bluuebunny/crossref_metadata_2025 huggingface dataset:
Biochemical and Hematologic Profiles in B-Cell Acute Lymphoblastic Leukemia Children
Authors: Khalid Ammara , Ahmed Mehboob , Hasnain Shahida
Published: August 2023

B-cell acute lymphoblastic leukemia is the most common type of leukemia found in children. Timely diagnosis, white blood cell count, age of onset, and sex are considered the most important prognostic factors in childhood leukemia. Hematological and biochemical profiles are crucially important to infer the health of leukemia patient pre-chemotherapy and post-chemotherapy treatment. In the current study 200 cases were taken and evaluated for hematological (complete blood count and white blood differential count) and biochemical parameters (renal function tests, liver function tests, serum electrolytes and serum proteins) by comparison with normal reference values. Most of the cases were male under 5 years of age. Hematology parameters including red blood cells, hemoglobin and platelet levels were relatively low whereas white blood cells level was high in cases as compared with normal reference value. Sex-wise and age-wise comparison of biochemical profile showed significant difference among B-cell acute lymphoblastic leukemia cases whereas hematological profile did not show any visible difference.
Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy
Authors: Gehle Stephanie , Quinsey Carolyn , McShane Diana , Thompson Patrick , Quezada Gerardo
Published: August 2023

Background:

Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease with visceral involvement carries a poor prognosis. Few cases of multicentric disease with central nervous system (CNS) involvement have been reported, and none report survival.

Observations:

We present a newborn with multicentric IM with cutaneous, visceral, and CNS involvement. She was treated with vinblastine, methotrexate, and the novel addition of intrathecal methotrexate with treatment response after 1 year of therapy.

Conclusions:

Multicentric IM with CNS involvement can be successfully treated with a multimodal approach of chemotherapy with the addition of intrathecal methotrexate and surgery.
Outcomes of Care-bundle Implementation for Children With Cancer and Suspected Bloodstream Infection in a Pediatric Oncology Unit in a Resource-limited Setting
Authors: Escobedo-Melendez Griselda , Paniagua-Padilla Jenny , Caniza Miguela A.
Published: August 2023

Bloodstream infections (BSIs) are a major cause of mortality among pediatric oncology patients in resource-limited settings. Effective, innovative strategies are needed to improve care and survival. In a pediatric oncology unit in Mexico, we retrospectively analyzed the risk factors for mortality related to BSI and the results of using a care-bundle intervention. The care-bundle consisted of a swift clinical evaluation, initial fluid-resuscitation support, obtaining blood cultures, and administration of effective empirical antibiotic therapy for suspected BSI. The outcomes of patients who received the care-bundle during a 12-month period were compared with those of patients treated with standard care during the 12 months preceding its implementation. The primary outcomes were BSI diagnosis, choice of antibiotics, and mortality. Of the 261 suspected BSIs treated with standard care, 33 (12.6%) infections were confirmed, and of the 308 treated with the care-bundle, 67 (21.7%) BSIs were confirmed. Thus, after implementation of the care-bundle, significantly more BSIs were diagnosed (P=0.004), and BSI-related mortality was significantly reduced by 22.2% (P = 0.035). Surgical resection and mechanical ventilation support were independently associated with BSI-related mortality, and receiving effective initial empirical antibiotic therapy was protective against mortality (odds ratio, 0.013; 95% CI: 0.002-0.105; P=0.001), which comprising cefepime plus amikacin or meropenem in 44 (80.0%) of the cases alive. Consistent use of a care-bundle with initial fluid resuscitation, obtaining a blood culture, and administering effective antibiotics to children with cancer and suspected BSI can decrease mortality.
Drivers of Differential Time to Diagnosis in Pediatric ALL Tied to Race and Ethnicity
Authors: Davitt Meghan , Gennarini Lisa , Loeb David M. , Hosgood H. Dean
Published: August 2023

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, with diagnosis preceded by symptoms that may include fever, weight loss, fatigue, bleeding, and bruising. Timely diagnosis and treatment of ALL may lead to improved outcomes and reduced morbidity from associated complications, including tumor lysis syndrome, hyperviscosity, and stroke. We performed a retrospective cohort analysis of 274 pediatric pre-B cell ALL and acute lymphoblastic lymphoma patients within Montefiore Health System to determine whether there were factors associated with time from symptom onset to diagnosis. The median time to diagnosis for all patients was 11.5 days (interquartile range: 7.8, 14.3). Those with Medicaid insurance (n=189) were diagnosed sooner than those with private/self-pay insurance (n=85) (median of 10 vs. 16 days; P=0.05). English and other language speakers experienced fewer median days from symptom onset to diagnosis date compared with Spanish speakers (11 vs. 7 vs. 14; P=0.05). Insurance status may impact the time to diagnosis to a greater degree in non-Hispanic patients, while the English language and female sex may represent a greater advantage to Hispanic patients. Insurance status and language preference may impact the time to diagnosis of pediatric ALL. There is a further need to confirm our findings and to study possible causes driving these disparities.
Sarcopenia in Children With Wilms Tumor: A Marker of Undernutrition Which May Impact Adversely on Clinical Outcomes
Authors: de Oliveira Wilson E. , Murra Mariana S. , Tufi Leticia M.B. , Cavalcante Carlos E.B. , de Oliveira Marco A. , da Costa Ricardo F.A. , Rosa Bianca R. , da Silva Roberta Z.M. , Ribeiro Rodrigo C. , Ladas Elena J. , Barr Ronald D.
Published: August 2023

The therapeutic approach to Wilms tumor (WT) is multidisciplinary and leads to significant patient impairment, increasing the risk of nutritional compromise and malnutrition. Children with cancer are vulnerable to sarcopenia which has been recognized as a negative impact of anticancer therapy. Recent studies have highlighted the reduction in the total psoas muscle area (TPMA) to be associated with a poor prognosis in many pediatric diseases, including cancer. This study aims to evaluate changes in the TPMA compartment during the treatment of children with WT. An observational, longitudinal, and retrospective study was undertaken in a single institution evaluating children (1 to 14 y, n=38) with WT between 2014 and 2020. TPMA was assessed by the analysis of previously collected, electronically stored computed tomography images of the abdomen obtained at 3 time points: diagnosis, preoperatively, and 1 year after surgery. For all patients, TPMA/age were calculated with a specific online calculator. Our data show a high incidence of sarcopenia (55.3%) at diagnosis which increased after 4 to 6 weeks of neoadjuvant chemotherapy (73.7%) and remained high (78.9%) 1 year after the surgical procedure. Using TPMA/age Z-score curves we have found significant and rapid muscle loss in children with WT, with little or no recovery in the study period.
Treosulfan Versus Busulfan-based Conditioning in Pediatric Patients Undergoing Hematopoietic Stem Cell Transplantation: A Systematic Review and Meta-analysis
Authors: Wu Wanliang , Xue Ning , Yang Hanfang , Gao Pan , Guo Jing , Han Danyang
Published: August 2023

It is unclear whether there is a difference in outcomes with treosulfan or busulfan-based conditioning in pediatric patients undergoing hematopoietic stem cell transplantation (HSCT). We reviewed the evidence on this topic through a systematic review and meta-analysis, the comparison between treosulfan and busulfan-based conditioning in pediatric patients undergoing HSCT for instance. Six studies were included. Meta-analysis showed that there was no difference in the incidence of acute graft versus host disease (odds ratio [OR]: 0.96; 95% CI: 0.57, 1.61), grade II to IV acute graft versus host disease (OR: 1.19; 95% CI: 0.83, 1.72), chronic GVHD (OR: 1.18; 95% CI: 0.70, 2.00), and veno-occlusive disease (OR: 0.92; 95% CI: 0.22, 3.85) between treosulfan and busulfan groups. Pooled analysis indicated marginally better survival with treosulfan-based conditioning (OR: 1.57; 95% CI: 1.00, 2.44), however, these results were unstable on sensitivity analysis. A meta-analysis found no difference in transplant-related mortality (OR: 0.70; 95% CI: 0.34, 1.42) between the two groups. Retrospective data from a heterogenous population indicates that there is no difference in the rate of GVHD after treosulfan versus busulfan-based conditioning for pediatric HSCT. A marginal improvement in survival was noted with treosulfan but the results remained unstable. Future randomized controlled trials are needed to provide better evidence.
A Rapid Review of Uses and Outcomes of Telehealth Care in Rural and Remote Regions in the United States
Authors: Fasolino Tracy , Koci Anne , Huggins Jennifer , Lindell Kathleen
Published: August 2023

As telehealth expands and becomes an increasingly important provision of palliative care and hospice services, the understanding of the uses and outcomes of this care delivery platform in rural communities is warranted. This rapid review aims to highlight the practice, policy, and research implications of telehealth in rural regions. Using a systematic approach for accessing and synthesizing available publications, this review included 22 articles published between January 2020 and January 2023. Telehealth was used with adult and pediatric populations diagnosed with serious illnesses. Acceptance of this type of care delivery was noted in adults and children, but not all found telehealth a valuable mechanism for care. Telehealth services included but were not limited to direct communication between the provider and the patient/caregiver, medication management, and a peer-to-peer consultant role for rural palliative care and hospice teams. Of those studies addressing provider-centered outcomes, noise level, interruptions, missed appointments, and challenges with providing emotional support were reported. Organizational barriers, such as the lack of financial support, were noted for pediatric hospices. Individuals living in rural communities require more frequent, immediate, and specialized attention over their illness trajectory. Practice, policy, and research implications are identified to consider the next steps for telehealth delivery of palliative care.
History Lesson
Authors: Bharani Tina , Agarwal Divyansh , Robinson Malcolm K.
Published: August 2023

History teaches us that while public health advocates can do much, a country needs well informed and courageous members of Congress to put useful public health measures into law. In the late 20th century, the work of one such individual, Congressman Joseph Moakley (D-MASS), helped to revolutionize the laws on food advertising and labeling and resulted in major gains in information for consumers. Given the recent modernization of nutrition labeling, this article attempts to highlight the initiatives led by the unsung hero of recent past, Congressman Moakley. Specifically, in the practice of nutrition, the behind-the-scenes initiatives that have helped standardize food labels and better educate the consumers to improve public health often go underrecognized. This article presents a brief overview of Moakley's contributions in these domains and identifies gaps for future works in the field of nutrition labeling.
Detection and Estimation of Age of Injuries in Fresh Bodies Using Immunohistochemistry
Authors: Ramamurthy Kokila , Sundaram Sandhya , Sivaramakrishnan Sneha , Paranthaman Sampath Kumar , Balasubramanian Archana , Pradhan Priyadarshee
Published: August 2023

A cross-sectional study of the wound age estimation from the forensic skin wound samples was performed immunohistochemically with a sample size of 40 (n = 40). The samples were segregated according to the appropriate stages of wound healing with the help of hematoxylin-eosin staining. Later, they were subjected to immunohistochemistry staining with anti–AQP3 antibody. Quantification of the expression of AQP3 in the injured and uninjured formalin-fixed skin tissues was done semiquantitatively and manually under 400× magnifications. The AQP3-positive cells were correlated with the duration of injury, and the results were statistically analyzed. More AQP3 expressions were found in the proliferative phase than the inflammatory and maturation phase of wound healing. Neither the diversity in age group nor the sex differentiation showed any specific correlation with the expression of keratinocytic aquaporin cells. Likewise, parameters such as the type of injury, mode of injury, and the postmortem interval also did not show any significant relationship with the expression of the aquaporin positivity. Thus, it is revealed that skin wounds between 5 and 10 days expressed aquaporin cell numbers of more than 300. Hence AQP3 estimation helps in determining the time since injury with a more accuracy.
The making of a naturalist in Manchuria: Arthur de Carle Sowerby, 1885–1922
Authors: Luk Christine Y. L.
Published: August 2023

This article examines the professional identity-building of Arthur de Carle Sowerby (1885–1954), a China-born explorer of Anglo descent who was a versatile hunter-sportsman aspiring to become a naturalist. Existing work on Sowerby acknowledges his role as the founder of the
China Journal of Science and Arts
and as president of the North China Branch of the Royal Asiatic Society in Shanghai; yet his pre-Shanghai life and career prior to 1922 has received scant scholarly attention. Between 1907 and 1922, Sowerby joined several expeditions exploring the terrain and collecting animal specimens in the Manchurian and Sino-Mongolian borderland before taking up residence in Shanghai in 1923 until his departure from China in 1946. Sowerby's zoological expedition in Manchuria is discussed as a backdrop against which his subsequent Shanghai career is portrayed. Sowerby's roles as an explorer and fieldworker have not been subject to independent examination. I argue that the making of Sowerby's naturalist identity reflects a career route for amateur practitioners to build a scientific identity via expeditionary fieldwork, writing natural history for popular audiences and curating biological specimens in early twentieth-century China.
Mapping the phylogeny and lineage history of geographically distinct BCG vaccine strains
Authors: Elton Linzy , Kasaragod Sandeep , Donoghue Helen , Safar Hussain A. , Amankwah Priscilla , Zumla Alimuddin , Witney Adam A. , McHugh Timothy D.
Published: August 2023

The bacillus Calmette–Guérin (BCG) vaccine has been in use for prevention of tuberculosis for over a century. It remains the only widely available tuberculosis vaccine and its protective efficacy has varied across geographical regions. Since it was developed, the BCG vaccine strain has been shared across different laboratories around the world, where use of differing culture methods has resulted in genetically distinct strains over time. Whilst differing BCG vaccine efficacy around the world is well documented, and the reasons for this may be multifactorial, it has been hypothesized that genetic differences in BCG vaccine strains contribute to this variation. Isolates from an historic archive of lyophilized BCG strains were regrown, DNA was extracted and then whole-genome sequenced using Oxford Nanopore Technologies. The resulting whole-genome data were plotted on a phylogenetic tree and analysed to identify the presence or absence of regions of difference (RDs) and single-nucleotide polymorphisms (SNPs) relating to virulence, growth and cell wall structure. Of 50 strains available, 36 were revived in culture and 39 were sequenced. Morphology differed between the strains distributed before and after 1934. There was phylogenetic association amongst certain geographically classified strains, most notably BCG-Russia, BCG-Japan and BCG-Danish. RD2, RD171 and RD713 deletions were associated with late strains (seeded after 1927). When mapped to BCG-Pasteur 1172, the SNPs insigK,plaA,mmaA3andeccC5were associated with early strains. Whilst BCG-Russia, BCG-Japan and BCG-Danish showed strong geographical isolate clustering, the late strains, including BCG-Pasteur, showed more variation. A wide range of SNPs were seen within geographically classified strains, and as much intra-strain variation as between-strain variation was seen. The date of distribution from the original Pasteur laboratory (early pre-1927 or late post-1927) gave the strongest association with genetic differences in regions of difference and virulence-related SNPs, which agrees with the previous literature.
Identification of two distinct phylogenomic lineages and model strains for the understudied cystic fibrosis lung pathogen Burkholderia multivorans
Authors: Parfitt Kasia M. , Green Angharad E. , Connor Thomas R. , Neill Daniel R. , Mahenthiralingam Eshwar
Published: August 2023

Burkholderia multivorans

is the dominant

Burkholderia

pathogen recovered from lung infection in people with cystic fibrosis. However, as an understudied pathogen there are knowledge gaps in relation to its population biology, phenotypic traits and useful model strains. A phylogenomic study of

B. multivorans

was undertaken using a total of 283 genomes, of which 73 were sequenced and 49 phenotypically characterized as part of this study. Average nucleotide identity analysis (ANI) and phylogenetic alignment of core genes demonstrated that the

B. multivorans

population separated into two distinct evolutionary clades, defined as lineage 1 (n=58 genomes) and lineage 2 (n=221 genomes). To examine the population biology of

B. multivorans

, a representative subgroup of 77

B. multivorans

genomes (28 from the reference databases and the 49 novel short-read genome sequences) were selected based on multilocus sequence typing (MLST), isolation source and phylogenetic placement criteria. Comparative genomics was used to identify

B. multivorans

lineage-specific genes – ghrB_1 in lineage 1 and glnM_2 in lineage 2 – and diagnostic PCRs targeting them were successfully developed. Phenotypic analysis of 49 representative

B. multivorans

strains showed considerable inter-strain variance, but the majority of the isolates tested were motile and capable of biofilm formation. A striking absence of

B. multivorans

protease activity in vitro was observed, but no lineage-specific phenotypic differences were demonstrated. Using phylogenomic and phenotypic criteria, three model

B. multivorans

CF strains were identified, BCC0084 (lineage 1), BCC1272 (lineage 2a) and BCC0033 lineage 2b, and their complete genome sequences determined.

B. multivorans

CF strains BCC0033 and BCC0084, and the environmental reference strain, ATCC 17616, were all capable of short-term survival within a murine lung infection model. By mapping the population biology, identifying lineage-specific PCRs and model strains, we provide much needed baseline resources for future studies of

B. multivorans

.
Testing for the fitness benefits of natural transformation during community-embedded evolution
Authors: Winter Macaulay , Harms Klaus , Johnsen Pål Jarle , Buckling Angus , Vos Michiel
Published: August 2023

Natural transformation is a process where bacteria actively take up DNA from the environment and recombine it into their genome or reconvert it into extra-chromosomal genetic elements. The evolutionary benefits of transformation are still under debate. One main explanation is that foreign allele and gene uptake facilitates natural selection by increasing genetic variation, analogous to meiotic sex. However, previous experimental evolution studies comparing fitness gains of evolved transforming- and isogenic non-transforming strains have yielded mixed support for the ‘sex hypothesis.’ Previous studies testing the sex hypothesis for natural transformation have largely ignored species interactions, which theory predicts provide conditions favourable to sex. To test for the adaptive benefits of bacterial transformation, the naturally transformable wild-type

Acinetobacter baylyi

and a transformation-deficient ∆comA mutant were evolved for 5 weeks. To provide strong and potentially fluctuating selection,

A. baylyi

was embedded in a community of five other bacterial species. DNA from a pool of different

Acinetobacter

strains was provided as a substrate for transformation. No effect of transformation ability on the fitness of evolved populations was found, with fitness increasing non-significantly in most treatments. Populations showed fitness improvement in their respective environments, with no apparent costs of adaptation to competing species. Despite the absence of fitness effects of transformation, wild-type populations evolved variable transformation frequencies that were slightly greater than their ancestor which potentially could be caused by genetic drift.
Single-cell analyses of CSF and PBMCs from anti-NMDAR encephalitis patients reveals distinct characteristics of T cell subpopulations
Authors: Li Sisi , Hu Xiang , Yang Yi , Wang Jierui , Hong Zhen , Zhou Dong , Li Jinmei
Published: August 2023

Background

Anti-N-methyl-D-aspartate receptor encephalitis (NMDAR-E) is a common and severe antibody-mediated autoimmune encephalitis. While the roles of B cells and NMDAR antibodies in NMDAR-E have been extensively studied, the involvement of T cell subpopulations in the disease progression remains unclear.

Methods

This study conducted single-cell RNA sequencing, single-cell TCR sequencing, and flow cytometry to analyze the T cell subpopulations and their transcriptomic characteristics in NMDAR-E patients and control individuals. Furthermore, it explored the interaction between CD8+T cells and B cells through in vitro cell co-culture and cell communication analysis.

Results

The study found activated CD8+T cell subpopulations in the cerebrospinal fluid (CSF) and peripheral blood mononuclear cells (PBMCs) of NMDAR-E patients, with some subpopulations exhibiting significant TCR clonal expansion. Differential expression gene analysis revealed upregulation of genes related to cytotoxicity, tissue residency, Th1, IFN, or TCR signaling in certain activated CD8+T cell and CD4+memory T cell subpopulations. In vitro co-culture experiments demonstrated that CD8+T cells from the PBMCs of NMDAR-E patients could induce apoptosis of their own B cells. Cell interaction analysis revealed the existence of interactions between KIR+CD8+T cells and B cell subpopulations in NMDAR-E patients.

Conclusion

This study explored the changes and transcriptomic characteristics of activated CD8+T cell subpopulations in the CSF and PBMCs of NMDAR-E patients. Additionally, it discovered the impact of CD8+T cells from NMDAR-E patients on their own B cells, providing new evidence for the interaction between CD8+T cells and B cells.
Classifying autism in a clinical population based on motion synchrony: a proof-of-concept study using real-life diagnostic interviews
Authors: Koehler Jana Christina , Dong Mark Sen , Song Da-Yea , Bong Guiyoung , Koutsouleris Nikolaos , Yoo Heejeong , Falter-Wagner Christine M.
Published: August 2023

Predictive modeling strategies are increasingly studied as a means to overcome clinical bottlenecks in the diagnostic classification of autism spectrum disorder. However, while some findings are promising in the light of diagnostic marker research, many of these approaches lack the scalability for adequate and effective translation to everyday clinical practice. In this study, our aim was to explore the use of objective computer vision video analysis of real-world autism diagnostic interviews in a clinical sample of children and adolescents to predict diagnosis. Specifically, we trained a support vector machine learning model on interpersonal synchrony data recorded in Autism Diagnostic Observation Schedule (ADOS) interviews of patient-clinician dyads. Our model was able to classify dyads involving an autistic patient (n=56) with a balanced accuracy of 63.4% against dyads including a patient with other psychiatric diagnoses (n=38). Further analyses revealed no significant associations between our classification metrics with clinical ratings. We argue that, given the above-chance performance of our classifier in a highly heterogeneous sample both in age and diagnosis, with few adjustments this highly scalable approach presents a viable route for future diagnostic marker research in autism.
Clinical Impact of Multiplex Molecular Diagnostic Testing in Children with Acute Gastroenteritis Presenting to An Emergency Department: A Multicenter Prospective Study
Authors: Pavia Andrew T. , Cohen Daniel M. , Leber Amy L. , Daly Judy A. , Jackson Jami T. , Selvarangan Rangaraj , Kanwar Neena , Bender Jeffrey M. , Bard Jennifer Dien , Festekjian Ara , Duffy Susan , Larsen Chari , Holmberg Kristen M. , Bardsley Tyler , Haaland Benjamin , Bourzac Kevin M. , Stockmann Christopher , Chapin Kimberle C. , Leung Daniel T.
Published: August 2023

Background

Multiplex molecular diagnostic panels have greatly enhanced detection of gastrointestinal pathogens. However, data on the impact of these tests on clinical and patient-centered outcomes are limited.

Methods

We conducted a prospective, multicenter, stepped-wedge trial to determine the impact of multiplex molecular testing at five academic children’s hospitals in children presenting to the ED with acute gastroenteritis. Caregivers were interviewed on enrollment and again 7-10 days after enrollment to determine symptoms, risk factors, subsequent medical visits, and impact on family members. During the pre-intervention period, diagnostic testing was performed at the discretion of clinicians. During the intervention period, multiplex molecular testing was performed on all children with results available to clinicians. Primary outcome was return visits to a health care provider within 10 days of enrollment.

Results

Potential pathogens were identified by clinician ordered tests in 19/571 (3.3%) in the pre-intervention period compared to 434/586 (74%) in the intervention period; clinically relevant pathogens were detected in 2.1% and 15% respectively. In the multivariate model adjusting for potential confounders, the intervention was associated with a 21% reduction in the odds of any return visit (OR 0.79; 95% CI 0.70-0.90). Appropriate treatment was prescribed in 11.3% compared to 19.6% during the intervention period(P=0.22).

Conclusions

Routine molecular multiplex testing for all children presenting to the ED with AGE detected more clinically relevant pathogens and led to a 21% decrease in return visits. Additional research is needed to define patients most likely to benefit from testing.
The Use of Machine Learning Methods in Neurodegenerative Disease Research: A Scoping Review
Authors: Ciampi Antonio , Rouette Julie , Pellegrini Fabio , Simoneau Gabrielle , Caba Bastien , Gafson Arie , de Moor Carl , Belachew Shibeshih
Published: August 2023

Machine learning (ML) methods are increasingly used in clinical research, but their extent is complex and largely unknown in the field of neurodegenerative diseases (ND). This scoping review describes state-of-the-art ML in ND research using MEDLINE (PubMed), Embase (Ovid), Central (Cochrane), and Institute of Electrical and Electronics Engineers Xplore. Included articles, published between January 1, 2016, and December 31, 2020, used patient data on Alzheimer’s disease, multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s disease, or Huntington’s disease that employed ML methods during primary analysis. One reviewer screened citations for inclusion; 5 conducted data extraction. For each article, we abstracted the type of ND; publication year; sample size; ML algorithm data type; primary clinical goal (disease diagnosis/prognosis/prediction of treatment effect); and ML method type. Quantitative and qualitative syntheses of the results were conducted. After screening 4,471 citations and searching 1,677 full-text articles, 1,485 articles were included. The number of articles using ML methods in ND research increased from 172 in 2016 to 490 in 2020, with most of those in Alzheimer’s disease. The most common data type was imaging data (46.9% of articles), followed by functional (20.6%), clinical (14.2%), biospecimen (6.2%), genetic (5.9%), electrophysiological (5.1%), and molecular (1.1%). Overall, 68.5% of imaging data studies were in Alzheimer’s disease and 75.9% of functional data studies were in Parkinson’s disease. Disease diagnosis was the most common clinical aim in studies using ML methods (73.5%), followed by disease prognosis (21.4%) and prediction of treatment effect (13.5%). We extracted 2,734 ML methods, with support vector machine (n=651, 23.8%), random forest (n=310, 11.3%), and convolutional neural network (n=166, 6.1%) representing the majority. Finally, we identified 322 unique ML methods. There are opportunities for additional research using ML methods for disease prognosis and prediction of treatment effect. Addressing these utilization gaps will be important in future studies.

Author Summary

Few state-of-the-art scientific updates have been targeted for broader readerships without indulging in technical jargon. We have learned a lot from Judea Pearl on how to put things into context and make them clear. In this review paper, we identify machine learning methods used in the realm of neurodegenerative diseases and describe how the use of these methods can be enhanced in neurodegenerative disease research.
Structure of Orthoreovirus RNA Chaperone σNS, a Component of Viral Replication Factories
Authors: Zhao Boyang , Hu Liya , Kaundal Soni , Neetu Neetu , Lee Christopher H. , Somoulay Xayathed , Sankaran Banumathi , Taylor Gwen M. , Dermody Terence S. , Venkataram Prasad B. V.
Published: August 2023

The reovirus σNS RNA-binding protein is required for formation of intracellular compartments during viral infection that support viral genome replication and capsid assembly. Despite its functional importance, a mechanistic understanding of σNS is lacking. We conducted structural and biochemical analyses of an R6A mutant of σNS that forms dimers instead of the higher-order oligomers formed by wildtype (WT) σNS. The crystal structure of selenomethionine-substituted σNS-R6A reveals that the mutant protein forms a stable antiparallel dimer, with each subunit having a well-folded central core and a projecting N-terminal arm. The dimers interact with each other by inserting the N-terminal arms into a hydrophobic pocket of the neighboring dimers on either side to form a helical assembly that resembles filaments of WT σNS in complex with RNA observed using cryo-EM. The interior of the crystallographic helical assembly is positively charged and of appropriate diameter to bind RNA. The helical assembly is disrupted by bile acids, which bind to the same hydrophobic pocket as the N-terminal arm, as demonstrated in the crystal structure of σNS-R6A in complex with bile acid. This finding suggests that the N-terminal arm functions in conferring context-dependent oligomeric states of σNS, which is supported by the structure of σNS lacking the N-terminal arm. We discovered that σNS displays RNA helix destabilizing and annealing activities, likely essential for presenting mRNA to the viral RNA-dependent RNA polymerase for genome replication. The RNA chaperone activity is reduced by bile acids and abolished by N-terminal arm deletion, suggesting that the activity requires formation of σNS oligomers. Our studies provide structural and mechanistic insights into the function of σNS in reovirus replication.
Strategy to simulate and fit 2D grazing-incidence small-angle X-ray scattering patterns of nanostructured thin films
Authors: Jung Florian A. , Papadakis Christine M.
Published: August 2023

Grazing-incidence small-angle X-ray scattering (GISAXS) is a widely used method for the characterization of the nanostructure of supported thin films and enables time-resolved in situ measurements. The 2D scattering patterns contain detailed information about the nanostructures within the film and at its surface. However, this information is distorted not only by the reflection of the X-ray beam at the substrate–film interface and its refraction at the film surface but also by scattering of the substrate, the sample holder and other types of parasitic background scattering. In this work, a new, efficient strategy to simulate and fit 2D GISAXS patterns that explicitly includes these effects is introduced and demonstrated for (i) a model case nanostructured thin film on a substrate and (ii) experimental data from a microphase-separated block copolymer thin film. To make the protocol efficient, characteristic linecuts through the 2D GISAXS patterns, where the different contributions dominate, are analysed. The contributions of the substrate and the parasitic background scattering – which ideally are measured separately – are determined first and are used in the analysis of the 2D GISAXS patterns of the nanostructured, supported film. The nanostructures at the film surface and within the film are added step by step to the real-space model of the simulation, and their structural parameters are determined by minimizing the difference between simulated and experimental scattering patterns in the selected linecuts. Although in the present work the strategy is adapted for and tested with BornAgain, it can be easily used with other types of simulation software. The strategy is also applicable to grazing-incidence small-angle neutron scattering.
A nickel(II) complex with an unsymmetrical tetradentate chelating ligand derived from pyridine-2,6-dicarbaldehyde and 2-aminothiophenol
Authors: Al-Zeidaneen Firas Khalil , Anson Christopher E. , Powell Annie K.
Published: August 2023

[(2-{[6-(1,3-Benzothiazol-2-yl)pyridin-2-yl]carbonylazanidyl}phenyl)sulfanido]nickel(II), [Ni(C19H11N3OS2)], crystallizes in the centrosymmetric monoclinic space group P21/n with one molecule in the asymmetric unit. The expected ligand, a bis-Schiff base derived from pyridine-2,6-dicarbaldehyde and 2-aminothiophenol, had modified in situ in a both unexpected and unsymmetrical fashion. One arm had cyclized to form a benzo[d]thiazol-2-yl functionality, while the imine linkage of the second arm had oxidized to an amide group. The geometry about the central NiII atom is distorted square-planar N3S. The molecules form supramolecular face-to-face dimers via rather strong π–π stacking interactions, with these dimers then linked into chains via pairwise C—H...O interactions.
Revisiting the impact of Liverpool as ECoC 2008: the lost opportunity to reconcile cultural policy and evaluation
Authors: Crone Stephen , Ganga Rafaela
Published: August 2023

Purpose

In this paper, the authors reflect critically on their experience as researchers on the Impacts 18 programme: a re-study concerned with the long-term effects of Liverpool European Capital of Culture (ECoC) 2008. Situating Impacts 18 at the confluence of three important debates within the cultural policy field, the paper considers the causation, nature and significance of the shortcomings of the research, with a view to advancing cultural evaluation practices and encouraging re-studies in a field where they are seldom used.

Design/methodology/approach

The authors draw on documentary analysis of unpublished research outputs, along with their own research notes and critical reflections. The paper focuses on two projects from the Impacts 18 programme, in particular, in order to illustrate the broader issues raised in terms of the epistemological framing, methodological design and execution of the Impacts 18 research.

Findings

The paper highlights and explores the various issues that affected Impacts 18 in terms of its epistemological framing and methodological design, as well as problems encountered in terms of data management and stakeholder relationships.

Originality/value

As a large-scale re-study of a cultural event, Impacts 18 represents an exceedingly rare occurrence, despite the acknowledged dearth of evidence on the longer-term impacts of such events. Similarly unusual, however, are critical and candid retrospectives from research authors themselves. The paper is thus doubly unusual, in these two respects, and should help to advance research practice in an under-researched area.
Development of a mobile Web library application for an institutional repository and investigation of its influences on learning
Authors: Nguyen Hien Thi Thanh , Hwang Wu-Yuin , Pham Thao , Truong Tuyen Thi Thanh , Chang Hsin-Wei
Published: August 2023

Purpose

This study aims to examine the effects of the proposed mobile Web library application (MWLA) on the search experience and its impact on learners’ engagement, interaction and overall learning outcomes within an institutional repository. Furthermore, the study investigates learners’ acceptance of the MWLA system.

Design/methodology/approach

The study suggests implementing an MWLA with Algolia’s search service to improve the institutional repository and enhance learners’ access to reliable information. It involved an experiment with 85 undergraduate students divided into experimental and control groups (CGs), where the experimental group (EG) used MWLA for search tasks, and the CG used the traditional library website. The study evaluated the acceptance and learning behaviours of the EG towards MWLA, considering factors such as usefulness, ease of use, mobility, accessibility, satisfaction and intention to use.

Findings

The findings of this study provide empirical evidence that the EG, which used the MWLA, demonstrated superior performance compared to the CG across all institutional repository collections, resulting in improved learning outcomes. Participants were highly satisfied with MWLA and found it user-friendly and beneficial for improving search skills. MWLA’s portability and accessibility motivated active learner engagement.

Originality/value

The powerful search bar of MWLA significantly enhanced learners’ search efficiency, resulting in more effective retrieval of relevant materials. Moreover, learners who actively engaged with previews and full-text content, using appropriate keywords and syntax, achieved higher scores and were more likely to access previews, abstracts and full texts of documents using the sorting-by-year or by-advisor feature.
Overeducation and childcare time
Authors: Kucel Aleksander , Vilalta-Bufí Montserrat
Published: August 2023

Purpose

Research shows that parental employment and education status affect the amount of parental childcare time, which is a fundamental determinant of children's outcomes. In this paper, the authors study whether being overeducated – working in a job that requires less education than the level of education acquired – is related to the time parents devote to their children.

Design/methodology/approach

The authors set two main hypotheses. First, overeducation might lead to more childcare time if being overeducated is the result of the individual prioritizing family over career. Second, overeducation might lead to less childcare time if overeducation is the result of lower ability. The authors estimate time use equations using the American Time Use Survey (ATUS) from 2004 to 2019.

Findings

The authors find that overeducated parents devote less time to childcare than matched parents, especially in the weekend sample. The authors’ results suggest that overeducation is not a deliberate choice prioritizing family over career.

Originality/value

To the best of the authors’ knowledge, this is the first study on the implications of being overeducated on childcare.
Does tax avoidance impair accounting comparability?
Authors: Baker Paul L. , Lyu Peiwei , Perotti Pietro
Published: August 2023

Purpose

This paper examines the relationship between tax avoidance and accounting comparability. The authors argue that aggressive tax behavior impairs the comparability of financial statements by altering the accounting function, which maps economic events into accounting data.

Design/methodology/approach

The empirical analysis is based on a large sample of United States (US) firms. The authors use raw and industry-adjusted effective tax rates (ETRs) to proxy tax avoidance. The authors use the measure of accounting comparability developed by De Franco et al. (2011), which aims to capture the similarity of the accounting function.

Findings

The authors find that firms with more aggressive tax avoidance strategies have substantially lower accounting comparability. The evidence also shows that the negative effect of tax avoidance on accounting comparability is driven by firms with aggressive tax planning strategies beyond the industry norm. Furthermore, using an alternative measure of accounting comparability as a function of pre-tax income, the authors continue to find evidence of the negative effect of tax avoidance behavior. Importantly, this provides evidence that the effect of aggressive tax planning is not limited to the reported tax expense, but affects the comparability of the overall financial reporting system.

Originality/value

The authors identify a new potential cost of tax aggressive activities, being the loss of accounting comparability as driven by tax aggressive activities. The results contribute to the literature on the costs of tax avoidance and on the determinants of accounting comparability.
Professional tacit knowledge sharing in practice. Agency, boundaries, and commitment
Authors: van Houten Maarten Matheus
Published: August 2023

Purpose

The purpose of this study is to gain insight into the dynamics and considerations of professionals regarding the sharing of tacit, personal knowledge in their practice.

Design/methodology/approach

Adopting a social-constructivist ontology, the qualitative design deploys semi-structured interviews and focus groups. Data were coded, and analysed through interrelating and reasoning.

Findings

Personal knowledge is difficult to share precisely, but can be shared to some extent using reflection and stories. Knowledge also provides a position and professional agency, emphasising boundaries and impacting the decisions on interaction and sharing. As such, professional commitment is vulnerable and contextual and, by extension, material becomes part of this interplay of professional practice and collaborative development.

Research limitations/implications

Findings imply that exchange and use of knowledge and material present in organisations are impacted by individual professionals’ autonomy and decisions, which consequently impact on employees’ practice. This calls for research that focuses on individual factors such as autonomy, professionalism and attitudes in addition to organisational and facilitative matters.

Practical implications

Stimulating professional commitment and interpersonal learning is a matter of valuing personal knowledge and practice to avoid protectionism, boundaries and segregated agency. Management and professionals should consider how and why individuals exchange their personal knowledge, paying attention to social structures and individuals’ voices and objectives in forming communities.

Originality/value

This study combines the concept of tacit knowledge with the younger field of practice theory. By connecting personal knowledge to practice, it extends agency to the material world and offers a more individual perspective to knowledge sharing in and between entities.
Perceptions of police ineffectiveness and street codes by nationality in South Korea: an application of Anderson's code of the street framework
Authors: Kuen Kiseong , Kwak Hyounggon , Ra Kwang Hyun
Published: August 2023

Purpose

This study explores the applicability of Anderson's (1999) code of the street framework to an Asian context by examining the relationship between residents' perceptions of police ineffectiveness, nationality, and street codes in foreigner-concentrated areas in South Korea.

Design/methodology/approach

The authors used survey data from 1,865 residents of diverse nationalities living in 20 foreigner-concentrated areas in South Korea. Mixed-effects ordinary least squares (OLS) regression and moderation analysis were used to examine (1) the association between residents' perceptions of police ineffectiveness and their street codes and (2) how this association varies across nationality groups.

Findings

The study findings overall indicated that higher resident perceptions of police as ineffective tended to correspond with greater levels of street codes. However, the interaction analysis results found that this relationship was conditioned by nationality. Specifically, perceptions of police ineffectiveness were associated with greater levels of street codes among foreign residents, particularly Korean-Chinese residents, whereas this was not the case among Korean residents.

Originality/value

The relationship between perceptions of the police and street codes described by Anderson (1999) has primarily been examined in the context of the U.S. To the best of the authors' knowledge, this study represents the first attempt to explore the link between residents' perceptions of the police and street codes by different nationality groups within an Asian setting.
Expression of interleukin‐36 receptor antagonist in a patient with generalized pustular psoriasis harboring the p.Pro82Leu variant in the IL36RN gene
Authors: Mizukawa Itsumi , Kamata Masahiro , Shimizu Teruo , Ito Makoto , Watanabe Ayu , Uchida Hideaki , Egawa Shota , Nagata Mayumi , Fukaya Saki , Hayashi Kotaro , Fukuyasu Atsuko , Tanaka Takamitsu , Ishikawa Takeko , Sugiura Kazumitsu , Tada Yayoi
Published: August 2023

It has recently been revealed that mutation of the IL36RN gene contributes to the development of generalized pustular psoriasis (GPP). The IL36RN gene encodes interleukin (IL)‐36 receptor antagonist (IL‐36Ra), which has antagonistic roles against IL‐36α, ‐36β, and ‐36γ. Previously, sanger sequencing performed in 62 Chinese GPP patients to identify IL36RN mutations revealed a new variant, c.245C>T (p.Pro82Leu), in a single heterozygous state in a patient with adult‐onset GPP with psoriasis vulgaris. Since this p.Pro82Leu variant was not found in the psoriasis vulgaris or control groups in their study, they speculated that this variant might lead to exacerbated inflammatory responses. Meanwhile, Sorting Intolerant From Tolerant and PolyPhen‐2, pathogenicity prediction tools, predict this variant as tolerated and benign. To date, its pathogenicity is unknown. We experienced a patient with GPP harboring the p.Pro82Leu variant, and investigated mRNA and protein expressions of IL‐36Ra. Polymerase chain reaction conducted on hair follicle samples obtained from the scalp of the patient with GPP harboring the p.Pro82Leu using primers to detect mRNA of exons 2 and 5 in IL36RN demonstrated mRNA expression of IL36RN. Immunohistochemical staining revealed IL‐36Ra expression in the keratinocytes of the patient with GPP harboring the p.Pro82Leu as in those of a GPP patient without the mutation (positive control). Furthermore, quantitative analysis of the immunofluorescent staining by ImageJ revealed that the expression level of IL‐36Ra in the keratinocytes of the patient with GPP harboring p.Pro82Leu was higher than that in the healthy control and not lower than that in the GPP patients without the mutation. Our results indicate no aberrant splicing in this variant. In addition, according to the 1000 Genomes Project, this variant could be a founder mutation. Considering these factors together, this variant is unlikely to be associated with the development of GPP.