bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia
Authors: Abuzenadah Adel , Alganmi Nofe , AlQurashi Raghad , Hawsa Esraa , AlOtibi Abdullah , Hummadi Abdulrahman , Nahari Ahmed Ali , AlZelaye Somaya , Aljuhani Nasser R. , Al-Attas Manal , Abusamra Heba , Turkistany Shereen , Karim Sajjad , Mirza Zeenat , Al-Qahtani Mohammed , Chaudhary Adeel , Al Eissa Mariam M. 
Published: January 2024

Abstract
Background
Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia.

Methodology
We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia.

Result
Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient.

Conclusion
Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.
A WALK WITH GOODSTEIN
Authors: FERNÁNDEZ-DUQUE DAVID , WEIERMANN ANDREAS 
Published: January 2024

AbstractGoodstein’s principle is arguably the first purely number-theoretic statement known to be independent of Peano arithmetic. It involves sequences of natural numbers which at first appear to diverge, but eventually decrease to zero. These sequences are defined relative to a notation system based on exponentiation for the natural numbers. In this article, we provide a self-contained and modern analysis of Goodstein’s principle, obtaining some variations and improvements. We explore notions of optimality for notation systems and apply them to the classical Goodstein process and to a weaker variant based on multiplication rather than exponentiation. In particular, we introduce the notion of base-change maximality, and show how it leads to far-reaching extensions of Goodstein’s result. We moreover show that by varying the initial base of the Goodstein process, one readily obtains independence results for each of the fragments
$\mathsf {I}\Sigma _n$
of Peano arithmetic.
Material insecurity and religiosity: A causal analysis
Authors: Purzycki Benjamin Grant , Bendixen Theiss 
Published: January 2024

AbstractSome cultural evolutionary models predict that under stressful reductions of well-being, individuals will be more attracted and fastidiously adhere to traditional systems of norms that promote solidarity and cooperation. As religious systems can bolster human relationships with a variety of mechanisms, the material insecurity hypothesis of religion posits that individual religiosity will increase under conditions of material insecurity. The bulk of the literature up to this point has been correlational and cross-national. Here, across 14 field sites, we examine the causal role that educational attainment and food insecurity play in religiosity. We find that years of formal education and food insecurity do not consistently contribute to individual religiosity cross-culturally. We conclude with a discussion of some theoretical and methodological implications. As a general workflow for cross-cultural causal research in the quantitative social sciences, the present work is a modest but necessary first step in reliably estimating causation in the material insecurity hypothesis of religiosity.
Eliminating Thurston obstructions and controlling dynamics on curves
Authors: BONK MARIO , HLUSHCHANKA MIKHAIL , ISELI ANNINA 
Published: January 2024

AbstractEvery Thurston map
$f\colon S^2\rightarrow S^2$
on a
$2$
-sphere
$S^2$
induces a pull-back operation on Jordan curves
$\alpha \subset S^2\smallsetminus {P_f}$
, where
${P_f}$
is the postcritical set of f. Here the isotopy class
$[f^{-1}(\alpha )]$
(relative to
${P_f}$
) only depends on the isotopy class
$[\alpha ]$
. We study this operation for Thurston maps with four postcritical points. In this case, a Thurston obstruction for the map f can be seen as a fixed point of the pull-back operation. We show that if a Thurston map f with a hyperbolic orbifold and four postcritical points has a Thurston obstruction, then one can ‘blow up’ suitable arcs in the underlying
$2$
-sphere and construct a new Thurston map
$\widehat f$
for which this obstruction is eliminated. We prove that no other obstruction arises and so
$\widehat f$
is realized by a rational map. In particular, this allows for the combinatorial construction of a large class of rational Thurston maps with four postcritical points. We also study the dynamics of the pull-back operation under iteration. We exhibit a subclass of our rational Thurston maps with four postcritical points for which we can give positive answer to the global curve attractor problem.
AMS 14C DATING AND STABLE ISOTOPE ANALYSIS ON AN 8-KYR OYSTER SHELL FROM TAIPEI BASIN: SEA LEVEL AND SST CHANGES
Authors: Li Hong-Chun , Mii Horng-Sheng , Liu Tsung-Kwei , Chen Wen-Shan , Kang Su-Chen , Chou Chun-Yen , Misra Satabdi , Shen Tzu-Tsen , Zhao Meixun 
Published: January 2024

ABSTRACTSeven accelerator mass spectrometry radiocarbon (AMS 14C) dates (7260±106∼7607±95 BP averaged 7444±103 BP) on a giant oyster shell, collected from an ancient shore of the Taipei Basin, are similar to the LSC (liquid scintillation counting) 14C age (7260±46 BP) of a grass sample inside the shell. The calibrated 14C ages of the C. gigas by Marine20 are 7490±240∼7805±230 cal BP (average 7660±96 cal BP), generally agreed with the calibrated LSC 14C ages of the grass and the oyster shell. Combined with other 14C ages of shoreline samples in the Taipei Basin, it is evident that sea level rose from 8600 to 7600 cal BP and reached a stand higher than modern sea level. During this marine transgression, the sedimentation rate along the shoreline was very high because 14C dating was not able to detect age differences for 4–5 m thick sediment sequences. Sixty-nine analyses of δ18O and δ13C from the oldest part of the shell exhibit clear seasonal cycles, with a 4-year period of growth in the 5.5-cm section. According to the δ18O values, the ancient oyster grew in a warmer-than-present shoreline environment, suggesting that the current absence of the giant oyster in Taiwan is not due to warming conditions.
Group-Based Affect and the Canadian Party System
Authors: Lachance Sarah , Beauvais Edana 
Published: January 2024

AbstractIn terms of party systems, Canada's system is an outlier. In our present work, we develop Richard Johnston's account of Canada's polarized pluralism in three ways. First, we link the literature on party systems to social identity theory. Second, we make an empirical contribution by directly testing Johnston's claim that intergroup affect plays a central role in shaping the dynamics of the party system. Using Canadian Election Study data from seven elections, we offer strong empirical support for the theory of polarized pluralism. Congruent with existing research, we find that the most important feature summarizing group-based affect in Canadian politics corresponds with the ideological left/right divide, but we also find that feelings toward groups on a second, uncorrelated axis (feelings toward Quebec and minority groups) shape vote choice. Yet our results show that fault lines in the polarized pluralist structure of the Canadian party system are emerging.
Feasibility of an enhanced low-fidelity ear simulator for otomicroscopy training
Authors: Allman Megan , Owens David 
Published: January 2024

AbstractObjectiveOtoscopic skills are essential for ENT doctors. Early-stage doctors develop skills whilst treating patients, with minimal teaching, potentially increasing risk to patients. Simulation allows skill development without patient risk; however, simulation often requires subjective expert review of technique. This study compared enhanced low-fidelity simulation with performance feedback against standard simulation using a basic otoscopy skills simulator.MethodsTwo low-fidelity ear simulators were created: a basic model without feedback and an enhanced model which alarms when the aural instrument tip touches the canal wall. Participants were evaluated in a randomised crossover pilot study, using both models to assess whether objective feedback reduced tip touches.ResultsThe enhanced simulator reduced tip touches more than the control model, suggesting better and more sustained skill uptake. Participants reported that the enhanced model improved learning.ConclusionEnhanced low-fidelity models provide a low-cost opportunity to improve otoscopy skills without patient risk or the need for subjective expert feedback.
A force sensor improves trainee technique for rigid endoscopy
Authors: Bola Sumrit , Shrivastava Manu Kunaal , Brown Josh , Cherko Matthew , Emmanouil Beatrice 
Published: January 2024

AbstractObjectiveDeveloping skills in rigid endoscopy poses challenges to the surgical trainee. This study investigates whether a modified manikin can improve the technical skill of junior operators by providing direct quantitative feedback.MethodsA force-sensing pad was incorporated into the oral cavity of a life support manikin. Junior trainees and senior otolaryngologists were invited to perform rigid endoscopy and received real-time feedback from the force sensor during the procedure.ResultsThere was a significant inverse correlation between operator seniority and the weight applied to the oral cavity (p < 0.0001). All junior trainee operators applied less weight after five attempts (346 ± 90.95 g) compared to their first attempt (464 ± 85.79 g). This gave a statistically significant decrease of 118 g (standard deviation = 107.27 g, p = 0.007) when quantitative feedback was provided to learning operators.ConclusionThis low-cost, simple model allows trainees to rehearse a high-risk procedure in a safe environment and adjust their operative technique.
Comparison of side effects and patient perceptions towards Rapid Rhino and Merocel packs in epistaxis
Authors: Mettias Bassem , Karia Chiraag Thakrar , Irvine Esmee , Conboy Peter 
Published: January 2024

AbstractObjectiveNon-dissolvable nasal packs (Rapid Rhino and Merocel) are widely used in secondary healthcare centres for the control of epistaxis, with some side effects.MethodsA prospective, observational cohort study was conducted of adults who required Rapid Rhino or Merocel packing for acute epistaxis management in a large healthcare centre between March 2020 and 2021. A validated modified version of the 22-item Sino-Nasal Outcome Test was used.ResultsA total of 80 adults requiring non-dissolvable packs were recruited. Seventy per cent of patients had Rapid Rhino packs inserted. Embarrassment was greater in patients who used Rapid Rhino than Merocel. Merocel packs had a significantly higher mean pain score on removal compared to Rapid Rhino. There was no correlation between rebleed rate and type of nasal pack used.ConclusionNon-dissolvable Rapid Rhino and Merocel nasal packs have similar efficacy in controlling epistaxis. Rapid Rhino packs are more embarrassing for patients in comparison to Merocel packs, but are less painful to remove.
Learning needs of junior doctors in otolaryngology: a qualitative study
Authors: Morris Simon , Owens David , Cserzo Dorottya 
Published: January 2024

AbstractObjectivesThere is concern that junior doctors are not prepared for their post-graduate attachments in ENT. The aims of this study were to capture the learning priorities of those in the ENT first on-call role and facilitate further educational opportunities to address these needs.MethodSemi-structured interviews were undertaken to explore the learning needs of junior doctors with seven junior and two senior ENT clinicians.ResultsThe thematic analysis generated three themes: the role of the ENT Junior; the perceived, expressed and prescribed learning needs; and attitudes towards future learning. These themes explored the misalignment between undergraduate training and post-graduate expectations, the lack of competence in ENT practical skills and the need for focused ENT training prior to commencing on-call shifts.ConclusionAll interviewees identified the need for greater experience in practical interventional skills prior to their ENT attachments and expressed interest towards a standardised, bootcamp-style induction with simulated emergency experience.
Evil and embodiment: towards a Latter-day Saint non-identity theodicy
Authors: Haderlie Derek Christian , Miller Taylor-Grey Edward 
Published: January 2024

AbstractWe offer an account of the metaphysics of persons rooted in Latter-day Saint scripture that vindicates the essentiality of origins. We then give theological support for the claim that prospects for the success of God's soul making project are bound up in God creating particular persons. We observe that these persons would not have existed were it not for the occurrence of a variety of evils (of even the worst kinds), and we conclude that Latter-day saint theology has the resources to endorse a strong soul-making non-identity theodicy. We then introduce two complications for this account rooted in the problem of horrendous evils. First, horrendous evils threaten to undermine our confidence that God is good to each created person within the context of their life. And second, horrendous evils raise concerns about the value of persons whose existence depends on the occurrence of those evils. We may wonder whether those whose existence depends on the occurrence of horrendous evils are valuable enough to motivate God's allowance of those evils. We show that by attending to important structural features of a post-mortem, pre-eschatological state called the spirit world, Latter-day Saints can ameliorate these concerns about horrendous evils.
Unconventional policy instruments in the New Keynesian model
Authors: Alla Zineddine , Espinoza Raphael A. , Ghosh Atish R. 
Published: January 2024

AbstractThis paper analyzes the use of unconventional policy instruments in New Keynesian setups in which the “divine coincidence” breaks down. The paper discusses the role of a second instrument that, in addition to the effect of conventional interest rate policy, may enter the Phillips curve, the investment–saving (IS) curve, and the welfare function, thus influencing inflation and output. The paper presents theoretical results on equilibrium determinacy, the inflation bias, the stabilization bias, and the optimal central banker’s preferences when both instruments are available. We show that the use of an unconventional instrument reduces the zone of equilibrium indeterminacy and may reduce the volatility of the economy. However, in some circumstances, committing to not use the second instrument may be welfare-improving (a result akin to Rogoff (Journal of International Economics 18(3-4), 199–217, 1985) example of counterproductive coordination). We also show that the optimal central banker should be both aggressive against inflation and interventionist in using the unconventional policy instrument, and we analyze the optimal central banker’s preferences when social preferences would yield equilibrium indeterminacy.
Double positivity for rheumatoid factor and anti-CCP autoantibodies: improving referral from primary care of patients suspected of having rheumatoid arthritis
Authors: Salinas Maria , Blasco Álvaro , Flores Emilio , Minguez Mauricio , Leiva-Salinas Carlos 
Published: January 2024

Abstract

Background:
Rheumatoid arthritis (RA) is a chronic progressive autoimmune inflammatory disease with significant morbidity and mortality. The course of the disease can be modified if diagnosis is early and treatment appropriate.

Aim:
In this study, we aimed to evaluate a new strategy for early identification of RA patients in primary care settings (the ‘diagnostic bottleneck’) based on serological biomarkers and to manage inappropriate rheumatoid factor (RF) laboratory test requests.

Method:
A two-arm study was carried out. The first arm corresponded to a retrospective observational descriptive study of patients referred for RF testing from primary care using the current laboratory workflow. The second arm included the following prospective interventions: cancelation of RF requests corresponding to patients with previous negative results for RF over a one-year period; and automatic reflex testing antibodies against cyclic citrullinated proteins (anti-CCP) for patients displaying RF values >30 IU/ml. Outcomes from both arms were then compared.

Findings:
As double positivity for RF and anti-CCP notably increases the positive likelihood ratio of RA. The intervention enabled a reduction of 2813 tests in 22 months. Moreover, the frequency of unnecessary referrals was reduced from 22% to 8.2%, while that of missed patients decreased slightly (from 21% to 16%), with the number of patients diagnosed per RF request remaining unchanged. In terms of costs, we saved 19.4 RF tests per anti-CCP test added.
We developed a simple and cost-effective strategy for reducing the time to diagnosis of RA that can improve patients’ quality of life. This approach was supported by primary and specialised care.
Uncertainties of Annual Suspended Sediment Transport Estimates Driven by Temporal Variability
Authors: Slabon Aron , Hoffmann Thomas 
Published: January 2024

AbstractThe majority of sediment transported from rivers to the global oceans is moved in suspension as fine particles. Thereby, the transported sediment shapes the physical environment regarding erosive and accumulative processes. Temporal variations in sediment supply and transport lead to unquantified uncertainties in annual load estimates, requiring high‐resolution data sets and a sound understanding of site‐specific catchment characteristics. We investigate the temporal variability of suspended sediment transport in four catchments in Germany with highly different discharge regimes and catchment sizes (<1,000 km2 to >100,000 km2). The data set consists of high‐resolution 15‐min turbidity measurements with daily discharge and frequent manual sampling. Utilizing a bootstrap approach based on the 15‐min time series, we assessed the impact of the sampling interval on annual load estimates for less frequent data sets. We use the sediment load exceedance time (Ts80%) as a measure of variability and relate it to uncertainties in annual load estimates. Since low‐frequency data sets rely on sediment rating curves, we performed a sensitivity analysis of the rating parameters a, b, and ε. Our results indicate a negative exponential relationship between Ts80% and uncertainties in annual load estimates. Based on the Ts80%, we can derive the shortest sampling frequency necessary to obtain annual load estimates with an error of <20% over varying discharge regimes. Additionally, Ts80% is linked to rating exponent b, with low b‐values indicating high Ts80%‐values and lower variability, and high b‐values indicating higher variability.
Impact of Anthropogenic Warming on Future Unprecedented Droughts in California: Insights From Multiple Indices and Multi‐Model Projections
Authors: Zhou Zixuan , Kim Yong‐Tak , Im Eun‐Soon , Kwon Hyun‐Han 
Published: January 2024

AbstractSo‐called hot droughts are seen as one of the very foreseeable extremes amid the faster‐than‐expected pace of global warming. In particular, the western part of North America has been pummeled by severe droughts due to a lack of precipitation as well as record‐breaking hot temperatures. This study assesses the joint return period of drought severity and duration using the COordinated Regional Climate Downscaling EXperiment‐COmmon Regional Experiment (CORDEX‐CORE) simulations over the California domain. Six dynamically downscaled simulations with 25 km resolution are analyzed for the historical (1956–2005) and future (2050–2099) periods, whose warming sensitivities differ based on three global climate models (GCMs) driving two regional climate models (RCMs). Our focus is on estimating the joint probabilities of the drought duration and severity constructed from multiple drought indices such as the Palmer Drought Severity Index (PDSI) (with original temperature (PDSI) and its detrended counterpart (PDSI_detrended)) and Standardized Precipitation Index (SPI). Under the RCP8.5 scenario, an unprecedented level of droughts in terms of both duration and severity is likely to emerge only when the drought is characterized by PDSI. A comparison of PDSI and PDSI_detrended explicitly reveals that the occurrence of severe and prolonged droughts is mainly attributed to the warming trend of temperature. Both PDSI_detrended and SPI, which do not incorporate the warming effect explicitly, barely differentiate the joint distributions from the historical and future simulations. Unlike the PDSI based on water budget, the SPI, based on solely accumulated precipitation, shows a loosely coupled joint structure between the severity and duration of droughts, with marked differences in their marginal distributions.
On the Effects of Turbulence Modulation Driven by Suspended Sediment Stratification in Emergent Rigid Canopies
Authors: Ranjan Pallav , Tinoco Rafael O. 
Published: January 2024

AbstractAquatic vegetation has the potential to increase suspended sediment capture while also increasing sediment resuspension and bedload transport. Suspended sediment can induce density stratification, which modulates the turbulence in the water column. We derive a Rouse‐based formulation for suspended sediment concentration (SSC) including the effect of sediment‐induced density stratification. We perform Large Eddy Simulations of vegetated and non‐vegetated channels to explicitly highlight the effect of stratification on SSC profiles. We found that the impact of stratification is dominant in the near‐bed region within the bottom boundary layer, affecting both sediment resuspension and bedload transport. Stratification reduces the likelihood of both dominant sweep and ejection events in the near the bed region which may affect sediment entrainment and bedload transport. Modifications to existing models of sediment entrainment and bedload transport are suggested to account for the effects of sediment induced stratification in vegetated and non‐vegetated channels.