bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions
Authors: Psol Maryna , Darvas Sofia Guerin , Leite Kristian , Mahajani Sameehan U , Bähr Mathias , Kügler Sebastian 
Published: February 2021

Abstract
Beta (ß)-synuclein (ß-Syn) has long been considered to be an attenuator for the neuropathological effects caused by the Parkinson’s disease-related alpha (α)-synuclein (α-Syn) protein. However, recent studies demonstrated that overabundant ß-Syn can form aggregates and induce neurodegeneration in central nervous system (CNS) neurons in vitro and in vivo, albeit at a slower pace as compared with α-Syn. Here, we demonstrate that ß-Syn mutants V70M, detected in a sporadic case of dementia with Lewy bodies (DLB), and P123H, detected in a familial case of DLB, robustly aggravate the neurotoxic potential of ß-Syn. Intriguingly, the two mutations trigger mutually exclusive pathways. ß-Syn V70M enhances morphological mitochondrial deterioration and degeneration of dopaminergic and non-dopaminergic neurons, but it has no influence on neuronal network activity. Conversely, ß-Syn P123H silences neuronal network activity, but it does not aggravate neurodegeneration. ß-Syn wild type (WT), V70M and P123H formed proteinase K-resistant intracellular fibrils within neurons, albeit with less stable C-termini as compared with α-Syn. Under cell-free conditions, ß-Syn V70M demonstrated a much slower pace of fibril formation as compared with WT ß-Syn, and P123H fibrils present with a unique phenotype characterized by large numbers of short, truncated fibrils. Thus, it is possible that V70M and P123H cause structural alterations in ß-Syn, which are linked to their distinct neuropathological profiles. The extent of the lesions caused by these neuropathological profiles is almost identical to that of overabundant α-Syn and is thus likely to be directly involved into the etiology of DLB. Overall, this study provides insights into distinct disease mechanisms caused by mutations of ß-Syn.
Progressing diversification and biogeography of the mesopelagic Nematoscelis (Crustacea: Euphausiacea) in the Atlantic
Authors: Kulagin D N , Lunina A A , Simakova U V , Vereshchaka A L 
Published: February 2021

Abstract
Evolutionary mechanisms driving the diversification of pelagic animals remain poorly understood, partly due to the high levels of gene flow in the open ocean. We use molecular phylogenetics, morphological, and phylogeographic approaches to test the allopatric speciation model in respect to the Atlantic krill genus Nematoscelis. Based on our observations, we hypothesize that diversification in genus Nematoscelis may occur through three progressing stages: (i) populations separated geographically and divergence occurred in the mitochondrial COI gene only (Nematoscelis megalops, one clade of Nematoscelis tenella), (ii) morphology diverged (clades of Nematoscelis microps and Nematoscelis atlantica), and (iii) the nuclear H3 gene diverged (clades of N. tenella). Our results confirm allopatric expectations and the dispersal-limiting speciation model. We propose that the primary driver of diversification is geographic isolation coupled with hydrology-linked gene barriers at ∼14–22°N (new) and ∼30°S. The second driver preventing hybridization of diverged populations is linked to external morphology, i.e. enlarged photophores and chitin saddles on the pleon of males, which facilitate sexual selection by female choice. Same-male forms, even belonging to different species, rarely co-occur, which makes the selection effective and not biased. Our results implicate a significant role of non-copulatory characters in Nematoscelis speciation.
Successful management of donor-acquired fat embolism after lung transplantation
Authors: Glorion Matthieu , Sarsam Matthieu , de Wolf Julien , Sage Edouard 
Published: February 2021

Abstract
Fat embolism is a serious complication in patients with multiple traumatic injuries. It is often asymptomatic during the first hours of resuscitation, thus remains underdiagnosed in patients who progress to brain death. Lung transplantation issued from such grafts can lead to severe lung primary graft dysfunction, the management of which is deemed difficult. Herein, we report a successful management of donor-acquired fat embolism syndrome after lung transplant in a 22 years old woman for cystic fibrosis. Fat embolism was suspected because of the donor’s traumatic injuries and confirmed by histopathological analysis. An immediate postoperative primary graft dysfunction was successfully managed with veno-arterial extracorporeal membrane oxygenation. The patient is alive 31 months after surgery.
S-Variant SARS-CoV-2 Lineage B1.1.7 Is Associated With Significantly Higher Viral Load in Samples Tested by TaqPath Polymerase Chain Reaction
Authors: Kidd Michael , Richter Alex , Best Angus , Cumley Nicola , Mirza Jeremy , Percival Benita , Mayhew Megan , Megram Oliver , Ashford Fiona , White Thomas , Moles-Garcia Emma , Crawford Liam , Bosworth Andrew , Atabani Sowsan F , Plant Tim , McNally Alan 
Published: February 2021

Abstract
A SARS-CoV-2 variant B1.1.7 containing mutation Δ69/70 has spread rapidly in the United Kingdom and shows an identifiable profile in ThermoFisher TaqPath RT-qPCR, S gene target failure (SGTF). We analyzed recent test data for trends and significance. Linked cycle threshold (Ct) values for respiratory samples showed that a low Ct for ORF1ab and N were clearly associated with SGTF. Significantly more SGTF samples had higher inferred viral loads between 1×107 and 1×108. Our conclusion is that patients whose samples exhibit the SGTF profile are more likely to have high viral loads, which may explain higher infectivity and rapidity of spread.
Development and validation of prediction models for mechanical ventilation, renal replacement therapy, and readmission in COVID-19 patients
Authors: Rodriguez Victor Alfonso , Bhave Shreyas , Chen Ruijun , Pang Chao , Hripcsak George , Sengupta Soumitra , Elhadad Noemie , Green Robert , Adelman Jason , Metitiri Katherine Schlosser , Elias Pierre , Groves Holden , Mohan Sumit , Natarajan Karthik , Perotte Adler 
Published: February 2021

AbstractObjectiveCoronavirus disease 2019 (COVID-19) patients are at risk for resource-intensive outcomes including mechanical ventilation (MV), renal replacement therapy (RRT), and readmission. Accurate outcome prognostication could facilitate hospital resource allocation. We develop and validate predictive models for each outcome using retrospective electronic health record data for COVID-19 patients treated between March 2 and May 6, 2020.Materials and MethodsFor each outcome, we trained 3 classes of prediction models using clinical data for a cohort of SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2)–positive patients (n = 2256). Cross-validation was used to select the best-performing models per the areas under the receiver-operating characteristic and precision-recall curves. Models were validated using a held-out cohort (n = 855). We measured each model’s calibration and evaluated feature importances to interpret model output.ResultsThe predictive performance for our selected models on the held-out cohort was as follows: area under the receiver-operating characteristic curve—MV 0.743 (95% CI, 0.682-0.812), RRT 0.847 (95% CI, 0.772-0.936), readmission 0.871 (95% CI, 0.830-0.917); area under the precision-recall curve—MV 0.137 (95% CI, 0.047-0.175), RRT 0.325 (95% CI, 0.117-0.497), readmission 0.504 (95% CI, 0.388-0.604). Predictions were well calibrated, and the most important features within each model were consistent with clinical intuition.DiscussionOur models produce performant, well-calibrated, and interpretable predictions for COVID-19 patients at risk for the target outcomes. They demonstrate the potential to accurately estimate outcome prognosis in resource-constrained care sites managing COVID-19 patients.ConclusionsWe develop and validate prognostic models targeting MV, RRT, and readmission for hospitalized COVID-19 patients which produce accurate, interpretable predictions. Additional external validation studies are needed to further verify the generalizability of our results.
Deep-learning-based automated terminology mapping in OMOP-CDM
Authors: Kang Byungkon , Yoon Jisang , Kim Ha Young , Jo Sung Jin , Lee Yourim , Kam Hye Jin 
Published: February 2021

Abstract

Objective
Accessing medical data from multiple institutions is difficult owing to the interinstitutional diversity of vocabularies. Standardization schemes, such as the common data model, have been proposed as solutions to this problem, but such schemes require expensive human supervision. This study aims to construct a trainable system that can automate the process of semantic interinstitutional code mapping.

Materials and Methods
To automate mapping between source and target codes, we compute the embedding-based semantic similarity between corresponding descriptive sentences. We also implement a systematic approach for preparing training data for similarity computation. Experimental results are compared to traditional word-based mappings.

Results
The proposed model is compared against the state-of-the-art automated matching system, which is called Usagi, of the Observational Medical Outcomes Partnership common data model. By incorporating multiple negative training samples per positive sample, our semantic matching method significantly outperforms Usagi. Its matching accuracy is at least 10% greater than that of Usagi, and this trend is consistent across various top-k measurements.

Discussion
The proposed deep learning-based mapping approach outperforms previous simple word-level matching algorithms because it can account for contextual and semantic information. Additionally, we demonstrate that the manner in which negative training samples are selected significantly affects the overall performance of the system.

Conclusion
Incorporating the semantics of code descriptions more significantly increases matching accuracy compared to traditional text co-occurrence-based approaches. The negative training sample collection methodology is also an important component of the proposed trainable system that can be adopted in both present and future related systems.
Parechovirus A in Hospitalized Children With Respiratory Tract Infections: A 10-Year-Long Study From Norway
Authors: Skanke Lars Høsøien , Lysvand Hilde , Heimdal Inger , Moe Nina , Krokstad Sidsel , Christensen Andreas , Risnes Kari , Nordbø Svein Arne , Døllner Henrik 
Published: February 2021

Abstract

Background
The role of Parechovirus A (PeV-A) in hospitalized children with respiratory tract infections (RTIs) is unclear. We studied the occurrence and impact of PeV-A over 10 years.

Methods
Children from Sør-Trøndelag County, Norway, hospitalized with RTI and a comparison group of asymptomatic children admitted to elective surgery, were prospectively enrolled from 2006 to 2016. Nasopharyngeal aspirates were cultured and analyzed with polymerase chain reaction tests for PeV-A and 19 other pathogens. The cycle threshold levels of PeV-A were reported as measures of viral genomic loads. Parechovirus A-positive samples were genotyped by amplification and sequencing of the VP3/VP1 junction.

Results
Parechovirus A was detected in 8.8% (323/3689) patients with RTI and in 10.1% (45/444) of the children in the comparison group (P = .34). Parechovirus A genotyping (n = 188) revealed PeV-A1 (n = 121), PeV-A3 (n = 15), PeV-A5 (n = 6), and PeV-A6 (n = 46). Viral codetections occurred in 95% of patients and in 84% of the children in the comparison group (P = .016). In multivariable logistic regression analysis, RTI was unrelated to PeV-A genomic loads, adjusted for other viruses and covariates. Similar results were found for PeV-A1 and PeV-A6.

Conclusions
Parechovirus A and viral codetections were common in hospitalized children with RTI and asymptomatic children in a comparison group. Our findings suggest that PeV-A has a limited role in hospitalized children with RTI.
Nrf2 signalling pathway and autophagy impact on the preventive effect of green tea extract against alcohol-induced liver injury
Authors: Zhang Yu-Pei , Yang Xue-Qin , Yu Dong-Ke , Xiao Heng-Yi , Du Jun-Rong 
Published: February 2021

Abstract

Objectives
To explore the potential molecular mechanism underlying the effect of green tea extract (TE), rich in tea polyphenols (TPs), on improving alcohol-induced liver injury.

Methods
Mice were intragastrically treated with 50% (v/v) alcohol administration (15 ml/kg BW) with or without three doses of TE (50, 120 and 300 mg TPs/kg BW) daily for 4 weeks, and biological changes were tested.

Key findings
The TE improved the functional and histological situations in the liver of the mice accepted alcohol administration, including enzymes for alcohol metabolism, oxidative stress and lipid accumulation. Interestingly, the TE increased the nuclear translocation of nuclear factor erythroid-2-related factor 2 (Nrf2), with the decreasing expression of kelch-like ECH-associated protein 1 (Keap1), indicating the association between the effect of TE with Nrf2-mediated antioxidant signalling. Moreover, the TE restored the activity of autophagy, showing as lifted Beclin-1 expression, LC3B-II/LC3B-I ratio, and decreased p62 expression. Importantly, all these effects were dose-dependent.

Conclusions
These findings provide a new notion for the first time that the TE preventing against alcohol-induced liver injury is closely related to accelerated metabolism of alcohol and relieved oxidative stress, which is associated with Nrf2 signalling activation and autophagy restoration, thus the reduction of lipid accumulation in liver.
An unusual cause of multiple embolic strokes: cardiac myxoma, about a case
Authors: Wazaren Hicham , Bouhdadi Hanae , El Boussaadani Badre , Derqaoui Sabrine , Hosni Abdelmoughit , Idrissa Malick , Benlafqih Chakib , Rhissassi Jaafar , Sayah Rochde , Laaroussi Mohammed 
Published: February 2021

Abstract
Cardiac myxomas are the most common primary intracardiac tumors, accounting for 50% of all cardiac neoplasms, with an estimated frequency of 0.5/million/inhabitants/year. Presenting symptoms are related to cerebral or peripheral embolism, and/or intracardiac obstruction. Thus, urgent management of myxoma is mandatory due to embolism’s risk. Herein, we report the case of an 82-year-old woman with a myxoma of the left atrium, revealed by a multiple ischemic strokes, to raise awareness of this entity.
Tolerance and humoral immune response to the yellow fever vaccine in sickle cell disease children treated with hydroxyurea: a multicentre prospective study
Authors: Koehl Berengere , Aupiais Camille , Schinckel Nelly , Mornand Pierre , Odièvre Marie-Hélène , Niakate Assa , Brousse Valentine , Ithier Ghislaine , Missud Florence , Holvoet Laurent , Benkerrou Malika , Sorge Frederic , Faye Albert 
Published: February 2021

Abstract

Background
Sickle cell disease (SCD) children are frequent travellers to countries where yellow fever (YF) is endemic, but there are no data regarding the safety and immunogenicity of the vaccine in such children treated with hydroxyurea (HU). The main objective of this study was to compare the tolerance and immune response to YF vaccination in SCD children treated or not with HU.

Method
SCD children &lt; 18 years attending the international travel clinics of three large paediatric centres and requiring a first YF vaccination were included in a prospective study. Adverse events were collected 2 weeks after vaccination. YF vaccine antibody titres were measured ~6 months after vaccination.

Results
Among the 52 SCD children vaccinated against YF, 17 (33%) were treated with HU. Only mild adverse events, mainly fever and local reaction, were observed in the HU group with a similar frequency in the non-HU group (57 and 35%, respectively, P = 0.30). YF antibody titres were measured in 15/17 patients in the HU group and 23/35 patients in the non-HU group after a median of 6.0 months (3.5–8.5) following vaccination. The geometric mean of YF antibody titre was similar in both groups. A protective antibody level was observed in 85% of the children in the HU group vs 100% in the non-HU group (P = 0.14), suggesting a lower effectiveness of the vaccine in patients on HU similarly to what has been described in patients on immune suppressive therapy for other vaccines.

Conclusion
YF vaccination seems to be safe and efficient in SCD children treated with HU. Considering the potential risk of severe complications in cases of YF while travelling in Africa for those patients, the benefit-to-risk ratio argues for YF vaccination in all SCD children. Control of a protective antibody titre may also be useful to ascertain an adequate response in those treated with HU.
The Sun’s distance from the Galactic Centre and mid-plane, and the Galactic old bulge’s morphology: 715 VVV Type II Cepheids
Authors: Griv Evgeny , Gedalin Michael , Pietrukowicz Pawel , Majaess Daniel , Jiang Ing-Guey 
Published: February 2021

ABSTRACT
A statistical method is employed in tandem with new VISTA Variables in the Via Lactea (VVV) near-infrared observations to determine the Sun’s distance from the Galactic Centre (r0, GC), the Sun’s height from the local mid-plane (z0), and to likewise infer the shape of the Galactic ∼10 Gyr old bulge. Specifically, the conclusions stem from an investigation of 715 high-latitude (|b| &gt; 1°) and centrally symmetric concentrated Type II Cepheids (T2Cs) recently identified in the VVV survey by Braga et al. The analysis yields r0 = 8.35 ± 0.10 kpc and z0 = 10 ± 2 pc. The T2Cs distribution within the effective bulge radius rbulge = 2–3 kpc is an ellipsoid exhibiting axial ratios of ≈1:0.7:0.6, with the major axis inclined at an angle θ ≈ −3° to the Sun–GC sightline. T2Cs do not trace a prominent barred structure at distances &gt;1 kpc from the GC. A key conclusion is that analyses of independent optical and infrared Optical Gravitational Lensing Experiment (OGLE) and VVV observations yield consistent results (e.g. r0 &gt; 8.0 kpc and both observations display a comparable shape of an ellipsoid), thus providing a constrained and reduced systematic uncertainty.
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Authors: Aprea Isabella , Nöthe-Menchen Tabea , Dougherty Gerard W , Raidt Johanna , Loges Niki T , Kaiser Thomas , Wallmeier Julia , Olbrich Heike , Strünker Timo , Kliesch Sabine , Pennekamp Petra , Omran Heymut 
Published: February 2021

Abstract
Motile cilia line the efferent ducts of the mammalian male reproductive tract. Several recent mouse studies have demonstrated that a reduced generation of multiple motile cilia in efferent ducts is associated with obstructive oligozoospermia and fertility issues. However, the sole impact of efferent duct cilia dysmotility on male infertility has not been studied so far either in mice or human. Using video microscopy, histological- and ultrastructural analyses, we examined male reproductive tracts of mice deficient for the axonemal motor protein DNAH5: this defect exclusively disrupts the outer dynein arm (ODA) composition of motile cilia but not the ODA composition and motility of sperm flagella. These mice have immotile efferent duct cilia that lack ODAs, which are essential for ciliary beat generation. Furthermore, they show accumulation of sperm in the efferent duct. Notably, the ultrastructure and motility of sperm from these males are unaffected. Likewise, human individuals with loss-of-function DNAH5 mutations present with reduced sperm count in the ejaculate (oligozoospermia) and dilatations of the epididymal head but normal sperm motility, similar to DNAH5 deficient mice. The findings of this translational study demonstrate, in both mice and men, that efferent duct ciliary motility is important for male reproductive fitness and uncovers a novel pathomechanism distinct from primary defects of sperm motility (asthenozoospermia). If future work can identify environmental factors or defects in genes other than DNAH5 that cause efferent duct cilia dysmotility, this will help unravel other causes of oligozoospermia and may influence future practices in genetic and fertility counseling as well as ART.
Consensus recommendations for MRI and PET imaging of primary central nervous system lymphoma: guideline statement from the International Primary CNS Lymphoma Collaborative Group (IPCG)
Authors: Barajas Ramon F , Politi Letterio S , Anzalone Nicoletta , Schöder Heiko , Fox Christopher P , Boxerman Jerrold L , Kaufmann Timothy J , Quarles C Chad , Ellingson Benjamin M , Auer Dorothee , Andronesi Ovidiu C , Ferreri Andres J M , Mrugala Maciej M , Grommes Christian , Neuwelt Edward A , Ambady Prakash , Rubenstein James L , Illerhaus Gerald , Nagane Motoo , Batchelor Tracy T , Hu Leland S 
Published: February 2021

Abstract
Advanced molecular and pathophysiologic characterization of primary central nervous system lymphoma (PCNSL) has revealed insights into promising targeted therapeutic approaches. Medical imaging plays a fundamental role in PCNSL diagnosis, staging, and response assessment. Institutional imaging variation and inconsistent clinical trial reporting diminishes the reliability and reproducibility of clinical response assessment. In this context, we aimed to: (1) critically review the use of advanced positron emission tomography (PET) and magnetic resonance imaging (MRI) in the setting of PCNSL; (2) provide results from an international survey of clinical sites describing the current practices for routine and advanced imaging, and (3) provide biologically based recommendations from the International PCNSL Collaborative Group (IPCG) on adaptation of standardized imaging practices. The IPCG provides PET and MRI consensus recommendations built upon previous recommendations for standardized brain tumor imaging protocols (BTIP) in primary and metastatic disease. A biologically integrated approach is provided to addresses the unique challenges associated with the imaging assessment of PCNSL. Detailed imaging parameters facilitate the adoption of these recommendations by researchers and clinicians. To enhance clinical feasibility, we have developed both “ideal” and “minimum standard” protocols at 3T and 1.5T MR systems that will facilitate widespread adoption.
Prolonged Symptoms After COVID-19 Infection in Outpatients
Authors: Ramakrishnan Aditi , Zreloff Jennifer , Moore Miranda A , Bergquist Sharon H , Cellai Michele , Higdon Jason , O’Keefe James B , Roberts David , Wu Henry M 
Published: February 2021

Abstract
We review 127 encounters for polymerase chain reaction–confirmed coronavirus disease 2019 (COVID-19) infection at a multidisciplinary outpatient clinic. We describe the symptomatology, time course, exam, and radiographic findings in this population. Patients with COVID-19 can experience persistent symptoms, primarily respiratory in nature, which can be severe enough to warrant hospitalization.
A Multicenter Evaluation of the US Prevalence and Regional Variation in Macrolide-Resistant S. pneumoniae in Ambulatory and Hospitalized Adult Patients in the United States
Authors: Gupta Vikas , Yu Kalvin C , Schranz Jennifer , Gelone Steven P 
Published: February 2021

Abstract
Macrolide resistance was found in 39.5% of 3626 nonduplicate Streptococcus pneumoniae isolates from adult ambulatory and inpatient settings at 329 US hospitals (2018–2019). Macrolide resistance was significantly higher for respiratory vs blood isolates and ambulatory vs inpatient settings. Despite geographic variation, S. pneumoniae macrolide resistance was &gt;25% in most regions.