julilili42/papers huggingface dataset:
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
2022-05-23

Abstract Introduction Arthrogryposis is characterized by the presence of multiple contractures at birth and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not expressed in one of the three major isoforms of titin are referred to as “metatranscript-only” and have been considered to be only expressed during fetal development. Recently, the metatranscript-only variant (c.39974–11T &gt; G) in TTN with a second truncating TTN variant has been linked to arthrogryposis multiplex congenita and myopathy. Methods Via exome sequencing we identified the TTN c.39974–11T &gt; G splice variant in trans with one of three truncating variants (p.Arg8922*, p.Lys32998Asnfs*63, p.Tyr10345*) in five individuals from three families. Clinical presentation and muscle ultrasound as well as MRI images were analyzed. Results All five patients presented with generalized muscular hypotonia, reduced muscle bulk, and congenital contractures most prominently affecting the upper limbs and distal joints. Muscular hypotonia persisted and contractures improved over time. One individual, the recipient twin in the setting of twin-to-twin transfusion syndrome, died from severe cardiac hypertrophy 1 day after birth. Ultrasound and MRI imaging studies revealed a recognizable pattern of muscle involvement with striking fibrofatty involvement of the hamstrings and calves, and relative sparing of the femoral adductors and anterior segment of the thighs. Conclusion The recurrent TTN c.39974–11T &gt; G variant consistently causes congenital arthrogryposis and persisting myopathy providing evidence that the metatranscript-only 213 to 217 exons impact muscle elasticity during early development and beyond. There is a recognizable pattern of muscle involvement, which is distinct from other myopathies and provides valuable clues for diagnostic work-up.
Domestication and the comparative embryology of birds
2022-05-23

Abstract Studies of domesticated animals have greatly contributed to our understanding of avian embryology. Foundational questions in developmental biology were motivated by Aristotle's observations of chicken embryos. By the 19th century, the chicken embryo was at the center stage of developmental biology, but how closely does this model species mirror the ample taxonomic diversity that characterizes the avian tree of life? Here, we provide a brief overview of the taxonomic breadth of comparative embryological studies in birds. We particularly focused on staging tables and papers that attempted to document the timing of developmental transformations. We show that most of the current knowledge of avian embryology is based on Galliformes (chicken and quail) and Anseriformes (duck and goose). Nonetheless, data are available for some ecologically diverse avian subclades, including Struthioniformes (e.g., ostrich, emu) and Sphenisciformes (penguins). Thus far, there has only been a handful of descriptive embryological studies in the most speciose subclade of Aves, that is, the songbirds (Passeriniformes). Furthermore, we found that temporal variances for developmental events are generally uniform across a consensus chronological sequence for birds. Based on the available data, developmental trajectories for chicken and other model species appear to be highly similar. We discuss future avenues of research in comparative avian embryology in light of the currently available wealth of data on domesticated species and beyond.
Moving Beyond Antagonisms: Changing Masculinities in Post-Conflict Militaries
2022-05-23

In this paper, I theorize and empirically illustrate how security sector reforms (SSR) can transform violence-centred masculinities in post-conflict militaries. I argue that substantial change of such gender roles depends on challenging the power that is institutionally inscribed into the constructed antagonisms between (1) men and women, (2) fighters and civilians, and (3) perpetrators and victims of violence. A case study on changing masculinities within the Armed Forces of Liberia (AFL) via SSR illustrates this argument. During the violent conflict in Liberia between 1989 and 2003, the AFL infamously perpetrated large-scale violence against civilians, enacting particularly violent forms of masculinity. After the war, the AFL was dissolved and rebuilt with an emphasis on human rights and, partly, gender mainstreaming. Drawing from interviews with multiple stakeholders and practice-theoretical reasoning, the paper renders empirically and theoretically tangible that SSR can change institutional constructions of masculinity by challenging socially constructed antagonisms that give power to men, fighters, and perpetrators.
Data provenance for recursive SQL queries
2022-05-23

The adoption of recursion in SQL---framed either in terms of recursive common table expressions (CTEs) or recursive user-defined functions (UDFs)---marked a jump in the expressivity of the query language. The resulting queries can perform complex computation close to database-resident data but, at the same time, often prove challenging to understand and debug. We build on earlier work on the derivation of where- and why-provenance for complex (yet non-recursive) SQL queries to also embrace recursive SQL CTEs and UDFs. Fine-grained data provenance for recursive SQL is derived through language-level query rewriting and a two-phase evaluation strategy that does not invade the underlying RDBMS.
TuLeD. Tupían Lexical Database
2022-05-23

Cite the source of the dataset as:\\n\\n\\n\\n\\nFabrício Ferraz Gerardi, Stanislav Reichert, Carolina Aragon, Johann-Mattis List, &amp;amp; Tim Wientzek. (2021). TuLeD: Tupían lexical database. Max Planck Institute for Evolutionary Anthropology: Leipzig\\n
A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile
2022-05-24

Abstract Pediatric nodal marginal zone lymphoma (PNMZL) is an uncommon B-cell neoplasm affecting mainly male children and young adults. This indolent lymphoma has distinct characteristics that differ from those of conventional nodal marginal zone lymphoma (NMZL). Clinically, it exhibits overlapping features with pediatric-type follicular lymphoma (PTFL). To explore the differences between PNMZL and adult NMZL and its relationship to PTFL, a series of 45 PNMZL cases were characterized morphologically and genetically by using an integrated approach; this approach included whole-exome sequencing in a subset of cases, targeted next-generation sequencing, and copy number and DNA methylation arrays. Fourteen cases (31%) were diagnosed as PNMZL, and 31 cases (69%) showed overlapping histologic features between PNMZL and PTFL, including a minor component of residual serpiginous germinal centers reminiscent of PTFL and a dominant interfollicular B-cell component characteristic of PNMZL. All cases displayed low genomic complexity (1.2 alterations per case) with recurrent 1p36/TNFRSF14 copy number–neutral loss of heterozygosity alterations and copy number loss (11%). Similar to PTFL, the most frequently mutated genes in PNMZL were MAP2K1 (42%), TNFRSF14 (36%), and IRF8 (34%). DNA methylation analysis revealed no major differences between PTFL and PNMZL. Genetic alterations typically seen in conventional NMZL were absent in PNMZL. In summary, overlapping clinical, morphologic, and molecular findings (including low genetic complexity; recurrent alterations in MAP2K1, TNFRSF14, and IRF8; and similar methylation profiles) indicate that PNMZL and PTFL are likely part of a single disease with variation in the histologic spectrum. The term “pediatric-type follicular lymphoma with and without marginal zone differentiation” is suggested.
NNLO nuclear parton distribution functions with electroweak-boson production data from the LHC
2022-05-24

We present new sets of nuclear parton distribution functions (nPDFs) at next-to-leading order and next-to-next-to-leading order in perturbative QCD. Our analyses are based on deeply inelastic scattering data with charged-lepton and neutrino beams on nuclear targets, and experimental data from measurements of W-+/-, Z boson production in p + Pb collisions at the LHC. In addition, a set of proton baseline PDFs is fitted within the same framework and with the same theoretical assumptions. The results of our global QCD analysis are compared to existing nPDF sets and to the previous nPDF set TUJU19, which was based on deep-inelastic scattering data only. Our work is performed using an open-source tool, XFITTER, and the required extensions of the code are discussed as well. We find good agreement with the data included in the fit and a lower value for chi(2)/N-dp when performing the fit at next-to-next-to-leading order. We apply the resulting nuclear PDFs to electroweak boson production in Pb + Pb collisions at the LHC and compare the results to the most recent data from ATLAS and CMS.
Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease
2022-05-24

Abstract Introduction As knowledge about neurological examination findings in autosomal dominant Alzheimer disease (ADAD) is incomplete, we aimed to determine the frequency and significance of neurological examination findings in ADAD. Methods Frequencies of neurological examination findings were compared between symptomatic mutation carriers and non mutation carriers from the Dominantly Inherited Alzheimer Network (DIAN) to define AD neurological examination findings. AD neurological examination findings were analyzed regarding frequency, association with and predictive value regarding cognitive decline, and association with brain atrophy in symptomatic mutation carriers. Results AD neurological examination findings included abnormal deep tendon reflexes, gait disturbance, pathological cranial nerve examination findings, tremor, abnormal finger to nose and heel to shin testing, and compromised motor strength. The frequency of AD neurological examination findings was 65.1%. Cross‐sectionally, mutation carriers with AD neurological examination findings showed a more than two‐fold faster cognitive decline and had greater parieto‐temporal atrophy, including hippocampal atrophy. Longitudinally, AD neurological examination findings predicted a significantly greater decline over time. Discussion ADAD features a distinct pattern of neurological examination findings that is useful to estimate prognosis and may inform clinical care and therapeutic trial designs.
A qualitative study of gendered psychosocial processes in eating disorder development
2022-05-24

Abstract Objective Gender and sexual identity constitute social categories that have been found to be important when identifying persons at risk for eating disorders (ED), since prevalence rates are especially high for women as well as persons of gender and sexual minorities. The objective of this study is to enhance the understanding of how these social categories relate to ED development. Method A qualitative, inductive approach was used in order to develop empirically grounded hypotheses about gendered aspects in ED development. Data are 14 narrative interviews with persons of diverse sexual and gender identities who recovered from anorexia or bulimia nervosa. Interviews were analyzed in depth using Grounded Theory Methodology and Voice Centered Listening. Results Results suggest that social experiences related to female gender, as well as social experiences related to non‐compliance with social gender norms, can be important for ED development. Those social experiences were described as influencing participants' self‐worth, body image and self‐regulatory strategies, which were connected to ED symptomatology. Discussion Future research should further validate the gendered aspects presented in this paper, since including a broader array of gendered social aspects in ED research might help to improve etiological understanding and prevention methods. Public Significance Statement This study contributes a special perspective to research on eating disorders and gender, because it is based on first‐person perspectives of formerly affected persons and integrates the experiences of persons with different gender and sexual identities. Participants described four categories of gendered social experiences relevant for their eating disorders. We discuss the potential of these categories to guide future research on the development of eating disorders and their prevention.
Math4Speed - a freely available measure of arithmetic fluency
2022-05-24

We introduce the Math4Speed (M4S), a paper-and-pencil measure incorporating the four arithmetic operations with items of varying complexity. M4S consists of 50 addition, 50 subtraction, 50 multiplication, and 50 division problems, limited to 2 min per operation. The psychometric evaluation was conducted by combining convenience samples of young adults (N = 1165), who were mainly university students (77.2%), from six European countries (UK, Belgium, Germany, Poland, Greece, and Spain). Reliability and validity were satisfactory. Construct validity was reflected in the largest associations between inverse operations (e.g., multiplication and division). Convergent and divergent validity were reflected in higher associations of the M4S with other arithmetic measures than with a spelling test. As a freely available measure, M4S will be widely accessible and will in this first step allow cross-study comparison for typical experimental samples. In the next step, we invite all researchers to contribute to further development of M4S by providing more culturally diverse, minority or representative samples to broaden the use cases of this screening of arithmetic fluency and enable more generalizability. Interested contributors can get in contact via email (math4speed@psychologie.uni-tuebingen.de).
A Serious Game for the Prevention of Obesity in School Children–Impact of Parent’s Involvement: A Randomized Controlled Trial
2022-05-24

Serious games convey information and use interactive components to reinforce and train behaviours. A serious game addressing nutrition, physical activity and stress coping—the Kids Obesity Prevention Program (KOP)—was previously evaluated for efficacy in children. This study aimed at evaluating the KOP-game regarding: (i) its acceptance and efficacy with respect to parents of primary school children receiving the same game intervention as the children; and (ii) whether the children could benefit by parental involvement. A randomized controlled trial with two groups of children aged 9 to 12 years was conducted which included a 6-month follow-up period. All children played the game twice in two weeks. In the family-intervention group, the parents additionally played the game. The primary outcome was the gain in knowledge in parents and children measured with a pretested questionnaire. The secondary outcomes were knowledge maintenance as well as several behavior changes. Parents and children in both groups improved and maintained their knowledge equally. The KOP-game increases knowledge of nutrition in children independently of the involvement of their parents. KOP games are well accepted in children; further research should examine the structured involvement of parents.
Phosphorus transversal relaxation times and metabolite concentrations in the human brain at 9.4 T
2022-05-24

A method to estimate phosphorus ( 31 P) transversal relaxation times (T 2 s) of coupled spin systems is demonstrated. Additionally, intracellular and extracellular pH and relaxation‐corrected metabolite concentrations are reported. Echo time (TE) series of 31 P metabolite spectra were acquired using stimulated echo acquisition mode (STEAM) localization. Spectra were fitted using LCModel with accurately modeled Versatile Simulation, Pulses and Analysis (VeSPA) basis sets accounting for J‐evolution of the coupled spin systems. T 2 s were estimated by fitting a single exponential two‐parameter model across the TE series. Fitted inorganic phosphate frequencies were used to calculate pH, and estimated relaxation times were used to determine the relaxation‐corrected brain metabolite concentrations on an assumption of 3 mM γ‐ATP. The method was demonstrated in healthy human brain at a field strength of 9.4 T. T 2 times of ATP and nicotinamide adenine dinucleotide (NAD) were shortest between 8 and 20 ms, followed by T 2 s of inorganic phosphate between 25 and 50 ms, and phosphocreatine with a T 2 of 100 ms. Phosphomonoesters and phosphodiesters had the longest T 2 s of about 130 ms. The measured T 2 s are comparable with literature values and fit in a decreasing trend with increasing field strengths. Calculated pHs and metabolite concentrations are also comparable with literature values.
Uniqueness of convex ancient solutions to hypersurface flows
2022-05-24

Abstract We show that every convex ancient solution of mean curvature flow with Type I curvature growth is either spherical, cylindrical, or planar. We then prove the corresponding statement for flows by a natural class of curvature functions which are convex or concave in the second fundamental form. Neither of these results assumes interior noncollapsing.
On the inhibition of RNA silencing movement by the tombusvirus P19 protein: reliance on sRNA binding and correlation with local silencing suppression
2022-05-24

EA is the recipient of a Young Investigator Grant from the NSFC ofChina (grant no. 31950410534), and a Marie Skłodowska-Curiegrant from the European Union’s Horizon 2020 Research andInnovation Programme (grant no. 896910-GeminiDECODER).Research in the Lozano-Dur an lab is also partially funded by theFederal Ministry of Education and Research (BMBF) and theBaden-W€urttemberg Ministry of Science as part of the ExcellenceStrategy of the German Federal and State Governments
Atherosclerotic plaque composition and specific endovascular considerations in the end stage renal disease patients: a narrative review
2022-05-24

Management and endovascular procedures of patients with ESRD are complex. In the course of time, new endovascular therapy methods have been developed such as directional atherectomy (DA) and the so-called "pave-and-crack" technique to deal with high vascular calcium burden. Besides interventional therapy, vascular patients with CKD benefit from aggressive medical management.
Modular architecture facilitates noise-driven control of synchrony in neuronal networks
2022-05-24

Brain functions require both segregated processing of information in specialized circuits, as well as integration across circuits to perform high-level information processing. One possible way to implement these seemingly opposing demands is by flexibly switching between synchronous and less synchronous states. Understanding how complex synchronization patterns are controlled by the interaction of network architecture and external perturbations is thus a central challenge in neuroscience, but the mechanisms behind such interactions remain elusive. Here, we utilise precision neuroengineering to manipulate cultured neuronal networks and show that a modular architecture facilitates desynchronization upon asynchronous stimulation, making external noise a control parameter of synchrony. Using spiking neuron models, we then demonstrate that external noise can reduce the level of available synaptic resources, which make intermodular interactions more stochastic and thereby facilitates the breakdown of synchrony. Finally, the phenomenology of stochastic intermodular interactions is formulated into a mesoscopic model that incorporates a state-dependent gating mechanism for signal propagation. Taken together, our results demonstrate a network mechanism by which asynchronous inputs tune the inherent dynamical state in structured networks of excitable units.
Comment on egusphere-2022-128
2022-05-24

<strong class="journal-contentHeaderColor">Abstract.</strong> Ice rises and ice rumples are locally grounded features found in coastal Antarctica and are surrounded by otherwise freely floating ice shelves. An ice rise has an independent flow regime, whereas the flow regime of an ice rumple conforms to that of the ice shelf and merely slows the flow of ice. In both cases, local highs in the bathymetry are in contact with the ice shelf from below, thereby regulating the large-scale ice flow, with implications for the upstream continental grounding line position. This buttressing effect, paired with the suitability of ice rises as a climate archive, necessitates a better understanding of the transition between ice rise and ice rumple, their evolution in response to a change in sea level, and their dynamic interaction with the surrounding ice shelf. We investigate this behaviour using a three-dimensional full Stokes ice flow model. The simulations span end-member basal friction scenarios of almost stagnant and fully sliding ice at the ice-bed interface. We analyse the coupling with the surrounding ice shelf by comparing the deviations between the non-local full Stokes surface velocities and the local shallow ice approximation (SIA). Deviations are generally high at the ice divides and small on the lee sides. On the stoss side, where ice rise and ice shelf have opposing flow directions, deviations can be significant. Differences are negligible in the absence of basal sliding where the corresponding steady state ice rise is larger and develops a fully independent flow regime that is well described by SIA. When sea level is increased and a transition from ice rise to ice rumple is approached, the divide migration is more abrupt the higher the basal friction. In each scenario, the transition occurs after the stoss side grounding line has moved over the bed high and is positioned on a retrograde slope. We identify a hysteretic response of ice rises and ice rumples to changes in sea level, with grounded area being larger in a sea level increase scenario than in a sea level decrease scenario. This hysteresis not only shows irreversibility following an equal increase and subsequent decrease in sea level, but also has important implications for ice flow model initialisation. The initial grounded area needs to be carefully considered, as this will determine the formation of either an ice rise or an ice rumple, thereby causing different buttressing effects.
Assessment of urine sample quality by the simultaneous measurement of urinary γ-glutamyltransferase and lactate dehydrogenase enzyme activities: possible application to unravel cheating in drugs of abuse testing
2022-05-24

Abstract Objectives Evaluation of the simultaneous measurement of urinary γ-glutamyltransferase (γGT) and lactate dehydrogenase (LDH) to discriminate fresh from previously frozen specimens in urine drug monitoring. Methods Two widely available photometric tests (Siemens Healthineers Atellica) were used to determine the range of urinary γGT and LDH excretion and to study the decay in urinary enzyme activity under various storage conditions (room temperature, 4–8 °C, −18 °C, −80 °C). From these data, cut-off values were established and evaluated in split (fresh/frozen) specimens. Results Both assays allow robust, reliable, and simultaneous determination of urinary γGT and LDH. In healthy subjects, the 95% reference intervals for enzyme activity in native urine were γGT: 24.4–100.4 U/g Crea (creatinine) and LDH: 2.5–45.8 U/g Crea. Frozen storage for at least 7 days at −18 °C resulted in a loss of activity to less than 50% in both enzymes. Cut-offs for frozen samples were γGT≤33.2 U/g Crea and LDH≤ 8.4 U/g Crea. When applied to 100 sample pairs (fresh/frozen), 86.5% (173/200) of the measurements were conclusive and the combination of concordant enzyme measurements (low γGT/low LDH or high γGT/high LDH) was able to predict the mode of storage with a sensitivity of 96.3% and a specificity of 96.7%. Conclusions The additional measurements of urinary γGT and LDH can be used to detect previously frozen urine specimens. A simple protocol is proposed to provide additional information on sample quality when deceit is suspected. The procedure can be easily integrated into the standard workflow of urinary drug monitoring.