bluuebunny/crossref_metadata_2025_split huggingface dataset:
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods
Authors: Gurunathan Sharavana , Sebastian Jessica , Baker Jennifer , Abdel‐Hamid Hoda Z. , West Shawn C. , Feingold Brian , Peche Vivek , Reyes‐Múgica Miguel , Madan‐Khetarpal Suneeta , Field Jeffrey 
Published: December 2021

AbstractNemaline Myopathy (NM) is a disorder of skeletal muscles caused by mutations in sarcomere proteins and characterized by accumulation of microscopic rod or thread‐like structures (nemaline bodies) in skeletal muscles. Patients diagnosed with both NM and infantile cardiomyopathy are very rare. A male infant presented, within the first few hours of life, with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. A muscle biopsy on the 8th day of life from the right sternocleidomastoid muscle identified nemaline rods. Whole exome sequencing identified a c.1288 delT (homozygous pathogenic variant) in the CAP2 gene (NM_006366), yielding a CAP2 protein (NP_006357.1) with a p.C430fs. Both parents were heterozygous for the same variant but have no history of heart or muscle disease. Analysis of patient derived fibroblasts and cardiomyocytes derived from induced pluripotent stem cells confirmed the p.C430fs mutation (pathogenic variant), which appears to cause loss of both CAP2 protein and mRNA. The CAP2 gene encodes cyclase associated protein 2, an actin monomer binding and filament depolymerizing protein and CAP2 knockout mice develop severe dilated cardiomyopathy and muscle weakness. The patient underwent a heart transplant at 1 year of age. Heart tissue explanted at that time also showed nemaline rods and additionally disintegration of the myofibrillar structure. Other extra cardiac concerns include mild hypotonia, atrophic and widened scarring. This is the first description of a patient presenting with nemaline myopathy associated with a pathogenic variant of CAP2.
Uncovering the hidden history of transpacific contact between Latin America, the Caribbean, and Asia through skeletal population genetics
Authors: Godde Kanya , Rangel González Miriam 
Published: December 2021

AbstractObjectivesThe long history of contact between Latin America, the Caribbean, and Asia extending back to the 16th century has only recently been focused upon in the literature, documenting the intersection of their population histories. Specifically, Chinese laborers immigrated to work in a variety of occupations in the region, along with Japanese workers and those of other Asian nationalities. In this study, we seek to uncover these hidden relationships and hypothesize that Latin American and Caribbean populations will show a close affinity to Asian populations due to a shared population history extending from the 16th century and later.Materials and methodsUsing a population structure approach with craniometrics, we analyzed samples of modern individuals from Panamá, Cuba, China, and Japan, using Mahalanobis D2, principal coordinates analysis (PCoA), canonical variates analysis (CVA), minimum Fst, and an R matrix.ResultsThe results from the population structure analyses are consistent with more recent contact between Latin America, the Caribbean, and Asia as they cluster together on 3D plots and population genetics parameters align with knowledge of contact among these populations.ConclusionsTranspacific contact between Latin America, the Caribbean, and Asia in the 16th–20th centuries is detailed, showing an extensive trade network and evidence of Asian migrations into Latin America and the Caribbean that may be under‐enumerated in the censuses. The population signal in the craniometric data closely follow documented events with Asian populations in Panamá and Cuba in the 19th and 20th centuries, as well as the construction of the Asian Latina/o identity.
Diazapentabenzocorannulenium: A Hydrophilic/Biophilic Cationic Buckybowl
Authors: Li Qiang‐Qiang , Hamamoto Yosuke , Kwek Germain , Xing Bengang , Li Yongxin , Ito Shingo 
Published: December 2021

AbstractPolycyclic aromatic molecules are promising functional materials for a wide range of applications, especially in organic electronics. However, their largely hydrophobic nature has impeded further applications. As such, imparting high solubility/hydrophilicity to polycyclic aromatic molecules leads to a breakthrough in this research field. Herein, we report the synthesis of diazapentabenzocorannulenium, a cationic nitrogen‐embedded buckybowl bearing a central imidazolium core, by a bottom‐up strategy from polycyclic aromatic azomethine ylide. X‐ray crystallography analyses have revealed a bowl‐shaped molecular structure that is capable of forming charge‐segregated one‐dimensional columns by bowl‐in‐bowl packing. In addition to its fluorescence capabilities and high dispersibility in water, the molecule was found to selectively localize in the mitochondria of various tumor cells, showing potential as viable mitochondria‐selective fluorescent probes.
Architecture of chitosan chains withsulfur‐dopedcarbon dots along with decoratingCeO2nanoparticles for the photocatalytic application
Authors: Shahabi Nejad Mohaddeseh , Sheibani Hassan 
Published: December 2021

AbstractDiazinon insecticide from the group of phosphorus pesticides is widely used in pest control. This pesticide can seep into water resources from used agricultural areas and pose a threat to the environment. An economical method to eliminate of pesticides is the degradation in the presence of sunlight, which intensifies the need to design and manufacture new generation photocatalysts with suitable bandgaps to accelerate the process of optical degradation. Nanopolymers with active optical properties can be helpful in this regard In the present study, a new generation of nanopolymers was synthesized by cross‐linking of chitosan with nitrogen and sulfur‐doped carbon dots. In the following, the prepared nanopolymer was decorated and reinforced with nanoceria and confirmation of the structure was done by different techniques such as Fourier transform infrared (FT‐IR), scanning electron microscopy (SEM), energy‐dispersive X‐ray spectroscopy (EDX), thermogravimetric (TGA), and X‐ray diffraction (XRD) After that, the photocatalyst's ability to optically degrade the diazinon organophosphorus toxin was evaluated which yielded promising results.
Synthesis of novel calixarene‐based intumescent flame retardant and application of flame retardant epoxy resin
Authors: Zhang Dingran , Lu Lingang , Chen Lei , Wang Yiqi 
Published: December 2021

AbstractA new intumescent flame retardant containing APP, MEL and p‐tert‐Butylcalix[4]arene was synthesized and added to epoxy (EP) resin in different proportions with aluminum hydroxide (ATH). The flame retardancy, thermal stability and smoke suppression of flame retardant EP composites were studied. When adding 20% APP to EP matrix, the limiting oxygen index can reach 30.5%. After adding synergist ATH, the amount of char residue in air at 700°C increased significantly from 0.83% to 15.80%, indicating that its heat resistance and oxidation resistance were improved. In terms of peak heat release rate (pHRR), the pHRR of ATH synergistic flame‐retardant EP composites can be reduced to 128.53 kW/m2 (EP3), which is much lower than pure EP and FR/EP composites, indicating that FR and ATH has a good synergistic flame retardant effect. For the stable carbon layer produced, on the one hand, it can block the release of combustible gas, and on the other hand, it can function as heat insulation and oxygen barrier inside the matrix.
In‐reactor blends based on ultrahigh molecular weight polyethylene: Effect of microstructure of modifying fraction on the morphology and viscoelastic behavior of blends
Authors: Ushakova Tatiana , Starchak Elena , Krasheninnikov Vadim , Shcherbina Maxim , Gostev Sergey , Novokshonova Ludmila 
Published: December 2021

AbstractA morphology and viscoelastic behavior of a wide range of in‐reactor blends (RBs) on the base of ultrahigh molecular weight polyethylene (UHMWPE) with Mw = 1000 kg mol−1 and polymer fractions of different microstructure were investigated to develop the understanding of relationships between the structure and properties of polyolefin materials. Linear low‐molecular weight polyethylene of high density (LMWPE) with Mw = 160 kg mol−1 as well as ethylene/1‐hexene copolymers (CEH‐n) containing from 3 to 19 mol% of 1‐hexene were used as the components of RBs. In‐reactor blends UHMWPE/CEH‐n and UHMWPE/LMWPE with a varied content of CEH‐n or LMWPE fractions were prepared in the two‐step polymerization processes of ethylene homo‐ and copolymerization over metallocene catalyst. It was found by the methods of differential scanning calorimetry (DSC) and Wide Angle X ray Scattering (WAXS) methods, that the percentages of crystalline and amorphous phases and the lamella sizes in the materials depend on the nature and amount of modifying polymer fractions. Linear dependences of α‐relaxation temperature on the lamella sizes in crystalline phase and β‐relaxation temperature on the density of butyl branches in copolymer fractions of in‐reactor blends UHMWPE/CEH‐n were found by the method of dynamic mechanical analysis (DMA) method. The mechanisms of the processes of α‐ and β‐relaxations in the in‐reactor blends including polymer fractions with different microstructure are discussed.
Preparation of an oxyalkylated lignin‐g‐polylactic acid copolymer to improve the compatibility of an organosolv lignin in blended poly(lactic acid) films
Authors: Gu Qiang , Eberhardt Thomas L. , Shao Jingjing , Pan Hui 
Published: December 2021

AbstractTo improve the compatibility of an organosolv lignin (OL) in polylactic acid (PLA) blends, a green approach was pursued whereby the lignin was modified with propylene carbonate (PC) to increase its aliphatic hydroxyl content, and thereby, its reactivity. The oxyalkylated organosolv lignin (OOL, synthesized at 170°C) was analyzed by quantitative 31P NMR and showed the number of phenolic hydroxyls decreased from 4.73 to 0.16 mmol·g−1, and the number of aliphatic hydroxyls increased from 3.56 to 3.92 mmol·g−1. OOL‐g‐PLA copolymer (OOLPC) samples were prepared by graft polymerization of L‐lactide with the OOL and showed the molecular weights (Mn) to range from 12,343 to 16,834 Da, increasing with the lignin loading of the copolymer. Scanning electron microscope indicated that the graft copolymerization reaction between L‐lactide and the OOL afforded a copolymer that was compatible with PLA. The highest increase in elongation at break was 7.43% for the PLA blend films prepared with the OOLPC having a 5.0% loading of OOL; the tensile strength at this level of lignin loading was 12.03% lower. Introducing an OL into the blend films showed excellent ultraviolet absorption ability and thus the OOLPC could be used as a well‐dispersed UV‐blocking agent for biocompatible packaging materials.
1,5‐Benzodiazepines as a platform for the design of carbonic anhydrase inhibitors
Authors: Ismail Chiraz , Nocentini Alessio , Supuran Claudiu T. , Winum Jean‐Yves , Gharbi Rafik 
Published: December 2021

AbstractA series of novel N‐triazolo‐benzene sulfonamides‐1,5‐benzodiazepines 9a–d and 10d were designed and prepared through the copper‐catalyzed azide alkyne cycloaddition click chemistry procedure, reacting the N1‐propargyl‐1,5‐benzodiazepine 2 and the N1,N5‐dipropargyl analog 6 with various benzene sulfonamide azides 8a–d. The synthesized compounds were found to show nanomolar affinity toward relevant isoforms of human carbonic anhydrase such as hCA I, II, IV, VII, IX, and XII. The divalent derivative 10d showed a particularly high inhibitory activity against all hCA isoforms when compared with acetazolamide, and showed potent multivalent effects, better than reported previously for divalent CA inhibitors.
Universal design for learning in anatomy education of healthcare students: A scoping review
Authors: Dempsey Audrey M. K. , Lone Mutahira , Nolan Yvonne M. , Hunt Eithne 
Published: December 2021

AbstractThere are concerns among healthcare practitioners about poor anatomical knowledge among recent healthcare graduates. Universal Design for Learning (UDL) is a framework developed to enhance students' experience of learning and help students to become motivated learners. This scoping review identified whether UDL has been utilized in third level healthcare education and if so, whether it had been used to enhance student motivation to study anatomy. Seven online databases were searched for studies reporting the use of UDL in the curricula of medical, dental, occupational therapy (OT) or speech and language therapy (SLT) programs. Studies were screened for eligibility with set inclusion criteria. Data were extracted and analyzed. Analysis revealed that UDL was not specifically mentioned in any of the studies thus there are no published studies on UDL being formally applied in healthcare education. However, the authors identified 33 publications that described teaching methods which aligned with UDL in anatomy curricula and a thematic analysis yielded four main themes relating to teaching strategies being employed. Universal design for learning was not mentioned specifically, indicating that educators may not be aware of the educational framework, although they appeared to be utilizing aspects of it in their teaching. The review revealed that there is a lack of research concerning the anatomy education of OT and SLT students. The role of UDL in enhancing motivation to learn anatomy in medical, dental, OT and SLT programs has yet to be explored.
One‐ and two‐sided monitoring schemes for BINARCH(1) processes
Authors: Anastasopoulou Maria , Rakitzis Athanasios C. 
Published: December 2021

AbstractIn this article we propose and study one‐ and two‐sided control charts for monitoring a first order binomial integer‐valued ARCH process. This model can be used for modeling integer‐valued time series of counts with a finite support, which also exhibit overdispersion. We consider Shewhart as well as exponentially weighted moving average control charts. The performance of both schemes is investigated for various shifts in process parameters, which result in an upward or a downward shift in process mean level. Practical guidelines concerning the statistical design of the proposed charts are given as well. The case of two‐sided control charts is also considered. Finally, we describe the implementation of the proposed schemes by using a real dataset about the monthly inflation of the Eurozone members.
Parallel age‐related cognitive effects in autism: A cross‐sectional replication study
Authors: Torenvliet Carolien , Groenman Annabeth P. , Radhoe Tulsi A. , Agelink van Rentergem Joost A. , Van der Putten Wikke J. , Geurts Hilde M. 
Published: December 2021

AbstractFindings on age‐related cognitive effects in autism in adulthood are inconsistent across studies. As these studies substantially differ in their methodology, replication studies are needed. In this replication study frequentist (i.e., null‐hypothesis significance testing), and Bayesian statistics were used to investigate the hypothesis that in autistic adults compared to non‐autistic adults mostly parallel, but also protective age‐related cognitive effects can be observed. Participants were 88 autistic adults, and 88 non‐autistic matched comparisons (age range: 30–89 years, mean age: 55 years). Cognitive measures were administered on the following six domains: verbal memory, visual memory, working memory, Theory of Mind (ToM), verbal fluency, and processing speed, and self‐reported cognitive failures. Non‐autistic adults outperformed autistic adults on ToM, verbal fluency, and verbal memory, but only the first two were confirmed with Bayesian replication analyses. Also, more cognitive failures were reported by autistic adults. No interactions between group and age were observed, suggesting a parallel age‐related effect on all cognitive domains. In sum, previously observed difficulties in ToM and verbal fluency were replicated which seem to persist at older age. Previously reported parallel age‐related cognitive patterns were replicated, yet no evidence for protective age‐related patterns was found.Lay summaryWe investigated whether our previous findings on cognitive aging in autism could be confirmed in a new study measuring the cognitive effects of age in autistic and non‐autistic adults. As expected, tasks that younger autistic adults had difficulties with (theory of mind, fluency) were also difficult for older autistic adults, and the effect of age itself was similar in autistic and non‐autistic adults. Unexpectedly, we observed no protective effects (less cognitive aging) in autism.
Evaluation of the binding effect and cytotoxicity assay of 2‐Ethyl‐5‐(4‐methylphenyl) pyramido pyrazole ophthalazine trione on calf thymus DNA: spectroscopic, calorimetric, and molecular dynamics approaches
Authors: Marjani Narges , Dareini Maryam , Asadzade‐Lotfabad Maryam , Pejhan Mahtab , Mokaberi Parisa , Amiri‐Tehranizadeh Zeinab , Saberi Mohammad Reza , Chamani Jamshidkhan 
Published: December 2021

AbstractWith advances in new drug therapies, it is essential to understand the interactions between drugs and target molecules. In this study, we applied multiple spectroscopic techniques including absorbance, fluorescence, circular dichroism spectroscopy, viscosity, thermal melting, calorimetric, and molecular dynamics (MD) simulation to study the interaction between 2‐Ethyl‐5‐(4‐methylphenyl) pyramido pyrazole ophthalazine trione (PPF) and calf thymus DNA (ct DNA) in the absence or presence of histone H1. PPF exhibits a high binding affinity towards ct DNA in binary and ternary systems. In addition, the result for the binding constant was observed within the range 104 M−1 achieved through fluorescence quenching data, while the values for enthalpy and entropy changes for ct DNA–PPF and (ct DNA–H1) PPF complexes were measured to be −72.54 kJ.mol−1, −161.14 J.mol−1 K−1, −85.34 kJ.mol−1, and −19.023 J.mol−1 K−1, respectively. Furthermore, in accordance with circular dichroism spectra, the inducement of ct DNA structural changes was observed during binding of PPF and H1 in binary and ternary system forms. The essential roles of hydrogen bonding and van der Waals forces throughout the interaction were suggested using thermodynamic parameters. According to the obtained data, the interaction mode of ct DNA–PPF and (ct DNA–H1) PPF complexes was intercalation binding. Suggested by the MD simulation study, the ct DNA–H1 complex caused a reduction in the stability of the DNA structure in the presence or absence of ligand, which demonstrated that PPF as an intercalating agent can further distort the structure. The information achieved from this study will be very helpful in understanding the effects of PPF on the conformational state of ct DNA in the absence or presence of the H1 molecule, which seems to be quite significant for clarifying the mechanisms of action and its pharmacokinetics.
Relaxation time of brain tissue in the elderly assessed by synthetic MRI
Authors: Ndengera Martin , Delattre Bénédicte M. A. , Scheffler Max , Lövblad Karl‐Olof , Meling Torstein R. , Vargas Maria Isabel 
Published: December 2021

AbstractBackgroundSynthetic MRI (SyMRI) is a quantitative technique that allows measurements of T1 and T2 relaxation times (RTs). Brain RT evolution across lifespan is well described for the younger population. The aim was to study RTs of brain parenchyma in a healthy geriatric population in order to define the normal value of structures in this group population. Normal values for geriatric population could help find biomarker for age‐related brain disease.Materials and methodsFifty‐four normal‐functioning individuals (22 females, 32 males) with mean age of 83 years (range 56–98) underwent SyMRI. RT values in manually defined ROIs (centrum semiovale, middle cerebellar peduncles, thalamus, and insular cortex) and in segmented whole‐brain components (brain parenchyma, gray matter, white matter, myelin, CSF, and stromal structures) were extracted from the SyMRI segmentation software. Patients' results were combined into the group age. Main ROI‐based and whole‐brain results were compared for the all dataset and for age group results as well.ResultsFor white matter, RTs between ROI‐based analyses and whole‐brain results for T2 and for T1 were statistically different and a trend of increasing T1 in centrum semiovale and cerebellar peduncle was observed. For gray matter, thalamic T1 was statistically different from insular T1. A difference was also found between left and right insula (p < .0001). T1 RTs of ROI‐based and whole‐brain‐based analyses were statistically different (p < .0001). No significant difference in T1 and T2 was found between age groups on ROI‐based analysis, but T1 in centrum semiovale and thalamus increased with age. No statistical difference between age groups was found for the various segmented volumes except for myelin between 65–74 years of age and the 95–105 years of age groups (p = .038).ConclusionsSyMRI is a new tool that allows faster imaging and permits to obtain quantitative T1 and T2. By defining RT values of different brain components of normal‐functioning elderly individuals, this technique may be used as a biomarker for clinical disorders like dementia.
Association of PTPRT mutations with immune checkpoint inhibitors response and outcome in melanoma and non‐small cell lung cancer
Authors: Zhang Wenjing , Shi Fuyan , Kong Yujia , Li Yuting , Sheng Chao , Wang Suzhen , Wang Qinghua 
Published: December 2021

AbstractPurposeProtein tyrosine phosphatase receptor type T (PTPRT), which is a well‐known phosphatase and mutates frequently in melanoma and non‐small cell lung cancer (NSCLC). Our research aims to elucidate its mutation association with immune checkpoint inhibitors (ICI) efficacy.MethodsWe integrated whole‐exome sequencing (WES)‐based somatic mutation profiles and clinical characteristics of 631 melanoma samples received ICI agents from eight studies and 109 NSCLC samples from two studies. For validation, 321 melanoma and 350 NSCLC immunotherapy samples with targeted next‐generation sequencing (NGS) were employed. Besides, an independent NSCLC cohort contained 240 samples was also collected for further corroboration. Distinct immune infiltration was evaluated according to the PTPRT mutational status.ResultsIn the WES melanoma cohort, patients with PTPRT mutations harbored a significantly elevated ICI response rate (40.5% vs. 28.6%, p = 0.036) and a prolonged survival outcome (35.3 vs. 24.9 months, p = 0.006). In the WES NSCLC cohort, the favorable response and immunotherapy survival were also observed in PTPRT‐mutated patients (p = 0.036 and 0.019, respectively). For the validation cohorts, the associations of PTRPT mutations with better prognoses were identified in melanoma, NSCLC, and pan‐cancer patients with targeted‐NGS (all p < 0.05). Moreover, immunology analyses showed the higher mutation burden, increased lymphocyte infiltration, decreased‐ activated‐stroma, and immune response pathways were detected in patients with PTPRT mutations.ConclusionOur investigation indicates that PTPRT mutations may be considered as a potential indicator for assessing ICI efficacy in melanoma and NSCLC, even across multiple cancers. Further prospective validation cohorts are warranted.