bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fine mapping of the HLA locus in Parkinson’s disease in Europeans
Authors: Yu Eric , Ambati Aditya , Andersen Maren Stolp , Krohn Lynne , Estiar Mehrdad A. , Saini Prabhjyot , Senkevich Konstantin , Sosero Yuri L. , Sreelatha Ashwin Ashok Kumar , Ruskey Jennifer A. , Asayesh Farnaz , Spiegelman Dan , Toft Mathias , Viken Marte K. , Sharma Manu , Blauwendraat Cornelis , Pihlstrøm Lasse , Mignot Emmanuel , Gan-Or Ziv 
Published: September 2021

AbstractWe fine mapped the leukocyte antigen (HLA)region in 13,770 Parkinson’s disease (PD) patients, 20,214 proxy-cases, and 490,861 controls of European origin. FourHLAtypes were associated with PD after correction for multiple comparisons,HLA-DQA1*03:01,HLA-DQB1*03:02,HLA-DRB1*04:01, andHLA-DRB1*04:04. Haplotype analyses followed by amino acid analysis and conditional analyses suggested that the association is protective and primarily driven by three specific amino acid polymorphisms present in mostHLA-DRB1*04 subtypes—11V, 13H, and 33H (OR = 0.87, 95% CI: 0.83–0.90,p < 8.23 × 10−9for all three variants). No other effects were present after adjustment for these amino acids. Our results suggest that specificHLA-DRB1variants are associated with reduced risk of PD, providing additional evidence for the role of the immune system in PD. Although effect size is small and has no diagnostic significance, understanding the mechanism underlying this association may lead to the identification of new targets for therapeutics development.
No association between cortical dopamine D2 receptor availability and cognition in antipsychotic-naive first-episode psychosis
Authors: Lee Maria , Fatouros-Bergman Helena , Plavén-Sigray Pontus , Ikonen Victorsson Pauliina , Sellgren Carl M. , Erhardt Sophie , Flyckt Lena , Farde Lars , Cervenka Simon 
Published: September 2021

AbstractCognitive impairment is an important predictor of disability in schizophrenia. Dopamine neurotransmission in cortical brain regions has been suggested to be of importance for higher-order cognitive processes. The aim of this study was to examine the relationship between extrastriatal dopamine D2-R availability and cognitive function, using positron emission tomography and the high-affinity D2-R radioligand [11C]FLB 457, in an antipsychotic-naive sample of 18 first-episode psychosis patients and 16 control subjects. We observed no significant associations between D2-R binding in the dorsolateral prefrontal cortex or hippocampus (β = 0.013–0.074, partial r = −0.037–0.273, p = 0.131–0.841). Instead, using Bayesian statistics, we found moderate support for the null hypothesis of no relationship (BFH0:H1 = 3.3–8.2). Theoretically, our findings may suggest a lack of detrimental effects of D2-R antagonist drugs on cognition in schizophrenia patients, in line with clinical observations.
ECG-based machine-learning algorithms for heartbeat classification
Authors: Aziz Saira , Ahmed Sajid , Alouini Mohamed-Slim 
Published: September 2021

AbstractElectrocardiogram (ECG) signals represent the electrical activity of the human hearts and consist of several waveforms (P, QRS, and T). The duration and shape of each waveform and the distances between different peaks are used to diagnose heart diseases. In this work, to better analyze ECG signals, a new algorithm that exploits two-event related moving-averages (TERMA) and fractional-Fourier-transform (FrFT) algorithms is proposed. The TERMA algorithm specifies certain areas of interest to locate desired peak, while the FrFT rotates ECG signals in the time-frequency plane to manifest the locations of various peaks. The proposed algorithm’s performance outperforms state-of-the-art algorithms. Moreover, to automatically classify heart disease, estimated peaks, durations between different peaks, and other ECG signal features were used to train a machine-learning model. Most of the available studies uses the MIT-BIH database (only 48 patients). However, in this work, the recently reported Shaoxing People’s Hospital (SPH) database, which consists of more than 10,000 patients, was used to train the proposed machine-learning model, which is more realistic for classification. The cross-database training and testing with promising results is the uniqueness of our proposed machine-learning model.
Mendelian randomization study on atrial fibrillation and cardiovascular disease subtypes
Authors: Kwok Man Ki , Schooling Catherine Mary 
Published: September 2021

AbstractAtrial fibrillation (AF) has been associated with numerous diseases. However, whether AF is a cause or consequence of these diseases is uncertain. To clarify, we assessed the causal role of AF on ischemic heart disease (IHD), stroke, other cardiovascular disease (CVD) subtypes, type 2 diabetes mellitus (T2DM), and late-onset AD using bi-directional two-sample Mendelian randomization (MR) among people primarily of European descent. Genetically predicted log odds of AF was associated with any stroke (odds ratio (OR) 1.22, 95% CI 1.18 to 1.27), particularly cardioembolic stroke and possibly subdural hemorrhage, with sensitivity analyses showing similar positive findings. Genetically predicted AF was also associated with arterial thromboembolism (1.32, 1.13 to 1.53), and heart failure (1.26, 1.21 to 1.30). No association of genetically predicted AF with IHD, T2DM, cognitive function, or late-onset AD was found. Conversely, genetically predicted IHD, heart failure and possibly ischemic stroke, particularly cardioembolic stroke, were positively associated with AF. Atrial fibrillation plays a role in any stroke, arterial thromboembolism, and heart failure, corroborating current clinical guidelines on the importance of preventing these complications by effective AF management. In addition, patients with IHD, heart failure or possibly ischemic stroke might be predisposed to developing AF, with implications for management.
Risk factors associated with suicide among esophageal carcinoma patients from 1975 to 2016
Authors: Chen Chongfa , Lin Huapeng , Xu Fengfeng , Liu Jianyong , Cai Qiucheng , Yang Fang , Lv Lizhi , Jiang Yi 
Published: September 2021

AbstractThroughout the world, esophageal cancer patients had a greater suicidal risk compared with ordinary people. Thus, we aimed to affirm suicide rates, standardized mortality rates, and underlying suicide-related risk factors of esophageal cancer patients. Patients suffering esophageal cancer were chosen from the Surveillance, Epidemiology, and End Results repository in 1975–2016. Suicide rates as well as standardized mortality rates in the patients were measured. Univariable and multivariable Cox regression had been adopted for establishing the latent suicide risk factors among patients suffering esophageal cancer. On multivariable Cox regression, gender (male vs. female, HR: 6.37), age of diagnosis (70–105 vs. 0–55, HR: 2.69), marital status, race (white race vs. black race, HR: 6.64; American Indian/Alaska Native, Asian/Pacific Islander vs. black race, HR: 8.60), histologic Grade (Grade III vs. Grade I, HR: 2.36), no surgery performed (no/unknown vs. yes, HR: 2.01), no chemotherapy performed were independent risk factors related to suicide in patients suffering esophageal cancer. Male sex, the older age, unmarried state, non-black race, histologic Grade III, no surgery performed, no chemotherapy performed were strongly related to suicide in patients suffering esophageal cancer.
The multiple mechanisms of MCL1 in the regulation of cell fate
Authors: Widden Hayley , Placzek William J. 
Published: September 2021

AbstractMCL1 (myeloid cell leukemia-1) is a widely recognized pro-survival member of the Bcl-2 (B-cell lymphoma protein 2) family and a promising target for cancer therapy. While the role MCL1 plays in apoptosis is well defined, its participation in emerging non-apoptotic signaling pathways is only beginning to be appreciated. Here, we synthesize studies characterizing MCL1s influence on cell proliferation, DNA damage response, autophagy, calcium handling, and mitochondrial quality control to highlight the broader scope that MCL1 plays in cellular homeostasis regulation. Throughout this review, we discuss which pathways are likely to be impacted by emerging MCL1 inhibitors, as well as highlight non-cancerous disease states that could deploy Bcl-2 homology 3 (BH3)-mimetics in the future.
Heterogeneous node copying from hidden network structure
Authors: Falkenberg Max 
Published: September 2021

AbstractNode copying is an important mechanism for network formation, yet most models assume uniform copying rules. Motivated by observations of heterogeneous triadic closure in real networks, we introduce the concept of a hidden network model—a generative two-layer model in which an observed network evolves according to the structure of an underlying hidden layer—and apply the framework to a model of heterogeneous copying. Framed in a social context, these two layers represent a node’s inner social circle, and wider social circle, such that the model can bias copying probabilities towards, or against, a node’s inner circle of friends. Comparing the case of extreme inner circle bias to an equivalent model with uniform copying, we find that heterogeneous copying suppresses the power-law degree distributions commonly seen in copying models, and results in networks with much higher clustering than even the most optimum scenario for uniform copying. Similarly large clustering values are found in real collaboration networks, lending empirical support to the mechanism.
Structural complexity and the metal-to-semiconductor transition in lead telluride
Authors: Zelenina Iryna , Simon Paul , Veremchuk Igor , Wang Xinke , Bobnar Matej , Lu Wenjun , Liebscher Christian H. , Grin Yuri 
Published: September 2021

AbstractLead chalcogenides are known for their thermoelectric properties since the first work of Thomas Seebeck on the discovery of this phenomenon. Yet, the electronic properties of lead telluride are still of interest due to the incomplete understanding of the metal-to-semiconductor transition at temperatures around 230 °C. Here, a temperature-dependent atomic-resolution transmission electron microscopy study performed on a single crystal of lead telluride reveals structural reasons for this electronic transition. Below the transition temperature, the formation of a dislocation network due to shifts of the NaCl-like atomic slabs perpendicular to {100} was observed. The local structure modification leads to the appearance of in-gap electronic states and causes metal-like electronic transport behavior. The dislocation network disappears with increasing temperature, yielding semiconductor-like electrical conductivity, and re-appears after cooling to room temperature restoring the metal-like behavior. The structural defects coupled to the ordering of stereochemically active lone pairs of lead atoms are discussed in the context of dislocations' formation.
Electrochemical Synthesis of 2-Bromoethyl and 2-Iodoethyl Ketones from Cyclopropanols
Authors: Hurski Alaksiej L. , Barysevich Maryia V. , Aniskevich Yauhen M. 
Published: September 2021

AbstractA simple electrochemical protocol for the preparation of 2-bromoethyl- and 2-iodoethyl ketones from cyclopropanols and magnesium halides has been developed. The reaction proceeded with exclusive regioselectivity and without epimerization of the α-stereocenter in the products. We also showed that the synthesized diastereomerically pure 2-bromoethyl ketones undergo smooth copper and nickel-catalyzed alkylation, alkenylation, and arylations reactions.
Sinus Node Dysfunction and Pulmonary Hypertension—“Double Trouble” with Lithium Therapy
Authors: Vohra Shweta , Pradhan Akshyaya , Sethi Rishi , Bhandari Monika 
Published: September 2021

AbstractLithium is considered a gold standard drug for the management of bipolar disorder and is a widely used mood-stabilizing drug in psychiatry practice. However, its side effects are of important concern. The narrow therapeutic index of lithium predispose to its toxicity/side effects, but various case reports and research has shown that adverse drug reactions can occur even in the therapeutic range. We present the case of a 56-year-old woman with no history of cardiac illness presenting with tachycardia-bradycardia syndrome along with moderate pulmonary hypertension. Patients recovered to sinus rhythm after withholding lithium therapy for 1 week while her mean pulmonary artery pressure remained the same at day 10 of drug withdrawal.
3D MRI of the Shoulder
Authors: Daniels Steven P. , Gyftopoulos Soterios 
Published: September 2021

AbstractMagnetic resonance imaging provides a comprehensive evaluation of the shoulder including the rotator cuff muscles and tendons, glenoid labrum, long head biceps tendon, and glenohumeral and acromioclavicular joint articulations. Most institutions use two-dimensional sequences acquired in all three imaging planes to accurately evaluate the many important structures of the shoulder. Recently, the addition of three-dimensional (3D) acquisitions with 3D reconstructions has become clinically feasible and helped improve our understanding of several important pathologic conditions, allowing us to provide added value for referring clinicians. This article briefly describes techniques used in 3D imaging of the shoulder and discusses applications of these techniques including measuring glenoid bone loss in anterior glenohumeral instability. We also review the literature on routine 3D imaging for the evaluation of common shoulder abnormalities as 3D imaging will likely become more common as imaging software continues to improve.
Photovoltaic distribution on an amorphous-silicon solar cell in near-band-edge excitation observed by conductive-probe atomic force microscopy combined with a fine-wavelength-tunable light source
Authors: Mitsui Tadashi , Ishikawa Nobuhiro , Takeguchi Masaki 
Published: September 2021

We describe the development of a conductive-probe atomic force microscopy method combined with a fine-wavelength-tunable light source and use it to observe the photovoltaic distribution on a cross-sectional surface of an amorphous-silicon solar cell in near-band-edge excitation. The light source’s wavelength resolution is dλ = 1 nm, and its intensity is 1 µW/cm2 (10 mW/m2); this excitation condition is sufficiently fine and weak to investigate electrical properties in the near-band-edge wavelength range. The photovoltage is observed in the indium tin oxide (ITO) region, and the maximum photovoltage increases when we increase the excitation energy of the illumination light. However, the photovoltaic distribution parallel to the ITO layer becomes relatively localized as the excitation energy increases. This localized photovoltaic distribution suggests that the conductivity of the electric current path within the ITO layer should be inhomogeneous.
The molecular characterization of antibody binding to a superantigen-like protein from a commensal microbe
Authors: Borowska Marta T. , Drees Christoph , Yarawsky Alexander E. , Viswanathan Mayuri , Ryan Sean M. , Bunker Jeffrey J. , Herr Andrew B. , Bendelac Albert , Adams Erin J. 
Published: September 2021

SignificanceSuperantigens are proteins that induce a vast activation of the immune system and are typically found in pathogenic microbes. Recently, proteins with superantigen-like properties were discovered in a commensal bacterium inhabiting the human gut, but little is known about the impact of this protein on host/commensal interaction. Here, we characterize the superantigen-like protein immunoglobulin-binding protein (Ibp) expressed byRuminococcus gnavus, which has broad specificity to human and mouse immunoglobulins. We present the crystal structure of the Ibp/Fab complex and show that one of Ibp’s domains alone is sufficient to activate B cells. This work provides an understanding of superantigen-like molecules potentially playing a role in the maintenance of host/microbiome homeostasis.
Lung Findings in Minimally Invasive Tissue Sampling (MITS) Examinations of Fetal and Preterm Neonatal Deaths: A Report From the PURPOSe Study
Authors: Guruprasad Gowdar , Dhaded Sangappa , Yogesh Kumar S , Somannavar Manjunath S , Goudar Shivaprasad S , Kulkarni Vardendra , Kumar Sunil , Nagaraj T S , Uddin Zeesham , Minhas Khurram , Zafar Afia , Tikmani Shiyam Sunder , Saleem Sarah , Hwang Kay , Aceituno Anna , McClure Elizabeth M , Goldenberg Robert L 
Published: September 2021

Abstract

Background
Complete diagnostic autopsy (CDA) is considered to be the gold-standard procedure that aids in determination of cause of death in stillbirths and neonatal deaths. However, CDA is not routinely practiced in South Asian countries due to religious beliefs, lack of expertise, and lack of resources. Minimally invasive tissue sampling (MITS) has been recommended as a less mutilating and less expensive alternative to CDA for obtaining tissues for analysis. The present study aims to evaluate the yield of lung tissue and histological findings using MITS as part of a cause of death analysis for stillborns and preterm neonatal deaths.

Methods
Data were collected during an observational multicenter prospective study called the Project to Understand and Research Preterm birth and Stillbirth (PURPOSe) conducted in India and Pakistan. After obtaining written informed consent from parents, the eligible stillbirths and neonatal deaths were subjected to MITS using a standard protocol. The tissues were obtained from both lungs for histological and microbiological analysis.

Results
At both sites, a total of 453 stillbirths and 352 neonatal deaths underwent MITS. For stillbirths and neonatal deaths, the yield of lung tissue using MITS was high (92%). Intrauterine fetal distress and respiratory distress syndrome were the leading lung pathologies reported in stillbirths and neonatal deaths, respectively.

Conclusions
MITS appears to be a reasonable alternative to CDA in obtaining and evaluating lung tissue to inform accurate cause of death analysis in stillbirth and preterm deaths.
Pressure-dependent joint elastic–electrical properties in brine-saturated artificial sandstones with aligned penny-shaped cracks—Part II: Theoretical modelling
Authors: Yan Han , Han Tongcheng , Fu Li-Yun , Li Bo 
Published: September 2021

SUMMARY
Cracks are widely existing in natural rocks, and the effects of cracks on the elastic and electrical properties of rocks make it possible to establish appropriate joint interpretation to detect the crack characteristics more accurately. However, the premise is the knowledge of the joint elastic–electrical properties of cracked rocks. We aim to study theoretically the pressure-dependent joint elastic–electrical properties of porous rocks with aligned penny-shaped cracks. To do so, we developed a model describing the deformation of cracks in a transversely isotropic (TI) background with stress, and combined with existing models for the anisotropic elastic and electrical properties of TI rocks with aligned cracks. The impacts of crack deformation on the anisotropic elastic and electrical properties of cracked rocks, and the effects of crack porosity and crack aspect ratio on the pressure-dependent joint elastic–electrical properties were then studied. We showed that the modelling results compared satisfactorily with experimental data. The modelling results demonstrated that the crack compaction with stress reduced the elastic and electrical anisotropy. We also found that the anisotropic elastic wave velocities and electrical conductivities of cracked rocks exhibited approximately negative linear correlations when linked by the effective stress, and the slopes and intercepts of the linear relationships were shown to be systematically dependent on the porosity and aspect ratio of the aligned cracks. The above knowledge of the pressure-dependent joint elastic–electrical properties of TI rocks with aligned cracks can be employed for quantitative interpretation of the joint elastic and electrical exploration data.
Stable Latent HIV Infection and Low-level Viremia Despite Treatment With the Broadly Neutralizing Antibody VRC07-523LS and the Latency Reversal Agent Vorinostat
Authors: Gay Cynthia L , James Katherine S , Tuyishime Marina , Falcinelli Shane D , Joseph Sarah B , Moeser Matthew J , Allard Brigitte , Kirchherr Jennifer L , Clohosey Matthew , Raines Samuel L M , Montefiori David C , Shen Xiaoying , Gorelick Robert J , Gama Lucio , McDermott Adrian B , Koup Richard A , Mascola John R , Floris-Moore Michelle , Kuruc JoAnn D , Ferrari Guido , Eron Joseph J , Archin Nancie M , Margolis David M 
Published: September 2021

Abstract
We tested the combination of a broadly neutralizing HIV antibody with the latency reversal agent vorinostat (VOR). Eight participants received 2 month-long cycles of VRC07-523LS with VOR. Low-level viremia, resting CD4+ T-cell–associated HIV RNA (rca-RNA) was measured, and intact proviral DNA assay (IPDA) and quantitative viral outgrowth assay (QVOA) were performed at baseline and posttreatment. In 3 participants, IPDA and QVOA declines were accompanied by significant declines of rca-RNA. However, no IPDA or QVOA declines clearly exceeded assay variance or natural decay. Increased resistance to VRC07-523LS was not observed. This combination therapy did not reduce viremia or the HIV reservoir.
Clinical Trials Registration. NCT03803605.
Beyond Titer: Expanding the Scope of Clinical Autoantibody Testing
Authors: Treger Rebecca S , Fink Susan L 
Published: September 2021

AbstractBackgroundAutoantibodies that bind self-antigens are a hallmark of autoimmune diseases, but can also be present in healthy individuals. Clinical assays that detect and titer antigen-specific autoantibodies are an important component of the diagnosis and monitoring of autoimmune diseases. Autoantibodies may contribute to disease pathogenesis via effector functions that are dictated by both the antigen-binding site and constant domain.ContentIn this review, we discuss features of antibodies, in addition to antigen-binding specificity, which determine effector function. These features include class, subclass, allotype, and glycosylation. We discuss emerging data indicating that analysis of these antibody features may be informative for diagnosis and monitoring of autoimmune diseases. We also consider methodologies to interrogate these features and consider how they could be implemented in the clinical laboratory.SummaryFuture autoantibody assays may incorporate assessment of additional antibody features that contribute to autoimmune disease pathogenesis and provide added clinical value.
Qua-alluding to the Past: A Case of Methaqualone Analog Ingestion
Authors: Lund Kyle , Srihari Priya , Suhandynata Raymond T , Schwartz Kristy , Fitzgerald Robert L , Kreshak Allyson A 
Published: September 2021

Abstract
Methaqualone, known previously under the brand name Quaalude, is a Schedule I sedative hypnotic drug that may cause neurotoxicity in overdose, characterized by somnolence, hyperreflexia and muscular hyperactivity. We present a case of a 21-year-old male who reportedly ingested methaqualone in addition to insufflation of street cocaine. He subsequently developed hypoxia, hyperreflexia, myoclonus and altered mental status. His laboratory results were notable for the presence of methemoglobinemia, which was most likely due to a cocaine contaminant. Laboratory analysis of the alleged methaqualone pills identified the substance as SL-164, a dichlorinated methaqualone analog. Urine toxicology results were positive for SL-164 (and presumed metabolites) as well as for cocaine and tetrahydrocannabinol metabolites. The patient was treated with supplemental oxygen and a benzodiazepine (lorazepam) and observed in the Emergency Department until his symptoms resolved. This case highlights current community access to methaqualone analogs. The case also focuses on laboratory techniques used to identify the methaqualone analog.