E3 ubiquitin ligase activity. Conclusion: The p.(Asn340del) mutant protein behaves distinctly different from previously described AS-linked missense mutations in UBE3A, and causes a phenotype that is markedly different from AS. This study further extends the range of phenotypes that are associated with UBE3A loss, duplication, or mutation

Inselect: Automating the Digitization of Natural History Collections

Copyright: © 2015 Hudson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. The attached file is the published version of the article

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency<0.0005 in our in-house cohort). Eight rare CNVs - in six patients - were de novo, including one CNV previously associated with oesophageal disease. (hg19 chr7:g.(143820444-143839360)-(159119486-159138663)del) 1.55% of isolated OA/TOF patients and 1.62% of patients with additional congenital anomalies had de novo CNVs. Furthermore, three (15q13.3, 16p13.3 and 22q11.2) susceptibility loci were identified based on their overlap with known OA/TOF-associated CNV syndromes and overlap with loci in published CNV association case-control studies in developmental delay. Our study suggests that CNVs contribute to OA/TOF development. In addition to the identified likely deleterious de novo CNVs, we detected 167 rare CNVs. Although not directly disease-causing, these CNVs might be of interest, as they can act as a modifier in a multiple hit model, or as the second hit in a recessive condition

Measurement of χ c1 and χ c2 production with s√ = 7 TeV pp collisions at ATLAS

The prompt and non-prompt production cross-sections for the χ c1 and χ c2 charmonium states are measured in pp collisions at s√ = 7 TeV with the ATLAS detector at the LHC using 4.5 fb−1 of integrated luminosity. The χ c states are reconstructed through the radiative decay χ c → J/ψγ (with J/ψ → μ + μ −) where photons are reconstructed from γ → e + e − conversions. The production rate of the χ c2 state relative to the χ c1 state is measured for prompt and non-prompt χ c as a function of J/ψ transverse momentum. The prompt χ c cross-sections are combined with existing measurements of prompt J/ψ production to derive the fraction of prompt J/ψ produced in feed-down from χ c decays. The fractions of χ c1 and χ c2 produced in b-hadron decays are also measured

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations. Methods: We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array-based genotyping, and compared the results to mouse transcriptome data of the developing foregut. Results: We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time-points. Two pathways were significantly enriched (p < 1 × 10−5): proliferation and differentiation of smooth muscle cells and self-renewal of satellite cells. Conclusions: None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated

`Whose Shoes?` Can an educational board game engage Ugandan men in pregnancy and childbirth?

Background Men can play a significant role in reducing maternal morbidity and mortality in low-income countries. Maternal health programmes are increasingly looking for innovative interventions to engage men to help improve health outcomes for pregnant women. Educational board games offer a unique approach to present health information where learning is reinforced through group discussions supporting peer-to-peer interactions. Methods A qualitative study with men from Uganda currently living in the UK on their views of an educational board game. Men were purposively sampled to play a board game and participate in a focus group discussion. The pilot study explored perceptions on whether a board game was relevant as a health promotional tool in maternal health prior to implementation in Uganda. Results The results of the pilot study were promising; participants reported the use of visual aids and messages were easy to understand and enhanced change in perspective. Men in this study were receptive on the use of board games as a health promotional tool and recommended its use in rural Uganda. Conclusions This study provides preliminary data on the relevancy and efficacy of using board games in maternal health. Key messages from the focus group appeared to be that the board game is more than acceptable to fathers and that it needs to be adapted to the local context to make it suitable for men in rural Uganda

Search and study of Quark Gluon Plasma at the CERN-LHC

The major aim of nucleus-nucleus collisions at the LHC is to study the physics of strongly interacting matter and the quark gluon plasma (QGP), formed in extreme conditions of temperature and energy density. We give a brief overview of the experimental program and discuss the signatures and observables for a detailed study of QGP matter.Comment: 15 pages, Invited article for the volume on LHC physics to celebrate the Platinum Jubilee of the Indian National Science Academy, Edited by Amitava Datta, Biswarup Mukhopadhyaya and Amitava Raychaudhuri (Jan 2009