bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth
Authors: Bolli Amber , Nriagu Bede , Britt Allison D. , Toole Anjali D. , Treat James , Srinivasan Abhay , Sheppard Sarah E. 
Published: January 2023

AbstractCapillary malformations are slow‐flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 to confirm this association. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.
Distinct patterns of neurodegeneration after TBI and in Alzheimer's disease
Authors: Graham Neil S.N. , Cole James H. , Bourke Niall J. , Schott Jonathan M. , Sharp David J. 
Published: January 2023

AbstractIntroductionTraumatic brain injury (TBI) is a dementia risk factor, with Alzheimer's disease (AD) more common following injury. Patterns of neurodegeneration produced by TBI can be compared to AD and aging using volumetric MRI.MethodsA total of 55 patients after moderate to severe TBI (median age 40), 45 with AD (median age 69), and 61 healthy volunteers underwent magnetic resonance imaging over 2 years. Atrophy patterns were compared.ResultsAD patients had markedly lower baseline volumes. TBI was associated with increased white matter (WM) atrophy, particularly involving corticospinal tracts and callosum, whereas AD rates were increased across white and gray matter (GM). Subcortical WM loss was shared in AD/TBI, but deep WM atrophy was TBI‐specific and cortical atrophy AD‐specific. Post‐TBI atrophy patterns were distinct from aging, which resembled AD.DiscussionPost‐traumatic neurodegeneration 1.9–4.0 years (median) following moderate‐severe TBI is distinct from aging/AD, predominantly involving central WM. This likely reflects distributions of axonal injury, a neurodegeneration trigger.Highlights
We compared patterns of brain atrophy longitudinally after moderate to severe TBI in late‐onset AD and healthy aging.
Patients after TBI had abnormal brain atrophy involving the corpus callosum and other WM tracts, including corticospinal tracts, in a pattern that was specific and distinct from AD and aging.
This pattern is reminiscent of axonal injury following TBI, and atrophy rates were predicted by the extent of axonal injury on diffusion tensor imaging, supporting a relationship between early axonal damage and chronic neurodegeneration.
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Authors: Billingsley Kimberley J. , Ding Jinhui , Jerez Pilar Alvarez , Illarionova Anastasia , Levine Kristin , Grenn Francis P. , Makarious Mary B. , Moore Anni , Vitale Daniel , Reed Xylena , Hernandez Dena , Torkamani Ali , Ryten Mina , Hardy John ,   UK Brain Expression Consortium (UKBEC), Chia Ruth , Scholz Sonja W. , Traynor Bryan J. , Dalgard Clifton L. , Ehrlich Debra J. , Tanaka Toshiko , Ferrucci Luigi , Beach Thomas G. , Serrano Geidy E. , Quinn John P. , Bubb Vivien J. , Collins Ryan L , Zhao Xuefang , Walker Mark , Pierce‐Hoffman Emma , Brand Harrison , Talkowski Michael E. , Casey Bradford , Cookson Mark R , Markham Androo , Nalls Mike A. , Mahmoud Medhat , Sedlazeck Fritz J , Blauwendraat Cornelis , Gibbs J. Raphael , Singleton Andrew B. 
Published: January 2023

ObjectiveIdentification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal variants for most PD risk are not known. Here we focused on structural variants (SVs), which represent a major source of genetic variation in the human genome. We aimed to discover SVs associated with PD risk by performing the first large‐scale characterization of SVs in PD.MethodsWe leveraged a recently developed computational pipeline to detect and genotype SVs from 7,772 Illumina short‐read whole genome sequencing samples. Using this set of SV variants, we performed a genome‐wide association study using 2,585 cases and 2,779 controls and identified SVs associated with PD risk. Furthermore, to validate the presence of these variants, we generated a subset of matched whole‐genome long‐read sequencing data.ResultsWe genotyped and tested 3,154 common SVs, representing over 412 million nucleotides of previously uncatalogued genetic variation. Using long‐read sequencing data, we validated the presence of three novel deletion SVs that are associated with risk of PD from our initial association analysis, including a 2 kb intronic deletion within the gene LRRN4.InterpretationWe identified three SVs associated with genetic risk of PD. This study represents the most comprehensive assessment of the contribution of SVs to the genetic risk of PD to date. ANN NEUROL 2023;93:1012–1022
Ultrasonication‐Induced Strong Metal‐Support Interaction Construction in Water Towards Enhanced Catalysis
Authors: Siniard Kevin M. , Li Meijia , Yang Shi‐Ze , Zhang Junyan , Polo‐Garzon Felipe , Wu Zili , Yang Zhenzhen , Dai Sheng 
Published: January 2023

AbstractThe development of facile methodologies to afford robust supported metal nanocatalysts under mild conditions is highly desirable yet challenging, particularly via strong metal‐support interactions (SMSI) construction. State‐of‐the‐art approaches capable of generating SMSI encapsulation mainly focus on high temperature annealing in reductive/oxidative atmosphere. Herein, ultra‐stable metal nanocatalysts based on SMSI construction were produced by leveraging the instantaneous high‐energy input from ultrasonication under ambient conditions in H2O, which could rapidly afford abundant active intermediates, Ti3+ ions, and oxygen vacancies within the scaffolds to induce the SMSI overlayer formation. The encapsulation degree could be tuned and controlled via the reducibility of the solvents and the ultrasonication parameters. This facile and efficient approach could be further extended to diverse metal oxide supports and noble metal NPs leading to enhanced performance in hydrogenation reactions and CO2 conversion.
Deciphering Siloxane Bond Exchanges: From a Molecular Study to Vitrimerization and Recycling of Silicone Elastomers
Authors: Khedaioui Douriya Z. , Tribout Camille , Bratasanu Julie , D'Agosto Franck , Boisson Christophe , Montarnal Damien 
Published: January 2023

AbstractThe activity of various additives promoting siloxane equilibration reactions is examined and quantified on model compounds. We found in particular that the “superbase” phosphazene derivative P4‐tBu can promote very fast exchanges (a few seconds at 90 °C) even at low concentration (<0.1 wt %). We demonstrate that permanent silicone networks can be transformed into reprocessable and recyclable dynamic networks by mere introduction of such additives. Annealing at high temperature degrades the additives and deactivates the dynamic features of the silicone networks, reverting them back into permanent networks. A simple rheological experiment and the corresponding model allow to extract the critical kinetic parameters to predict and control such deactivations.
Effect of roasting on the physico‐chemical properties, fatty acids, polyphenols and mineral contents of tobacco (Nicotiana tabacum L.) seed and oils
Authors: Özcan Mehmet Musa , Uslu Nurhan , Lemiasheuski Viktar , Kulluk Duygu Akçay , Gezgin Sait 
Published: January 2023

AbstractThe physico‐chemical properties, phytochemicals, mineral contents of tobacco (Nicotiana tabacum L.) seeds grown at Samsun province in Turkey were evaluated. The oil contents of tobacco seeds ranged from 20.6% (control) to 29.0% (microwave‐roasted). L*, a* and b* values of tobacco seeds ranged from 32.38 to 35.61; from 6.32 to 6.78; from 13.72 to 14.27, respectively. Total phenolic contents of tobacco seed extract and oils were reported between 31.02 (oven‐roasted) and 34.42 mg GAE/100 g (microwave‐roasted) to 4.60 (microwave‐roasted) and 6.45 mg GAE/100 g (oven‐roasted), respectively. Total flavonoid values of raw and roasted tobacco seed extract and oils were determined between 26.62 (oven) and 67.10 mg/100 g (control) to 21.57 (control) and 44.71 mg/100 g (microwave‐roasted), respectively. Gallic acid, 3,4‐dihydroxybenzoic acid and catechin are the predominant phenolic components of raw and roasted tobacco seed oils. The amounts of oleic and linoleic acid in raw and roasted tobacco seed oils ranged from 10.23% (oven‐roasted) to 12.48% (control) and 73.72% (control) to 76.63% (oven‐roasted), respectively. The abundant elements found in seeds were K, P, Ca, Mg, S and Fe. The mineral amounts of the roasted seeds were found higher than that of the control. The highest increase was detected in oven roasted tobacco seeds.
The importance of local process conditions on the properties of fused filament fabrication printed polypropylene components
Authors: Xu Yao , Huang Miaozi , Schlarb Alois K. 
Published: January 2023

AbstractA key characteristic of the manufacture of void free components by 3D printing using fused filament fabrication (FFF) is that this generative process always produces new welded joints between the hot strand leaving the nozzle and the previously deposited and already solidified area. These contact conditions determine the local temperature gradient and the local deformation gradients in the contact. These in turn can have a decisive effect on the morphology and mechanical behavior of the component. In this work, the influence of three different geometric contact conditions under two different machine parameter sets on the morphology and mechanical properties was investigated. The results show that ultimately a parameter simply calculated from the process settings and geometric boundary conditions, the mean contact temperature, is decisive for the properties of the component. If this value is above the melting temperature of the material, quasi‐homogeneous morphologies with decent mechanical properties can be achieved in any case. However, if the mean contact temperature is below the melting temperature, the deformation conditions during strand deposition have a significant influence on morphology and properties. The paper describes this behavior using the example of three contact geometries typically encountered in 3D printing with FFF. The discussed correlations between the morphology and the mechanical properties of the printed FFF samples lead to a better understanding of the process and ultimately to the conclusion that the path generation that is, the slicing strategy should take these facts into account in the future in order to be able to exploit the material‐intrinsic performance potential in 3D printing as well.
Transcriptional regulation of host insulin signaling pathway genes controlling larval development by Microplitis manilae parasitization
Authors: Xing Bing‐Lin , Wang Shao‐Feng , Gulinuer Ahamaijiang , Ye Gong‐Yin , Yang Lei 
Published: January 2023

AbstractIdiobiont parasitoids using other insects as hosts sabotage the host growth and development to ensure their offspring survival. Numerous studies have discovered that insect development is subtly regulated by the conserved insulin signaling pathway. However, little is known about how wasp parasitization disrupts host development controlled by the insulin signaling pathway. Here we address this study to determine the effect of wasp parasitism on host Spodoptera frugiperda development using the idiobiont parasitoid Microplitis manilae as a model. Upon M. manilae parasitization, the body weight, body length, and food consumption of host insect were dramatically reduced compared to the unparasitized S. frugiperda. We next identified the core genes involved in host insulin signaling pathway and further analyzed the domain organizations of these genes. Phylogenetic reconstruction based on the insulin receptors clustered S. frugiperda together with other noctuidae insects. In the latter study, we profiled the expression patterns of host insulin signaling pathway genes in response to M. manilae parasitization at 2, 24, and 48 h, significant decreases in mRNA levels were recorded in S. frugiperda larvae upon 24 and 48 h parasitization. These current findings substantially add to our understanding of the physiological interaction between parasitoid and host insects, thus contributing to revealing the molecular mechanism of parasitic wasps regulating host development.
An educational board game for learning orofacial spaces: An experimental study comparing collaborative and competitive approaches
Authors: Arayapisit Tawepong , Pojmonpiti Dittakul , Dansirisomboon Karn , Jitverananrangsri Kittikorn , Poosontipong Donaya , Sipiyaruk Kawin 
Published: January 2023

AbstractOdontogenic orofacial space infection is an important topic in the dental curriculum. However, dental students do encounter difficulties in identifying the patterns of odontogenic infection spreading through fascial spaces. The implementation of game concepts might allow them to actively learn this topic by engagement. This research aimed to develop a game for learning about the orofacial spaces and to evaluate its implementation whether a competitive or collaborative approach would be more effective for dental undergraduates. ‘Trace the Spread’ has been developed as a table‐top board game, consisting of a main board presenting the anatomical map of a human model and two types of cards (quest and action cards). Eight groups of four students were randomly assigned into either the collaboration or competition group. The students were given pre‐ and post‐knowledge assessments to evaluate knowledge improvement after game completion, where they were asked to rate their satisfaction toward the game using a paper‐based questionnaire. The findings demonstrated a significant increase in the knowledge assessment scores after game completion in both collaboration (p < 0.001) and competition groups (p = 0.003). The score improvement of the collaboration group was significantly higher than that of the competition group (p < 0.001). The students tended to show satisfaction with the game, in which the collaboration group rated the game more positively compared to the competitive approach. This game appeared to be effective for learning orofacial space infections, and the learning environment within the collaborative group was found to be more supportive in terms of knowledge improvement and satisfaction.
A 1D Bayesian inversion of microwave radiances using several radiative properties of solid hydrometeors
Authors: Barreyat Marylis , Chambon Philippe , Mahfouf Jean‐François , Faure Ghislain 
Published: January 2023

AbstractNumerical weather prediction centers increasingly make use of cloudy and rainy microwave radiances. Currently, the high microwave frequencies are simulated using simplified assumptions regarding the radiative properties of frozen hydrometeors. In particular, one single particle shape is often used for all precipitating frozen particles, all over the globe, and for all cloud types. In this paper, a multi‐SSP (single scattering properties) approach for 1D Bayesian inversions is examined. Two experiments were set up: (1) one with three SSPs and (2) one with the previous SSPs plus one which leads to very cold brightness temperature distributions. For that purpose, we used observations from the GPM Microwave Imager radiometer over 2 months period and forecasts from the Météo‐France convective scale AROME model. The results showed that mixtures of SSP are chosen by the inversion method for meteorological conditions with low scattering and that a single particle is chosen for those with high scattering to perform the inversions. Despite the fact that no specific weather scenes were found to be associated with a particular SSP the most efficient scattering particles can be favored for some of them.
Factors associated with polyacrylamide hydrogel outcomes in women with stress urinary incontinence
Authors: Hoe Venetia , Yao Henry H. , Gough Karla , O'Connell Helen E. 
Published: January 2023

AbstractKnowledge of factors associated with superior outcomes in women treated with urethral bulking agents for stress urinary incontinence (SUI) remains limited. The aim of this study was to examine associations between post‐treatment outcomes in women who had undergone polyacrylamide hydrogel injections for SUI, and physiological and self‐reported variables captured during pre‐treatment clinical evaluation. A cross‐sectional study was undertaken in female patients treated for SUI with polyacrylamide hydrogel injections by a single urologist between January 2012 and December 2019. Post‐treatment outcome data were gathered in July 2020 using the Patient Global Impression of Improvement (PGI‐I), Urinary Distress Inventory‐short form (UDI‐6), Incontinence Impact Questionnaire (IIQ7), and International Consultation on Incontinence Questionnaire Short Form (ICIQ SF). All other data were gathered from women's medical records including pre‐treatment patient‐reported outcomes. Associations between post‐treatment outcomes and pre‐treatment physiological and self‐reported variables were investigated using regression models. One hundred seven of the 123 eligible patients completed post‐treatment patient‐reported outcome measures. Mean age was 63.1 years (range 25–93 years), and median time between first injection and follow‐up was 51 months (inter‐quartile range 23.5–70 months). Fifty‐five (51%) women had a successful outcome based on PGI‐I scores. Women with type 3 urethral hypermobility pre‐treatment were more likely to report treatment success (PGI‐I). Poor bladder compliance pre‐treatment was associated with greater urinary distress, frequency and severity (UDI‐6 and ICIQ) post‐treatment. Older age was associated with worse urinary frequency and severity (ICIQ) post‐treatment. Associations between patient‐reported outcomes and time between first injection and follow‐up were trivial and not statistically significant. Severity of pre‐treatment incontinence impact (IIQ‐7) was associated with worse incontinence impact post‐treatment. Type 3 urethral hypermobility was associated with a successful outcome, whereas pre‐treatment incontinence impact, poor bladder compliance and older age were associated with poorer self‐reported outcomes. Long‐term efficacy appears to hold in those who responded to initial treatment.
Hochleistungsfertigteile für den Hochbau: Ein Beitrag zum disruptiven Wandel bei mineralischen Bauteilen
Authors: Olipitz Michael 
Published: January 2023

AbstractBeton (NPC) ist weltweit der am häufigsten verwendete Baustoff, der in Form von Fertigteilen zudem ein hohes Entwicklungspotenzial in Herstellung, Kreislauffähigkeit und Dauerhaftigkeit sowie auch in Bezug auf Ressourcen‐ und Energieeffizienz aufweist. Eine mögliche Weiterentwicklung, die dieses Entwicklungspotenzial subsummiert, stellen unterschiedliche Hochleistungsfertigteile aus dem Werkstoff Ultra High Performance Concrete (UHPC) sowie Vollfertigteile in hybrider Bauweise dar. Bei materialgerechter Anwendung können im direkten Vergleich von UHPC mit der Ortbetonbauweise Einsparungen von bis zu 85 % an Ressourcen (R) und bis zu 65 % an Energie (GWP = CO2e = E) erreicht werden und dies mit dem bereits vorhandenen Technologiestand. Es wäre damit bei entsprechender Anwendung dieser Hochleistungsfertigteile eine sofortige Reduzierung des Ressourcen‐ und Energieverbrauchs in unseren zukünftigen Neubauten möglich. Die hohe Dauerhaftigkeit des Werkstoffs UHPC und der Einsatz modularer Vorfertigung in der Herstellung komplettieren die Vorteile. Nur wenn wir mit den bereits vorhandenen Technologien und Innovationen bereit sind, sofort Maßnahmen zur Ressourcen‐ und Energieeffizienz umzusetzen, können wir die stringenten Vorgaben der Intergovernmental Panel of Climate Change (IPCC) zur Emissionsreduzierung auch einhalten und lediglich das branchenmäßig zur Verfügung stehende Restbudget bis hin zur Klimaneutralität aufbrauchen. Es wird mitunter auch eine wesentliche Aufgabe der Politik sein, diese Vorgaben nicht nur für die erneuerbaren Energieemissionen (PERT), sondern insbesondere auch für nicht erneuerbaren oder grauen Energieemissionen (PENRT) am Bausektor durch Reglementierungen rasch umzusetzen. Die Graue‐Energieemission (PENRT) unserer Bestandsbauwerke weist bereits einen Anteil von ca. 25 % der Gesamtemissionen mit einer stark steigenden Tendenz auf, da das Bauaufkommen zukünftig nicht abnehmen wird. Wir sollten den Mut haben, bereits vorhandene Technologien in Neubauten umzusetzen, wo Planer und Fertigteilhersteller in der Auswahl des Materials, der Struktur und der Herstellung von Bauteilen einen wesentlichen Beitrag zur Reduzierung der Grauen Energie leisten können. Dieser Bericht zeigt anhand einiger innovativer Hochleistungsfertigteile, wie Dach‐, Decken‐, Wand‐, Stiegen‐ und Balkonelemente des Hochbaus, die Vorteile gegenüber einer gängigen Ortbetonbauweise in Bezug auf Kreislauffähigkeit, Dauerhaftigkeit sowie das mögliche Einsparungspotenzial im Ressourcen‐ (ΔR) und Energieverbrauch (ΔE). Anhand eines konkreten Anwendungsbeispiels, bei dem Hochleistungsfertigteile in einem Wohnungsgebäude zur Anwendung kommen, sind konkrete Einsparungsmengen in t CO2e angegeben. Es zeigt eindrucksvoll, dass mit der Umsetzung bereits vorhandener Technologie maßgebliche Veränderungen im Emissionsverhalten von Gebäuden möglich sind, erfordert, jedoch von den Beteiligten ein Wählen, Wollen, Wagen und ein Wiederholen. Diesbezüglich sind wir alle gemeinsam aufgefordert, einen Beitrag zu leisten.
Human adipose mesenchymal stromal cells growing into PCL‐nHA electrospun scaffolds undergo hypoxia adaptive ultrastructural changes
Authors: Frontini‐López Yesica R. , Rivera Lautaro , Aldana Ana A. , Rivero Guadalupe , Liverani Liliana , Abraham Gustavo A. , Boccaccini Aldo R. , Bustos Diego M. , Uhart Marina 
Published: January 2023

AbstractHuman Adipose‐Derived Mesenchymal Stem/Stromal Cells (hAD‐MSCs) have great potential for tissue regeneration. Since transplanted hAD‐MSCs are likely to be placed in a hypoxic environment, culturing the cells under hypoxic conditions might improve their post‐transplantation survival and regenerative performance. The combination of hAD‐MSCs and PCL‐nHA nanofibers synergically improves the contribution of both components for osteoblast differentiation. In this work, we hypothesized that this biomaterial constitutes a hypoxic environment for hAD‐MSCs. We studied the cellular re‐arrangement and the subcellular ultrastructure by Transmission Electron Microscopy (TEM) of hAD‐MSCs grown into PCL‐nHA nanofibers, and we compared them with the same cells grown in two‐dimensional cultures, over tissue culture‐treated plastic, or glass coverslips. Among the most evident changes, PCL‐nHA grown cells showed enlarged mitochondria, and accumulation of glycogen granules, consistent with a hypoxic environment. We observed a 3.5 upregulation (p = 0.0379) of Hypoxia Inducible Factor (HIF)‐1A gene expression in PCL‐nHA grown cells. This work evidences for the first time intra‐cellular changes in three‐dimensional compared to two‐dimensional cultures, which are adaptive responses of the cells to an environment more closely resembling that of the in vivo niche after transplantation, thus PCL‐nHA nanofibers are adequate for hAD‐MSCs pre‐conditioning.