bluuebunny/crossref_metadata_2025_split huggingface dataset:
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations
Authors: Rudd Ignatius , Gill Gulvir , Buckley Michael , Downie Lilian 
Published: August 2023

AbstractThe introduction of genomic testing into prenatal care has come at a rapid pace and has been met with significant clinical and ethical challenges, specifically when dealing with incidental findings. We present the case of a couple in their first pregnancy who were referred to our institution with isolated fetal cataracts on morphology scan. After an unremarkable infectious disease workup and microarray on an amniocentesis sample, the couple opted for fetal whole‐exome sequencing to investigate the cataracts further. This investigation did not find any cause for the cataracts but yielded an incidental finding of a de novo pathogenic variant in the SCN1A gene unrelated to the cataracts. Pathogenic variants in the SCN1A gene are strongly associated with severe myoclonic epilepsy of infancy, or Dravet syndrome. After extensive genetic counseling, the couple decided to terminate the pregnancy at 28 weeks' gestation based on this finding. This case highlights some of the important clinical and ethical considerations in prenatal genetic diagnosis, particularly in the group of patients in which there is no phenotypic evidence in‐utero of the incidental finding. The case demonstrates the value of frameworks and guidelines to guide management decisions for both clinicians and patients.
Mechanoaktivierte Selbstauflösung von Hydrogelen mittels eines Signalverstärkungsmechanismus
Authors: Lupfer Claudius , Seitel Sebastian , Skarsetz Oliver , Walther Andreas 
Published: August 2023

AbstractZelluläre Organismen verfügen über komplexe mechanoadaptive Systeme, die es ihnen ermöglichen, Kräfte zu spüren und sie mit (bio)chemischen Regelkreisläufen zur funktionellen Anpassung zu verarbeiten. Inspiriert durch solche Prozesse stellt diese Studie ein Hydrogelsystem vor, das zur mechanisch aktivierten und chemisch amplifizierten Selbstauflösung fähig ist. Die hierzu entwickelten Hydrogele können mechanisch Radikale erzeugen, die in einer sich selbst ausbreitenden radikalischen Entnetzungsreaktion verarbeitet und verstärkt werden, was letztendlich zu einer mechanisch ausgelösten Selbstauflösung führt. Wir setzen dieses System bei der mechanoinduzierten Ablösung und in einem Doppelschichtaktuator ein, bei dem die durch Schwellung verursachte Biegung ausreichend Kraft für den selektiven Abbau einer Schicht erzeugt, was zu einer autonomen Selbstregulierung im Zusammenhang mit der Entbiegung führt. Unsere Arbeit hilft bei der Definition von Designkriterien für molekular kontrollierte adaptive und selbstregulierende Materialien mit integrierter mechanochemischer Informationsverarbeitung und zeigt deren Potenzial für Adhäsive und die Soft Robotik auf.
2D Plasmonische Moleküle durch Wasserstoffbrückenbindungen zwischen polymerbeschichteten Nanopartikeln
Authors: Cai Yingying , Vana Philipp 
Published: August 2023

AbstractDie Nutzung makromolekularer Gestaltungsmittel zur Regulierung von nicht‐kovalenten Bindungen im Nanoskalenbereich ist eine junge und emporkommende Herstellungsmethode für fortgeschrittene Nanostrukturen. Zum ersten Mal beschreiben wir eine Methode der Selbstorganisation, um eine Serie 2D‐plasmonischer Moleküle (PM) herzustellen, die Wasserstoffbrückenwechselwirkungen zwischen Paaren polymerbeschichteter Goldnanopartikel ausnutzen (Wasserstoff‐brückendonator und ‐akzeptor). Wir fanden heraus, dass aufgrund der Natur von Wasserstoffbrückenwechselwirkungen die Polymerinteraktion und die Solvatisierung während des Selbstorganisationsprozesses miteinander konkurrieren. Dies erwies sich als die wichtigste Bedingung, um die Koordinationszahl der PM zu kontrollieren. Wir führten eine umfassende Studie hinsichtlich des Lösungsmitteleffekts durch, die uns half, eine Serie präziser PM mit hoher Symetrie zu entwerfen und herzustellen.
Mechano‐Activated Self‐Immolation of Hydrogels via Signal Amplification
Authors: Lupfer Claudius , Seitel Sebastian , Skarsetz Oliver , Walther Andreas 
Published: August 2023

AbstractCellular organisms possess intricate mechano‐adaptive systems that enable them to sense forces and process them with (bio)chemical circuits for functional adaptation. Inspired by such processes, this study introduces a hydrogel system capable of mechanically activated and chemically transduced self‐destruction. Our judiciously designed hydrogels can mechanically generate radicals that are processed and amplified in a self‐propagating radical de‐crosslinking reaction, ultimately leading to mechanically triggered self‐immolation. We put such systems to work in mechano‐induced debonding, and in a bilayer actuator, where swelling‐induced bending generates sufficient force for selective degradation of one layer, leading to autonomous self‐regulation associated with unbending. Our work helps define design criteria for molecularly controlled adaptive and self‐regulating materials with embodied mechano‐chemical information processing, and showcases their potential for adhesives and soft robotics.
Does the Ice Age legacy end in Central Europe? The shrinking distributions of glacial relict crustaceans in Lithuania
Authors: Audzijonyte Asta , Arbačiauskas Kęstutis , Smith Carl 
Published: August 2023

Abstract

Glacial relict crustaceans are characterized by their affinity for cold and well‐oxygenated waters and their limited dispersal ability. They occur in large, deep lakes of Northern and Central Europe and North America, with their distributions shaped by glaciation events. In many countries and especially along the southern distribution edge, glacial relict populations are declining as a result of eutrophication, global warming, and possible adverse interactions with invasive Ponto‐Caspian crustaceans.
This study assessed the status of three glacial relict malacostracan species (the amphipods Monoporeia affinis and Pallaseopsis quadrispinosa and the mysid Mysis relicta) in Lithuania and modelled their abundance across environmental variables, including the presence of Ponto‐Caspian malacostracans.
The results showed that M. affinis is probably extinct in the country, whereas M. relicta was found in only nine out of 16 locations from which it was previously recorded. The distribution of P. quadrispinosa also seems to be shrinking.
The annual water renewal rate (P. quadrispinosa and M. relicta) and lake depth (P. quadrispinosa) were significantly and positively associated with the relative abundance of relict mysids and amphipods, but no association was found with lake size or with the presence of invasive Ponto‐Caspian crustaceans. Both species were less abundant in samples collected in the 21st century compared with the 20th century.
Given the biogeographical and ecological importance of glacial relict crustaceans, their widespread declines are of concern and point to the deterioration of habitat quality, essential for other species with similar requirements. Urgent action is needed to improve water conditions and safeguard these communities. In cases where water quality improves, the reintroduction of extirpated relict populations should be considered. One example is Lake Drūkšiai, where these crustaceans became extinct during the operation of the Ignalina nuclear power plant but where conditions improved following the closure of the power plant in 2009.
Unravelling the transport of moisture into the Saharan Air Layer using passive tracers and isotopes
Authors: Dahinden Fabienne , Aemisegger Franziska , Wernli Heini , Pfahl Stephan 
Published: August 2023

AbstractThe subtropical free troposphere plays a critical role in the radiative balance of the Earth. However, the complex interactions controlling moisture in this sensitive region and, in particular, the relative importance of long‐range transport compared to lower‐tropospheric mixing, remain unclear. This study uses the regional COSMO model equipped with stable water isotopes and passive water tracers to quantify the contributions of different evaporative sources to the moisture and its stable isotope signals in the eastern subtropical North Atlantic free troposphere. In summer, this region is characterized by two alternating large‐scale circulation regimes: (i) dry, isotopically depleted air from the upper‐level extratropics, and (ii) humid, enriched air advected from Northern Africa within the Saharan Air Layer (SAL) consisting of a mixture of moisture of diverse origin (tropical and extratropical North Atlantic, Africa, Europe, the Mediterranean). This diversity of moisture sources in regime (ii) arises from the convergent inflow at low levels of air from different neighbouring regions into the Saharan heat low (SHL), where it is mixed and injected by convective plumes into the large‐scale flow aloft, and thereafter expelled to the North Atlantic within the SAL. Remarkably, this regime is associated with a large contribution of moisture that evaporated from the North Atlantic, which makes a detour through the SHL and eventually reaches the 850–550 hPa layer above the Canaries. Moisture transport from Europe via the SHL to the same layer leads to the strongest enrichment in heavy isotopes (δ2H correlates most strongly with this tracer). The vertical profiles over the North Atlantic show increased humidity and δ2H and reduced static stability in the 850–550 hPa layer, and smaller cloud fraction in the boundary layer in regime (ii) compared to regime (i), highlighting the key role of moisture transport through the SHL in modulating the radiative balance in this region.
Making creativity explicit: A workshop to foster creativity in biomedical science education
Authors: Kim Alice M. , Gibbons Jessica A. , Speed Caroline J. , Macaulay Janet O. 
Published: August 2023

AbstractPreviously we identified that biomedical science students commonly misunderstand “creativity,” mistaking it for “freedom.” In the present study, we describe and evaluate a workshop designed to increase students' awareness of creativity as a highly sought‐after employability skill and cognitive process applicable to scientific endeavors. To achieve this, we developed and introduced students to a process called the “Diamond Model,” utilizing a case study to contextualize and signpost the creative processes of divergent and convergent thinking. This model was introduced to students in the first workshop of a 12‐week undergraduate biochemistry unit (subject) within the Bachelor of Biomedical Science at Monash University, Australia. Students completed pre‐ and post‐workshop surveys to gauge the impact of the workshop on their conceptions of creativity and Bloom's taxonomy of learning. In addition, reflective journals were completed by a small subset of students (n = 9) following the workshop. Following the workshop, over 65% of students indicated that their conception of creativity had changed. Thematic analysis of students' survey responses and reflections indicated that this change in the conception of creativity included broadening their definition of creativity, increased awareness of creativity as a skill and science as a creative process, and that creativity can be applied to different areas of life. Students attributed the signposting of creative elements as a contributing factor to their increased awareness. These results indicate the positive impact the workshop and our novel Diamond model had on student conception of creativity, highlighting the importance of explicit communication and signposting in skill development.
Neurobehavioral effects of general anesthesia and cochlear implantation on hearing‐impaired infants: A prospective observational cohort study
Authors: Ma Li , Yu Yue , Zhou Xuhui , Shi Jinya , Le Nanyang , Liang Yudan , Li Jingjie , Jiang Hong 
Published: August 2023

AbstractIntroductionThe potential adverse effects of prolonged exposure to anesthetics in pediatric patients with severe‐to‐profound sensorineural hearing loss remain unclear. This study aimed to examine whether early bilateral cochlear implantation involving long‐duration anesthetic exposure caused greater developmental impairment than that with unilateral cochlear implantation.MethodsThis prospective observational study included normally developing infants with bilateral severe‐to‐profound sensorineural hearing loss aged 6 months to 2 years who were candidates for unilateral/bilateral cochlear implantation surgery. Baseline (T0), 6‐month (T1), and 1‐year (T2) Gesell Scale scores were measured. The outcomes included fine motor, adaptability, gross motor, language, and social skills scale 6 and 12 months postoperatively.ResultThe 90 enrolled children with bilateral severe‐to‐profound sensorineural hearing loss (unilateral n = 43; bilateral n = 47) had a younger bilateral group (11.00 ± 3.66 vs. 15.63 ± 6.99 months, p < .001). Anesthesia duration was longer in the bilateral group (271.57 ± 36.09 vs. 148.81 ± 25.60 min, p < .001). Gross motor, fine motor, adaptability, and language scores improved in both groups, and no significant between‐group differences occurred in the fine motor scale at T1 and T2. Language developmental quotients improved significantly in the bilateral group compared with the unilateral group at T1 (mean differences: 25.07 ± 4.37 vs. 10.88 ± 4.61, p < .001) and T2 (mean differences: 34.98 ± 5.94 vs. 15.28 ± 6.55, p < .001). Stepwise regression revealed that gross motor, adaptability, language, and social skill developmental quotients at T1 were positively correlated with those at T0. Gross motor, fine motor, and social skill developmental quotients at T2 were negatively correlated with age at operation. Language developmental quotients were positively correlated with T0 values (p < .001) and in the bilateral group (p < .001) at T1 and T2.ConclusionsWhen evaluating young children with bilateral severe‐to‐profound sensorineural hearing loss, despite longer exposures to general anesthesia, bilateral cochlear implantations were associated with more improvement in language scores and no differences in other skills compared with those with only unilateral implantation.
The coalescence effect: Understanding the impact of customer value proposition, perceived benefits and climate change sensitivities on electric vehicle adoption in India
Authors: Chaudhary Prashant , Kate Nilesh 
Published: August 2023

AbstractThe overarching objective of this study is to understand factors that influence the customer attitude and eventually purchase intention towards electrical vehicles (EVs). Market survey was done in major cities of 3 states of India to examine the customer attitude and purchase intention towards (EVs). The collected data was analyzed by using partial least squares‐structural equation modeling techniques. It has been found that the factors like overall customer value (performance and cost), awareness and sensitivities towards the climate change, and perceived benefits are the major factors that influence the attitude and subsequently the adoption of EVs by millennials. The factors like perceived price and social acceptance are relatively less significant in terms of their influence on the attitude and purchase intention towards EVs. Hence, it has been concluded that the environmental concern, performance features, infrastructure facility positively influence the attitude and purchase intention towards EVs. This study essentially underscores the importance and role of coordinated impact of performance, features, and infrastructure and climate change sensitivities in influencing and enhancing the adoption of EVs in India, in the context of current market scenario. Hence, this study contributes by providing actionable insights to manufactures and government for developing and communicating pragmatic value proposition to promote EVs. This study brings fresh perspectives on creating positive attitude and purchase intention towards the EVs by providing a model that could be leveraged for devising a long term and sustainable strategy.
Diagnostic accuracy of risk assessment and fecal immunochemical test in colorectal cancer screening: Results from a population‐based program and meta‐analysis
Authors: Wang Ziyang , Teng Jiaoyue , Wu Weimiao , Dou Jianming , Wong Martin C. S. , Gong Yangming , Huang Junjie , Gu Kai , Xu Wanghong 
Published: August 2023

AbstractBackgroundFecal immunochemical test (FIT) is a commonly used initial test for colorectal cancer (CRC) screening. Parallel use of FIT with risk assessment (RA) could improve the detection of non‐bleeding lesions, but at the expense of compromising sensitivity. In this study, we evaluated the accuracy of FIT and/or RA in the Shanghai CRC screening program, and systematically reviewed the relevant evaluations worldwide.MethodsRA and 2‐specimen FIT were used in parallel in the Shanghai screening program, followed by a colonoscopy among those with positive results. Sensitivity, specificity, detection rate of CRC, positive predictive value (PPV), and other measures with their 95% confident intervals were calculated for each type of tests and several assumed combined tests. We further searched PubMed, Embase, Web of Science, and Cochrane Library for relevant studies published in English up to January 5, 2022.ResultsBy the end of 2019, a total of 1,901,360 participants of the screening program completed 3,045,108 tests, with 1,901,360 first‐time tests and 1,143,748 subsequent tests. Parallel use of RA and 2‐specimen FIT achieved a sensitivity of 0.78 (0.77–0.80), a specificity of 0.78 (0.78–0.78), PPV of 0.89% (0.86–0.92), and a detection rate of 1.99 (1.93–2.05) for CRC per 1000 among participants enrolled in the first screening round, and performed similarly among those who participated for several times. A meta‐analysis of 103 published observational studies demonstrated a higher sensitivity [0.76 (0.36, 0.94)] but a much lower specificity [0.59 (0.28, 0.85)] of parallel use of RA and FIT for detecting CRC in average‐risk populations than in our subjects. One‐specimen FIT, the most commonly used initial test, had a pooled specificity comparable to the Shanghai screening program (0.92 vs. 0.91), but a much higher pooled sensitivity (0.76 vs. 0.57).ConclusionOur results indicate the limitation of FIT only as an initial screening test for CRC in Chinese populations, and highlight the higher sensitivity of parallel use of RA and FIT. Attempts should be made to optimize RA to improve effectiveness of screening in the populations.
Antifungal Properties of Essential Oils Derived from the Genus Cymbopogon: A Systematic Review
Authors: Butzge Juliana Caroline , Pivotto Christiane , Mezzomo Leticia , Ferrão Simone Krause , Picanço João Marcelo Astolfi , Mezzari Adelina , Calil Luciane Noal , Limberger Renata Pereira , Apel Miriam A. 
Published: August 2023

AbstractEssential oils (EOs) are products of secondary metabolism with recognized organoleptic characteristics and biological properties. Recently, there has been a growing demand for EOs in the national and international market, mainly due to the recognition of their use as complementary medicine practices, and the increased use in the industries of pharmaceutics, cosmetics, well‐being, veterinary and agroecology, boosting the productive sector. In this context, EOs from grasses of the Cymbopogon (Poaceae) are promising sources of bioactive compounds, due to their recognized biological properties, such as anti‐inflammatory, antibacterial, antifungal, antidiabetic, repellent, and larvicide. Thus, the present study aims to carry out a review of the scientific literature of the main works related to the evaluation of the antifungal action of essential oils extracted from plants of the Cymbopogon genus, compiling the species that showed the best results and relating them to their main chemical constituents. This review covers the following species: C. citratus, C. flexuosus, C. winterianus, C. martinii, C. nardus, C. giganteus, C. schoenanthus, C. khasans, and C. proximus. Among them, C. citratus was the most assessed, being associated with the vast majority of studies (61.9 %), and it was also the species that showed the best results in terms of MIC.
Two Pairs of New Bisabolane‐Type Sesquiterpenoids from Aspergillus sydowii
Authors: Jiang Yaqin , Cui Chenyang , Chen Chunmei , Wang Nina , Liao Hong , Li Qin , Mao Lina , Ding Nanjin , Kang Jinbing , Zhou Jiajun , Zhu Hucheng , Lai Yongji , Wang Zhiping , Zhou Qun , Zhang Yonghui 
Published: August 2023

AbstractTwo pairs of new bisabolane‐type sesquiterpenoids, (+)‐aspersydowin A (7S) [(+)‐1], (−)‐aspersydowin A (7R) [(−)‐1], (+)‐aspersydowin B (7S,11S) [(+)‐2], (−)‐aspersydowin B (7R,11R) [(−)‐2], along with six known compounds (1–8) were isolated from the fungus Aspergillus sydowii. Compounds 1 and 2 are enantiomers resolved by the Chiralpak IC, using a hexane‐ propan‐2‐ol mobile phase. The structure of 1 and 2 with absolute configuration were assigned tentatively by 1D (1H, 13C, and DEPT) & 2D (HSQC, 1H–1H COSY, HMBC, and NOESY) NMR data analyses and ECD calculations. Compounds 1–8 were screened for the biological activities in vitro. The results showed that compounds 3, 4 and 8 exhibited immunosuppressive activities with IC50 values of 10.9, 17.6 and 13.4 μM, respectively.
A Cell‐Free Multi‐enzyme Cascade Reaction for the Synthesis of CDP‐Glycerol
Authors: Alberto Alcalá‐Orozco E. , Grote Valerian , Fiebig Timm , Klamt Steffen , Reichl Udo , Rexer Thomas 
Published: August 2023

AbstractCDP‐glycerol is a nucleotide‐diphosphate‐activated version of glycerol. In nature, it is required for the biosynthesis of teichoic acid in Gram‐positive bacteria, which is an appealing target epitope for the development of new vaccines. Here, a cell‐free multi‐enzyme cascade was developed to synthetize nucleotide‐activated glycerol from the inexpensive and readily available substrates cytidine and glycerol. The cascade comprises five recombinant enzymes expressed in Escherichia coli that were purified by immobilized metal affinity chromatography. As part of the cascade, ATP is regenerated in situ from polyphosphate to reduce synthesis costs. The enzymatic cascade was characterized at the laboratory scale, and the products were analyzed by high‐performance anion‐exchange chromatography (HPAEC)‐UV and matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOF‐MS). After the successful synthesis had been confirmed, a design‐of‐experiments approach was used to screen for optimal operation conditions (temperature, pH value and MgCl2 concentration). Overall, a substrate conversion of 89 % was achieved with respect to the substrate cytidine.
Single Crystals of Insoluble Porous Salicylimine Cages
Authors: Holsten Mattes , Elbert Sven M. , Rominger Frank , Zhang Wen‐Shan , Schröder Rasmus R. , Mastalerz Michael 
Published: August 2023

AbstractPorous organic cages (POCs) are meanwhile an established class of porous materials. Most of them are soluble to a certain extend and thus processable in or from solution. However, a few of larger salicylimine cages were reported to be insoluble in any organic solvents and thus characterized as amorphous materials. These cages were now synthesized as single‐crystalline materials to get insight into packing motifs and preferred intermolecular interactions. Furthermore, the pairs of crystalline and amorphous materials for each cage allowed to compare their gas‐sorption properties in both morphological states.