bluuebunny/crossref_metadata_2025_split huggingface dataset:
De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
Authors: Yang Haipo , Gong Pan , Jiao Xianru , Niu Yue , Zhou Qiujun , Zhang Yuehua , Yang Zhixian 
Published: November 2021

Objective: The DYNC1H1 gene is related to a variety of diseases, including spinal muscular atrophy with lower extremity–predominant 1, Charcot–Marie–Tooth disease type 2O, and mental retardation, autosomal dominant13 (MRD13). Some patients with DYNC1H1 variant also had epilepsy. This study aimed to detect DYNC1H1 variants in Chinese patients with infantile spasms (ISs).Methods: We reviewed clinical information, video electroencephalogram (V-EEG), and neuroimaging of a newly identified cohort of five patients with de novo DYNC1H1gene variants.Results: Five patients with four DYNC1H1variants from four families were included. All patients had epileptic spasms (ESs), the median age at seizure onset was 7.5 months (range from 5 months to 2 years 7 months), and the interictal V-EEG results were hypsarrhythmia. Four of five patients had brain magnetic resonance imaging (MRI) abnormalities. Four de novo DYNC1H1 variants were identified, including two novel variants (p.N1117K, p.M3405L) and two reported variants (p.R1962C, p.F1093S). As for the variant site, two variants are located in the tail domain, one variant is located in the motor domain, and one variant is located in the stalk domain. All patients had tried more than five kinds of antiepileptic drugs. One patient has been controlled well by vigabatrin (VGB) for 4 years, and another patient by VGB and steroids for 1.5 years. The other three patients still had frequent ESs. All patients had severe intellectual disability and development delays.Significance: IS was one of the phenotypes of DYNC1H1 variants. Most patients had non-specific brain MRI abnormality. Two of four DYNC1H1 variants were novel, expanding the variant spectrum. The IS phenotype was related to the variant's domains of DYNC1H1 variant sites. All patients were drug-refractory and showed development delays.
OXCT1 Enhances Gemcitabine Resistance Through NF-κB Pathway in Pancreatic Ductal Adenocarcinoma
Authors: Ding Jinsheng , Li Hui , Liu Yang , Xie Yongjie , Yu Jie , Sun Huizhi , Xiao Di , Zhou Yizhang , Bao Li , Wang Hongwei , Gao Chuntao 
Published: November 2021

BackgroundPancreatic ductal adenocarcinoma (PDAC) is a type of malignant tumor with a five-year survival rate of less than 10%. Gemcitabine (GEM) is the most commonly used drug for PDAC chemotherapy. However, a vast majority of patients with PDAC develop resistance after GEM treatment.MethodsWe screened for GEM resistance genes through bioinformatics analysis. We used immunohistochemistry to analyze 3-oxoacid CoA-transferase 1 (OXCT1) expression in PDAC tissues. The survival data were analyzed using the Kaplan–Meier curve. The expression levels of the genes related to OXCT1 and the NF-κB signaling pathway were quantified using real−time quantitative PCR and western blot analyses. We performed flow cytometry to detect the apoptosis rate. Colony formation assay was performed to measure the cell proliferation levels. The cytotoxicity assays of cells were conducted using RTCA. The downstream pathway of OXCT1 was identified via the Gene Set Enrichment Analysis. Tumor growth response to GEM in vivo was also determined in mouse models.ResultsBioinformatics analysis revealed that OXCT1 is the key gene leading to GEM resistance. Patients with high OXCT1 expression exhibited short relapse-free survival under GEM treatment. OXCT1 overexpression in PDAC cell lines exerted inhibitory effect on apoptosis after GEM treatment. However, the down-regulation of OXCT1 showed the opposite effect. Blocking the NF-κB signaling pathway also reduced GEM resistance of PDAC cells. Tumor growth inhibition induced by GEM in vivo reduced after OXCT1 overexpression. Moreover, the effect of OXCT1 on GEM refractoriness in PDAC cell lines was reversed through using an NF-κB inhibitor.ConclusionOXCT1 promoted GEM resistance in PDAC via the NF-κB signaling pathway both in vivo and in vitro. Our results suggest that OXCT1 could be used as a potential therapeutic target for patients with PDAC.
Database-Guided Analysis for Immunophenotypic Diagnosis and Follow-Up of Acute Myeloid Leukemia With Recurrent Genetic Abnormalities
Authors: Aanei Carmen-Mariana , Veyrat-Masson Richard , Selicean Cristina , Marian Mirela , Rigollet Lauren , Trifa Adrian Pavel , Tomuleasa Ciprian , Serban Adrian , Cherry Mohamad , Flandrin-Gresta Pascale , Tardy Emmanuelle Tavernier , Guyotat Denis , Campos Catafal Lydia 
Published: November 2021

Acute myeloid leukemias (AMLs) are hematologic malignancies with varied molecular and immunophenotypic profiles, making them difficult to diagnose and classify. High-dimensional analysis algorithms might increase the utility of multicolor flow cytometry for AML diagnosis and follow-up. The objective of the present study was to assess whether a Compass database-guided analysis can be used to achieve rapid and accurate diagnoses. We conducted this study to determine whether this method could be employed to pilote the genetic and molecular tests and to objectively identify different-from-normal (DfN) patterns to improve measurable residual disease follow-up in AML. Three Compass databases were built using Infinicyt 2.0 software, including normal myeloid-committed hematopoietic precursors (n = 20) and AML blasts harboring the most frequent recurrent genetic abnormalities (n = 50). The diagnostic accuracy of the Compass database-guided analysis was evaluated in a prospective validation study (125 suspected AML patients). This method excluded AML associated with the following genetic abnormalities: t(8;21), t(15;17), inv(16), and KMT2A translocation, with 92% sensitivity [95% confidence interval (CI): 78.6%–98.3%] and a 98.5% negative predictive value (95% CI: 90.6%–99.8%). Our data showed that the Compass database-guided analysis could identify phenotypic differences between AML groups, representing a useful tool for the identification of DfN patterns.
Comprehensive Analysis of the Expression and Prognosis for MMPs in Human Colorectal Cancer
Authors: Yu Jing , He Zhen , He Xiaowen , Luo Zhanhao , Lian Lei , Wu Baixing , Lan Ping , Chen Haitao 
Published: November 2021

BackgroundPrevious study implicated that genes of matrix metalloproteinase (MMP) family play an important role in tumor invasion, neoangiogenesis, and metastasis. However, the diverse expression patterns and prognostic values of 24 MMPs in colorectal cancer are yet to be analyzed.MethodsIn this study, by integrating public database and our data, we first investigated the expression levels and protein levels of MMPs in patients with colorectal cancer. Then, by using TCGA and GEO datasets, we evaluated the association of MMPs with clinicopathological parameters and prognosis of colorectal cancer. Finally, by using the cBioPortal online tool, we analyzed the alterations of MMPs and did the network and pathway analyses for MMPs and their nearby genes.ResultsWe found that, MMP1, MMP3, MMP7, MMP9–MMP12, and MMP14 were consistently upregulated in public dataset and our samples. Whereas, MMP28 was consistently downregulated in public dataset and our samples. In the clinicopathological analyses, upregulated MMP11, MMP14, MMP16, MMP17, MMP19, and MMP23B were significantly associated with a higher tumor stage. In the survival analyses, upregulated MMP11, MMP14, MMP17, and MMP19 were significantly associated with a shorter progression-free survival (PFS) time and a shorter relapse-free (RFS) time.DiscussionThis study implied that MMP11, MMP14, MMP17, and MMP19 are potential targets of precision therapy for patients with colorectal cancer.
Evaluation of Caspase-1, Interleukin-1β, and Interleukin-18, in the Middle Ear Effusion in Children With Otitis Media With Effusion
Authors: Liu Shanshan , Guo Lining , Chen Min , Liu Wei , Li Yanhong , Wang Xiaoxu , Li Shilan , Zhang Jie , Ni Xin 
Published: November 2021

Objectives: The present study aimed to assess the expression of caspase-1 and caspase-1-dependent processing of cytokines, such as interleukin (IL)-1β and IL-18, in the middle ear effusion of children with otitis media with effusion (OME) in order to identify the potential role of inflammasomes in OME.Methods: This study included 29 children scheduled for myringotomy with the insertion of tympanostomy tubes due to OME. Middle ear effusion (MEE) was collected during the surgery. Caspase-1, IL-1β, and IL-18 were assayed using enzyme-linked immunosorbent assay kits. The levels were compared between those with mucoid and serous MEE and those with and without a history of ventilation tube insertion.Results: Caspase-1, IL-1β, and IL-18 were detected in all samples. The caspase-1, IL-1β, and IL-18 levels did not significantly differ between mucoid samples and serous samples. No statistical significances were discovered in caspase-1, IL-1β, and IL-18 levels between with and without a history of ventilation tube groups. There was a significant negative correlation between IL-1β and IL-18 and the duration of OME (p &lt; 0.05). However, no significant correlation was found between caspase-1 and disease duration.Conclusions: Inflammasomes may participate in the inflammatory process of OME. IL-1β and IL-18 levels in the MEE decreased over time.
Aberrant Development of Enteric Glial Cells in the Colon of Hirschsprung's Disease
Authors: Zhou Tingting , Liu Wei , Yu Xiaofang , Cao Zengcai , Mu Weijing , Hou Peimin , Ren Chuantao , Li Aiwu 
Published: November 2021

Objective: The aim of this study was to explore the development of enteric glial cells (EGCs) in different segments of Hirschsprung's disease (HSCR).Methods: Colonic specimens from 35 children with HSCR were selected to analyze the relative expression of glial fibrillary acidic protein and S100 calcium-binding protein B using Western blotting and real-time fluorescence quantitative PCR. Immunofluorescence and immunohistochemical staining were performed to determine the distribution of myenteric EGCs and neuronal cells in different segments of HSCR.Results: There was a trend of diminished protein and mRNA expression of glial fibrillary acidic protein and S100 calcium-binding protein B from the proximal, dilated, and transitional segments to the aganglionic segment (p &lt; 0.05). Immunofluorescence and immunohistochemistry showed that the EGCs in the aganglionic, transitional, and dilated colonic muscles were morphologically abnormal, which was consistent with the dysplasia of myenteric neurons.Conclusion: Aberrant development of myenteric EGCs was observed in the colon of HSCR, which may affect the survival of enteric neurons.
Screening for Coronavirus Disease 2019 (COVID-19) at the Pediatric Emergency Department During Different Pandemic Phases
Authors: Stacevičienė Indrė , Burokienė Sigita , Steponavičienė Aušra , Vaičiūnienė Daiva , Puronaitė Roma , Jankauskienė Augustina 
Published: November 2021

The wide spectrum of COVID-19 symptoms complicates the selection of target groups for screening. We aimed to compare data of children screened for COVID-19 at the pediatric emergency department in Vilnius between different phases throughout 1 year (Phase I: March–May, 2020; Phase II: June–September, 2020; and Phase III: October, 2020–February, 2021) and to evaluate the possible predictors of the disease. SARS-CoV-2 PCR tests were positive for 2.7% of tested children (248/9,238), significantly higher during the Phase III (5.5%) compared with the Phase I (0.6%,p= 0.000) and Phase II (0.3%,p= 0.000). Infants and teenagers (12–17 years) accounted for a larger proportion of COVID-19 patients (24.6 and 26.2%, respectively) compared to other age groups: 1–2 years (18.9%), 3–6 years (14.9%), and 7–11 years (15.3%). There were more COVID-19 cases among children with a known SARS-CoV-2 exposure compared to those who did not declare any contact (18.2 vs. 1.1%,p= 0000). When symptoms were adjusted for age, gender and known exposure to SARS-CoV-2, we found that fever (OR 2.66; 95% CI 1.89–3.81), pharyngitis (OR 1.35; 95% CI 1.01–1.80), headache (OR 1.81; 95% CI 1.09–2.90), and anosmia/ageusia (OR 6.47; 95% CI 1.61–22.47) were the most significant predictors.Conclusion:Although high numbers of testing were maintained throughout the year, the positive test results were significantly higher during the Phase III. Age (&lt;1 year, 12–17 years), a history of exposure to SARS-CoV-2 and some symptoms, such as fever, pharyngitis, headache and anosmia/ageusia could aid in targeting groups for screening for COVID-19 in children.
The Role of SGLT2 Inhibitors in Atherosclerosis: A Narrative Mini-Review
Authors: Pahud de Mortanges Aurélie , Salvador Jr. Dante , Laimer Markus , Muka Taulant , Wilhelm Matthias , Bano Arjola 
Published: November 2021

Objective:Sodium glucose cotransporter 2 inhibitors (SGLT2-is) are antidiabetic drugs that improve glycemic control by limiting urinary glucose reuptake in the proximal tubule. SGLT2-is might suppress atherosclerotic processes and ameliorate the prognosis of patients with diabetes mellitus diagnosed with or at high risk of atherosclerotic cardiovascular disease (ASCVD). In this mini review, we examine the role of SGLT2-is in the development and progression of atherosclerosis throughout its spectrum, from subclinical atherosclerosis to ASCVD.Data Sources—PubMed and Google Scholar were searched for publications related to SGLT2-is and atherosclerosis. All types of articles were considered, including clinical trials, animal studies,in vitroobservations, and reviews and meta-analyses. Data were examined according to their impact and clinical relevance.Synopsis of Content—We first review the underlying mechanisms of SGLT2-is on the development and progression of atherosclerosis, including favorable effects on lipid metabolism, reduction of systemic inflammation, and improvement of endothelial function. We then discuss the putative impact of SGLT2-is on the formation, composition, and stability of atherosclerotic plaque. Furthermore, we evaluate the effects of SGLT2-is in subclinical atherosclerosis assessed by carotid intima media thickness and pulse wave velocity. Subsequently, we summarize the effects of SGLT2-is in ASCVD events, including ischemic stroke, angina pectoris, myocardial infarction, revascularization, and peripheral artery disease, as well as major adverse cardiovascular events, cardiovascular mortality, heart failure, and chronic kidney disease. Moreover, we examine factors that could modify the role of SGLT2-is in atherosclerosis, including sex, age, diabetes, glycemic control, ASCVD, and SGLT2-i compounds. Additionally, we propose future directions that can improve our understanding of SGLT2-is and atherosclerosis.
Religiosity and Sexual Initiation Among Hispanic Adolescents: The Role of Sexual Attitudes
Authors: Calatrava Maria , Beltramo Carlos , Osorio Alfonso , Rodríguez-González Martiño , De Irala Jokin , Lopez-del Burgo Cristina 
Published: November 2021

Introduction: Religiosity and sexuality present numerous interconnections. Little is known regarding the specific causal pathways between each religiosity dimension and sexual behavior. The objectives of this study were (1) to explore the relationship between religiosity (measured through attendance at religious services, salience, and prayer) and sexual initiation in adolescents and (2) to establish the role of sexual permissiveness as mediator of the impact produced by religiosity in sexual initiation.Methods: This study analyzes data from an ongoing school-based international study examining what young people feel and think about relationships, love, and sexuality. An anonymous, self-administered online questionnaire was developed in Spanish. A total of 4,366 students, aged 14–18, completed the questionnaire. A final sample of 2,919 questionnaires was analyzed. Two unconditional logistic regression models were fit with religiosity variables and possible confounders as independent variables (with and without permissiveness, respectively). The dependent variable was sexual initiation. A final path analysis was performed to further understand the results.Results: Our study highlights that, in predominantly Catholic and Spanish-speaking countries, the fact of attending church and praying may greatly contribute to postponing sexual relations during adolescence, even independently of their attitudes on sexual permissiveness. Conversely, the effect of salience on sexual initiation seems to be fostered only through the mediation of sexual permissiveness. Our findings point to an indirect effect of the three religiosity dimensions (and in particular, religious salience) through permissive attitudes.Conclusion: Religiosity could be a relevant factor to explain sexual initiation during adolescence.
Novel attributes of a dual pocket tunnel field-effect transistor
Authors: Gupta Abhinav , Saurabh Sneh 
Published: November 2021

Abstract
In this paper, we propose the application of a dual pocket adjacent to the source in a tunnel field effect transistor (TFET) to improve its electrical characteristics. Using two-dimensional device simulations, we demonstrate that if appropriate doping concentration and length are chosen for the dual pocket, then a sharp curvature is obtained in the energy bands at the onset of tunneling. Consequently, a smaller tunneling width and higher band-to-band tunneling are obtained in a dual pocket TFET (DP-TFET). We demonstrate that the proposed DP-TFET exhibits a 64% smaller average subthreshold swing (SS) compared to a conventional TFET and a 39% smaller average SS compared to a TFET in which a single fully depleted counter-doped pocket adjacent to the source is added. Moreover, the proposed technique of inserting a dual pocket is effective at lower supply voltage (V

DD
= 0.5 V). Therefore, we can obtain a high ON-current to OFF-current ratio at lower supply voltages and the proposed technique can be employed in future TFETs for low power applications.
Capacitor-type thin-film heat flow switching device
Authors: Hirata Keisuke , Matsunaga Takuya , Singh Saurabh , Matsunami Masaharu , Takeuchi Tsunehiro 
Published: November 2021

AbstractWe developed a capacitor-type heat flow switching device, in which electron thermal conductivity of the electrodes is actively controlled through the carrier concentration varied by an applied bias voltage. The device consisted of an amorphous p-type Si–Ge–Au alloy layer, an amorphous SiO2as the dielectric layer, and an n-type Si substrate. Both amorphous materials are characterized by very low lattice thermal conductivity, ≤1 W m–1K–1. The Si–Ge–Au amorphous layer with 40 nm in thickness was deposited by means of molecular beam deposition technique on the 100 nm thick SiO2layer formed at the top surface of Si substrate. Bias voltage-dependent heat flow density through the fabricated device was evaluated by a time-domain thermoreflectance method at room temperature. Consequently, we observed a 55% increase in the heat flow density at the maximum.
Continuous Fermi level tuning of Nb-doped WSe2 under an external electric field
Authors: Hisama Kaoru , Gao Yanlin , Maruyama Mina , Kitaura Ryo , Okada Susumu 
Published: November 2021

Abstract
The possibility of continuous Fermi level tuning of Nb-doped WSe2 under an external electric field is investigated, using the density functional theory combined with the effective screening medium method. The Fermi level monotonically increases and decreases as the carrier concentration increases and decreases, respectively, by controlling the external electric field. The electronic structure of Nb-doped WSe2 is insensitive to the Nb concentration and arrangement. Furthermore, it was demonstrated that the electric field simply shifts the Fermi level of Nb-doped WSe2, resulting in the constant quantum capacitance through the gate voltage, irrespective of the Nb concentration and arrangement.
Strategi Dakwah Jamaah Tabligh dalam Tazkiyat Al-Nafs di Masjid PP. Darul Ulum Pakes Desa Panaan Palengaan Pamekasan
Authors: Ruji Moh , Faisol Abdul Hadi 
Published: November 2021

Strategi dalam penjelankan sebuah dakwah adalah sebuah cara yang dilakukan agar dakwah yang disampaikan dapat diterima oleh masyarakat. Strrategi dakwah Jamaah Tabligh dalam hal Tazkiyat Al-nafs yaitu melalui kegiatan atau tindak lanjut dari setiap yang telah direncanakan sebelumnya selama masa tiga hari program berjalan.Metode yang digunakan penulis adalah metode Deskriptif kualitatif, yaitu dengan cara melalui pengamatan lapangan, wawancara, dan dokumentasi dari Jamaah Tabligh. Tujuan dari penelitian ini untuk mengetahui stragegi dakwah yang dilakukan oleh Jama’ Tabligh, faktor pendukung dan penghambat serta solusinya. Hasil penelitian. Pertama berisi tentang penyampaian terima kasih dan permohonan maaf dengan mesyarakat atas kesalahan selama beriktikaf di masjid, dan mengajak masyarakat untuk bergabung aktif dalam program khuruj (tasykil) demi tercapainya jiwa yang bersih (Tazkiyat Al- nafs). Bagi kaum perempuan para Da’I mendatangi rumahnya dan membacakan Taklim. Meberi bantuian bagi yang tidak mampu dalam bidang ekonomi bagi yang ingin hendak melakukan Khuruj dan membantu sebagian pekerjaan rumahnya selama ia Khuruj. Di sinalah salah satu kunci strategi yang dapat memikat para hati mad’u untuk dapat diajak bergabung dalam kegiatan dakwah Jamaah Tabligh sehingga dapat mengamalkan dan bisa menyampaiakan kepada orang lain. Bagi Masyarakat yang berkeinginan Khuruj (keluar) namun sibuk, maka tugas tersebut di tanggung sebagian anggota Jamaah Tabligh yang kebetulan tidak melaksanakan Khuruj.