bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
Authors: Coppola Antonietta , Krithika S. , Iacomino Michele , Bobbili Dheeraj , Balestrini Simona , Bagnasco Irene , Bilo Leonilda , Buti Daniela , Casellato Susanna , Cuccurullo Claudia , Ferlazzo Edoardo , Leu Costin , Giordano Lucio , Gobbi Giuseppe , Hernandez‐Hernandez Laura , Lench Nick , Martins Helena , Meletti Stefano , Messana Tullio , Nigro Vincenzo , Pinelli Michele , Pippucci Tommaso , Bellampalli Ravishankara , Salis Barbara , Sofia Vito , Striano Pasquale , Striano Salvatore , Tassi Laura , Vignoli Aglaia , Vaudano Anna Elisabetta , Viri Maurizio , Scheffer Ingrid E. , May Patrick , Zara Federico , Sisodiya Sanjay M. 
Published: December 2023

AbstractObjectiveEpilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether other genes are also involved, or a single gene is uniquely linked with EEM, or its subtypes, is not yet known. We aimed to dissect the genetic etiology of EEM.MethodsWe studied a cohort of 105 individuals by using whole exome sequencing. Individuals were divided into two groups: EEM− (isolated EEM) and EEM+ (EEM accompanied by intellectual disability [ID] or any other neurodevelopmental/psychiatric disorder).ResultsWe identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CHD2, one in NEXMIF, one in SYNGAP1, and one in TRIM8) were found in the EEM+ subcohort (28.57%). Only one variant (IFIH1) was found in the EEM− subcohort (1.29%); however, because the phenotype of the proband did not fit with published data, additional evidence is needed before considering IFIH1 variants and EEM− an established association. Burden analysis did not identify any single burdened gene or gene set.SignificanceOur results suggest that for EEM, as for many other epilepsies, the identification of a genetic cause is more likely with comorbid ID and/or other neurodevelopmental disorders. Pathogenic variants were mostly found in CHD2, and the association of CHD2 with EEM+ can now be considered a reasonable gene–disease association. We provide further evidence to strengthen the association of EEM+ with NEXMIF and SYNGAP1. Possible new associations between EEM+ and TRIM8, and EEM− and IFIH1, are also reported. Although we provide robust evidence for gene variants associated with EEM+, the core genetic etiology of EEM− remains to be elucidated.
Widespread, depth‐dependent cortical microstructure alterations in pediatric focal epilepsy
Authors: Casella Chiara , Vecchiato Katy , Cromb Daniel , Guo Yourong , Winkler Anderson M. , Hughes Emer , Dillon Louise , Green Elaine , Colford Kathleen , Egloff Alexia , Siddiqui Ata , Price Anthony , Grande Lucilio Cordero , Wood Tobias C. , Malik Shaihan , Teixeira Rui Pedro A. G. , Carmichael David W. , O'Muircheartaigh Jonathan 
Published: December 2023

AbstractObjectiveTissue abnormalities in focal epilepsy may extend beyond the presumed focus. The underlying pathophysiology of these broader changes is unclear, and it is not known whether they result from ongoing disease processes or treatment‐related side effects, or whether they emerge earlier. Few studies have focused on the period of onset for most focal epilepsies, childhood. Fewer still have utilized quantitative magnetic resonance imaging (MRI), which may provide a more sensitive and interpretable measure of tissue microstructural change. Here, we aimed to determine common spatial modes of changes in cortical architecture in children with heterogeneous drug‐resistant focal epilepsy and, secondarily, whether changes were related to disease severity.MethodsTo assess cortical microstructure, quantitative T1 and T2 relaxometry (qT1 and qT2) was measured in 43 children with drug‐resistant focal epilepsy (age range = 4–18 years) and 46 typically developing children (age range = 2–18 years). We assessed depth‐dependent qT1 and qT2 values across the neocortex, as well as their gradient of change across cortical depths. We also determined whether global changes seen in group analyses were driven by focal pathologies in individual patients. Finally, as a proof‐of‐concept, we trained a classifier using qT1 and qT2 gradient maps from patients with radiologically defined abnormalities (MRI positive) and healthy controls, and tested whether this could classify patients without reported radiological abnormalities (MRI negative).ResultsWe uncovered depth‐dependent qT1 and qT2 increases in widespread cortical areas in patients, likely representing microstructural alterations in myelin or gliosis. Changes did not correlate with disease severity measures, suggesting they may represent antecedent neurobiological alterations. Using a classifier trained with MRI‐positive patients and controls, sensitivity was 71.4% at 89.4% specificity on held‐out MRI‐negative patients.SignificanceThese findings suggest the presence of a potential imaging endophenotype of focal epilepsy, detectable irrespective of radiologically identified abnormalities.
Fire transforms effects of terrestrial subsidies on aquatic ecosystem structure and function
Authors: Wall Christopher B. , Spiegel Cody J. , Diaz Evelyn M. , Tran Cindy H. , Fabiani Alexia , Broe Taryn Y. , Perez‐Coronel Elisabet , Jackrel Sara L. , Mladenov Natalie , Symons Celia C. , Shurin Jonathan B. 
Published: December 2023

AbstractFire can lead to transitions between forest and grassland ecosystems and trigger positive feedbacks to climate warming by releasing CO2 into the atmosphere. Climate change is projected to increase the prevalence and severity of wildfires. However, fire effects on the fate and impact of terrestrial organic matter (i.e., terrestrial subsidies) in aquatic ecosystems are unclear. Here, we performed a gradient design experiment in freshwater pond mesocosms adding 15 different amounts of burned or unburned plant detritus and tracking the chronology of detritus effects at 10, 31, 59, and 89 days. We show terrestrial subsidies had time‐ and mass‐dependent, non‐linear impacts on ecosystem function that influenced dissolved organic carbon (DOC), ecosystem metabolism (net primary production and respiration), greenhouse gas concentrations (carbon dioxide [CO2], methane [CH4]), and trophic transfer. These impacts were shifted by fire treatment. Burning increased the elemental concentration of detritus (increasing %N, %P, %K), with cascading effects on ecosystem function. Mesocosms receiving burned detritus had lower [DOC] and [CO2] and higher dissolved oxygen (DO) through Day 59. Fire magnified the effects of plant detritus on aquatic ecosystem metabolism by stimulating photosynthesis and respiration at intermediate detritus‐loading through Day 89. The effect of loading on DO was similar for burned and unburned treatments (Day 10); however, burned‐detritus in the highest loading treatments led to sustained hypoxia (through Day 31), and long‐term destabilization of ecosystem metabolism through Day 89. In addition, fire affected trophic transfer by increasing autochthonous nitrogen source utilization and reducing the incorporation of 15N‐labeled detritus into plankton biomass, thereby reducing the flux of terrestrial subsidies to higher trophic levels. Our results indicate fire chemically transforms plant detritus and alters the role of aquatic ecosystems in processing and storing carbon. Wildfire may therefore induce shifts in ecosystem functions that cross the boundary between aquatic and terrestrial habitats.
Groundwater is a hidden global keystone ecosystem
Authors: Saccò Mattia , Mammola Stefano , Altermatt Florian , Alther Roman , Bolpagni Rossano , Brancelj Anton , Brankovits David , Fišer Cene , Gerovasileiou Vasilis , Griebler Christian , Guareschi Simone , Hose Grant C. , Korbel Kathryn , Lictevout Elisabeth , Malard Florian , Martínez Alejandro , Niemiller Matthew L. , Robertson Anne , Tanalgo Krizler C. , Bichuette Maria Elina , Borko Špela , Brad Traian , Campbell Matthew A. , Cardoso Pedro , Celico Fulvio , Cooper Steven J. B. , Culver David , Di Lorenzo Tiziana , Galassi Diana M. P. , Guzik Michelle T. , Hartland Adam , Humphreys William F. , Ferreira Rodrigo Lopes , Lunghi Enrico , Nizzoli Daniele , Perina Giulia , Raghavan Rajeev , Richards Zoe , Reboleira Ana Sofia P. S. , Rohde Melissa M. , Fernández David Sánchez , Schmidt Susanne I. , van der Heyde Mieke , Weaver Louise , White Nicole E. , Zagmajster Maja , Hogg Ian , Ruhi Albert , Gagnon Marthe M. , Allentoft Morten E. , Reinecke Robert 
Published: December 2023

AbstractGroundwater is a vital ecosystem of the global water cycle, hosting unique biodiversity and providing essential services to societies. Despite being the largest unfrozen freshwater resource, in a period of depletion by extraction and pollution, groundwater environments have been repeatedly overlooked in global biodiversity conservation agendas. Disregarding the importance of groundwater as an ecosystem ignores its critical role in preserving surface biomes. To foster timely global conservation of groundwater, we propose elevating the concept of keystone species into the realm of ecosystems, claiming groundwater as a keystone ecosystem that influences the integrity of many dependent ecosystems. Our global analysis shows that over half of land surface areas (52.6%) has a medium‐to‐high interaction with groundwater, reaching up to 74.9% when deserts and high mountains are excluded. We postulate that the intrinsic transboundary features of groundwater are critical for shifting perspectives towards more holistic approaches in aquatic ecology and beyond. Furthermore, we propose eight key themes to develop a science‐policy integrated groundwater conservation agenda. Given ecosystems above and below the ground intersect at many levels, considering groundwater as an essential component of planetary health is pivotal to reduce biodiversity loss and buffer against climate change.
The effect of graphitization degree of carbon and Si─O─C network on the electrochemical performance of SiOC anodes
Authors: Han Qing , Zhang Junzhan , Chen Hongxia , Wang Linxiang , Yuan Hudie , Hu Guoxin , Zhang Qiantao , Zhang Ying , Shi Zongmo 
Published: December 2023

AbstractSilicon oxycarbide (SiOC) is a promising anode material for lithium‐ion batteries, owing to the high capacity and superior structural stability. However, the application of SiOC anode is limited by its low conductivity and poor rate performance. Here, SiOC anodes were prepared by the pyrolysis of silicone resin (RSN‐217) at different temperatures (700, 850, 1000, and 1150° C), and the effect of graphitization degree and Si─O─C network on the electrochemical performance of SiOC anodes was investigated. The elemental and structural characteristics of the pyrolyzed SiOC ceramics at different temperatures were inspected using a broad spectrum of characterization techniques, and electrochemical performance testing methods, such as cyclic voltammetry and galvanostatic charge/discharge, were conducted on SiOC anode. SiOC‐1000 showed excellent electrochemical performance due to the highest graphitization degree of free carbon phase and the highest content of SiO2C2 and SiO3C units. Considerable research effort laid a foundation for exploring the lithium storage mechanism of SiOC anode.
Synthesize and crystallization behavior of SiOC/SiC nanocomposites derived from organosilane slurry residue
Authors: Guo Xiaolin , Wang Hong , Fu Ning , Xing Pengfei , Wang Shuai , Wu Bowen , Zhuang Yanxin 
Published: December 2023

AbstractA route preparing SiOC/SiC nanocomposites directly by pyrolysis of organosilane slurry residue was investigated. Organosilane slurry residue's unique composition, containing both silicon and carbon, offers an intriguing platform for developing advanced ceramic materials. The pyrolysis process is examined comprehensively, revealing the chemical reactions and structural changes leading to SiC crystals formation. The phase evolution at various annealing temperatures was revealed. Crystallization behavior in the process were studied. The results reveal that SiOC matrix was generated at annealed temperature 800°C and SiC nanoparticles were formed at 1300°C. In comparison to phase separation of SiOC, carbothermal reduction of SiO2 was domain in SiC formation. This research advances the understanding of SiOC/SiC nanocomposites, highlighting the value of repurposing industrial byproducts for sustainable and innovative materials development.
Influence of grain‐scale microstructural parameters on fracture toughness of polycrystalline ceramics: Dual scale finite element method
Authors: Cui Jinping , Guan Kang , Rao Pinggen , Gong Zhenyuan , Yu Shuyan , Zeng Qingfeng , Liu Jiantao 
Published: December 2023

AbstractFracture toughness is a basic property of ceramic materials, and it is strongly influenced by their microstructures. However, the influences of grain‐scale microstructural factors, including grain fracture energy, boundary fracture energy, and grain size of the microstructure, on the fracture toughness remain unclear. To investigate this, a dual‐scale finite element method was developed. Models were established to assess the microstructural mechanical properties, with an average grain size of 0.1–100 μm, and different grain boundary fracture energies and grain fracture energies. Based on the microstructural mechanical properties, a macroscale three‐point bending model, combined with the extended finite element method was used to evaluate the fracture toughness. The results indicated that fracture toughness increased with the decrease in the grain size when the grain size was below 5 μm. Conversely, when the grain size was greater than 5 μm, the fracture toughness remained relatively constant. Additionally, the grain boundary fracture energy played a more important role for the fracture toughness than the grain fracture energy. Finally, a formula that quantitatively describes the relationship between the microstructure and fracture toughness was obtained. This work provides a valuable reference for evaluating the performances of structural ceramics.
Structural heterogeneity induced enhancement of physical properties in Sm‐modified K0.5Na0.5NbO3
Authors: Sahoo Satyaranjan , Pradhan Dhiren K. , Kumari Shalini , Samantaray Koyal Suman , Singh Charanjeet , Mishra Anupam , Rahaman Md. Mijanur , Behera Banarji , Kumar Ashok , Thomas Reji , Rack Philip D. , Pradhan Dillip K. 
Published: December 2023

AbstractDoping of suitable metal ions in ferroelectric oxides modifies the physical properties and can induce additional functionalities. Here, we present a detailed study on the effects of Sm concentration on the structural, dielectric, ferroelectric, and piezoelectric properties of ((K0.5Na0.5)1−3xSmx)NbO3 (KNSN) (0.00 ≤ x ≤ 0.02) ceramics. X‐ray diffraction and Raman spectroscopic analysis indicate that KNSN ceramics exhibit the single‐phase orthorhombic (Amm2) structure for x = 0.00 and the coexistence of orthorhombic and tetragonal (Amm2 + P4mm) structure for the composition range 0.005 ≤ x ≤ 0.02. The tetragonal phase fraction increases with an increase in Sm concentration. We observed dielectric relaxation behavior in KNSN at orthorhombic to tetragonal (TO–T) phase transition temperature, and its origin can be attributed to the structural heterogeneity at the inter‐ferroelectric phase boundary. Increasing Sm concentration leads to the broadening of the ferroelectric phase transition peaks. Further, the structural heterogeneity of the ceramics was seen from the slope of the dielectric constant versus log frequency and central peak behavior of Raman spectra at room temperature (RT). The study reveals that x = 0.005 shows maximum dielectric constant (Ɛr = 583), remanent polarization (2Pr = 57.02 μC/cm2), and piezoelectric coefficient (d33 = 94 pC/N) at RT and is associated with increased local structural heterogeneity due to Sm doping.
Classification of psychodermatological disorders: Proposal of a new international classification
Authors: Ferreira Bárbara Roque , Vulink Nienke , Mostaghimi Ladan , Jafferany Mohammad , Balieva Flora , Gieler Uwe , Poot Françoise , Reich Adam , Romanov Dmitry , Szepietowski Jacek C. , Tomas‐Aragones Lucia , Campos Ricardo , Tausk Francisco , Zipser Marie , Bewley Anthony , Misery Laurent 
Published: December 2023

AbstractIntroductionSeveral classifications of psychodermatology disorders have been proposed, with most of them based on two to four main disorder category groups. However, there is, to date, no classification that has resulted from a consensus established by psychodermatology experts. The DSM‐5‐TR (Diagnostic and statistical manual of mental disorders (5th ed.), Text Revision) and the ICD‐11 (International classification of diseases (11th revision)) also do not provide a systematized approach of psychodermatology disorders. Taking into consideration that classifications are a key pillar for a comprehensive approach to the pathologies of each branch of medicine, the proposal of a classification in psychodermatology appeared as a central need for the recognition of psychodermatological disorders, in an attempt to improve their recognition and, in that sense, to find a common language for the development of this subspecialty that crosses dermatology and psychiatry.MethodsPreviously published classifications in psychodermatology were critically reviewed and discussed by expert opinion from an international multidisciplinary panel of 16 experts in psychodermatology and a new classification system is proposed, considering classical concepts in general dermatology and psychopathology.ResultsTwo main categories of disorders are presented (a main group related to primary mental health disorders and another main group related to primary skin disorders), which are subsequently subdivided into subgroups considering pathophysiological and phenomenological similarities, including key aspects of dermatological examination, namely the presence of visible skin lesions (primary and secondary skin lesions) and psychopathological correlates.ConclusionThis new classification aims to unify previous classifications, systematize the disorders that belong to psychodermatology and highlight their tenuous boundaries, to improve their management. It has been built and approved by the Psychodermatology Task Force of the European Academy of Dermatology and Venereology (EADV), the European Society for Dermatology and Psychiatry (ESDaP) and the Association for Psychoneurocutaneous Medicine of North America (APMNA).
An attachment perspective on couple interaction: Helping couples signal needs clearly and respond appropriately
Authors: Seedall Ryan B. , Wampler Karen S. 
Published: December 2023

AbstractAttachment theory provides some important insights into couple relationships, including highlighting the importance of communicating one's needs clearly while also having a partner who is properly attuned and appropriately responsive to those needs. The purpose of this study was to provide an initial empirical examination of the signal‐response dynamic. More specifically, we used data from 63 couples to examine the efficacy (in terms of psychophysiological arousal and feelings toward their partner) of a micro‐intervention designed to help couples improve their signaling and responding when compared to a seminatural condition where the discussion more closely resembled how couples interact at home. We also explored the emotional experience of participants in various signaling and responding roles. Overall, we found preliminary evidence for addressing signaling and responding dynamics. We also found evidence that emotional experience varied according to signaling or responding roles. These findings have important potential clinical implications, which we discuss in depth.
Redistribution of heat‐producing elements during melting of Archean crust
Authors: Kinney Carson , Kendrick Jillian , Duguet Manuel , Yakymchuk Chris 
Published: December 2023

AbstractHeat generated from the decay of K, Th, and U plays a fundamental role in the differentiation and stabilization of Earth's continental crust. This is particularly important in the construction of Archean cratons that form the nuclei of Earth's continents. The Kapuskasing uplift is a rare exposure of an Archean‐age crustal cross‐section that provides a snapshot of crustal melting, differentiation, and compositional stratification. We integrate field observations, whole‐rock compositions, thermodynamic equilibrium and accessory mineral modelling with heat production and latency time modelling to provide insights into the partitioning of heat‐producing elements between residue and melt during anatexis of metabasites as well as the resulting effects on metamorphic timescales and the production of tonalite–trondhjemite–granodiorite (TTG) suites. We model six metabasite compositions ranging from relatively fertile greenschist facies metabasites to melt‐depleted residual mafic (upper‐)amphibolites to granulites. Heat‐producing elements are modelled to be partitioned between melt and residue; the dominant minerals in the residue that host these elements are apatite, hornblende, K‐feldspar, and epidote. At 800–850°C epidote is no longer stable, and the melt fraction is predicted to contain roughly half of the heat production capacity for the system. Apatite and melt are expected to be the dominant repositories for Th and U during anatexis; zircon is predicted to be completely consumed by 850°C, whereas apatite persists to higher temperatures and allanite is expected only in minor modal abundances at high‐P, low‐T conditions. The partitioning of heat‐producing elements into relatively low‐density melt decreases the heat production of the residual system during anatexis. Due to their high density and affinity for U and Th, epidote and apatite retain heat production capacity in the residue during metabasite melting. Thermal latency modelling of metamorphism suggests that enriched metabasite compositions require 38–46 My to increase the temperature from ~650 to 850°C (solidus temperature to peak metamorphic temperature of the Kapuskasing uplift), whereas estimates are considerably shorter for depleted compositions (7–25 My). Four of the six samples modelled require 60–70 My to reach 1000°C from the solidus. Our modelling of heat‐producing element partitioning and predicted proportions of melt suggest that enriched basaltic compositions are the most reasonable source of TTG magmas and our heating time modelling indicates the mantle as an equal to dominant source of heat for metabasite anatexis compared with radiogenic heat production.