bluuebunny/crossref_metadata_2025_split huggingface dataset:
Listening Through Language: Jean-Luc Nancy and Pierre Schaeffer
Authors: Reyner Igor R. 
Published: May 2021

This article addresses the role of auditory-related verbs in the work of Jean-Luc Nancy and Pierre Schaeffer in order to shed light on a broader tendency in French thought. Through a comparative reading of the ways in which Nancy, in Listening, and Schaeffer, in Treatise on Musical Objects, mobilize verbs such as écouter and entendre, I connect the issue of language to debates about descriptive and prescriptive approaches towards listening. Drawing on the Dictionary of Untranslatables, I argue that Nancy's and Schaeffer's engagements with listening can be mapped onto historical modes of framing politics and ethics, which are also characterized by descriptive and prescriptive approaches. By showing how theories of listening connect to political and ethical debates, this study discusses the ideological instrumentalization of listening as opposed to more descriptive and exploratory forms of engagement in the auditory and the faculty of the ear.
The Logician of Madness: Fanon's Lacan
Authors: Richards Sinan 
Published: May 2021

In recent years, commentators have begun to re-examine the proximity of Frantz Fanon's and Jacques Lacan's work — a proximity which has traditionally been underappreciated. This article adds to these voices, demonstrating the reciprocal intellectual relationship between these two figures. It develops five interrelated arguments to chart this proximity. First, it emphasizes Lacan's and Fanon's connections through their ontological perspectives on madness. Second, it arbitrates the two theorists’ criticisms of the limits of Western psychoanalysis. Third, it shows the importance placed by both on social structures in determining mental illnesses. Next, it demonstrates the centrality of their common understanding of psychosis. Finally, it argues that Lacan's argument in The Sinthome concerning the colonizer's power is inherited from Fanon's Black Skin, White Masks — itself influenced by Lacan's early theory of language. The article does not attempt to cast Fanon as an apprentice Lacanian but rather to argue that reciprocity helped shape both oeuvres.
TGFβ1 in Cancer-Associated Fibroblasts Is Associated With Progression and Radiosensitivity in Small-Cell Lung Cancer
Authors: Zhang Jiaqi , Qi Jing , Wei Hui , Lei Yuanyuan , Yu Hao , Liu Ningbo , Zhao Lujun , Wang Ping 
Published: May 2021

ObjectiveSmall-cell lung cancer (SCLC) is aggressive, with early metastasis. Cytokines secreted by cancer-associated fibroblasts (CAFs) within various tumors influences these features, but the function in particular of TGFβ1 (transforming growth factor beta 1) is controversial and unknown in SCLC. This study explored the influence of TGFβ1 in CAFs on the development, immune microenvironment, and radiotherapy sensitivity of SCLC.MethodsSCLC specimens were collected from 90 patients who had received no treatment before surgery. Tumor and tumor stroma were subjected to multiplex immunohistochemistry to quantitate TGFβ1 and other immune factors in CAFs. Cell proliferation and flow cytometry apoptosis assays were used to investigate associations between TGFβ1 and proliferation and radiotherapy sensitivity. The immune factors in tumors were detected by immunohistochemistry in vitro and in vivo (mice).ResultsTGFβ1 levels on CAFs lower or higher than the median were found, respectively, in 52.2 and 47.8% of patients; overall survival of patients with TGFβ1-high levels (53.9 mo) was significantly longer than that of the TGFβ1-low group (26.9 mo; P = 0.037). The univariate and multivariate analyses indicated that a TGFβ1-high level was an independent predictor of increased survival time. TGFβ1-high levels in CAFs were associated with inhibition of growth, proliferation, antitumor immunity, and enhanced radiotherapeutic sensitivity and tumor immunity of tumor. TGFβ1-low levels promoted tumor cell growth and radiotherapy sensitivity in vivo and in vitro.ConclusionHigh levels of TGFβ1 in CAFs were associated with longer overall survival in patients with SCLC and enhanced radiotherapy sensitivity.
Plasma Metabolomics of Acute Coronary Syndrome Patients Based on Untargeted Liquid Chromatography–Mass Spectrometry
Authors: Zhong Wei , Deng Qiaoting , Deng Xunwei , Zhong Zhixiong , Hou Jingyuan 
Published: May 2021

Background: Acute coronary syndrome (ACS) is the main cause of death and morbidity worldwide. The present study aims to investigate the altered metabolites in plasma from patients with ACS and sought to identify metabolic biomarkers for ACS.Methods: The plasma metabolomics profiles of 284 ACS patients and 130 controls were carried out based on an untargeted liquid chromatography coupled with tandem mass spectrometry (LC-MS) approach. Multivariate statistical methods, pathway enrichment analysis, and univariate receiver operating characteristic (ROC) curve analysis were performed.Results: A total of 328 and 194 features were determined in positive and negative electrospray ionization mode in the LC-MS analysis, respectively. Twenty-eight metabolites were found to be differentially expressed, in ACS patients relative to controls (p &lt; 0.05). Pathway analysis revealed that these metabolites are mainly involved in synthesis and degradation of ketone bodies, phenylalanine metabolism, and arginine and proline metabolism. Furthermore, a diagnostic model was constructed based on the metabolites identified and the areas under the curve (AUC) for 5-oxo-D-proline, creatinine, phosphatidylethanolamine lyso 16:0, and LPC (20:4) range from 0.764 to 0.844. The higher AUC value of 0.905 was obtained for the combined detection of phosphatidylethanolamine lyso 16:0 and LPC (20:4).Conclusions: Differential metabolic profiles may be useful for the effective diagnosis of ACS and may provide additional insight into the molecular mechanisms underlying ACS.
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction
Authors: Leone Maria Pia , Palumbo Pietro , Saenen Johan , Mastroianno Sandra , Castellana Stefano , Amico Cesare , Mazza Tommaso , Potenza Domenico Rosario , Petracca Antonio , Castori Marco , Carella Massimo , Di Stolfo Giuseppe 
Published: May 2021

Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2,000 and 1:5,000 and is characterized by the fibrofatty replacement of cardiomyocytes that predisposes to malignant arrhythmias, heart failure, and sudden cardiac death. The diagnosis is based on the 2010 Task Force Criteria including family history, electrocardiographic traits and arrhythmogenic pattern, specific gene mutations, and structural and/or histological abnormalities. Most ACMs display an autosomal dominant mode of inheritance often with incomplete penetrance and variable expressivity. Genetic screening of patients with ACM identifies pathogenic or likely pathogenic variants, prevalently in genes encoding the cardiac desmosome (PKP2, DSP, DSC2, DSG2, and JUP) or less frequently in non-desmosomal genes (CTNNA3, PLN, TMEM43, RYR2, SCN5A, CDH2, and DES).Methods: In the present study, we performed molecular autopsy in a boy who died suddenly during physical exertion. In addition to post-mortem examination, a DNA sample was analyzed with next-generation sequencing (NGS).Results: The genetic analysis revealed the presence of pathogenic heterozygous c.314del (p.Pro105Leufs*7) frameshift variant in the PKP2 gene. Cascade screening of family members allowed us to identify 12 mutation carriers and to intervene on subjects at risk, many of whom were athletes.Conclusions: Molecular autopsy can establish cardiogenetic diagnosis and allow appropriate preventative measures in high-risk relatives.
Intra-Discrete Typing Unit TcV Genetic Variability of Trypanosoma cruzi in Chronic Chagas' Disease Bolivian Immigrant Patients in Barcelona, Spain
Authors: Oliveira Maykon Tavares de , Sulleiro Elena , Silva Maria Cláudia da , Silgado Aroa , de Lana Marta , da Silva João Santana , Molina Israel , Marin-Neto J. Antônio 
Published: May 2021

Background:Trypanosoma cruzi has a high rate of biological and genetic variability, and its population structure is divided into seven distinct genetic groups (TcI-TcVI and Tcbat). Due to immigration, Chagas disease (ChD), caused by T. cruzi, has become a serious global health problem including in Europe. Therefore, the aim of this study was to evaluate the existence of genetic variability within discrete typing unit (DTU) TcV of T. cruzi in Bolivian patients with chronic ChD residing in Barcelona, Spain.Methods: The DNA was extracted from the peripheral blood of 27 patients infected with T. cruzi DTU TcV and the fragments of the genetic material were amplificated through the low stringency single primer-polymerase chain reaction (LSSP-PCR). The data generated after amplification were submitted to bioinformatics analysis.Results: Of the 27 patients evaluated in the study, 8/27 (29.6%) were male and 19/27 (70.4%) female, 17/27 (62.9%) were previously classified with the indeterminate clinical form of Chagas disease and 10/27 (37.1%) with Chagas cardiomyopathy. The LSSP-PCR detected 432 band fragments from 80 to 1,500 bp. The unweighted pair-group method analysis and principal coordinated analysis data demonstrated the existence of three distinct genetic groups with moderate-high rates of intraspecific genetic variability/diversity that had shared parasite's alleles in patients with the indeterminate and cardiomyopathy forms of ChD.Conclusions: This study demonstrated the existence of a moderate to high rate of intra-DTU TcV variability in T. cruzi. Certain alleles of the parasite were associated with the absence of clinical manifestations in patients harboring the indeterminate form of ChD. These results support the need to search for increasingly specific targets in the genome of T. cruzi to be correlated with its main biological properties and clinical features in patients with chronic ChD.
Association of Genetic Variants in IGF2-Related Genes With Risk of Metabolic Syndrome in the Chinese Han Population
Authors: Gui Weiwei , Liang Julong , Lin Xihua , Shi Nanjing , Zhu Yiyi , Tan Bowen , Li Hong 
Published: May 2021

AimsTo explore associations between polymorphisms of IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R and Metabolic syndrome (MetS) susceptibility in the Chinese Han population.Methods66 subjects with MetS and 257 control subjects were collected for inclusion in a case-control study. PCR-RFLP was used to investigate polymorphisms in the H19, IGF2, IGF2BP2 and IGF2R genes. Elisa was used to detect the serum IGF2 concentrations.ResultsFemales carrying the GG and AG genotypes of rs680 (IGF2) exhibited a lower risk of MetS, compared with those harboring AA (adjusted OR = 0.388, p = 0.027), while GG and AG genotypes were associated with lower fasting glucose and HbA1c. In males, the Waist-to-Hip Ratio (WHR) and the level of TG were significantly higher in GG and AG genotypes than in the AA genotype of rs680 in IGF2. Levels of HDL-c were lower in men with GG and AG genotypes compared with those carrying the AA genotype. Serum IGF2 concentrations did not change among different genotypes. Finally, multifactor dimensionality reduction (MDR) analysis identified interactions between four polymorphisms: rs3741279 (H19), rs680 (IGF2), rs1470579 (IGF2BP2) and rs629849 (IGF2R).ConclusionsOur study suggests that IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R genes may play pivotal roles in the development of MetS.
TRPM2, PDLIM5, BCL3, CD14, GBA Genes as Feasible Markers for Premature Coronary Heart Disease Risk
Authors: Prasongsukarn Kriengchai , Dechkhajorn Wilanee , Benjathummarak Surachet , Maneerat Yaowapa 
Published: May 2021

Background: Beyond non-genetic risk factors, familial hypercholesterolemia (FH) plays a major role in the development of CHD. FH is a genetic disorder characterized by heritable and severely elevated levels of low-density lipoprotein (LDL) cholesterol, which can lead to premature cardiovascular disease, particularly familial coronary heart disease (FH-CHD).Method: To explore genes indicating a risk of familial (premature) coronary heart disease (FH-CHD) development in FH, 30 Thai male volunteers were enrolled: 7 healthy controls (N), 6 patients with hypercholesterolemia (H), 4 with FH, 10 with CHD, and 3 with FH-CHD. Transcriptome data were investigated using next-generation sequencing analysis in whole blood (n = 3). Genes that were significantly expressed in both FH and FH-CHD, but not in N, H, and CHD groups, were selected and functionally analyzed.Results: The findings revealed that 55 intersecting genes were differentially expressed between FH and FH-CHD groups. Ten of the 55 genes (MAPK14, TRPM2, STARD8, PDLIM5, BCL3, BLOC1S5, GBA, RBMS1, CD14, and CD36 were selected for validation. These 10 genes play potential roles in chronic inflammation and are involved in pathways related to pathogenesis of CHD. Using quantitative real-time PCR, we evaluated the mRNA expression of the selected genes in all 30 volunteers. TRPM2, PDLIM5, BCL3 were significantly upregulated and GBA was significantly downregulated in both FH and FH-CHD compared with the N, H, and CHD groups.Conclusion: our preliminary investigation reveals that the TRPM2, PDLIM5, BCL3, and GBA genes may have potential for further development as predictive markers for FH-CHD.
Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay
Authors: Tung Yiehen , Lu Haiying , Lin Wenxin , Huang Tingting , Kim Samuel , Hu Guo , Zhang Gang , Zheng Guo 
Published: May 2021

Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the patient and combined them with adjacent copy number variation (CNV) regions previously reported.Methods: We collected the full medical history of the patient and summarized her clinical symptoms. Whole-exome sequencing (WES) and CapCNV analysis were performed with DNA extracted from both the patient's and her parents' peripheral blood samples. Fluorescent quantitative PCR (q-PCR) was performed for the use of verification to the CNV regions.Results: A 28.7 KB microdeletion was detected in the 1q44 region by whole-exome sequencing and low-depth whole-genome sequencing. The deleted region included the genes COX20 and HNRNPU. As verification, karyotype analysis showed no abnormality, and the results of qPCR were consistent with that of whole-exome sequencing and CapCNV analysis.Conclusion: The patient was diagnosed with 1q44 microdeletion syndrome with clinical and genetic analysis. Analyzing both whole-exome sequencing and CapCNV analysis can not only improve the diagnostic rate of clinically suspected syndromes that present with intellectual disability (ID) and multiple malformations but also support further study of the correlation between CNVs and clinical phenotypes. This study lays the foundation for the further study of the pathogenesis of complex diseases.
Visible-Light-Driven Photocatalytic Water Disinfection Toward Escherichia coli by Nanowired g-C3N4 Film
Authors: Zhang Yizhu , Su Shigang , Zhang Yuanyuan , Zhang Xia , Giusto Paolo , Huang Xiaohua , Liu Jian 
Published: May 2021

Graphitic carbon nitride (g-C3N4) as metal-free visible light photocatalyst has recently emerged as a promising candidate for water disinfection. Herein, a nanowire-rich superhydrophilic g-C3N4 film was prepared by a vapor-assisted confined deposition method. With a disinfection efficiency of over 99.99% in 4 h under visible light irradiation, this nanowire-rich g-C3N4 film was found to perform better than conventional g-C3N4 film. Control experiments showed that the disinfection performance of the g-C3N4 film reduced significantly after hydrophobic treatment. The potential disinfection mechanism was investigated through scavenger-quenching experiments, which indicate that H2O2 was the main active specie and played an important role in bacteria inactivation. Due to the metal-free composition and excellent performance, photocatalytic disinfection by nanowire-rich g-C3N4 film would be a promising and cost-effective way for safe drinking water production.
Telerehabilitation for Word Retrieval Deficits in Bilinguals With Aphasia: Effectiveness and Reliability as Compared to In-person Language Therapy
Authors: Peñaloza Claudia , Scimeca Michael , Gaona Angelica , Carpenter Erin , Mukadam Nishaat , Gray Teresa , Shamapant Shilpa , Kiran Swathi 
Published: May 2021

Background: Bilinguals with post-stroke aphasia (BWA) require treatment options that are sensitive to their particular bilingual background and deficits across languages. However, they may experience limited access to bilingual clinical resources due to reduced availability of bilingual practitioners, geographical constraints, and other difficulties. Telerehabilitation can improve access to bilingual clinical services for BWA and facilitate the delivery of specific language treatments at distance, but more evidence on its effectiveness and reliability is needed. This study aimed to determine the equivalence of effectiveness and reliability of a semantic treatment for word retrieval deficits in BWA delivered via telerehabilitation relative to in-person therapy.Methods: We examined the retrospective data of 16 BWA who received 20 sessions of therapy based on semantic feature analysis for word retrieval deficits in person (n = 8) or via telerehabilitation (n = 8). The two groups were comparable on age, years of education, time of post-stroke onset, aphasia severity, and naming ability in both languages. Treatment effectiveness (i.e., effect sizes in the treated and the untreated language, and change on secondary outcome measures) and reliability (i.e., clinician adherence to treatment protocol) were computed for each delivery modality and compared across groups.Results: Significant improvements were observed in most patients, with no significant differences in treatment effect sizes or secondary outcomes in the treated and the untreated language between the teletherapy group and the in-person therapy group. Also, the average percentage of correctly delivered treatment steps by clinicians was high for both therapy delivery methods with no significant differences between the telerehabilitation vs. the in-person modality.Discussion: This study provides evidence of the equivalence of treatment gains between teletherapy and in-person therapy in BWA and the high reliability with which treatment for word retrieval deficits can be delivered via telerehabilitation, suggesting that the essential treatment components of the intervention can be conducted in a comparable manner in both delivery modalities. We further discuss the benefits and potential challenges of the implementation of telerehabilitation for BWA. In the future, telerehabilitation may increase access to therapy for BWA with varying linguistic and cultural backgrounds, thus, offering a more inclusive treatment approach to this population.
Safety, Tolerability, and Effect of Nusinersen Treatment in Ambulatory Adults With 5q-SMA
Authors: Elsheikh Bakri , Severyn Steven , Zhao Songzhu , Kline David , Linsenmayer Matthew , Kelly Kristina , Tellez Marco , Bartlett Amy , Heintzman Sarah , Reynolds Jerry , Sterling Gary , Weaver Tristan , Rajneesh Kiran , Kolb Stephen J. , Arnold W. David 
Published: May 2021

Objective: To determine the safety and tolerability of nusinersen treatment in ambulatory adults with spinal muscular atrophy (SMA) and investigate the treatment effect on muscle strength, physical function, and motor unit physiology.Methods: Individuals aged 18 years or older with genetically confirmed 5q SMA, three or more copies of the SMN2 gene, and the ability to ambulate 30 feet were enrolled. Safety outcomes included the number of adverse events and serious adverse events, clinically significant vital sign or laboratory parameter abnormalities. Outcome assessments occurred at baseline (prior to the first dose of nusinersen) and then 2, 6, 10, and 14 months post-treatment.Results: Six women, seven men (mean age: 37 ± 11, range: 18–59 years) were included for analyses. The most common side effects were headache and back pain, but overall procedures and treatments were well-tolerated. No serious adverse events were reported. Maximal Voluntary Isometric Muscle Contraction Testing (MVICT) and 6-min walk test (6MWT) both showed overall stability with significant increases at 2, 6, and 10 months for the 6MWT. More consistent significant treatment effects were noted on the Hammersmith Functional Motor Scale Expanded, SMA-Functional Rating Scale, and forced vital capacity. Treatment resulted in progressively increased ulnar compound muscle action potential and average single motor unit potential amplitudes, but motor unit number estimation remained stable.Conclusions: Nusinersen treatment is safe and well-tolerated in ambulatory adults with SMA. Treatment resulted in improved motor function and electrophysiological findings suggest that this improvement may be occurring via improved motor unit reinnervation capacity.
Prevalence, Severity, and Clinical Management of Brain Incidental Findings in Healthy Young Adults: MRi-Share Cross-Sectional Study
Authors: Soumaré Aïcha , Beguedou Naka , Laurent Alexandre , Brochet Bruno , Bordes Constance , Mournet Sandy , Mellet Emmanuel , Pereira Edwige , Pollet Clothilde , Lachaize Morgane , Mougin Marie , Tsuchida Ami , Loiseau Hugues , Tourdias Thomas , Tzourio Christophe , Mazoyer Bernard , Debette Stéphanie 
Published: May 2021

Background and Objectives: Young adults represent an increasingly large proportion of healthy volunteers in brain imaging research, but descriptions of incidental findings (IFs) in this age group are scarce. We aimed to assess the prevalence and severity of IFs on brain MRIs of healthy young research participants aged 18–35 years, and to describe the protocol implemented to handle them.Methods: The study population comprised 1,867 participants aged 22.1 ± 2.3 years (72% women) from MRi-Share, the cross-sectional brain MRI substudy of the i-Share student cohort. IFs were flagged during the MRI quality control. We estimated the proportion of participants with IFs [any, requiring medical referral, potentially serious (PSIFs) as defined in the UK biobank]: overall, by type and severity of the final diagnosis, as well as the number of IFs.Results: 78/1,867 participants had at least one IF [4.2%, 95% Confidence Interval (CI) 3.4–5.2%]. IFs requiring medical referral (n = 38) were observed in 36/1,867 participants (1.9%, 1.4–2.7%), and represented 47.5% of the 80 IFs initially flagged. Referred IFs were retrospectively classified as PSIFs in 25/1,867 participants (1.3%, 0.9–2.0%), accounting for 68.4% of anomalies referred (26/38). The most common final diagnosis was cysts or ventricular abnormalities in all participants (9/1,867; 0.5%, 0.2–0.9%) and in those with referred IFs (9/36; 25.0%, 13.6–41.3%), while it was multiple sclerosis or radiologically isolated syndrome in participants with PSIFs (5/19; 26.3%, 11.5–49.1%) who represented 0.1% (0.0–0.4%) and 0.2% (0.03–0.5%) of all participants, respectively. Final diagnoses were considered serious in 11/1,867 participants (0.6%, 0.3–1.1%). Among participants with referred IFs, 13.9% (5/36) required active intervention, while 50.0% (18/36) were put on clinical surveillance.Conclusions: In a large brain imaging study of young healthy adults participating in research we observed a non-negligible frequency of IFs. The etiological pattern differed from what has been described in older adults.