bluuebunny/crossref_metadata_2025_split huggingface dataset:
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.
Authors: Gálvez Raquel López , Morena-Barrio María Eugenia de la , López-Lera Alberto , Pathak Monika , Miñano Antonia , Serrano Mercedes , Borgel Delphine , Roldán Vanessa , Vicente Vicente , Emsley Jonas , Corral Javier 
Published: September 2020

Abstract
Background . Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of the contact phase, has an emerging role in hemostasia and inflammation. FXII deficiency protects against thrombosis and the p.Thr309Lys variant is involved in hereditary angioedema through the hyperreactivity caused by the associated defective O-glycosylation. We studied FXII in CDG aiming to supply further information of the glycosylation of this molecule, and its functional and clinical effects. Plasma FXII from 46 PMM2-CDG patients was evaluated by coagulometric and by Western Blot in basal conditions, treated with N-glycosydase F or activated by silica or dextran sulfate. A recombinant FXII expression model was used to validate the secretion and glycosylation of wild-type and variants targeting the two described FXII N-glycosylation sites (p.Asn230Lys; p.Asn414Lys) as well as the p.Thr309Lys variant.
Results. PMM2-CDG patients had normal FXII levels (117%) but high proportions of a form lacking N-glycosylation at Asn414. Recombinant FXII p.Asn230Lys, and p.Asn230Lys&p.Asn414Lys had impaired secretion and increased intracellular retention compared to wild-type, p.Thr309Lys and p.Asn414Lys variants. The hypoglycosylated form of PMM2-CDG activated similarly than FXII fully glycosylated. Accordingly, no PMM2-CDG had angioedema. FXII levels did not associate to vascular events, but hypoglycosylated FXII, like hypoglycosylated transferrin, antithrombin and FXI levels did it.
Conclusions. N-glycosylation at Asn230 is essential for FXII secretion. PMM2-CDG have high levels of FXII lacking N-glycosylation at Asn414, but this glycoform displays similar activation than fully glycosylated, explaining the absence of angioedema in CDG.
TMPRSS2, a SARS-CoV-2 internalization protease is downregulated in head and neck cancer patients.
Authors: Sacconi Andrea , Donzelli Sara , Pulito Claudio , Ferrero Stefano , Spinella Francesca , Morrone Aldo , Rigoni Marta , Pimpinelli Fulvia , Ensoli Fabrizio , Sanguineti Giuseppe , Pellini Raul , Agrawal Nishant , Izumchenko Evgeny , Ciliberto Gennaro , Giannì Aldo , Muti Paola , Strano Sabrina , Blandino Giovanni 
Published: September 2020

Abstract
Background: SARS-coronavirus-2 enters host cells through binding of the Spike protein to ACE2 receptor and subsequent S priming by the TMPRSS2 protease. We aim to assess differences in both ACE2 and TMPRSS2 expression in normal tissues from oral cavity, pharynx, larynx and lung tissues as well as neoplastic tissues from the same areas.Methods: The study has been conducted using the TCGA and the Regina Elena Institute databases and validated by experimental model in HNSCC cells. We also included data from one COVID19 patient who went under surgery for HNSCC.Results: TMPRSS2 expression in HNSCC was significantly reduced compared to the normal tissues. It was more evident in women than in men, in TP53 mutated versus wild TP53 tumors, in HPV negative patients compared to HPV positive counterparts. Functionally, we modeled the multivariate effect of TP53, HPV, and other inherent variables on TMPRSS2. All variables had a statistically significant independent effect on TMPRSS2. In particular, in tumor tissues, HPV negative, TP53 mutated status and elevated TP53-dependent Myc-target genes were associated with low TMPRSS2 expression. The further analysis of both TCGA and our institutional HNSCC datasets identified a signature anti-correlated to TMPRSS2. As proof-of-principle we also validated the anti-correlation between microRNAs and TMPRSS2 expression in a SARS-CoV-2 positive HNSCC patient tissues Finally, we did not find TMPRSS2 promoter methylation.Conclusions: Collectively, these findings suggest that tumoral tissues, herein exemplified by HNSCC and lung cancers might be more resistant to SARS-CoV-2 infection due to reduced expression of TMPRSS2. These observations may help to better assess the frailty of SARS-CoV-2 positive cancer patients.
Genetic selection for growth drives differences in intestinal microbiota composition and parasite disease resistance in gilthead sea bream
Authors: Piazzon M. Carla , Naya-Català Fernando , Perera Erick , Palenzuela Oswaldo , Sitjà-Bobadilla Ariadna , Pérez-Sánchez Jaume 
Published: September 2020

Abstract
Background: The key effects of intestinal microbiota in animal health has led to an increasing interest in manipulating these bacterial populations to improve animal welfare. The aquaculture sector is no exception and in the last years many studies have described these populations in different fish species. However, this is not an easy task, as intestinal microbiota is composed of very dynamic populations that are influenced by different factors, such as diet, environment, host age and genetics. In the current study, we aimed to determine whether the genetic background of gilthead sea bream (Sparus aurata) influences the intestinal microbial composition, how these bacterial populations are modulated by dietary changes, and the effect of selection by growth on intestinal disease resistance. To that aim, three different groups of five families of gilthead sea bream that were selected during two generations for fast, intermediate or slow growth (F3 generation) were kept together in the same open-flow tanks and fed a control or a well-balanced plant-based diet during nine months. Six animals per family and dietary treatment were sacrificed and the adherent bacteria from the anterior intestinal portion were sequenced. In parallel, fish of the fast- and slow-growth groups were infected with the intestinal parasite Enteromyxum leei and the disease signs, prevalence, intensity and parasite abundance were evaluated. Results: No differences were detected in alpha diversity indexes among families, and the core bacterial architecture was the prototypical composition of gilthead sea bream intestinal microbiota, indicating no dysbiosis in any of the groups. The plant-based diet significantly changed the microbiota in the intermediate- and slow-growth families, with a much lower effect on the fast-growth group. Interestingly, the smaller changes detected in the fast-growth families potentially accounted for more changes at the metabolic level when compared to the other families. Upon parasitic infection, the fast-growth group showed significantly lower disease signs and parasite intensity and abundance than the slow-growth animals. Conclusions: These results show a clear genome-metagenome interaction indicating that the fast-growth families harbor a microbiota that is more flexible upon dietary changes. These animals also showed a better ability to cope with intestinal infections.
Chordoid Glioma of the Third Ventricular with Rare Patterns and Mutation in PRKCA: a case report and review of literature
Authors: ma xiaomei , zhu zhi , wang yin , li weiqing 
Published: September 2020

Abstract
Background: Chordoid gliomas are rare, low-grade neoplasms of the third ventricle. In the updated 4th edition of the 2016 WHO classification of tumours of the CNS, it described some three less common histological patterns and rare tissue patterns. Case presentation:Here we reported a case with all the uncommon patterns. It was a 52-year-old woman with dizziness and blurred vision. Imaging showed a solid tumor located in the third ventricle with a well-circumscribed border. Histological, almost tumor cells formed into atypical glands with different sizes and irregular shapes in an abundant of solid or loosely collagen matrix. Some tumor cells formed into papillary patterns, micro-papillary patterns. pseudoglandular patterns. Some focal tumor cells were spindle-shape. Only few epithelioid tumor cells formed into clusters and cords embedded into a myxoid stroma like the chordoma. No anaplastic features were identified in any lesion. Immunohistochemically, all the tumor cells were strong reactivity for TTF-1. Some tumor cells strong but focal reactivity for GFAP, NEU-N, and CD34. It showed a recurrent D463H missense mutation in PRKCA. All these findings confirm that the diagnosis was chordoid glioma of the third ventricular. Conclusions: There may be lots of histopathological features in one chordoid glioma case. It maybe suggested that PRKCA D463H mutation and TTF-1 positive may help to diagnose it.
E-Cigarette Promotion on Twitter in Australia: Content Analysis of Tweets
Authors: McCausland Kahlia , Maycock Bruce , Leaver Tama , Wolf Katharina , Freeman Becky , Thomson Katie , Jancey Jonine 
Published: September 2020

BackgroundThe sale of electronic cigarettes (e-cigarettes) containing nicotine is prohibited in all Australian states and territories; yet, the growing availability and convenience of the internet enable the promotion and exposure of e-cigarettes across countries. Social media’s increasing pervasiveness has provided a powerful avenue to market products and influence social norms and risk behaviors. At present, there is no evidence of how e-cigarettes and vaping are promoted on social media in Australia.ObjectiveThis study aimed to investigate how e-cigarettes are portrayed and promoted on Twitter through a content analysis of vaping-related tweets containing an image posted and retweeted by Australian users and how the portrayal and promotion have emerged and trended over time.MethodsIn total, we analyzed 1303 tweets and accompanying images from 2012, 2014, 2016, and 2018 collected through the Tracking Infrastructure for Social Media Analysis (TrISMA), a contemporary technical and organizational infrastructure for the tracking of public communication by Australian users of social media, via a list of 15 popular e-cigarette–related terms.ResultsDespite Australia’s cautious approach toward e-cigarettes and the limited evidence supporting them as an efficacious smoking cessation aid, it is evident that there is a concerted effort by some Twitter users to promote these devices as a health-conducive (91/129, 70.5%), smoking cessation product (266/1303, 20.41%). Further, Twitter is being used in an attempt to circumvent Australian regulation and advocate for a more liberal approach to personal vaporizers (90/1303, 6.90%). A sizeable proportion of posts was dedicated to selling or promoting vape products (347/1303, 26.63%), and 19.95% (260/1303) were found to be business listings. These posts used methods to try and expand their clientele further than immediate followers by touting competitions and giveaways, with those wanting to enter having to perform a sequence of steps such as liking, tagging, and reposting, ultimately exposing the post among the user’s network and to others not necessarily interested in vaping.ConclusionsThe borderless nature of social media presents a clear challenge for enforcing Article 13 of the World Health Organization Framework Convention on Tobacco Control, which requires all ratifying nations to implement a ban on tobacco advertising, promotion, and sponsorship. Countering the advertising and promotion of these products is a public health challenge that will require cross-border cooperation with other World Health Organization Framework Convention on Tobacco Control parties. Further research aimed at developing strategies to counter the advertising and promotion of e-cigarettes is therefore needed.
E-Cigarette Advocates on Twitter: Content Analysis of Vaping-Related Tweets
Authors: McCausland Kahlia , Maycock Bruce , Leaver Tama , Wolf Katharina , Freeman Becky , Jancey Jonine 
Published: September 2020

BackgroundAs the majority of Twitter content is publicly available, the platform has become a rich data source for public health surveillance, providing insights into emergent phenomena, such as vaping. Although there is a growing body of literature that has examined the content of vaping-related tweets, less is known about the people who generate and disseminate these messages and the role of e-cigarette advocates in the promotion of these devices.ObjectiveThis study aimed to identify key conversation trends and patterns over time, and discern the core voices, message frames, and sentiment surrounding e-cigarette discussions on Twitter.MethodsA random sample of data were collected from Australian Twitter users who referenced at least one of 15 identified e-cigarette related keywords during 2012, 2014, 2016, or 2018. Data collection was facilitated by TrISMA (Tracking Infrastructure for Social Media Analysis) and analyzed by content analysis.ResultsA sample of 4432 vaping-related tweets posted and retweeted by Australian users was analyzed. Positive sentiment (3754/4432, 84.70%) dominated the discourse surrounding e-cigarettes, and vape retailers and manufacturers (1161/4432, 26.20%), the general public (1079/4432, 24.35%), and e-cigarette advocates (1038/4432, 23.42%) were the most prominent posters. Several tactics were used by e-cigarette advocates to communicate their beliefs, including attempts to frame e-cigarettes as safer than traditional cigarettes, imply that federal government agencies lack sufficient competence or evidence for the policies they endorse about vaping, and denounce as propaganda “gateway” claims of youth progressing from e-cigarettes to combustible tobacco. Some of the most common themes presented in tweets were advertising or promoting e-cigarette products (2040/4432, 46.03%), promoting e-cigarette use or intent to use (970/4432, 21.89%), and discussing the potential of e-cigarettes to be used as a smoking cessation aid or tobacco alternative (716/4432, 16.16%), as well as the perceived health and safety benefits and consequences of e-cigarette use (681/4432, 15.37%).ConclusionsAustralian Twitter content does not reflect the country’s current regulatory approach to e-cigarettes. Rather, the conversation on Twitter generally encourages e-cigarette use, promotes vaping as a socially acceptable practice, discredits scientific evidence of health risks, and rallies around the idea that e-cigarettes should largely be outside the bounds of health policy. The one-sided nature of the discussion is concerning, as is the lack of disclosure and transparency, especially among vaping enthusiasts who dominate the majority of e-cigarette discussions on Twitter, where it is unclear if comments are endorsed, sanctioned, or even supported by the industry.
The Effect of Smartphone App–Based Interventions for Patients With Hypertension: Systematic Review and Meta-Analysis
Authors: Xu Hongxuan , Long Huanyu 
Published: September 2020

Background
Hypertension is a major cause of cardiovascular disease, which is the leading cause of premature death. People with hypertension who do not comply with recommended treatment strategies have a higher risk of heart attacks and strokes, leading to hospitalization and consequently greater health care costs. The smartphone, which is now ubiquitous, offers a convenient tool to aid in the treatment of hypertension through the use of apps targeting lifestyle management, and such app-based interventions have shown promising results. In particular, recent evidence has shown the feasibility, acceptability, and success of digital interventions in changing the behavior of people with chronic conditions.

Objective
The aim of this study was to systematically compile available evidence to determine the overall effect of smartphone apps on blood pressure control, medication adherence, and lifestyle changes for people with hypertension.

Methods
This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement guidelines. Databases were searched to identify randomized controlled trials related to the influence of an app-based intervention in people with hypertension. Data extracted from the included studies were subjected to a meta-analysis to compare the effects of the smartphone app intervention to a control.

Results
Eight studies with a total of 1657 participants fulfilled the inclusion criteria. Pooled analysis of 6 studies assessing systolic blood pressure showed a significant overall effect in favor of the smartphone intervention (weighted mean difference –2.28, 95% CI –3.90-0.66). Pooled analysis of studies assessing medication adherence demonstrated a significant effect (P<.001) in favor of the intervention group (standard mean difference 0.38, 95% CI 0.26-0.50) with low heterogeneity (I2=0%). No difference between groups was demonstrated with respect to physical activity.

Conclusions
A smartphone intervention leads to a reduction in blood pressure and an increase in medication adherence for people with hypertension. Future research should focus on the effect of behavior coaching apps on medication adherence, lifestyle change, and blood pressure reduction.
Deep Learning With Electronic Health Records for Short-Term Fracture Risk Identification: Crystal Bone Algorithm Development and Validation
Authors: Almog Yasmeen Adar , Rai Angshu , Zhang Patrick , Moulaison Amanda , Powell Ross , Mishra Anirban , Weinberg Kerry , Hamilton Celeste , Oates Mary , McCloskey Eugene , Cummings Steven R 
Published: September 2020

Background
Fractures as a result of osteoporosis and low bone mass are common and give rise to significant clinical, personal, and economic burden. Even after a fracture occurs, high fracture risk remains widely underdiagnosed and undertreated. Common fracture risk assessment tools utilize a subset of clinical risk factors for prediction, and often require manual data entry. Furthermore, these tools predict risk over the long term and do not explicitly provide short-term risk estimates necessary to identify patients likely to experience a fracture in the next 1-2 years.

Objective
The goal of this study was to develop and evaluate an algorithm for the identification of patients at risk of fracture in a subsequent 1- to 2-year period. In order to address the aforementioned limitations of current prediction tools, this approach focused on a short-term timeframe, automated data entry, and the use of longitudinal data to inform the predictions.

Methods
Using retrospective electronic health record data from over 1,000,000 patients, we developed Crystal Bone, an algorithm that applies machine learning techniques from natural language processing to the temporal nature of patient histories to generate short-term fracture risk predictions. Similar to how language models predict the next word in a given sentence or the topic of a document, Crystal Bone predicts whether a patient’s future trajectory might contain a fracture event, or whether the signature of the patient’s journey is similar to that of a typical future fracture patient. A holdout set with 192,590 patients was used to validate accuracy. Experimental baseline models and human-level performance were used for comparison.

Results
The model accurately predicted 1- to 2-year fracture risk for patients aged over 50 years (area under the receiver operating characteristics curve [AUROC] 0.81). These algorithms outperformed the experimental baselines (AUROC 0.67) and showed meaningful improvements when compared to retrospective approximation of human-level performance by correctly identifying 9649 of 13,765 (70%) at-risk patients who did not receive any preventative bone-health-related medical interventions from their physicians.

Conclusions
These findings indicate that it is possible to use a patient’s unique medical history as it changes over time to predict the risk of short-term fracture. Validating and applying such a tool within the health care system could enable automated and widespread prediction of this risk and may help with identification of patients at very high risk of fracture.
FABRICATION OF DRUG DELIVERY SYSTEM FOR CONTROLLED RELEASE OF CURCUMIN, INTERCALATED WITH MAGNETITE NANOPARTICLES THROUGH SODIUM ALGINATE/POLYVINYLPYRROLIDONE-CO-VINYL ACETATE SEMI IPN MICROBEADS
Authors: JITHENDRA T. , REDDY O. SREEKANTH , SUBHA M. C. S. , RAO K. CHOWDOJI 
Published: September 2020

Objective: The aim of the present work is to fabricate curcumin (CUR) encapsulated microbeads in the polymer matrix of sodium alginate (SA)/poly(vinylpyrrolidone)-co-vinyl acetate (PVP-co-VAc) intercalated with magnetite nanoparticles (MNPs) using glutaraldehyde (GA)/calcium chloride CaCl2 as the crosslinker.
Methods: Magnetite nanoparticles (MNPs) were synthesized by a modified co-precipitation method. Curcumin encapsulated SA/PVP-co-VAc microbeads, intercalated with MNPs were prepared by simple ionotropic gelation technique. The formation of microbeads and uniform distribution of curcumin were characterized using spectroscopic methods. In addition, swelling and drug release kinetic studies of the microbeads were performed in simulated intestinal fluid (pH 7.4) and simulated gastric fluid (pH 1.2) at 37 °C.
Results: Microbeads formation was confirmed by Fourier Transform Infrared (FTIR). Differential Scanning Calorimetry (DSC) studies reveal that the peak at 181 °C of CUR was not observed in CUR loaded microbeads, which confirms that CUR was encapsulated at the molecular level in the polymer matrix. The X-Ray diffraction (X-RD) diffractograms of CUR shows 2Ө peaks between 12-28 °, which indicated the crystalline nature of CUR, these peaks are not found in CUR loaded microbeads, suggesting that the drug has been molecularly dispersed in the polymer matrix. The X-RD 2Ө peaks of MNPs are observed in the MNPs loaded microbeads, which confirms that MNPs are successfully loaded in the microbeads. The swelling studies and in vitro release studies were performed at pH 1.2 and 7.4. The results reveal that at pH 7.4 highest swelling and release was observed, which confirms that the developed microbeads are pH sensitive and are suitable for intestinal drug delivery. The drug release kinetics fit into the Korsmeyer-Peppas equation, indicating non-Fickian diffusion.
Conclusion: The results concluded that the present system as dependent on pH of the test medium and hence suggest suitability for intestinal drug delivery.
HAIR TONIC SHAMPOO FORMULATION WITH AMBON BANANA (MUSA ACUMINATA COLLA) CORM EXTRACT
Authors: INDRAWATI TETI , SIMANJUNTAK LASTIAR , PRATAMI DIAH KARTIKA 
Published: September 2020

Objective: Banana waste, especially corms, has potential as a source of haircare agents due to its active compound, anthraquinone, which is known to promote hair growth. This study aimed to assess preparations of hair tonic shampoo containing Musa acuminata Colla corm extract and evaluate their characteristics and stability.
Methods: Three shampoo formulas were prepared containing 8%, 10%, and 12% corm extract. Physical stability tests were performed at high (60±2 °C) and room temperature (25±2 °C) for three weeks. The shampoo formulas were evaluated for their organoleptic properties (colour, form, and odour), homogeneity, pH, density, viscosity, rheology, foam height and stability, and surface tension.
Results: The shampoo formulas with corm extract were white to yellowish-white, creamy, and smelled of banana, and were homogenous without precipitation. The formulas had a pH of 6.08–6.12, a density of 1.027–1.054 g/ml, foam height of 3.56–3.63 ml, the surface tension of 28.92–29.85 dyne/cm, viscosity of 16,000–120,000 cps and pseudoplastic flow properties.
Conclusion: The natural hair tonic shampoo formulas prepared with M. acuminata corm have good characteristics.