bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development and validation of a questionnaire measuring knowledge, attitudes, and current practices of primary healthcare physicians regarding road injury prevention in older adults
Authors: Jiménez-Mejías Eladio , Rivera-Izquierdo Mario , Miguel Martín-delosReyes Luis , Martínez-Ruiz Virginia , Molina-Soberanes Daniel , Rosa Sánchez-Pérez María , Lardelli-Claret Pablo 
Published: November 2021

Abstract

Background
Older adults present high risk of involvement in road crashes. Preventive interventions conducted by their primary healthcare physicians (PHPC) could reduce this public health issue.

Objective
The objective of this study was to design and validate a self-administered questionnaire that measures the knowledge, attitudes, and current practices (CP) of PHCP in Spain regarding the prevention of road injuries in older adults.

Methods
One thousand eight hundred and ninety-seven PHCP completed a questionnaire piloted previously in an expert panel and two convenience samples of physicians. It comprised 78 items grouped in five sections and was mainly focused on exploring three constructs: knowledge, attitudes, and CP. Exploratory factor analysis was used to obtain evidence of internal structure validity. Reliability was assessed through Cronbach’s α coefficient. Correlation coefficients for the scores constructed for each of the extracted factors were calculated to assess convergent and discriminant validity.

Results
Factor analysis extracted four factors each for the knowledge and attitudes constructs, and three factors for the CP construct, which explained more than 55% of the variance in each construct. Except for two factors of the knowledge construct regarding existing health problems associated to the risk of involvement in road crashes, the clustering pattern of all other items across the remaining nine factors was consistent and in agreement with previous knowledge. Cronbach’s α values were greater than 0.7 for all constructs.

Conclusions
Our questionnaire appears to be valid enough to assess the attitudes, CP, and medication-related knowledge of PHCP in Spain regarding the prevention of road injuries in older adults.
BiallelicANKS6mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation
Authors: Schwarz Hannah , Popp Bernt , Airik Rannar , Torabi Nasrin , Knaup Karl X , Stoeckert Johanna , Wiech Thorsten , Amann Kerstin , Reis André , Schiffer Mario , Wiesener Michael S , Schueler Markus 
Published: November 2021

AbstractNephronophthisis-related ciliopathies (NPHP-RC) comprises a group of inherited kidney diseases, caused by mutations in genes encoding proteins localizing to primary cilia. NPHP-RC represents one of the most frequent monogenic causes of renal failure within the first three decades of life, but its molecular disease mechanisms remain unclear. Here, we identified biallelic ANKS6 mutations in two affected siblings with late-onset chronic kidney disease by whole-exome sequencing. We employed patient-derived fibroblasts generating an in vitro model to study the precise biological impact of distinct human ANKS6 mutations, completed by immunohistochemistry studies on renal biopsy samples. Functional studies using patient-derived cells showed an impaired integrity of the ciliary inversin compartment with reduced cilia length. Further analyses demonstrated that ANKS6 deficiency leads to a dysregulation of Hippo-signaling through nuclear yes-associated protein (YAP) imbalance and disrupted ciliary localization of YAP. In addition, an altered transcriptional activity of canonical Wnt target genes and altered expression of non-phosphorylated (active) β-catenin and phosphorylated glycogen synthase kinase 3β were observed. Upon ciliation, ANKS6 deficiency revealed a deranged subcellular localization and expression of components of the endocytic recycling compartment. Our results demonstrate that ANKS6 plays a key role in regulating the Hippo pathway, and ANKS6 deficiency is linked to dysregulation of signaling pathways. Our study provides molecular clues in understanding pathophysiological mechanisms of NPHP-RC and may offer new therapeutic targets.
Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching
Authors: Kiriaev Leonit , Houweling Peter J , North Kathryn N , Head Stewart I 
Published: November 2021

Abstract
The common null polymorphism (R577X) in the ACTN3 gene is present in over 1.5 billion people worldwide and results in the absence of the protein α-actinin-3 from the Z-discs of fast-twitch skeletal muscle fibres. We have previously reported that this polymorphism is a modifier of dystrophin-deficient Duchenne Muscular Dystrophy. To investigate the mechanism underlying this, we use a double knockout (dk)Actn3KO/mdx (dKO) mouse model, which lacks both dystrophin and sarcomere α-actinin-3. We used dKO mice and mdx dystrophic mice at 12 months (aged) to investigate the correlation between morphological changes to the fast-twitch dKO EDL and the reduction in force deficit produced by an in vitro eccentric contraction protocol. In the aged dKO mouse, we found a marked reduction in fibre branching complexity that correlated with protection from eccentric contraction induced force deficit. Complex branches in the aged dKO EDL fibres (28%) were substantially reduced compared to aged mdx EDL fibres (68%), and this correlates with a graded force loss over three eccentric contractions for dKO muscles (~36% after first contraction, ~66% overall) compared to an abrupt drop in mdx upon the first eccentric contraction (~75% after first contraction, ~89% after three contractions). In dKO, protection from eccentric contraction damage was linked with a doubling of SERCA1 pump density the EDL. We propose that the increased oxidative metabolism of fast-twitch glycolytic fibres characteristic of the null polymorphism (R577X) and increase in SR Ca2+ pump proteins reduces muscle fibre branching and decreases susceptibility to eccentric injury in the dystrophinopathies.
Empirical research in comparative constitutional law: The cool kid on the block or all smoke and mirrors?
Authors: Petersen Niels , Chatziathanasiou Konstantin 
Published: November 2021

Abstract
In recent years, we have observed an explosion of empirical research in the field of comparative constitutional law. This contribution seeks to evaluate the current state of affairs. We analyze select studies from four different areas: the consequences of and the reasons for constitutional design choices, as well as the diffusion and the effectiveness of constitutional rights. We find that the empirical identification strategies of many of the analyzed studies have significant weaknesses, and inspire only limited confidence in their results. Nevertheless, we argue that empirical research in comparative constitutional law is of fundamental importance. It not only draws our attention to issues that would otherwise elude our view, but also gives us a chance to refine the methodology in order to develop better strategies to answer some of the decisive questions preoccupying comparative constitutional law scholarship.
Birthweight, gestational age and familial confounding in sex differences in infant mortality: a matched co-twin control study of Brazilian male-female twin pairs identified by population data linkage
Authors: Calais-Ferreira Lucas , Barreto Marcos E , Mendonça Everton , Dite Gillian S , Hickey Martha , Ferreira Paulo H , Scurrah Katrina J , Hopper John L 
Published: November 2021

Abstract

Background
In infancy, males are at higher risk of dying than females. Birthweight and gestational age are potential confounders or mediators but are also familial and correlated, posing epidemiological challenges that can be addressed by studying male-female twin pairs.

Methods
We studied 28 558 male-female twin pairs born in Brazil between 2012 and 2016, by linking their birth and death records. Using a co-twin control study matched for gestational age and familial factors, we applied logistic regression with random effects (to account for paired data) to study the association between male sex and infant death, adjusting for: birthweight, within- and between-pair effects of birthweight, birth order and gestational age, including interactions. The main outcome was infant mortality (0–365 days) stratified by neonatal (early and late) and postneonatal deaths.

Results
Males were 100 g heavier and more at risk of infant death than their female co-twins before [odds ratio (OR)  = 1.28, 95% confidence interval (CI): 1.11–1.49, P = 0.001] and after (OR = 1.60, 95% CI: 1.39–1.83, P &lt;0.001) adjusting for birthweight and birth order. When adjusting for birthweight within-pair difference and mean separately, the OR attenuated to 1.40 (95% CI: 1.21–1.61, P &lt;0.001), with evidence of familial confounding (likelihood ratio test, P &lt;0.001). We found evidence of interaction (P = 0.001) between male sex and gestational age for early neonatal death.

Conclusions
After matching for gestational age and familial factors by design and controlling for birthweight and birth order, males remain at greater risk of infant death than their female co-twins. Birthweight’s role as a confounder can be partially explained by familial factors.
Strong replica symmetry for high-dimensional disordered log-concave Gibbs measures
Authors: Barbier Jean , Panchenko Dmitry , Sáenz Manuel 
Published: November 2021

Abstract
We consider a generic class of log-concave, possibly random, (Gibbs) measures. We prove the concentration of an infinite family of order parameters called multioverlaps. Because they completely parametrize the quenched Gibbs measure of the system, this implies a simple representation of the asymptotic Gibbs measures, as well as the decoupling of the variables in a strong sense. These results may prove themselves useful in several contexts. In particular in machine learning and high-dimensional inference, log-concave measures appear in convex empirical risk minimization, maximum a-posteriori inference or M-estimation. We believe that they may be applicable in establishing some type of ‘replica symmetric formulas’ for the free energy, inference or generalization error in such settings.
Neighborhood deprivation increases the risk of Post-induction cesarean delivery
Authors: Meeker Jessica R , Burris Heather H , Bai Ray , Levine Lisa D , Boland Mary Regina 
Published: November 2021

Abstract

Objective
The purpose of this study was to measure the association between neighborhood deprivation and cesarean delivery following labor induction among people delivering at term (≥37 weeks of gestation).

Materials and Methods
We conducted a retrospective cohort study of people ≥37 weeks of gestation, with a live, singleton gestation, who underwent labor induction from 2010 to 2017 at Penn Medicine. We excluded people with a prior cesarean delivery and those with missing geocoding information. Our primary exposure was a nationally validated Area Deprivation Index with scores ranging from 1 to 100 (least to most deprived). We used a generalized linear mixed model to calculate the odds of postinduction cesarean delivery among people in 4 equally-spaced levels of neighborhood deprivation. We also conducted a sensitivity analysis with residential mobility.

Results
Our cohort contained 8672 people receiving an induction at Penn Medicine. After adjustment for confounders, we found that people living in the most deprived neighborhoods were at a 29% increased risk of post–induction cesarean delivery (adjusted odds ratio = 1.29, 95% confidence interval, 1.05–1.57) compared to the least deprived. In a sensitivity analysis, including residential mobility seemed to magnify the effect sizes of the association between neighborhood deprivation and postinduction cesarean delivery, but this information was only available for a subset of people.

Conclusions
People living in neighborhoods with higher deprivation had higher odds of postinduction cesarean delivery compared to people living in less deprived neighborhoods. This work represents an important first step in understanding the impact of disadvantaged neighborhoods on adverse delivery outcomes.
Minimize makespan of permutation flowshop using pointer network
Authors: Cho Young In , Nam So Hyun , Cho Ki Young , Yoon Hee Chang , Woo Jong Hun 
Published: November 2021

ABSTRACT
During the shipbuilding process, a block assembly line suffers a bottleneck when the largest amount of material is processed. Therefore, scheduling optimization is important for the productivity. Currently, sequence of inbound products is controlled by determining the input sequence using a heuristic or metaheuristic approach. However, the metaheuristic algorithm has limitations in that the computation time increases exponentially as the number of input objects increases, and separate optimization calculations are required for every problem. Also, the heuristic such as dispatching algorithm has the limitation of the exploring the problem domain. Therefore, this study tries a reinforcement learning algorithm based on a pointer network to overcome these limitations. Reinforcement learning with pointer network is found to be suitable for permutation flowshop problem, including input-order optimization. A trained neural network is applied without re-learning, even if the number of inputs is changed. The trained model shows the meaningful results compared with the heuristic and metaheuristic algorithms in makespan and computation time. The trained model outperforms the heuristic and metaheuristic algorithms within a limited range of permutation flowshop problem.
Parents’ Experiences of Childhood Cancer During the COVID-19 Pandemic: An Australian Perspective
Authors: Davies Jenny , O’Connor Moira , Halkett Georgia K B , Kelada Lauren , Gottardo Nicholas G 
Published: November 2021

AbstractIntroductionCOVID-19 has had far-reaching impacts including changes in work, travel, social structures, education, and healthcare.ObjectiveThis study aimed to explore the experiences of parents of children receiving treatment for cancer during the COVID-19 pandemic.MethodsParents whose children were currently in treatment for childhood cancer or had completed treatment in the previous 12 months, participated in semi-structured interviews, face-to-face or via teleconferencing. Thematic analysis was used to analyze the data.ResultsThe sample consisted of 34 participants (17 fathers and 17 mothers) from all states across Australia. Median age 37.5 years (range 29–51, years, SD = 6.3). Five main themes were identified: “Welcome to the Club”; “Remote Work and Study”; “Silver Linings”; “The Loneliest Experience” with three sub-themes “Immediate Family”; “Friends”; and “Overseas Family” and “Lack of Support” with two sub-themes: “Community Support” and “Organized Support.”ConclusionThese findings revealed contrasting experiences of the impact of the COVID-19 pandemic. For parents whose children were neutropenic, the pandemic provided benefits in increased community understanding of infection control. Parents also reflected that the movement to remote work made it easier to earn an income. In contrast, some parents observed that restrictions on visitors and family intensified feelings of isolation. Parents also described how the COVID-19 reduced access to support services. These findings contribute to an understanding of the multifaceted impacts of the COVID-19 pandemic on families of children with cancer.
The chicken or the egg? A case of sympathetic staphylococcal empyema thoracis and splenic abscess
Authors: Kutywayo Kudzayi H , Thekkudan Joyce , Chowdhry Mohammed Fiyaz 
Published: November 2021

Abstract
Multicavitary abscesses are uncommon in immunocompetent individuals. Splenic abscesses being relatively uncommon with an incidence of 0.1–0.7% in quoted series [ 1]. Commonly reported cases are secondary infective endocarditis. To have both a splenic abscess and empyema concurrently is rare. We describe a case of a patient with a large left-sided empyema thoracis and concurrent splenic abscess.
Embolization of the internal maxillary artery via open retrograde superficial temporal artery approach
Authors: Miller Lauren E , Mohan Suresh , Essayed Walid I , Sukumaran Madhav , Mirshahi Shervin , Rabinov James D , Du Rose , Rettig Eleni M 
Published: November 2021

Abstract
Sentinel bleeds in head and neck cancer patients present as an ominous symptom often necessitating urgent endovascular embolization. However, this approach can be complicated in patients who have previously undergone head and neck cancer ablation and reconstruction, thus altering the standard arterial vascular supply. Herein we describe an innovative method of internal maxillary artery (IMA) access in a patient with a sentinel bleed who previously underwent proximal external carotid artery (ECA) rerouting for free flap reconstruction. The open retrograde superficial temporal artery approach for IMA embolization is minimally invasive and effective and should be considered for head and neck cancer patients at risk of hemorrhage from distal ECA branches without a proximal ECA embolization option.
Benign rib tumors: a case series from tertiary care Centre of Nepal and review of literature
Authors: Jaiswal Lokesh Shekher , Neupane Durga 
Published: November 2021

Abstract
Rib tumors are rare. They can present with wide varieties of symptoms and differentiating benign from malignant lesions is challenging. A careful history and supporting investigations can help to reach the definite diagnosis. Surgical resection is the treatment of choice with excellent prognosis. A total of four patients were operated for the management of rib tumors over a period of 5 years at our institution. All four were benign lesions and included simple bone cyst, fibrous dysplasia with aneurysmal bone cyst, aneurysmal bone cyst and enchondroma. There were three male and one female. None of them is having recurrence till now. Surgical resection is the treatment of choice for benign rib tumors as it provides diagnostic and curative treatment.
Split down the middle: studying arbuscular mycorrhizal and ectomycorrhizal symbioses using split-root assays
Authors: Kafle Arjun , Frank Hannah E R , Rose Benjamin D , Garcia Kevin 
Published: November 2021

Abstract
Most land plants symbiotically interact with soil-borne fungi to ensure nutrient acquisition and tolerance to various environmental stressors. Among these symbioses, arbuscular mycorrhizal and ectomycorrhizal associations can be found in a large proportion of plants, including many crops. Split-root assays are widely used in plant research to study local and systemic signaling responses triggered by local treatments, including nutrient availability, interaction with soil microbes, or abiotic stresses. However, split-root approaches have only been occasionally used to tackle these questions with regard to mycorrhizal symbioses. This review compiles and discusses split-root assays developed to study arbuscular mycorrhizal and ectomycorrhizal symbioses, with a particular emphasis on colonization by multiple beneficial symbionts, systemic resistance induced by mycorrhizal fungi, water and nutrient transport from fungi to colonized plants, and host photosynthate allocation from the host to fungal symbionts. In addition, we highlight how the use of split-root assays could result in a better understanding of mycorrhizal symbioses, particularly for a broader range of essential nutrients, and for multipartite interactions.
Molluskan Dorsal–Ventral Patterning Relying on BMP2/4 and Chordin Provides Insights into Spiralian Development and Evolution
Authors: Tan Sujian , Huan Pin , Liu Baozhong 
Published: November 2021

Abstract
Although a conserved mechanism relying on BMP2/4 and Chordin is suggested for animal dorsal–ventral (DV) patterning, this mechanism has not been reported in spiralians, one of the three major clades of bilaterians. Studies on limited spiralian representatives have suggested markedly diverse DV patterning mechanisms, a considerable number of which no longer deploy BMP signaling. Here, we showed that BMP2/4 and Chordin regulate DV patterning in the mollusk Lottia goshimai, which was predicted in spiralians but not previously reported. In the context of the diverse reports in spiralians, it conversely represents a relatively unusual case. We showed that BMP2/4 and Chordin coordinate to mediate signaling from the D-quadrant organizer to induce the DV axis, and Chordin relays the symmetry-breaking information from the organizer. Further investigations on L. goshimai embryos with impaired DV patterning suggested roles of BMP signaling in regulating the behavior of the blastopore and the organization of the nervous system. These findings provide insights into the evolution of animal DV patterning and the unique development mode of spiralians driven by the D-quadrant organizer.
FusionGDB 2.0: fusion gene annotation updates aided by deep learning
Authors: Kim Pora , Tan Hua , Liu Jiajia , Lee Haeseung , Jung Hyesoo , Kumar Himanshu , Zhou Xiaobo 
Published: November 2021

Abstract
A knowledgebase of the systematic functional annotation of fusion genes is critical for understanding genomic breakage context and developing therapeutic strategies. FusionGDB is a unique functional annotation database of human fusion genes and has been widely used for studies with diverse aims. In this study, we report fusion gene annotation updates aided by deep learning (FusionGDB 2.0) available at https://compbio.uth.edu/FusionGDB2/. FusionGDB 2.0 has substantial updates of contents such as up-to-date human fusion genes, fusion gene breakage tendency score with FusionAI deep learning model based on 20 kb DNA sequence around BP, investigation of overlapping between fusion breakpoints with 44 human genomic features across five cellular role's categories, transcribed chimeric sequence and following open reading frame analysis with coding potential based on deep learning approach with Ribo-seq read features, and rigorous investigation of the protein feature retention of individual fusion partner genes in the protein level. Among ∼102k fusion genes, about 15k kept their ORF as In-frames, which is two times compared to the previous version, FusionGDB. FusionGDB 2.0 will be used as the reference knowledgebase of fusion gene annotations. FusionGDB 2.0 provides eight categories of annotations and it will be helpful for diverse human genomic studies.