Miracle-dz/UniFAR-FTUs huggingface dataset:
The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature

Sudden cardiac death (SCD) in adolescents and young adults is a major traumatic event for families and communities. In these cases, it is not uncommon to have a negative autopsy with structurally and histologically normal heart. Such SCD cases are generally attributed to channelopathies, which include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Our understanding of the causes for SCDs has changed significantly with the advancements in molecular and genetic studies, where many mutations are now known to be associated with certain channelopathies. Postmortem analysis provides great value in informing decision-making with regard to screening tests and prophylactic measures that should be taken to prevent sudden death in first degree relatives of the decedent. As this is a rapidly advancing field, our ability to identify genetic mutations has surpassed our ability to interpret them. This led to a unique challenge in genetic testing called variants of unknown significance (VUS). VUSs present a diagnostic dilemma and uncertainty for clinicians and patients with regard to next steps. Caution should be exercised when interpreting VUSs since misinterpretation can result in mismanagement of patients and their families. A case of a young adult man with drowning as his proximate cause of death is presented in circumstances where cardiac genetic testing was indicated and undertaken. Eight VUSs in genes implicated in inheritable cardiac dysfunction were identified and the interpretation of VUSs in this scenario is discussed.
Vibrational properties of green wood in high-temperature water vapor

Abstract The object of this study was to measure basic wood properties when water in wood is lost by heating under high temperature and high humidity. Using Sitka spruce (Picea sitchensis Carr.) specimens with dimensions of 110 mm (R)×25 mm (L)×8 mm (T), temperature and weight were measured and free-free flexural vibration tests were conducted in water vapor at 115–150°C and 75–98% relative humidity. The results were compared to those at high temperatures without humidity control under atmospheric pressure. Early in the drying process, the resonance frequency and loss tangent showed a minimum and maximum, respectively. Temporal changes in the temperature, moisture content and vibrational properties were similar to those in heating without humidity control, while the specific Young's modulus and loss tangent during the drying processes were much smaller and greater, respectively, than those in heating without humidity control. Hence, we concluded that the wood was remarkably softened by high temperature and moisture.
Landmarks of human embryonic development inscribed in somatic mutations

Mutations provide an enduring record Somatic mutations pepper our cells with change, but because they are not in the germline, they do not propagate to the next generation. Bizzotto et al. leveraged data on the distribution of somatic mutations in adults to take a backward look at the earliest moments of human development. Calculation of cellular lineages on the basis of shared somatic mutations shows the number of cells from which the body will develop when the human embryo gastrulates. The lineage for forebrain cells is identifiable, as are the asymmetrical fates spun out of many of the gastrula cells. Science, this issue p. 1249 Analysis of mosaic variants in multiple organs resolves post-zygotic lineages, elucidating embryo and brain development. Although cell lineage information is fundamental to understanding organismal development, very little direct information is available for humans. We performed high-depth (250×) whole-genome sequencing of multiple tissues from three individuals to identify hundreds of somatic single-nucleotide variants (sSNVs). Using these variants as “endogenous barcodes” in single cells, we reconstructed early embryonic cell divisions. Targeted sequencing of clonal sSNVs in different organs (about 25,000×) and in more than 1000 cortical single cells, as well as single-nucleus RNA sequencing and single-nucleus assay for transposase-accessible chromatin sequencing of ~100,000 cortical single cells, demonstrated asymmetric contributions of early progenitors to extraembryonic tissues, distinct germ layers, and organs. Our data suggest onset of gastrulation at an effective progenitor pool of about 170 cells and about 50 to 100 founders for the forebrain. Thus, mosaic mutations provide a permanent record of human embryonic development at very high resolution.
EDXRF determination of iron during infant cereals production and its fitness for purpose

Summary The objective of this study was to develop and validate a rapid and efficient method for the determination of iron in commercial infant cereals using energy-dispersive X-ray fluorescence (EDXRF) technique. Two EDXRF devices were tested: Spectro Xepos and PANalytical Minipal 2.20 samples were used for calibration of the XRF apparatus. The technique was validated using a second set of twenty other samples and comparing results of the reference method (inductively coupled plasma-atomic emission spectroscopy, ICP-AES) and those of the EDXRF. No significant bias was found between the two methods. Three pellets per sample are prepared under 10 tonnes of pressure and analysed. The total time of analysis for iron is less than 20 min and this technique appears to be adequate for process control during infant cereals production.
Generating arbitrary topological windings of a non-Hermitian band

Topology in the open Controlling the topology of a system provides a route to develop devices that are robust against defects. Whereas earlier developments of topological band theory focused on Hermitian (closed) systems, recent efforts have been toward non-Hermitian (open) systems. K. Wang et al. report on the measurement and control of topologically nontrivial windings of a non-Hermitian energy band. By implementing non-Hermitian lattice Hamiltonians along a frequency synthetic dimension formed by optical frequency modes in a modulated ring-resonator, they directly visualized the nontrivial topological band winding and showed that the winding can be controlled. Such control provides a route for the experimental synthesis, characterization, and control of topologically nontrivial phases in open physical systems. Science, this issue p. 1240 Control of the topological properties of an open system is demonstrated in an optical ring resonator. The nontrivial topological features in the energy band of non-Hermitian systems provide promising pathways to achieve robust physical behaviors in classical or quantum open systems. A key topological feature of non-Hermitian systems is the nontrivial winding of the energy band in the complex energy plane. We provide experimental demonstrations of such nontrivial winding by implementing non-Hermitian lattice Hamiltonians along a frequency synthetic dimension formed in a ring resonator undergoing simultaneous phase and amplitude modulations, and by directly characterizing the complex band structures. Moreover, we show that the topological winding can be controlled by changing the modulation waveform. Our results allow for the synthesis and characterization of topologically nontrivial phases in nonconservative systems.
Primary cementing of horizontal wells. Displacement flows in eccentric horizontal annuli. Part 2. Computations

Abstract We present results of three-dimensional computational simulations of horizontal eccentric annular displacement flows as studied experimentally by Renteria & Frigaard (J. Fluid Mech., vol. 905, 2020, A7). We show the simulations are able to effectively capture detailed dispersive features of the flows, not resolved in simpler models. Top side flows, slumping flows and narrow side residual layers are predicted reliably and we are able to understand the main mechanisms that drive the flow into one of these classifications. Both experiments and simulations agree in their classification of steady and unsteady displacements. However, when the dispersion is properly resolved the concept of a steady state displacement becomes questionable. We study the axial spreading of the displacement front via one-dimensional simplifications, both advective and diffusive. While these do not fully describe the flows, they give some estimates that are useful for practical application.
Surface wavepackets subject to an abrupt depth change. Part 2. Experimental analysis

Abstract Surface gravity wavepackets in intermediate water depth experiencing an abrupt depth decrease are investigated experimentally. The experiments provide validation for the second-order (in steepness) theory for narrow-banded surface gravity wavepackets experiencing a sudden depth transition derived in a companion paper (Li et al., J. Fluid Mech., 2021, 915, A71). We observe the generation of free second-order sub- and superharmonic wavepackets due to the sudden depth transition, in addition to changes to the main (first-order) wavepacket and its second-order bound waves. Locally, just after the step, this leads to the superposition of different wavepacket components. Thereafter, separation occurs because of the different group speeds of the free second-order sub- and superharmonic wavepackets compared with the main packet. Experiments show that the local superposition of waves can lead to significant amplification of wave crests near the top of a step, as predicted by theory. In addition to a step, we also experimentally examine more gradual depth changes in the form of 1 : 1 and 1 : 3 slopes to explore the limits of the theory's validity. Although we find small differences in amplitude and phase comparing these steep slopes with a step, these experiments suggest that the theoretical model derived in Part 1 for wavepackets travelling over a step is applicable to slopes steeper than $1\,{:}\,3$.
Skepticism and Credulity: A Model and Applications to Political Spin, Belief Formation, and Decision Weights

Abstract In this paper I model a decision maker who forms beliefs and opinions using a dialectic heuristic that depends on their degree of skepticism or credulity. In an application to political spin, two competing parties choose how to frame commonly observed evidence. If the receiver is sufficiently credulous, equilibrium spin is maximally extreme and generates short, superficial news cycles. When receivers vary in their skepticism, there is partisan sorting by skepticism parameter: the more credulous group systematically favors one party and displays hostility to evidence and a media they see as biased. In behavioral applications in which the frames arise from the decision maker’s internal deliberation, a decision maker with the same credulous nature would display known behavioral anomalies in forming beliefs and forming decision weights from stated probabilities. The dialectic model therefore captures a simple psychological mechanism and matches closely some stylized facts across these three disparate applications.
The Factors Affecting Bank Profitability: the Case of Bosnia and Herzegovina

Abstract This research includes all banks in Bosnia and Herzegovina (B&H) and testing internal and external variables on bank profitability indicators. The primary goal of this paper is to determine, through correlation and regression analysis, the strength and significance of the external and internal variables on bank profitability in Bosnia and Herzegovina. Likewise, data were collected from quarterly reports of the Banking Agency of the Federation of B&H and the Banking Agency of the Republika Srpska for the period 2008 Q1 to 2019 Q4. The following dependent variables were used: ROA, ROE and independent variables: GRNGL, GRNPL, GRGDP, concentration ratio of loans of the largest banks in the system (CR Loans), concentration ratio of deposits of the largest banks in the system (CR Deposits), CAR and loan-to-deposit ratio. The study found that there is a significant statistical impact of the variables on ROA and ROE. In addition, this study points out the need for banks to properly select debtors, and control costs, toxic loans and provisions in order to increase profits and reduce costs.
Deformation mechanisms and plasticity of ultrafine-grained Al under complex stress state revealed by digital image correlation technique

Abstract Conventional engineering stress–strain curve could not accurately describe the local deformability of the tensile necking part because the strain is calculated by assuming that the tensile specimen was deformed uniformly. In this study, we used 3D optical measuring digital image correlation to systematically measure the full strain field and actual flow stress in the necking region of ultrafine-grained (UFG) Al. The post-necking elongation and strain hardening exponent of the UFG Al were measured as 80% and 0.10, slightly smaller than those of the coarse-grained Al (117% and 0.28), suggesting the high plastic deformability of the UFG Al under complex stress state. Microstructural studies revealed the shear and ductile fracture, numerous micro-shear bands, and elongated UFG grains in the UFG Al, which are controlled by cooperative grain boundary sliding and multiple dislocation slips.
Notes on lichenicolous species of Opegrapha s. lat. (Arthoniales) on Arthoniaceae and Verrucariaceae, with a key to British and Irish lichenicolous Opegraphaceae

Abstract Three species of lichenicolous Opegrapha s. lat. are newly described, all apparently host-specific at genus level. Opegrapha arthoniicola Coppins & S. Y. Kondr. is described from western Britain and Ireland, where it grows on the thallus of Arthonia radiata on Corylus bark; it has small clustered ascomata, asci that are usually 6-spored and rather small ascospores (10.5–)12.5–14.5 μm in length. Opegrapha sawyeriana Coppins occurs on the thallus of Coniocarpon cinnabarinum, also on Corylus bark, from oceanic western parts of Scotland, Ireland and southern England; in comparison to O. arthoniicola it has smaller, often scattered ascomata with a pigmented basal layer, 8-spored asci and slightly larger ascospores 13–14.5(–16) μm in length. Opegrapha hochstetteri Coppins has been found on thalli of Verrucaria hochstetteri and V. muralis on calcareous rocks and stonework in southern England and Luxembourg; collections were formerly identified as Opegrapha rupestris Pers. but it differs from this species by narrower ascomata with a persistent narrow slit, normally 6- rather than 8-spored asci and ascospores with pigmentation in the spore wall rather than the perispore. Lifted from synonymy is Opegrapha opaca Nyl. , which inhabits the thallus of Verrucaria nigrescens and V. viridula on calcareous rocks and stonework, and is so far recorded from southern England, Luxembourg, France, northern Spain and Israel. The hosts of the European species of lichenicolous Opegrapha on Verrucaria s. lat. on calcareous rocks (O. hochstetteri, O. opaca and O. rupestris) belong to different phylogenetic lineages within the Verrucariaceae. A key is also provided to the lichenicolous species of Opegraphaceae currently known from Great Britain and Ireland.
Sinuicella denisonii, a new genus and species in the Peltigeraceae from western North America

Abstract The new genus Sinuicella, an early successional lichen, was found on bare soil in Oregon, USA. The thallus is minute fruticose, grey to nearly black, branching isotomic dichotomous, branches round, 20–90 μm wide in water mount. The cortex is composed of interlocking cells shaped like jigsaw puzzle pieces. Spores are hyaline, 1-septate, 25–40(–50) × 6.5–9(–11) μm. Maximum likelihood phylogenetic analyses on multilocus data sets, first spanning the entire order Peltigerales and then restricted to Peltigeraceae with extended sampling from Solorina and Peltigera, revealed the placement of Sinuicella outside of currently recognized genera, sister to Peltigera, with high support. Based on the phylogenetic, morphological and ecological distinctness of Sinuicella, we formally introduce a new genus represented by the single species S. denisonii. The cyanobiont of S. denisonii is Nostoc from phylogroup XL, Clade 2, Subclade 3 based on the rbcLX marker.
Transport phenomena during direct metal deposition

The evolution of temperature and velocity fields during direct metal deposition with coaxial powder injection was simulated using a self-consistent three-dimensional model based on the solution of the equations of mass, momentum, energy conservation, and solute transport in the liquid pool. The basic physical phenomena, including heat transfer, phase changes, mass addition, fluid flow, and interactions between the laser beam and the coaxial powder flow, were considered in the model. The level-set method was implemented to track the evolution of the liquid/gas interface. The temperature and velocity fields, liquid/gas interface, and energy distribution at liquid/gas interface at different times were simulated. For verification purposes, the cladding depth and height were compared with experimental results.
Global incidence of intraventricular hemorrhage among extremely preterm infants: a systematic literature review

Abstract Objectives To conduct a systematic literature review to evaluate the global incidence of intraventricular hemorrhage grade 2–4 among extremely preterm infants. Methods We performed searches in MEDLINE and Embase for intraventricular hemorrhage and prematurity cited in English language observational studies published from May 2006 to October 2017. Included studies analyzed data from infants born at ≤28 weeks’ gestational age and reported on intraventricular hemorrhage epidemiology. Results Ninety-eight eligible studies encompassed 39 articles from Europe, 31 from North America, 25 from Asia, five from Oceania, and none from Africa or South America; both Europe and North America were included in two publications. The reported global incidence range of intraventricular hemorrhage grade 3–4 was 5–52% (Europe: 5–52%; North America: 8–22%; Asia: 5–36%; Oceania: 8–13%). When only population-based studies were included, the incidence range of intraventricular hemorrhage grade 3–4 was 6–22%. The incidence range of intraventricular hemorrhage grade 2 was infrequently documented and ranged from 5–19% (including population-based studies). The incidence of intraventricular hemorrhage was generally inversely related to gestational age. Conclusions Intraventricular hemorrhage is a frequent complication of extremely preterm birth. Intraventricular hemorrhage incidence range varies by region, and the global incidence of intraventricular hemorrhage grade 2 is not well documented.
Gut Microbiota and Obesity in Adults and Children: The State of the Art

In recent decades, obesity has become a serious public health problem affecting both children and adults. Considering the multifactorial origin of obesity, including modifiable factors, childhood was identified as the golden age for investing in obesity prevention by both promoting proper lifestyles and actively intervening in possible triggers. The gut microbiota is at the center of the most recent scientific studies and plays a key role in obesity development because it is intimately linked to energetic-humoral variations in the host: its alterations can promote a state of excessive energy storage, and it can be manipulated to maintain energy homoeostasis. This review aims to offer a panoramic understanding of the interplay between obesity and the gut microbiota, focusing on the contribution that the gut microbiota could have to the prevention of childhood obesity and its complications in adulthood. Currently, the use of some specific probiotic strains has been shown to be able to act on some secondary metabolic consequences of obesity (such as liver steatosis and insulin resistance) without any effect on weight loss. Although definitive conclusions cannot be drawn on the real impact of probiotics and prebiotics, there is no doubt that they represent an exciting new frontier in the treatment of obesity and associated metabolic dysfunctions. Targeted studies randomized on specific populations and homogeneous for ethnicity, sex, and age are urgently needed to reach definitive conclusions about the influence of microbiota on weight. In particular, we still need more studies in the pediatric population to better understand when the switch to an obese-like gut microbiota takes place and to better comprehend the right timing of each intervention, including the use of pre/probiotics, to improve it.
More Light? Opportunities and Pitfalls in Digitalized Psychotherapy Process Research

While the evidence on the effectiveness of different psychotherapies is often strong, it is not settled whereby and how these therapies work. Knowledge on the causal factors and change mechanisms is of high clinical and public relevance, as it contributes to the empirically informed advancement of psychotherapeutic interventions. Here, digitalized research approaches might possess the potential to generate new insights into human behavior change, contributing to augmented interventions and mental healthcare practices with better treatment outcomes. In this perspective article, we describe recent findings of research into change mechanisms that were only feasible with digital tools and outline important future directions for this rather novel branch of research. Furthermore, we indicate several challenges and pitfalls that are to be solved, in order to advance digitalized psychotherapy process research, both methodologically and technologically.
A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Heterozygous mutations in the Paired like homeobox 2b (PHOX2B) gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the autonomic nervous system. Most patients manifest sudden symptoms within 1 year of birth, mainly represented by central apnea and cyanosis episodes. The sudden appearance of hypoxic manifestations in CCHS and their occurrence during sleep resemble two other unexplained perinatal disorders, apparent life-threatening event (ALTE) and sudden and unexpected infant death (SUID), among which the vast majority is represented by sudden infant death syndrome (SIDS). Differently from CCHS, characterized by Mendelian autosomal dominant inheritance, ALTE and SIDS are complex traits, where common genetic variants, together with external factors, may exert an additive effect with symptoms likely manifesting only over a “threshold. ” Given the similarities observed among the three abovementioned perinatal disorders, in this work, we have analyzed the frequency of PHOX2B common variants in two groups of Italian idiopathic ALTE (IALTE) and SUIDs/SIDS patients. Here, we report that the c*161G>A (rs114290493) SNP of the 3′UTR PHOX2B (i) became overrepresented in the two sets of patients compared to population matched healthy controls, and (ii) associated with decreased PHOX2B gene expression, likely mediated by miR-204, a microRNA already known to bind the 3′UTR of the PHOX2B gene. Overall, these results suggest that, at least in the Italian population, the SNP c*161G>A (rs114290493) does contribute, presumably in association with others mutations or polymorphisms, to confer susceptibility to sudden unexplained perinatal life-threatening or fatal disorders by increasing the effect of miR-204 in inducing PHOX2B expression down-regulation. However, these are preliminary observations that need to be confirmed on larger cohorts to achieve a clinical relevance.