bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate
Authors: Bajaj Shruti , Shah Piyush , Seenappa Venu , Kalyankar Jayashree , Hingwala Divyata 
Published: June 2021

AbstractWe reported a neonate presenting with muscle weakness, hypotonia, and joint contractures since birth. Investigations revealed significantly elevated creatinine-phosphokinase, abnormal electromyography suggestive of muscle disease and normal magnetic resonance imaging (MRI) of the brain. Exome sequencing revealed homozygous pathogenic mutations in LAMA2 (NM_000426.3: c.7881T > G, p.(His2627Gln)) and a heterozygous likely-pathogenic mutation in COL6A2 (NM_001849.3: c.1970–2A > G). Parental segregation by Sanger sequencing confirmed a heterozygous carrier state for the LAMA2 variant in both parents, thus confirming the diagnosis of autosomal recessive LAMA2-muscular dystrophy (LAMA2-MD) in the proband. The COL6A2 variant segregated with the as-yet asymptomatic mother. Musculoskeletal MRI of the proband at 12 months of age revealed peripheral involvement of the vastii, rectus femoris, gastrocnemius and the soleus, with relative central sparing, without areas of fatty infiltration; not serving to distinguish clearly between LAMA-MD and COL6A2- related disease. Reverse phenotyping of a 27-year-old mother revealed a normal musculoskeletal MRI and clinically absent red flags. Potential explanations for the heterozygous likely-pathogenic COL6A2 variant in the proband and the mother include (a) a coexisting diagnosis of autosomal dominant COL6A2-related myopathy, likely Bethlem myopathy, which has a variable clinical phenotype and age of onset; (b) a carrier state for autosomal recessive Ullrich congenital muscular dystrophy; or (c) a heterozygous COL6A2 variant contributing as a synergistic factor along with homozygous LAMA2 mutation. The couple was offered genetic counseling regarding the proband and the future pregnancies.
Factor XIII Deficiency and Intracranial Bleed: Surgical Management and Prophylaxis with Cryoprecipitate
Authors: Furtado Sunil V. , Hegde Pranoy , Palassery Rasmi , Karunakara B. P. 
Published: June 2021

AbstractFactor XIII (FXIII) deficiency is a rare bleeding disorder with affected patients having high propensity for intracranial hemorrhage. A 12-year-old girl presented with severe headache, limb weakness, and rapidly worsening sensorium over 4 days. Magnetic resonance imaging of the brain and computed tomography (CT) of the head showed intraparenchymal bleed. Patient had normal coagulation profile and abnormal FXIII level. The perioperative management included cryoprecipitate transfusion to bring the FXIII value to 74%. She underwent craniotomy and evacuation of the hematoma. Postoperatively, she received prophylaxis against rebleed with cryoprecipitate. In the absence of FXIII concentrate, correction of FXIII deficiency is possible with cryoprecipitate in emergent situations.
Redefining Esthetics: The Implant Way
Authors: Sharma Prabal , Sharma Bhumika , Makkar Sumit , Kalra Sandeep 
Published: June 2021

AbstractAlteration in conventional techniques in anterior maxilla is essential for making a restoration look more natural and harmonious with the rest of the mouth, as this area is more prone to aesthetic failure. The visibility of anterior crowns is obviously more, making it necessary for a restoration to blend with the natural dentition. This makes a person’s smile more pleasant and aesthetic. Proper risk assessment must be considered while placing implants in anterior maxillary region as any deficiency in bone and soft tissue could compromise the aesthetics as well as overall success of a dental implant restoration. Timing of implant placement also plays a crucial role in providing aesthetic success in this region. This article presents a case where implant placement is done, enhancing the aesthetics as well as function in the anterior maxillary region.
Insect Knowledges, Power, and the Literary
Authors: Allewaert Monique 
Published: June 2021

Abstract
In this prolegomenon to my book in progress, I posit insects as an especially apposite focal point through which to investigate the constellation of European, Indigenous, and Afro-diasporic knowledges about West Indian nature. I also delineate how this focus on insects allows us to think anew long-standing literary critical problems of setting, semiotics, and figuration.
Association between RsFT, RsFLC and RsCOL5 (A&B) expression and flowering regulation in Japanese wild radish
Authors: Han Qingxiang , Sakaguchi Shota , Wakabayashi Tomomi , Setoguchi Hiroaki 
Published: June 2021

Abstract
Flowering is an important step in the life cycle of plants and indicates adaptability to external climatic cues such as temperature and photoperiod. We investigated the expression patterns of core genes related to flowering-time regulation in Japanese wild radish (Raphanus sativus var. raphanistroides) with different vernalization requirements (obligate and facultative) and further identified climatic cues that may act as natural selective forces. Specifically, we analysed flowering-time variation under different cold and photoperiod treatments in Japanese wild radish collected from the Hokkaido (northern lineage) and Okinawa (southern lineage) islands, which experience contrasting climatic cues. The cultivation experiment verified the obligate and facultative vernalization requirements of the northern and southern wild radish accessions, respectively. The expression of major genes involved in flowering time indicated that RsFLC and RsCOL5 (A&B) may interact to regulate flowering time. Notably, floral initiation in the northern lineage was strongly correlated with RsFLC expression, whereas flowering in the southern linage was correlated with induction of RsCOL5-A expression, despite high RsFLC transcript levels. These results suggested that the northern accessions are more sensitive to prolonged cold exposure, whereas the southern accessions are more sensitive to photoperiod. These different mechanisms ultimately confer an optimal flowering time in natural populations in response to locally contrasting climatic cues. This study provides new insights into the variant mechanisms underlying floral pathways in Japanese wild radish from different geographic locations.
Trauma-informed Family Contact Practice for Children in Out-of-home Care
Authors: Collings Susan , Wright Amy Conley , McLean Loyola , Buratti Sue 
Published: June 2021

Abstract
Trauma knowledge and skills are needed to support relational safety for children in out-of-home care and birth family contact is a particular area where trauma-informed approaches are critical. Mixed methods were used to understand the application of trauma-informed approaches to contact in New South Wales, Australia. A total of 118 caseworkers and 15 organisational leaders took part in an anonymous survey or semi-structured interview. Descriptive statistics and thematic analysis were completed. Results indicated that caseworkers were confident in their knowledge of trauma and ability to protect children at contact but not to explain trauma to carers or manage conflict between carers and birth relatives. Confusion about how to deliver trauma-informed practice hampered knowledge-to-practice translation. Staff training and supervision were used to build workforce skills but were not evaluated and no strategies to reduce vicarious trauma were identified. Strategies to promote psychological safety and improve cultural safety for Aboriginal children and families were in their infancy. The study demonstrates that the out-of-home-care sector needs a community of practice where it can test, implement and share promising strategies for improving relational safety and where adult and child trauma survivors are empowered to inform and lead new approaches to contact.
Differential Role for Hippocampal Subfields in Alzheimer’s Disease Progression Revealed with Deep Learning
Authors: Kwak Kichang , Niethammer Marc , Giovanello Kelly S , Styner Martin , Dayan Eran ,   for the Alzheimer's Disease Neuroimaging Initiative
Published: June 2021

AbstractMild cognitive impairment (MCI) is often considered the precursor of Alzheimer’s disease. However, MCI is associated with substantially variable progression rates, which are not well understood. Attempts to identify the mechanisms that underlie MCI progression have often focused on the hippocampus but have mostly overlooked its intricate structure and subdivisions. Here, we utilized deep learning to delineate the contribution of hippocampal subfields to MCI progression. We propose a dense convolutional neural network architecture that differentiates stable and progressive MCI based on hippocampal morphometry with an accuracy of 75.85%. A novel implementation of occlusion analysis revealed marked differences in the contribution of hippocampal subfields to the performance of the model, with presubiculum, CA1, subiculum, and molecular layer showing the most central role. Moreover, the analysis reveals that 10.5% of the volume of the hippocampus was redundant in the differentiation between stable and progressive MCI.
Acoustic and visual adaptations to predation risk: a predator affects communication in vocal female fish
Authors: Maiditsch Isabelle Pia , Ladich Friedrich 
Published: June 2021

AbstractPredation is an important ecological constraint that influences communication in animals. Fish respond to predators by adjusting their visual signaling behavior, but the responses in calling behavior in the presence of a visually detected predator are largely unknown. We hypothesize that fish will reduce visual and acoustic signaling including sound levels and avoid escalating fights in the presence of a predator. To test this we investigated dyadic contests in female croaking gouramis (Trichopsis vittata, Osphronemidae) in the presence and absence of a predator (Astronotus ocellatus, Cichlidae) in an adjoining tank. Agonistic behavior in T. vittata consists of lateral (visual) displays, antiparallel circling, and production of croaking sounds and may escalate to frontal displays. We analyzed the number and duration of lateral display bouts, the number, duration, sound pressure level, and dominant frequency of croaking sounds as well as contest outcomes. The number and duration of lateral displays decreased significantly in predator when compared with no-predator trials. Total number of sounds per contest dropped in parallel but no significant changes were observed in sound characteristics. In the presence of a predator, dyadic contests were decided or terminated during lateral displays and never escalated to frontal displays. The gouramis showed approaching behavior toward the predator between lateral displays. This is the first study supporting the hypothesis that predators reduce visual and acoustic signaling in a vocal fish. Sound properties, in contrast, did not change. Decreased signaling and the lack of escalating contests reduce the fish’s conspicuousness and thus predation threat.
What factors promote vaccine hesitancy or acceptance during pandemics? A systematic review and thematic analysis
Authors: Truong Judy , Bakshi Simran , Wasim Aghna , Ahmad Mobeen , Majid Umair 
Published: June 2021

Summary
Examine the factors that promote vaccine hesitancy or acceptance during pandemics, major epidemics and global outbreaks. A systematic review and thematic analysis of 28 studies on the Influenza A/H1N1 pandemic and the global spread of Ebola Virus Disease. We found seven major factors that promote vaccine hesitancy or acceptance: demographic factors influencing vaccination (ethnicity, age, sex, pregnancy, education, and employment), accessibility and cost, personal responsibility and risk perceptions, precautionary measures taken based on the decision to vaccinate, trust in health authorities and vaccines, the safety and efficacy of a new vaccine, and lack of information or vaccine misinformation. An understanding of participant experiences and perspectives toward vaccines from previous pandemics will greatly inform the development of strategies to address the present situation with the COVID-19 pandemic. We discuss the impact vaccine hesitancy might have for the introduction and effectiveness of a potential COVID-19 vaccine. In particular, we believe that skepticism toward vaccines can still exist when there are no vaccines available, which is contrary to contemporary conceptualizations of vaccine hesitancy. We recommend conducting further research assessing the relationship between the accessibility and cost of vaccines, and vaccine hesitancy.
Early Convalescent Plasma Therapy and Mortality Among US Veterans Hospitalized With Nonsevere COVID-19: An Observational Analysis Emulating a Target Trial
Authors: Cho Kelly , Keithly Sarah C , Kurgansky Katherine E , Madenci Arin L , Gerlovin Hanna , Marucci-Wellman Helen , Doubleday Annie , Thomas Eva R , Park Yojin , Ho Yuk-Lam , Sugimoto Jonathan D , Moore Kathryn P , Peterson Alexander C , Hoag Constance , Gupta Kalpana , Jeans Karen , Klote Molly , Ramoni Rachel , Huang Grant D , Casas Juan P , Gagnon David R , Hernán Miguel A , Smith Nicholas L , Gaziano J Michael 
Published: June 2021

AbstractBackgroundEarly convalescent plasma transfusion may reduce mortality in patients with nonsevere coronavirus disease 2019 (COVID-19).MethodsThis study emulates a (hypothetical) target trial using observational data from a cohort of US veterans admitted to a Department of Veterans Affairs (VA) facility between 1 May and 17 November 2020 with nonsevere COVID-19. The intervention was convalescent plasma initiated within 2 days of eligibility. Thirty-day mortality was compared using cumulative incidence curves, risk differences, and hazard ratios estimated from pooled logistic models with inverse probability weighting to adjust for confounding.ResultsOf 11 269 eligible person-trials contributed by 4755 patients, 402 trials were assigned to the convalescent plasma group. Forty and 671 deaths occurred within the plasma and nonplasma groups, respectively. The estimated 30-day mortality risk was 6.5% (95% confidence interval [CI], 4.0%–9.7%) in the plasma group and 6.2% (95% CI, 5.6%–7.0%) in the nonplasma group. The associated risk difference was 0.30% (95% CI, −2.30% to 3.60%) and the hazard ratio was 1.04 (95% CI, .64–1.62).ConclusionsOur target trial emulation estimated no meaningful differences in 30-day mortality between nonsevere COVID-19 patients treated and untreated with convalescent plasma.Clinical Trials Registration. NCT04545047.
Beyond India and China: Bhutan as a Small State in International Relations
Authors: Kaul Nitasha 
Published: June 2021

AbstractThis article makes a novel contribution to the literature on Bhutan’s International Relations (IR) by shifting the focus away from an exclusively India–China framing. First, it points out how small states are increasingly salient but under-studied in IR and how non-European non-island states like Bhutan are even more so, and why we gain by addressing this. Second, it shows how the conventional study of Bhutan has solely focused on its friendship with India and the threat to it/this from China, and why it is important that these conventional narratives be critically examined. In doing so, we perceive the endogenous drivers of Bhutan’s foreign policies, for instance via Bhutan’s stance on the Doklam issue. Third, going beyond the three typical determinants (economic factors, bilateral relations with India, and threats from China), the article provides two additional axes of understanding Bhutan’s foreign policies – bridging of attributional distances and learning from experience.
BCS Partner: Fujitsu maintaining corporate culture in a fast-changing world
Authors: Davis Andrew , Hart Sarah 
Published: June 2021

Abstract
As COVID-19 hit, Fujitsu embraced the opportunity of lockdown with characteristic positivity, showing its human-centric nature by putting people at the centre of it all. Andrew Davis, Head of Future Workplace Strategy and Growth and Sarah Hart, Wellbeing Lead at Fujitsu Global Delivery, explain how the organisation did it.
Starting your future career in IT
Authors: Melsom Blair 
Published: June 2021

Abstract
Zoe Spilberg and Stephen Tweed from BCS are joined by guests Anne Marie Imafidon MBE, Kolawole Ojo, Richard Amafonye FBCS and Adesina Simon Sodiya FNCS to discuss the BCS HEQ pathway, its impact in Nigeria and the burgeoning opportunity for careers in IT. Blair Melsom MBCS reports.
Exosomal MicroRNA-21 Promotes Keloid Fibroblast Proliferation and Collagen Production by Inhibiting Smad7
Authors: Li Qijie , Fang Lu , Chen Junjie , Zhou Siqi , Zhou Kai , Cheng Fengrui , Cen Ying , Qing Yong , Wu Junliang 
Published: June 2021

Abstract
In keloid fibroblasts, microRNA-21 (miR-21) enhances activation of the TGF-β–Smad signaling pathway by down-regulating Smad7 expression, thereby promoting keloid fibroblast proliferation and collagen production. However, it is unclear whether miR-21 performs the above-mentioned functions through exosomal transport. Here, we extracted exosomes from the culture supernatants of keloid and normal skin fibroblasts and observed that both types of cells above secrete exosomes; however, keloid fibroblasts secreted significantly more exosomal miR-21 than normal skin fibroblasts (P &lt; .001). Interestingly, we also observed that exosomal miR-21 could enter target keloid fibroblasts. In addition, inhibiting exosomal miR-21 up-regulated Smad7 protein expression and reduced Smad2 and Smad3 protein levels in target keloid fibroblasts. Furthermore, inhibiting exosomal miR-21 down-regulated collagen I and collagen III expression in target keloid fibroblasts, increased the proportion of apoptotic cells, and reduced cell proliferation. Taken together, these results show that exosomal miR-21 promoted proliferation and collagen production in keloid fibroblasts by inhibiting Smad7. Thus, we identified regulatory roles for miR-21 in promoting keloid fibroblast proliferation and participating in keloid formation and development. These findings imply that miR-21 may serve as a novel target for controlling the development of keloids.
Friends of the Earth: ‘Government Policy’, Relevant Considerations and Human Rights
Authors: Martin Stevie 
Published: June 2021

Abstract
Litigation involving climate change is on the increase both domestically and internationally and the Supreme Court's judgment in Friends of the Earth Ltd joins that list. While it was not as directly concerned with the implications of climate change as, perhaps, recent case law from the Netherlands or Australia, the case has significant implications including in terms of future litigation involving human rights challenges based on climate change. Three aspects of the judgment in particular warrant consideration. First, the legitimacy of the Court's purposive interpretation of the meaning of ‘Government policy’. Second, the Supreme Court left unanswered the question of whether the Paris Agreement was so ‘obviously material’ to the exercise of the relevant discretion that a failure to have regard to it would be Wednesbury unreasonable. Finally, the Supreme Court rejected the claim that designating the Airports National Policy Statement would interfere with any rights contained in the European Convention of Human Rights. This case analysis examines each of these aspects of the judgment.
A strongly complete axiomatization of intuitionistic temporal logic
Authors: Chopoghloo Somayeh , Moniri Morteza 
Published: June 2021

Abstract
In this paper, we consider the logic ${\textsf{ITL}}^{e}$, a variant of intuitionistic linear temporal logic that is interpreted over the class of dynamic Kripke frames. These are bi-relational structures of the form $ \langle{W, \preccurlyeq , f}\rangle $ where $\preccurlyeq $ is a partial order on $W$ and $f: W \to W$ is a $\preccurlyeq $-monotone function. Our main result answers a question recently raised by Boudou et al. (2017, A decidable intuitionistic temporal logic. In Computer Science Logic 2017, pp. 14:1–14:17. Vol. 82 of LIPIcs) about axiomatizing this logic. We provide an axiomatization of ${\textsf{ITL}}^{e}$ and prove its strong completeness with respect to the class of all dynamic Kripke frames. The proposed axiomatization is infinitary; it has two derivation rules with countably many premises and one conclusion. It should be mentioned that ${\textsf{ITL}}^{e}$ is semantically non-compact, so no finitary proof system for this logic could be strongly complete.
ASASSN-14lp: two possible solutions for the observed ultraviolet suppression
Authors: Barna Barnabas , Pereira Talytha , Taubenberger Stefan , Magee Mark , Kromer Markus , Kerzendorf Wolfgang , Vogl Christian , Williamson Marc E , Flörs Andreas , Noebauer Ulrich M , Foley Ryan J , Sasdelli Michele , Hillebrandt Wolfgang 
Published: June 2021

ABSTRACT
We test the adequacy of ultraviolet (UV) spectra for characterizing the outer structure of Type Ia supernova (SN) ejecta. For this purpose, we perform spectroscopic analysis for ASASSN-14lp, a normal SN Ia showing low continuum in the mid-UV regime. To explain the strong UV suppression, two possible origins have been investigated by mapping the chemical profiles over a significant part of their ejecta. We fit the spectral time series with mid-UV coverage obtained before and around maximum light by HST, supplemented with ground-based optical observations for the earliest epochs. The synthetic spectra are calculated with the one-dimensional MC radiative transfer code tardis from self-consistent ejecta models. Among several physical parameters, we constrain the abundance profiles of nine chemical elements. We find that a distribution of 56Ni (and other iron-group elements) that extends towards the highest velocities reproduces the observed UV flux well. The presence of radioactive material in the outer layers of the ejecta, if confirmed, implies strong constraints on the possible explosion scenarios. We investigate the impact of the inferred 56Ni distribution on the early light curves with the radiative transfer code turtls, and confront the results with the observed light curves of ASASSN-14lp. The inferred abundances are not in conflict with the observed photometry. We also test whether the UV suppression can be reproduced if the radiation at the photosphere is significantly lower in the UV regime than the pure Planck function. In this case, solar metallicity might be sufficient enough at the highest velocities to reproduce the UV suppression.