bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reflection Coefficient for Two‐Dimensional Propagation of Fast Magnetosonic Waves Emerging One‐Dimensional Mesoscale Density Boundaries
Authors: Yu Xiongdong , Yuan Zhigang , Yao Fei , Ouyang Zhihai 
Published: May 2024

AbstractIn recent studies, two‐dimensional propagation model of fast magnetosonic (MS) waves has been proposed to interpret the satellite observations of MS waves knocking into a density boundary. Although the theoretical model is able to capture the main properties of the two‐dimensional propagation of MS waves, quantitative description about the MS wave behaviors has not been given yet. Here, with the assumption of a parabolic function for the potential function near its minimum, we solve the wave equation only with a potential function to obtain the reflection coefficients. It is found that the wave equation with a potential function can describe the full reflection and full transmission of MS waves rather well. Furthermore, the first‐order derivative term in the wave equation is utilized to modify the reflection coefficient when the minimum of the potential function is near zero. Our result is helpful for further understanding the two‐dimensional propagation of MS waves.
Placental abruption and risk for intraventricular hemorrhage in very low birth weight infants: the United States national inpatient database
Authors: Farghaly Mohsen A. A. , Aziz Hany F. , Puthuraya Subhash , Abdalla Alshimaa , Aly Hany , Mohamed Mohamed A. 
Published: May 2024

Abstract
Objective
To examine the association of placental abruption with intraventricular hemorrhage (IVH) in very low birth weight (VLBW) infants.

Methods
We examined the National Inpatient Sample (NIS) datasets. Preterm infants <1500 g birth weight (BW) were included. The odds ratios (OR) of developing IVH and severe IVH in association with placental abruption were calculated. Adjusted OR (aOR) were calculated using logistic regression models.

Results
The study included 113,445 VLBW infants. IVH occurred in 18.7% in the infants who were born to mothers with history of placental abruption versus 14.7% in infants without placental abruption, aOR 1.25 (95%CI: 1.13–1.38), p < 0.001. Severe IVH occurred in 6.4% in infants born to mothers with history of placental abruption versus 4.0% in those without placental abruption, aOR 1.53 (95%CI: 1.30–1.78), p < 0.001.

Conclusion
Placental abruption is associated with increased prevalence of IVH and severe IVH in VLBW infants.
The genetic landscape of substance use disorders
Authors: Gerring Zachary F. , Thorp Jackson G. , Treur Jorien L. , Verweij Karin J. H. , Derks Eske M. 
Published: May 2024

AbstractSubstance use disorders represent a significant public health concern with considerable socioeconomic implications worldwide. Twin and family-based studies have long established a heritable component underlying these disorders. In recent years, genome-wide association studies of large, broadly phenotyped samples have identified regions of the genome that harbour genetic risk variants associated with substance use disorders. These regions have enabled the discovery of putative causal genes and improved our understanding of genetic relationships among substance use disorders and other traits. Furthermore, the integration of these data with clinical information has yielded promising insights into how individuals respond to medications, allowing for the development of personalized treatment approaches based on an individual’s genetic profile. This review article provides an overview of recent advances in the genetics of substance use disorders and demonstrates how genetic data may be used to reduce the burden of disease and improve public health outcomes.
Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease
Authors: Le Grand Quentin , Tsuchida Ami , Koch Alexandra , Imtiaz Mohammed-Aslam , Aziz N. Ahmad , Vigneron Chloé , Zago Laure , Lathrop Mark , Dubrac Alexandre , Couffinhal Thierry , Crivello Fabrice , Matthews Paul M. , Mishra Aniket , Breteler Monique M. B. , Tzourio Christophe , Debette Stéphanie 
Published: May 2024

AbstractCerebral small vessel disease (cSVD) is a leading cause of stroke and dementia. Genetic risk loci for white matter hyperintensities (WMH), the most common MRI-marker of cSVD in older age, were recently shown to be significantly associated with white matter (WM) microstructure on diffusion tensor imaging (signal-based) in young adults. To provide new insights into these early changes in WM microstructure and their relation with cSVD, we sought to explore the genetic underpinnings of cutting-edge tissue-based diffusion imaging markers across the adult lifespan. We conducted a genome-wide association study of neurite orientation dispersion and density imaging (NODDI) markers in young adults (i-Share study: N = 1 758, (mean[range]) 22.1[18–35] years), with follow-up in young middle-aged (Rhineland Study: N = 714, 35.2[30–40] years) and late middle-aged to older individuals (UK Biobank: N = 33 224, 64.3[45–82] years). We identified 21 loci associated with NODDI markers across brain regions in young adults. The most robust association, replicated in both follow-up cohorts, was with Neurite Density Index (NDI) at chr5q14.3, a known WMH locus in VCAN. Two additional loci were replicated in UK Biobank, at chr17q21.2 with NDI, and chr19q13.12 with Orientation Dispersion Index (ODI). Transcriptome-wide association studies showed associations of STAT3 expression in arterial and adipose tissue (chr17q21.2) with NDI, and of several genes at chr19q13.12 with ODI. Genetic susceptibility to larger WMH volume, but not to vascular risk factors, was significantly associated with decreased NDI in young adults, especially in regions known to harbor WMH in older age. Individually, seven of 25 known WMH risk loci were associated with NDI in young adults. In conclusion, we identified multiple novel genetic risk loci associated with NODDI markers, particularly NDI, in early adulthood. These point to possible early-life mechanisms underlying cSVD and to processes involving remyelination, neurodevelopment and neurodegeneration, with a potential for novel approaches to prevention.
Molecular insights of exercise therapy in disease prevention and treatment
Authors: Walzik David , Wences Chirino Tiffany Y. , Zimmer Philipp , Joisten Niklas 
Published: May 2024

AbstractDespite substantial evidence emphasizing the pleiotropic benefits of exercise for the prevention and treatment of various diseases, the underlying biological mechanisms have not been fully elucidated. Several exercise benefits have been attributed to signaling molecules that are released in response to exercise by different tissues such as skeletal muscle, cardiac muscle, adipose, and liver tissue. These signaling molecules, which are collectively termed exerkines, form a heterogenous group of bioactive substances, mediating inter-organ crosstalk as well as structural and functional tissue adaption. Numerous scientific endeavors have focused on identifying and characterizing new biological mediators with such properties. Additionally, some investigations have focused on the molecular targets of exerkines and the cellular signaling cascades that trigger adaption processes. A detailed understanding of the tissue-specific downstream effects of exerkines is crucial to harness the health-related benefits mediated by exercise and improve targeted exercise programs in health and disease. Herein, we review the current in vivo evidence on exerkine-induced signal transduction across multiple target tissues and highlight the preventive and therapeutic value of exerkine signaling in various diseases. By emphasizing different aspects of exerkine research, we provide a comprehensive overview of (i) the molecular underpinnings of exerkine secretion, (ii) the receptor-dependent and receptor-independent signaling cascades mediating tissue adaption, and (iii) the clinical implications of these mechanisms in disease prevention and treatment.
Omega-3 fatty acids and major depression: a Mendelian randomization study
Authors: Carnegie R. , Borges M. C. , Jones H. J. , Zheng J. , Haycock P. , Evans J. , Martin R. M. 
Published: May 2024

AbstractOmega-3 fatty acids have been implicated in the aetiology of depressive disorders, though trials supplementing omega-3 to prevent major depressive disorder (MDD) have so far been unsuccessful. Whether this association is causal remains unclear. We used two sample Mendelian randomization (MR) to investigate causality. Genetic variants associated with circulating omega-3 and omega-6 fatty acids in UK Biobank (UKBB, n = 115,078) were selected as exposures. The Psychiatric Genomics Consortium (PGC) genome-wide association studies (GWAS) of MDD (n = 430,775; cases = 116,209; controls = 314,566) and recurrent depression (rMDD, n = 80,933; cases = 17,451; controls = 62,482), were used as outcomes. Multivariable MR (MVMR) models were used to account for biologically correlated lipids, such as high- and low-density cholesterol and triglycerides, and to explore the relative importance of longer-chain omega-3 fatty acids eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) using data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE, n = 8866). Genetic colocalization analyses were used to explore the presence of a shared underlying causal variant between traits. Genetically predicted total omega-3 fatty acids reduced the odds of MDD (ORIVW 0.96 per standard deviation (SD, i.e. 0.22 mmol/l) (95% CIs 0.93–0.98, p = 0.003)). The largest point estimates were observed for eicosapentaenoic acid (EPA), a long-chain omega-3 fatty acid (OREPA 0.92; 95% CI 0.88–0.96; p = 0.0002). The effect of omega-3 fatty acids was robust to MVMR models accounting for biologically correlated lipids. ‘Leave-one-out’ analyses highlighted the FADS gene cluster as a key driver of the effect. Colocalization analyses suggested a shared causal variant using the primary outcome sample, but genomic confounding could not be fully excluded. This study supports a role for omega-3 fatty acids, particularly EPA, in the aetiology of depression, although pleiotropic mechanisms cannot be ruled out. The findings support guidelines highlighting the importance of EPA dose and ratio for MDD and question whether targeted interventions may be superior to universal prevention trials, as modest effect sizes will limit statistical power.
ATP6AP2, a regulator of LRP6/β-catenin protein trafficking, promotes Wnt/β-catenin signaling and bone formation in a cell type dependent manner
Authors: Xiong Lei , Guo Hao-Han , Pan Jin-Xiu , Ren Xiao , Lee Daehoon , Chen Li , Mei Lin , Xiong Wen-Cheng 
Published: May 2024

AbstractWnt/β-catenin signaling is critical for various cellular processes in multiple cell types, including osteoblast (OB) differentiation and function. Exactly how Wnt/β-catenin signaling is regulated in OBs remain elusive. ATP6AP2, an accessory subunit of V-ATPase, plays important roles in multiple cell types/organs and multiple signaling pathways. However, little is known whether and how ATP6AP2 in OBs regulates Wnt/β-catenin signaling and bone formation. Here we provide evidence for ATP6AP2 in the OB-lineage cells to promote OB-mediated bone formation and bone homeostasis selectively in the trabecular bone regions. Conditionally knocking out (CKO) ATP6AP2 in the OB-lineage cells (Atp6ap2Ocn-Cre) reduced trabecular, but not cortical, bone formation and bone mass. Proteomic and cellular biochemical studies revealed that LRP6 and N-cadherin were reduced in ATP6AP2-KO BMSCs and OBs, but not osteocytes. Additional in vitro and in vivo studies revealed impaired β-catenin signaling in ATP6AP2-KO BMSCs and OBs, but not osteocytes, under both basal and Wnt stimulated conditions, although LRP5 was decreased in ATP6AP2-KO osteocytes, but not BMSCs. Further cell biological studies uncovered that osteoblastic ATP6AP2 is not required for Wnt3a suppression of β-catenin phosphorylation, but necessary for LRP6/β-catenin and N-cadherin/β-catenin protein complex distribution at the cell membrane, thus preventing their degradation. Expression of active β-catenin diminished the OB differentiation deficit in ATP6AP2-KO BMSCs. Taken together, these results support the view for ATP6AP2 as a critical regulator of both LRP6 and N-cadherin protein trafficking and stability, and thus regulating β-catenin levels, demonstrating an un-recognized function of osteoblastic ATP6AP2 in promoting Wnt/LRP6/β-catenin signaling and trabecular bone formation.
Has children’s oral health-related quality of life improved more following necrotic primary molars pulpectomy or extraction?
Authors: Bakar Majidi , Duane Brett 
Published: May 2024

Abstract
Study design
A randomised parallel controlled clinical trial was conducted between 2013 and 2015 at the University of Sao Paulo, Brazil, to assess the impact of pulpectomy or extraction on the oral health-related quality of life (OHRQoL) of children with pulp necrosis in primary molars.

Study selection
Children between the ages of 3 and 5 who were in good health but had extensive caries in at least one primary molar with signs of pulpal necrosis (also as seen radiographically, caries reaching the pulp with no signs of internal or external resorption) were considered for inclusion. Additionally, teeth with sufficient structure for rubber dam placement were also included. Children with any systemic, neurological, or other conditions that negatively impacted their growth were excluded.

Clinical procedures and success criteria
After computer-generated randomisation, 100 children were assigned randomly into two groups: 50 in the pulpectomy group and 50 in the dental extraction group. A paediatric dentist performed all procedures under local anaesthesia without sedation or general anaesthesia, and a rubber dam was used for pulpectomy with composite restoration in a single session. The OHRQoL scores were evaluated at baseline, 4, 8, and 12 months using the Brazilian version of the Early Childhood Oral Health Impact Scale (B-ECOHIS) via face-to-face interviews with parents conducted by a researcher trained in a single-blinded fashion. Additionally, the child’s self-reported dental anxiety was measured using the Facial Image Scale (FIS), and dental pain was assessed using the Wong-Baker Faces Pain Scale (WBFPS) immediately after the treatment as secondary outcomes.

Results
The mean difference (SD) in the total B-ECOHIS score between baseline and after 12 months was 12.66 (6.79) for the pulpectomy group and 10.94 (9.28) for the extraction group, with effect sizes of 3.2 (95% CI: 2.42–4.20) and 1.4 (95% CI: 0.84–2.11), respectively. While both treatments significantly improved the children’s OHRQoL after 12 months, the pulpectomy group showed greater long-term improvement compared to the extraction group, with mean differences (SD) of 4.86 (6.13) and effect sizes of 0.8 (0.46–1.13; p < 0.001). Moreover, children in the extraction group showed higher levels of anxiety compared with those in the pulpectomy group at 12-month follow-up (OR = 2.52; 95% CI = 1.30–4.89), and they reported 93% more odds of ‘dental pain with high level’ immediately after treatment than those in the pulpectomy group (OR = 1.93; 95% CI = 0.83–4.49).

Conclusion
Children treated with pulpectomy in their necrotic primary molars were found to have better OHRQoL than those who had their primary molars extracted.
G protein-specific mechanisms in the serotonin 5-HT2A receptor regulate psychosis-related effects and memory deficits
Authors: Kossatz Elk , Diez-Alarcia Rebeca , Gaitonde Supriya A. , Ramon-Duaso Carla , Stepniewski Tomasz Maciej , Aranda-Garcia David , Muneta-Arrate Itziar , Tepaz Elodie , Saen-Oon Suwipa , Soliva Robert , Shahraki Aida , Moreira David , Brea Jose , Loza Maria Isabel , de la Torre Rafael , Kolb Peter , Bouvier Michel , Meana J. Javier , Robledo Patricia , Selent Jana 
Published: May 2024

AbstractG protein-coupled receptors (GPCRs) are sophisticated signaling machines able to simultaneously elicit multiple intracellular signaling pathways upon activation. Complete (in)activation of all pathways can be counterproductive for specific therapeutic applications. This is the case for the serotonin 2 A receptor (5-HT2AR), a prominent target for the treatment of schizophrenia. In this study, we elucidate the complex 5-HT2AR coupling signature in response to different signaling probes, and its physiological consequences by combining computational modeling, in vitro and in vivo experiments with human postmortem brain studies. We show how chemical modification of the endogenous agonist serotonin dramatically impacts the G protein coupling profile of the 5-HT2AR and the associated behavioral responses. Importantly, among these responses, we demonstrate that memory deficits are regulated by Gαq protein activation, whereas psychosis-related behavior is modulated through Gαi1 stimulation. These findings emphasize the complexity of GPCR pharmacology and physiology and open the path to designing improved therapeutics for the treatment of stchizophrenia.
Momentum-dependent scaling exponents of nodal self-energies measured in strange metal cuprates and modelled using semi-holography
Authors: Smit S. , Mauri E. , Bawden L. , Heringa F. , Gerritsen F. , van Heumen E. , Huang Y. K. , Kondo T. , Takeuchi T. , Hussey N. E. , Allan M. , Kim T. K. , Cacho C. , Krikun A. , Schalm K. , Stoof H.T.C. , Golden M. S. 
Published: May 2024

AbstractThe anomalous strange metal phase found in high-Tc cuprates does not follow the conventional condensed-matter principles enshrined in the Fermi liquid and presents a great challenge for theory. Highly precise experimental determination of the electronic self-energy can provide a test bed for theoretical models of strange metals, and angle-resolved photoemission can provide this as a function of frequency, momentum, temperature and doping. Here we show that constant energy cuts through the nodal spectral function in (Pb,Bi)2Sr2−xLaxCuO6+δ have a non-Lorentzian lineshape, consistent with a self-energy that is k dependent. This provides a new test for aspiring theories. Here we show that the experimental data are captured remarkably well by a power law with a k-dependent scaling exponent smoothly evolving with doping, a description that emerges naturally from anti-de Sitter/conformal-field-theory based semi-holography. This puts a spotlight on holographic methods for the quantitative modelling of strongly interacting quantum materials like the cuprate strange metals.
A polygenic score method boosted by non-additive models
Authors: Ohta Rikifumi , Tanigawa Yosuke , Suzuki Yuta , Kellis Manolis , Morishita Shinichi 
Published: May 2024

AbstractDominance heritability in complex traits has received increasing recognition. However, most polygenic score (PGS) approaches do not incorporate non-additive effects. Here, we present GenoBoost, a flexible PGS modeling framework capable of considering both additive and non-additive effects, specifically focusing on genetic dominance. Building on statistical boosting theory, we derive provably optimal GenoBoost scores and provide its efficient implementation for analyzing large-scale cohorts. We benchmark it against seven commonly used PGS methods and demonstrate its competitive predictive performance. GenoBoost is ranked the best for four traits and second-best for three traits among twelve tested disease outcomes in UK Biobank. We reveal that GenoBoost improves prediction for autoimmune diseases by incorporating non-additive effects localized in the MHC locus and, more broadly, works best in less polygenic traits. We further demonstrate that GenoBoost can infer the mode of genetic inheritance without requiring prior knowledge. For example, GenoBoost finds non-zero genetic dominance effects for 602 of 900 selected genetic variants, resulting in 2.5% improvements in predicting psoriasis cases. Lastly, we show that GenoBoost can prioritize genetic loci with genetic dominance not previously reported in the GWAS catalog. Our results highlight the increased accuracy and biological insights from incorporating non-additive effects in PGS models.
Binding of Akkermansia muciniphila to mucin is O-glycan specific
Authors: Elzinga Janneke , Narimatsu Yoshiki , de Haan Noortje , Clausen Henrik , de Vos Willem M. , Tytgat Hanne L. P. 
Published: May 2024

AbstractThe intestinal anaerobic bacterium Akkermansia muciniphila is specialized in the degradation of mucins, which are heavily O-glycosylated proteins that constitute the major components of the mucus lining the intestine. Despite that adhesion to mucins is considered critical for the persistence of A. muciniphila in the human intestinal tract, our knowledge of how this intestinal symbiont recognizes and binds to mucins is still limited. Here, we first show that the mucin-binding properties of A. muciniphila are independent of environmental oxygen concentrations and not abolished by pasteurization. We then dissected the mucin-binding properties of pasteurized A. muciniphila by use of a recently developed cell-based mucin array that enables display of the tandem repeats of human mucins with distinct O-glycan patterns and structures. We found that A. muciniphila recognizes the unsialylated LacNAc (Galβ1-4GlcNAcβ1-R) disaccharide selectively on core2 and core3 O-glycans. This disaccharide epitope is abundantly found on human colonic mucins capped by sialic acids, and we demonstrated that endogenous A. muciniphila neuraminidase activity can uncover the epitope and promote binding. In summary, our study provides insights into the mucin-binding properties important for colonization of a key mucin-foraging bacterium.
Stochasticity, determinism, and contingency shape genome evolution of endosymbiotic bacteria
Authors: Boyd Bret M. , James Ian , Johnson Kevin P. , Weiss Robert B. , Bush Sarah E. , Clayton Dale H. , Dale Colin 
Published: May 2024

AbstractEvolution results from the interaction of stochastic and deterministic processes that create a web of historical contingency, shaping gene content and organismal function. To understand the scope of this interaction, we examine the relative contributions of stochasticity, determinism, and contingency in shaping gene inactivation in 34 lineages of endosymbiotic bacteria, Sodalis, found in parasitic lice, Columbicola, that are independently undergoing genome degeneration. Here we show that the process of genome degeneration in this system is largely deterministic: genes involved in amino acid biosynthesis are lost while those involved in providing B-vitamins to the host are retained. In contrast, many genes encoding redundant functions, including components of the respiratory chain and DNA repair pathways, are subject to stochastic loss, yielding historical contingencies that constrain subsequent losses. Thus, while selection results in functional convergence between symbiont lineages, stochastic mutations initiate distinct evolutionary trajectories, generating diverse gene inventories that lack the functional redundancy typically found in free-living relatives.