bluuebunny/crossref_metadata_2025_split huggingface dataset:
PSMC1 variant causes a novel neurological syndrome
Authors: Aharoni Sarit , Proskorovski‐Ohayon Regina , Krishnan Ramesh Kumar , Yogev Yuval , Wormser Ohad , Hadar Noam , Bakhrat Anna , Alshafee Ismael , Gombosh Maya , Agam Nadav , Gradstein Libe , Shorer Zamir , Zarivach Raz , Eskin‐Schwartz Marina , Abdu Uri , Birk Ohad S. 
Published: July 2022

AbstractProteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. It is composed of the 20S core particle and one or two 19S regulatory particles, composed of a base and a lid. To date, several human diseases have been associated with mutations within the 26S proteasome subunits; only one of them affects a base subunit. We now delineate an autosomal recessive syndrome of failure to thrive, severe developmental delay and intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes. None of the affected individuals achieved verbal communication or ambulation. Ventriculomegaly was evident on MRI. Homozygosity mapping combined with exome sequencing revealed a disease‐associated p.I328T PSMC1 variant. Protein modeling demonstrated that the PSMC1 variant is located at the highly conserved putative ATP binding and hydrolysis domain, and is suggested to interrupt a hydrophobic core within the protein. Fruit flies in which we silenced the Drosophila ortholog Rpt2 specifically in the eye exhibited an apparent phenotype that was highly rescued by the human wild‐type PSMC1, yet only partly by the mutant PSMC1, proving the functional effect of the p.I328T disease‐causing variant.
Toward a synthesis of the board‐strategy relationship: A literature review and future research agenda
Authors: Bezemer Pieter‐Jan , Pugliese Amedeo , Nicholson Gavin , Zattoni Alessandro 
Published: July 2022

AbstractResearch Question/IssueThe strategy role of the board of directors is a contentious topic in both theory and practice and the debate on what boards should or should not do around firm strategy has intensified with changes in global corporate governance. Boards face interventionist regulatory developments, calls for changes in their composition, growing owner engagement, and societal questioning on the corporation's very purpose. With this review, we aim to assess how the research agenda in this area has evolved with these developments.Research Findings/ResultsOur analysis of 152 articles published in 45 high‐quality journals between 2008 and 2020 reveals that the board‐strategy literature remains dominated by traditional input–output approaches using archival data. There are, however, some green shoots opening up the debate by recognizing the importance of the firm's specific context, applying alternative or complementary theoretical lenses, exploring the underlying dynamics and processes, and using more sophisticated modeling techniques.Theoretical implicationsWe identify three research directions with the potential to advance the research agenda, namely, untangling the complex, multilevel interplay between stakeholders involved in the strategy process, embracing the processual and temporal nature of the board‐strategy relationship, and unpacking the impact of social context to understand when boards matter for strategy.Practical implicationsOur results indicate that the strategy role of the board is evolving and broadening. Most notably the integration of CSR‐related themes into the board‐strategy debate, and the leveraging of board diversity in strategic decision‐making appear to be important issues for contemporary boards.
Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant‐reported outcome measures
Authors: Andrade Keysy K. S. , Soares Luana A. , Macedo Caik C. , Bispo Nelcilaine R. , Sousa Junior Ricardo R. , Oliveira Vinícius C. , Leite Hércules R. , Gaiad Thaís P. 
Published: July 2022

AbstractAimTo identify the standardized assessment scales for people with muscular dystrophy and investigate the quality/level of evidence of their measurement properties.MethodA systematic review of patient‐reported outcome measures was conducted on the MEDLINE, Embase, AMED, DiTA, and PsycINFO databases in August 2020. We included psychometric studies that investigated the validity, reliability, and responsiveness of instruments assessing activity and participation for muscular dystrophy of any type (Duchenne, Becker, limb‐girdle, facioscapulohumeral, congenital, and myotonic) or age. Two independent reviewers selected the studies, extracted data, and evaluated the instruments' quality and level of evidence following the COnsensus‐based Standards for the selection of health status Measurement INstruments (COSMIN) checklist. The study followed the Preferred Reporting Items for Systematic reviews and Meta‐Analysis (PRISMA) 2020 guidelines.ResultsThe searches identified 6675 references; a total of 46 studies with 28 condition‐specific or general instruments were included. The measurement properties of most instruments had sufficient (68.8%) or indeterminate (25.7%) results according to COSMIN. The quality of evidence of the measurement properties was moderate (23.8%) or low (22.6%) according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE).InterpretationThere is a lack of high‐quality instruments whose psychometric properties are adequately measured. The highest quality instrument is the Muscular Dystrophy Functional Rating Scale. The Motor Function Measure (general instrument), Duchenne Muscular Dystrophy Upper‐limb Patient‐reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use (specific) are also recommended.What this paper adds

There are 28 available instruments for activity and participation of people with muscular dystrophy.
The evidence quality is moderate or low because of imprecision and indirectness.
The Muscular Dystrophy Functional Rating Scale is the highest quality instrument.
The Motor Function Measure is the second most recommended instrument.
The Duchenne Muscular Dystrophy Upper‐limb Patient‐reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use are also recommended.
Black Support of Neoliberal School Choice and the Politics of Black Democratic Empowerment
Authors: Wheeler‐Bell Quentin 
Published: July 2022

AbstractIn Market Movements, Tom Pedroni argues that educational progressives often analyze neoliberal school choice policies by highlighting the negative impact such policies have upon Blacks. Implicit in this approach is the assumption that all Blacks should oppose neoliberalism. This assumption prevents scholars from investigating why African Americans increasingly do support neoliberal choice policies. Deep disagreements exist within the African American community over why Blacks are oppressed and how to understand their oppression, the nature of their disadvantages, and the remedies to such problems. And these disagreements affect why Blacks might support neoliberal school choice policies. In this paper, Quentin Wheeler‐Bell goes beyond explaining why deep disagreements exist within the Black public sphere and develops a critical theory of Black democratic empowerment. First, he provides a brief sociohistorical analysis of racial oppression, highlighting how domination has distorted and repressed debates within the Black public sphere, thus lending support to neoliberal choice policies. Second, he recovers and reconstructs four Black philosophical perspectives — (1) disillusioned Black liberals, (2) modern Black nationalists, (3) Black Marxists, and (4) Black egalitarians — and explains if and how they might be pulled into an alliance with neoliberal policies. Finally, he develops a critical theory of Black democratic empowerment that captures the reasonable insights from the abovementioned perspectives while avoiding the perils of neoliberal school choice.
The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
Authors: Chen Yong‐Ping , Yu Shi‐Hui , Zhang Guo‐Hui , Hou Yan‐Bing , Gu Xiao‐Jing , Ou Ru‐Wei , Shen Ying , Song Wei , Chen Xue‐Ping , Zhao Bi , Cao Bei , Zhang Ling‐Yu , Sun Ming‐Ming , Liu Fei‐Fei , Wei Qian‐Qian , Liu Kun‐Cheng , Lin Jun‐Yu , Yang Tian‐Mi , Yang Jing , Wu Ying , Jiang Zheng , Liu Jiao , Cheng Yang‐Fan , Xiao Yi , Su Wei‐Ming , Feng Fei , Cai Ying‐Ying , Li Shi‐Rong , Hu Tao , Yuan Xiao‐Qin , Zhou Qing‐Qing , Shao Na , Ma Sha , Shang Hui‐Fang 
Published: July 2022

AbstractBackground and purposeRecent genetic progress has shown many causative/risk genes linked to Parkinson's disease (PD), mainly in patients of European ancestry. The study aimed to investigate the PD‐related genes and determine the mutational spectrum of early‐onset PD in ethnic Chinese.MethodsIn this study, whole‐exome sequencing and/or gene dosage analysis were performed in 704 early‐onset PD (EOPD) patients (onset age ≤45 years) and 1866 controls. Twenty‐six PD‐related genes and 20 other genes linked to neurodegenerative and lysosome diseases were analysed.ResultsEighty‐two (11.6%, 82/704) EOPD patients carrying rare pathogenic/likely pathogenic variants in PD‐related genes were identified. The mutation frequency in autosomal recessive inheritance EOPD (42.9%, 27/63) was much higher than that in autosomal dominant inheritance EOPD (0.9%, 12/110) or sporadic EOPD (8.1%, 43/531). Bi‐allelic mutations in PRKN were the most frequent, accounting for 5.1% of EOPD cases. Three common pathogenic variants, p.A53V in SNCA, p.G284R in PRKN and p.P53Afs*38 in CHCHD2, occur exclusively in Asians. The putative damaging variants from GBA, PRKN, DJ1, PLA2G6 and GCH1 contributed to the collective risk for EOPD. Notably, the protein‐truncating variants in CHCHD2 were enriched in EOPD, especially for p.P53Afs*38, which was also found in three patients from an independent cohort of patients with late‐onset PD (n = 1300). Functional experiments confirmed that truncated CHCHD2 variants cause loss of function and are linked to mitochondrial dysfunction.ConclusionsOur study reveals that the genetic spectrum of EOPD in Chinese, which may help develop genetic scanning strategies, provided more evidence supporting CHCHD2 in PD.
Phylogeography of Chinese cereal cyst nematodes sheds lights on their origin and dispersal
Authors: Qing Xue , Peng Huan , Ma Jukui , Zhang Yuanmeng M. , Li Hongmei , Peng Deliang , Wang Xuan , Long Tengwen 
Published: July 2022

AbstractReconstructing the dispersal routes of pathogens can help identify the key drivers of their evolution and provides a basis for disease control. The cereal cyst nematode Heterodera avenae is one of the major nematode pests on cereals that can cause 10%–90% crop yield losses worldwide. Through extensive sampling on wheat and grasses, the Chinese population of H. avenae is widely identified in virtually all wheat growing regions in China, with H1 being the predominant haplotype. The monoculture of wheat in north China might have been the key driver for the prevalence of H1 population, which should date no earlier than the Han Dynasty (202 BCE–220 CE). Molecular phylogenetic and biogeographic analyses of Chinese H. avenae suggest a Pleistocene northwest China origin and an ancestral host of grasses. We assume that the prosperity of Heterodera in this region is a result of their preference for cooler climate and various grass hosts, which only appeared after the uplift of Qinghai‐Tibetan Plateau and aridification of Inner Asia. Nematode samples from the current and historical floodplains show a significant role of the Yellow River in the distribution of Chinese H. avenae. Whereas mechanical harvesters that operate on an inter‐provincial basis suggest the importance in the transmission of this species in eastern China in recent times. This study highlights the role of environmental change, river dynamics, and anthropogenic factors in the origin and long‐distance dissemination of pathogens.
Comparison and predictors of chronic migraine vs. new daily persistent headache presenting with a chronic migraine phenotype
Authors: Nagaraj Karthik , Wei Diana Y. , Puledda Francesca , Weng Hsing‐Yu , Waheed Sadaf , Vandenbussche Nicolas , Ong Jonathan J. Y. , Goadsby Peter J. 
Published: July 2022

AbstractObjectiveTo compare the clinical phenotype of patients with chronic migraine (CM) to patients with new daily persistent headache of the chronic migraine subtype (NDPH‐CM).MethodsA study was conducted of CM (n = 257) and NDPH‐CM (n = 76) from a tertiary headache center in the UK, and in the US of patients with daily CM (n = 60) and NDPH‐CM (n = 22).ResultsFrom the UK cohort, the age of first headache onset was lower in CM (mean ± SD: 16 ± 12 years) than in NDPH‐CM (mean ± SD: 23 ± 14 years; p < 0.001). There was a greater number of associated migrainous symptoms in CM compared to NDPH‐CM (median and interquartile range: 6, 5–8 vs. 5, 4–7; p < 0.001). A family history of headache was more common in CM compared to NDPH‐CM (82%, 202/248, vs. 53%, 31/59; p < 0.001). In the US cohort there were no differences. Osmophobia (B = −1.08; p = 0.002) and older age at presentation to the clinic (B = −0.06; p = 0.001) were negative predictors of NDPH‐CM.ConclusionNDPH‐CM is relatively less migrainous than CM in the UK cohort. Family history of headache is less common in NDPH‐CM, with negative predictors for NDPH‐CM including osmophobia and older age of presentation to the clinic. More work is required to understand the chronic migraine phenotype of new daily persistent headache.
Risk factors, prevention and treatment of hypoglycaemia after hyperkalaemia in adult patients using intravenous insulin: An integrative review
Authors: Long Dionna Shiying , Kelly Michelle A. , Lim Siew Hoon 
Published: July 2022

AbstractAimAn integrative review was conducted to synthesize published evidence on the prevention and treatment of hypoglycaemia and patient risk factors, in adult patients treated for hyperkalaemia with intravenous insulin and dextrose.MethodsThis review followed the framework by Whittemore and Knafl. Papers included were limited to English language studies involving participants who were aged 18 years and above and admitted in the inpatient acute care and emergency departments. The literature search was performed using five electronic databases (CINAHL, Embase, PubMed, Proquest and Cochrane).ResultsA total of 22 studies were included. Two main themes were derived—patient risk factors and prevention–intervention strategies. Five main patient risk factors were lower pretreatment blood glucose (<7 mmol/L), lower weight, renal insufficiencies, older age and nondiabetic. The four subthemes in the prevention–intervention strategies included (i) methods of administration and dosing of intravenous insulin and dextrose, (ii) frequency of blood glucose monitoring, (iii) education to healthcare professionals and (iv) rescue agents.ConclusionsStandardized computerized order sets and integrated decision tool that can advise appropriate prescription of a higher volume of dextrose or lower insulin dose according to patient risk factors, regular monitoring and reinforced education may prevent and mitigate the risk of hypoglycaemia.
CYP4G100 contributes to desiccation resistance by mediating cuticular hydrocarbon synthesis in Bactrocera dorsalis
Authors: Jing Tian‐Xing , Yuan Chen‐Yang , Meng Li‐Wei , Hou Qiu‐Li , Liu Xiao‐Qiang , Dou Wei , Yuan Guo‐Rui , Wang Jin‐Jun 
Published: July 2022

AbstractThe oriental fruit fly Bactrocera dorsalis (Hendel) is expanding its distribution to higher latitudes. Our goal in this study was to understand how B. dorsalis adapts to higher latitude environments that are more arid than tropical regions. Cuticular hydrocarbons (CHCs) on the surface of the epicuticle in insects act as a hydrophobic barrier against water loss. The essential decarbonylation reaction in CHC synthesis is catalysed by CYP4G, a cytochrome P450 subfamily protein. Hence, in B. dorsalis it is necessary to clarify the function of the CYP4G gene and its role in desiccation resistance. CYP4G100 was identified in the B. dorsalis genome. The complete open reading frame (ORF) encodes a CYP4 family protein (552 amino acid residues) that has the CYP4G‐specific insertion. This CYP4G gene was highly expressed in adults, especially in the oenocyte‐rich peripheral fat body. The gene can be induced by desiccation treatment, suggesting its role in CHC synthesis and waterproofing. Silencing of CYP4G100 resulted in a decrease of CHC levels and the accumulation of triglycerides. It also increased water loss and resulted in higher desiccation susceptibility. CYP4G100 is involved in hydrocarbon synthesis and contributes to cuticle waterproofing to help B. dorsalis resist desiccation in arid environments.
Feasibility of PURPOSE T in clinical practice and patient participation–A mixed‐method study
Authors: Hultin Lisa , Karlsson Ann‐Christin , Löwenmark Malin , Coleman Susanne , Gunningberg Lena 
Published: July 2022

AbstractThis study aimed to evaluate the feasibility of implementing an electronic version of PURPOSE T, a risk assessment instrument for pressure ulcers, in a Swedish hospital ward. A mixed‐method was used. Nursing staff received training in PURPOSE T and a record review was performed (n = 30). PURPOSE T replaced the Modified Norton Scale, and after one month another record review was performed (n = 30). Individual interviews with patients (n = 15) and focus group interviews with nursing staff (n = 23) were performed after the implementation. The results of the record review and the focus group interviews showed good clinical feasibility of PURPOSE T. The record review showed that more patients were at risk of developing pressure ulcers and more nursing interventions were prescribed with PURPOSE T compared to the Modified Norton Scale. The focus group interviews showed that all nursing staff were satisfied with PURPOSE T. The instrument contributed to increased reflection and analysis as well as the opportunity for nursing staff to draw their own conclusions regarding patients´ risk status. The documentation encouraged the prescription of more preventive actions, and the nurses were more involved at bedside. However, almost all the patients expressed not receiving any information about pressure ulcers.
A SARS-CoV-2 oral vaccine development strategy based on the attenuated Salmonella type III secretion system
Authors: Wu Leyang , Li Lin , Yin Xingpeng , Li Chenyang , Xin Wenjie , Liu Lina , Hua Zichun 
Published: July 2022

Abstract

Aims
This study aimed to provide a safe, stable and efficient SARS-CoV-2 oral vaccine development strategy based on the type III secretion system of attenuated Salmonella and a reference for the development of a SARS-CoV-2 vaccine.

Methods and Results
The attenuated Salmonella mutant ΔhtrA-VNP was used as a vector to secrete the antigen SARS-CoV-2 based on the type III secretion system (T3SS). The Salmonella pathogenicity island 2 (SPI-2)-encoded T3SS promoter (sifB) was screened to express heterologous antigens (RBD, NTD, S2), and the SPI-2-encoded secretion system (sseJ) was employed to secrete this molecule (psifB-sseJ-antigen, abbreviated BJ-antigen). Both immunoblotting and fluorescence microscopy revealed effective expression and secretion of the antigen into the cytosol of macrophages in vitro. The mixture of the three strains (BJ-RBD/NTD/S2, named AisVax) elicited a marked increase in the induction of IgA or IgG S-protein Abs after oral gavage, intraperitoneal and subcutaneous administration. Flow cytometric analysis proved that AisVax caused T-cell activation, as shown by a significant increase in CD44 and CD69 expression. Significant production of IgA or IgG N-protein Abs was also detected by using psifB-sseJ-N(FL), indicating the universality of this strategy.

Conclusions
Delivery of multiple SARS-CoV-2 antigens using the type III secretion system of attenuated Salmonella ΔhtrA-VNP is a potential COVID-19 vaccine strategy.

Significance and Impact of the Study
The attenuated Salmonella strain ΔhtrA-VNP showed excellent performance as a vaccine vector. The Salmonella SPI-2-encoded T3SS showed highly efficient delivery of SARS-COV-2 antigens. Anti-loss elements integrated into the plasmid stabilized the phenotype of the vaccine strain. Mixed administration of antigen-expressing strains improved antibody induction.
Genetic and environmental drivers of colour and pattern in the Australian jacky dragon (Amphibolurus muricatus)
Authors: Raynal Rebecca S. , Schwanz Lisa E. , Riley Julia L. , Umbers Kate D. L. 
Published: July 2022

AbstractThe underlying drivers of variation in the colouration (colour and pattern) of animals can be genetic, non‐genetic, or more likely, a combination of both. Understanding the role of heritable genetic elements, as well as non‐genetic factors such as age, habitat or temperature, in shaping colouration can provide insight into the evolution and function of these traits, as well as the speed of response to changing environments. This project examined the genetic and non‐genetic drivers of continuous variation in colouration in a lizard, the jacky dragon (Amphibolurus muricatus). We leveraged a large captive experiment that manipulated parental and offspring thermal environment to simultaneously estimate the genetic and non‐genetic drivers of variation in colouration. We found that the overall brightness, the elongation of the longitudinal stripes on the dorsum and the contrast between light and dark patches of the pattern were all heritable. Colouration varied according to the age of the hatchling; however, the thermal environment of neither the parents nor offspring contributed significantly to colouration. It appears that developmental plasticity and maternal effects associated with temperature are not important drivers of variation in our measures of colouration.
Does greater police funding help catch more murderers?
Authors: Bjerk David 
Published: July 2022

AbstractThis paper examines the impact of police funding on the fraction of homicides that are cleared by arrest. Using data covering homicides in approximately 50 of the largest US cities from 2007 to 2017, I find no evidence that greater police funding resulted in higher homicide clearance rates. This finding is robust to linear regression and instrumental variable approaches, different ways to measure police budgets, and across victims of different races and in different types of neighborhoods. In summary, the way large city police departments have historically spent their funds, more funding has not helped catch more murderers.