bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Authors: AbdelAleem Alice , Haddad Naim , Al-Ettribi Ghada , Crunk Amy , Elsotouhy Ahmed 
Published: February 2023

Abstract
Cohen syndrome (CS) is a rare multisystem autosomal recessive disorder associated with mutations in VPS13B (vacuolar protein sorting homolog 13B). The NAPB-related neurodevelopmental disorder is characterized mainly by early-onset epileptic encephalopathy (EOEE) and is associated with mutations in NAPB that encodes for SNAP-beta (soluble NSF attachment protein beta). Here we describe male triplets, clinically presenting with the phenotype of subtle but distinctive facial features, intellectual disability, increased body weight, neonatal EOEE, and prominently variable abnormal behaviors of autism and sexual arousal. The EEG showed multifocal epilepsy, while the brain MRI showed no abnormalities. Diagnostic exome sequencing (ES), the applied next-generation sequencing approach, revealed the interesting finding of two novel homozygous variants in two genes: VPS13B missense variant (c.8516G > A) and NAPB splice-site loss (c.354 + 2 T > G). Sanger sequencing verified the segregation of the two recessive gene variants with the phenotype in family members. The prediction algorithms support the pathogenicity of these variants. Homozygosity mapping of ES data of this consanguineous family revealed multiple chromosomal regions of homozygosity stretches with the residing of VPS13B (chr8: 100830758G > A) and NAPB (Chr20: 23,375,774 A > C) variants within the largest homozygous blocks further supporting the disease-genes causal role. Interestingly, the functions of the two proteins; VPS13B, a transmembrane protein involved in intracellular protein transport, and SNAP-beta involved in neurotransmitters release at the neuronal synaptic complexes, have been associated with Golgi-mediated vesicular trafficking. Our ES findings provide new insights into the pathologic mechanism underlying the expansion of the neurodevelopmental spectrum in CS and further highlight the importance of Golgi and Golgi-membrane-related proteins in the development of neurodevelopmental syndromes associated with early-onset non-channelopathy epilepsy. To our knowledge, this is the first report documenting multifocal EOEE in CS patients with the association of a pathogenic NAPB variant.
Evaluating the capacity of paired comparison methods to aggregate rankings of separate groups
Authors: Orbán-Mihálykó Éva , Mihálykó Csaba , Gyarmati László 
Published: February 2023

AbstractRanking and rating methods have outstanding significance in sports, mainly due to their capacity to predict results. In this paper we turn to their capacity to aggregate separate groups’ rankings based on a small piece of information. We investigate under which conditions two or more separate groups can be trustworthily interwoven applying Thurstone motivated methods and an AHP based method. A theorem is proved which guarantees adequate unified ranking based on some links between the groups. We also analyse the robustness of the results.
Clinical relevance of PD-1 positive CD8 T-cells in gastric cancer
Authors: Choo Joan , Kua Ley Fang , Soe Mu Yar , Asuncion Bernadette Reyna , Tan Benjamin Kye Jyn , Teo Chong Boon , Tay Ryan Yong Kiat , So Jimmy , Shabbir Asim , Guowei Kim , Tan Hon Lyn , Chan Gloria , Ma Haoran , Ramachandran Gokula Krishnan , Lum Jeffrey H. Y. , Chee Cheng Ean , Sridharan Sriram , Tan Patrick , Sundar Raghav , Yong Wei Peng 
Published: February 2023

Abstract
Background
We evaluated the relevance of PD-1+CD8+ T-cells in gastric cancer (GC) including prognostic significance, association with chemotherapy and immunotherapy sensitivity and correlations with the tumor microenvironment (TME).

Methods
Discovery cohort: GC samples were evaluated for AE1/3, CD8, PD-1, Ki-67 and Granzyme-B expression with fluorescence-based multiplex immunohistochemistry (mIHC). Validation cohorts: we analyzed bulk RNAseq GC datasets from TCGA, the “3G” chemotherapy trial and an immunotherapy phase 2 trial. The cox proportional hazards model was used to identify factors that influenced overall survival (OS). To study the TME, we analyzed single-cell RNAseq performed on GCs.

Results
In the discovery cohort of 350 GCs, increased PD-1 expression of CD8 T-cells was prognostic for OS (HR 0.822, p = 0.042). PD-1 expression in CD8 T-cells highly correlated with cytolytic [Granzyme-B+] (r = 0.714, p < 0.001) and proliferative [Ki-67+] (r = 0.798, p < 0.001) activity. Analysis of bulk RNAseq datasets showed tumors with high PD-1 and CD8A expression levels had improved OS when treated with immunotherapy (HR 0.117, p = 0.036) and chemotherapy (HR 0.475, p = 0.017). Analysis of an scRNAseq dataset of 152,423 cells from 40 GCs revealed that T-cell and NK-cell proportions were higher (24% vs 18% and 19% vs 15%, p < 0.0001), while macrophage proportions were lower (7% vs 11%, p < 0.0001) in CD8PD-1high compared to CD8PD-1low tumors.

Conclusion
This is one of the largest GC cohorts of mIHC combined with analysis of multiple datasets providing orthogonal validation of the clinical relevance of PD-1+CD8+ T-cells being associated with improved OS. CD8PD-1high tumors have distinct features of an immunologically active, T-cell inflamed TME.
Radial nerve compression: anatomical perspective and clinical consequences
Authors: Węgiel Andrzej , Karauda Piotr , Zielinska Nicol , Tubbs R. Shane , Olewnik Łukasz 
Published: February 2023

AbstractThe radial nerve is the biggest branch of the posterior cord of the brachial plexus and one of its five terminal branches. Entrapment of the radial nerve at the elbow is the third most common compressive neuropathy of the upper limb after carpal tunnel and cubital tunnel syndromes. Because the incidence is relatively low and many agents can compress it along its whole course, entrapment of the radial nerve or its branches can pose a considerable clinical challenge. Several of these agents are related to normal or variant anatomy. The most common of the compressive neuropathies related to the radial nerve is the posterior interosseus nerve syndrome. Appropriate treatment requires familiarity with the anatomical traits influencing the presenting symptoms and the related prognoses. The aim of this study is to describe the compressive neuropathies of the radial nerve, emphasizing the anatomical perspective and highlighting the traps awaiting physicians evaluating these entrapments.
Integrity monitoring scheme for undifferenced and uncombined multi-frequency multi-constellation PPP-RTK
Authors: Zhang Wenhao , Wang Jinling , El-Mowafy Ahmed , Rizos Chris 
Published: February 2023

AbstractThe precise point positioning (PPP)-based real-time-kinematic (RTK) method attracts increasing attention from both academia and industry because of its potential for high accuracy positioning with a shorter convergence time compared to the traditional PPP. Besides high accuracy, integrity monitoring (IM) is indispensable for safety–critical real-time land vehicle and aviation applications. As the traditional advanced receiver autonomous integrity monitoring (ARAIM) method is designed for (smoothed) pseudorange-based positioning, the complexity of multi-frequency multi-constellation PPP-RTK using carrier phase measurements has not been given sufficient consideration. This study proposes an IM scheme for multi-frequency multi-constellation uncombined PPP-RTK applying the ARAIM theory, with a new comprehensive threat model to accommodate not only pseudorange measurements, but also carrier phase measurements, and other fault events arising from the network corrections that support PPP-RTK. Characteristics of different types of faults are analyzed with the aid of numerical experiments. In addition, the impact of ambiguity-fixed solutions on PPP-RTK integrity performance is investigated. The authors have also conducted case studies, including static and real-kinematic positioning experiments. Experiments have demonstrated that fast convergence in accuracy and the position error bounds, or protection levels, with a given integrity risk, in horizontal position components of PPP-RTK could be achieved. For the open sky environments on a highway, the protection levels estimated by PPP-RTK solutions have the potential to meet the alert limit requirement for road transportation using ambiguity-fixed PPP-RTK positioning under the assumption that the risks of wrong ambiguity fixing are very small and can be ignored.
Land use and land cover as a conditioning factor in landslide susceptibility: a literature review
Authors: Pacheco Quevedo Renata , Velastegui-Montoya Andrés , Montalván-Burbano Néstor , Morante-Carballo Fernando , Korup Oliver , Daleles Rennó Camilo 
Published: February 2023

AbstractLandslide occurrence has become increasingly influenced by human activities. Accordingly, changing land use and land cover (LULC) is an important conditioning factor in landslide susceptibility models. We present a bibliometric analysis and review of how LULC was explored in the context of landslide susceptibility in 536 scientific articles from 2001 to 2020. The pattern of publications and citations reveals that most articles hardly focus on the relationship between LULC and landslides despite a growing interest in this topic. Most research outputs came from Asian countries (some of which are frequently affected by landslides), and mostly with prominent international collaboration. We recognised three major research themes regarding the characteristics of LULC data, different simulated scenarios of LULC changes, and the role of future scenarios for both LULC and landslide susceptibility. The most frequently studied LULC classes included roads, soils (in the broadest sense), and forests, often to approximate the negative impacts of expanding infrastructure, deforestation, or major land use changes involving agricultural practice. We highlight several articles concerned primarily with current practice and future scenarios of changing land use in the context of landslides. The relevance of LULC in landslide susceptibility analysis is growing slowly, though with much potential to be explored for future LULC scenario analysis and to close gaps in many study areas.
Fluid Mechanical Effects of Fetal Aortic Valvuloplasty for Cases of Critical Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome
Authors: Wong Hong Shen , Li Binghuan , Tulzer Andreas , Tulzer Gerald , Yap Choon Hwai 
Published: February 2023

AbstractFetuses with critical aortic stenosis (FAS) are at high risk of progression to HLHS by the time of birth (and are thus termed “evolving HLHS”). An in-utero catheter-based intervention, fetal aortic valvuloplasty (FAV), has shown promise as an intervention strategy to circumvent the progression, but its impact on the heart’s biomechanics is not well understood. We performed patient-specific computational fluid dynamic (CFD) simulations based on 4D fetal echocardiography to assess the changes in the fluid mechanical environment in the FAS left ventricle (LV) directly before and 2 days after FAV. Echocardiograms of five FAS cases with technically successful FAV were retrospectively analysed.
FAS compromised LV stroke volume and ejection fraction, but FAV rescued it significantly. Calculations to match simulations to clinical measurements showed that FAV approximately doubled aortic valve orifice area, but it remained much smaller than in healthy hearts. Diseased LVs had mildly stenotic mitral valves, which generated fast and narrow diastolic mitral inflow jet and vortex rings that remained unresolved directly after FAV. FAV further caused aortic valve damage and high-velocity regurgitation. The high-velocity aortic regurgitation jet and vortex ring caused a chaotic flow field upon impinging the apex, which drastically exacerbated the already high energy losses and poor flow energy efficiency of FAS LVs. Two days after the procedure, FAV did not alter wall shear stress (WSS) spatial patterns of diseased LV but elevated WSS magnitudes, and the poor blood turnover in pre-FAV LVs did not significantly improve directly after FAV. FAV improved FAS LV’s flow function, but it also led to highly chaotic flow patterns and excessively high energy losses due to the introduction of aortic regurgitation directly after the intervention. Further studies analysing the effects several weeks after FAV are needed to understand the effects of such biomechanics on morphological development.
Elodea mediates juvenile salmon growth by altering physical structure in freshwater habitats
Authors: Carey Michael P. , Reeves Gordon H. , Sethi Suresh A. , Tanner Theresa L. , Young Daniel B. , Bartz Krista K. , Zimmerman Christian E. 
Published: February 2023

AbstractInvasive species introductions in high latitudes are accelerating and elevating the need to address questions of their effects on Subarctic and Arctic ecosystems. As a driver of ecosystem function, submerged aquatic vegetation is one of the most deleterious biological invasions to aquatic food webs. The aquatic plant Elodea spp. has potential to be a widespread invader to Arctic and Subarctic ecosystems and is already established in 19 waterbodies in Alaska, USA. Elodea spp. has been found to alter ecosystem processes through multiple pathways; yet little is known about the impact of Elodea spp. on fish life history. A primary concern is the effect of Elodea spp. on juvenile Pacific salmon (Oncorhynchus spp.), because this invading plant can form dense stands in littoral zones, potentially impacting important freshwater rearing habitats used by juvenile fish for foraging and refuge from predators. We used a field experiment to test the effect of Elodea spp. on juvenile coho salmon (O. kisutch) growth in an infested lake near Cordova, Alaska, USA. We found that Elodea spp. stands result in reduced growth and a lower trophic position for juvenile coho salmon over the summer compared to habitats dominated by a native assemblage of aquatic plants. While infested sites were not associated with significant changes in water condition or primary productivity compared to sites dominated by native vegetation, zooplankton densities were reduced, and Elodea spp. height and vegetation richness increased macroinvertebrate densities. Combined, these results indicate that Elodea spp. may alter the flow of energy to juvenile salmon by restructuring space and affecting prey resources for rearing fish. Furthermore, these results suggest that widespread establishment of Elodea spp. may alter the quality of habitat for juvenile salmon and, by affecting juvenile fish growth, could lead to population-level impacts on salmon returns.
Valorized soybean hulls as TEMPO-oxidized cellulose nanofibril and polyethylenimine composite hydrogels and their potential removal of water pollutants
Authors: Nan Yufei , Gomez-Maldonado Diego , Iglesias Maria C. , Whitehead Daniel C. , Peresin Maria S. 
Published: February 2023

AbstractCellulose nanomaterial (CNM) and polyethylenimine (PEI) composites have attracted growing attention due to their multifunctional characteristics, which have been applied in different fields. In this work, soybean hulls were valorized into carboxyl cellulose nanofibrils (COOH-CNFs), and composited into hydrogels with PEI by combining them with cationic chelating and physical adsorption strategies. Cellulose nanofibrils (CNFs) were produced from soybean hulls prior to oxidation by a TEMPO mediated reaction to obtain COOH–CNFs; then drops of zinc chloride were added to 1.5% aqueous COOH–CNF dispersions, which were left for 24 h to form COOH-CNF hydrogels. Finally, the hydrogels were functionalized using different concentration of PEI solutions over a range of pH values. Elemental analysis results showed that 20% aq. PEI at pH 11.6 is the optimum condition to synthesize the COOH–CNF/PEI hydrogels. Additionally, the adsorption efficiency for the removal of anionic methyl blue dyes and Cu(II) ions from water was tested, reaching 82.6% and 69.8%, respectively, after 24 h. These results demonstrate the great potential of COOH–CNF/PEI hydrogels as adsorbent materials for water remediation.
Graphical abstract
Beyond Positive Affect: Discrete Positive Emotions Differentiate Major Depression from Social Anxiety Disorder
Authors: Chin Angela A. , Sweet Alison M. , Taylor Charles T. 
Published: February 2023

AbstractBackgroundSocial anxiety disorder (SAD) and major depressive disorder (MDD) are both associated with diminished global positive affect. However, little is known about which specific positive emotions are affected, and which positive emotions differentiate MDD from SAD.MethodsFour groups of adults recruited from the community were examined (N = 272): control group (no psychiatric history;n = 76), SAD without MDD group (n = 76), MDD without SAD group (n = 46), and comorbid group (diagnoses of both SAD and MDD;n = 74). Discrete positive emotions were measured with the Modified Differential Emotions Scale, which asked about the frequency of 10 different positive emotions experienced during the past week.ResultsThe control group had higher scores on all positive emotions compared to all three clinical groups. The SAD group had higher scores on awe, inspiration, interest, and joy compared to the MDD group, and higher scores on those emotions, as well as amusement, hope, love, pride, and contentment, than the comorbid group. MDD and comorbid groups did not differ on any positive emotions. Gratitude did not differ significantly between clinical groups.ConclusionAdopting a discrete positive emotion approach revealed shared and distinct features across SAD, MDD, and their comorbidity. We consider possible mechanisms underlying transdiagnostic vs. disorder-specific emotion deficits.
Steam thermotherapy strongly reduces Botrytis in strawberry transplants with no or minor negative effects on plant growth and yield
Authors: Gahatraj Bijaya , Nielsen Katherine A. G. , Le Vinh Hong , Sønsteby Anita , Stensvand Arne 
Published: February 2023

AbstractThe effect of steam thermotherapy on Botrytis spp. populations in strawberry transplants was evaluated. Tray plants rooted in 0.2 L peat plugs of seasonal flowering cvs. Falco, Sonsation, and Soprano, and everbearing cvs. Favori and Murano were pre-treated with steam at 37 °C for 1 h, followed by 1 h at ambient temperature and air humidity, and then 2 or 4 h steam treatment at 44 °C. Except for one cultivar with a slight reduction in yield, there were no negative effects on plant performance. Compared to untreated transplants, mean incidence of Botrytis on the five cultivars was reduced by 43 and 86% with the 2 and 4 h treatments, respectively. Within cultivars the reduction was significant in 2 and 3 experiments following the 2 and 4 h treatments, respectively. Sclerotia from four different isolates of Botrytis were subjected to treatment including 4 h of steam thermotherapy and subsequently tested for viability. Following 14 days of incubation, 90 to 100% (mean 97%) of treated sclerotia failed to produce mycelial growth compared with untreated sclerotia, which all germinated and produced mycelia. Botrytis isolates recovered from both treated and untreated strawberry transplants were tested for resistance to seven fungicides, including boscalid, fenhexamid, fludioxonil, fluopyram, pyraclostrobin, pyrimethanil and thiophanate-methyl. Multiple fungicide resistance was common; 35.5% of isolates were resistant to fungicides from at least three FRAC groups. Results indicate that steam thermotherapy treatment strongly reduces populations of Botrytis spp., including fungicide-resistant strains, in strawberry transplants with negligible negative impacts on the transplants.
A non-iterative parameter identification procedure for the non-local Gurson–Tvergaard–Needleman model based on standardized experiments
Authors: El Khatib Omar , Hütter Geralf , Pham Rinh-Dinh , Seupel Andreas , Kuna Meinhard , Kiefer Bjoern 
Published: February 2023

AbstractDamage mechanics models exhibit favorable properties such as the intrinsic influence of stress triaxiality on damage evolution and the prediction of crack initiation as well as propagation leading to structural failure. However, their application requires advanced expertise hindering the transfer of these models into industrial practice, especially since the parameter calibration is a key obstacle. In this paper, a simplified procedure is proposed for a non-local extension of the Gurson–Tvergaard–Needleman model (GTN), which is a highly accepted model for ductile failure of metals. The procedure is iteration free and requires experimental input data from only two standardized tests. The parameters are determined using look-up diagrams created on the basis of systematic simulations and made available for different material behavior covering the majority of ductile metals. Benchmark tests for three different steels are conducted to evaluate the robustness of the proposed procedure. The reliability of the GTN model is validated for all investigated materials.
Climbing the Career Ladder Does Not Make You Happy: Well-being Changes in the Years Before and After Becoming a Leader
Authors: Asselmann Eva , Specht Jule 
Published: February 2023

AbstractSubjective well-being tends to be higher in leaders vs. non-leaders. However, do these differences come from selection effects (e.g., because higher subjective well-being predisposes for occupational success) or from within-person well-being changes before and after becoming a leader? This question remains largely unresolved. Previous research suggests that becoming a leader might be a double-edged sword and affect subjective well-being positively but also negatively (e.g., due to more power but also more stress). Using data from the German Socio-Economic Panel Study (N = 25,674), we examined (a) well-being differences between employees who did vs. did not start a leadership position and (b) well-being changes before and after becoming a leader. Compared to non-leaders, leaders were more satisfied with their lives, happier, and less sad in the years before and after starting a leadership position. Leaders became slightly more satisfied with their lives in the five years before and five years after becoming a leader. Happiness, sadness, and anxiety did not change, but anger increased after starting a leadership position. These findings support the idea that differences in subjective well-being between leaders and non-leaders largely stem from selection effects, while starting a leadership position might even lower specific well-being facets.