bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family
Authors: Khan Atta Ullah , Khan Ibrar , Khan Muhammad Ismail , Latif Muhammad , Siddiqui Muhammad Imran , Khan Shafi Ullah , Htar Thet Thet , Wahid Ghazala , Ullah Ikram , Bibi Fehmida , Khan Asifullah , Naseer Muhammad Imran , Seo Go Hun , Jelani Musharraf 
Published: June 2022

AbstractMitochondrial protein synthesis requires three elongation factors including EF‐Tu (TUFM; OMIM 602389), EF‐Ts (TSFM; OMIM 604723), and EF‐G1 (GFM1; OMIM 606639). Pathogenic variants in any of these three members result in defective mitochondrial translation which can impart an oxidative phosphorylation (OXPHOS) deficiency. In this study, we investigated a consanguineous Pakhtun Pakistani family. There were four affected siblings at the time of this study and one affected girl had died in infancy. The index patient had severe intellectual disability, global developmental delay, dystonia, no speech development, feeding difficulties, and nystagmus. MRI brain presented thinning of corpus callosum and polymicrogyria. Whole exome sequencing revealed a novel compound heterozygous variant in GFM1 located on chromosome 3q25.32. Sanger sequencing confirmed recessive segregation of the maternal (NM_001308164.1:c.409G > A; p.Val137Met) and paternal (NM_001308164.1:c.1880G > A; p.Arg627Gln) variants in all the four affected siblings. These variants are classified as “likely‐pathogenic” according to the recommendation of ACMG/AMP guideline. GFM1 alterations mostly lead to severe phenotypes and the patients may die in early neonatal life; however, four of the affected siblings had survived till the ages of 10–17 years, without developing any life‐threatening conditions. Mostly, in cousin marriages, the pathogenic variants are identical‐by‐descent, and affected siblings born to such parents are homozygous. Three homozygous variants were shortlisted in the analysis of the WES data, but Sanger sequencing did not confirm their segregation with the disease phenotype. This is the first report from Pakistan expanding pathogenicity of GFM1 gene.
Organic Selenocyanates: Rapid Advancements and Applicationsin the Field of Organic Chemistry
Authors: Karmaker Pran Gopal , Huo Feng 
Published: June 2022

AbstractThe incorporation of the cyanato‐chalcogen group (OCN, SCN, and SeCN) has piqued the interest of many researchers in the field of modern organic synthetic chemistry. Methodologies for selenocyanation are far less advanced than those for OCN and SCN chemistry due to the scarcity of SeCN transfer reagents and synthetic approaches. It has also been discovered that the selenocyanate precursor (SeCN) performs significantly better than the thiocyanate (SCN) precursor in terms of pharmacological properties of organic scaffolds. Recent years, new reagents (nucleophilic, electrophilic, radical) and techniques were introduced that allowed the creation of the selenocyanato group uncomplicatedly under gentle reaction conditions, particularly in transition metal catalysis and photo‐/electro‐chemically influenced reactions, which were seemingly unimaginable. In this review, we have categorized a variety of techniques using various types of selenocyanate regents and their applications in the last decades, focusing on multiple catalysts for the preparation of organic selenocyanates and their derivatives.
Methacrylic copolymers with quinoxaline chromophores in the side chain exhibiting quadratic nonlinear optical response
Authors: Vakhonina Tatyana A. , Fazleeva Guzel M. , Kalinin Alexey A. , Gaysin Adel I. , Shmelev Artemiy G. , Islamova Liliya N. , Fominykh Olga D. , Sharipova Anastasiya V. , Shalin Nikita I. , Mukhtarov Anvar S. , Khamatgalimov Ayrat R. , Balakina Marina Yu. 
Published: June 2022

AbstractThe first example of polymer materials containing in the side chain original D‐π‐A chromophore with quinoxaline core in the π‐electron bridge is presented and their quadratic nonlinear optical (NLO) activity is studied. Two synthetic procedures: esterification and radical copolymerization, are used to obtain methacrylic copolymers P1Ch and P2Ch, respectively, which contain chromophores with quinoxaline moiety in various concentrations (4, 6, 7, and 9 mol%). Atomistic modeling has shown that introduction of chromophores in polymer side chains results in less pronounced chromophore aggregation in the material compared with the case of relative composites. NLO coefficients of the thin films obtained on the basis of copolymers P1Ch and P2Ch and composite material PMMA/AEEA‐VQV‐TCF with relative chromophore‐guest are up to 40, 21, and 43 pm/V, respectively, at chromophore content 25 wt%. Covalent attachment of chromophore moiety to the polymer side chain is shown to improve the temporal and thermal stability of the material NLO coefficient compared with that of the composite material.
Stearoylamido‐D‐Glucamine Hydrogelators for Thixotropic Molecular Gels with Tunable Softness by Chemical Modification
Authors: Ohsedo Yutaka 
Published: June 2022

AbstractLow‐molecular‐weight hydrogelators containing stearoyl, glycine, and D‐glucamine moieties with or without methyl groups were synthesized to prepare chemically tuned molecular hydrogels. To evaluate the role of hydrogen bonding of hydrogelators in molecular hydrogel formation, the author has newly synthesized hydrogelators with or without methyl groups at their N−H in amide groups, contributing to the hydrogen bond formation in fiber in molecular hydrogels. The obtained hydrogels exhibited improved thixotropic performance with tunable softness, exhibiting pseudo‐reversible thixotropic cycles that depended on the methyl substitution positions in the hydrogelators. To change the hydrogen bonds′ positions by chemical modification has made it possible to tune the mechanical properties of molecular gels.
Prognostic features and comprehensive genomic analysis of NF1 mutations in EGFR mutant lung cancer patients
Authors: Tian Hong‐xia , Chen Zhi‐hong , Jie Guang‐Ling , Wang Zhen , Yan Hong‐hong , Wu Si‐pei , Zhang Shui‐lian , Lu Dan‐xia , Zhang Xu‐chao , Wu Yi‐long 
Published: June 2022

AbstractObjectiveNF1 is a tumor suppressor gene that encodes the neurofibromin protein and negatively regulates Ras signaling. This study was aimed to investigate the molecular, clinical characteristics, and prognostic features of NF1 gene in EGFR mutant lung cancer patients.MethodThe next‐generation sequencing (NGS) was used to analyze the data from lung cancer patients in the Guangdong Lung Cancer Institute (GLCI) from June 2016 to December 2020.ResultsSomatic NF1 mutations were present in 4.2% (135/3220) of Chinese lung cancer patients. NF1 mutations where clearly enriched in older (p < 0.001), male (p < 0.001), and smoking (p < 0.001) patients. Patients with NF1 mutations were more likely to have TP53 (p = 0.003), BRAF (p = 0.001) and RASA1 (p = 0.026) mutations and mutually exclusive with EGFR mutations (p = 0.006). TP53 mutation had worsen prognosis in cases of NF1 mutant (p = 0.026) or EGFR/NF1 co‐mutant (p = 0.031) lung adenocarcinomas (LUAD) patients. There was no effect on overall survival (OS) in LUAD patients with and without NF1 mutations, even in LUAD driver‐gene negative patients. NF1/EGFR co‐mutation patients had a longer OS than a single mutation of either the EGFR gene (median OS: 47.7 m vs. 30.2 m, hazard ratio [95% CI], 0.47 [0.30–0.74], p = 0.004) or NF1 gene (47.7 m vs. 19.0 m, 0.44 [0.27–0.73], p = 0.003). Furthermore, NF1 mutations significantly prolonged OS in EGFR mutant/TP53 wild‐type LUAD patients (106.5 m vs. 25.5 m, 0.28 [0.13–0.59], p = 0.003) but not in patients with EGFR/TP53 co‐mutations (36.8 m vs. 30.2 m, 0.70 [0.39–1.26], p = 0.280).ConclusionOur results indicated NF1 mutations served as a good prognostic factor in EGFR mutant/TP53 wild‐type lung cancer patients in this single‐center study. TP53 mutation was obviously enriched in NF1 mutant patients and had shorter OS.
A comprehensive analysis of Glasgow Prognostic Score (GPS)/the modified Glasgow Prognostic Score (mGPS) on immune checkpoint inhibitor efficacy among patients with advanced cancer
Authors: Zhang Yongchao , Chen Shanshan , Chen Hualei , Li Wei 
Published: June 2022

AbstractBackgroundThe association between Glasgow Prognostic Score (GPS) and the modified Glasgow Prognostic Score (mGPS) and clinical outcomes in patients receiving immune checkpoint inhibitors (ICIs) remains controversial. Thus, this meta‐analysis aimed to examine the prognostic performance of GPS and mGPS in patients treated with ICIs.MethodsEligible studies were retrieved from searches of EMBASE, PubMed, Web of Science, and Cochrane Library until July 2021. The hazard ratio (HR) and 95% confidence intervals (CIs) were pooled by using fixed‐effect or random‐effects model to evaluate the influence of GPS/mGPS on overall survival (OS) and progression‐free survival (PFS).ResultsA total of 1164 patients were included. Overall, mGPS score of 2 and 1 were related to inferior OS (p < 0.001) and PFS (p < 0.001). Subgroup analyses showed no significant association between mGPS score of 1 and OS in patients with non‐small cell lung cancer (NSCLC), while this score was significantly associated with poor PFS in patients with NSCLC and head and neck squamous cell carcinoma. Higher GPS (score of 1 or 2) were associated with poor clinical outcomes (OS: p < 0.001; PFS: p = 0.036). Subgroup analysis showed high GPS levels were linked to worse OS in patients with NSCLC and gastric cancer, but not for PFS in these patients. Regarding test time point, GPS was related to worse OS and PFS in pre‐treatment GPS group, but not in post‐treatment GPS group.ConclusionGPS and mGPS showed great potential to predict survival in patients treated with ICIs. Large and perspective trial are warranted to further validate these findings.
Multiagency safeguarding arrangements during and beyond the Covid‐19 pandemic: Identifying shared learning
Authors: Driscoll Jenny , Hutchinson Aisha , Lorek Ann , Stride Christopher , Kiss Katrina 
Published: June 2022

AbstractMeasures to combat transmission of the coronavirus presented unprecedented challenges for safeguarding and child protection practice, including through withdrawal of routine opportunities to observe and engage with children and families and disruption of systems for inter‐agency communication and coordination. This article reports on a two‐stage study designed to identify shared learning from adaptations to professional practice in response to the measures. Interviews with 67 London‐based senior safeguarding leads from seven professional groups undertaken during the summer of 2020 informed an England‐wide survey to similar groups in February–March 2021. SPSS was used to analyse 417 responses, which were supplemented by answers to open questions. Findings are reported using the six practice themes which the Child Safeguarding Practice Review Panel expects to inform shared learning to improve safeguarding at national and local levels. The study revealed the formidable barriers facing professionals in understanding the changing environments in which children were living and in identifying and assessing new or altered risks due to the pandemic; steps taken to respond to changing risks and to keep in touch and re‐engage families; strategies to support critical thinking and challenge among professionals working under unprecedented pressure; and opportunities for enhanced multiagency working and inter‐agency collaboration.
Social prescribing: A narrative review of how community engagement can improve wellbeing in later life
Authors: Bild Elena , Pachana Nancy A. 
Published: June 2022

AbstractSocial prescribing is being proposed by policy makers as a solution to primarily address lowered wellbeing and increased loneliness in older adults. Previous reviews have found a lack of supporting evidence for social prescribing. However, these reviews were using a narrow definition which may have left out some important evaluations. Therefore, this review aims to evaluate the evidence for social prescribing programs using a broader definition to encompasses a variety of referral pathways and activities. The review was conducted by searching PsycINFO, PubMed, Scopus, and ProQuest Social Sciences databases, and a final 77 articles were included. We found that there were five main themes in the outcomes reported: social connection; improvement in the management of health and health status; improvement in mental health and wellbeing; life enrichment; and link worker support. Social prescribing programs appeared to have generally positive impacts however there was a large variety in both programs reported and quality of the research, which made drawing definitive conclusions difficult. Researchers evaluating programs in future should attempt to recruit larger sample sizes and use a mixed methods approach to further examine the evidence base for social prescribing.
Design, Synthesis and Anti‐Tumor Activity Evaluation of Novel 3,4‐(Methylenedioxy)cinnamic Acid Amide‐Dithiocarbamate Derivatives
Authors: Guo Jie , Cheng Maojun , Liu Peng , Cao Duanyuan , Luo Jinchong , Wan Yang , Wang Rikang , Fang Yuanying , Jin Yi , Zhang Zhipeng , Xie Sai‐Sai , Liu Jing 
Published: June 2022

AbstractThe fragments, 3,4‐(methylenedioxy)cinnamic acid amide and dithiocarbamates, have received increasing attention because of their multiple pharmacological activities in recent years, especially in anti‐tumor. We synthesized 17 novel 3,4‐(methylenedioxy)cinnamic acid amide‐dithiocarbamate derivatives based on the principle of pharmacophore assembly and discovered that compound 4a7 displayed the most potent antiproliferative activity against HeLa cells with IC50 value of 1.01 μM. Further mechanistic studies revealed that 4a7 triggered apoptosis in HeLa cells via activating mitochondria‐mediated intrinsic pathways and effectively inhibited colony formation. Also, 4a7 had the ability to arrest cell cycle in the G2/M phase as well as to inhibit the migration in HeLa cells. More importantly, acute toxicity experiments showed that 4a7 had good safety in vivo. All the results suggested that compound 4a7 might serve as a promising lead compound that merited further attention in future anti‐tumor drug discovery.
Composite Solid Electrolyte for High Voltage Solid‐State Li‐Metal Battery
Authors: Balasubramaniam Ramkumar , Nam Chan‐Woo , Aravindan Vanchiappan , Seol Jae‐chang , Ajeya Kanalli V. , Jung Ho‐Young , Lee Yun‐Sung 
Published: June 2022

AbstractA composite solid electrolyte (CSE) was prepared by incorporating Li7La3Zr2O12 (LLZO) particles, lithium bis(trifluoromethanesulfonyl) imide (LiTFSI), and different concentrations of a solid plasticizer in a poly(vinylidene fluoride hexafluoropropylene) (PVDF‐HFP) matrix. Subsequently, we investigated the ionic conductivity and electrochemical stability of the CSE, and its interfacial compatibility with a Li‐metal electrode. 30 wt.% plasticizer with CSE exhibits a high ionic conductivity of 4.23×10−4 and 8.14×10−4 S cm−1 at 25 and 60 °C, respectively, with an excellent stability of up to 4.76 V vs. Li/Li+. The CSE is sandwiched between the Li‐metal and NCM811 for the fabrication of a solid‐state battery (SSB), which delivers a discharge capacity (163 mAh g−1) at a rate of 0.2 C (60 °C). The LiNbO3 (LNO) modification over the NCM811 cell delivers a high discharge capacity of 198 mAh g−1, excellent rate capability, and good cycle life. Furthermore, the LNO coating on the surface of the NCM811 cathode, which effectively improves the contact between the cathode and electrolyte, eventually leads to an increase in the discharge capacity. Therefore, the prepared CSE is a good choice for use in SSB; moreover, the LNO coating noticeably improved the cycling stability, reversibility, and rate capability compared to an unmodified NCM811 cathode in the SSB configuration.
Sustainable Free‐Standing Electrode from Biomass Waste for Sodium‐Ion Batteries
Authors: Sun Ju , Rakov Dmitrii , Wang Jinfeng , Hora Yvonne , Laghaei Milad , Byrne Nolene , Wang Xungai , Howlett Patrick C. , Forsyth Maria 
Published: June 2022

AbstractBattery sustainability is often neglected in favor of higher performance and economic efficiency in battery technology. The standard electrode containing the use of binder and toxic solvent has a detrimental impact on the environment. For the first time, a sustainable and free‐standing carbonized silk battery anode is prepared from woven silk biomass waste. The unique mechanical structural properties and surface functionality make this material not only avoid the use of binder and organic solvent, but with the possibility of achieving high energy density batteries. An outstanding initial Coulombic efficiency of 75.6 % and a remarkable capacity retention of 100 % after 100 cycles are achieved for the electrode carbonized at 1300 °C (CS_1300 °C) when using a non‐volatile and non‐flammable superconcentrated ionic liquid electrolyte. A uniformly NaF‐distributed solid electrolyte interphase (SEI) layer is produced on the CS_1300 °C surface to facilitate Na+ transfer kinetics, and high capacity utilization. Surface functional groups are elucidated by X‐ray photoelectron spectroscopy (XPS), while density functional theory calculations reveal that these groups accelerate fast Na+ ion adsorption on the surface, but hinder Na+ intercalation kinetics due to the strong binding energy from the sodiophilic sites. This scalable and cost‐efficient strategy opens up a new avenue for mass‐production of battery anode materials, and proposes an argument for the role of surface functional groups in SEI formation and electrochemical performance.
PROTOCOL: Hate online and in traditional media: A systematic review of the evidence for associations or impacts on individuals, audiences, and communities
Authors: Hassan Ghayda , Rabah Jihan , Madriaza Pablo , Brouillette‐Alarie Sebastien , Borokhovski Eugene , Pickup David , Varela Wynnpaul , Girard Melina , Durocher‐Corfa Loïc , Danis Emmanuel 
Published: June 2022

AbstractThis is the protocol for a Campbell systematic review: The objectives are as follows: (1) to critically and systematically synthesize the empirical evidence on the effects or impacts of exposure to or consumption, active search, or promotion of hate content online or in traditional media; (2) to describe how the characteristics of hate (e.g., type of content, ideologies, severity, type of platform) impact the documented effects; (3) to collect and identify the role of contextual variables (e.g., individual traits, age, gender, socio‐economic background) on the documented effects; (4) to collect and produce a meaningful classification of outcomes; and (5) to identify gaps and limitations in the research and related policy documents.
Viscosity Limits for Zeroth‐Order Pseudodifferential Operators
Authors: Galkowski Jeffrey , Zworski Maciej 
Published: June 2022

AbstractMotivated by the work of Colin de Verdière and Saint‐Raymond on spectral theory for zeroth‐order pseudodifferential operators on tori, we consider viscosity limits in which zeroth‐order operators, P, are replaced by P + iν Δ, ν > 0. By adapting the Helffer–Sjöstrand theory of scattering resonances, we show that, in a complex neighbourhood of the continuous spectrum, eigenvalues of P + iν Δ have limits as the viscosity ν goes to 0. In the simplified setting of tori, this justifies claims made in the physics literature. © 2021 The Authors. Communications on Pure and Applied Mathematics published by Wiley Periodicals LLC.
Routine flow cytometry approach for the evaluation of solid tumor neoplasms and immune cells in minimally invasive samples
Authors: Quirós‐Caso Covadonga , Arias Fernández Tamara , Fonseca‐Mourelle Ariana , Torres Héctor , Fernández Luis , Moreno‐Rodríguez Maria , Ariza‐Prota Miguel Ángel , López‐González Francisco Julián , Carvajal‐Álvarez Miguel , Alonso‐Álvarez Sara , Moro‐García Marco Antonio , Colado Enrique 
Published: June 2022

AbstractBackgroundMultidimensional flow cytometry (MFC) is routinely used for the diagnosis and follow‐up of hematolymphoid neoplasms but its contribution to the identification of non‐hematolymphoid malignant tumors is limited.MethodsThe presence of non‐hematolymphoid cells in clinical samples obtained via minimally invasive methods was ascertained by using a panel of monoclonal antibodies previously developed in our laboratory comprising a mixture of antibodies: CD9‐PacB/CD45‐OC515/CD57‐FITC/CD56‐PE/CD3‐PerCP‐Cy5.5/CD117‐PE‐Cy7/CD326‐APC/CD81‐APC‐C750. Histopathological studies were performed using standard techniques.Results164 specimens of different origins were included. Malignancy was finally confirmed in 142 (86.5%), while 22 non neoplastic samples were identified. The most frequent diagnosis was small cell lung carcinoma (SCLC) (50%). High sensitivity (S = 98.6%) was reached combining MFC and conventional pathology. Individual markers differed according to the cellular origin of the neoplasm, with neuroendocrine tumors showing a unique immunophenotypic profile (CD56+ CD326+ CD117−/+ and variable tetraspanins expression). Principal component analysis efficiently distinguished SCLC from other tumor samples. In immune cell populations, differences between reactive and malignant biopsies were found in different cell compartments, especially in B cells and Plasma cells. Differences also emerged in the percentage of CD4+ CD8− T cells, CD4‐CD8+ T cells and NK cells and these were dependent on the origin of the tumor cells.ConclusionsThese results support the use of MFC as a rapid and valuable technique to detect non‐hematolymphoid tumoral cells in clinical specimens, providing an initial orientation to complement hystopathological studies and allow a more precise diagnosis, especially in neuroendocrine neoplasms. The impact of different immune cell patterns warrants further research.
Consequence of COVID‐19 occurrences in wastewater with promising recognition and healing technologies: A review
Authors: Manimekalai B. , Arulmozhi R. , Krishnan Mariselvam Ammasi , Sivanesan S. 
Published: June 2022

AbstractPresently, the coronavirus (COVID‐19) epidemic presents a major threat to global communal fitness also socio‐financial development. Ignoring worldwide isolation as well as shutdown attempts, the occurrence of COVID‐19 infected patients continues to be extremely large. Nonetheless, COVID‐19's final course, combined with the prevalence of emerging contaminants (antibiotics, pharmaceuticals, nanoplastics, pesticides, and so forth) in wastewater treatment plants (WWTPs), presents a major problem in wastewater situations. The research, therefore, intends near examine an interdisciplinary as well as technical greet to succor COVID‐19 with subsequent COVID cycles of an epidemic as a framework for wastewater treatment settings. This research investigated the potential for wastewater‐based epidemiology to detect SARS‐CoV‐2 also the enzymes happening in wastewater conditions. In addition, a chance for the incorporation into the WWTPs of emerging and robust technologies such as mesmeric nanobiotechnology, electrochemical oxidation, microscopy, and membrane processes to enhance the overall likelihood of environmental consequences of COVID‐19 also strengthen such quality of water is resolved.