bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
Authors: Alecu Julian E. , Saffari Afshin , Jumo Hellen , Ziegler Marvin , Strelko Oleksandr , Brownstein Catherine A. , Gonzalez‐Heydrich Joseph , Rodan Lance H. , Gorman Mark P. , Sahin Mustafa , Ebrahimi‐Fakhari Darius 
Published: March 2022

AbstractCAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a translational approach to the case of an 18‐year‐old patient who first presented with psychiatric symptoms followed by spastic gait, intention tremor, and neurogenic bladder dysfunction, consistent with a complex form of HSP. Exome sequencing showed compound‐heterozygous missense variants in CAPN1 (NM_001198868.2: c.1712A>G (p.Asn571Ser)/c.1991C>T (p.Ser664Leu)) and a previously reported heterozygous stop‐gain variant in RCL1. In silico analyses of the CAPN1 variants predicted a deleterious effect and in vitro functional studies confirmed reduced calpain‐1 activity and dysregulated downstream signaling. These findings support a diagnosis of SPG76 and highlight that the psychiatric symptoms can precede the motor symptoms in HSP. Our results also suggest that multiple genes can potentially contribute to complex neuropsychiatric diseases.
Power training alters somatosensory cortical activity of youth with cerebral palsy
Authors: Bergwell Hannah , Trevarrow Mike , Corr Brad , Baker Sarah , Reelfs Heidi , Wilson Tony W. , Moreau Noelle G. , Kurz Max J. 
Published: March 2022

AbstractObjectiveOur prior magnetoencephalographic (MEG) investigations demonstrate that persons with cerebral palsy (CP) have weaker somatosensory cortical activity than neurotypical (NT) controls, which is associated with reduced muscular strength and mobility. Power training can improve lower extremity isokinetic strength, muscular power, and walking performance of youth with CP. Potentially, these clinically relevant improvements are partially driven by changes in somatosensory processing. The objective of this investigation was to determine if power training has complementary changes in muscular function and somatosensory cortical activity in youth with CP.MethodsA cohort of youth with CP (N = 11; age = 15.90 ± 1.1 years) and NT controls (N = 10; Age = 15.93 ± 2.48 years) participated in this investigation. Youth with CP underwent 24 power training sessions. Pre‐post bilateral leg press 1‐repetition maximum (1RM), peak power production, 10‐m walking speed, and distance walked 1‐min were used as outcome measures. MEG neuroimaging assessed the changes in somatosensory cortical activity while at rest. NT controls only underwent a baseline MEG assessment.ResultsYouth with CP had a 56% increase in 1RM (p < 0.001), a 33% increase in peak power production (p = 0.019), and a 4% improvement in 1‐min walk (p = 0.029). Notably, there was a 46% increase in somatosensory cortical activity (p = 0.02).InterpretationThese results are the first to show that power training is associated with improvements in muscular function, walking performance, and the resting somatosensory cortical activity in individuals with CP. This treatment approach might be advantageous due to the potential to promote cortical and muscular plasticity, which appear to have carryover effects for improved walking performance.
High‐Precision Micropatterning of Polydopamine by Multiphoton Lithography
Authors: Topolniak Ievgeniia , Elert Anna Maria , Knigge Xenia , Ciftci Goksu Cinar , Radnik Jörg , Sturm Heinz 
Published: March 2022

AbstractMussel‐inspired polydopamine (PDA) initiates a multifunctional modification route that leads to the generation of novel advanced materials and their applications. However, existing PDA deposition techniques still exhibit poor spatial control, have a very limited capability of micropatterning, and do not allow local tuning of the PDA topography. Herein, PDA deposition based on multiphoton lithography (MPL) is demonstrated, which enables full spatial and temporal control with nearly total freedom of patterning design. Using MPL, 2D microstructures of complex design are achieved with pattern precision of 0.8 µm without the need of a photomask or stamp. Moreover, this approach permits adjusting the morphology and thickness of the fabricated microstructure within one deposition step, resulting in a unique tunability of material properties. The chemical composition of PDA is confirmed and its ability for protein enzyme immobilization is demonstrated. This work presents a new methodology for high‐precision and complete control of PDA deposition, enabling PDA incorporation in applications where fine and precise local surface functionalization is required. Possible applications include multicomponent functional elements and devices in microfluidics or lab‐on‐a‐chip systems.
In Situ Inorganic Ligand Replenishment Enables Bandgap Stability in Mixed‐Halide Perovskite Quantum Dot Solids
Authors: Wang Ya‐Kun , Singh Kamalpreet , Li Jiao‐Yang , Dong Yitong , Wang Xue‐Qi , Pina Joao M. , Yu You‐Jun , Sabatini Randy , Liu Yang , Ma Dongxin , Liu Jun , Liu Zeke , Gao Yiyuan , Voznyy Oleksandr , Ma Wanli , Fung Man‐Keung , Liao Liang‐Sheng , Sargent Edward H. 
Published: March 2022

AbstractInstability in mixed‐halide perovskites (MHPs) is a key issue limiting perovskite solar cells and light‐emitting diodes (LEDs). One form of instability arises during the processing of MHP quantum dots using an antisolvent to precipitate and purify the dots forming surface traps that lead to decreased luminescence, compromised colloidal stability, and emission broadening. Here, the introduction of inorganic ligands in the antisolvents used in dot purification is reported in order to overcome this problem. MHPs that are colloidally stable for over 1 year at 25 °C and 40% humidity are demonstrated and films that are stable under 100 W cm−2 photoirradiation, 4× longer than the best previously reported MHPs, are reported. In LEDs, the materials enable an EQE of 24.4% (average 22.5 ± 1.3%) and narrow emission (full‐width at half maximum of 30 nm). Sixfold‐enhanced operating stability relative to the most stable prior red perovskite LEDs having external quantum efficiency >20% is reported.
In Situ Investigation of Lithium Metal–Solid Electrolyte Anode Interfaces with ToF‐SIMS
Authors: Otto Svenja‐K. , Riegger Luise M. , Fuchs Till , Kayser Sven , Schweitzer Pascal , Burkhardt Simon , Henss Anja , Janek Jürgen 
Published: March 2022

AbstractSolid‐state batteries with a lithium metal anode (LMA) are promising candidates for the next generation of energy storage systems with high energy and power density. However, successful implementation of the LMA requires deeper insight into the lithium metal–solid electrolyte (Li|SE) interface. Since lithium is highly reactive, reaction products form when it comes into contact with most solid electrolytes (SEs) and the resulting interphase can have detrimental effects on cell performance. To better understand the formation of interphases, Li|SE interfaces are studied with time‐of‐flight secondary‐ion mass spectrometry (ToF‐SIMS), which provides chemical information with high sensitivity in 2D as well as 3D and is a valuable complement to commonly used techniques. To investigate the interphase, lithium is deposited in situ on SE pellets either through lithium vapor deposition or electrochemical lithium plating. Subsequent depth profiling provides information about the stability of the Li|SE interface and about the microstructure of the formed interphase. At the Li|Li6PS5Cl interface of lithium metal with argyrodite‐type Li6PS5Cl, an apparently covering Li2S‐rich layer is found as major part of the interphase. Independent of the deposition method, a combination of ToF‐SIMS and atomic force microscopy indicates a thickness of about 250 nm for the Li2S‐rich interlayer.
Ultra‐Fast Click Modification of Self‐Assembled Zwitterionic Copolymer Membranes for Enhanced Ion Selectivity
Authors: Mondal Abhishek N. , Lounder Samuel J. , Mazzaferro Luca , Asatekin Ayse 
Published: March 2022

AbstractMembranes that can separate small molecules and ions are of immense interest in various separations. Self‐assembling zwitterionic amphiphilic copolymers (ZACs) are extremely promising as exceptionally fouling‐resistant membrane selective layers with narrow size cut‐offs. However, it is difficult to tune their effective pore size within time frames compatible with roll‐to‐roll manufacturing. We report a novel, ultra‐fast approach for tuning the pore size of ZAC‐based membranes through thiol‐ene click chemistry that brings the needed post‐modification time from tens of minutes to only 10–40 s, making its integration feasible in large scale manufacturing systems. Resultant membranes have enhanced organic molecule and salt rejections, resulting in tunable mono‐/divalent ion selectivity. For instance, cross‐linking increases Na2SO4 rejections from <20% to up to 83%, while NaCl rejection remains below 30%. Furthermore, these membranes completely resist fouling by oil and proteins, outperforming commercial membranes. These results suggest that our cross‐linked membranes have the potential to be used in separations in the food industry, pharmaceutical manufacturing, and wastewater treatment.
Dystrophic Muscle Affects Motoneuron Axon Outgrowth and NMJ Assembly
Authors: Fornetti Ersilia , Testa Stefano , De Paolis Francesca , Fuoco Claudia , Bernardini Sergio , Pozo Devoto Victorio , Stokin Gorazd Bernard , Giannitelli Sara Maria , Rainer Alberto , Bigot Anne , Zoccali Carmine , Baldi Jacopo , Sandonà Doriana , Rizzi Roberto , Bearzi Claudia , Forte Giancarlo , Cannata Stefano , Gargioli Cesare 
Published: March 2022

AbstractThe Neuromuscular Junction (NMJ) is a chemical synapse localized between the terminal branches of the spinal motor neurons and myofibers. In the past two decades coculture systems to generate the NMJ in culture are developed to address concerns about animal models, despite the complexity of its highly specialized structure makes the in vitro modeling a challenging task. Microfluidics, unlike mass cocultures, allow spatial and temporal control over different microenvironment by manipulating either neural cells or muscle cell populations independently. Therefore, exploiting an organ‐on‐a‐chip approach, the aim is to obtain a reliable and predictive in vitro human model of NMJ in physiological and pathological conditions, to investigate the occurrence of synapse detriment in α‐sarcoglycanopathy, a subtype of limb‐girdle muscular dystrophy. For this purpose, motor neurons derived from human induced pluripotent stem cells (hiPSCs) and either healthy or α‐sarcoglycan mutant human myogenic progenitors are seeded in two separated chambers of a microfluidic device. Differentiated myotubes and hiPSCs‐derived motor neurons on‐chip are able to establish points of interaction where pre‐ and postsynaptic structures colocalize. Moreover, the attraction of motor neurons axons by muscle fibers and the NMJ maturation appear to be affected by the muscular compartment, being impaired by the dystrophic cellular component.
Photocurable Printed Piezocapacitive Pressure Sensor Based on an Acrylic Resin Modified with Polyaniline and Lignin
Authors: Arias‐Ferreiro Goretti , Ares‐Pernas Ana , Lasagabáster‐Latorre Aurora , Dopico‐García M. Sonia , Ligero Pablo , Pereira N. , Costa P. , Lanceros‐Mendez S. , Abad María‐José 
Published: March 2022

AbstractThe design of suitable materials for the manufacture of pressure sensors with high sensitivity and flexibility in wearable electronics is still a challenge. In this study, a flexible and portable pressure sensor is developed based on a photopolymeric formulation of polyaniline (PANI)/Lignin/acrylate. The amount of photoinitiator and the presence of lignin within the filler are investigated to obtain the best printability and capacitive response. Low PANI contents drastically increase the dielectric constant and 4 wt% photoinitiator improves the signal and sensitivity. A sensitivity of 0.012 kPa–1 is achieved in a linear range (0–10 kPa) with only 3.5 wt% PANI. Lignin improves both the dispersion of the filler within the matrix and the printability of the resin, due to lower absorptivity at the UV wavelength of the 3D printer. Thus, the PANI‐Lignin filler is selected for the fabrication of a piezocapacitive prototype transducer. The pressure transducer demonstrate its practical application by responding to a human footfall and transmitting its corresponding electrical signal. This study shows the enhanced properties of lignin modified PANI acrylate composites. Based on lignin, an abundant natural waste, a sustainable photocurable cost‐effective polymer is proposed for the fabrication of printable, wearable electronics.
Use of artificial intelligence as a didactic tool to improve ejection fraction assessment in the emergency department: A randomized controlled pilot study
Authors: Dadon Ziv , Butnaru Adi , Rosenmann David , Alper‐Suissa Liat , Glikson Michael , Alpert Evan A. 
Published: March 2022

AbstractObjectivesIncorporating artificial intelligence (AI) into echocardiography operated by clinicians working in the emergency department to accurately assess left‐ventricular ejection fraction (LVEF) may lead to better diagnostic decisions. This randomized controlled pilot study aimed to evaluate AI use as a didactic tool to improve noncardiologist clinicians’ assessment of LVEF from the apical 4‐chamber (A4ch) view.MethodsThis prospective randomized controlled pilot study tested the feasibility and acceptability of the incorporation of AI as a didactic tool by comparing the ability of 16 clinicians who work in the emergency department to assess LVEF before and after the introduction of an AI‐based ultrasound application. Following a brief didactic course, participants were randomly equally divided into an intervention and a control group. In each of the first and second sessions, both groups were shown 10 echocardiography A4ch clips and asked to assess LVEF. Following each clip assessment, only the intervention group was shown the results of the AI‐based tool. For the final session, both groups were presented with a new set of 40 clips and asked to evaluate the LVEF.ResultsIn the “normal‐abnormal” category evaluation, as related to own baseline accuracy assessment, the intervention group had an improvement in accuracy on 50 consecutive clip assessments compared with a decline in the control group (0.10 vs. −0.12, respectively, p = 0.038). In the “significantly reduced LVEF” category, the intervention group showed significantly less decline in clip assessment as compared to the control group (−0.03 vs. −0.12, respectively, p = 0.050).ConclusionsA study involving AI incorporation as a didactic tool for clinicians working in the emergency department appears feasible and acceptable. The introduction of an AI‐based tool to clinicians working in the emergency department improved the assessment accuracy of LVEF as compared to the control group.
Daytime napping and Alzheimer's dementia: A potential bidirectional relationship
Authors: Li Peng , Gao Lei , Yu Lei , Zheng Xi , Ulsa Ma Cherrysse , Yang Hui‐Wen , Gaba Arlen , Yaffe Kristine , Bennett David A. , Buchman Aron S. , Hu Kun , Leng Yue 
Published: March 2022

AbstractIntroductionDaytime napping is frequently seen in older adults. The longitudinal relationship between daytime napping and cognitive aging is unknown.MethodsUsing data from 1401 participants of the Rush Memory and Aging Project, we examined the longitudinal change of daytime napping inferred objectively by actigraphy, and the association with incident Alzheimer's dementia during up to 14‐year follow‐up.ResultsOlder adults tended to nap longer and more frequently with aging, while the progression of Alzheimer's dementia accelerates this change by more than doubling the annual increases in nap duration/frequency. Longer and more frequent daytime naps were associated with higher risk of Alzheimer's dementia. Interestingly, more excessive (longer or more frequent) daytime napping was correlated with worse cognition a year later, and conversely, worse cognition was correlated with more excessive naps a year later.DiscussionExcessive daytime napping and Alzheimer's dementia may possess a bidirectional relationship or share common pathophysiological mechanisms.
Waning locus coeruleus integrity precedes cortical tau accrual in preclinical autosomal dominant Alzheimer's disease
Authors: Jacobs Heidi I.L. , Becker John Alex , Kwong Kenneth , Munera Diana , Ramirez‐Gomez Liliana , Engels‐Domínguez Nina , Sanchez Justin S , Vila‐Castelar Clara , Baena Ana , Sperling Reisa A. , Johnson Keith A. , Lopera Francisco , Quiroz Yakeel T. 
Published: March 2022

AbstractIntroductionAutopsy studies recognize the locus coeruleus (LC) as one of the first sites accumulating tau in Alzheimer's disease (AD). Recent AD work related in vivo LC magnetic resonance imaging (MRI) integrity to tau and cognitive decline; however, relationships of LC integrity to age, tau, and cognition in autosomal dominant AD (ADAD) remain unexplored.MethodsWe associated LC integrity (3T‐MRI) with estimated years of onset, cortical amyloid beta, regional tau (positron emission tomography [PET]) and memory (Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Word‐List‐Learning) among 27 carriers and 27 non‐carriers of the presenilin‐1 (PSEN1) E280A mutation. Longitudinal changes between LC integrity and tau were evaluated in 10 carriers.ResultsLC integrity started to decline at age 32 in carriers, 12 years before clinical onset, and 20 years earlier than in sporadic AD. LC integrity was negatively associated with cortical tau, independent of amyloid beta, and predicted precuneus tau increases. LC integrity was positively associated with memory.DiscussionThese findings support LC integrity as marker of disease progression in preclinical ADAD.
Kinetics of catalyzed dehydrocondensation of hydrogen functionalized siloxane
Authors: Rebane Ingrid , Mäeorg Uno , Johanson Urmas , Ilisson Mihkel , Piirimägi Peeter , Tamm Tarmo 
Published: March 2022

AbstractThe kinetics of the platinum‐catalyzed dehydrocondensation reaction for five different mono‐alcohols and water is studied in order to identify the ones with the highest effectiveness in releasing gaseous H2 from the SiH groups of poly(methylhydrosiloxane) (PMHS). Our results show that the most common logic rules of alcohol reactivity do not apply in such reactions and that a set of aspects need to be considered together to understand or predict the outcome and the possible applications. In dehydrocondensation of PMHS, the use of Lamoreaux’ catalyst may be considered to be a cost‐effective alternative, a novel approach in characterizing catalyzed reaction kinetics under mild conditions. To the best of our knowledge, it is the first article describing the use of Lamoreaux’ in this approach.
Voltage stabilizer and nanofiller in enhancement of insulation properties of cross‐linked polyethylene
Authors: Chen Xiangrong , Hong Zelin , Dai Chao , Awais Muhammad , Meng Fan‐Bo , Paramane Ashish , Li Hao 
Published: March 2022

AbstractThis paper investigates the influence of voltage stabilizer and nanofiller addition on the insulation performance of the cross‐linked polyethylene (XLPE). The test samples of XLPE/stabilizer blends consisting of 1 wt% m‐aminobenzoic acid, XLPE nanocomposites consisting of 0.5 wt% nano MgO and XLPE hybrid composite consisting of both voltage stabilizer and nanofillers were prepared. Various physicochemical and electrical properties were measured to analyze the performance of prepared samples. The obtained results show that the addition of nanofillers deteriorates the electrical insulation performance of the XLPE. On the other hand, the voltage stabilizer addition proves to be suitable for enhancing the electrical insulation performance of the XLPE. Meanwhile, the hybrid XLPE composites have shown medium behavior. The voltage stabilizer addition reduces, but the nanofillers increase the space charge density inside the XLPE compared to pure XLPE. It is also found that the dispersion of the voltage stabilizer in the material is uniform, whereas the nanofillers are aggregated. Furthermore, both additives slightly improve the thermal stability of the XLPE. The trap level theory based on quantum chemical calculation is proposed to explain the influence mechanism of the additives on the XLPE.
Subject‐performed task effect on working memory performance in children with autism spectrum disorder
Authors: Wang Lijuan , Xie Tingting , Ma Huan , Xu Miao , Xie Xiaochun 
Published: March 2022

AbstractA previous study found that children with autism spectrum disorder (ASD) have better recall when they perform instructions (subject‐performed task [SPT]) than when they passively hear instructions (verbal task [VT]) in a working memory task for instructions, an effect that is called the SPT effect. This study explored whether the SPT effect exhibited by ASD children is caused by the movement component or by processing materials twice. More importantly, this study explored whether intelligence influences the SPT effect exhibited by ASD children. ASD children with three levels of intelligence (N = 56) and a control group, children with intellectual disability (ID) who had low intelligence but did not have ASD (N = 21), were asked to perform working memory tasks for instructions under VT, SPT and repeated (hearing the instruction twice) conditions. No significant difference in performance was observed between the VT and repeated conditions, regardless of the child's level of intelligence. ASD children with lower‐middle intelligence exhibited a smaller SPT effect than ASD children with upper‐middle intelligence. Critically, while ASD children with low intelligence did not exhibit the SPT effect, an ID group with equivalent low intelligence did show this effect. Therefore, these results show that the SPT effect for ASD children is caused by the movement component and is uniquely associated with a certain level of intelligence, namely, lower middle and higher levels of intelligence.Lay SummaryIn ASD children, the benefit of physically performing instructions for working memory performance is uniquely associated with a certain level of intelligence. Only ASD children with lower‐middle intelligence (and higher) benefit from physically performing instructions, and higher intelligence increases this benefit; ASD children with low intelligence do not show this benefit. This benefit in ASD children is attributed to the additional motoric code generated by physical performance.