bluuebunny/crossref_metadata_2025_split huggingface dataset:
Knowledge and attitude towards sickle cell anemia among care givers of paediatric sickle cell patients at a tertiary hospital in Eastern Uganda: a cross sectional study
Authors: Namugerwa Christine H , Gavamukulya Yahaya , Barugahare Banson John 
Published: November 2023

Abstract
Objective
To explore the knowledge and attitude towards sickle cell disease (SCD) among care givers of paediatric sickle cell patients at Mbale regional referral hospital in Eastern Uganda.

Methods
A cross sectional study was conducted at Mbale regional referral hospital. We used simple random sampling technique to recruit participants from among the care givers of pediatric sickle cell patients admitted at the hospital, administered questionnaires and conducted multivariable logistic regression to establish the association between the different factors.

Results
372 respondents participated in the study, 82.26% of which were female. 57.80% of the respondents had ever heard of SCD/SCA. 36.02% were willing to stay in a relationship with their partner despite the risk of having a child with SCD/SCA. A multivariate analysis revealed that variables; “number of children”, “children with sickle cell can cope with life” and “willing to stay in a relationship despite the risk of a having a child with sickle cell” were statistically significant.

Conclusion
There was a high level of general awareness about SCD/SCA but comprehensive knowledge about its cause and prevention was low and the majority did not find a reason as to why it should influence their marital decisions. Inclusion of SCD/SCA in existing health education programs is highly recommended.
Clinical outcomes up to 9 years after [18F]flutemetamol amyloid-PET in a symptomatic memory clinic population
Authors: Collij Lyduine E. , Farrar Gill , Zwan Marissa , van de Giessen Elsmarieke , Ossenkoppele Rik , Barkhof Frederik , Rozemuller Annemieke J. M. , Pijnenburg Yolande A. L. , van der Flier Wiesje M. , Bouwman Femke 
Published: November 2023

Abstract
Background
Previous studies demonstrated increases in diagnostic confidence and change in patient management after amyloid-PET. However, studies investigating longitudinal outcomes over an extended period of time are limited. Therefore, we aimed to investigate clinical outcomes up to 9 years after amyloid-PET to support the clinical validity of the imaging technique.

Methods
We analyzed longitudinal data from 200 patients (Mage = 61.8, 45.5% female, MMMSE = 23.3) suspected of early-onset dementia that underwent [18F]flutemetamol-PET. Baseline amyloid status was determined through visual read (VR). Information on mortality was available with a mean follow-up of 6.7 years (range = 1.1–9.3). In a subset of 108 patients, longitudinal cognitive scores and clinical etiological diagnosis (eDx) at least 1 year after amyloid-PET acquisition were available (M = 3.06 years, range = 1.00–7.02). VR − and VR + patients were compared on mortality rates with Cox Hazard’s model, prevalence of stable eDx using chi-square test, and longitudinal cognition with linear mixed models. Neuropathological data was available for 4 patients (mean delay = 3.59 ± 1.82 years, range = 1.2–6.3).

Results
At baseline, 184 (92.0%) patients were considered to have dementia. The majority of VR + patients had a primary etiological diagnosis of AD (122/128, 95.3%), while the VR − group consisted mostly of non-AD etiologies, most commonly frontotemporal lobar degeneration (30/72, 40.2%). Overall mortality rate was 48.5% and did not differ between VR − and VR + patients. eDx at follow-up was consistent with baseline diagnosis for 92/108 (85.2%) patients, with most changes observed in VR − cases (VR −  = 14/35, 40% vs VR +  = 2/73, 2.7%, χ2 = 26.03, p < 0.001), who at no time received an AD diagnosis. VR + patients declined faster than VR − patients based on MMSE (β =  − 1.17, p = 0.004), episodic memory (β =  − 0.78, p = 0.003), fluency (β =  − 1.44, p < 0.001), and attention scores (β = 16.76, p = 0.03). Amyloid-PET assessment was in line with post-mortem confirmation in all cases; two cases were VR + and showed widespread AD pathology, while the other two cases were VR − and showed limited amyloid pathology.

Conclusion
In a symptomatic population, we observed that amyloid-status did not impact mortality rates, but is predictive of cognitive functioning over time across several domains. Also, we show particular validity for a negative amyloid-PET assessment, as these patients did not receive an AD diagnosis at follow-up.
Pricing and cost-saving potential for deep-learning computer-aided lung nodule detection software in CT lung cancer screening
Authors: Du Yihui , Greuter Marcel J. W. , Prokop Mathias W. , de Bock Geertruida H. 
Published: November 2023

Abstract
Objective
An increasing number of commercial deep learning computer-aided detection (DL-CAD) systems are available but their cost-saving potential is largely unknown. This study aimed to gain insight into appropriate pricing for DL-CAD in different reading modes to be cost-saving and to determine the potentially most cost-effective reading mode for lung cancer screening.

Methods
In three representative settings, DL-CAD was evaluated as a concurrent, pre-screening, and second reader. Scoping review was performed to estimate radiologist reading time with and without DL-CAD. Hourly cost of radiologist time was collected for the USA (€196), UK (€127), and Poland (€45), and monetary equivalence of saved time was calculated. The minimum number of screening CTs to reach break-even was calculated for one-time investment of €51,616 for DL-CAD.

Results
Mean reading time was 162 (95% CI: 111–212) seconds per case without DL-CAD, which decreased by 77 (95% CI: 47–107) and 104 (95% CI: 71–136) seconds for DL-CAD as concurrent and pre-screening reader, respectively, and increased by 33–41 s for DL-CAD as second reader. This translates into €1.0–4.3 per-case cost for concurrent reading and €0.8–5.7 for pre-screening reading in the USA, UK, and Poland. To achieve break-even with a one-time investment, the minimum number of CT scans was 12,300–53,600 for concurrent reader, and 9400–65,000 for pre-screening reader in the three countries.

Conclusions
Given current pricing, DL-CAD must be priced substantially below €6 in a pay-per-case setting or used in a high-workload environment to reach break-even in lung cancer screening. DL-CAD as pre-screening reader shows the largest potential to be cost-saving.

Critical relevance statement
Deep-learning computer-aided lung nodule detection (DL-CAD) software must be priced substantially below 6 euro in a pay-per-case setting or must be used in high-workload environments with one-time investment in order to achieve break-even. DL-CAD as a pre-screening reader has the greatest cost savings potential.

Key points
• DL-CAD must be substantially below €6 in a pay-per-case setting to reach break-even.
• DL-CAD must be used in a high-workload screening environment to achieve break-even.
• DL-CAD as a pre-screening reader shows the largest potential to be cost-saving.

Graphical Abstract
Kasimovian (late Pennsylvanian) cornute rugose corals from Egypt: taxonomy, facies and palaeogeography of a cool-water fauna from northern Gondwana
Authors: El-Desouky Heba , Herbig Hans-Georg , Kora Mahmoud 
Published: November 2023

AbstractA strongly endemic Upper Pennsylvanian (Kasimovian) rugose coral association consisting of small, mostly non-dissepimented, simple structured and poorly diversified species is studied from the lower member of the Aheimer Formation (Western side of the Gulf of Suez, Egypt). The unit is composed of grey, silty mudstone intercalated with thin, ferruginous, silty dolostone–limestone and calcareous siltstone beds. Ten taxa from four families were identified. Four species of the Antiphyllinae are new; Actinophrentiscrassithecata n. sp., Lytvolasmaaheimerensis n. sp., L.paraaucta n. sp. and Monophyllumgalalaensis n. sp. Besides, Rotiphyllumexile de Groot, 1963 and Bothrophyllumokense Kossovaya, 2001 were identified; four taxa remain in open nomenclature (Lytvolasma cf. canadense, Zaphrentites cf. parallela, Zaphrentites sp. and Ufimia sp.). Rejuvenation, encrustation and bioerosion phenomena are rare. Attachment structures during mature stages are not evident; attachment scars in the apical parts are also rare. Growth patterns and embedding in the muddy deposits indicates that the corals lived as mudstickers in soft substrate. Recrystallization, dolomitization and ferrugination of open pore spaces inside the corals are the most common diagenetic features. The corals from the lower Aheimer Formation represent a typical cyathaxonid fauna that was adapted to high clastic input and turbid waters in a restricted, sheltered, episodically storm-swept inner ramp environment in an embayment of the southern shelf of the Palaeotethys. A time-averaged ramp model shows a regressive development from a mixed carbonate–siliciclastic open inner ramp setting during the Moscovian to the restricted inner ramp of the lower Aheimer Formation (Kasimovian) and following peritidal to fluvial environments of the Gzhelian. General and local palaeoclimatic considerations indicate cooling. Besides relations to northern Spain that root Egypt in the western Palaeotethys, connections existed via the Donets Basin (and the southern Urals) to the Cordilleran–Arctic–Uralian realm which is a cool water province during the Lower and Middle Permian. The Egyptian fauna appears to be a precursor of the anti-tropical cyathaxonid fauna of the latter time slice and also of the Lower Permian cool-water faunas of the east Cimmerian peri-Gondwana terranes.ZooBank LSID: urn:lsid:zoobank.org:pub:708F049E-F27B-4DDA-B052-22B56D883CAE
Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
Authors: Lan Qiong , Lin Yifeng , Wang Xi , Yuan Xi , Shen Chunmei , Zhu Bofeng 
Published: November 2023

Abstract
Background
In this study, we present a NGS-based panel designed for sequencing 1993 SNP loci for forensic DNA investigation. This panel addresses unique challenges encountered in forensic practice and allows for a comprehensive population genetic study of the Chinese Korean ethnic group. To achieve this, we combine our results with datasets from the 1000 Genomes Project and the Human Genome Diversity Panel.

Results
We demonstrate that this panel is a reliable tool for individual identification and parentage testing, even when dealing with degraded DNA samples featuring exceedingly low SNP detection rates. The performance of this panel for complex kinship determinations, such as half-sibling and grandparent-grandchild scenarios, is also validated by various kinship simulations. Population genetic studies indicate that this panel can uncover population substructures on both global and regional scales. Notably, the Han population can be distinguished from the ethnic minorities in the northern and southern regions of East Asia, suggesting its potential for regional ancestry inference. Furthermore, we highlight that the Chinese Korean ethnic group, along with various Han populations from different regional areas and certain northern ethnic minorities (Daur, Tujia, Japanese, Mongolian, Xibo), exhibit a higher degree of genetic affinities when examined from a genomic perspective.

Conclusion
This study provides convincing evidence that the NGS-based panel can serve as a reliable tool for various forensic applications. Moreover, it has helped to enhance our knowledge about the genetic landscape of the Chinese Korean ethnic group.
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Authors: Huang Shuangshuang , Wu Zhaoyu , Wang Tong , Yu Rui , Song Zhijian , Wang Hao 
Published: November 2023

AbstractRecent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret clinically relevant genetic variants in human diseases. Therefore, it is crucial to develop appropriate analytical tools to improve the interpretation of disease variants. Given the unique genetic characteristics of mitochondria, including haplogroup, heteroplasmy, and maternal inheritance, we developed a suite of variant analysis toolkits specifically designed for primary mitochondrial diseases: the Mitochondrial Missense Variant Annotation Tool (MmisAT) and the Mitochondrial Missense Variant Pathogenicity Predictor (MmisP). MmisAT can handle protein-coding variants from both nuclear DNA and mtDNA and generate 349 annotation types across six categories. It processes 4.78 million variant data in 76 min, making it a valuable resource for clinical and research applications. Additionally, MmisP provides pathogenicity scores to predict the pathogenicity of genetic variations in mitochondrial disease. It has been validated using cross-validation and external datasets and demonstrated higher overall discriminant accuracy with a receiver operating characteristic (ROC) curve area under the curve (AUC) of 0.94, outperforming existing pathogenicity predictors. In conclusion, the MmisAT is an efficient tool that greatly facilitates the process of variant annotation, expanding the scope of variant annotation information. Furthermore, the development of MmisP provides valuable insights into the creation of disease-specific, phenotype-specific, and even gene-specific predictors of pathogenicity, further advancing our understanding of specific fields.
A parent-report measure of children’s anxiety: psychometric properties of the Macquarie Anxiety Behavioural Scale (MABS) in a Chinese sample of preschool children
Authors: Chen Wei , Zhou Xingrong , Yin Xingyu , Zhao Shouying 
Published: November 2023

Abstract
Objective
The Macquarie Anxiety Behavioural Scale (MABS) is a newly developed scale to assess anxiety in children and teenagers. The present study aimed to evaluate the reliability and validity of the Chinese version of the MABS, as well as the measurement invariance across different age groups in a preschool-aged sample.

Methods
A total of 1007 parents with children aged 3–6 years participated in the study. Internal consistency was assessed by calculating Cronbach’s alpha, McDonald’s omega and average inter-item correlation values. Confirmatory factor analysis (CFA) was conducted to examine the five-factor model. Multi-group CFA was conducted to test the measurement equivalence across different age groups (3- and 4-year-olds and 5- and 6-year-olds). Convergent, divergent, and criterion-related validity were assessed with Pearson correlation coefficients.

Results
Internal consistency for the MABS total score was good and that of the subscales was acceptable. The CFA results showed that the five-factor structure of the MABS was supported in preschoolers (e.g., CFI = 0.929, TLI = 0.914, RMSEA = 0.050). In addition, scalar invariance of the MABS was supported across different age groups (e.g., ΔCFI = − 0.003, ΔTLI = 0, ΔRMSEA = 0). Furthermore, the MABS showed good convergent and divergent validity as well as criterion-related validity.

Conclusion
The Chinese version of the MABS demonstrated satisfactory psychometric properties and appeared to be a valid and reliable instrument for measuring anxiety in preschool children.
Using the grouping function of machine learning algorithm to reduce the influence of information avoidance tendency during reading behavior
Authors: Zhou Juan , Wang Siqi , Xu Ling , Yin Chengjiu 
Published: November 2023

AbstractInformation avoidance has been studied in medicine, economics, and psychology, and has recently been discussed in educational technology. In this study, the authors developed a grouping method to reduce students’ information avoidance in reading through group work. This two-step group method includes the k-means and genetic algorithm to explore the grouping method based on students’ marking tendencies. To examine the effect of this method, an experiment was conducted in a web-system development course with 33 graduate students. The results showed that information avoidance occurred less in the experimental group than in the control group. The students of the two-step grouping method evaluated group work as more helpful for their study than the students who attended the usual group work.
Experimental investigation of relationship between bearing capacity and vibration parameters for planetary exploration legged rovers
Authors: Watanabe Tomohiro , Iizuka Kojiro 
Published: November 2023

AbstractIn recent years, robots with leg mechanisms have received considerable attention as high-running planetary exploration rovers. Rovers undertaking planetary exploration require outstanding running performance to travel on loose ground on which they mostly slip and hardly move forward. The movement of the rover easily deforms the surface of loose ground. This problem can be solved by increasing the bearing capacity. The bearing capacity, the resistance force exerted on the rover legs when they make contact with the ground, needs to be sufficiently large to prevent legged rovers from slipping on loose ground. The bearing capacity can be increased by compaction of the ground by imparting vibrations. This study investigates the relationship between the bearing capacity in the horizontal direction and vibration parameters because this relationship offers valuable information for improving the running performance of legged rovers. First, we investigated the effect of changing the vibration parameters on the bearing capacity. Our experimental results show that the bearing capacity is related to vibration acceleration. These results suggest that the bearing capacity can be estimated from the vibration acceleration. Next, the frequency and amplitude were compared as vibration parameters to devise an efficient method for increasing the bearing capacity. The results of these experiments showed that high-amplitude vibrations increase the bearing capacity to a greater extent than high-frequency vibrations. The reason is that high-amplitude vibrations generate larger additional vibrations by the collision between the rod and the ground than high-frequency vibrations. This knowledge is valuable for selecting a suitable vibration that can efficiently increase the bearing capacity. This study suggests a method of facilitating further planetary exploration using legged rovers.
Validation of the novel Eosinophilic Esophagitis Impact Questionnaire
Authors: McCann Eilish , Chehade Mirna , Spergel Jonathan M. , Yaworsky Andrew , Symonds Tara , Stokes Jonathan , Tilton Sarette T. , Sun Xian , Kamat Siddhesh 
Published: November 2023

Abstract
Background
Eosinophilic esophagitis (EoE) has a detrimental effect on health-related quality of life (HRQOL). The Eosinophilic Esophagitis Impact Questionnaire (EoE-IQ) is a novel patient-reported outcome (PRO) measure assessing the impact of EoE on HRQOL. To assess suitability of the EoE-IQ, its measurement properties were evaluated.

Methods
Using baseline and week 24 data from the pivotal, randomized, placebo-controlled, multinational phase 3 R668-EE-1774 trial (NCT03633617) of dupilumab, we evaluated EoE-IQ’s measurement properties (including reliability, construct and known-groups validity, and ability to detect change) and established the threshold for change in scores that can be considered clinically meaningful.

Results
The analysis population comprised 239 adults and adolescents with EoE. Mean age was 28.1 (standard deviation, 13.14) years; 63.6% were male, and 90.4% were White. Reliability estimates for the EoE-IQ average score exceeded acceptable thresholds for patients who were stable as indicated by ratings of Patient Global Impression of Severity (PGIS) and Change (PGIC) (intraclass correlation coefficients, 0.75 and 0.81). Construct validity correlations with other EoE-specific PRO scores were moderate at baseline (|r|= 0.44–0.60) and moderate to strong at week 24 (|r|= 0.61–0.72). In known-groups analysis, EoE-IQ average score discriminated among groups of patients at varying EoE severity levels defined by PGIS scores. A ≥ 0.6-point reduction in EoE-IQ average score (where scores range from 1 to 5, with higher scores indicating worse HRQOL) from baseline to week 24 can be considered clinically meaningful.

Conclusions
The EoE-IQ’s measurement properties are acceptable, making it a valid, reliable measure of the HRQOL impacts of EoE among adults and adolescents.
Trial registration: ClinicalTrials.gov, NCT03633617. Registered August 14, 2018, https://clinicaltrials.gov/study/NCT03633617.
Sheep as a large animal model for hearing research: comparison to common laboratory animals and humans
Authors: Lue Po-Yi , Oliver Mark H. , Neeff Michel , Thorne Peter R. , Suzuki-Kerr Haruna 
Published: November 2023

AbstractSensorineural hearing loss (SNHL), caused by pathology in the cochlea, is the most common type of hearing loss in humans. It is generally irreversible with very few effective pharmacological treatments available to prevent the degenerative changes or minimise the impact. Part of this has been attributed to difficulty of translating “proof-of-concept” for novel treatments established in small animal models to human therapies. There is an increasing interest in the use of sheep as a large animal model. In this article, we review the small and large animal models used in pre-clinical hearing research such as mice, rats, chinchilla, guinea pig, rabbit, cat, monkey, dog, pig, and sheep to humans, and compare the physiology, inner ear anatomy, and some of their use as model systems for SNHL, including cochlear implantation surgeries. Sheep have similar cochlear anatomy, auditory threshold, neonatal auditory system development, adult and infant body size, and number of birth as humans. Based on these comparisons, we suggest that sheep are well-suited as a potential translational animal model that bridges the gap between rodent model research to the clinical use in humans. This is especially in areas looking at changes across the life-course or in specific areas of experimental investigation such as cochlear implantation and other surgical procedures, biomedical device development and age-related sensorineural hearing loss research. Combined use of small animals for research that require higher throughput and genetic modification and large animals for medical translation could greatly accelerate the overall translation of basic research in the field of auditory neuroscience from bench to clinic.