bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome
Authors: Sun Ling , Xie Yu-mei , Wang Shu-shui , Zhang Zhi-wei 
Published: June 2022

Background: Common cardiac abnormalities in Noonan syndrome (NS) include congenital heart diseases (CHD), pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Molecular diagnoses are enabling earlier and more precise diagnosis of patients who have a subtle or atypical presentation. The aims of this study were to investigate genotype-phenotype associations with respect to Noonan syndrome (NS)-associated cardiac abnormalities and catheter or surgery-based interventions conditions.Methods: From January 2019 to December 2021, 22 children with a confirmed molecular diagnosis of NS combined with cardiovascular abnormalities were consecutively enrolled into the current study. A comprehensive review was carried out of echocardiography and electrocardiogram results, second-generation whole-exome sequencing results and catheter or surgery-based interventions conditions.Results: The main manifestations of electrocardiogram abnormalities were QTc prolongation, abnormal Q wave in the precordial lead and limb lead, right ventricular hypertrophy and left or right deviation of the electrical axis. The most commonly detected abnormality was pulmonary valve dysplasia with stenosis, seen in 15 (68.2%) patients, followed by atrial septal defect in 11 (50%) patients. Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants. The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1, SOS1, PTPN11, and SOS2 had common echocardiography features characterized by pulmonary valve stenosis, while RAF1 was characterized by HCM. Interestingly, patients with BRAF mutations were not only characterized by HCM, but also by pulmonary valve stenosis. In the cohort there was only one patient carrying a LZTR1 mutation characterized by left ventricle globose dilation. Ten cases underwent catheter or surgery-based interventions. All the operations had immediate results and high success rates. However, some of the cases had adverse outcomes during extended follow-up. Based on the genotype-phenotype associations observed during follow-up, BRAF and RAF1 genotypes seem to be poor prognostic factors, and multiple interventions may be required for NS patients with severe pulmonary stenosis or myectomy for HCM.Conclusions: The identification of causal genes in NS patients has enabled the evaluation of genotype-cardiac phenotype relationships and prognosis of the disease. This may be beneficial for the development of therapeutic approaches.
A Whole Exon Screening-Based Score Model Predicts Prognosis and Immune Checkpoint Inhibitor Therapy Effects in Low-Grade Glioma
Authors: Luo Cheng , Wang Songmao , Shan Wenjie , Liao Weijie , Zhang Shikuan , Wang Yanzhi , Xin Qilei , Yang Tingpeng , Hu Shaoliang , Xie Weidong , Xu Naihan , Zhang Yaou 
Published: June 2022

ObjectiveThis study aims to identify prognostic factors for low-grade glioma (LGG) via different machine learning methods in the whole genome and to predict patient prognoses based on these factors. We verified the results through in vitro experiments to further screen new potential therapeutic targets.MethodA total of 940 glioma patients from The Cancer Genome Atlas (TCGA) and The Chinese Glioma Genome Atlas (CGGA) were included in this study. Two different feature extraction algorithms – LASSO and Random Forest (RF) – were used to jointly screen genes significantly related to the prognosis of patients. The risk signature was constructed based on these screening genes, and the K-M curve and ROC curve evaluated it. Furthermore, we discussed the differences between the high- and low-risk groups distinguished by the signature in detail, including differential gene expression (DEG), single-nucleotide polymorphism (SNP), copy number variation (CNV), immune infiltration, and immune checkpoint. Finally, we identified the function of a novel molecule, METTL7B, which was highly correlated with PD-L1 expression on tumor cell, as verified by in vitro experiments.ResultsWe constructed an accurate prediction model based on seven genes (AUC at 1, 3, 5 years= 0.91, 0.85, 0.74). Further analysis showed that extracellular matrix remodeling and cytokine and chemokine release were activated in the high-risk group. The proportion of multiple immune cell infiltration was upregulated, especially macrophages, accompanied by the high expression of most immune checkpoints. According to the in vitro experiment, we preliminarily speculate that METTL7B affects the stability of PD-L1 mRNA by participating in the modification of m6A.ConclusionThe seven gene signatures we constructed can predict the prognosis of patients and identify the potential benefits of immune checkpoint inhibitors (ICI) therapy for LGG. More importantly, METTL7B, one of the risk genes, is a crucial molecule that regulates PD-L1 and could be used as a new potential therapeutic target.
Knowledge Mapping of Necroptosis From 2012 to 2021: A Bibliometric Analysis
Authors: Zhang Jie , Song Luxia , Jia Jundi , Tian Wende , Lai Runmin , Zhang Zihao , Li Jingen , Ju Jianqing , Xu Hao 
Published: June 2022

BackgroundNecroptosis, a recently discovered programmed cell death, has been pathologically linked to various diseases and is thus a promising target for treating diseases. However, a comprehensive and objective report on the current status of entire necroptosis research is lacking. Therefore, this study aims to conduct a bibliometric analysis to quantify and identify the status quo and trending issues of necroptosis research in the last decade.MethodsArticles were acquired from the Web of Science Core Collection database. We used two bibliometric tools (CiteSpace and VOSviewer) to quantify and identify the individual impact and cooperation information by analyzing annual publications, journals, co-cited journals, countries/regions, institutions, authors, and co-cited authors. Afterwards, we identified the trending research areas of necroptosis by analyzing the co-occurrence and burst of keywords and co-cited references.ResultsFrom 2012 to 2021, a total of 3,111 research articles on necroptosis were published in 786 academic journals by 19,687 authors in 885 institutions from 82 countries/regions. The majority of publications were from China and the United States, of which the United States maintained the dominant position in necroptosis research; meanwhile, the Chinese Academy of Sciences and Ghent University were the most active institutions. Peter Vandenabeele published the most papers, while Alexei Degterev had the most co-citations.Cell Death &amp; Diseasepublished the most papers on necroptosis, whileCellwas the top 1 co-cited journal, and the major area of these publications was molecular, biology, and immunology. High-frequency keywords mainly included those that are molecularly related (MLKL, TNF-alpha, NF-κB, RIPK3, RIPK1), pathological process related (cell-death, apoptosis, necroptosis, necrosis, inflammation), and disease related (cancer, ischemia/reperfusion injury, infection, carcinoma, Alzheimer’s disease).ConclusionNecroptosis research had a stable stepwise growth in the past decade. Current necroptosis studies focused on its cross-talk with other types of cell death, potential applications in disease treatment, and further mechanisms. Among them, the synergy with ferroptosis, further RIPK1/RIPK3/MLKL studies, its association with inflammation and oxidative stress and translational applications, and the therapeutic potential to treat cancer and neurodegenerative diseases are the trending research area. These might provide ideas for further research in the necroptosis field.
The Relevance of Collision Tests and Quantitative Sensory Testing in Diagnostics and Postoperative Outcome Prediction in Carpal Tunnel Syndrome
Authors: Koszewicz Magdalena , Szydlo Mariusz , Gosk Jerzy , Wieczorek Malgorzata , Slotwinski Krzysztof , Budrewicz Slawomir 
Published: June 2022

BackgroundThe gold standards for the diagnosis and treatment of carpal tunnel syndrome (CTS) and its outcome are undecided. Using clinical and electrophysiological methods, we tried to establish which fibers achieved full postoperative recovery, and the possibility of using non-standard electrophysiological tests as outcome predictors.MethodsThe study group consisted of 35 patients and controls. The Historical–Objective Scale, standard neurography, conduction velocity distribution tests (CVD), and quantitative sensory testing (QST) were performed before and after CTS surgery.ResultsClinical improvement was observed on average in 54.3% of the patients, higher in less advanced CTS. All parameters improved significantly after surgery, except for CVD; most remained worse than in the controls. Only QST parameters fully returned to normal limits. Patient age and CTS severity were important in the estimation of the risk of no improvement.ConclusionsThe efficiency of minimally invasive CTS surgery is higher in younger patients with less advanced CTS. Complete recovery was present only in small fibers; larger fibers could most likely be responsible for residual signs. We did not notice any benefits in CTS diagnosis using methods of small fiber assessment. QST seemed to be useful in the diagnosis of residual signs, and in deciding upon possible reoperation.
Prognostic Value of Serum Albumin Level in Critically Ill Patients: Observational Data From Large Intensive Care Unit Databases
Authors: Jin Xuting , Li Jiamei , Sun Lu , Zhang Jingjing , Gao Ya , Li Ruohan , Ren Jiajia , Hou Yanli , Su Dan , Liu Jiao , Wang Xiaochuang , Chen Dechang , Wang Gang , Wiedermann Christian J. 
Published: June 2022

BackgroundDecreased serum albumin level (SAL) is associated with adverse clinical outcomes. We designed the present study to further assess the prognostic value of SAL in critically ill patients based on data from large intensive care unit (ICU) databases.MethodsThis retrospective cohort study recruited 18,353 patients from the Medical Information Mart for Intensive Care IV (MIMIC-IV) database. Restricted cubic splines (RCS) were performed to visualize the association of SAL at admission with ICU and hospital mortalities. The prognostic value of SAL was analyzed using logistic regression models and receiver operating characteristic (ROC) curves in overall patients and subgroups.ResultsRestricted cubic splines revealed rapid increasing risks in ICU and hospital mortalities when SAL declined to below 30 g/l. Patients with SAL &lt;30 g/l (n = 6,069) had higher ICU (13.7% vs. 6.4%, p &lt; 0.001) and hospital (23.9% vs. 10.7%, p &lt; 0.001) mortalities than those with SAL ≥30 g/l. Multivariable logistic regression model revealed that SAL &lt;30 g/l independently correlated with higher risks of both ICU (odds ratio [OR]: 1.20, 95% confidence interval [CI]: 1.07–1.36) and hospital (OR: 1.51, 95% CI: 1.37–1.66) mortalities. However, the association diminished in patients with cirrhosis (OR: 1.16, 95% CI: 0.91–1.49 for ICU mortality; OR: 1.21, 95% CI: 1.00–1.48 for hospital mortality). ROC curves revealed a poor performance of SAL in predicting mortalities, both in overall patients and in those with cirrhosis.ConclusionsDecreased SAL is associated with increased risk of mortality. However, it possesses low sensitivity and specificity for outcome prediction in critically ill patients, especially in those with cirrhosis.
Development and Validation of the Breast Cancer Scale QLICP-BR V2.0 Based on Classical Test Theory and Generalizability Theory
Authors: Li Fei , Zhou Jiali , Wan Chonghua , Yang Zheng , Liang Qilian , Li Weiqiang , Chen Huanwei 
Published: June 2022

ObjectiveThe aim of this study was to develop and validate the breast cancer scale among the system of quality-of-life instruments for cancer patients (QLICP-BR V2.0).MethodsProgrammed decision procedures and theories on instrument development were applied to develop QLICP-BR V2.0. A total of 246 breast cancer inpatients were investigated using QLICP-BR V2.0 from hospital admission until discharge. The reliability, validity, and responsiveness of the QLICP-BR V2.0 scale were evaluated by using the classical test theory combined with the generalizability theory (GT), including correlation analysis, multi-trait scaling analysis, factor analyses, t-tests, and also multivariate generalizability theory analysis.ResultsThe test–retest reliability of the total scale is 0.79, the Cronbach coefficient is 0.85, and the intra-class correlations coefficient is 0.88. The item–domain correlation analysis showed that the correlation coefficient between items and their own domain is greater than that with other domains except of item GSO4. The exploratory factor analysis showed that three principal components are obtained in the specific module. The outcome of the factor analysis coincides substantially with our theoretical conception. The score difference of each domain of the scale and the total scale before and after treatment is statistically significant (P &lt; 0.05), with the standardized response mean of the total scale being 0.61. According to GT, the generalization coefficient of the scores in the 5 domains is between 0.626 and 0.768, and the reliability index is between 0.557 and 0.695.ConclusionQLICP-BR V2.0 exhibited reasonable degrees of validity, reliability, and responsiveness according to classical test and the generalizability theory. The number of items in the scale is appropriate.
Dacomitinib for Advanced Non-small Cell Lung Cancer Patients Harboring Major Uncommon EGFR Alterations: A Dual-Center, Single-Arm, Ambispective Cohort Study in China
Authors: Li Hong-Shuai , Yang Guang-Jian , Cai Yi , Li Jun-Ling , Xu Hai-Yan , Zhang Tao , Zhou Li-Qiang , Wang Yu-Ying , Wang Jin-Liang , Hu Xing-Sheng , Yan Xiang , Wang Yan 
Published: June 2022

Objective: Dacomitinib has been approved for non-small-cell lung cancer (NSCLC) patients harboring classical epidermal growth factor receptor (EGFR) mutations; however, clinical evidence of its activity on major uncommon EGFR mutations is currently limited.Materials and methods: This was a dual-center, single-arm, ambispective cohort study in China. Patients with histologically confirmed metastatic or recurrent NSCLC harboring major uncommon EGFR mutations were eligible for the study. The objective response rate and disease control rate were determined by RECIST 1.1 every 1–2 months. Adverse events were assessed by CTCAE 5.0.Results: In total, 32 NSCLC patients were enrolled between July 2020 and January 2022, and 18 (56.3%) patients received dacomitinib as first-line therapy. Median age was 64 years, and 20 (62.5%) were female. The mutations identified were G719X (n = 24; 75%), followed by L861X (n = 10; 31.3%), and S768I (n = 8; 25%). In the first-line setting, 72.2% of patients (13/18) had a confirmed partial response and 100% (18/18) had disease control, and the median progression-free survival (PFS) and overall survival (OS) were unreached. In the whole cohort, 56.3% of patients (18/32) had a confirmed partial response and 90.6% (29/32) had disease control, and the median PFS was 10.3 months (95% confidence interval, 6.1–14.5) and the median OS was 36.5 months. Except for one case not available for brain re-evaluation, control of the intracranial metastases was observed in 13 patients (13/14, 92.9%). No grade 4–5 adverse events (AEs) occurred, but all patients had grade 1–2 AEs, and 12.5% (4/32) patients required a dosage reduction due to intolerable AEs.Conclusions: Dacomitinib demonstrated favorable activity with manageable toxicity in patients with NSCLC harboring major uncommon EGFR mutations.
Nematic Fluctuations in the Non-Superconducting Iron Pnictide BaFe1.9−xNi0.1CrxAs2
Authors: Gong Dongliang , Yi Ming , Wang Meng , Xie Tao , Zhang Wenliang , Danilkin Sergey , Deng Guochu , Liu Xinzhi , Park Jitae T. , Ikeuchi Kazuhiko , Kamazawa Kazuya , Mo Sung-Kwan , Hashimoto Makoto , Lu Donghui , Zhang Rui , Dai Pengcheng , Birgeneau Robert J. , Li Shiliang , Luo Huiqian 
Published: June 2022

The main driven force of the electronic nematic phase in iron-based superconductors is still under debate. Here, we report a comprehensive study on the nematic fluctuations in a non-superconducting iron pnictide system BaFe1.9−xNi0.1CrxAs2 by electronic transport, angle-resolved photoemission spectroscopy (ARPES), and inelastic neutron scattering (INS) measurements. Previous neutron diffraction and transport measurements suggested that the collinear antiferromagnetism persists to x = 0.8, with similar Néel temperature TN and structural transition temperature Ts around 32 K, but the charge carriers change from electron type to hole type around x = 0.5. In this study, we have found that the in-plane resistivity anisotropy also highly depends on the Cr dopings and the type of charge carriers. While ARPES measurements suggest possibly weak orbital anisotropy onset near Ts for both x = 0.05 and x = 0.5 compounds, INS experiments reveal clearly different onset temperatures of low-energy spin excitation anisotropy, which is likely related to the energy scale of spin nematicity. These results suggest that the interplay between the local spins on Fe atoms and the itinerant electrons on Fermi surfaces is crucial to the nematic fluctuations of iron pnictides, where the orbital degree of freedom may behave differently from the spin degree of freedom, and the transport properties are intimately related to the spin dynamics.
MEMS Modulator-Based Mid-Infrared Laser Heterodyne Radiometer for Atmospheric Remote Sensing
Authors: Xue Zhengyue , Shen Fengjiao , Li Jun , Liu Xiaohai , Wang Guishi , Liu Kun , Gao Xiaoming , Chen Weidong , Tan Tu 
Published: June 2022

The performance of a mid-infrared laser heterodyne radiometer (MIR-LHR) based on a micro-electro-mechanical system (MEMS) mirror is demonstrated in ground-based solar occultation mode. A MEMS mirror is employed as an alternative modulator to the traditional mechanical chopper. High-resolution (∼0.0024 cm−1) transmission spectrum near 3.93 μm was obtained for atmospheric observation of N2O absorption. Operation of the MIR-LHR with laser-induced shot-noise limited performance was analyzed and experimentally achieved. The laser heterodyne spectrum obtained is consistent with Fourier-transform infrared (FT-IR) spectrometer and atmospheric transmission modeling. Compared to the traditional chopper, the MEMS mirror is smaller, lighter and lower power consumption which makes the system more stable and compact. The reported MIR-LHR in this article has great potential in aircraft instruments and satellite payloads.
“I Want to Be Stepping in More” - Professional Online Forum Moderators' Experiences of Supporting Individuals in a Suicide Crisis
Authors: Perry Amanda , Lamont-Mills Andrea , Preez Jan du , Plessis Carol du 
Published: June 2022

IntroductionIndividuals experiencing suicidal crises increasingly turn to online mental health forums for support. Support can come from peers but also from online moderators, many of whom are trained health professionals. Much is known about users' forum experiences; however, the experiences of professional moderators who work to keep users safe has been overlooked. The beneficial nature of online forums cannot be fully realized until there is a clearer understanding of both parties' participation. This study explored the experiences of professional online forum moderators engaged in suicide prevention.Materials and MethodsA purposive sample of professionally qualified moderators was recruited from three online mental health organizations. In-depth semi-structured, video-recorded interviews were conducted with 15 moderators (3 male, 12 female), to explore their experiences and perceptions of working in online suicide prevention spaces. Data was analyzed using inductive thematic analysis.ResultsFive themes were identified related to the experiences and challenges for moderators. These were the sense of the unknown, the scope of the role, limitations of the written word, volume of tasks, and balancing individual vs. community needs.DiscussionFindings indicate that the professionally qualified moderator role is complex and multifaceted, with organizations failing to recognize these aspects. Organizations restrict moderators from using their full therapeutic skill set, limiting them to only identifying and re-directing at-risk users to crisis services. The benefits of moderated online forums could be enhanced by allowing moderators to use more of their skills. To facilitate this, in-situ research is needed that examines how moderators use their skills to identify at-risk users.
Development of Double C-Shaped Left-Handed Metamaterial for Dual-Band Wi-Fi and Satellite Communication Application with High Effective Medium Radio and Wide Bandwidth
Authors: Sifat Rasheduzzaman , Faruque Mohammad Rashed Iqbal , Hossain Md Bellal , Abdullah Mardina , Islam Mohammad Tariqul , Khandaker Mayeen Uddin , Tamam Nissren , Sulieman Abdelmoneim 
Published: June 2022

The development and improvement of the dual-band 802.11ac standard Wi-Fi and wide bandwidth satellite communication devices are currently research subjects that have garnered significant interest. In this paper, double C-shaped two split-ring resonator (SRR) bounded unit cells were developed, which are applicable for S, C, and X band applications, including dual-band Wi-Fi communication devices and satellite communication applications for its effective medium ratio (EMR) of 15.6, which results in a 2.4 GHz resonance frequency and wide bandwidth (S21 < −10 dB) of 1650 MHz at an 11.5 GHz resonance frequency. A copper resonator and the popular substrate material Rogers RT 5880 (thickness of 1.575 mm) were adopted for analyzing the characteristics of this unit cell. The 8×8 mm2 structure was designed and simulated using a commercially available electromagnetic simulator CST (Computer Simulation Technology) Studio Suite 2019, which was utilized at four resonance frequencies: 2.4 GHz, 5.6 GHz, 8.93 GHz, and 11.5 GHz. The electric field, magnetic field, and surface current distribution were examined by modifying the metamaterial unit cell design structure, showing effective results. To confirm the CST simulation results, the newly designed double C-shaped double-negative metamaterial (DNG) was also simulated with the Ansys High-Frequency Structure Simulator (HFSS) and compared with the extracted results. The suggested metamaterial is advised for usage in Wi-Fi and satellite communication applications for superior long-distance communication performance and efficiency with the compactness of the structure.