bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations
Authors: Wei Ming , Ying Yanqin , Li Zhuxi , Weng Ying , Luo Xiaoping 
Published: October 2021

AbstractBackgroundACAN (OMIM 155760) is located on chromosome 15q26 and encodes the production of aggrecan. Aggrecan is a large chondroitin sulfate proteoglycan with a molecular weight of 254 kDa and contains 2530 amino acids. It is a critical structural component of the extracellular matrix of cartilage, including growth plate, articular, and intervertebral disk cartilage. It plays a key role in bone development.MethodsHere, we describe two pedigrees with loss‐of‐function variants in ACAN. Whole exome sequencing was performed for the probands from each family. We illustrate the clinical variability associated with ACAN variants.ResultsThe proband of pedigree A manifested short stature, relative macrocephaly, mild flat nasal bridge, low‐set ears, short neck, and short thumbs. The proband of pedigree B had short height, abnormal vertebral development, and central precocious puberty. By trio‐based whole exome sequencing and in silico analyses, we identified two de novo heterozygous variants of ACAN: NM_013227.4: c.116dupT, p.Arg40Glufs*51 and NM_013227.4: c.2367delC, p.Ser790Glnfs*20 (accession number: AC103982.10).ConclusionThe clinical manifestations of ACAN gene variants are diverse. ACAN gene variants are important genetic factors for short stature and should be considered as the differential diagnosis of children with idiopathic short stature (ISS).
A cross‐sectional study of memory and executive functions in patients with sporadic inclusion body myositis
Authors: Lu Kirsty , Yong Keir X. X. , Skorupinska Iwona , Deriziotis Stephanie , Collins Jessica D. , Henley Susie M. D. , Hanna Michael G. , Rossor Martin N. , Ridha Basil H. , Machado Pedro M. 
Published: October 2021

AbstractIntroduction/AimsSporadic inclusion body myositis (IBM) is a degenerative and inflammatory acquired myopathy characterized by muscle deposition of various proteins typically associated with Alzheimer disease and other neurodegenerative diseases. Although cognitive impairment is not noted as a clinical feature of IBM, evidence is lacking. In this study we investigated whether cognitive performance of patients with IBM differs from population norms, focusing on cognitive domains affected in early Alzheimer disease (memory, executive function), and to test whether disease duration and the level of disability of IBM are associated with cognitive function.MethodsTwenty‐four patients with IBM (mean [standard deviation]: age, 62.0 [7.2] years; disease duration, 9.6 [4.8] years) were assessed cross‐sectionally on neuropsychological tests covering multiple cognitive domains, including the Preclinical Alzheimer Cognitive Composite (PACC). Performance was compared with published normative data adjusted for age, sex, and education (National Alzheimer's Coordinating Center; N = 3268). Associations were examined between PACC score, disease duration, and level of disability (assessed using the IBM Functional Rating Scale [IBMFRS]).ResultsAcross all cognitive tests, group performance was within ±1 standard deviation of the normative mean. There was no evidence of associations between PACC score and either disease duration (ρ = −0.04, P = .87) or IBMFRS total score (ρ = 0.14, P = .52).DiscussionMemory and executive function in patients with IBM did not differ from normative data, and we observed no evidence of associations between the cognitive composite and disease duration or level of disability. This addresses a question frequently asked by patients and will be of value for clinicians and patients alike.
Microcomputed tomography (laboratory and synchrotron) of intact archeological human second metacarpal bones and age at death
Authors: Stock Stuart R. , Mays Simon , Turner‐Walker Gordon , Soriano Carmen 
Published: October 2021

AbstractLaboratory microcomputed tomography (microCT) and synchrotron microCT imaged intact human second metacarpal bones (mc2) from two UK archeological sites: Ancaster (3rd to 4th century CE) and Wharram Percy (11th to 14th century CE). Two female mc2 were studied from each of three age at death cohorts (young, 18–29 years; middle, 30–49 years; old ≥50 years) along with a modern control mc2. The present investigation is complementary with an X‐ray scattering study of the same mc2 where the authors found no age‐at‐death‐related changes in carbonated apatite lattice parameters and found collagen D‐period peaks in the small angle regime in a minority of the mc2. This led the present authors to ask whether microCT could assign mc2 to the age cohort estimated by dental wear and whether material between bioerosion porosity and apparently free of diagenetic changes correlated with presence of strong D period peaks. Lab‐microCT derived values of bone volume fraction BV/TV (bone volume BV divided by total volume TV) for distal and proximal metaphyses provided age estimates that agree with those of dental wear. Cortical microstructure corroborated the BV/TV determination. Synchrotron microCT revealed significant diagenesis in all of the Wharram Percy and two of the Ancaster mc2; the resulting microstructural changes were attributed to microbial attack. The Ancaster mc2 whose microstructure matched that of the modern mc2 had D‐period peaks with intensities matching the modern bone. MicroCT with different voxel sizes was shown, therefore, to be very useful in age determination and in the assessment of 3D diagenetic changes.
Fault detection and diagnosis in photovoltaic panels by radiometric sensors embedded in unmanned aerial vehicles
Authors: Segovia Ramírez Isaac , Das Bikramaditya , García Márquez Fausto Pedro 
Published: October 2021

AbstractPhotovoltaic solar energy is increasing its capacity in the global electric market due to its lower operating costs and higher efficiency, together with the support of the governments. Photovoltaic solar panels require high initial investments, and it is necessary to use advanced and efficient methods that lead to the maintainability and reliability of these systems, extending their life cycle and productivity. New condition monitoring systems are being applied to reduce the cost of inspections and ensure efficient data collection. The main contribution of this paper is a new efficient and low‐cost condition monitoring system based on radiometric sensors. The thermal patterns of the main photovoltaic faults (hot spot, fault cell, open circuit, bypass diode, and polarization) are studied in real photovoltaic panels. Different scenarios are considered, analyzing online the main patterns of the faults by Internet of Things. The accuracies of the results are statistically analyzed and compared with fault‐free scenarios. The validation of the approach is done by thermographic analysis of the experiments and employing a different radiometric sensor. The detection of faults with statistical analysis is achieved in 100% of the cases, and the identification of the specific fault in 96% of the scenarios. An artificial neural network and classification learner algorithms are employed to validate the results, obtaining similar results for fault identification, 95% and 94%, respectively, and 100% for fault detection.
Biomimetic double network hydrogels: Combining dynamic and static crosslinks to enable biofabrication and control cell‐matrix interactions
Authors: Aldana Ana A. , Morgan Francis L. C. , Houben Sofie , Pitet Louis M. , Moroni Lorenzo , Baker Matthew B. 
Published: October 2021

AbstractHydrogels are promising candidates for recapitulation of the native extracellular matrix (ECM), yet recreating molecular and spatiotemporal complexity within a single network remains a challenge. Double network (DN) hydrogels are a promising step towards recapitulating the multicomponent ECM and have enhanced mechanical properties. Here, we investigate DNs based on dynamic covalent and covalent bonds to mimic the dynamicity of the ECM and enable biofabrication. We also investigate the spatiotemporal molecular attachment of a bioactive adhesive peptide within the networks. Using oxidized alginate (dynamic network, Schiff base) and polyethylene glycol diacrylate (static network, acrylate polymerization) we find an optimized procedure, where the dynamic network is formed first, followed by the static network. This initial dynamically cross‐linked hydrogel imparts self‐healing, injectability, and 3D printability, while the subsequent DN hydrogel improves the stability of the 3D gels and imparts toughness. Rheology and compression testing show that the toughening is due to the combination of energy dissipation (dynamic network) and elasticity (static network). Furthermore, where we place adhesive sites in the network matters; we find distinct differences when an adhesive peptide, Arg‐Gly‐Asp (RGD), is attached to the different networks. This DN strategy bring us closer to understanding and recreating the complex multicomponent ECM—pushing us past a materials view of cell adhesion—while enabling injectabiltiy and printing of tough hydrogels.
Monitoring process variability using decile mean standard deviation
Authors: Abu‐Shawiesh Moustafa Omar Ahmed , Saeed Nadia 
Published: October 2021

AbstractThe control charts are essential tools in order to monitor the process quality as well as are used in numerous industries. The classical Shewhart S‐control chart is the most prevalent control chart in Statistical Process Control (SPC) for assessing changes in process over time. This paper modifies the S‐control chart by proposing SDDM‐control chart based on the SDDM (decile mean standard deviation), which presume that the quality function is monitored normally. The traditional and proposed control charts’ performances under study are evaluated via a Monte‐Carlo simulation study by estimating expected widths (EW) as well as expected out‐of‐control points (EPO). In the simulation, the average out of control run length (ARL1) is considered the best method for analyzing sensitivity of the control charts. The outcomes of the simulation analysis revealed that the proposed SDDM‐control chart is well performed and very close contender of the classical S‐control chart insofar that the improvement in process variability is very similar to that of the S‐control chart. In addition, the architecture layout of the proposed SDDM‐control chart is more powerful than the conventional S‐control chart for the smaller sample size value (n) that is the most realistic situation in SPC applications. Hence the proposed chart is equally compatible for shift detection under normal process. In case of abnormal processes, the proposed SDDM‐control limits are less affected by the presence of outliers. A real‐life dataset is evaluated to help our observations from the simulation analysis for illustrative purposes. Consequently, the SDDM version of the S‐control chart is recommended to be used by the practitioners in various fields of industry, engineering, medical and physical sciences.
Pulmonary alveolar proteinosis with an unusual bronchoscopic complication
Authors: Sweeney Duncan J. , Munsif Maitri , Pilcher David , Stirling Rob G. , Leong Tracy L. 
Published: October 2021

AbstractPulmonary alveolar proteinosis (PAP) is a rare respiratory syndrome, which can be challenging to diagnose given its non‐specific presentation and imaging findings. While most primary cases of PAP have an autoimmune basis, the triggers for the disease are uncertain with occupational factors increasingly thought to be important. We report the unusual complication of pneumomediastinum and bilateral pneumothoraces following endobronchial ultrasound‐guided transbronchial needle aspirate in the setting of PAP. We discuss the possible physiological mechanisms of this complication, which appears to be more common in conditions with reduced lung compliance.
Entrectinib forROS1‐rearranged non‐small cell lung cancer after crizotinib‐induced interstitial lung disease: A case report
Authors: Tanimura Mai , Kataoka Nobutaka , Kunimatsu Yusuke , Tsutsumi Rei , Sato Izumi , Nakano Takayuki , Tanimura Keiko , Takeda Takayuki 
Published: October 2021

AbstractChromosomal rearrangements involving the c‐ros oncogene 1 (ROS1) are identified in approximately 1% of non‐small cell lung cancer (NSCLC) patients. Crizotinib is the first tyrosine kinase inhibitor (TKI) againstROS1‐rearranged NSCLC. G2032R, a secondary resistant mutation, is observed in 41% of patients treated with crizotinib. Entrectinib, a TKI against neurotrophic tropomyosin receptor kinase, is reportedly efficacious againstROS1‐rearranged NSCLC. However,ROS1‐G2032R is resistant to entrectinib both in vitro and in vivo. We report an 85‐year‐old female patient withROS1‐rearranged NSCLC, who developed drug‐induced interstitial lung disease (DI‐ILD) 2 months after crizotinib treatment, and was treated with prednisolone followed by entrectinib. Entrectinib treatment resulted in stable disease with a marginal response after a partial response to crizotinib. Entrectinib treatment following crizotinib cessation due to DI‐ILD was efficacious, which suggested thatROS1‐G2032R gatekeeper mutation, frequently observed in crizotinib‐resistant disease, was absent.
Exponential synchronization of inertial neural network with mixed delays via intermittent pinning control
Authors: Hui Meng , Yan Jiefei , Zhang Jiao , Iu Herbert Ho‐Ching , Yao Rui , Bai Lin 
Published: October 2021

AbstractThis article considers the problem of exponential synchronization of inertial neural networks (INNs) with mixed delays via a novel hybrid control scheme consisting of pinning and periodic intermittent control. Both the discrete delay and distributed delay are taken into account in the network model. Through the proper variable substitution, the original system is transferred into a simply formed differential equation. Meantime, some new sufficient conditions are derived by the Lyapunov stability theory for the exponential synchronization of INNs. Eventually, numerical simulations are given to present the effectiveness of the theoretical method.
Wearable Bifocal Contact Lens for Continual Glucose Monitoring Integrated with Smartphone Readers
Authors: Elsherif Mohamed , Alam Fahad , Salih Ahmed E. , AlQattan Bader , Yetisen Ali K. , Butt Haider 
Published: October 2021

AbstractCommercial implantable continuous glucose monitoring devices are invasive and discomfort. Here, a minimally‐invasive glucose detection system is developed to provide quantitative glucose measurements continually based on bifocal contact lenses. A glucose‐sensitive phenylboronic acid derivative is immobilized in a hydrogel matrix and the surface of the hydrogel is imprinted with a Fresnel lens. The glucose‐responsive hydrogel is attached to a commercial soft contact lens to be transformed into a bifocal contact lens. The contact lens showed bifocal lengths; far‐field focal length originated from the contact lens’ curvature, and near‐field focal length resulting from the Fresnel lens. When tear glucose increased, the refractive index and groove depth of the Fresnel lens changed, shifting the near‐field focal length and the light focusing efficiency. The recorded optical signals are detected at an identical distance far from the contact lens change. The bifocal contact lens allowed for detecting the tear glucose concentration within the physiological range of healthy individuals and diabetics (0.0–3.3 mm). The contact lens rapidly responded to glucose concentration changes and reached 90% of equilibrium within 40 min. The bifocal contact lens is a wearable diagnostic platform for continual biomarker detection at point‐of‐care settings.
3D MOF Nanoarchitecture Membrane via Ultrafast Laser Nanoforging
Authors: Liu Xingtao , An Licong , Xiang Sen , Jiang Haoqing , Cheng Gary J. 
Published: October 2021

AbstractMetal‐organic framework (MOF) crystals are useful in a vast area of applications because of their unique chemical and physical properties. Manufacturing of an integrated MOF membrane with 3D nanoarchitectures on the surface is especially important for their applications. However, as MOF crystals usually exist as powdery crystals, fabrication of their large area, monolithic, and high‐resolution patterns is challenging. Here, it is found that isolated MOF nanocrystals could be directly converted to a monolithic MOF film with designed 3D nanoarchitectures/patterns via an ultrafast laser induced nanoforging without binders. During the nanosecond laser shock, the voids among MOF nanocrystals are eliminated due to the surface amorphization effect, which allows the fusing of the MOF nanocrystals on the grain boundaries, leading to the formation of a dense film while preserving the nature of the pristine MOF. The high strain rate by laser enhances formability of MOFs and overcomes their brittleness to generate arbitrary 3D nanoarchitectures with feature sizes down to 100 nm and high productivity up to 80 cm2 min–1. These 3D MOF nanoarchitectures also exhibit boosted mechanical strength up to 100% compared with their powdery particles. This method is facile and low‐cost and could potentially be used in various fields, such as devices, separation, and biochemical applications.
Valvuloplasty in 103 fetuses with critical aortic stenosis: outcome and new predictors for postnatal circulation
Authors: Tulzer A. , Arzt W. , Gitter R. , Sames‐Dolzer E. , Kreuzer M. , Mair R. , Tulzer G. 
Published: October 2021

ABSTRACTObjectivesTo review our experience with fetal aortic valvuloplasty (FAV) in fetuses with critical aortic stenosis (CAS) and evolving hypoplastic left heart syndrome (eHLHS), including short‐ and medium‐term postnatal outcome, and to refine selection criteria for FAV by identifying preprocedural predictors of biventricular (BV) outcome.MethodsThis was a retrospective review of all fetuses with CAS and eHLHS undergoing FAV at our center between December 2001 and September 2020. Echocardiograms and patient charts were analyzed for pre‐FAV ventricular and valvular dimensions and hemodynamics and for postnatal procedures and outcomes. The primary endpoints were type of circulation 28 days after birth and at 1 year of age. Classification and regression‐tree analysis was performed to investigate the predictive capacity of pre‐FAV parameters for BV circulation at 1 year of age.ResultsDuring the study period, 103 fetuses underwent 125 FAVs at our center, of which 87.4% had a technically successful procedure. Technical success per fetus was higher in the more recent period (from 2014) than in the earlier period (96.2% (51/53) vs 78.0% (39/50); P = 0.0068). Eighty fetuses were liveborn after successful intervention and received further treatment. BV outcome at 1 year of age was achieved in 55% of liveborn patients in our cohort after successful FAV, which is significantly higher than the BV‐outcome rate (23.7%) in a previously published natural history cohort fulfilling the same criteria for eHLHS (P = 0.0015). Decision‐tree analysis based on the ratio of right to left ventricular (RV/LV) length combined with LV pressure (mitral valve regurgitation maximum velocity (MR‐Vmax)) had a sensitivity of 96.97% and a specificity of 94.44% for predicting BV outcome without signs of pulmonary arterial hypertension at 1 year of age. The highest probability for a BV outcome was reached for fetuses with a pre‐FAV RV/LV length ratio of < 1.094 (96.4%) and for those fetuses with a RV/LV length ratio ≥ 1.094 to < 1.135 combined with a MR‐Vmax of ≥ 3.14 m/s (100%).ConclusionsFAV could be performed with high success rates and an acceptable risk with improving results after a learning curve. Pre‐FAV RV/LV length ratio combined with LV pressure estimates were able to predict a successful BV outcome at 1 year of age with high sensitivity and specificity. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Citizens’ Assemblies and Juries on Climate Change: Lessons from Their Use in Practice
Authors: Wells Rebecca 
Published: October 2021

HighlightsCitizen assemblies and juries (CAJs) must meet generally accepted standards and be citizen-led to genuinely and credibly engage citizens. Agreed implementation and follow-up procedures should be established to ensure CAJs legitimately inform policymaking. CAJs are not a panacea to public participation on climate change and much more needs to be done beyond them.
The Envirolution Revolution: Raising Awareness of Climate Change Creatively Through Free and Accessible Community Engagement Festivals
Authors: Walley Bob , Crowther Ami , Yáñez Serrano Paloma , Nekkache Abderrahim , Cepeda Rui , Chakrabarti Debapriya , Boadu Eugene 
Published: October 2021

HighlightsThe use of Freirean praxis and pedagogy is a powerful lens to use in understanding, and advancing, impactful place-based climate action. Using non-judgemental and holistic approaches, free community festivals have the capacity to engage large sections of society and therefore have the potential to mobilise shifts towards societal change.
Conclusions: What Innovations Resulted from University–School Collaborations During the COVID-19 Pandemic?
Authors: Reimers Fernando M. , Marmolejo Francisco 
Published: October 2021

AbstractBased on a cross-case analysis of the studies presented in this book, this study concludes that during the COVID-19 pandemic, universities engaged with school systems and school networks to sustain educational opportunity. They did so through entrepreneurial educational innovation in ways which helped integrate their research, teaching, and outreach functions. This finding speaks to the nature of universities as learning organizations, open to their external environment, not just to respond to changes in it, but to shape it.This chapter identifies seven innovations that universities advanced in their collaborations with schools:

Research and analysis to support decision-makers in formulating strategies of educational continuity (outreach and research).

Advancing knowledge based on research in schools in the context of the pandemic (research).

Instructional and technological resources and online platforms for students and teachers, including efforts to support connectivity (outreach and teaching).

Professional development for teachers, education administrators, and parents (outreach).

Highlighting the importance of attention to socio-emotional support for students (outreach).

Organizational learning and innovation (synergies among research, teaching, and outreach).

Innovations in teaching: Engaging university students in these collaborations with schools (teaching).

These seven innovations include products, solutions, processes, and managerial improvements, and for the most part they are evolutionary innovations and, in some cases, revolutionary.These collaborations were facilitated by and, in turn, reinforced three institutional processes supportive of outreach:

University mission and strategy

Collaboration and institutional integration

Structures and preexisting collaborations with schools
Reimagine Elementary and Secondary Learning During the Pandemic: Tsinghua University
Authors: Wang Deyu Woody , Cheng Weihang , Jin Yun , Guo Manwen Ivy 
Published: October 2021

AbstractNew technologies inspire the reforms in education. A global pandemic that kept people including students and teachers in their homes only accelerated the progress of adopting new ways for students to learn and for teachers to teach. This chapter presents two programs carried out by Tsinghua University and Tsinghua University High School to provide adequate learning experience for students even when they cannot attend school physically. The merits of the two programs are not only reflected in the new content students learned, but also emphasized by the fact that students from distant areas and diverse backgrounds can form online learning communities that continue to exist after the pandemic. Finally, how teachers inspired undergraduates to act as peer learners for younger students is also inspected and discussed here.