bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inflammatory and infectious upper respiratory diseases associate with 59 genomic loci that link to type 2 inflammation genes
Authors: Saarentaus Elmo , Karjalainen Juha , Rämö Joel , Kiiskinen Tuomo , Havulinna Aki , Mehtonen Juha , Hautakangas Heidi , Ruotsalainen Sanni , Salmi Sanna , Pirinen Matti , Kurki Mitja , Ripatti Samuli , Daly Mark , Palotie Tuula , Mäkitie Antti , Palotie Aarno 
Published: July 2021

Abstract
Inflammatory and infectious upper respiratory diseases (IURDs; ICD-10: J30-J39), such as diseases of sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyzed genome-wide association to eight IURDs (61,195 cases) among 260,405 FinnGen participants, meta-analyzing diseases in four groups based on an underlying genetic correlation structure. We aimed to understand which genetic loci contribute to susceptibility to IURDs in general and its subtypes. We detected 59 independent genome-wide significant (GWS) loci, distinguishing impact on sinonasal or pharyngeal diseases, or both. Fine-mapping implicated non-synonymous variants in 16 genes, including 10 linked to immune-related diseases. Phenome-wide analysis implicated asthma and atopic dermatitis at sinonasal disease loci and inflammatory bowel diseases, and other immune-mediated disorders at pharyngeal disease loci. IURDs also genetically correlated with autoimmune diseases such as rheumatoid arthritis, autoimmune hypothyroidism, and psoriasis. Finally, we associated separate gene pathways in sinonasal and pharyngeal diseases that both contribute to type 2 immunological reaction. We show shared heritability among IURDs that extends to several immune-mediated diseases with diverse mechanisms, such as type 2 high inflammation.
Social synchronisation of brain activity by eye-contact
Authors: Luft Caroline , Zioga Ioanna , Giannopoulos Anastasios , Bona Gabriele Di , Civilini Andrea , Latora Vito , Mareschal Isabelle 
Published: July 2021

Abstract
Humans make eye-contact to extract information about other people’s mental states, recruiting dedicated brain networks that process information about the self and others. Recent studies show that eye-contact increases the synchronization between two brains. We investigated how eye-contact affects the frequency and direction of the synchronization within and between brains and the characteristics of the dual brain network (i.e. hyperbrain). Eye-contact was associated with higher coherence in the gamma frequency band (30-45Hz) for between and within brain connections. Network analysis revealed that some brain areas served as hubs which linked within- and between- brain networks (midparietal, midfrontal and right parietal areas). Friends showed more efficient eye-contact hyperbrain networks than strangers. During eye-contact, some dyads spontaneously adopted leader/follower roles, resulting in an increase in synchronization from leader to follower (interbrain) in the alpha frequency band. Eye-contact affected directed and undirected synchronization between brains more than within brains, offering support to the interactive brain hypothesis.
Longitudinal disease-associated gut microbiome differences in infants with early food allergic manifestations
Authors: Martin Victoria , Virkud Yamini , Dahan Ehud , Seay Hannah , Vlamakis Hera , Xavier Ramnik , Shreffler Wayne , Yuan Qian , Yassour Moran 
Published: July 2021

Abstract
Complex interactions between the gut microbiome and immune cells in infancy are thought to be part of the pathogenesis for the marked rise in pediatric allergic diseases, particularly food allergies. Food protein-induced allergic proctocolitis (FPIAP) is commonly the earliest recognized non-IgE-mediated food allergy in infancy and is associated with atopic dermatitis and subsequent IgE-mediated food allergy later in childhood. Yet, a large prospective longitudinal study of the microbiome of infants with FPIAP (including samples prior to symptom onset) has not been done. Here we analyzed 954 longitudinal samples from 160 infants in a nested case-control study (81 who developed FPIAP, and 79 matched controls) from 1 week to 1 year of age by 16S rRNA ribosomal gene sequencing as part of the Gastrointestinal Microbiome and Allergic Proctocolitis (GMAP) Study. We confirmed that vaginally delivered infants had a greater abundance of Bacteroides, infants who received any breast milk had a greater abundance of Bifidobacterium, and that overall bacterial richness rose over the first year. We found key differences in the microbiome of infants with FPIAP, most strongly a higher abundance of a genus of Enterobacteriaceae and a lower abundance of a family of Clostridiales during the symptomatic period, as well as other key taxonomic differences across symptom states including prior to symptom onset. This study contributes to the larger body of literature examining structural development of the early life gut microbiome and provides a foundation for more mechanistic investigation into the pathogenesis and microbial effects on FPIAP and subsequent food allergic diseases in childhood.
Identification of Downstream Effectors of Retinoic Acid Specifying the Zebrafish Pancreas by Integrative Genomics.
Authors: López-Pérez Ana R. , Balwierz Piotr J. , Lenhard Boris , Muller Ferenc , Wardle Fiona C. , Manfroid Isabelle , Voz Marianne L. , Peers Bernard 
Published: July 2021

Abstract
Retinoic acid (RA) is a key signal for the specification of the pancreas. Still, the gene regulatory cascade triggered by RA in the endoderm remains poorly characterized. In this study, we investigated this regulatory network in zebrafish by combining RNA-seq, RAR ChIP-seq and ATAC-seq assays. By analysing the effect of RA and of the RA receptor (RAR) antagonist BMS439 on the transcriptome and on the chromatin accessibility of endodermal cells, we identified a large set of genes and regulatory regions regulated by RA signalling. RAR ChIP-seq further defined the direct RAR target genes in zebrafish, including hox genes as well as several pancreatic regulators like mnx1, insm1b, hnf1ba and gata6. Comparison of zebrafish and murine RAR ChIP-seq data highlighted the conserved direct target genes and revealed that some RAR sites are under strong evolutionary constraints. Among them, a novel highly conserved RAR-induced enhancer was identified downstream of the HoxB locus and driving expression in the nervous system and in the gut in a RA-dependant manner. Finally, ATAC-seq data unveiled the role of the RAR-direct targets Hnf1ba and Gata6 in opening chromatin at many regulatory loci upon RA treatment.
Delays In the Surgical Pathway In Breast Cancer Patients In Tunisia: A Descriptive Prospective Study
Authors: MERIAM KAHLAOUI , manel limam , jihene sahli , hedi KHAIRI , ALI MTIRAOUI , THouraya AJMI 
Published: July 2021

Abstract
Objectives Describe the surgical pathway and identify the different waiting times to surgery of women with a breast cancer in the Gynecology Department of the University Hospital of Sousse in Tunisia.Methods:It is a descriptive prospective study based on an assessment of professional practices using the process approach method. The study focused on the surgical management of women with breast cancer followed and scheduled for surgical management.The data were collected using a data collection sheet, developed according to a literature review.Results:The sample consisted of 77 women. Ten waiting times have been calculated. Global time to first treatment (surgical treatment) was 78.5 days with an interquartile range (IIQ) of [55.5-113.25 days]. The information period was 10 days with an IIQ of [3-19 days]. The global time of access to surgery was 43.5 days with an IIQ of [40-54.75].Conclusion:Delays in access to care appear to be a potential marker of inequalities in access to care and an indicator of the performance of the health care system and can influence patient prognosis. The reduction of these delays must be integrated into a continuous quality improvement approach.
A Mitochondria-Cluster At The Proximal Axon Initial Segment Controls Axodendritic TAU Trafficking In Rodent Primary And Human iPSCderived Neurons
Authors: Tjiang Noah , Zempel Hans 
Published: July 2021

Abstract
Loss of neuronal polarity and missorting of the axonal microtubule-associated protein TAU are hallmarks of Alzheimer’s disease (AD) and related tauopathies. Impairment of mitochondrial function is causative for various neurogenetic mitochondriopathies, but the role of mitochondria in tauopathies and in axonal TAU-sorting is still unclear. The axon initial segment (AIS) is vital for maintaining neuronal polarity and proper sorting of TAU.

Here, we aimed to investigate the role of mitochondria in the AIS regarding the maintenance of TAU polarity. Using global mitochondria impairment, but also live-cell-imaging and photoactivation methods, we specifically tracked and selectively impaired mitochondria in the AIS in primary mouse and human iPSC-derived neurons, and measured the subsequent missorting of TAU.

We observed that global application of mitochondrial toxins efficiently induced tauopathy-like missorting, indicating involvement of mitochondria in TAU polarity. Mitochondria show a biased distribution within the AIS, with a proximal cluster and relative absence in the central AIS. The mitochondria of this cluster are largely immobile and only sparsely participate in axonal mitochondria-trafficking. Locally constricted impairment of only the AIS-mitochondria-cluster leads to detectable increases of somatic TAU, reminiscent of AD-like TAU-missorting.

Here, we provide first evidence that the mitochondrial distribution within the proximal axon is biased towards the proximal AIS and that proper function of this newly described mitochondrial cluster may be essential for the maintenance of TAU neuronal polarity. This strengthens the role of mitochondrial impairment as an upstream event and therapeutic target in the pathological cascade leading to TAU missorting and consequent neuronal dysfunction.
Comparison between Various DNA Sterilization Procedures Applied in Forensic Analysis
Authors: Snan Nora Al , Alraimi Najib 
Published: July 2021

Abstract
Background: The advanced sensitive STR kits applied in forensic DNA typing techniques can cause challenging issues when evidence samples are contaminated with minute quantities of DNA from another source such as forensic analysts or crime scene examiners. Methods and Results: In this study, laboratory air and surfaces, gloves, tools, and equipment were evaluated as potential sources of contaminating DNA. Different sterilization methods were tested for their ability to efficiently eliminate DNA in a sample. Inactivation methods included 10% bleach, ethanol, UV light and DNA-ExitusPlus IF. Exposure to the different inactivation protocols for varying periods of time was performed in two lab settings: low template DNA and DNA database labs. Surfaces were swabbed and any adhering DNA was quantified using HID real-time PCR. Results were detected using HID Real-Time PCR Analysis Software v1.2 and GeneMapper ID-X Software v1.4. Conclusions: It was concluded that most of the DNA decontamination methods are not suitable for highly sensitive and precision STR kits such as GlobalFiler PCR Amplification Kit. The most suitable tested method was using DNA-ExitusPlus IF with the incubation time increased from 10 to 15 minutes
Comparative LCA of Automotive Gear Hobbing Processes with Flood Lubrication and MQL
Authors: Soares Luiz Arthur Paluch , Firmino Alessandro Silveira , de Oliveira José Augusto , Silva Diogo Aparecido Lopes , Saavedra Yovana María Barrera , Moris Virgínia Aparecida da Silva 
Published: July 2021

Abstract
The Life Cycle Inventory (LCI) data of a gear hobbing was obtained by means of the methodology Unit Process Life Cycle Inventory (UPLCI), in order to conduct a comparative Life Cycle Assessment (LCA) between hobbing assisted by Flood Lubrication (FL) and Minimum Quantity Lubrication (MQL). The results of the LCIA pointed out 4 among 11 normalized environmental impact categories totalized more than 80% of the accumulated impacts: fossil depletion (43%), climate changes (19%), terrestrial acidification (11%) and freshwater consumption (8%). The identified hotspot in the case study was the input flow of raw material for the system “Hobbing Machine”, which was linked to more than 75% of the total amount of normalized potential environmental impacts. Once, changes on raw material depends on the gear design, the research focused on the environmental aspects of energy and cutting fluid consumption, which depends directly on the hobbing process parameters. The introduction of MQL provided reduction of 70.77% on the total amount of normalized potential environmental impacts, while the strategies to reduce electric energy consumption by the machine tool accounted only for 3.74%. The consumption of energy and cutting fluids are the main environmental aspects of the gear hobbing process itself, since they are directly associated to the majority of potential environmental impacts derived from that machining operation. Nevertheless, when raw material flow is taken into account in the LCA, it turns into the process hotspot, due to high energy demanded in the steel-making process, forging and turning operations to shape the semi-finished gear.
Absent thermal equilibration on fractional quantum Hall edges over macroscopic scale
Authors: Melcer Ron , Dutta Bivas , Spånslätt Christian , Park Jinhong , Mirlin Alexander , Umansky Vladimir 
Published: July 2021

Abstract
Two-dimensional topological insulators, and in particular quantum Hall states, are characterized by an insulating bulk and a conducting edge. Fractional states may host both downstream (dictated by the magnetic field) and upstream propagating edge modes, which leads to complex transport behavior. Here, we combine two measurement techniques, local noise thermometry and thermal conductance, to study thermal properties of states with counter-propagating edge modes. We find that, while charge equilibration between counter-propagating edge modes is very fast, the equilibration of heat is extremely inefficient, leading to an almost ballistic heat transport over macroscopic distances. Moreover, we observe an emergent quantization of the heat conductance associated with a strong interaction fixed point of the edge modes. This new understanding of the thermal equilibration on edges with counter-propagating modes is a natural route towards extracting the topological order of the exotic 5/2 state.
Patient’s Rights: Assessment of Knowledge and Practices of Physicians at Benha University Hospitals
Authors: Shoulah Abed-Rahim , Al-Hady Rabaa Abed , EL-Desouky Rasha , Araby Eman , Khedr Enjy E. 
Published: July 2021

Abstract
Background: Patients' rights (PRs) mean a set of rights that an individual has in the healthcare organizations that ensure that they receive ethical treatment and high quality of care. PRs became an important topic in healthcare practices worldwide and essential for providing high quality care. Aim: This study looked for assessment of knowledge and practices of physicians working in the authors’ Benha University Hospitals, about PRs. Method: A cross-sectional study was conducted using structured questionnaire included 20 questions concerning PRs. Study participants were 230 physicians & 300 patients. Results: 97.0% of the physicians achieved satisfactory score regarding knowledge about PRs ,but only 14.7% of them showed satisfactory score of practices (from patients’ point of view). There is statistically significant difference between score of knowledge and practices of PRs (p<0.001). The score of knowledge was affected by physicians’ age, gender, highest qualification, work position, work experience and average number of working hours, while patients’ opinion in physicians’ practices of PRs was affected by patients’ gender, educational level and department of admission. Patients’ residence & their length of hospital stay (LOS) did not significantly influenced their opinion. Conclusion: There was discrepancy between knowledge and practices of PRs.
Hospital-Based Polysomnography May Overestimate Obstructive Sleep Apnoea Severity: Comparison of Hospital-Based and Home-Based Measurements with a Single-Lead Electrocardiogram Patch
Authors: Liu Wen-Te , Lin Shang-Yang , Tsai Cheng-Yu , Liu Yi-Shin , Lin Chia-Mo , Lee Kang-Yun , Wu Dean , Kuan Yi-Chun , Lee Hsin-Chien , Wu Cheng-Jung , Cheng Wun-Hao , Hsu Ying-Shuo 
Published: July 2021

Abstract
Purpose: Obstructive sleep apnoea (OSA) is a global health concern, and polysomnography (PSG) is the gold standard for assessing OSA severity. However, the sleep parameters of home-based and in-laboratory PSG vary because of environmental factors, and the magnitude of these discrepancies remains unclear.Methods: We enrolled 125 Taiwanese patients who underwent PSG while wearing a single-lead electrocardiogram patch (RootiRx). After the PSG, all participants were instructed to continue wearing the RootiRx over the 3 subsequent nights. Scores on OSA indexes, namely the apnoea–hypopnea index, chest effort index (CEI), cyclic variation of heart rate index (CVHRI), and combined CVHRI and CEI (Rx index), were determined. The patients were divided into 3 groups based on PSG-determined OSA severity. The variables (various severity groups and environmental measurements) were subjected to mean comparisons and their correlations were examined by Pearson’s correlation coefficient. Results: The hospital-based CVHRI, CEI, and Rx index differed significantly among the severity groups. All 3 groups exhibited a significantly lower percentage of supine sleep time in the home-based assessment relative to in the hospital-based assessment. Significant positive correlations were noted between the variations in the supine percentage (∆Supine%) and the OSA indexes. For the patients with high sleep efficiency (≥ 80%), significant correlations were observed between the ∆Supine% and ∆Rx index.Conclusion: The high supine percentage of sleep may cause OSA indexes’ overestimation in hospital-based PSG. Sleep recording at home with patch-type wearable devices may aid accurate OSA diagnosis.
Effectiveness of the BNT162b2 mRNA COVID-19 Vaccine in Pregnancy
Authors: Balicer Ran , Dagan Noa , Barda Noam , Biron-Shental Tal , Makov-Assif Maya , Key Calanit , Kohane Isaac , Hernan Miguel , Lipsitch Marc , Hernandez-Diaz Sonia , Reis Ben 
Published: July 2021

Abstract
Background: As mass vaccination campaigns against COVID-19 accelerate worldwide, there remains only limited evidence regarding vaccine effectiveness (VE) among pregnant women. Pregnant women have been shown to be at risk for severe COVID-19, resulting in adverse obstetrics outcomes, and their immune system is known to undergo alterations during pregnancy. Phase III clinical trials of the approved mRNA COVID-19 vaccines excluded pregnant women, yet current guidelines encourage offering the vaccine to pregnant women. In this study, we examine data from Israel’s largest healthcare organization to evaluate the effectiveness of the BNT162b2 mRNA vaccine among pregnant women. Methods: We conducted an observational cohort study of pregnant women 16 years or older, with no history of SARS-CoV-2, who were vaccinated between December 20, 2020 and June 3, 2021. Vaccinated subjects were matched to unvaccinated controls according to a set of demographic and clinical characteristics. Study outcomes included documented infection with SARS-CoV-2, symptomatic COVID-19, COVID-19-related hospitalization, severe illness and death. For each outcome, VE was estimated at several periods following vaccination as one minus the risk ratio using the Kaplan–Meier estimator. Results: 10,861 vaccinated women were matched to an identical number of unvaccinated controls. Estimated VE from 7 through 28 days after the second dose was 97% (95% CI 91%-100%) for any documented infection, 96% (86-100%) for infections with documented symptoms, and 85% (32%-100%) for COVID-19-related hospitalization. Only one event of severe illness was observed in the unvaccinated group, and no deaths were observed in either group -- insufficient incidence for estimating VE for these outcomes. Discussion: The BNT162b2 mRNA vaccine was found to have high VE among pregnant women. Since high VE has been reported as one of the strongest predictors of COVID-19 vaccine acceptance among pregnant women, the high VE estimates found in this study have the potential to increase vaccine acceptance in this group. In addition, the present VE estimates are similar to those reported in the general population for the same variants, suggesting that it may be possible to infer the VE for pregnant women from studies in the general population for both current and future variants.
Identification of Efficient Energy Source among Solar, Biomass and Battery for Electric Vehicle Charging using Novel Optimal Firefly Algorithm
Authors: Kumar Nishant , Namrata Kumari 
Published: July 2021

Abstract
Background: The EV (Electric Vehicles) is rapidly growing as a substitute to oil dependant vehicles to minimize the pollutant and greenhouse gas (GHS) emissions. Various charging schemes and grid integration techniques are introduced to minimize the impacts of EV charging. Hence, this study introduced a system that uses renewable energy sources (RES) like solar energy, biomass and battery for EV charging.Objective: This study intended to calculate the cost of the system design as well as variations in its cost during the usage on an annual basis. In addition, it used various energy conversion technologies such as solar panel, battery and biomass to find the effective source of energy for EV charging through the proposed novel Optimal Firefly Algorithm (OFA). Methodology: An initial setup is made that consists of number of buildings, overall load demand, ratings of EV charging, storage capacity, grid intake and solar panel. Then, the proposed novel OFA is used to find the count of EVs that gets charged from the charging stations and its choice of charging from the charging stations. The computation is performed on an annual basis for the cost, energy and count of EVs that arrive to the charging stations to get it charged. Results: The proposed methodology is used to compare the efficiency of the solar, biomass and battery efficiency in charging an EV through computation of Net present cost, Cost of Energy, EV savings and power generation. The results revealed that that the proposed system is effective than the traditional methods and effectively identified that the solar energy is the effective source for EV charging.