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Abstract Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. Case presentation Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of the family was performed to identify genetic alterations responsible for this phenotype. We identified a de novo synonymous variant in the EFTUD2 gene. We demonstrated that this synonymous variant disrupts the donor splice-site in intron 9 resulting in the skipping of exon 9 and a frameshift that leads to a premature stop codon. Conclusions We present the first case of MFDM caused by a synonymous variant disrupting the donor splice site, leading to exon skipping.

Summary: Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (associated with spinal muscular atrophy with congenital bone fractures 1), and ASCC2 (not yet associated with human disease.) ASCC3 encodes a DNA helicase responsible for generating single-stranded DNA as part of the DNA damage response. Interestingly, ASCC3 expresses coding and non-coding isoforms, which act in opposition to balance the recovery of gene transcription after UV-induced DNA damage. Here we report the discovery of ASCC3 as the cause of a neuromuscular syndrome in seven unreported individuals from six unrelated families and updates on the one previously reported family. All the individuals share a neurologic phenotype that ranges from severe developmental delay to muscle fatigue. There appears to be genotype-phenotype correlation, as the most mildly affected individual is homozygous for a rare missense variant, while the more severely affected individuals are compound heterozygotes for a missense and a presumed loss-of-function (LOF) variant. There are no individuals with biallelic presumed LOF variants in our cohort or in gnomAD, as this genotype may not be compatible with life. In summary we report a syndrome in these eleven individuals from seven families with biallelic variants in ASCC3.

We employ both manual and automated content analysis to update an existing dictionary (Boritz, Hayes, and Lim 2013) used to classify types of information technology weakness (ITW). Through analysis of auditors' reports on internal control filed under Section 404 of the Sarbanes-Oxley Act from 2011 through 2020, we provide a robust tool for textual analytics. Additionally, we apply OpenAI's large-language model neural networks for classification as a comparison point. We expand identification of ITW categories such as Design, Security, and Outsourcing and identify Governance as a critical new category in auditor reporting. We further expand the dictionary, capturing categories of IT risk found within current IT control frameworks (e.g., COBIT and AICPA TSCs), which we compare with content of auditor reporting. Evidence suggests stakeholders are subject to significant information asymmetry in assessing and reporting IT risk. We provide direction for future IT governance and improve application of advanced textual analysis. [ABSTRACT FROM AUTHOR]

Background: Displaced talar neck fractures are subject to avascular necrosis and degenerative joint disease. A single-lateral-incision approach may avoid damage to the remaining blood supply to the talar body provided by the deltoid artery. The purpose of this paper is to describe the surgical technique for a single approach to talar neck fractures, to evaluate the outcomes in a cohort of patients, and to review the literature on the topic. Method: A retrospective review. Patients were identified at a single medical center and met the following inclusion criteria: closed fracture, type-II talar neck fracture with displacement of the subtalar joint, single lateral operative approach, and radiographic follow-up of at least 6 months. Results: Five patients were identified meeting the inclusion criteria. The mean follow-up was 18 months (12–25). The mean VAS (Visual Analog Score) score at the final follow-up was 1.2 (0–3). Four of five patients returned to running at the final follow-up. The one patient who did not return to running was able to bike and hike. There were no cases of avascular necrosis and no cases of degenerative joint disease. Conclusions: Although a two-incision approach could be considered for all displaced talar neck fractures, there are certain fractures that can be anatomically reduced and stabilized through a single lateral incision which may limit the risk of avascular necrosis. [ABSTRACT FROM AUTHOR]

Peppers (Capsicum annuum) are one of the most widely cultivated vegetable crops, with per capita consumption of bell and chile peppers being 11.4 and 7.7 pounds in 2017. Biostimulants are an emerging sustainable alternative to enhance plant health by increasing photosynthetic activity, stress tolerance, and nutrient uptake through various modes of action. The effects of different biostimulant applications largely remain unknown in containerized heirloom pepper production. This study evaluated plant growth, yield, and fruit quality of nine heirloom chile pepper cultivars, including 'Anaheim Chili,' 'Ancho or Poblano,' 'Big Jim,' 'Cayenne Purple,' 'Chile de Arbol,' 'Jamaica Hot Red,' 'Mulato Isleno,' 'Padron,' and 'Pasilla Bajio' in a container production system throughout the years of 2020 and 2021. Each cultivar was treated with three types of biostimulants, including Tribus® Original (a mixture of Bacillus bacterias), Vitazyme (containing plant growth regulators and B vitamins), C-Bio CPS (seaweed extract of Ascophyllum Nodosum), and water as control. Pepper cultivars varied in yield and quality, including fruit length, diameter, single fruit weight, and fruit color in both years. 'Anaheim Chili,' 'Big Jim,' and 'Jamaica Hot Red' produced highest marketable yields similarly, with 'Chile de Arbol' and 'Pasilla de Bajio' producing the lowest marketable yields in both years. Biostimulant application did not affect marketable yield either in 2020 or 2021 but enhanced fruit quality, including fruit length, diameter, and green coloration. [ABSTRACT FROM AUTHOR]

As a new specialty crop with high market value, microgreens are vegetable or herb seedlings consumed at a young age, 7–21 days after germination. They are known as functional food with high concentrations of mineral nutrients and health beneficial phytochemicals. Microgreen industry lacks standardized recommendations on cultural practices including species/variety selection, substrate choice, and fertilization management. This study evaluated shoot growth and mineral nutrient concentrations in five microgreens including four Brassica and one Raphanus microgreens as affected by four hydroponic pad types and post-emergent fertilization in two experiments in January and February 2020. The five microgreens varied in their shoot height, fresh, dry shoot weights, and mineral nutrient concentrations with radish producing the highest fresh and dry shoot weights. Radish had the highest nitrogen (N) concentration and mustard had the highest phosphorus (P) concentrations when grown with three hydroponic pads except for hemp mat. Hydroponic pad type altered fresh, dry shoot weights, and mineral nutrients in tested microgreens. Microgreens in hemp mat showed the highest shoot height, fresh, dry shoot weights, and potassium (K) concentration, but the lowest N concentration in one or two experiments. One time post-emergent fertilization generally increased shoot height, fresh, dry shoot weights, and macronutrient concentrations in microgreens. [ABSTRACT FROM AUTHOR]

Video stream: https://vimeo.com/358415199 Despite a wealth of studies using eye tracking to investigate mental processes during vision or reading, the investigation of oculomotor activity during natural reading of longer texts –be it newspaper articles, narratives or poetry– is still an exception in this field (as evidenced by the program of ECEM 2017 in Wuppertal). Following up on our symposium at ECEM 2017, here we bring together eye movement research on natural text reading to report recent progress in a coordinated way sharing data, experiences and software skills in this highly complex subfield. More specifically, in this symposium we will address several challenges faced by an eye tracking perspective on the reading of longer texts which involve a surplus of intervening variables and novel methods to analyze the data. In particular, the following issues will be addressed: - Which text-analytical and statistical methods are best to deal with the myriad of surface and affective semantic features potentially influencing eye movements during reading of ‘natural’ texts? - What are the pros and cons of using machine learning assisted predictive modeling as an alternative to the standard GLM/LMM frameworks? - Which kind of theoretical models can deal with the level of complexity offered by reading longer natural texts?

Most language users agree that some words sound harsh (e.g. grotesque) whereas others sound soft and pleasing (e.g. lagoon). While this prominent feature of human language has always been creatively deployed in art and poetry, it is still largely unknown whether the sound of a word in itself makes any contribution to the word's meaning as perceived and interpreted by the listener. In a large-scale lexicon analysis, we focused on the affective substrates of words' meaning (i.e. affective meaning) and words' sound (i.e. affective sound); both being measured on a two-dimensional space of valence (ranging from pleasant to unpleasant) and arousal (ranging from calm to excited). We tested the hypothesis that the sound of a word possesses affective iconic characteristics that can implicitly influence listeners when evaluating the affective meaning of that word. The results show that a significant portion of the variance in affective meaning ratings of printed words depends on a number of spectral and temporal acoustic features extracted from these words after converting them to their spoken form (study1). In order to test the affective nature of this effect, we independently assessed the affective sound of these words using two different methods: through direct rating (study2a), and through acoustic models that we implemented based on pseudoword materials (study2b). In line with our hypothesis, the estimated contribution of words' sound to ratings of words' affective meaning was indeed associated with the affective sound of these words; with a stronger effect for arousal than for valence. Further analyses revealed crucial phonetic features potentially causing the effect of sound on meaning: For instance, words with short vowels, voiceless consonants, and hissing sibilants (as in 'piss') feel more arousing and negative. Our findings suggest that the process of meaning making is not solely determined by arbitrary mappings between formal aspects of words and concepts they refer to. Rather, even in silent reading, words' acoustic profiles provide affective perceptual cues that language users may implicitly use to construct words' overall meaning.