bluuebunny/crossref_metadata_2025 huggingface dataset:
Care As Belonging, Difference, and Inequality
Authors: Thelen Tatjana
Published: May 2021

The topic of care has inspired a vast and complex body of research covering a wide range of practices. As an open-ended process, it is generally directed at fulfilling recognized needs and involves at least one giving and one receiving side. Although care has mostly positive connotations in everyday usage, giving or receiving it can also be a negative experience or express domination.

Care evolves through complex arrangements of different actors, institutions, and technical devices and at the same time transforms them. As human needs are not a given, the process of care involves negotiations about who deserves to receive it and on what grounds, as well as who should provide it. Because care is so deeply implicated in articulating and mediating different moralities, it becomes central to constructions and classifications of difference. In this way, care extends far beyond intimate relations and is engrained in processes that establish belonging as well as various forms of inequality. Researching care in intimate settings as well as in public sectors enables bridging various communities of care and grasping how the distribution of care not only mirrors inequalities but contributes to their (re)production or even intensification.
From Manuscript to Print in South and Southeast Asia
Authors: Emmrich Christoph
Published: May 2021

The historical shift from manuscript to print is only one aspect of the relationship between the two media, yet it has attracted the most attention. Influential media historiographies have either stressed or downplayed the degrees to which this particular change impacted textual practice in Asia. Playing one medium against the other, however, hinders our understanding of how print and manuscript have been shaping each other since the emergence of Buddhism. A broadened understanding of print that comprises early dhāraṇī estampage and later Chinese and Tibetan block prints, as well as the European printing press, shows that technological innovations in the reproduction, preservation, and distribution of writing spread out of and moved back into parts of South and Southeast Asia, recurring in multiple waves and in diverse forms, with differing local solutions defying attempts at a comprehensive media-centric periodization. Clay as the earliest preserved medium for the printed reproduction of Buddhist texts was replaced by paper as South Asian Buddhism spread northwest into Central and East Asia, impacting script cultures in Vietnam and Tibet and facilitating a division of labor which ensured that prints resembled manuscripts and manuscript came to dominate entire genres and social niches in the economy of the book. In the southern Himalayas, Tibetan block print and South Asian manuscript culture intermingled freely, even after the introduction of the European printing press, with Western print in isolated but striking cases upholding the prestige and supporting the ongoing reproduction of manuscripts. Similarly, in Sri Lanka and Thailand it was the colonial impact of print that led to a retooling and reevaluation of manuscripts as the key commodity through which to justify publishing and archiving efforts at the service of the project to build the nation-state, leading to the emergence of a new genre in South Asia, the library catalogue. Burma and Cambodia, with their interrupted trajectories toward Buddhist nationhood, saw interplay between manuscript, print, and epigraphy, in one case, and the detachment from the larger Thai manuscript lineage by the creation of a new mixed manuscript and print tradition in the other. More recent Buddhist traditions never experienced any of the passages from manuscript to print, emerging in a textual environment entirely constituted by the European printing press. Yet, in this and in the general contemporary Buddhist environment too, the manuscript persists in novel forms, either as a preliminary stage in the ontogenesis of any published or unpublished material or in the myriad instances in which jotting down on slips of paper contributes to the organization of the Buddhist everyday.
Domestic Dharma in Japan
Authors: Arai Paula
Published: May 2021

The domestic dimensions of Buddhist practice are a robust and ubiquitous stream, though they have not received much scholarly attention. The category of “domestic Dharma” is a conceptual lens that focuses on everyday lived phenomenon in order for scholars to see Buddhist activity occurring in the privacy of people’s homes. Accessing and understanding the contours of such activities largely depends on ethnographic research. The core dynamics of domestic Dharma engage a field of practices, including ritualization of daily life, mothering as locus of transmission of teachings and practices, rites and objects for protection, healing activities, and interplay with ancestors. Domestic Dharma practices fall under five broad overlapping modes of religious activity: ritualized, scriptural, communicative, materially interactive, and aesthetic. Domestic Dharma practices support people in facing infertility, crippling chronic pain, death through disease, untimely loss of family members, experiencing equanimity, cultivating harmonious relationships, and creating beauty in daily life. Such activities do not fit neatly into abstract categories and institutional frames, for they are complex, concrete, and ever-changing. Women propel domestic Dharma by tending to the physical, emotional, and spiritual needs of themselves and their families. A family’s homemade ritualized activities are efficacious, because they emerge out of immediate situations, idiosyncratic habits, and preferred aesthetics. Domestic Dharma is a vital sphere of harmonious, resilient responses to the vicissitudes of life in which respect, responsibility, and gratitude are cultivated.
Central America in the 17th Century
Authors: Madrigal Eduardo
Published: May 2021

When the 16th century—the Conquest Century—drew to a close, the territory of what is today called Central America was already organized as a colonial domain. The system of “Two Republics”—segregating autochthonous populations from the Spanish in order to protect the former from the abuses and potential perversions of the latter, but also to better control the former and demand labor, goods, and money from them—was well established, and colonial institutions (Audiencia, royal treasury offices, town councils (cabildos), dioceses, parishes, etc.) had been put in place. The Spanish governing and enriched elite were clearly on top but were surrounded, nonetheless, by a plethora of dominated ethnic groups, such as the indigenous and the African—either slave or free—populations, the non-elite Spanish immigrants, and those of mixed race. The process of miscegenation between all ethnic groups of colonial society, slow and faltering at first, was already a fact in the region, and a caste society was firmly established. At the same time, Spanish settlement in the territory was entrenched, with consolidated cities and established rural properties. Trade and mining were also active, creating economic cycles linked to the global economy, as well as to internal markets. However, resistance and rebellions by the dominated populations and an extended frontier—made of unconquered and uncontrolled zones—as well as the irruption of enemies in the uncontrolled regions, were not absent from the region. What was the destiny of this complex newly born society over the century to come? In Central America, the new century would be characterized by processes of stabilization and consolidation of colonial life in all aspects, but also by strong geostrategical interests, brutal social asymmetries, and an overwhelming peripheral status.
Economics of Climate Change Adaptation
Authors: Abidoye Babatunde O.
Published: May 2021

To view climate change adaptation from an economic perspective requires a definition of adaptation, an economic framework in which to view adaptation, and a review of the literature on specific adaptations (especially in agriculture). A focus on tools for applying adaptation to developing countries highlights the difference between mitigation and the adaptation decision-making process. Mitigation decisions take a long-term perspective because carbon dioxide lasts for a very long time in the atmosphere. Adaptation decisions typically last the lifespan of the investments, so the time frame depends on the specific adaptation investment, but it is invariably short compared to mitigation choices, which have implications for centuries. The short time frame means that adaptation decisions are not plagued by the same uncertainty that plagues mitigation choices. Finally, most adaptation decisions are local and private, whereas mitigation is a global public decision. Private adaptation will occur even without large government programs. Public adaptations that require government assistance can mainly be made by existing government agencies. Adaptation does not require a global agreement.
Environmental Accounting and the Management Challenge
Authors: Burritt Roger L. , Schaltegger Stefan , Christ Katherine L.
Published: May 2021

There is a need to achieve sustainability through development of economies and companies that operate in the safe operating space of planetary boundaries and contribute to achieving the United Nations Sustainable Development Goals. This requires that decision makers are informed about the state of the natural environment, the environmental impacts being caused, and the effectiveness of improvement measures. Environmental accounting focuses on such environmental issues. It informs decision makers about combined environmental and economic matters and supports improvement processes. Environmental accounts at the national and regional macro level are mostly focused on the environmental condition and changes in condition over time. In contrast, company environmental accounting at the micro level either focuses on reporting on the overall impact in the past, providing detailed internal information for managers to address key problem areas, or identifying aspects for improvement. Transdisciplinary research helps to address the economic and management challenge of linking company-related micro level accounts and activities with macro level environmental objectives.
Feldman, Frances Lomas
Authors: Logan Sadye L. M.
Published: May 2021

Frances Lomas Feldman (1912–2008), Professor Emerita at University of Southern California (USC) School of Social Work, was an indomitable force in the social work profession. Her primary research focus was the social and psychological meanings of work and money in American life. She will be remembered for her compassion and for establishing a standard of best practice to families that protected their dignity and supported their inner strengths when seeking aid.
Reinherz, Helen Zarsky
Authors: Logan Sadye L. M.
Published: May 2021

Helen Zarsky Reinherz (1923–2017), Professor at Simmons College, was a social work pioneer known for her independence, work ethic, and intellect. She was considered a pioneer in the field of social work during her 43-year career as a beloved professor and faculty member at Simmons College. But it is her work as the principal investigator on the groundbreaking Simmons Longitudinal Study focusing on preschool children and adolescents that was considered her most impactful contribution to the field of social work.
Rockmore, John Myron
Authors: Logan Sadye L. M.
Published: May 2021

John Myron Rockmore (1913–2002) had an outstanding career in which he developed and expanded psychiatric social work practice as an essential component of World War II and post-World War II mental health programs. He was a strong advocate for a strong social work presence in the Connecticut mental health department.
Exploring parallel MPI fault tolerance mechanisms for phylogenetic inference with RAxML-NG
Authors: Hübner Lukas , Kozlov Alexey M , Hespe Demian , Sanders Peter , Stamatakis Alexandros
Published: May 2021

Motivation

Phylogenetic trees are now routinely inferred on large scale high performance computing systems with thousands of cores as the parallel scalability of phylogenetic inference tools has improved over the past years to cope with the molecular data avalanche. Thus, the parallel fault tolerance of phylogenetic inference tools has become a relevant challenge. To this end, we explore parallel fault tolerance mechanisms and algorithms, the software modifications required and the performance penalties induced via enabling parallel fault tolerance by example of RAxML-NG, the successor of the widely used RAxML tool for maximum likelihood-based phylogenetic tree inference.

Results

We find that the slowdown induced by the necessary additional recovery mechanisms in RAxML-NG is on average 1.00 ± 0.04. The overall slowdown by using these recovery mechanisms in conjunction with a fault-tolerant Message Passing Interface implementation amounts to on average 1.7 ± 0.6 for large empirical datasets. Via failure simulations, we show that RAxML-NG can successfully recover from multiple simultaneous failures, subsequent failures, failures during recovery and failures during checkpointing. Recoveries are automatic and transparent to the user.

Availability and implementation

The modified fault-tolerant RAxML-NG code is available under GNU GPL at https://github.com/lukashuebner/ft-raxml-ng.

Supplementary information

Supplementary data are available at Bioinformatics online.
Tfcancer: a manually curated database of transcription factors associated with human cancers
Authors: Huang Qingqing , Tan Zhengtang , Li Yanjing , Wang Wenzhu , Lang Mei , Li Changying , Guo Zhiyun
Published: May 2021

Transcription factors (TFs) are critical regulation elements and its dysregulation can lead to a variety of cancers. However, currently, there are no such online resources for large-scale collection, storage and analysis of TF-cancer associations in those cancers. To fill this gap, we present a database called TFcancer (http://lcbb.swjtu.edu.cn/tfcancer/), which contains 3136 experimentally supported associations between 364 TFs and 33 TCGA cancers by manually curating more than 1800 literature. TFcancer mainly concentrates on four aspects: TF expression, molecular alteration, regulatory relationships between TFs and target genes, and biological processes and signaling pathways of TFs in cancers. TFcancer not only provides a user-friendly interface for browsing and searching but also allows flexible data downloading and user data submitting. It is believed that TFcancer is a helpful and valuable resource for researchers who seek to understand the functions and molecular mechanisms of TFs involved in human cancers.

Availability and implementation

The TFcancer are freely available at http://lcbb.swjtu.edu.cn/tfcancer/.

Supplementary information

Supplementary data are available at Bioinformatics online.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Authors: Schneeberger Pauline E , Nampoothiri Sheela , Holling Tess , Yesodharan Dhanya , Alawi Malik , Knisely A S , Müller Thomas , Plecko Barbara , Janecke Andreas R , Kutsche Kerstin
Published: May 2021

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the three subunits VPS51, VPS52 and VPS53, while VPS50 is unique to EARP and VPS54 to GARP. Retrograde transport of endosomal cargos to the trans-Golgi network is mediated by GARP and endocytic recycling by EARP.

Here we report two unrelated individuals with homozygous variants in VPS50, a splice variant (c.1978-1G>T) and an in-frame deletion (p.Thr608del). Both patients had severe developmental delay, postnatal microcephaly, corpus callosum hypoplasia, seizures and irritability, transient neonatal cholestasis and failure to thrive. Light and transmission electron microscopy of liver from one revealed the absence of gamma-glutamyltransferase at bile canaliculi, with mislocalization to basolateral membranes and abnormal tight junctions. Using patient-derived fibroblasts, we identified reduced VPS50 protein accompanied by reduced levels of VPS52 and VPS53. While the transferrin receptor internalization rate was normal in cells of both patients, recycling of the receptor to the plasma membrane was significantly delayed.

These data underscore the importance of VPS50 and/or the EARP complex in endocytic recycling and suggest an additional function in establishing cell polarity and trafficking between basolateral and apical membranes in hepatocytes. Individuals with biallelic hypomorphic variants in VPS50, VPS51 or VPS53 show an overarching neurodegenerative disorder with severe developmental delay, intellectual disability, microcephaly, early-onset epilepsy and variable atrophy of the cerebellum, cerebrum and/or brainstem. The term ‘GARP/EARP deficiency’ designates disorders in such individuals.
Ocean warming impairs the predator avoidance behaviour of elasmobranch embryos
Authors: Ripley Daniel M , De Giorgio Sara , Gaffney Kirstin , Thomas Lowri , Shiels Holly A
Published: May 2021

Embryogenesis is a vulnerable stage in elasmobranch development due in part to high predation mortality. Embryonic elasmobranchs respond to potential predators by displaying a freezing behaviour, characterized by the cessation of pharyngeal respiration followed immediately by coiling of the tail around the body. We hypothesized that the duration of this freeze response is limited by the embryo’s requirement for oxygen. Here, Scyliorhinus canicula embryos were incubated at either 15°C or 20°C during embryogenesis and tested for the duration of, and metabolic consequence of, the freeze response at their respective incubation temperature. Freeze response duration was negatively impacted by routine metabolic rate; embryos at 20°C had 7-fold shorter freeze duration than those at 15°C, potentially increasing their susceptibility to predation. These data demonstrate the capacity for climate change stressors to affect animal behaviour and suggest that this may occur by eliciting changes in the organism’s metabolism. We suggest altered predator avoidance behaviour is a new factor to consider when assessing the impact of climate change on the conservation and management of oviparous elasmobranch species.
Termite Presence and Feeding on Loblolly Pine Wood Differs Among Four Root-Infecting Bluestain (ophiostomatoid) Fungal Species
Authors: Clay Natalie A , Siegert Courtney , Tang Juliet D , Little Nathan S , Eckhardt Lori G , Riggins John J
Published: May 2021

Bark beetles and root weevils can impact forests through tree death on landscape scales. Recently, subterranean termites have been linked to these beetles via the presence of bluestain fungi (Ascomycota: Ophiostomataceae), which are vectored to trees by beetles. However, only a small subset of bluestain species have been examined. Here, we tested whether termite-bluestain association patterns in the field reflect termite feeding preference in laboratory choice trials. We documented the presence of four bluestain fungi (Leptographium procerum (W.B. Kendr.), L. terebrantis (Barras & Perry), Grosmannia huntii (Rob.-Jeffr.), and G. alacris (T.A. Duong, Z.W. de Beer & M.J. Wingf.) in the roots of 2,350 loblolly pine trees in the southeastern United States and whether termites were present or absent on these roots and paired this with laboratory choice feeding trials. Termites were found 2.5-fold on tree roots with at least one bluestain fungus present than tree roots without bluestain fungi. Although termites in this study and others were associated with L. procerum, L. terebrantis, and marginally G. huntii, termites only showed preferential feeding on wood inoculated with G. huntii in laboratory trials. This suggests that increased termite presence on wood with bluestain fungi may be driven by factors other than increased wood palatability. Termites could thus disproportionately affect wood turnover rates for specific pools (e.g., bark beetle and root weevil attacked trees) and in some cases (e.g., G. huntii) accelerate wood decomposition. This study supports the growing evidence that the association between subterranean termites and bluestain fungi is spatially and taxonomically widespread.
Clinical intra-cardiac 4D flow CMR: acquisition, analysis, and clinical applications
Authors: Demirkiran Ahmet , van Ooij Pim , Westenberg Jos J M , Hofman Mark B M , van Assen Hans C , Schoonmade Linda J , Asim Usman , Blanken Carmen P S , Nederveen Aart J , van Rossum Albert C , Götte Marco J W
Published: May 2021

Identification of flow patterns within the heart has long been recognized as a potential contribution to the understanding of physiological and pathophysiological processes of cardiovascular diseases. Although the pulsatile flow itself is multi-dimensional and multi-directional, current available non-invasive imaging modalities in clinical practice provide calculation of flow in only 1-direction and lack 3-dimensional volumetric velocity information. Four-dimensional flow cardiovascular magnetic resonance imaging (4D flow CMR) has emerged as a novel tool that enables comprehensive and critical assessment of flow through encoding velocity in all 3 directions in a volume of interest resolved over time. Following technical developments, 4D flow CMR is not only capable of visualization and quantification of conventional flow parameters such as mean/peak velocity and stroke volume but also provides new hemodynamic parameters such as kinetic energy. As a result, 4D flow CMR is being extensively exploited in clinical research aiming to improve understanding of the impact of cardiovascular disease on flow and vice versa. Of note, the analysis of 4D flow data is still complex and accurate analysis tools that deliver comparable quantification of 4D flow values are a necessity for a more widespread adoption in clinic. In this article, the acquisition and analysis processes are summarized and clinical applications of 4D flow CMR on the heart including conventional and novel hemodynamic parameters are discussed. Finally, clinical potential of other emerging intra-cardiac 4D flow imaging modalities is explored and a near-future perspective on 4D flow CMR is provided.
The questionable benefit of pectus excavatum repair on cardiopulmonary function: a prospective study
Authors: Del Frari Barbara , Blank Cornelia , Sigl Stephan , Schwabegger Anton H , Gassner Eva , Morawetz David , Schobersberger Wolfgang
Published: May 2021

OBJECTIVES

Since the introduction of the minimally invasive technique for repair of pectus excavatum (MIRPE), increasing numbers of patients are presenting for surgery. However, controversy remains regarding cardiopulmonary outcomes of surgical repair. Therefore, the aim of our prospective study was to investigate cardiopulmonary function, at rest and during exercise before surgery, first after MIRPE and then after pectus bar removal.

METHODS

Forty-seven patients were enrolled in a prospective, open-label, single-arm, single-centre clinical trial (Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Function) [NCT02163265] between July 2013 and November 2019. All patients underwent a modified MIRPE technique for surgical correction of pectus excavatum (PE), called Minor Open Videoendoscopically Assisted Repair of Pectus Excavatum. The patients underwent pre- and postoperative chest X-ray, three-dimensional volume-rendering computer tomography thorax imaging, cardiopulmonary function tests at rest and during stepwise cycle spiroergometry (sitting and supine position) and Doppler echocardiography. Daily physical activity questionnaires were also completed.

RESULTS

The study was completed by 19 patients (15 males, 4 females), aged 13.9–19.6 years at the time of surgery. The surgical patient follow-up was 5.7 ± 7.9 months after pectus bar removal. No significant differences in cardiopulmonary and exercise parameters were seen after placement of the intrathoracic bar, or after pectus bar removal, compared to presurgery.

CONCLUSIONS

Our findings indicate that surgical correction of PE does not impair cardiopulmonary function at rest or during exercise. Therefore, no adverse effects on exercise performance should be expected from surgical treatment of PE via the modified MIRPE technique.

Clinical trial registration number

clinicaltrials.gov [ClinicalTrials.gov number, NCT02163265].
Comparison of cardiovascular outcomes and cardiometabolic risk factors between patients with type 2 diabetes treated with sodium-glucose cotransporter-2 inhibitors and dipeptidyl peptidase-4 inhibitors: a meta-analysis
Authors: Wang Siwen , Wu Ting , Zuo Zhihong , Jin Ping , Luo Xuan , Deng Meichun
Published: May 2021

Aims 

Prevention of cardiovascular outcomes is a goal of the management of patients with type 2 diabetes mellitus patients as important as lowering blood glucose levels. Among the various glucose-lowering agents, the effects of sodium-glucose cotransporter-2 inhibitors (SGLT-2Is) and dipeptidyl peptidase-4 inhibitors (DPP-4Is) on cardiovascular outcomes have become the focus of recent researches.

Methods and results 

A systematic search was performed through several online database. All studies that compared the effects of SGLT-2Is and DPP-4Is on cardiovascular outcomes and cardiometabolic risk factors were reviewed. A total of 30 studies were included. Compared with DPP-4Is, SGLT-2Is treatment reduced the risk of stroke [risk ratio (RR) = 0.80; 95% confidence interval (CI), 0.76–0.84], myocardial infarction (RR = 0.85; 95% CI, 0.81–0.89), heart failure (RR = 0.58; 95% CI, 0.54–0.62), cardiovascular mortality (RR = 0.55; 95% CI, 0.51–0.60), and all-cause mortality (RR = 0.60; 95% CI, 0.57–0.63). In addition, SGLT-2Is presented favourable effects on hemoglobinA1c, fasting plasma glucose, systolic blood pressure, and diastolic blood pressure. The differences in blood lipids were also compared.

Conclusion

Sodium-glucose cotransporter-2 inhibitors are superior to DPP-4Is in terms of cardiovascular outcomes. Sodium-glucose cotransporter-2 inhibitors bring more benefits with respect to the cardiometabolic risk factors.
The relationship between cardiac resynchronization therapy and serum levels of copeptin in patients with chronic heart failure
Authors: Kerekanic M , Hudak M , Jakubova M , Kucerova D , Misikova S , Komanova E , Sedlak J , Boho A , Stancak B
Published: May 2021

Funding Acknowledgements

Type of funding sources: Public Institution(s). Main funding source(s): The present study was supported by a grant from Slovak Hearth Rhythm Association (Prognostic value of MR-proANP and MR-proADM in patients undergoing cardiac resynchronization therapy).

Background

Chronic heart failure (CHF) is a complex syndrome characterized by an abnormal neurohormonal activation, including arginine vasopressin (AVP). Copeptin is an indicator of AVP activation, which levels are elevated in CHF and have prognostic importance. Cardiac resynchronization therapy (CRT) is an important device therapy for patients with advanced CHF, left ventricular (LV) systolic dysfunction and evidence of electromechanical dyssynchrony. The aim of the present study was to determine the possible relationship between CRT and serum copeptin levels.

Methods

We have included CRT patients with ischemic as well as nonischemic etiology of CHF. The levels of copeptin were measured at baseline and 12 months respectively after CRT implantation. Echocardiography was also performed pre and 12 months post CRT implantation. A CRT response was defined as a ≥ 15 % reduction in LV end-systolic volume (LVESV).

Results

The study population consisted of 41 patients. The mean copeptin level was 20.50 ± 15.77 pmol/l. Copeptin levels positively correlated with New York Heart Association class, left atrial diameter, creatinine levels and NT-proBNP levels. CRT responders have significant reduction in copeptin levels from baseline to 12 months (from 16.96 ± 12.80 pmol/l to 6.20 ± 6.44 pmol/l, p < 0.001). No significant changes in copeptin levels were observed in CRT nonresponders. Reduction > 45 % in copeptin levels was predictor of CRT-response (OR 6.72, 95 % CI 1.01 - 18.11, p = 0.045).

Conclusion

The copeptin serum levels can be a useful biomarker in the evaluation of the CRT response.
HuConTest: Testing Human Contamination in Great Ape Samples
Authors: Kuhlwilm Martin , Fontsere Claudia , Han Sojung , Alvarez-Estape Marina , Marques-Bonet Tomas
Published: May 2021

Modern human contamination is a common problem in ancient DNA studies. We provide evidence that this issue is also present in studies in great apes, which are our closest living relatives, for example in noninvasive samples. Here, we present a simple method to detect human contamination in short-read sequencing data from different species: HuConTest. We demonstrate its feasibility using blood and tissue samples from these species. This test is particularly useful for more complex samples (such as museum and noninvasive samples) which have smaller amounts of endogenous DNA, as we show here.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Authors: Bassani Sissy , van Beelen Edward , Rossel Mireille , Voisin Norine , Morgan Anna , Arribat Yoan , Chatron Nicolas , Chrast Jacqueline , Cocca Massimiliano , Delprat Benjamin , Faletra Flavio , Giannuzzi Giuliana , Guex Nicolas , Machavoine Roxane , Pradervand Sylvain , Smits Jeroen J , van de Kamp Jiddeke M , Ziegler Alban , Amati Francesca , Marlin Sandrine , Kremer Hannie , Locher Heiko , Maurice Tangui , Gasparini Paolo , Girotto Giorgia , Reymond Alexandre
Published: May 2021

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelated NSHHL patient with predicted-to-be deleterious missense variants in USP48. We also uncovered an eighth patient presenting unilateral cochlear nerve aplasia and a de novo splice variant in the same gene. USP48 encodes a ubiquitin carboxyl-terminal hydrolase under evolutionary constraint. Pathogenicity of the variants is supported by in vitro assays that showed that the mutated proteins are unable to hydrolyze tetra-ubiquitin. Correspondingly, three-dimensional representation of the protein containing the familial missense variant is situated in a loop that might influence the binding to ubiquitin. Consistent with a contribution of USP48 to auditory function, immunohistology showed that the encoded protein is expressed in the developing human inner ear, specifically in the spiral ganglion neurons, outer sulcus, interdental cells of the spiral limbus, stria vascularis, Reissner’s membrane and in the transient Kolliker’s organ that is essential for auditory development. Engineered zebrafish knocked-down for usp48, the USP48 ortholog, presented with a delayed development of primary motor neurons, less developed statoacoustic neurons innervating the ears, decreased swimming velocity and circling swimming behavior indicative of vestibular dysfunction and hearing impairment. Corroboratingly, acoustic startle response assays revealed a significant decrease of auditory response of zebrafish lacking usp48 at 600 and 800 Hz wavelengths. In conclusion, we describe a novel autosomal dominant NSHHL gene through a multipronged approach combining ES, animal modeling, immunohistology and molecular assays.
Driving Performance Under Treatment of Most Frequently Prescribed Drugs for Mental Disorders: A Systematic Review of Patient Studies
Authors: Brunnauer Alexander , Herpich Florian , Zwanzger Peter , Laux Gerd
Published: May 2021

Background

Mobility is important for daily life functioning, with particular challenges regarding road safety under pharmacological treatment in patients with a psychiatric disease.

Methods

According to PRISMA guidelines, a systematic literature search on PubMed database (January 1970 to December 2020) was performed. Primary endpoints were driving performance in on-road tests, driving simulator performance, or psychomotor and visual perception functions assessed to estimate fitness to drive according to legal regulations in patient studies.

Results

Forty studies were identified (1533 patients, 38% female, median age 45 years), of which more than 60% were cross-sectional and open-label trials. Under steady-state medication, 31% (range 27%–42.5%) of schizophrenic or schizoaffective patients under antipsychotics and 18% (range 16%–20%) of unipolar and bipolar patients under antidepressants showed severe impairment in skills relevant for driving. Data point to an advantage of second-generation antipsychotics compared with first-generation antipsychotics as well as modern antidepressants over tricyclic antidepressants with respect to driving. Most patients significantly improved or stabilized in driving skills within 2–4 weeks of treatment with non-sedative or sedative antidepressants. Diazepam significantly worsened driving the first 3 weeks after treatment initiation, whereas medazepam (low dose), temazepam, and zolpidem did not impair driving. In long-term users of sedating antidepressants or benzodiazepines, impairments in on-road tests were not evident.

Conclusion

The available evidence suggests that psychopharmacologic medicines improve or at least stabilize driving performance of patients under long-term treatment when given on clinical considerations. To enhance treatment compliance, existing classification systems of medicinal drugs concerning impact on driving performance should also incorporate information about effects of long-term-treatment.
The Tangle-Free Hypothesis on Random Hyperbolic Surfaces
Authors: Monk Laura , Thomas Joe
Published: May 2021

This article introduces the notion of $L$-tangle-free compact hyperbolic surfaces, inspired by the identically named property for regular graphs. Random surfaces of genus $g$, picked with the Weil–Petersson probability measure, are $(a \log g)$-tangle-free for any $a<1$. This is almost optimal, for any surface is $(4 \log g + O (1))$-tangled. We establish various geometric consequences of the tangle-free hypothesis at a scale $L$, among which the fact that closed geodesics of length $< \frac L 4$ are simple, disjoint, and embedded in disjoint hyperbolic cylinders of width $\geq \frac{L}{4}$.
Face Processing and Social Functioning in Pediatric Brain Tumor Survivors
Authors: Hocking Matthew C , Albee May , Brodsky Cole , Shabason Emily , Wang Leah , Schultz Robert T , Herrington John
Published: May 2021

Objective

Pediatric brain tumor survivors (PBTS) experience deficits in social functioning. Facial expression and identity recognition are key components of social information processing and are widely studied as an index of social difficulties in youth with autism spectrum disorder (ASD) and other neurodevelopmental conditions. This study evaluated facial expression and identity recognition among PBTS, youth with ASD, and typically developing (TD) youth, and the associations between these face processing skills and social impairments.

Methods

PBTS (N = 54; ages 7–16) who completed treatment at least 2 years prior were matched with TD (N = 43) youth and youth with ASD (N = 55) based on sex and IQ. Parents completed a measure of social impairments and youth completed a measure of facial expression and identity recognition.

Results

Groups significantly differed on social impairments (p < .001), with youth with ASD scoring highest followed by PBTS and lastly TD youth. Youth with ASD performed significantly worse on the two measures of facial processing, while TD youth and PBTS were not statistically different. The association of facial expression recognition and social impairments was moderated by group, such that PBTS with higher levels of social impairment performed worse on the expression task compared to TD and ASD groups (p < .01, η2 = 0.07).

Conclusions

Variability in face processing may be uniquely important to the social challenges of PBTS compared to other neurodevelopmental populations. Future directions include prospectively examining associations between facial expression recognition and social difficulties in PBTS and face processing training as an intervention for PBTS.
muscle-ups: improved approximations of the matter field with the extended Press–Schechter formalism and Lagrangian perturbation theory
Authors: Tosone Federico , Neyrinck Mark C , Granett Benjamin R , Guzzo Luigi , Vittorio Nicola
Published: May 2021

Lagrangian algorithms to simulate the evolution of cold dark matter (CDM) are invaluable tools to generate large suites of mock halo catalogues. In this paper, we first show that the main limitation of current semi-analytical schemes to simulate the displacement of CDM is their inability to model the evolution of overdensities in the initial density field, a limit that can be circumvented by detecting halo particles in the initial conditions. We thus propose ‘MUltiscale Spherical Collapse Lagrangian Evolution Using Press–Schechter’ (muscle-ups), a new scheme that reproduces the results from Lagrangian perturbation theory on large scales, while improving the modelling of overdensities on small scales. In muscle-ups, we adapt the extended Press and Schechter formalism to Lagrangian algorithms of the displacement field. For regions exceeding a collapse threshold in the density smoothed at a radius R, we consider all particles within a radius R collapsed. Exploiting a multiscale smoothing of the initial density, we build a halo catalogue on the fly by optimizing the selection of halo candidates. This allows us to generate a density field with a halo mass function that matches one measured in N-body simulations. We further explicitly gather particles in each halo together in a profile, providing a numerical, Lagrangian-based implementation of the halo model. Compared to previous semi-analytical Lagrangian methods, we find that muscle-ups improves the recovery of the statistics of the density field at the level of the probability density function, the power spectrum, and the cross-correlation with the N-body result.
On the formation of terrestrial planets between two massive planets: the case of 55 Cancri
Authors: Zhou Lei , Dvorak Rudolf , Zhou Li-Yong
Published: May 2021

Considering the huge computational resources required by smoothed particle hydrodynamics (SPH) simulations and the overestimation of post-collision materials from perfect merging, we develop a statistical method to deal with collisions during the formation of planetary systems by introducing random material loss. In this method, the mass and water content lost by the sole outcome from every merger vary randomly within a range dependent on the total mass and water content of colliding bodies. The application of the random loss method to the planet formation in the Solar system shows a good consistency with existing SPH results. We also apply this method to the extrasolar planetary system 55 Cancri that hosts (at least) five planets and study the formation of terrestrial planets between the outermost two planets. A disc with 500 Mars mass embryos in dynamically cold orbits before the late-stage accretion phase is assumed. Scenarios with different amounts of planetary embryos and different loss parameters are adopted in our simulations. The statistical result from hundreds of simulations shows that an Earth-like planet with water inventory of roughly 6 Earth ocean could form between 55 Cnc f and d. It may reside between 1.0 and 2.6 au but the most likely region extends from 1.5 to 2.1 au. Thus, the probability of this planet being in the potentially habitable zone (0.59–1.43 au) is relatively low, only around 10 per cent. Planets 55 Cnc f and d could also be shaped and gain some water from giant impacts and consequently the orbits of them may also change accordingly.
WISDOM Project – IX. Giant molecular clouds in the lenticular galaxy NGC 4429: effects of shear and tidal forces on clouds
Authors: Liu Lijie , Bureau Martin , Blitz Leo , Davis Timothy A , Onishi Kyoko , Smith Mark , North Eve , Iguchi Satoru
Published: May 2021

We present high spatial resolution (≈12 pc) Atacama Large Millimeter/submillimeter Array 12CO(J = 3–2) observations of the nearby lenticular galaxy NGC 4429. We identify 217 giant molecular clouds within the 450 pc radius molecular gas disc. The clouds generally have smaller sizes and masses but higher surface densities and observed linewidths than those of Milky Way disc clouds. An unusually steep size–linewidth relation ($\sigma \propto R_{\rm c}^{0.8}$) and large cloud internal velocity gradients (0.05–0.91 km s−1 pc−1) and observed virial parameters (〈αobs,vir〉 ≈ 4.0) are found, which appear due to internal rotation driven by the background galactic gravitational potential. Removing this rotation, an internal virial equilibrium appears to be established between the self-gravitational (Usg) and turbulent kinetic (Eturb) energies of each cloud, i.e. $\langle \alpha _{\rm sg,vir}\equiv \frac{2E_{\rm turb}}{\vert U_{\rm sg}\vert }\rangle \approx 1.3$. However, to properly account for both self and external gravity (shear and tidal forces), we formulate a modified virial theorem and define an effective virial parameter $\alpha _{\rm eff,vir}\equiv \alpha _{\rm sg,vir}+\frac{E_{\rm ext}}{\vert U_{\rm sg}\vert }$ (and associated effective velocity dispersion). The NGC 4429 clouds then appear to be in a critical state in which the self-gravitational energy and the contribution of external gravity to the cloud’s energy budget (Eext) are approximately equal, i.e. $\frac{E_{\rm ext}}{\vert U_{\rm sg}\vert }\approx 1$. As such, 〈αeff,vir〉 ≈ 2.2 and most clouds are not virialized but remain marginally gravitationally bound. We show this is consistent with the clouds having sizes similar to their tidal radii and being generally radially elongated. External gravity is thus as important as self-gravity to regulate the clouds of NGC 4429.
IKT 16 aka PSR J0058–7218: discovery of a 22 ms energetic rotation-powered pulsar in the Small Magellanic Cloud
Authors: Maitra C , Esposito P , Tiengo A , Ballet J , Haberl F , Dai S , Filipović M D , Pilia M
Published: May 2021

We report here on the discovery with XMM–Newton of pulsations at 22 ms from the central compact source associated with IKT 16, a supernova remnant in the Small Magellanic Cloud (SMC). The measured spin period and spin period derivative correspond to 21.7661076(2) ms and 2.9(3) × 10−14 s s−1, respectively. Assuming standard spin-down by magnetic dipole radiation, the spin-down power corresponds to 1.1 × 1038 erg s−1 implying a Crab-like pulsar. This makes it the most energetic pulsar discovered in the SMC so far and a close analogue of PSR J0537–6910, a Crab-like pulsar in the Large Magellanic Cloud. The characteristic age of the pulsar is 12 kyr. Having for the first time a period measure for this source, we also searched for the signal in archival data collected in radio with the Parkes telescope and in γ-rays with the Fermi/LAT, but no evidence for pulsation was found in these energy bands.
Policing and Mental ill-health: Using Big Data to Assess the Scale and Severity of, and the Frontline Resources Committed to, mental ill-health-related calls-for-service
Authors: Langton Samuel , Bannister Jon , Ellison Mark , Haleem Muhammad Salman , Krzemieniewska-Nandwani Karolina
Published: May 2021

Addressing public safety and welfare, inclusive of responding to incidents involving persons with mental ill-health (PMIH) has become an integral dimension of, and a significant challenge to, contemporary policing. Yet, little is known of the scale and severity of such PMIH-related policing demand, nor of the extent of frontline resource consumed in resolving such incidents. To address this shortfall, we deploy a bespoke text mining algorithm on police incident logs to estimate the proportion and severity of calls-for-service involving PMIH in a study of Greater Manchester, UK. Furthermore, and using Global Positioning System data, we then assess the amount of time spent by frontline officers responding to these calls. Findings suggest that existing police recording practices serve to significantly underestimate the scale and severity of PMIH-related demand. The amount of time spent dealing with PMIH-related incidents is both substantial and disproportionate relative to other forms of police demand.
Concurrent starch accumulation in stump and high fruit production in coffee (Coffea arabica)
Authors: Cambou Aurélie , Thaler Philippe , Clément-Vidal Anne , Barthès Bernard G , Charbonnier Fabien , Van den Meersche Karel , Aguilar Vega Maria E , Avelino Jacques , Davrieux Fabrice , Labouisse Jean-Pierre , de Melo Virginio Filho Elias , Deleporte Philippe , Brunet Didier , Lehner Peter , Roupsard Olivier
Published: May 2021

In coffee, fruit production on a given shoot drops after some years of high yield, triggering pruning to induce resprouting. The timing of pruning is a crucial farmer’s decision affecting yield and labour. One reason for fruit production drop could be the exhaustion of resources, particularly the non-structural carbohydrates (NSC).

To test this hypothesis in a Coffea L. arabica agroforestry system, we measured the concentrations of NSC, carbon (C) and nitrogen (N) in leaves, stems and stumps of the coffee plants, 2 and 5 years after pruning. We also compared shaded vs full sun plants. For that purpose, both analytical reference and visible and near infrared reflectance spectroscopy (VNIRS) methods were used.

As expected, concentrations of biochemical variables linked to photosynthesis activity (N, glucose, fructose, sucrose) decreased from leaves to stems, and then to stumps. In contrast, variables linked more closely to plant structure and reserves (total C, C:N ratio, starch concentration) were higher in long lifespan organs like stumps. Shading had little effect on most measured parameters, contrary to expectations. Concentrations of N, glucose and fructose were higher in 2-year-old organs. Conversely, starch concentration in perennial stumps was three times higher 5 years after pruning than 2 years after pruning, despite high fruit production. Therefore, the drop in fruit production occurring after 5–6 years was not due to a lack of NSC on plant scale. Starch accumulation in perennial organs concurrently to other sinks, such as fruit growth, could be considered as a ‘survival’ strategy, which may be a relic of the behaviour of wild coffee (a tropical shade-tolerant plant).

This study confirmed that VNIRS is a promisingly rapid and cost-effective option for starch monitoring (coefficient of determination for validation, R2val = 0.91), whereas predictions were less accurate for soluble sugars, probably due to their too similar spectral signature.
Cardiopulmonary Sarcoid and Its Mimics
Authors: Capaccione Kathleen M. , Leb Jay S. , Salvatore Mary M.
Published: May 2021

Sarcoid is a multisystem granulomatous disease, which can result in multiorgan dysfunction and significant morbidity and mortality.1 Although sarcoid can present in nearly any system, pulmonary involvement is present in approximately 90% of cases.2
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3 Cardiac sarcoid is less common, and is believed to occur in 25% of patients with sarcoidosis.4 Both pulmonary and cardiac sarcoid can closely mimic other diseases presenting a challenge for the interpreting radiologist. Given that treatment may attenuate disease progression, it is essential for radiologists to recognize sarcoid early so that appropriate treatment can be initiated and to facilitate a search for other sites of disease.5
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