bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India
Authors: Kumar Jindal Ankur , Sil Archan , Aggarwal Ridhima , Tyagi Rahul , Mondal Sanjib , Singh Ankita , Barman Prabal , Chawla Sanchi , Loganathan Sathish Kumar , Gupta Kirti , Vinay Keshavamurthy , Mahajan Rahul , Saikia Biman , Kaur Gurjeet , Sharma Rajni , Saka Ruchi , Bhatia Anmol , Sankhyan Naveen , Pandiarajan Vignesh , Pilania Rakesh , Dhaliwal Manpreet , Sharma Saniya , Vyas Sameer , Suri Deepti , Rawat Amit , Singh Surjit 
Published: October 2023

Abstract

Background
Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.

Objectives
To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.

Methods
Clinic records of all patients attending the primary immunodeficiency clinic from 2018 to 2021 were reviewed. Six patients from five families were found to have DOCK8 deficiency.

Results
Median age at diagnosis was 7.5 years (range 2–13), with a male/female ratio of 5 : 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manifestation, present in five patients (83%). Warts and molluscum contagiosum were evident in two patients (33%) and one patient (16%), respectively. Two patients had recalcitrant prurigo nodularis lesions and two had epidermodysplasia verruciformis-like lesions. Food allergies and asthma were reported by one patient each. Of the six patients, recurrent sinopulmonary infections were detected in five (83%). Epstein–Barr virus-driven non-Hodgkin lymphoma with liver metastases was the only case of malignancy, in a 4-year-old boy. IgE was elevated in all patients. Lymphopenia and eosinophilia were observed in three patients (50%) and five patients (83.3%), respectively. Genetic analysis showed DOCK8 pathogenic variants in all patients: homozygous deletion mutations in two patients, compound heterozygous deletion mutations in one, and homozygous nonsense mutations in two. A novel pathogenic homozygous missense variant in the DOCK8 gene was identified in one patient.

Conclusions
DOCK8 deficiency should be considered as a possibility in any patient with early onset eczema, cutaneous viral infections and increased predisposition to allergy, autoimmunity and malignancy.
Dissociable online integration processes in visual working memory
Authors: Balaban Halely , Drew Trafton , Luria Roy 
Published: October 2023

Abstract
Visual working memory has severe capacity limits, creating a bottleneck for active processing. A key way of mitigating this limitation is by chunking, i.e. compressing several pieces of information into one visual working memory representation. However, despite decades of research, chunking efficiency remains debated because of mixed evidence. We propose that there are actually 2 integration mechanisms: Grouping combines several objects to one representation, and object-unification merges the parts of a single object. Critically, we argue that the fundamental distinction between the 2 processes is their differential use of the pointer system, the indexing process connecting visual working memory representations with perception. In grouping, the objects that are represented together still maintain independent pointers, making integration costly but highly flexible. Conversely, object-unification fuses the pointers as well as the representations, with the single pointer producing highly efficient integration but blocking direct access to individual parts. We manipulated integration cues via task-irrelevant movement, and monitored visual working memory’s online electrophysiological marker. Uniquely colored objects were flexibly grouped and ungrouped via independent pointers (experiment 1). If objects turned uniformly black, object-integration could not be undone (experiment 2), requiring visual working memory to reset before re-individuation. This demonstrates 2 integration levels (representational-merging versus pointer-compression) and establishes the dissociation between visual working memory representations and their underlying pointers.
Plasma Microbial Cell-Free DNA Sequencing in Immunocompromised Patients With Pneumonia: A Prospective Observational Study
Authors: Bergin Stephen P , Chemaly Roy F , Dadwal Sanjeet S , Hill Joshua A , Lee Yeon Joo , Haidar Ghady , Luk Alfred , Drelick Alexander , Chin-Hong Peter V , Benamu Esther , Khawaja Fareed , Nanayakkara Deepa , Papanicolaou Genovefa A , Small Catherine Butkus , Fung Monica , Barron Michelle A , Davis Thomas , McClain Micah T , Maziarz Eileen K , Madut Deng B , Bedoya Armando D , Gilstrap Daniel L , Todd Jamie L , Barkauskas Christina E , Bigelow Robert , Leimberger Jeffrey D , Tsalik Ephraim L , Wolf Olivia , Mughar Mona , Hollemon Desiree , Duttagupta Radha , Lupu Daniel S , Bercovici Sivan , Perkins Bradley A , Blauwkamp Timothy A , Fowler Vance G , Holland Thomas L 
Published: October 2023

Abstract

Background
Pneumonia is a common cause of morbidity and mortality, yet a causative pathogen is identified in a minority of cases. Plasma microbial cell-free DNA sequencing may improve diagnostic yield in immunocompromised patients with pneumonia.

Methods
In this prospective, multicenter, observational study of immunocompromised adults undergoing bronchoscopy to establish a pneumonia etiology, plasma microbial cell-free DNA sequencing was compared to standardized usual care testing. Pneumonia etiology was adjudicated by a blinded independent committee. The primary outcome, additive diagnostic value, was assessed in the Per Protocol population (patients with complete testing results and no major protocol deviations) and defined as the percent of patients with an etiology of pneumonia exclusively identified by plasma microbial cell-free DNA sequencing. Clinical additive diagnostic value was assessed in the Per Protocol subgroup with negative usual care testing.

Results
Of 257 patients, 173 met Per Protocol criteria. A pneumonia etiology was identified by usual care in 52/173 (30.1%), plasma microbial cell-free DNA sequencing in 49/173 (28.3%) and the combination of both in 73/173 (42.2%) patients. Plasma microbial cell-free DNA sequencing exclusively identified an etiology of pneumonia in 21/173 patients (additive diagnostic value 12.1%, 95% confidence interval [CI], 7.7% to 18.0%, P &lt; .001). In the Per Protocol subgroup with negative usual care testing, plasma microbial cell-free DNA sequencing identified a pneumonia etiology in 21/121 patients (clinical additive diagnostic value 17.4%, 95% CI, 11.1% to 25.3%).

Conclusions
Non-invasive plasma microbial cell-free DNA sequencing significantly increased diagnostic yield in immunocompromised patients with pneumonia undergoing bronchoscopy and extensive microbiologic and molecular testing.

Clinical Trials Registration
NCT04047719.
The Need for a Criminal Division of the High Court?
Authors: Ormerod David 
Published: October 2023

Abstract
It seems to be assumed by some that ‘crime is easy’. Not the commission of it, nor the securing of ill-gotten gains from it, but the study, practice, and judging of it. In this paper, I challenge what might be a significant consequence of such an assumption—the systemic impacts on the appointment and deployment of High Court judges and the structure of the High Court. I argue that criminal judging at both first instance and on appeal is distinctive and demands a cadre of expert judges. I explore two core criminal roles performed by High Court Judges—one as a first-instance trial judge trying the most serious offence of murder, and the other sitting in an appellate capacity reviewing applications for leave to appeal from the Crown Court. This leads me to conclude that the current system of recruitment to the King’s Bench Division (KBD) of the High Court fails to guarantee that all KBD judges who sit in crime have the ideal level of expertise in criminal judging to equip them for that role. In turn, this prompts consideration of a range of solutions including, most radically, a proposal for the creation of a Criminal Division of the High Court, and the benefits that might offer.
Left bundle branch pacing with and without anodal capture: impact on ventricular activation pattern and acute haemodynamics
Authors: Ali Nadine , Saqi Khulat , Arnold Ahran D , Miyazawa Alejandra A , Keene Daniel , Chow Ji-Jian , Little Ian , Peters Nicholas S , Kanagaratnam Prapa , Qureshi Norman , Ng Fu Siong , Linton Nick W F , Lefroy David C , Francis Darrel P , Boon Lim Phang , Tanner Mark A , Muthumala Amal , Agarwal Girija , Shun-Shin Matthew J , Cole Graham D , Whinnett Zachary I 
Published: October 2023

Abstract

Aims
Left bundle branch pacing (LBBP) can deliver physiological left ventricular activation, but typically at the cost of delayed right ventricular (RV) activation. Right ventricular activation can be advanced through anodal capture, but there is uncertainty regarding the mechanism by which this is achieved, and it is not known whether this produces haemodynamic benefit.

Methods and results
We recruited patients with LBBP leads in whom anodal capture eliminated the terminal R-wave in lead V1. Ventricular activation pattern, timing, and high-precision acute haemodynamic response were studied during LBBP with and without anodal capture. We recruited 21 patients with a mean age of 67 years, of whom 14 were males. We measured electrocardiogram timings and haemodynamics in all patients, and in 16, we also performed non-invasive mapping. Ventricular epicardial propagation maps demonstrated that RV septal myocardial capture, rather than right bundle capture, was the mechanism for earlier RV activation. With anodal capture, QRS duration and total ventricular activation times were shorter (116 ± 12 vs. 129 ± 14 ms, P &lt; 0.01 and 83 ± 18 vs. 90 ± 15 ms, P = 0.01). This required higher outputs (3.6 ± 1.9 vs. 0.6 ± 0.2 V, P &lt; 0.01) but without additional haemodynamic benefit (mean difference −0.2 ± 3.8 mmHg compared with pacing without anodal capture, P = 0.2).

Conclusion
Left bundle branch pacing with anodal capture advances RV activation by stimulating the RV septal myocardium. However, this requires higher outputs and does not improve acute haemodynamics. Aiming for anodal capture may therefore not be necessary.
The Copyrightability of Works of Applied Art in China ‒ Case Note of Guiding Case No. 157 by the Supreme People’s Court of the People’s Republic of China
Authors: Rentsch Rudolf A , Zingg Raphael 
Published: October 2023

Abstract
With comparatively new copyright laws, China’s courts are still crystalizing the standards of copyrightability. In recent years, case law has particularly clarified that works of applied art qualify for copyright protection, but the enforcement of such claims was long deemed risky in practice due to the uncertainty regarding the interpretation of the protection requirements.
Guiding Case No. 157 of the Supreme People’s Court of the People’s Republic of China demonstrates a newfound consistency in the application of copyright protection standards to works of applied art. Doctrinally, the case law analysis highlights that Chinese courts have merged two distinct copyrightability requirements, originality and aesthetics, settling for that which we call a threshold of ‘original aesthetics’.
Practitioners litigating international portfolios should be aware of the potential to successfully enforce copyright claims over works of applied art in China. The doctrinal delineation between originality and aesthetics is of importance not only within the scope of academic research, but also serves trial attorneys when pleading copyright infringement cases.
Perspectives for glycaemic control in type 2 diabetes in Kinshasa, Democratic Republic of the Congo
Authors: Lubaki Jean-Pierre Fina , Francis Joel Msafiri , Omole Olufemi Babatunde 
Published: October 2023

Abstract
Glycaemic control is a significant problem in the Democratic Republic of the Congo (DRC), the perspectives associated with glycaemic control are not fully known as previous studies rarely explored patients’ perspectives and lived experiences. This qualitative study described the perspectives regarding glycaemic control among persons with type 2 diabetes in Kinshasa, DRC. A total of 23 participants were purposively selected in seven health centres in Kinshasa. In-depth interviews were used for data collection. The study used a phenomenology approach, and deductive, constructionist and thematic analysis. Data analysis was performed using the MAXQDA 2022. Five themes were identified as perspectives for glycaemic control in Kinshasa: financial constraints, limited social and relational support, difficulties with lifestyle changes, beliefs and practices about diabetes and ability to adapt for caring for the illness. Themes were integrated using social cognitive theory. Participants expressed that they were unable to achieve better glycaemic control due to financial constraints, limited social and relational support and difficulty in changing their lifestyle. Their beliefs and practices about diabetes also constituted a barrier. Our results showed that lack of adequate funding is a major determinant of glycaemic control and therefore it is crucial to integrate a consistent and reliable funding system for care of people living with diabetes. Persons with diabetes must be empowered to successfully adapt to the requirements of diabetes care. In this process, support for people living with type 2 diabetes is also essential and should involve their families as well as healthcare providers.
Blueberry and cranberry pangenomes as a resource for future genetic studies and breeding efforts
Authors: Yocca Alan E , Platts Adrian , Alger Elizabeth , Teresi Scott , Mengist Molla F , Benevenuto Juliana , Ferrão Luis Felipe V , Jacobs MacKenzie , Babinski Michal , Magallanes-Lundback Maria , Bayer Philipp , Golicz Agnieszka , Humann Jodi L , Main Dorrie , Espley Richard V , Chagné David , Albert Nick W , Montanari Sara , Vorsa Nicholi , Polashock James , Díaz-Garcia Luis , Zalapa Juan , Bassil Nahla V , Munoz Patricio R , Iorizzo Massimo , Edger Patrick P 
Published: October 2023

Abstract
Domestication of cranberry and blueberry began in the United States in the early 1800s and 1900s, respectively, and in part owing to their flavors and health-promoting benefits are now cultivated and consumed worldwide. The industry continues to face a wide variety of production challenges (e.g. disease pressures), as well as a demand for higher-yielding cultivars with improved fruit quality characteristics. Unfortunately, molecular tools to help guide breeding efforts for these species have been relatively limited compared with those for other high-value crops. Here, we describe the construction and analysis of the first pangenome for both blueberry and cranberry. Our analysis of these pangenomes revealed both crops exhibit great genetic diversity, including the presence–absence variation of 48.4% genes in highbush blueberry and 47.0% genes in cranberry. Auxiliary genes, those not shared by all cultivars, are significantly enriched with molecular functions associated with disease resistance and the biosynthesis of specialized metabolites, including compounds previously associated with improving fruit quality traits. The discovery of thousands of genes, not present in the previous reference genomes for blueberry and cranberry, will serve as the basis of future research and as potential targets for future breeding efforts. The pangenome, as a multiple-sequence alignment, as well as individual annotated genomes, are publicly available for analysis on the Genome Database for Vaccinium—a curated and integrated web-based relational database. Lastly, the core-gene predictions from the pangenomes will serve useful to develop a community genotyping platform to guide future molecular breeding efforts across the family.
Joint maintenance and spare-parts inventory models: a review and discussion of practical stock-keeping rules
Authors: Scarf Phil , Syntetos Aris , Teunter Ruud 
Published: October 2023

AbstractAccepted by: M. Zied BabaiIt is natural to coordinate spare-parts inventory planning and maintenance. However, work in the former area often neglects part utilization, and work in the latter neglects the fact that effective execution of maintenance schedules is conditioned to the availability of the necessary spare parts. This paper is a call for further integration between the two areas, and to that end, we review the literature on mathematical modelling and analysis of inventory-maintenance-planning. We are not the first to address this issue (though we take a fresh perspective to the problem), but we are the first to complement such review with a discussion of simple stock keeping rules that may be used effectively in practice. We identify a growing gap between modelling and application, between theory and practice, which justifies the presentation of these simple stock keeping rules for the joint planning of inventory and maintenance. Thus, our work should be of interest not only to researchers who are looking for promising avenues for future research but also to practitioners who are seeking to improve inventory-maintenance operations.
The Dimension of Harmonic Measure on Some AD-Regular Flat Sets of Fractional Dimension
Authors: Tolsa Xavier 
Published: October 2023

Abstract
In this paper, it is shown that if $E\subset {{\mathbb {R}}}^{n+1}$ is an $s$-AD regular compact set, with $s\in [n-\frac 12,n)$, and $E$ is contained in a hyperplane or, more generally, in an $n$-dimensional $C^{1}$ manifold, then the Hausdorff dimension of the harmonic measure for the domain ${{\mathbb {R}}}^{n+1}\setminus E$ is strictly smaller than $s$, that is, than the Hausdorff dimension of $E$.
Dichotomy and Measures on Limit Sets of Anosov Groups
Authors: Lee Minju , Oh Hee 
Published: October 2023

Abstract
Let $G$ be a connected semisimple real algebraic group. For a Zariski dense Anosov subgroup $\Gamma &lt;G$, we show that a $\Gamma $-conformal measure is supported on the limit set of $\Gamma $ if and only if its dimension is $\Gamma $-critical. This implies the uniqueness of a $\Gamma $-conformal measure for each critical dimension, answering the question posed in our earlier paper with Edwards [13]. We obtain this by proving a higher rank analogue of the Hopf–Tsuji–Sullivan dichotomy for the maximal diagonal action. Other applications include an analogue of the Ahlfors measure conjecture for Anosov subgroups.
Diverging Maternal and Cord Antibody Functions From SARS-CoV-2 Infection and Vaccination in Pregnancy
Authors: Adhikari Emily H , Lu Pei , Kang Ye Jin , McDonald Ann R , Pruszynski Jessica E , Bates Timothy A , McBride Savannah K , Trank-Greene Mila , Tafesse Fikadu G , Lu Lenette L 
Published: October 2023

Abstract
Maternal immunity impacts the infant, but how is unclear. To understand the implications of the immune exposures of vaccination and infection in pregnancy for neonatal immunity, we evaluated antibody functions in paired peripheral maternal and cord blood. We compared those who in pregnancy received mRNA coronavirus disease 2019 (COVID-19) vaccine, were infected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and the combination. We found that vaccination enriched a subset of neutralizing activities and Fc effector functions that was driven by IgG1 and was minimally impacted by antibody glycosylation in maternal blood. In paired cord blood, maternal vaccination also enhanced IgG1. However, Fc effector functions compared to neutralizing activities were preferentially transferred. Moreover, changes in IgG posttranslational glycosylation contributed more to cord than peripheral maternal blood antibody functional potency. These differences were enhanced with the combination of vaccination and infection as compared to either alone. Thus, Fc effector functions and antibody glycosylation highlight underexplored maternal opportunities to safeguard newborns.
Taking ideas and words seriously: explaining the institutionalization of the Lancang-Mekong cooperation
Authors: Gong Xue , Li Mingjiang 
Published: October 2023

Abstract
This article explores the role of China’s ideational and discursive power in shaping the interest perceptions of target states and in determining the formation of a new institution. Using the Lancang-Mekong Cooperation (LMC) as a case study, this article illustrates how China framed the idea of institutionalization, and how such idea was proposed, articulated, deliberated, and accepted in the interactions with partner countries. Relying on a collection and coding of over 700 Chinese official texts on the LMC and extensive interviews, we analyze how the Chinese authorities have used ideas and discourses to garner support from states in the Mekong region for the establishment of the institution. This article demonstrates that China’s ideational and discursive power helps generate three outcomes: preference denying, preference cultivating, and preference empowering. Such Chinese power has helped align Mekong countries’ interest perceptions with China’s expectations in three ways: transforming water security into developmental issues, accepting Chinese proposals through tactical persuasion, and constraining alternative policies.
Physical modeling of complex lithofacies volcanic edifices and seismic characteristics
Authors: Zhang Da , Qi Yinghan , Xing Tingdong , Guo Zhiqi , Cao Lei 
Published: October 2023

Abstract
The Songnan fault basin contains a significant distribution of basaltic volcanic rock structures, and serves as one of the primary types of reservoir in the area. Volcanic formations exhibit notable distinctions when compared to conventional oil and gas reservoirs, and the precise seismic response mechanism of these formations remains uncertain. Hence, it is imperative to investigate the seismic response mechanism of volcanic formations to enhance the geophysical characterization capability of oil and gas reservoirs composed of igneous rock. The seismic physical simulation model method is used to obtain dependable data for investigating the seismic response mechanisms of volcanic structures. This is achieved by constructing intricate physical models of rocks and volcanic structures. Our team focused on the development of materials and processes for accurately modeling various rock and volcanic structures, and we successfully designed and produced a three-dimensional physical model representing volcanic structures in the Chaganhua area. Furthermore, we conducted thorough data acquisition and analysis to examine the seismic response characteristics and sensitive properties of different geological bodies. We improved the accuracy of identifying different lithofacies of volcanic rocks by extracting different seismic attributes. This study presents a reliable approach for elucidating the seismic response mechanism of intricate rock and volcanic formations. It can also serve as a valuable resource for processing and interpreting seismic data in the specific study region. The conclusion that weak seismic reflection signals in volcanic rocks are effective signals rather than noise could be more conducive to accurate analysis and description of volcanic structures.