bluuebunny/crossref_metadata_2025_split huggingface dataset:
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Authors: Matthews Harold , Vanneste Michiel , Katsura Kaitlin , Aponte David , Patton Michael , Hammond Peter , Baynam Gareth , Spritz Richard , Klein Ophir D , Hallgrimsson Benedikt , Peeters Hilde , Claes Peter 
Published: July 2022

BackgroundIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped. In this work, we propose exploratory strategies for assessing facial phenotypic variation within and among clinical and molecular disease entities and deploy these techniques on cross-sectional samples of four RASopathies: Costello syndrome (CS), Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC) and neurofibromatosis type 1 (NF1).MethodsFrom three-dimensional dense surface scans, we model the typical phenotypes of the four RASopathies as average ‘facial signatures’ and assess individual variation in terms of direction (what parts of the face are affected and in what ways) and severity of the facial effects. We also derive a metric of phenotypic agreement between the syndromes and a metric of differences in severity along similar phenotypes.ResultsCFC shows a relatively consistent facial phenotype in terms of both direction and severity that is similar to CS and NS, consistent with the known difficulty in discriminating CFC from NS based on the face. CS shows a consistent directional phenotype that varies in severity. Although NF1 is highly variable, on average, it shows a similar phenotype to CS.ConclusionsWe established an approach that can be used in the future to quantify variations in facial phenotypes between and within clinical and molecular diagnoses to objectively define and support clinical nosologies.
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Authors: Shen Yuelin , Tang Xiaolei , Chen Qionghua , Xu Hui , Liu Hui , Liu Jinrong , Yang Haiming , Li Huimin , Zhao Shunying 
Published: July 2022

Background and objectivesCystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The objective of this study is to characterise the genotypic features of CF in Chinese children.MethodsWe recruited and characterised the genetic manifestations of 103 Chinese children with CF in Beijing Children’s Hospital from 2010 to 2022. Whole-exome sequencing were performed to define the genotypes. Meanwhile, other 99 genetically confirmed patients with Chinese origin described in 45 references were also summarised.Results158 different variants including 23 novel observations were identified after sequencing. The majority ofCFTRvariants (82.3%) in Chinese have been observed only once or twice. 43.7% of the variants were only identified in patients of Chinese origin. The c.2909G>A(p.Gly970Asp), c.1766+5G>T and c.1657C>T(p.Arg553X) were the most frequent variants among Chinese patients, with allele frequency of 12.1%, 5.4% and 3.6%, respectively. The first two variants both showed significant Chinese ethnic tendency, while the latter one most likely came from Europeans for historical reasons. They also demonstrated significant differences in geographical distribution. c.1521_1523delCTT(p.F508del) was rarely observed in patients of pure Chinese origin, with an allele frequency of 1.8%. Two de novo variants (c.960dupA[p.Ser321IlefsX43] and c.2491-2A>G) and two deep-intronic variants (c.3718–2477C>T and c.3874-4522A>G) were identified, which were also quite rare among Chinese.ConclusionsThe genetic spectrum of CF in Chinese is unique and quite different from that observed in Caucasians. The geographical distributions of the most frequent variants were reported for the first time.
Multispecialty multidisciplinary input into comorbidities along with treatment optimisation in heart failure reduces hospitalisation and clinic attendance
Authors: Essa Hani , Walker Lauren , Mohee Kevin , Oguguo Chukwuemeka , Douglas Homeyra , Kahn Matthew , Rao Archana , Bellieu Julie , Hadcroft Justine , Hartshorne-Evans Nick , Bliss Janet , Akpan Asangaedem , Wong Christopher , Cuthbertson Daniel J , Sankaranarayanan Rajiv 
Published: July 2022

AimsHeart failure (HF) is associated with comorbidities which independently influence treatment response and outcomes. This retrospective observational study (January 2020–June 2021) analysed the impact of monthly HF multispecialty multidisciplinary team (MDT) meetings to address management of HF comorbidities and thereby on provision, cost of care and HF outcomes.MethodsPatients acted as their own controls, with outcomes compared for equal periods (for each patient) pre (HF MDT) versus post-MDT (multispecialty) meeting. The multispecialty MDT comprised HF cardiologists (primary, secondary, tertiary care), HF nurses, nephrologist, endocrinologist, palliative care, chest physician, pharmacist, clinical pharmacologist and geriatrician. Outcome measures were (1) all-cause hospitalisations, (2) outpatient clinic attendances and (3) cost.Results334 patients (mean age 72.5±11 years) were discussed virtually through MDT meetings and follow-up duration was 13.9±4 months. Mean age-adjusted Charlson Comorbidity Index was 7.6±2.1 and Rockwood Frailty Score 5.5±1.6. Multispecialty interventions included optimising diabetes therapy (haemoglobin A1c-HbA1c pre-MDT 68±11 mmol/mol vs post-MDT 61±9 mmol/mol; p<0.001), deprescribing to reduce anticholinergic burden (pre-MDT 1.85±0.4 vs 1.5±0.3 post-MDT; p<0.001), initiation of renin–angiotensin aldosterone system inhibitors in HF with reduced ejection fraction (HFrEF) with advanced chronic kidney disease (9% pre vs 71% post-MDT; p<0.001). Other interventions included potassium binders, treatment of anaemia, falls assessment, management of chest conditions, day-case ascitic, pleural drains and palliative support. Total cost of funding monthly multispecialty meetings was £32 400 and resultant 64 clinic appointments cost £9600. The post-MDT study period was associated with reduction in 481 clinic appointments (cost saving £72150) and reduced all-cause hospitalisations (pre-MDT 1.1±0.4 vs 0.6±0.1 post-MDT; p<0.001), reduction of 1586 hospital bed-days and cost savings of £634 400. Total cost saving to the healthcare system was £664 550.ConclusionHF multispecialty virtual MDT model provides integrated, holistic care across all healthcare tiers for management of HF and associated comorbidities. This approach is associated with reduced clinic attendances and all-cause hospitalisations, leading to significant cost savings.
The protective effect of muscimol against systemic inflammatory response in endotoxemic mice is independent of GABAergic and cholinergic receptors
Authors: Li Ya-Hui , Hsu Dur-Zong , Liu Chuan-Teng , Chandrasekaran Victor Raj Mohan , Liu Ming-Yie 
Published: July 2022

Systemic inflammatory response syndrome plays an important role in the development of sepsis. GABAergic and cholinergic pathways activation are considered important for inflammatory response regulation. Tumor necrosis factor (TNF)-α, interleukin (IL)-1β, IL-12, IL-10, as well as inducible nitric oxide synthase (iNOS)-derived nitric oxide (NO) are important inflammatory mediators involved in the pathogenesis of sepsis. Muscimol, an active compound from the mushroom Amanita muscaria (L.) Lam., is a potent GABAA agonist, inhibits inflammatory response via activating GABAA receptor and vagus nerve. However, the effect of muscimol on lipopolysaccharide (LPS)-induced systemic inflammatory response is still unclear. Therefore, we studied the effects of muscimol on systemic inflammatory response and survival rate in endotoxemic mice. Mice endotoxemia was induced by LPS. Muscimol was given to mice or RAW264.7 cells 30 min before LPS (10 mg/kg, i.p., or 10 ng/mL, respectively). Mice received GABAergic and cholinergic receptor antagonists 30 min before muscimol and LPS. Muscimol decreased TNF-α, IL-1β, IL-12, iNOS-derived NO, and increased IL-10 levels and survival rate after LPS treatment. Muscimol significantly decreased nuclear factor kappa B (NF-κB) activity, increased IκB expression, and decreased pIKK expression in LPS-treated RAW264.7 cells. GABAergic and cholinergic antagonists failed to reverse muscimol’s protection in LPS-treated mice. In conclusion, muscimol protected against systemic inflammatory response in endotoxemic mice may be partially independent of GABAergic and cholinergic receptors.
Effects of decreasing photoperiod on cold acclimation of asparagus seedlings
Authors: Short William , Wolyn David J. 
Published: July 2022

Cold acclimation is a vital process for surviving subzero temperatures in asparagus ( Asparagus officinalis L.). A winter hardy cultivar, “Guelph Millennium” (GM), cold acclimates, senesces, and develops freezing tolerance earlier in the fall compared to “UC157” (UC), a cultivar adapted to warm climates. Decreasing photoperiod can induce timely senescence and freezing tolerance in both woody and herbaceous perennials, although its effects on asparagus are unclear. The objectives of this research were to study the effects of daylength and cold, and their interaction, on the induction of freezing tolerance in asparagus. Seedlings of GM and UC were subjected to four treatments: constant (15.5 h) or decreasing (15.5–14 h) photoperiods with either high (23 °C) or low (11 °C) temperatures. Decreasing daylengths did not impact the acquisition of freezing tolerance at either temperature. For UC, low temperature accompanied by decreasing photoperiod diminished root:shoot ratio and increased crown water percentage, which are both indicators of reduced dormancy. A decreasing photoperiod and high temperature increased crown fructan (total and high-molecular weight) and decreased glucose and proline concentrations in GM compared to UC. These results suggest that decreasing daylengths, similar to those occurring in late summer in Southern Ontario, may be a signal for crown metabolite partitioning. This effect may be a contributing factor to the timely senescence and cold acclimation seen in GM compared to UC.
How much is the compositeness of a bound state constrained by a and $$r_0$$? The role of the interaction range
Authors: Song Jing , Dai L. R. , Oset E. 
Published: July 2022

AbstractWe present an approach that allows one to obtain information on the compositeness of molecular states from combined information of the scattering length of the hadronic components, the effective range, and the binding energy. We consider explicitly the range of the interaction in the formalism and show it to be extremely important to improve on the formula of Weinberg obtained in the limit of very small binding and zero range interaction. The method allows obtaining good information also in cases where the binding is not small. We explicitly apply it to the case of the deuteron and the$$D^{*}_{s0}(2317)$$Ds0∗(2317)and$$D^{*}_{s1}(2460)$$Ds1∗(2460)states and determine simultaneously the value of the compositeness within a certain range, as well as get qualitative information on the range of the interaction.
Photoconductivity on K-feldspar
Authors: Uzorka Afam 
Published: July 2022

In the development of most phenomenological models used to explain the infrared excited luminescence, a major assumption is usually made in the degree of freedom the excited charge has. One of the two extremes is normally assumed: charge is free to move anywhere over the whole crystal, or it is confined close to the trap and the centers immediately adjacent to it. Determining which of these extremes is more reasonable is difficult to do on the basis of the temporal behavior of the luminescence intensity alone. However, this assumption has important consequences for the understanding of the dynamics of the luminescence process because of the difference in the number of recombination and trapping centers available to the excited charge. Additional experimental evidence was thus sought on this aspect of charge movement. One such experiment is the detection of photoconductivity in which an electrical current is measured during optical excitation or shortly there-after. In this paper, the details of photoconductivity experiments on K crystal are presented. Photoconductivity measurements were inconclusive as to whether or not there was a current flowing during the 850 nm excitation of a feldspar sample. However, there was a clear current when exciting the same sample with 515 nm light, but there was a complex relationship between the magnitude of the current and the number of emission photons counted. A model was developed to explain the photoconductivity results where electrons migrate through the conduction band aided by thermal excitation and tunneling.
Long‐Term Outcomes of Pulmonary Vein Isolation in Patients With Brugada Syndrome and Paroxysmal Atrial Fibrillation
Authors: Bisignani Antonio , Conte Giulio , Pannone Luigi , Sieira Juan , Del Monte Alvise , Lipartiti Felicia , Bala Gezim , Miraglia Vincenzo , Monaco Cinzia , Ströker Erwin , Overeinder Ingrid , Almorad Alexandre , Gauthey Anaïs , Franchetti Pardo Livia , Raes Matthias , Detriche Olivier , Brugada Pedro , Auricchio Angelo , Chierchia Gian‐Battista , de Asmundis Carlo 
Published: July 2022

Background
Pharmacological treatment of atrial fibrillation (AF) in the setting of Brugada syndrome (BrS) is challenging. In addition, patients with BrS with an implantable cardioverter‐defibrillator (ICD) might experience inappropriate shocks for fast AF. Long‐term outcome of pulmonary vein isolation in BrS has not been well established yet, and it is still unclear whether pulmonary vein triggers are the only pathophysiological mechanism of AF in BrS. The aim of the study is to assess the long‐term outcomes in patients with BrS undergoing pulmonary vein isolation for paroxysmal AF compared with a matched cohort of patients without BrS.

Methods and Results

Sixty patients with BrS undergoing pulmonary vein isolation with cryoballoon catheter ablation for paroxysmal AF were matched with 60 patients without BrS, who underwent the same procedure. After a mean follow‐up of 58.2±31.7 months, freedom from atrial tachyarrhythmias was achieved in 61.7% in the BrS group and in 78.3% in the non‐BrS group (log‐rank
P
=0.047). In particular, freedom from AF was 76.7% in the first group and in 83.3% in the second (
P
=0.27), while freedom from atrial tachycardia/atrial flutter was 85% and 95% (
P
=0.057). In the BrS group, 29 patients (48.3%) had an ICD and 8 (27.6%) had a previous ICD‐inappropriate shock for fast AF. In the BrS cohort, ICD‐inappropriate interventions for AF were significantly reduced after ablation (3.4% versus 27.6%;
P
=0.01).

Conclusions
Pulmonary vein isolation in patients with BrS was associated with higher rate of arrhythmic recurrence. Despite this, catheter ablation significantly reduced inappropriate ICD interventions in BrS patients and can be considered a therapeutic strategy to prevent inappropriate device therapies.
Matricide, Myth, and the Great Mother: An Asian Ecofeminist Reading of Seolmundae (the Creator of Jeju Island in Korea) and Nüwa (the Protector Goddess of Chinese Mythology)
Authors: Oh Jea Sophia 
Published: July 2022

Abstract
This study is an Asian ecofeminist reading of two Great Mother Goddesses, Seolmundae (the Creator of Jeju Island in Korea) and Nüwa (the Protector Goddess of Chinese mythology). Nüwa (yin) cannot be reduced to just a counter part of Fuxi (yang) while Seolmundae cannot be shadowed as one of many other creation myths. Rather, they are the Great Mother, the Divine Feminine as the fecundity of Life, the healing Spirit, and the caring Heart which we have to discover and rescue from our forgotten histories to transform violent culture into caring and healing culture. The purpose of this study is to say yes to salim (enlivening, healing, caring-Life with a capital L) and to say no to disruptions of Life (war, violence, destroying nature) as we witness the physical and spiritual sufferings and degradation caused by oppression of those that rendered subaltern. Discovering the Goddess is our ethical imperative for expanding healing culture and loving nature and recognizing the agencies/subjectivities of the subaltern, including Asian women and nature.
Biblical Exegesis and Systematic Theology
Authors: Huijgen Arnold , van Bekkum Koert , Burger Hans 
Published: July 2022

Abstract
Notwithstanding the legitimate distinction between biblical studies and systematic theology, these disciplines can and should benefit from each other. On the one hand, biblical studies deals with texts that make claims about God that are read primarily in a liturgical context by people with a faith commitment. Accordingly, while the distantiation of an academic approach is helpful, a systematic theological dimension enriches the otherwise rather naturalistic biblical studies. On the other hand, systematic theology needs biblical studies. Historical Christian theology shows that abstract theology without engagement with biblical studies becomes arid. Current emphases on history, language, narrative, and Israel offer opportunities to connect the two disciplines. This article sketches a methodology for the mutual benefit of biblical studies and systematic theology.
A Truly African Christianity
Authors: Larsen Timothy 
Published: July 2022

Abstract
John Gachango Gatũ (1925–2017) was one of the most prominent and important Kenyan church leaders of his generation. He was the first African to serve as general secretary of the Presbyterian Church of East Africa, and then went on to be moderator. He also held influential positions in numerous Christian organizations, including the All Africa Conference of Churches and the World Council of Churches. He is best remembered for his call, first issued in 1971, for a moratorium on Western missionaries and resources in the developing world. At the time, this controversial proposal also led to some discussion about whether or not he was a still an Evangelical. Gatũ published three books in the twenty-first century, including a substantial autobiography, and in the light of these it is now possible to assess his thought and his entire life and ministry on their own terms. When that is done it become apparent that he emphasized three distinctives of his churchmanship: he was a revivalist who was deeply committed to the East African Revival Movement; an ecumenist who worked tirelessly for Christian cooperation and unity; and, perhaps most of all, an Africanist who continually sought to inhabit and commend a truly African Christianity.
A Reformed Engagement with Bulgakov’s Doctrine of Wisdom
Authors: McCracken Kyle 
Published: July 2022

Abstract
This article engages Sergei Bulgakov’s doctrine of divine wisdom with key reference to the work Sophia the Wisdom of God. It is proposed that Bulgakov viewed the life of the Orthodox Church as a form of living wisely within the world. Following a general overview of his doctrine of Sophia, it is shown that Bulgakov viewed Mariology and Eucharist as key indicators of the life of wisdom within the world. The article closes with a Reformed reflection.
“My Holy Mountain”
Authors: Hausoul Raymond R. 
Published: July 2022

Abstract
In recent years there has been an increased focus within the field of eschatology on a future peace for all creatures. This article examines how the geographical designation “my holy mountain” in Isaiah 11 and 65 may influence these speculations. It discusses recent propositions for an eschatological peace among animals and develops a proposal from the geographical designation in which it demonstrates how this (1) influences the perspective of continuity and discontinuity in the eschaton, (2) emphasizes a gradual-immanent transformation of all creatures, (3) takes into account the uniqueness of creatures, (4) and relates this to the concept of the Sabbath as representative of the eschaton.
Guilt Concepts in Reformed Doctrines on Original Sin
Authors: Vorster Nico 
Published: July 2022

Abstract
This research aims to identify the guilt concepts used in Reformed doctrines on the origin and transmission of sin and to evaluate them in light of the criteria of biblical authenticity, rational plausibility, fairgrounds of culpability, and the principle of causing non-harm. The results show that the Reformed tradition predominantly employs the notions of original guilt, inherited guilt, collective ‘species’ guilt (realism), ‘devolved’ collective guilt (federalism), and actual guilt. Actual guilt is the only guilt concept that satisfies all of the stated criteria, as it preserves the link between human agency and human accountability. The question that flows from this observation is: Can Reformed original sin doctrines be purged from harmful guilt concepts without subverting the essence of the doctrine? The article suggests that the notion of actual guilt is perfectly capable of carrying the basic message of the original sin doctrines, provided that we keep the personal and collective dimensions of actual guilt together and that we refrain from espousing comprehensive causal-explanatory theories on the transmission of sin.
The Thursday Murder Club
Authors: Barker David , Mitchell Cat 
Published: July 2022

Abstract
In 2020, the Christmas book charts in the UK made headlines: Barack Obama’s eagerly awaited autobiography, The Promised Land, was beaten to the top spot by The Thursday Murder Club by Richard Osman, a debut cosy crime novel set in a retirement village. Not only did Osman’s book beat the former US president’s expected bestseller, it also broke records, becoming the fastest-selling debut crime novel of all time. Although Osman has a certain level of fame in the UK from his TV appearances on shows such as Pointless, his celebrity status does not entirely explain the novel’s huge sales. This article tracks the acquisition, publication, and promotion journey of The Thursday Murder Club in order to understand the industry and cultural context of its success and to interrogate the role of celebrity in the creation of author brands. The findings suggest that the unexpected scale of the success of the book owed to a number of factors, including in-depth editing by the novel’s agent, editor, and author to tighten up the plot, an extensive and strategic promotional campaign, the pandemic (which drove interest in the book’s genre and themes), and the quality of the writing. We find that the book’s success was accentuated by Osman’s celebrity status rather than being entirely reliant on it. This research adds to the growing scholarship on celebrity authorship by means of an in-depth case study and provides insight into the processes behind publishing a ‘celebrity’ book and launching a megabrand author.
Minority-Language Publishing
Authors: Miller Samantha 
Published: July 2022

Abstract
Afrikaans is regarded as a peripheral language in the global polysystem of language, as well as a minority language in terms of the proportion of South Africa’s people who speak this language. In order to expand the market for Afrikaans trade books and to position Afrikaans literature internationally, there needs to be more visibility and resourcing, translation rights need to be sold, and South African publishing to be positively rebranded. This article explores the challenges and opportunities of Afrikaans publishing, applies polysystems theory as a theoretical framework, undertakes a comprehensive literature review, and discusses findings from interviews with trade publishers and observations at the Frankfurt Book Fair.