bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Authors: Di Candia Francesca , Fontana Paolo , Paglia Pamela , Falco Mariateresa , Rosano Carmen , Piscopo Carmelo , Cappuccio Gerarda , Siano Maria Anna , De Brasi Daniele , Mandato Claudia , De Maggio Ilaria , Squeo Gabriella Maria , Monica Matteo Della , Scarano Gioacchino , Lonardo Fortunato , Strisciuglio Pietro , Merla Giuseppe , Melis Daniela 
Published: July 2021

AbstractKabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis.

What is Known• Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability• Immune dysfunction is a common finding but autoimmune diseases are rarely seen• Neurological features are common

What is New• Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus)• Higher prevalence of autoimmune disorders than previously reported• Particular neurological features are present in this cohort (EEG and MRI brain abnormalities)
Exploring the relationship among dispositional optimism, health-related quality of life, and CIPN severity among colorectal cancer patients with chronic peripheral neuropathy
Authors: Trompetter Hester.R. , Bonhof Cynthia S. , van de Poll-Franse Lonneke V. , Vreugdenhil Gerard , Mols Floortje 
Published: July 2021

Abstract
Purpose
Chemotherapy-induced peripheral neuropathy ((CI)PN) becomes chronic in 30% of cancer patients. Knowledge of predictors of chronic (CI)PN and related impairments in health-related quality of life (HRQoL) is lacking. We examined the role of optimism in chronic (CI)PN severity and associated HRQoL in colorectal cancer (CRC) patients up to two years after diagnosis.

Methods
CRC patients from a prospective cohort study participated, with sensory peripheral neuropathy (SPN) 1 year after diagnosis (n = 142). Multivariable regression analyses examined the cross-sectional association between optimism (measured by the LOT-R) and SPN severity/HRQoL (measured by the EORTC QLQ-CIPN20 and QLQ-C30), as well as the prospective association in a subsample that completed measures 2 years after diagnosis and still experienced SPN (n = 86).

Results
At 1-year follow-up, higher optimism was associated with better global HRQoL, and better physical, role, emotional, cognitive, and social functioning (all p < .01). Optimism at year one was also prospectively associated with better global HRQoL (p < .05), and emotional and cognitive functioning at 2-year follow-up (both p < .01). Optimism was not related to self-reported SPN severity. Significant associations were retained when controlling for demographic/clinical variables, and became non-significant after controlling for depressive and anxiety symptoms.

Conclusions
Optimism and depressive and anxiety symptoms are associated with HRQoL in CRC patients with chronic (CI)PN. Future research may illuminate the mechanisms that these factors share, like the use of (non)adaptive coping styles such as avoidance and acceptance that may inform the design of targeted interventions to help patients to adapt to chronic (CI)PN.
Corona discharge of a vibrated insulating box with granular medium
Authors: Schoenau Laurent , Steinpilz Tobias , Teiser Jens , Wurm Gerhard 
Published: July 2021

AbstractCorona discharges are luminous signs of strong local electric fields allowing a continuous discharge into the surrounding atmosphere. They commonly occur at the ends of conductors at high voltage. Here we report the observation of a faint glow surrounding an insulating cm-sized box filled with mm-sized basalt beads. At an ambient pressure in the mbar range two light bands occur as soon as and only if the box is vibrated and only if it is filled with a granular medium. In addition, a glow also occurs at the inside of the box. We measured periodic electric fields at the outside of the box with spatial peaks at the positions of the light bands. The period correlates to the vibration frequency. These observations imply strong alternating fields beyond atmospheric breakdown, which are generated inside and also emerge at the outside of the insulating box. The observations can be explained by tribocharging and periodic displacement of charges between grains and the inside walls of the box.
Systemic risk measurement: bucketing global systemically important banks
Authors: Brogi Marina , Lagasio Valentina , Riccetti Luca 
Published: July 2021

AbstractThe general consensus on the need to enhance the resilience of the financial system has led to the imposition of higher capital requirements for certain institutions, supposedly based on their contribution to systemic risk. Global Systemically Important Banks (G-SIBs) are divided into buckets based on their required additional capital buffers ranging from 1% to 3.5%. We measure the marginal contribution to systemic risk of 26 G-SIBs using the Distressed Insurance Premium methodology proposed by Huang et al. (J Bank Financ 33:2036–2049, 2009) and examine ranking consistency with that using the SRISK of Acharya et al. (Am Econ Rev 102:59–64, 2012). We then compare the bucketing using the two academic approaches and supervisory buckets. Because it leads to capital surcharges, bucketing should be consistent, irrespective of methodology. Instead, discrepancies in the allocation between buckets emerge and this suggests the complementary use of other methodologies.
Deep reinforcement learning methods for structure-guided processing path optimization
Authors: Dornheim Johannes , Morand Lukas , Zeitvogel Samuel , Iraki Tarek , Link Norbert , Helm Dirk 
Published: July 2021

AbstractA major goal of materials design is to find material structures with desired properties and in a second step to find a processing path to reach one of these structures. In this paper, we propose and investigate a deep reinforcement learning approach for the optimization of processing paths. The goal is to find optimal processing paths in the material structure space that lead to target-structures, which have been identified beforehand to result in desired material properties. There exists a target set containing one or multiple different structures, bearing the desired properties. Our proposed methods can find an optimal path from a start structure to a single target structure, or optimize the processing paths to one of the equivalent target-structures in the set. In the latter case, the algorithm learns during processing to simultaneously identify the best reachable target structure and the optimal path to it. The proposed methods belong to the family of model-free deep reinforcement learning algorithms. They are guided by structure representations as features of the process state and by a reward signal, which is formulated based on a distance function in the structure space. Model-free reinforcement learning algorithms learn through trial and error while interacting with the process. Thereby, they are not restricted to information from a priori sampled processing data and are able to adapt to the specific process. The optimization itself is model-free and does not require any prior knowledge about the process itself. We instantiate and evaluate the proposed methods by optimizing paths of a generic metal forming process. We show the ability of both methods to find processing paths leading close to target structures and the ability of the extended method to identify target-structures that can be reached effectively and efficiently and to focus on these targets for sample efficient processing path optimization.
Deposition of dust with active substances in pesticides from treated seeds in adjacent fields during drilling: disentangling the effects of various factors using an 8-year field experiment
Authors: Krahner André , Heimbach Udo , Stähler Matthias , Bischoff Gabriela , Pistorius Jens 
Published: July 2021

AbstractThe side effects from the use of plant protection products and their potential effects on non-target arthropods (NTAs) such as honey bees, other insects within the vegetation layer and epigeic arthropods nowadays receive more attention. However, uncertainties about the factors driving the deposition of active substances (a.s.) into off-crop areas persist, in particular during sowing of treated seeds. Analysing a highly standardised 8-year field experiment, we assessed the importance of various factors potentially affecting dust drift and deposition of a.s., emitted during the sowing process of treated seeds and deposited on fields adjacent to the drilling field, i.e. on the ground, on flowers, and on nonflowering plant parts. Regarding a.s. deposition, the Heubach a.s. value has a predictive capability, which is independent from all other factors taken into account in this study, and can thus be considered as a scenario-independent measure of potential dust deposition. Petri dish samplers, an established standard method for measuring a.s. deposition, were representative of the results from the plant samplers for a given combination of drilling technique and adjacent crop type. Adjacent crop type is likely to impact on a.s. deposition. The present work will enable a more field-realistic exposure assessment for bees and other NTAs.
Von Performativität zu Generativität: Bewertung und ihre Folgen im Kontext der Digitalisierung
Authors: Mennicken Andrea , Kornberger Martin 
Published: July 2021

ZusammenfassungIn diesem Beitrag gehen wir zwei Fragen nach. Erstens, inwiefern kann ein Fokus auf Praktiken der Bewertung zur Klärung des Zusammenhangs zwischen Vergleich, Kategorisierung und Quantifizierung beitragen? Und zweitens, inwieweit verhilft er dazu, die Voraussetzungen und Folgen neuer digitaler Formate, wie etwa Vergleichsportale, Empfehlungssysteme oder Screening- und Scoring-Verfahren, besser zu verstehen? Im Gegensatz zur Auffassung, dass Wert im Bewusstsein des Subjekts (als Präferenz) existiert oder eine objektive Eigenschaft eines Gutes ist, argumentieren wir, dass ein Gut erst durch Bewertungspraktiken und -technologien wie Ratings, Rankings und andere evaluative Infrastrukturen als wertvoll oder als nicht wertvoll bestimmt wird. Wir entwickeln einen analytischen Rahmen für die Untersuchung interaktiver, digitalisierter Bewertungstechnologien und schlagen vor, dass sich solche Technologien besser analysieren und verstehen lassen, wenn wir den Fokus auf drei Elemente legen: erstens auf evaluative Infrastrukturen, verstanden als Bewertungsregime – und nicht als einzelne Bewertungsinstrumente, zweitens auf dasProtokollals ein evaluativen Infrastrukturen eigenes Machtinstrument, wobei Macht in diesem Fall paradoxerweise (und im Unterschied zum Disziplinarregime) zugleich verteilt und konzentriert ist, und drittens auf dasgenerative(statt nur performative) Potenzial solcher digitalisierter Bewertungsregime, also deren Fähigkeit, neue Werte und Kategorisierungen mittels evaluativer Infrastrukturen zu produzieren.
Learning from knowledge co-production research and practice in the twenty-first century: global lessons and what they mean for collaborative research in Nunatsiavut
Authors: Zurba Melanie , Petriello Michael A. , Madge Carly , McCarney Paul , Bishop Breanna , McBeth Samantha , Denniston Mary , Bodwitch Hekia , Bailey Megan 
Published: July 2021

AbstractAn increasing need for novel approaches to knowledge co-production that effectively and equitably address sustainability challenges has arisen in the twenty-first century. Calls for more representative and contextual co-production strategies have come from Indigenous communities, scientific research forums, and global environmental governance networks. Despite calls to action, there are no systematic reviews that derive lessons from knowledge co-production scholarship to interpret their significance through the lens of a specific sociopolitical and cultural context. We conducted a systematic review of peer-reviewed and grey literature on knowledge co-production published from 2000 to 2020. Using a hybrid inductive and deductive thematic analysis, we identified two conceptual themes—guiding principles and approaches—to structure the synthesis and interpretation of 102 studies. We found that knowledge co-production studies often converged on four interrelated principles: recognition of contextual diversity bounding knowledge co-production, preemptive and intentional engagement with Indigenous knowledge holders, formation of shared understanding of the purpose of knowledge co-production, and empowerment of knowledge holders throughout the co-production cycle. These principles manifested in multiple approaches for interpreting, bridging, applying, and distributing power amongst diverse knowledge systems rooted in different epistemologies. We filter these findings through the social–ecological context that frames an ongoing knowledge co-production project with Inuit communities in Nunatsiavut, Canada: theSustainable Nunatsiavut Futures Project. Our review suggests that emerging forms of knowledge co-production principles and approaches yield immense potential in diverse contexts. Yet in many regions, including Nunatsiavut, principles alone may not be enough to account for systemic and contextualized issues (e.g., colonisation and data sovereignty) that can present roadblocks to equitable sustainability science in the twenty-first century if left unaddressed.
Development of Low-Yield Stress Co–Cr–W–Ni Alloy by Adding 6 Mass Pct Mn for Balloon-Expandable Stents
Authors: Yanagihara Soh , Ueki Kosuke , Ueda Kyosuke , Nakai Masaaki , Nakano Takayoshi , Narushima Takayuki 
Published: July 2021

Abstract
This is the first report presenting the development of a Co–Cr–W–Ni–Mn alloy by adding 6 mass pct Mn to ASTM F90 Co–20Cr–15W–10Ni (CCWN, mass pct) alloy for use as balloon-expandable stents with an excellent balance of mechanical properties and corrosion resistance. The effects of Mn addition on the microstructures as well as the mechanical and corrosion properties were investigated after hot forging, solution treatment, swaging, and static recrystallization. The Mn-added alloy with a grain size of ~ 20 µm (recrystallization condition: 1523 K, 150 seconds) exhibited an ultimate tensile strength of 1131 MPa, 0.2 pct proof stress of 535 MPa, and plastic elongation of 66 pct. Additionally, it exhibited higher ductility and lower yield stress while maintaining high strength compared to the ASTM F90 CCWN alloy. The formation of intersecting stacking faults was suppressed by increasing the stacking fault energy (SFE) with Mn addition, resulting in a lower yield stress. The low-yield stress is effective in suppressing stent recoil. In addition, strain-induced martensitic transformation during plastic deformation was suppressed by increasing the SFE, thereby improving the ductility. The Mn-added alloys also exhibited good corrosion resistance, similar to the ASTM F90 CCWN alloy. Mn-added Co–Cr–W–Ni alloys are suitable for use as balloon-expandable stents.
Diachronic Tendency and Thinking Style Across the Broader Autism Spectrum: Sources of Individual Differences?
Authors: Orm Stian , Holmberg Ella Holt , Harris Paul L. , Nunez Maria , Pons Francisco 
Published: July 2021

AbstractObjectivesFirst, to see whether previous studies showing a limited capacity to spontaneously evoke the past and the future of a present moment (diachronic tendency) and a prevalence of mental images over inner speech (thinking style) in individuals with autism spectrum disorder could be replicated in individuals belonging to the broader autism phenotype. Second, to test the hypothesis that individuals thinking with mental images have a more limited diachronic tendency compared with individuals thinking with inner speech.MethodsAdults (N = 309, Mage = 31.5 years, 76% women) with at least a high school degree were assessed with the Autism Spectrum Quotient, a test of diachronic tendency comprising four pictures varying in social interactivity and dynamicity, and a thinking style scale comprising three items representing three different everyday situations.ResultsThe results showed that adults with many autistic traits have a limited diachronic tendency but only when the situation is socially interactive and dynamic, think more in mental images than individuals with no or few autistic traits but nevertheless still think more with inner speech than with mental images, and the more the participants reported thinking in inner speech, the more they evoked past and future events when describing a socially interactive and dynamic situation.ConclusionsMore autistic traits are associated with a limited diachronic tendency in socially interactive and dynamic situations and more thinking in mental images, and thinking style could be one of the determinants of diachronic tendency in socially interactive and dynamic situations.
Measuring business-level expectations and uncertainty: survey evidence and the COVID-19 pandemic
Authors: Chen Cheng , Senga Tatsuro , Zhang Hongyong 
Published: July 2021

AbstractUtilizing a unique firm-level survey in Japan that contains five-bin forecasts for sales, we document three findings. First, firm-level subjective uncertainty is highly and positively related to volatility of past firm growth. Second, there are substantial variations in subjective uncertainty across firms, with a long right tail with extremely high subjective uncertainty. In addition, firms that have exposure to international businesses either through international trade or foreign direct investment have both higher average expected sales and subjective uncertainty. Finally, the sudden escalation of the COVID-19 pandemic in January–February 2020 led to a substantial increase in firms’ subjective uncertainty. Our triple-difference estimation results show that this effect is especially large for firms that have direct exposure to China through international trade and foreign direct investment.
“Safe but Frozen Camps”: Syrian and Palestinian Refugees around a Football Field in Beirut
Authors: Fogliata Stefano 
Published: July 2021

AbstractPalestinian camps in Lebanon have turned once more into “transitional zones of emplacement” for thousands of people recently fleeing the Syrian conflict. In this context, the plural subjectivities emerging within the camps highlight a further connection between spatial marginalization and precarious legal statuses. My research hinges on the interconnectivities evolving around the Palestinian Bourj el Barajneh camp and Hezbollah-controlled Beirut southern suburbs moving from an ethnographic insight of the Palestinian football society. Inside the “Refugee Football Leagues,” Palestinians, Syrians and Lebanese players find a space in leagues whose matches are mostly disputed within the numerous refugee camps scattered throughout the national territory. Moving from newcomers’ strategies for protection, the essay investigates how refugees living in camps experience different scales of mobility and develop a wide range of practices that extend beyond the camp's boundaries, exploring how imperceptible and hyper-mobile tactics of existence re-elaborate Palestinian refugee camps into meaningful places of elusive contestation.
Improving perinatal sleep via a scalable cognitive behavioural intervention: findings from a randomised controlled trial from pregnancy to 2 years postpartum
Authors: Bei Bei , Pinnington Donna M. , Quin Nina , Shen Lin , Blumfield Michelle , Wiley Joshua F. , Drummond Sean P. A. , Newman Louise K. , Manber Rachel 
Published: July 2021

Abstract

Background
Sleep disturbance is common in gestational parents during pregnancy and postpartum periods. This study evaluated the feasibility and efficacy of a scalable cognitive behavioural therapy (CBT) sleep intervention tailored for these periods.

Methods
This is a two-arm, parallel-group, single-blind, superiority randomised controlled trial. Nulliparous females without severe medical/psychiatric conditions were randomised 1:1 to CBT or attention- and time-matched control. All participants received a 1 h telephone session and automated multimedia emails from the third trimester until 6 months postpartum. Outcomes were assessed with validated instruments at gestation weeks 30 (baseline) and 35 (pregnancy endpoint), and postpartum months 1.5, 3, 6 (postpartum endpoint), 12 and 24.

Results
In total, 163 eligible participants (age M ± s.d. = 33.35 ± 3.42) were randomised. The CBT intervention was well accepted, with no reported adverse effect. Intention-to-treat analyses showed that compared to control, receiving CBT was associated with lower insomnia severity and sleep disturbance (two primary outcomes), and lower sleep-related impairment at the pregnancy endpoint (p values ⩽ 0.001), as well as at 24 months postpartum (p ranges 0.012–0.052). Group differences across the first postpartum year were non-significant. Participants with elevated insomnia symptoms at baseline benefitted substantially more from CBT (v. control), including having significantly lower insomnia symptoms throughout the first postpartum year. Group differences in symptoms of depression or anxiety were non-significant.

Conclusions
A scalable CBT sleep intervention is efficacious in buffering against sleep disturbance during pregnancy and benefitted sleep at 2-year postpartum, especially for individuals with insomnia symptoms during pregnancy. The intervention holds promise for implementation into routine perinatal care.