bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Authors: Rosano Kristen K. , Wegner Daniel J. , Shinawi Marwan , Baldridge Dustin , Bucelli Robert C. , Dahiya Sonika , White Frances V. , Willing Marcia C. , McAllister William , Taft Ryan J. , Bluske Krista , Buchanan Amanda , Cole Francis Sessions , Wambach Jennifer A. 
Published: May 2021

AbstractSpinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from biallelic variants in ASCC1. Here, we describe an infant with severe, diffuse hypotonia, congenital contractures, and pulmonary hypoplasia characteristic of SMABF2, with the unique features of cleft palate, small spleen, transverse liver, and pulmonary thromboemboli with chondroid appearance. This infant also had impaired coagulation with diffuse petechiae and ecchymoses which has only been reported in one other infant with AMC. Using trio whole genome sequencing, our proband was identified to have biallelic variants in ASCC1. Using deep next generation sequencing of parental cDNA, we characterized alteration of splicing encoded by the novel, maternally inherited ASCC1 variant (c.297‐8 T > G) which provides a mechanism for functional pathogenicity. The paternally inherited ASCC1 variant is a rare nonsense variant (c.466C > T; p.Arg156*) that has been previously identified in one other infant with AMC. This report extends the phenotypic characteristics of ASCC1‐associated AMC (SMABF2) and describes a novel intronic variant that partially disrupts RNA splicing.
An early Holocene human skull from Zhaoguo cave, Southwestern China
Authors: Zhang Yameng , Lu Hongliang , Zhang Xinglong , Zhu Mei , He Kunyu , Yuan Haibing , Xing Song 
Published: May 2021

AbstractObjectivesIn this study, we describe a newly excavated early Holocene human cranium from Guizhou, Southwestern China, namely the Zhaoguo M1 (ZG 1). We aim to evaluate its morphological resemblance with Late Pleistocene human, and Northern and Southern China Neolithic populations. We also aim to infer its position in the process of East Asian population regionalization.Materials and MethodsThe ZG 1 skull is almost complete, only missing parts of the right parietal and the basicranium around the foramen magnum. Comparative samples include Late Pleistocene humans and Neolithic populations from Northern and Southern China. Univariate and multivariate analyses are carried out in the study.ResultsZG 1 has a dolichocephalic cranium, wide zygomatic breadth, moderate glabella and supraobtial projection, marked canine fossa, and thin cranial vault. The nasal floor, maximum cranial breadth position, and frontal arc proportion are all congruent with modern human. Statistical analysis suggests that ZG 1's measurements are most similar to those of Southern China Neolithic specimens, with some closer to Late Pleistocene humans.ConclusionZG 1 shows a clear affinity with Southern China Neolithic populations, providing further support that regionalization of morphological variability patterns between Northern and Southern Neolithic populations could have originated at least 10,000 years ago.
Impact of Electrostatic Interaction on Bulk Morphology in Efficient Donor–Acceptor Photovoltaic Blends
Authors: Ma Lijiao , Yao Huifeng , Wang Jingwen , Xu Ye , Gao Mengyuan , Zu Yunfei , Cui Yong , Zhang Shaoqing , Ye Long , Hou Jianhui 
Published: May 2021

AbstractBulk heterojunctions comprising mixed donor (D) and acceptor (A) materials have proven to be the most efficient device structures for organic photovoltaic (OPV) cells. The bulk morphology of such cells plays a key role in charge generation, recombination, and transport, thus determining the device performance. Although numerous studies have discussed the morphology‐performance relationship of these cells, the method of designing OPV materials with the desired morphology remains unclear. Herein, guided by molecular electrostatic potential distributions, we have established a connection between the chemical structure and bulk morphology. We show that the molecular orientation at the D‐A interface and the domain purity in the blend can be effectively modulated by modifying the functional groups. Enhancing the D‐A interaction is beneficial for charge generation. However, the resulting low domain purity and increased charge transfer ratio in its hybridization with the local excitation states lead to severe charge recombination. Fine‐tuning the bulk morphology can give balanced charge generation and recombination, which is crucial for further boosting the efficiency of the OPV cells.
Influence of microfibrillated cellulose and soft biocomponent on the morphology and thermal properties of thermoplastic polyurethanes
Authors: Panaitescu Denis Mihaela , Nicolae Cristian Andi , Melinte Violeta , Scutaru Andreea Laura , Gabor Augusta Raluca , Popa Marius Stelian , Oprea Madalina , Buruiana Tinca 
Published: May 2021

AbstractComposite materials from thermoplastic polyurethanes (TPUs) with biodegradable segments and microfibrillated cellulose (MFC) were developed as alternatives to traditional materials used in packaging or biomedical applications. Two TPUs were synthesized by the prepolymer method starting from different soft segments, poly(ε‐caprolactone)/poly(butylene adipate) (PUBA) or poly(ε‐caprolactone)/poly(ethylene oxide) (PUEO), and isophorone diisocyanate/aliphatic chain extender. Proton nuclear magnetic resonance (1H NMR) confirmed the structure and Fourier transform infrared spectroscopy (FTIR) along with scanning electron microscopy showed that the soft segments with different hydrophobicity led to a higher phase mixing in PUBA and improved microphase separation in PUEO. MFC was added in the TPUs with different soft segments to increase biocompatibility, strength, and degradation rate. A better thermal stability, a gradual increase of crystallinity and a better dispersion of MFC were noticed in PUEO composites compared to PUBA ones. The crystallinity increased with 78% and 50% in PUBA and PUEO composites with 5 wt% MFC compared to the neat polyurethanes showing the nucleating ability of MFC. In addition, the enhanced storage modulus, with 75% and 25% in PUEO and PUBA composites, highlighted the reinforcing efficiency of MFC. Therefore, the addition of MFC to the already synthesized TPUs allows tailoring the morphology and thermal properties of TPUs for industrial application.
Rheological and mechanical properties of dynamic covalent polymers based on imine bond
Authors: Li Xiangyu , Wu Tongfei 
Published: May 2021

AbstractDynamic covalent polymers based on imine bond (FPIs), which are capable of reorganizing their constitution on the molecular level, are prepared from bio‐based dimer fatty acids. The irregular structure of carbon chains in dimer fatty acids leads to the amorphous nature of FPIs. The effect of imine bond on the glass transition temperature of FPIs is studied by differential scanning calorimetry. The linear viscoelasticity of FPIs is investigated by small amplitude oscillatory shear tests and analyzed by using the Likhtman‐McLeish theory. It is found that the rheological behavior of FPIs is similar with that of static, linear entangled polymers predicted by Likhtman‐McLeish theory, when the dynamic chain arrangements caused by imine‐bond exchange is not active enough. For FPIs, the temperature variation of viscosity is still following the Arrhenius law with an activation energy of ~50 kJ mol−1. Owing to the thermal adaptability, FPIs demonstrate great malleability, self‐healing capability and processing stability at elevated temperatures.
Facile preparation of functional and hybrid coatings by precipitations of polypyrrole and lysozyme via co‐assembly process
Authors: Zhou Xing , Song Renfang , Wang Dong , Fang Changqing , Song Yonghua , Yu Ruien , Wang Qiang , Deng Jingrui 
Published: May 2021

AbstractThe integration of biological matters and functional polymers to generate novel hybrids with multi‐functional properties has attracted an increasing attention in organic/organic systems, possessing a great promise for sensor, medical, and materials science applications. In this work, a facile co‐precipitation method was developed to prepare conductive composite via a co‐assembly process with one‐step. Lysozyme was employed as an assembly template, and the pyrrole monomers were polymerized and aggregated with the lysozyme nanoparticles via oxide polymerization, forming a hybrid and functional coating with significant conductivity of ca. 6.7 × 10−5 S. The structure and morphology of the hybrid is performed by X‐ray photoelectron spectroscopy, Fourier transform infrared spectrometer, transmission electron microscopy, field emission scanning electron microscope, and laser scanning confocal microscope, and so on. The results showed that the coating was composed of homogenously and densely hybrid nanoparticles with the diameter of ca. 250 nm, possessing a certain degree of bio‐adhesion from the lysozyme precipitations according to the 3 M peeling test. In addition, the composite performed good infrared radiation shielding property when it was coated onto normal gauze. It suggests that the composite consisting of lysozyme and polypyrrole precipitations in nanoscale may possess significantly potential applications as conductive and shielding materials.
Luminescence Change from Orange to Blue for Zero‐Dimensional Cs2InCl5(H2O) Metal Halides in Water and a New Post‐doping Method
Authors: Yang Chuang , Guo Fengwan , Zhang Yu , Zhong Xinxin , Feng Jing , Wang Nan , Wang Juan 
Published: May 2021

AbstractZero‐dimensional metal halides have attracted much attention due to their attractive photoelectric properties. Here, we propose a new strategy of synthesizing metal halides crystals by recrystallization in water. The as‐synthesized Cs2InCl5(H2O)‐orange crystals are dissolved and recrystallized in water (Cs2InCl5(H2O)‐blue), with its photoluminescence (PL) changing from orange to blue, both of which are derived from self‐trapping excitons (STEs). The time‐resolved photoluminescence (TRPL) spectrum of Cs2InCl5(H2O)‐blue shows that it has an ultralong lifetime up to milliseconds (τ=52.98 ms), which is expected to be applied in biological sensors. The photoluminescence quantum yield (PLQY) increases from 2.25% to 11.61% in the self‐assembly process. By using a post‐doping method, the PL of crystals turns into red when we introduce Mn2+ as dopant while there is no obvious change upon using a traditional solvent‐thermal method. Recrystallization in water and post‐doping provide a new perspective for the synthesis and doping of metal halides.
Hyaluronic acid–graphene quantum dot nanocomposite: Potential target drug delivery and cancer cell imaging
Authors: Vahedi Nasrin , Tabandeh Fatemeh , Mahmoudifard Matin 
Published: May 2021

AbstractNowadays, the use of nanoparticle‐based drug delivery systems has received much more attention. In this regard, here, graphene quantum dots (GQD) were used as drug carriers as well as imaging agents for cancer cells. In order to optimize the dose of the drug and reduce its side effects for healthy cells, hyaluronic acid was decorated on the surface of GQD to target cancer cells. The morphology and size of the synthesized nanoparticles alone and conjugated with hyaluronic acid were investigated using scanning electron microscopy (SEM) and transmission electron microscopy (TEM); TEM images revealed a particles size of ∼5.67 and ∼8.69 nm, respectively. In the presence of 1‐ethyl‐3‐[3(dimethylamino)propyl]carbodiimide hydrochloride/N‐hydroxysuccinimide (EDC/NHS), hyaluronic acid was bounded to dopamine hydrochloride and was prepared to react with GQD. After synthesis of graphene quantum dot‐hyaluronic acid nanocomposite, curcumin (CUR) as a drug model was loaded on the synthesized nanocarriers, and its loading percentage was measured. The results showed that 98.02% of the drug was loaded on the nanocarriers. Also, the conjugation of each agent on the nanocarrier was approved by photoluminescence spectroscopy, Fourier transform infrared spectroscopy (FTIR), and UV–visible absorption techniques, and the results showed that the reactions were performed correctly. The effect of GQD, graphene quantum dot–hyaluronic acid, CUR, graphene quantum dot‐hyaluronic acid–CUR on the viability of HeLa and L929 cells was evaluated by the MTT test. The results showed that the synthesized nanocarrier is completely biocompatible, and the drug nanocarriers reduce HeLa cell viability significantly due to the mediation of hyaluronic acid–CD44 for drug cell uptake. Simultaneously with drug delivery, the other goal of these nanocarriers is to image cancer cells by emitting fluorescent light. Fluorescent microscopy showed that these nanocarriers were adsorbed on HeLa cells, unlike L929 cells.
Natural History as a Family Enterprise: Kinship and Inheritance in Eighteenth‐Century Science**
Authors: Cooper Alix 
Published: May 2021

AbstractAs recent research has shown, many of the activities of early modern (including eighteenth‐century) naturalists were carried out in the household. This article investigates the ways in which family members in particular, both male and female, ended up engaging in kinds of labor which furthered the pursuit of natural history in the eighteenth century. Examining evidence from various different parts of Europe and its colonies, the article argues that natural history can be seen to have often been what might be termed a family enterprise, one to which many different family members might contribute in ways shaped by concerns of kinship and inheritance.
Improvement of quantum efficiency through Gd3+ to Eu3+ energy transfer in YF3 phosphor
Authors: Jaiswal Shailesh R. , Nagpure Pankaj A. , Omanwar Shreeniwas K. 
Published: May 2021

AbstractThis paper reports the energy transfer from Gd3+ to Eu3+ in YF3 and the consequent downconversion luminescence for the YF3:Gd3+, Eu3+ fluoride phosphor. The phosphor was synthesized using a soft chemical route, followed by a reactive atmosphere process. Because of the wide band gap in YF3 and the correct energy site for 8S7/2–6GJ transitions of Gd3+ ions, fluoride YF3 doped with Gd3+−Eu3+ were studied in their vacuum–ultraviolet (VUV) spectral regions. Powder X‐ray diffraction (XRD) analysis showed the structural purity of YF3. VUV excitation and emission properties were explored using a VUV synchrotron radiation beam line. Downconversion of energy from VUV (157 nm) to visible light with quantum efficiency c. 189% was seen. This YF3:Gd3+, Eu3+ phosphor would be an option for mercury‐free fluorescence lamps.
Analysis of alpha‐alumina by variable dose and Tm–TSTOP methods and simulations of the whole process
Authors: Uzun Erdem 
Published: May 2021

AbstractThe Tm–TSTOP and the variable dose methods were applied to alumina experimentally, and then all the steps of the methods were simulated numerically. The Tm–TSTOP experiments were performed between 70 and 300°C, and results showed that the glow curve of the used alumina had six distinct peaks between 40 and 400°C. The glow curves were analyzed using computerized glow curve fitting programs, the analytical equations were also fitted to the experimental data, and the trapping parameters of the peaks were measured. The samples were irradiated above the saturation level to ensure the complete filling of the electron traps and, therefore, the concentrations of traps were measured experimentally. Short‐term anomalous fading behaviours of the peaks were investigated, and a new equation was proposed to compute the anomalous fading rate. In addition, the variable dose and Tm–TSTOP methods were simulated using the six trap‐one recombination centre (6T1C) model and the experimental trapping parameters. Results showed that there was good harmony between numerical and experimental glow curves. After all the simulations were performed with acceptable accuracy, an estimate was made for the trapping coefficients (Ai = 1–6) that could not be measured directly from thermoluminescence experiments. Results showed that the trapping coefficients were affected by the applied dose.
A simple and rapid HPLC method for determination of parabens and their degradation products in pharmaceutical dosage forms
Authors: Katakam Lakshmi Narasimha Rao , Ettaboina Santhosh Kumar , Dongala Thirupathi 
Published: May 2021

AbstractA stability‐indicating HPLC method was developed for the simultaneous determination of paraben mixture and its degradation products in effervescent potassium chloride tablets. The chromatographic separation was achieved on a Waters Cortecs C18 column (2.7 μm, 4.6 × 150 mm) using gradient elution. The optimized mobile phase consisted of 0.1% orthophosphoric acid in purified water as solvent A and purified water, acetonitrile, and orthophosphoric acid (100:900:1, v/v) as solvent B. The flow rate was 0.8 mL/min, and column temperature was maintained at 35°C. The injection volume was 10 μL, and UV detection was carried out at 254 nm. The selectively developed method has optimal separation among p‐hydroxybenzoic acid, methylparaben, ethylparaben, propylparaben, and butylparaben peaks in the presence of specified and unspecified degradation products in the determination of drug product. The mass balance obtained from forced degradation studies was ≥95% and thus proves the stability‐indicating property of the developed method. The developed reversed‐phase HPLC method has been validated according to the International Conference on Harmonization guidelines. The correlation coefficients for all the peaks were >0.9999. The results of the other validation parameters were found within the limits. Finally, the optimized method was used in the quality control lab for stability analysis.
Psychiatric risk and resilience: Plasticity genes and positive mental health
Authors: Nestor Paul G. , Choate Hasler Victoria , O'Donovan Keira , Lapp Hannah E. , Boodai Sara B. , Hunter Richard 
Published: May 2021

AbstractObjectiveThe at‐risk mental state (ARMS) for psychosis has long played a key role in diathesis‐stress models of schizophrenia. More recent studies, however, have called for extending the boundaries of the ARMS construct beyond attenuated psychosis in nonhelp‐seeking samples to include not only other vulnerability indicators but also protective factors related to genotype, mental health, personality, and cognition.MethodAccordingly, we assessed in a sample of 100 college students, the ARMS construct with the Brief Prodromal Questionnaire (PQ‐B) for psychosis, in conjunction with measures of positive mental health, childhood adversity, psychiatric symptoms, personality traits, social cognition, and genetic variables derived from assays of the serotonin transporter (5‐HTTLPR) and the brain‐derived neurotrophic factor (BDNF).ResultsHigher PQ‐B scores correlated positively with vulnerability indicators of childhood adversity and heightened levels of a wide variety of psychiatric symptoms but correlated negatively with protective factors of better overall mental health, social cognition as well as with a distinct NEO profile marked by reduced neuroticism and elevated agreeableness and conscientiousness. Multivariate analyses indicated that a composite ARMS measure comprised of PQ‐B scores plus anxiety and depression symptoms revealed significant genotype differences, with lowest risk and highest resilience for allelic carriers of 5‐HTTLPR‐short and BDNF Met polymorphisms.ConclusionsResults provided support for extending the ARMS construct, pointing to important contributions of personality, social cognition, and genes that support neural plasticity in mitigating vulnerability and enhancing resilience and well‐being.
Decreased survival in patients treated by chemotherapy after targeted therapy compared to immunotherapy in metastatic melanoma
Authors: Mangin Marie‐Alix , Boespflug Amélie , Maucort Boulch Delphine , Vacheron Charles‐Hervé , Carpentier Isabelle , Thomas Luc , Dalle Stéphane 
Published: May 2021

AbstractBackgroundCytotoxic chemotherapy (CC) is currently used in metastatic melanoma after patients have developed resistance to immune checkpoint inhibitors (ICI) and/or Mitogen‐Activated Protein Kinase inhibitors (MAPKi). We sought to evaluate if a previous treatment by ICI or MAPKi influences clinical outcomes in patients treated by CC in metastatic melanoma.MethodsEighty‐eight patients with a metastatic melanoma, treated by CC after a previous treatment by ICI or MAPKi between January 2009 and October 2019, were retrospectively analyzed. Progression‐Free‐Survival (PFS), Overall Survival (OS), Overall Response Rate (ORR), and Disease Control Rate (DCR) were evaluated in patients treated by CC according to their prior treatment by ICI or MAPKi.ResultsPatients treated by CC after ICI tended to have a better median PFS (2.81 months (2.39–5.30) versus 2.40 months (0.91–2.75), p = 0.023), median OS (6.03 months (3.54–11.54) versus 4.44 months (1.54–8.59), p = 0.27), DCR (26.0% vs. 10.5%, p = 0.121) and ORR (22.0% vs. 7.9% p = 0.134) than those previously treated by MAPKi.ConclusionsA prior treatment by an MAPKi may be associated with a worse response to CC than ICI, and further investigations should be performed to confirm if there is a clinical benefit to propose CC in this setting.
Haematologic malignancies with unfavourable gene mutations benefit from donor lymphocyte infusion with/without decitabine for prophylaxis of relapse after allogeneic HSCT: A pilot study
Authors: Zhang Rui , Wang Lili , Chen Peng , Gao Xiaoning , Wang Shuhong , Li Fei , Dou Liping , Gao Chunji , Li Yan , Liu Daihong 
Published: May 2021

AbstractRelapse is the main cause of treatment failure for leukaemia patients with unfavourable gene mutations who receive allogeneic haematopoietic stem cell transplantation (allo‐HSCT). There is no consensus on the indication of donor lymphocyte infusion (DLI) for prophylaxis of relapse after allo‐HSCT. To evaluate the tolerance and efficacy of prophylactic DLI in patients with unfavourable gene mutations such as FLT3‐ITD, TP53, ASXL1, DNMT3A or TET2, we performed a prospective, single‐arm study. Prophylactic use of decitabine followed by DLI was planned in patients with TP53 or epigenetic modifier gene mutations. The prophylaxis was planned in 46 recipients: it was administered in 28 patients and it was not administered in 18 patients due to contraindications. No DLI‐associated pancytopenia was observed. The cumulative incidences of grade II–IV and III–IV acute graft‐versus‐host disease (GVHD) at 100 days post‐DLI were 25.8% and 11.0%, respectively. The rates of chronic GVHD, non‐relapse mortality and relapse at 3 years post‐DLI were 21.6%, 25.0% and 26.1%, respectively. The 3‐year relapse‐free survival and overall survival (OS) rates were 48.9% and 48.2%, respectively. Acute GVHD (HR: 2.30, p = 0.016) and relapse (HR: 2.46, p = 0.003) after DLI were independently associated with inferior OS. Data in the current study showed the feasibility of prophylactic DLI with/without decitabine in the early stage after allo‐HSCT in patients with unfavourable gene mutations.