bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Authors: García-Castaño Alejandro , Gómez-Conde Sara , Gondra Leire , Herrero María , Aguirre Mireia , de la Hoz Ana-Belén , Castaño Luis ,   Renaltube group, Santos Fernando , Gil-Peña Helena , Coto Eliecer , Loredo Vanessa , Ordóñez Flor Ángel , Rodríguez Julián , Braga Eva , Hernández Olaya , Fuente Rocío , Claramunt Débora , García-Nieto Víctor Manuel , Claverie-Martín Félix , Ramos-Trujillo Elena , Luis-Yanes Maria Isabel , Córdoba-Lanús Elizabeth , Perdomo-Ramirez Ana , Mura-Escorche Gloria , Castaño Luis , Madariaga Leire , Pérez de Nanclares Gustavo , García-Castaño Alejandro , Aguirre Mireia , Gondra Leire , Herrero María , Aguayo Aníbal , García-Pérez Nélida , Ariceta Gema , Meseguer Anna , Cantero Gerard , Cantos-Pastor Virginia , Pérez-González Elena , Bello-Gutiérrez Pablo , Madariaga Leire 
Published: August 2023

AbstractBartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe the different molecular findings in patients with a clinical diagnosis of classic BS. We included 27 patients (26 families) with no identified pathogenic variants in CLCNKB. We used a customized Ion AmpliSeq Next-Generation Sequencing panel including 44 genes related to renal tubulopathies. We detected pathogenic or likely pathogenic variants in 12 patients (44%), reaching a conclusive genetic diagnosis. Variants in SLC12A3 were found in 6 (Gitelman syndrome). Median age at diagnosis was 14.6 years (range 0.1–31), with no history of prematurity or polyhydramnios. Serum magnesium level was low in 2 patients (33%) but urinary calcium excretion was normal or low in all, with no nephrocalcinosis. Variants in SLC12A1 were found in 3 (BS type 1); and in KCNJ1 in 1 (BS type 2). These patients had a history of polyhydramnios in 3 (75%), and the mean gestational age was 34.2 weeks (SD 1.7). The median age at diagnosis was 1.8 years (range 0.1–6). Chronic kidney disease and nephrocalcinosis were present in 1 (25%) and 3 (75%) patients, respectively. A variant in CLCN5 was found in one patient (Dent disease), and in NR3C2 in another patient (Geller syndrome). Genetic diagnosis of BS is heterogeneous as different tubulopathies can present with a similar clinical picture. The use of gene panels in these diseases becomes more efficient than the study gene by gene with Sanger sequencing.
Convergent synthesis of phosphorodiamidate morpholino oligonucleotides (PMOs) by the H-phosphonate approach
Authors: Tsurusaki Taiki , Sato Kazuki , Imai Hiroki , Hirai Kunihiro , Takahashi Daisuke , Wada Takeshi 
Published: August 2023

AbstractPhosphorodiamidate morpholino oligonucleotides (PMOs) are a promising type of antisense oligonucleotides, but their challenging synthesis makes them difficult to access. This research presents an efficient synthetic approach for PMOs using the H-phosphonate approach. The use of phosphonium-type condensing reagents significantly reduced coupling times compared with the current synthetic approach. Furthermore, phosphonium-type condensing reagents facilitated the fragment condensation of PMO, synthesizing up to 8-mer containing all four nucleobases with remarkable coupling efficacy. This is the first report on the convergent synthesis of PMOs. This approach would facilitate the large-scale synthesis of PMOs and accelerate their popularity and accessibility as a next-generation therapy.
Identification of potentially relevant metals for the etiology of autism by using a Bayesian multivariate approach for partially censored values
Authors: Wegmann Bertil , Tatemoto Patricia , Miemczyk Stefan , Ludvigsson Johnny , Guerrero-Bosagna Carlos 
Published: August 2023

AbstractHeavy metals are known to be able to cross the placental and blood brain barriers to affect critical neurodevelopmental processes in the fetus. We measured metal levels (Al, Cd, Hg, Li, Pb and Zn) in the cord blood of newborns and in the serum of the same children at 5 years of age, and compared between individuals with or without (controls) autism spectrum disorder (ASD) diagnosis. The samples were from a biobank associated with the All Babies in Southeast Sweden (ABIS) registry. We proposed a Bayesian multivariate log-normal model for partially censored values to identify potentially relevant metals for the etiology of ASD. Our results in cord blood suggest prenatal Al levels could be indicative of later ASD incidence, which could also be related to an increased possibility of a high, potentially toxic, exposure to Al and Li during pregnancy. In addition, a larger possibility of a high, potentially beneficial, exposure to Zn could occur during pregnancy in controls. Finally, we found decisive evidence for an average increase of Hg in 5-year-old ASD children compared to only weak evidence for controls. This is concordant with previous research showing an impaired ability for eliminating Hg in the ASD group.
Developing a predictive model for an emerging epidemic on cassava in sub-Saharan Africa
Authors: Godding David , Stutt Richard O. J. H. , Alicai Titus , Abidrabo Phillip , Okao-Okuja Geoffrey , Gilligan Christopher A. 
Published: August 2023

AbstractThe agricultural productivity of smallholder farmers in sub-Saharan Africa (SSA) is severely constrained by pests and pathogens, impacting economic stability and food security. An epidemic of cassava brown streak disease, causing significant yield loss, is spreading rapidly from Uganda into surrounding countries. Based on sparse surveillance data, the epidemic front is reported to be as far west as central DRC, the world’s highest per capita consumer, and as far south as Zambia. Future spread threatens production in West Africa including Nigeria, the world’s largest producer of cassava. Using innovative methods we develop, parameterise and validate a landscape-scale, stochastic epidemic model capturing the spread of the disease throughout Uganda. The model incorporates real-world management interventions and can be readily extended to make predictions for all 32 major cassava producing countries of SSA, with relevant data, and lays the foundations for a tool capable of informing policy decisions at a national and regional scale.
Subject-specific whole-brain parcellations of nodes and boundaries are modulated differently under 10 Hz rTMS
Authors: Belov Vladimir , Kozyrev Vladislav , Singh Aditya , Sacchet Matthew D. , Goya-Maldonado Roberto 
Published: August 2023

AbstractRepetitive transcranial magnetic stimulation (rTMS) has gained considerable importance in the treatment of neuropsychiatric disorders, including major depression. However, it is not yet understood how rTMS alters brain’s functional connectivity. Here we report changes in functional connectivity captured by resting state functional magnetic resonance imaging (rsfMRI) within the first hour after 10 Hz rTMS. We apply subject-specific parcellation schemes to detect changes (1) in network nodes, where the strongest functional connectivity of regions is observed, and (2) in network boundaries, where functional transitions between regions occur. We use support vector machine (SVM), a widely used machine learning algorithm that is robust and effective, for the classification and characterization of time intervals of changes in node and boundary maps. Our results reveal that changes in connectivity at the boundaries are slower and more complex than in those observed in the nodes, but of similar magnitude according to accuracy confidence intervals. These results were strongest in the posterior cingulate cortex and precuneus. As network boundaries are indeed under-investigated in comparison to nodes in connectomics research, our results highlight their contribution to functional adjustments to rTMS.
The crosstalking immune cells network creates a collective function beyond the function of each cellular constituent during the progression of hepatocellular carcinoma
Authors: Koelsch Nicholas , Mirshahi Faridoddin , Aqbi Hussein F. , Saneshaw Mulugeta , Idowu Michael O. , Olex Amy L. , Sanyal Arun J. , Manjili Masoud H. 
Published: August 2023

AbstractAbundance of data on the role of inflammatory immune responses in the progression or inhibition of hepatocellular carcinoma (HCC) has failed to offer a curative immunotherapy for HCC. This is largely because of focusing on detailed specific cell types and missing the collective function of the hepatic immune system. To discover the collective immune function, we take systems immunology approach by performing high-throughput analysis of snRNAseq data collected from the liver of DIAMOND mice during the progression of nonalcoholic fatty liver disease (NAFLD) to HCC. We report that mutual signaling interactions of the hepatic immune cells in a dominant-subdominant manner, as well as their interaction with structural cells shape the immunological pattern manifesting a collective function beyond the function of the cellular constituents. Such pattern discovery approach recognized direct role of the innate immune cells in the progression of NASH and HCC. These data suggest that discovery of the immune pattern not only detects the immunological mechanism of HCC in spite of dynamic changes in immune cells during the course of disease but also offers immune modulatory interventions for the treatment of NAFLD and HCC.
Simulation of laser-induced tunnel ionization based on a curved waveguide
Authors: Ben Levy Arnon , Hen Amir , Kahn Merav , Aharon Yoad , Levin Tamar , Mazurski Noa , Levy Uriel , Marcus Gilad 
Published: August 2023

AbstractThe problem of tunneling ionization and the associated questions of how long it takes for an electron to tunnel through the barrier, and what the tunneling rate has fascinated scientists for almost a century. In strong field physics, tunnel ionization plays an important role, and accurate knowledge of the time-dependent tunnel rate is of paramount importance. The Keldysh theory and other more advanced related theories are often used, but their accuracy is still controversial. In previous work, we suggested using a curved waveguide as a quantum simulator to simulate the tunnel ionization process. Here we implemented for the first time such a curved waveguide and observed the simulated tunneling ionization process. We compare our results with the theory.
P2Y12 inhibitor monotherapy after complex percutaneous coronary intervention: a systematic review and meta-analysis of randomized clinical trials
Authors: Sotomi Yohei , Matsuoka Yuki , Hikoso Shungo , Nakatani Daisaku , Okada Katsuki , Dohi Tomoharu , Kida Hirota , Oeun Bolrathanak , Sunaga Akihiro , Sato Taiki , Kitamura Tetsuhisa , Sakata Yasushi 
Published: August 2023

AbstractIt remains unknown whether the recent trend of short dual antiplatelet therapy (DAPT) followed by P2Y12 inhibitor monotherapy can simply be applied to patients undergoing complex percutaneous coronary intervention (PCI). We performed a systematic review and meta-analysis to evaluate P2Y12 inhibitor monotherapy vs. conventional DAPT in patients undergoing complex PCI and non-complex PCI (PROSPERO: CRD42022335723). Primary endpoint was the 1-year Net Adverse Clinical Event (NACE). Among 5,323 screened studies, six randomized trials fulfilled the eligibility criteria. A total of 10,588 complex PCI patients (5,269 vs. 5,319 patients) and 25,618 non-complex PCI patients (12,820 vs 12,798 patients) were randomly assigned to P2Y12 inhibitor monotherapy vs. conventional DAPT. In complex PCI patients, P2Y12 inhibitor monotherapy was associated with a lower risk of NACE than conventional DAPT [Odds ratio (OR) 0.76, 95% confidence interval (CI) 0.63–0.91, P = 0.003], whereas in non-complex PCI patients, P2Y12 inhibitor monotherapy was associated with a trend toward lowering the risk of NACE (OR 0.86, 95% CI 0.72–1.02, P = 0.09). This meta-analysis across randomized trials demonstrated that a strategy of short DAPT followed by P2Y12 inhibitor monotherapy reduces the risk of 1-year NACE in patients undergoing complex PCI.
Unveiling the need of interactions for social N400s and supporting the N400 inhibition hypothesis
Authors: Sinha Sujata , Del Goleto Sarah , Kostova Milena , Debruille J. Bruno 
Published: August 2023

AbstractWhen participants (Pps) are presented with stimuli in the presence of another person, they may consider that person’s perspective. Indeed, five recent ERP studies show that the amplitudes of their N400s are increased. The two most recent ones reveal that these social-N400 increases occur even when instructions do not require a focus on the other's perspective. These increases also happen when Pps know that this other person has the same stimulus information as they have. However, in all these works, Pps could see the other person. Here, we tested whether the interaction occurring with this sight is important or whether these social N400 increases also occur when the other person is seated a bit behind Pps, who are aware of it. All had to decide whether the word ending short stories was coherent, incoherent, or equivocal. No social N400 increase was observed: N400s elicited by those words in Pps who were with a confederate (n = 50) were similar to those of Pps who were alone (n = 51). On the other hand, equivocal endings did not elicit larger N400s than coherent ones but triggered larger late posterior positivities (LPPs), like in previous studies. The discussion focuses on the circumstances in which perspective-taking occurs and on the functional significance of the N400 and the LPP.
Role of dopamine D1 receptor in the modulation of memory consolidation by passive and self-administered heroin and associated conditioned stimuli
Authors: Francis Travis , Leri Francesco 
Published: August 2023

AbstractIt has been proposed that opiates modulate memory consolidation, but recent work has indicated that this effect may be mediated by how the drug is experienced (i.e., passive injections vs. self-administration). Because the dopamine (DA) D1 receptor is involved in processing of learning signals and attribution of salience to events experienced by an organism, two studies in male Sprague-Dawley rats tested the effect of blocking this receptor on modulation of memory consolidation by passive and self-administered heroin, in addition to conditioned memory modulation by heroin-paired cues. Using the object location memory task, Study 1 employed SCH23390 (0, 0.05, 0.10 mg/kg, SC) to modulate enhancement of memory consolidation induced by post-training injections of heroin (1 mg/kg, SC) as well as by exposure to the environment paired with heroin injections (6 pairings, 1 h each, 1 mg/kg). Study 2 was conducted in rats that could self-administer heroin (0.05 mg/kg/infusion, IV) and tested whether SCH23390 (0 and 0.1 mg/kg, SC) could prevent memory modulation induced by a change in schedule of self-administration (from fixed to variable ratio). It was found that while repeated passive injections of heroin retained their enhancing effect on memory, when self-administered, heroin enhanced consolidation of object location memory only at the beginning of self-administration and after a change in schedule. Importantly, SCH23390 blocked memory modulation by heroin when passively administered and when the drug was self-administered on a novel schedule. SCH23390 also blocked conditioned memory modulation induced by post-training exposure to heroin-paired cues. Taken together, these results suggest that modulation of memory consolidation by unconditioned and conditioned opiate reinforcers involve a D1-dependent mechanism of salience attribution linked to the anticipation of drug effects.
On the reaction–diffusion type modelling of the self-propelled object motion
Authors: Nagayama Masaharu , Monobe Harunori , Sakakibara Koya , Nakamura Ken-Ichi , Kobayashi Yasuaki , Kitahata Hiroyuki 
Published: August 2023

AbstractIn this study, we propose a mathematical model of self-propelled objects based on the Allen–Cahn type phase-field equation. We combine it with the equation for the concentration of surfactant used in previous studies to construct a model that can handle self-propelled object motion with shape change. A distinctive feature of our mathematical model is that it can represent both deformable self-propelled objects, such as droplets, and solid objects, such as camphor disks, by controlling a single parameter. Furthermore, we demonstrate that, by taking the singular limit, this phase-field based model can be reduced to a free boundary model, which is equivalent to the $$L^2$$

L
2

-gradient flow model of self-propelled objects derived by the variational principle from the interfacial energy, which gives a physical interpretation to the phase-field model.
The association between psychosocial factors, protective factors, and its associated triggers with psychological distress among Bolivian adolescents
Authors: Suanrueang Passakorn , Peltzer Karl , Lkhamsuren Zuchi , Yap Lyen Krenz 
Published: August 2023

AbstractThe purpose of this study is to investigate the association between psychosocial factors, protective factors, and its associated triggers with psychological distress among Bolivian adolescents. This cross-sectional study was conducted by investigating the 2018 Bolivia global school-based student health survey (GSHS). The total number of students who participated in this survey was 7931, and the final sample was 7377. The mean age of the participants was 15.3 years (SD = 1.4). Psychological distress was assessed with a 2-item screener (loneliness and worry induced sleep disturbance). In all 22.3% of participants reported experiencing psychological distress, with 18.1% among adolescent males and 26.2% among adolescent females. In adjusted logistic regression analysis (AOR, 95% CI), there are two significant directions of association. One is the negative association, such as parental involvement as a protective factor. School adolescents who had more parental involvement were less likely to experience psychological distress. Parents understand problems or worries (0.64, 0.54–0.75, p < .001) and parents disregard privacy (0.69, 0.58–0.82, p < .001). On the other hand, many psycho-social factors are significantly positively associated with psychological distress. School adolescents who experience more psychosocial factors are more likely to experience psychological distress. Physical assault in the previous year (1.83, 1.59–2.11, p < .001), being bullied at school (1.27, 1.07–1.52, p < .01), being bullied outside of school (1.36, 1.15–1.61, p < .001), and being cyberbullied (1.60, 1.37–1.88, p < .001), were all significantly associated with psychological distress. Healthy relationships in a family, and interventions to reduce violence and bullying, should be encouraged and promoted.
A porcine model of postoperative hemi-diaphragmatic paresis to evaluate a unilateral diaphragmatic pacemaker
Authors: Kratz Tobias , Ruff Roman , Bernhardt Marit , Katzer David , Herberg Ulrike , Asfour Boulos , Breuer Johannes , Oetzmann von Sochaczewski Christina , Bierbach Benjamin 
Published: August 2023

AbstractUnilateral phrenic nerve damage is a dreaded complication in congenital heart surgery. It has deleterious effects in neonates and children with uni-ventricular circulation. Diaphragmatic palsy, caused by phrenic nerve damage, impairs respiratory function, especially in new-borns, because their respiration depends on diaphragmatic contractions. Furthermore, Fontan patients with passive pulmonary perfusion are seriously affected by phrenic nerve injury, because diaphragmatic contraction augments pulmonary blood flow. Diaphragmatic plication is currently employed to ameliorate the negative effects of diaphragmatic palsy on pulmonary perfusion and respiratory mechanics. This procedure attenuates pulmonary compression by the abdominal contents. However, there is no contraction of the plicated diaphragm and consequently no contribution to the pulmonary blood flow. Hence, we developed a porcine model of unilateral diaphragmatic palsy in order to evaluate a diaphragmatic pacemaker. Our illustrated step-by-step description of the model generation enables others to replicate and use our model for future studies. Thereby, it might contribute to investigation and advancement of potential improvements for these patients.
Impacts of the COVID-19 economic slowdown on soybean crop yields in the United States
Authors: Christopoulos Julianna , Tong Daniel , Campbell Patrick C. , Ma Siqi 
Published: August 2023

AbstractIt is without question that the COVID-19 pandemic has taken its toll on the U.S. economy. Stay-at-home orders led to reduced vehicular traffic and widespread declines in anthropogenic emissions (e.g., nitrogen oxides (NOx)). This study is the first to explore the potential consequences of O3 changes resulting from the economic shutdown in the United States on soybean crop yields for 2020. The pandemic’s impact on surface O3 is quantified using the NOAA’s National Air Quality Forecasting Capability (NAQFC), which is based on the Community Multi-Scale Air Quality (CMAQ) model for May–July 2020. The “would-be”, 2020 level business-as-usual (BAU) emissions are compared to a simulation that uses representative COVID-19 (C19) emissions. For each emissions scenario, crop exposures are calculated using the AOT40 cumulative exposure index and then combined with county-level soybean production totals to determine regional yield losses. Exposure changes ranged between – 2 and 2 ppmVhr−1. It was further shown that increased exposures (0.5 to 1.10 ppmVhr−1) in the Southeast U.S. counteracted decreased exposures (0.8 to 0.5 ppmVhr−1) in the other soybean-producing regions. As a result, corresponding yield improvements counteracted yield losses around the Mississippi River Valley and allowed for minimal improvements in soybean production loss totaling $6.5 million over CONUS.
Increased dietary intake of ultraprocessed foods and mitochondrial metabolism alterations in pediatric obesity
Authors: Coppola Serena , Paparo Lorella , Trinchese Giovanna , Rivieri Andrea Margarita , Masino Antonio , De Giovanni Di Santa Severina Anna Fiorenza , Cerulo Mariapina , Escolino Maria , Turco Assunta , Esposito Ciro , Mollica Maria Pina , Berni Canani Roberto 
Published: August 2023

AbstractThe increased intake of ultraprocessed foods (UPFs) in the pediatric age paralleled with the risen prevalence of childhood obesity. The Ultraprocessed Foods in Obesity (UFO) Project aimed at investigating the potential mechanisms for the effects of UPFs in facilitating pediatric obesity, focusing on the direct role of advanced glycation end-products (AGEs) on mitochondrial function, the key regulator of obesity pathophysiology. We comparatively investigated the daily dietary intake of UPFs, energy, nutrients, dietary AGEs [Nε -(carboxymethyl)lysine (CML), Nε -(1-carboxyethyl)lysine (CEL), and Nδ -(5-hydro-5- methyl-4-imidazolon-2-yl)-ornithine (MG-H1)] in 53 obese patients and in 100 healthy controls visiting the Tertiary Center for Pediatric Nutrition of the Department of Translational Medical Science at the University of Naples “Federico II”. AGEs skin accumulation and mitochondrial function in peripheral blood mononuclear cells (PBMCs) were also assessed. A higher intake of UPFs and AGEs, energy, protein, fat, and saturated fatty acids was observed in obese patients. Obese children presented significantly higher skin AGEs accumulation and alterations in mitochondrial metabolism. PBMCs from healthy controls exposed to AGEs showed the same mitochondrial alterations observed in patients. These findings support the UPFs role in pediatric obesity, and the need for dietary strategies limiting UPFs exposure for obesity prevention and treatment.