bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel COL4A5 mutation in preimplantation genetic diagnosis of a patient with Alport syndrom
Authors: Hu Rui , Ma Xiaoling , Su Anchen , Mao Bin , Shi Xin , Yang Yuan 
Published: March 2022

Abstract
Purpose We report a novel gene mutation in a female patient with Alport syndrome who was planning to undergo assisted reproduction to achieve pregnancy. We performed pathogenicity analysis on the mutation and selected a suitable assisted reproductive technology solution for the patient.Methods A retrospective analysis of clinical and genetic data of a patient with Alport syndrome was performed. Whole-exome data of the COL4A5 gene of the patient’s family were analyzed using Sanger sequencing and online software was used to predict the conservation and pathogenicity of mutant amino acids within species evolution.Results The patient planned assisted reproductive technology due to secondary infertility and unexplained hematuria. Urine test results revealed 60% severely deformed red blood cells, indicating persistent glomerular hematuria. Renal biopsy revealed that the basement membrane was of varying thickness, with a thickened dense layer, some of which was tear-like and arachnoid. Foot processes showed segmented fusion and the basement membrane was torn under electron microscopy. Genetic analysis revealed an unnamed mutation in the COL4A5 gene, c.3188G>A, which resulted in amino acid changes (p.Gly1063Asp). This was verified as a new mutation not present in the parents, whereas the daughter had a heterozygous mutation. Biological information analysis revealed the mutation was pathogenic and preimplantation genetic diagnosis was adopted. Eventually the patient gave birth to a full-term daughter without the gene mutationConclusion Genetic testing prior to pregnancy is recommended in Alport syndrome patients or family members prior to pregnancy to determine the specific location of the gene mutation. Patients should receive genetic counseling, fertility guidance, and assisted reproduction advice from experts in heredity.
Analysis of euploidy rates between D5 and D6 embryos by morphology grades and time-lapse algorithms in PGT-A treatments
Authors: Yuan Zhenya , Yuan Mu , Song Xuemei , Huang Xiaojie , Yan Weiqiao 
Published: March 2022

Abstract
In conventional in vitro fertilization (IVF) treatments, the euploidy of the embryos is unpredictable before transfer. Previous studies have suggested that parameters including female age, morphological grade, development speed of the embryos and KIDScore™ in time-lapse monitoring (TLM) system are correlated with euploidy of embryos, but their predictive ability remains controversial. In this study, pre-implantation genetic testing for aneuploidy (PGT-A) results were used to detect the euploidy of the embryos, and it was found that the female age, morphological grade, KIDScore™ and development speed of the embryos were correlated with the euploidy of embryos. These results can provide a basis for the selection of euploidy embryos in conventional IVF treatments.
Identifying Reliable Neural Components and P300 Latency using Correlated Component Analysis
Authors: Gupta Cota Navin , Hazarika Kalpajyoti 
Published: March 2022

Abstract
This paper applies Correlated component analysis (CorrCA) to extract the reliable and maximally correlated P300 component. Trials collected over time during an oddball electroencephalogram (EEG) experiment are first segregated into the target and non-target trial cohorts. CorrCA was then applied to both cohorts separately. Event related potential (ERP) image plots of CorrCA components from target trials showed a coherent structure for P300 latency around 400 ms when compared to plots of single electrode (Cz) trials. A difference in peak amplitude of 0.37 micro volts was observed between averaged first CorrCA component and averaged target trials at Cz electrode for able bodied subjects. Inter trial Correlation (ITC) obtained using CorrCA algorithm is applied to detect subjects who performed poorly during the oddball experiment. We also used a forward model considering sixteen channels to identify the spatial patterns of neural activity for both able and disabled subjects. It was observed that disabled subjects illustrated lower neural activation during target trials in most brain areas when compared to able-bodied subjects.
Phosphodiesterase 4 D gene polymorphisms and Risk of Ischemic Stroke: a systematic review and meta-analysis
Authors: Nath Manabesh , Swarnkar Priyanka , Kumar Amit , Misra Shubham , Kumar Praadep 
Published: March 2022

Abstract
Background and purpose: Studies on Phosphodiesterase 4 D (PDE4D) gene polymorphism and its association with ischemic stroke (IS) risk have discordant results. The present meta-analysis investigated the relationship between PDE4D gene polymorphism with IS risk. Methods: A comprehensive literature search for all the published articles was performed in various electronic databases, including PubMed, EMbase, Cochrane Library, Trip Database, Worldwide Science, CINAHL, and Google Scholar up to 22nd December 2021. Pooled Odds ratios (ORs) with 95% Confidence Intervals (CIs) under dominant, recessive, and allelic models were calculated. Subgroup analysis based on ethnicity (Caucasian vs. Asian) was performed to examine the reliability of these findings. Results: In our meta-analysis, we identified 47 case-control studies with 20644 ischemic stroke (IS) cases and 23201 control subjects, including 17 studies of Caucasian descent and 30 studies of Asian descent. Our findings suggest that there was a significant relationship between SNP45 gene polymorphism and risk of IS (Recessive model: OR=2.06, 95% CI=1.31-3.23), SNP83 overall (allelic model: OR=1.22, 95% CI=1.04- 1.42), Asian (allelic model: OR=1.20, 95% CI= 1.05-1.37), and SNP89 Asian (Dominant model: OR=1.43, 95% CI=1.29-1.59, recessive model: OR=1.42, 95% CI=1.28-1.58) respectively. However, no significant relationship was found between ­­­­­­­­SNP32, SNP41, SNP26, SNP56, and SNP87 gene polymorphisms and risk of IS. Conclusion: Findings of this meta-analysis conclude that SNP45, SNP83, and SNP89 polymorphism could be capable of increasing stroke susceptibility in Asians but not in the Caucasian population. Genotyping of SNP 45, 83, 89 polymorphisms may be used as a predictor for IS occurrence.
Macrophage-derived TGF-βand VEGF promote the progression of trauma-induced heterotopic ossification
Authors: Tu Bing , Li Juehong , Sun Ziyang , Zhang Tongtong , Liu Hang , Yuan Feng , Fan Cunyi 
Published: March 2022

Abstract
ObjectiveHeterotopic ossification (HO) is a pathological bone formation process caused by musculoskeletal trauma. Our previous studies have indicated that macrophage inflammation is involved in traumatic HO formation. In this study, we validated the functional roles of M2 macrophages in HO.MethodsMacrophage Infiltration and activation of TGF-β/Smad2/3 signaling were examined in human HO tissues. By using a mice traumatic HO model, the effect of macrophages on HO progression was tested. Then the roles of angiogenesis and TGF-β signaling were elevated following macrophages depletion. Finally, the subtypes of macrophages were determined by FACS.ResultsWe found that macrophage infiltration and TGF-βsignaling activation are presented in human HO. Depletion of macrophages effectively suppressed traumatic HO formation in a mice model, and macrophage depletion significantly inhibited the activation of TGF-β/Smad2/3 signaling. In addition, the TGF-β blockade created by a neutralizing antibody impeded ectopic bone formation in vivo. Notably, endochondral ossification and angiogenesis are attenuated following macrophage depletion or TGF-β inhibition. Furthermore, our observations on macrophage polarization revealed that M2 macrophages, rather than M1 macrophages, play a critical role in supporting HO development by enhancing the osteogenic and chondrogenic differentiation of mesenchymal stem cells. ConclusionOur findings on ectopic bone formation in HO patients and the mice model indicate that M2 macrophages are an important contributor for HO development, and that inhibition of M2 polarization or TGF-β activity may be a potential method of therapy for traumatic HO.
Development of a multi faceted platform containing a tetrazine, fluorophore and chelator: synthesis, characterization, radiolabeling, and immuno-SPECT imaging
Authors: McDonagh Anthony W. , McNeil Brooke L. , Rousseau Julie , Roberts Ryan J. , Merkens Helen , Yang Hua , Bénard François , Ramogida Caterina F 
Published: March 2022

Abstract
Background

Combining optical (fluorescence) imaging with nuclear imaging has the potential to offer a powerful tool in personal health care, where nuclear imaging offers in vivo functional whole-body visualization, and the fluorescence modality may be used for image-guided tumour resection. Varying chemical strategies have been exploited to fuse both modalities into one molecular entity. When radiometals are employed in nuclear imaging, a chelator is typically inserted into the molecule to facilitate radiolabeling; the availability of the chelator further expands the potential use of these platforms for targeted radionuclide therapy if a therapeutic radiometal is employed. Herein, a novel mixed modality scaffold which contains a tetrazine (Tz) – for biomolecule conjugation, fluorophore – for optical imaging, and chelator – for radiometal incorporation, in one construct is presented. The novel platform was characterized for its fluorescence properties, radiolabeled with single-photon emission computed tomography (SPECT) isotope indium-111 ( 111 In 3+ ) and therapeutic alpha emitter actinium-225 ( 225 Ac 3+ ). Both radiolabels were conjugated in vitro to TCO-modified trastuzumab; biodistribution and immuno-SPECT imaging of the former conjugate was assessed.

Results

Key to the success of the platform synthesis was incorporation of a 4,4’-dicyano-BODIPY fluorophore. The route gives access to an advanced intermediate where final chelator-incorporated compounds can be easily accessed in one step prior to radiolabeling or biomolecule conjugation. The DOTA (1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid) conjugate was prepared, displayed good fluorescence properties, and was successfully radiolabeled with 111 In & 225 Ac in high radiochemical yield. Both complexes were then separately conjugated in vitro to trans-cyclooctene (TCO) modified trastuzumab through an inverse electron demand Diels-Alder (IEDDA) reaction with the Tz. Pilot small animal in vivo immuno-SPECT imaging with [ 111 In]In-DO3A-BODIPY-Tz-TCO-trastuzumab was also conducted and exhibited high tumor uptake (21.2 ± 5.6%ID/g 6 days post-injection) with low uptake in non-target tissues.

Conclusions

The novel platform shows promise as a multi-modal probe for theranostic applications. In particular, access to an advanced synthetic intermediate where tailored chelators can be incorporated in the last step of synthesis expands the potential use of the scaffold to other radiometals. Future studies including validation of ex vivo fluorescence imaging and exploiting the pre-targeting approach available through the IEDDA reaction are warranted.
A Bayesian network model to predict the role of hospital noise, annoyance, and sensitivity in quality of patient care
Authors: Abbasi Milad , Yazdanirad Saied , Zokaei Mojtaba , Falahati Mohsen , Eyvazzadeh Nazila 
Published: March 2022

Abstract
Background
Hospital noise can threaten nurses' health, their cognitive function and emotion and in turn, influence the quality of patient care and patient safety. The aim of this study was to predict the role hospital noise, annoyance, and sensitivity in quality of patient care.
Methods
This descriptive and cross-sectional study was carried out among nurses in an Iranian hospital. To determine nurses' noise exposure level, the noise was measured in the 1510 points in the hospital in accordance with ISO 9612 using KIMO DB 300/2 sound level meter and analyzer. Then, an online survey was conducted to collect individual data. The applied questionnaires were a demographic questionnaire, Weinstein noise sensitivity scale, noise annoyance scale, and quality patient care scale. Finally, to analyze data, Bayesian Networks (BNs), as probabilistic and graphical models were used.
Results
For the high noise exposure, high noise sensitivity, and high annoyance with the probability of 100%, the probability of desirable quality of patient care decreased by 21, 14, and 23 percent, respectively. Moreover, at the concurrently high noise exposure and high noise sensitivity with the probability of 100%, the desirable quality of patient care decreased by 26%. The most effective mean values belonged to the association of noise exposure and annoyance (0.636). Moreover, the annoyance had highest association with the physical aspect (0.400) and the sensitivity had greatest association with the communication aspect (0.283).
Conclusion
Annoyance induced from noise and sensitivity affected the quality of patient care adversely. Moreover, noise and sensitivity had a separate direct adverse effect upon the quality of patient care and their coincidence occurrence reduced the quality of patient care potentially.
Do children and adolescents with cerebral palsy from Argentina and Germany grow differently?
Authors: Brünner Maria de las Mercedes Ruiz , Cuestas Eduardo , von Kries Rüdiger , Brooks Jordan , Wright Charlotte , Heinen Florian , Schroeder Sebastian 
Published: March 2022

Abstract
Purpose: To analyze growth patterns of children with CP between countries; to examine differences in growth; and to assess the fit of growth charts. Methods: Cross-sectional study in children with CP from 2 to 19 years old, 399 from Argentina and 400 from Germany. Growth measures were converted into z-scores and compared to WHO reference and US CP growth charts. Generalized Linear Model was used to analyze the growth expressed as mean z-scores. Results: 799 children. Mean age 9 years (± 4). Compared to the WHO reference, the decrease in Height z-scores (HAZ) with age in Argentina (-0.144/year) was double that in Germany (−0.073/year). For children in GMFCS IV-V, BMI z-scores (BMIz) decreased with age (−0.102/year).Using the US CP charts, both countries showed decreasing HAZ with age, in Argentina (−0.066/year) and in Germany (−0.032/year). BMIZ increased more among children with feeding tubes (0.062/year), similar in both countries. Argentinian children with oral feeding decrease their Weight z-score (WAZ) by −0.553 compared to their peers.With WHO charts BMIZ presented an excellent fit for GMFCS I-III. HAZ presents a poor fit to growth references. BMIZ and WAZ presented a good fit to US CP Charts.Conclusions: Growth differences due to ethnicity also act in children with CP, and are related to motor impairment, age and feeding modality, possibly reflecting differences in environment or health care.
Ataluren Binds to Multiple Protein Synthesis Apparatus Sites and Competitively Inhibits Release Factor Dependent Termination
Authors: Huang Shijie , Bhattacharya Arpan , Ghelfi Mikel , Li Hong , Fritsch Clark , Chenoweth David , Goldman Yale , Cooperman Barry 
Published: March 2022

Abstract
Genetic diseases are often caused by nonsense mutations, but only one TRID (translation readthrough inducing drug), ataluren, has been approved for clinical use. Ataluren inhibits release factor complex (RFC) termination activity, while not affecting productive binding of near-cognate ternary complex (TC, aa-tRNA.eEF1A.GTP). Here we use photoaffinity labeling to identify two sites of ataluren binding within rRNA, proximal to the decoding center (DC) and the peptidyl transfer center (PTC) of the ribosome, which are directly responsible for ataluren inhibition of termination activity. A third site, within the RFC, has as yet unclear functional consequences. Using single molecule and ensemble fluorescence assays we also demonstrate that termination proceeds via rapid RFC-dependent hydrolysis of peptidyl-tRNA followed by slow release of peptide and tRNA from the ribosome. Ataluren is an apparent competitive inhibitor of productive RFC binding, acting at or before the hydrolysis step. We conclude that designing more potent TRIDs which retain ataluren’s low toxicity should target areas of the RFC binding site proximal to the DC and PTC which do not overlap the TC binding site.
Paleoenvironment and paleoclimate of the Late Cretaceous Ise Formation, Eastern Dahomey Basin.
Authors: Oshomoji Adeoye Olugbemi , Ndukwe Otobong Sunday , Omosanya Kamaldeen O. L. , Lawal M. A. 
Published: March 2022

Abstract
The paleoenvironment and paleoclimate of the Ise Formation remain poorly understood, despite its importance for the Late Cretaceous paleoenvironment and geology of the Dahomey Basin and Africa in general. This is due to the paucity of outcrops and drilled samples of the formation. This study investigates the paleoenvironmental and paleoclimatic setting of the Ise Formation through sedimentological and palynological analyses of fifty sediment samples. The sediments were recovered from four exposed sections of the formation, three of which are recently exposed, in the Eastern Dahomey Basin, SW Nigeria. The examined sediments are largely coarse-grained, poorly sorted, gravelly-sand to sandy-gravels, and are dominated by spores and pollens. The Laevigatosporites sp. and the Sapotaceae sp. are the most abundant spores and pollens in the sediments while minor occurrences of Monocolpites sp., Cyathidites minor, Retitricolporites sp., and Spinizonocolpites sp. were recovered. Concentricytes sp. was the only algae recovered, while microforaminiferal wall lining was the only foraminifera recovered. Textural properties of the sediments indicate textural immaturity and proximity to the source area. The occurrence of Monocolite sp., Foveotriletes margaritae, Echitriporites trianguliforms, Cyathidites, and Longapertites sp. indicate a Maastrichtian to Early Paleocene age for the Ise Formation. The vegetation cover was mainly mangrove with palms, shrubs, and forests, while the environment of deposition was swamp to marginal nearshore. A dominant mild to warm tropical climate during the deposition of the formation was inferred based on the recovery of Retitricolporites sp., Monocolpites marginatus, Sapotaceae sp., and Spinozonocolpites sp. from the samples. These conclusions support the hypothesis of a regional shallow environment setting during the Maastrichtian and a warm regional climate in Africa during the Early Paleocene.
Effect of five-weeks participation in The Daily Mile on cognitive function, physical fitness, and body composition in children
Authors: Dring Karah J. , Hatch Lorna A. , Williams Ryan , Morris John. G , Sunderland Caroline , Nevill Mary. E , Cooper Simon B. 
Published: March 2022

Abstract
Objective
To determine the effect of five-weeks participation in The Daily Mile on cognitive function, physical fitness, and adiposity.
Methods
In a quasi-experimental study, one class from each school completed The Daily Mile (n = 44), or acted as a control group (n = 35). Baseline measures included cognitive function tests (Stroop test, Sternberg paradigm, Flanker task), physical fitness (multi-stage fitness test) and body composition (BMI percentile, waist:hip circumference, sum of skinfolds). The intervention group completed five-weeks of The Daily Mile. Follow-up measurements were completed within 48-h of the last training session. Data were analysed via ANCOVA, examining between group differences at follow-up, controlling for baseline values.
Results
Response times on the complex Stroop test were faster at follow-up in the intervention group (Intervention: 1357 ms [1280–1400 ms]; Control: 1463 ms, [1410–1523 ms], p = 0.048). There was no effect of The Daily Mile on the Sternberg paradigm or Flanker test. Physical fitness was greater at follow-up in the intervention group (Intervention: 880 m, [820–940 m]; Control: 740- m, [680–800 m], p = 0.002). There was no effect of the intervention on adiposity.
Conclusion
Five-weeks of The Daily Mile enhanced inhibitory control and physical fitness in children, but did not affect working memory, attention, or adiposity.
Student Performance Prediction Using Machine Learning Techniques
Authors: El-Hafeez Tarek Abd , Omar Ahmed 
Published: March 2022

Abstract
With the emergence of the covid 19 pandemic, E-learning usage was the only way to solve the problem of study interruption in educational institutions and universities. Therefore, this field has garnered significant attention in recent times. In this paper, we used ten machine-learning algorithms (Logistic Regression, Decision Tree, Random Forest, SGD Classifier, Multinomial NB, K-Neighbors Classifier, Ridge Classifier, Nearest Centroid, Complement NB and Bernoulli NB) to build a prediction system based on artificial intelligence techniques to predict the difficulties students face in using the e-learning management system, and support related decision-making. Which, in turn, contributes to supporting the sustainable development of technology at the university. From the results obtained, we found the important factors that affect the use of E-learning to solve students' learning difficulties by using LMS.
DCSO: Towards an Ontology for Machine-actionable Data Management Plans
Authors: Cardoso João , Castro Leyla J. , Ekaputra Fajar J. , Jacquemot Marie C. , Suchánek Marek , Miksa Tomasz , Borbinha José 
Published: March 2022

Abstract
The concept of Data Management Plan (DMP) has emerged as a fundamental tool to help researchers through the systematical management of data. The Research Data Alliance DMP Common Standard (DCS) working group developed a core set of universal concepts characterising a DMP in the pursuit of producing a DMP as a machine-actionable information artefact, i.e.,machine-actionable Data Management Plan (maDMP). The technology-agnostic approach of the current maDMP specification: (i) does not explicitly link to related data models or ontologies, (ii) has no standardised way to describe controlled vocabularies, and (iii) is extensible, but has no clear mechanism to distinguish between the core specification and its extensions. Currently, the maDMP specification provides a JSON serialisation and schema to operationalise the approach. Such approach, however, does not address the concerns above. This paper reports on the community effort to create the DMP Common Standard Ontology (DCSO) as a serialisation of the DCS core concepts, with a particular focus on a detailed description of the components of the ontology. Our initial result shows that the proposed DCSO can become a suitable candidate for a reference serialisation of the DMP Common Standard.