bluuebunny/crossref_metadata_2025_split huggingface dataset:
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Authors: Schalk Audrey , Cousin Margot A , Dsouza Nikita R , Challman Thomas D , Wain Karen E , Powis Zoe , Minks Kelly , Trimouille Aurélien , Lasseaux Eulalie , Lacombe Didier , Angelini Chloé , Michaud Vincent , Van-Gils Julien , Spataro Nino , Ruiz Anna , Gabau Elizabeth , Stolerman Elliot , Washington Camerun , Louie Ray , Lanpher Brendan C , Kemppainen Jennifer L , Innes Micheil , Kooy Frank , Meuwissen Marije , Goldenberg Alice , Lecoquierre Francois , Vera Gabriella , Diderich Karin E M , Sheidley Beth , El Achkar Christelle Moufawad , Park Meredith , Hamdan Fadi F , Michaud Jacques L , Lewis Ann J , Zweier Christiane , Reis André , Wagner Matias , Weigand Heike , Journel Hubert , Keren Boris , Passemard Sandrine , Mignot Cyril , van Gassen Koen , Brilstra Eva H , Itzikowitz Gina , O'Heir Emily , Allen Jake , Donald Kirsten A , Korf Bruce Richard , Skelton Tammi , Thompson Michelle , Robin Nathaniel H , Rudy Natasha L , Dobyns William B , Foss Kimberly , Zarate Yuri Alexander , Bosanko Katherine A , Alembik Yves , Durand Benjamin , Tran Mau-them Frederic , Ranza Emmanuelle , Blanc Xavier , Antonarakis Stylianos E , McWalter Kirsty , Torti Erin , Millan Francisca , Dameron Amy , Tokita Mari , Zimmermann Michael T , Klee Eric W , Piton Amelie , Gerard Benedicte 
Published: December 2021

BackgroundHigh-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).MethodsThis study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been verified (26/28).ResultsA total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del). AGO1 encodes the Argonaute 1 protein, which functions in gene-silencing pathways mediated by small non-coding RNAs. Three-dimensional protein structure predictions suggest that these variants might alter the flexibility of the AGO1 linker domains, which likely would impair its function in mRNA processing. Affected individuals present with intellectual disability of varying severity, as well as speech and motor delay, autistic behaviour and additional behavioural manifestations.ConclusionOur study establishes that de novo coding variants in AGO1 are involved in a novel monogenic form of NDD, highly similar to the recently reported AGO2-related NDD.
Development of the UNC Perceived Message Effectiveness Scale for Youth
Authors: Noar Seth M , Gottfredson Nisha , Vereen Rhyan N , Kurtzman Rachel , Sheldon Jennifer Mendel , Adams Elizabeth , Hall Marissa G , Brewer Noel T 
Published: December 2021

PurposeTobacco prevention media campaigns are an important tool to address youth tobacco use. We developed a theory-based perceived message effectiveness (PME) Scale to use when vetting messages for campaigns.MethodsParticipants were a national sample of N=623 US adolescents (ages 13–17 years) recruited from a national probability-based panel. In an online experiment, we randomised adolescents to view tobacco prevention ads. All participants viewed an ad on smoking or vaping from the US Food and Drug Administration’sThe Real Costcampaign and a control video, in a random order. After ad exposure, we assessed PME using nine candidate items and constructs for convergent and criterion validity analyses. We used confirmatory factor analysis and examined information curves to select the scale items.ResultsA brief PME scale with three items (α=0.95) worked equally well for demographically diverse adolescents with different patterns of tobacco use.The Real Costads generated higher PME scores than the control videos for both vaping and smoking (convergent validity; p<0.05). Higher PME scores were associated with greater attention, fear, cognitive elaboration and anticipated social interactions (convergent validity; r=0.31–0.66), as well as more negative attitudes toward and lower susceptibility to vaping and smoking (criterion validity; r=−0.14 to −0.37). A single-item PME measure performed similarly to the three-item version.ConclusionsThe University of North Carolina PME Scale for Youth is a reliable and valid measure of the potential effectiveness of vaping and smoking prevention ads. Employing PME scales during message development and selection may help youth tobacco prevention campaigns deploy more effective ads.
Deep reinforcement learning for universal quantum state preparation via dynamic pulse control
Authors: He Run-Hong , Wang Rui , Nie Shen-Shuang , Wu Jing , Zhang Jia-Hui , Wang Zhao-Ming 
Published: December 2021

AbstractAccurate and efficient preparation of quantum state is a core issue in building a quantum computer. In this paper, we investigate how to prepare a certain single- or two-qubit target state from arbitrary initial states in semiconductor double quantum dots with only a few discrete control pulses by leveraging the deep reinforcement learning. Our method is based on the training of the network over numerous preparing tasks. The results show that once the network is well trained, it works for any initial states in the continuous Hilbert space. Thus repeated training for new preparation tasks is avoided. Our scheme outperforms the traditional optimization approaches based on gradient with both the higher efficiency and the preparation quality in discrete control space. Moreover, we find that the control trajectories designed by our scheme are robust against stochastic fluctuations within certain thresholds, such as the charge and nuclear noises.
Sex‐Related Differences in Mortality Following Admission for Acute Heart Failure Across the Left Ventricular Ejection Fraction Spectrum
Authors: Santas Enrique , Palau Patricia , Llácer Pau , de la Espriella Rafael , Miñana Gema , Núñez‐Marín Gonzalo , Lorenzo Miguel , Heredia Raquel , Sanchis Juan , Chorro Francisco Javier , Bayés‐Genís Antoni , Núñez Julio 
Published: December 2021

Background
Following a heart failure (HF)‐decompensation, there is scarce data about sex‐related prognostic differences across left ventricular ejection fraction (LVEF) status. We sought to evaluate sex‐related differences in 6‐month mortality risk across LVEF following admission for acute HF.

Methods and Results

We retrospectively evaluated 4812 patients consecutively admitted for acute HF in a multicenter registry from 3 hospitals. Study end points were all‐cause, cardiovascular, and HF‐related mortality at 6‐month follow‐up. Multivariable Cox regression models were fitted to investigate sex‐related differences across LVEF. A total of 2243 (46.6%) patients were women, 2569 (53.4%) were men, and 2608 (54.2%) showed LVEF≥50%. At 6‐month follow‐up, 645 patients died (13.4%), being 544 (11.3%) and 416 (8.6%) cardiovascular and HF‐related deaths, respectively. LVEF was not independently associated with mortality (HR, 1.02; 95% CI 0.99–1.05;
P
=0.135). After multivariable adjustment, we found no sex‐related differences in all‐cause mortality (
P
value for interaction=0.168). However, a significant interaction between sex and cardiovascular and HF mortality risks was found across LVEF (
P
value for interaction=0.030 and 0.007, respectively). Compared with men, women had a significantly lower risk of cardiovascular and HF‐mortality at LVEF<25% and <43%, respectively. On the contrary, women showed a higher risk of HF‐mortality at the upper extreme of LVEF (>80%).

Conclusions
Following an admission for acute HF, no sex‐related differences were found in all‐cause mortality risk. However, when compared with men, women showed a lower risk of cardiovascular and HF‐mortality at the lower extreme of LVEF. On the contrary, they showed a higher risk of HF death at the upper extreme.
Action Theory in the Respective Hermeneutics of Hans-Georg Gadamer and Chung-ying Cheng
Authors: Brasovan Nicholas S. 
Published: December 2021

Abstract
This article advances a dialogue between the philosophical hermeneutics of Hans-Georg Gadamer and the ontological hermeneutics of Chung-ying Cheng. This discussion draws into relief a question of whether or not these respective theories provide us with decision-making procedures for determining appropriate or right action in any given situation. In other words, we are inquiring into whether or not these respective hermeneutical theories incorporate forms of ethics. Following this line of questioning, we turn to Cheng’s philosophy of the Yijing and Gadamer’s analysis of Aristotle’s ethics.
Emerging Phonology Under Language Contact: The Case of Sino-Russian Idiolects
Authors: Frajzyngier Zygmunt , Gurian Natalia , Karpenko Sergei 
Published: December 2021

Abstract
The main aim of this study is to examine what kind of phonological system emerges because of language contact wherein adult speakers of L1 (Chinese) attempt to speak L2 (Russian) without any previous instruction in L2. The main findings of this study are as follows: a) The speakers of L1 largely adopt the phonetic inventory and phonotactics of L2 and b) the only underlying (distinctive) features in the emerging phonological system are those of place of articulation while voicing plays no distinctive role in the emerging phonological system of Chinese speakers. Moreover, the speakers of L1 faithfully replicate the stress system of L2, even though L1 (Chinese) is a tonal language and L2, Russian, is a stress language. The most important finding of this study is that speakers of L1 discern the entity ‘word’ in L2. The emerging phonological system is geared towards assuring the identifiability of words in L2 rather than towards consistency of phonological rules.
An Idealized 1½-Layer Isentropic Model with Convection and Precipitation for Satellite Data Assimilation Research. Part I: Model Dynamics
Authors: Cantarello Luca , Bokhove Onno , Tobias Steven 
Published: December 2021

Abstract
An isentropic 1½-layer model based on modified shallow-water equations is presented, including terms mimicking convection and precipitation. This model is an updated version of the isopycnal single-layer modified rotating shallow water (modRSW) model. The clearer link between fluid temperature and model variables together with a double-layer structure make this revised, isentropic model a more suitable tool to achieve our future goal: to conduct idealized experiments for investigating satellite data assimilation. The numerical model implementation is verified against an analytical solution for stationary waves in a rotating fluid, based on Shrira’s methodology for the isopycnal case. Recovery of the equivalent isopycnal model is also verified, both analytically and numerically. With convection and precipitation added, we show how complex model dynamics can be achieved exploiting rotation and relaxation to a meridional jet in a periodic domain. This solution represents a useful reference simulation or “truth” in conducting future (satellite) data assimilation experiments, with additional atmospheric conditions and data. A formal analytical derivation of the isentropic 1½-layer model from an isentropic two-layer model without convection and precipitation is shown in a companion paper (Part II).
An Idealized 1½-Layer Isentropic Model with Convection and Precipitation for Satellite Data Assimilation Research. Part II: Model Derivation
Authors: Bokhove Onno , Cantarello Luca , Tobias Steven 
Published: December 2021

AbstractIn this Part II paper we present a fully consistent analytical derivation of the “dry” isentropic 1½-layer shallow-water model described and used in Part I of this study, with no convection and precipitation. The mathematical derivation presented here is based on a combined asymptotic and slaved Hamiltonian analysis, which is used to resolve an apparent inconsistency arising from the application of a rigid-lid approximation to an isentropic two-layer shallow-water model. Real observations based on radiosonde data are used to justify the scaling assumptions used throughout the paper, as well as in Part I. Eventually, a fully consistent isentropic 1½-layer model emerges from imposing fluid at rest (v1= 0) and zero Montgomery potential (M1= 0) in the upper layer of an isentropic two-layer model.
Radiative Cooling, Latent Heating, and Cloud Ice in the Tropical Upper Troposphere
Authors: Sokol Adam B. , Hartmann Dennis L. 
Published: December 2021

Abstract
The radiative cooling rate in the tropical upper troposphere is expected to increase as climate warms. Since the tropics are approximately in radiative–convective equilibrium (RCE), this implies an increase in the convective heating rate, which is the sum of the latent heating rate and the eddy heat flux convergence. We examine the impact of these changes on the vertical profile of cloud ice amount in cloud-resolving simulations of RCE. Three simulations are conducted: a control run, a warming run, and an experimental run in which there is no warming but a temperature forcing is imposed to mimic the warming-induced increase in radiative cooling. Surface warming causes a reduction in cloud fraction at all upper-tropospheric temperature levels but an increase in the ice mixing ratio within deep convective cores. The experimental run has more cloud ice than the warming run at fixed temperature despite the fact that their latent heating rates are equal, which suggests that the efficiency of latent heating by cloud ice increases with warming. An analytic expression relating the ice-related latent heating rate to a number of other factors is derived and used to understand the model results. This reveals that the increase in latent heating efficiency is driven mostly by 1) the migration of isotherms to lower pressure and 2) a slight warming of the top of the convective layer. These physically robust changes act to reduce the residence time of ice at any particular temperature level, which tempers the response of the mean cloud ice profile to warming.

Significance Statement
Here we examine how the amount of condensed ice in part of the atmosphere—the tropical upper troposphere (UT)—responds to global warming. In the UT, the energy released during ice formation is balanced by the emission of radiation to space. This emission will strengthen with warming, suggesting that there will also be more ice. Using a model of the tropical atmosphere, we find that the increase in ice amount is mitigated by a reduction in the amount of time ice spends in the UT. This could have important implications for the cloud response to global warming, and future work should focus on how these changes are manifested across the distribution of convective cloud types.
Patients’ Shift from Public to Private Primary Health Care Providers in Lithuania: Analysis of the Main Reasons
Authors: Žvinakis Paulius , Kalibataitė Roberta , Kalibatas Vytenis 
Published: December 2021

Aims Lithuania is one of the countries where public and private primary health care (PHC) providers compete for patients. Patients continuously shift from public to PHC providers, but an analysis of the main reasons was never performed. This study aimed to analyze the reasons why patients shift from public to private PHC providers and identify the associations between the reasons and demographic characteristics of the patients. Methods A cross-sectional study based on a phone questionnaire was conducted among patients who shifted from public to private primary health care (PHC) providers. A total of 810 phone calls were made, and 572 telephone surveys were completed. The response rate was 70.49%. The difference between the proportions was assessed using the Z-test. The association between categorical variables was assessed using the chi-square test. Results The study identified the following main reasons: long queues to obtain family physician appointments (23.6%), inconvenient location of public’s institution department (20.1%), patients relocating (19.2%), enrolment at a former family physician who transitioned from a public to private PHC institution (10.5%), and long waiting time at the family physician’s office for the appointment (9.4%). Some statistically significant correlations were found between the specific reasons for shifting from public to private PHC organizations and patients' demographic characteristics. Conclusions Personal reasons are the most common reasons for shifting from public to private PHC providers (43.36% of the respondents), following the reasons related exclusively to the family physician (25.17%) and related PHC institutions only (24.9%).
Evaluating the Influence of COVID-19 Among Dental Practitioners After Lockdown
Authors: Abrar Eisha , Abduljabbar Adel S. , Naseem Mustafa , Panhwar Maryam , Vohra Fahim , Abduljabbar Tariq 
Published: December 2021

Clinical activities at dental premises after the COVID-19 lockdown period or post-COVID-19 are likely to be a challenge for all practicing dentists. To assess the impact of the COVID-19 pandemic on dentists and change in dental practice following lockdown, a total of 1150 participants were approached through online survey forms registered on www.surveys.google . A link containing details of the questionnaire and a consent form was sent to dentists through emails and social media forums. The questionnaire included 3 domains comprising of seventeen questions. The first section focused on demographics. The second section inquired about the change in dental practice, that is, clinical hours, use of PPE, type of treatment, and patient flow. The third section investigated the impact of COVID-19 on dentistry. Means, standard deviation, and percentages were calculated using descriptive statistics. Chi-square was used to find an association between different variables. The response rate was 87%. Demographic factors revealed participants aged from 20.45 to 40.55 years. The data showed around 89.6% (896) of dentists have altered their clinical working hours post lockdown and, approximately, 59.7% (597) of dentists provided only emergency treatments. 88.1% (881) of the dentists wore PPE during dental procedures. Overall, a huge negative impact of the COVID-19 pandemic was observed among practicing dentists in terms of the dental supply chain, cost, and availability of dental equipment, treatment cost, and bill payments.COVID-19 pandemic compromised dental care. Though dentists were taking precautionary measures and have changed their practice according to the guidelines provided by the ADA and World Health Organization, they were still experiencing monetary loss due to decrease patient influx post lockdown.
Care practices of specialized outpatient pediatric palliative care teams in collaboration with parents: Results of participatory observations
Authors: Schuetze Dania , Ploeger Cornelia , Hach Michaela , Seipp Hannah , Kuss Katrin , Bösner Stefan , Gerlach Ferdinand M , van den Akker Marjan , Erler Antje , Engler Jennifer 
Published: December 2021

Background: Collaboration between parents and professional care providers is an essential part of pediatric palliative care. As children are embedded in family systems and many of the patients are not able to communicate verbally, their parents are the primary interaction partners for palliative care providers. International standards for pediatric palliative care in Europe state that parents should be supported, acknowledged as the primary carers and involved as partners in all care and decisions. Aim: To find out through which care practices pediatric palliative care teams shape collaboration with parents in everyday care. Design: Ethnographic method of participatory observations. Field notes were analyzed using thematic analysis. Setting/participants: Researchers accompanied three pediatric palliative care teams on home visits to eight different families caring for a child with life-limiting conditions. Results: Care practices of palliative care teams were characterized by familiarity, a resource-oriented attitude, empowerment of parents, shared decision-making and support for parents. Palliative care teams not only provided palliative medical treatment for the children, but also developed a trusting care partnership with parents. The teams employed a sensitive and multifaceted communication style in their collaboration with parents. Conclusions: Care practices in pediatric palliative care require time, communication skills, and a high level of psychosocial competence, to develop a trusting, collaborative relationship with parents. This should be taken into consideration when establishing pediatric palliative care structures, preparing guidelines, training staff, and deciding upon appropriate remuneration.
Systematic validation of structural brain networks in cerebral small vessel disease
Authors: Dewenter Anna , Gesierich Benno , ter Telgte Annemieke , Wiegertjes Kim , Cai Mengfei , Jacob Mina A , Marques José P , Norris David G , Franzmeier Nicolai , de Leeuw Frank-Erik , Tuladhar Anil M , Duering Marco 
Published: December 2021

Cerebral small vessel disease (SVD) is considered a disconnection syndrome, which can be quantified using structural brain network analysis obtained from diffusion MRI. Network analysis is a demanding analysis approach and the added benefit over simpler diffusion MRI analysis is largely unexplored in SVD. In this pre-registered study, we assessed the clinical and technical validity of network analysis in two non-overlapping samples of SVD patients from the RUN DMC study (n = 52 for exploration and longitudinal analysis and n = 105 for validation). We compared two connectome pipelines utilizing single-shell or multi-shell diffusion MRI, while also systematically comparing different node and edge definitions. For clinical validation, we assessed the added benefit of network analysis in explaining processing speed and in detecting short-term disease progression. For technical validation, we determined test-retest repeatability. Our findings in clinical validation show that structural brain networks provide only a small added benefit over simpler global white matter diffusion metrics and do not capture short-term disease progression. Test-retest reliability was excellent for most brain networks. Our findings question the added value of brain network analysis in clinical applications in SVD and highlight the utility of simpler diffusion MRI based markers.