bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integration of genome‐wide association study and expression quantitative trait loci data identifies AIM2 as a risk gene of periodontitis
Authors: Li Wenjing , Zheng Qiwen , Meng Huanxin , Chen Dafang 
Published: February 2020

AbstractAimTo identify risk variants associated with gene expression in peripheral blood and to identify genes whose expression change may contribute to the susceptibility to periodontitis.Material and MethodsWe systematically integrated the genetic associations from a recent large‐scale periodontitis GWAS and blood expression quantitative trait loci (eQTL) data using Sherlock, a Bayesian statistical framework. We then validated the potential causal genes in independent gene expression data sets. Gene co‐expression analysis was used to explore the functional relationship for the identified causal genes.ResultsSherlock analysis identified 10 genes (rs7403881 for MT1L, rs12459542 for SIGLEC5, rs12459542 for SIGLEC14, rs6680386 for S100A12, rs10489524 for TRIM33, rs11962642 for HIST1H3E, rs2814770 for AIM2, rs7593959 for FASTKD2, rs10416904 for PKN1, and rs10508204 for WDR37) whose expression may influence periodontitis. Among these genes, AIM2 was consistent significantly upregulated in periodontium of periodontitis patients across four data sets. The cis‐eQTL (rs2814770, ~16 kb upstream of AIM2) showed significant association with AIM2 (p = 6.63 × 10–6) and suggestive association with periodontitis (p = 7.52 × 10–4). We also validated the significant association between rs2814770 and AIM2 expression in independent expression data set. Pathway analysis revealed that genes co‐expressed with AIM2 were significantly enriched in immune‐ and inflammation‐related pathways.ConclusionOur findings implicate that AIM2 is a susceptibility gene, expression of which in gingiva may influence periodontitis risk. Further functional investigation of AIM2 may provide new insight for periodontitis pathogenesis.
Diagnostic accuracy and interobserver concordance: teledermoscopy of 600 suspicious skin lesions in Southern Denmark
Authors: Vestergaard T. , Prasad S.C. , Schuster A. , Laurinaviciene R. , Andersen M.K. , Bygum A. 
Published: February 2020

AbstractBackgroundSkin cancer incidences are increasing and early diagnosis, especially of malignant melanoma, is crucial. Teledermatology including teledermoscopy (TDS) can be used to triage referrals of suspicious skin lesions, however, this is not currently recommended in Denmark.ObjectivesTo evaluate diagnostic accuracy, sensitivity, specificity and interobserver concordance of TDS, and to evaluate the number of incidental lesions potentially missed by TDS.MethodsFifty general practices were invited to send images of suspicious skin lesions for evaluation using smartphone TDS. Simultaneously, the patient was referred for a face‐to‐face (FTF) consultation. Images for TDS were independently evaluated by two dermatologists; a third dermatologist performed the FTF consultation. Diagnosis, management plan and level of diagnostic confidence were noted. For TDS photo quality was rated, and for FTF any incidental findings were described.ResultsSix hundred lesions in 519 patients were included. The diagnostic accuracy was significantly higher on FTF evaluation than on TDS (P < 0.01). However, this was associated with a significant difference in specificity (P ≤ 0.012) whereas no significant difference was found in sensitivity. The concordance between FTF and TDS, and the interobserver concordance of two TDS evaluations was moderate to substantial (AC1 = 0.57–0.71). Incidental melanomas were found in 0.6% of patients on FTF evaluation, adding an extra 13% of melanomas. However, on TDS these patients’ photographed lesions all warranted FTF follow‐up, where these melanomas would have been identified.ConclusionIn this large prospective study, no significant difference in sensitivity was observed between FTF and TDS, but specificity was lower on TDS than FTF. Taking management plans into account, we would, however, potentially have dismissed 2 of 23 melanomas, if only TDS had been used for assessment. One of these was a melanoma located on the scalp, an anatomic region less suitable for TDS.
Alternative evolutionary outcomes following endosymbiont‐mediated selection on male mating preference alleles
Authors: Hundertmark Antje , Goodacre Sara L. , Brookfield John F. Y. 
Published: February 2020

AbstractIn many arthropods, intracellular bacteria, such as those of the genus Wolbachia, may spread through host populations as a result of cytoplasmic incompatibility (CI). Here, there is sterility or reduced fertility in crosses between infected males and uninfected females. As the bacterium is maternally inherited, the reduced fertility of uninfected females increases the frequency of the infection. If the transmission fidelity of the bacterium is less than 100%, the bacterium cannot invade from a low frequency, but if its frequency exceeds a threshold, it increases to a high, stable, equilibrium frequency. We explore the expected evolutionary dynamics of mutant alleles that cause their male bearers to avoid mating with uninfected females. For alleles which create this avoidance behaviour conditional upon the male being infected, there is a wide zone of parameter space that allows the preference allele to drive Wolbachia from the population when it would otherwise stably persist. There is also a wide zone of parameter space that allows a joint stable equilibrium for the Wolbachia and a polymorphism for the preference allele. When the male's avoidance of uninfected females is unconditional, the preference allele's effect on Wolbachia frequency is reduced, but there is a narrow range of values for the transmission rate and CI fertility that allow an unconditional preference allele to drive Wolbachia from the population, in a process driven by positive linkage disequilibrium between Wolbachia and the preference allele. The possibility of the evolution of preference could hamper attempts to manipulate wild populations through Wolbachia introductions.
Astroglial biotin deprivation under endoplasmic reticulum stress uncouples BCAA‐mTORC1 role in lipid synthesis to prolong autophagy inhibition in the aging brain
Authors: Ganesan Dhasarathan , Ramaian Santhaseela Anand , Rajasekaran Sudarshana , Selvam Senthilraja , Jayavelu Tamilselvan 
Published: February 2020

AbstractAutophagy delays the onset of endoplasmic reticulum (ER) stress by recycling cellular debris. However, the cues that elicit autophagy under the emergence of ER stress and their dysregulation during aging remains obscure. Amino acids, notably branched‐chain amino acids (BCAA), get accumulated in the cells once protein synthesis is inhibited by ER stress. The BCAA mimic satiety to inhibit autophagy via mechanistic targets of rapamycin complex 1 (mTORC1) activation and, in contrast, their catabolism supplements de novo lipogenesis for the formation of autophagosome membranes. Thus promoting BCAA utilization is hypothesized to induce autophagy to alleviate ER stress. Nevertheless, except protein synthesis, the rest of BCAA utilization and lipogenesis depends on the co‐enzyme biotin. Hence, the levels of biotinylated carboxylases and lipids were assessed in the aging brain of Wistar rats. Despite the increased levels of biotinylated carboxylases and lipids, the aging brain accumulates BCAA. Since astrocytes are the primary site of BCAA and lipid metabolism and the increased expression of glial fibrillary acidic protein (GFAP) denotes astroglial ER stress, co‐localization studies were performed to determine the extent of biotinylation in GFAP positive cells. Although total biotin intensity was higher in aged brain slices, the astrocytes specific decrease in biotinylation is attributed to BCAA accumulation, mTORC1 overactivation, autophagy inhibition, and ER stress in the aging brain. The ER stress in primary astrocytes using tunicamycin also mimic the in vivo phenotype. Biotin supplementation ameliorated the changes observed in vitro, corroborating the significance of astrocytes biotin availability to promote autophagy under ER stress in aging.
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Influence of retinal NMDA receptor activity during autoimmune optic neuritis
Authors: Bojcevski Jovana , Stojic Aleksandar , Hoffmann Dorit B. , Williams Sarah K. , Müller Andreas , Diem Ricarda , Fairless Richard 
Published: February 2020

AbstractAutoimmune optic neuritis (AON), a model of multiple sclerosis‐associated optic neuritis, is accompanied by degeneration of retinal ganglion cells (RGCs) and optic nerve demyelination and axonal loss. In order to investigate the role of N‐methyl‐d‐aspartate (NMDA) receptors in mediating RGC degeneration, upstream changes in the optic nerve actin cytoskeleton and associated deterioration in visual function, we induced AON in Brown Norway rats by immunization with myelin oligodendrocyte glycoprotein. Subsequently, visual acuity was assessed by recording visual evoked potentials and electroretinograms prior to extraction of optic nerves for western blot analysis and retinas for quantification of RGCs. As previously reported, in Brown Norway rats RGC degeneration is observed prior to onset of immune cell infiltration and demyelination of the optic nerves. However, within the optic nerve, destabilization of the actin cytoskeleton could be seen as indicated by an increase in the globular to filamentous actin ratio. Interestingly, these changes could be mimicked by intravitreal injection of glutamate, and similarly blocked by application of the NMDA receptor blocker MK‐801, leading us to propose that prior to optic nerve lesion formation, NMDA receptor activation within the retina leads to retinal calcium accumulation, actin destabilization within the optic nerve as well as a deterioration of visual acuity during AON.
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Establishing the Omics Nursing Science & Education Network
Authors: Tully Lois A. , Calzone Kathleen A. , Cashion Ann K. 
Published: February 2020

AbstractPurposeTo establish a website to advance nursing research and education involving omics technologies and methodologies through facilitating collaborations, use of existing data and samples, mentoring, and access to training opportunities.MethodsThe Omics Nursing Science & Education Network (ONSEN) website was established following identification of gaps in omics nursing infrastructure and resources that could be addressed via a concerted, collaborative effort. ONSEN content was created using input from a workgroup of experts in genomics and other omics, education, practice, and nursing research. Alpha testing was conducted with workgroup members, followed by website refinements and enhancements, and subsequent beta testing by potential end users. ONSEN was launched in August 2018.FindingsONSEN has three main sections. The Education and Training section provides information on mentoring and pre‐ or postdoctoral opportunities in addition to a knowledge matrix to advance education and skills in genomic nursing science. The Research Collaborations section promotes awareness of ongoing omics nursing research in order to foster collaborations and sharing of samples or data among investigators with programs in omics nursing research or an interest in developing such programs. The Common Data Elements (CDE) section provides information on the benefits of incorporating CDEs into nursing science as well as links to National Institutes of Health resources to facilitate use of CDEs.ConclusionsONSEN provides opportunities for nurse scientists and trainees to leverage samples and datasets, locate mentors and pre‐ or postdoctoral positions, further the use of CDEs, and enhance education and skills for integrating omics into nursing science.Clinical RelevanceAdvancing omics nursing science via ONSEN resources will accelerate the elucidation of the molecular underpinnings of disease and associated symptoms as well as inform the development of rapidly translatable, personalized intervention strategies, grounded in biological mechanisms, for improved health outcomes across populations and the lifespan.
Granuloma annulare after Botulonium toxin A injection: A rare association
Authors: Balighi Kamran , Kamyab Kambiz , Azizpour Arghavan 
Published: February 2020

AbstractBackgroundBotulinum toxin is generally considered safe and has been used in constantly expanded cosmetic and therapeutic indications. However, long‐term side effects such as granulomatous reactions have been associated with this drug.AimsWe aim to evaluate a rare reaction to Botulonium toxin A injection.Patients/MethodsA 44‐year‐old woman, developed annular plaques eleven months after botulinum toxin A injection for the correction treatment of wrinklesglabellar rhytides.ResultsHistopathological examination revealed granuloma annulare formation. Clinical and biological investigations were negative, ruling out the hypothesis of systemic sarcoidosis. Triamcinolone acetonide injection was followed by a regression of the plaques.ConclusionThere are previous reports in the literature of sarcoidal and foreign body granuloma at the sites of injection of botulinum toxin A injection. To our knowledge this is the first report of granuloma annulare occurrence after botulinum toxin A injection.
Differences in ultrasound‐derived arterial wall stiffness parameters and noninvasive blood pressure between Friesian horses and Warmblood horses
Authors: Vera Lisse , De Clercq Dominique , Van Steenkiste Glenn , Decloedt Annelies , Chiers Koen , van Loon Gunther 
Published: February 2020

AbstractBackgroundAortic rupture is more common in Friesians compared to Warmbloods, which might be related to differences in arterial wall composition and, as such, arterial wall stiffness (AWS). Currently, nothing is known about differences in AWS between these breeds.ObjectivesComparison of AWS parameters and noninvasive blood pressure between Friesians and Warmbloods.AnimalsOne hundred one healthy Friesians and 101 age‐matched healthy Warmbloods.MethodsTwo‐dimensional and pulsed‐wave Doppler ultrasound examination was performed of the aorta, common carotid artery, and external iliac artery to define local and regional AWS parameters. Regional aortic AWS was estimated using aortic‐to‐external iliac artery pulse wave velocity (PWVa‐e) and carotid‐to‐external iliac artery pulse wave velocity (PWVc‐e). Noninvasive blood pressure and heart rate were recorded simultaneously.ResultsSystolic, diastolic, and mean arterial blood pressure and pulse pressure were significantly higher in Friesians compared to Warmbloods. No significant difference in heart rate was found. Most local AWS parameters (diameter change, compliance coefficient, distensibility coefficient) were significantly lower in Friesians compared to Warmbloods, indicating a stiffer aorta in Friesians. This difference could be confirmed by the regional stiffness parameters. A higher PWVa‐e and PWVc‐e was found in Friesians. For the cranial and caudal common carotid artery and external iliac artery, most local AWS parameters were not significantly different.Conclusions and clinical importanceResults indicate that aortic AWS differs between Friesian and Warmblood horses. Friesians seem to have a stiffer aorta, which might be related to the higher incidence of aortic rupture in Friesians.
Caring for Indigenous families in the neonatal intensive care unit
Authors: Wright Amy L. , Ballantyne Marilyn , Wahoush Olive 
Published: February 2020

AbstractInequitable access to health care, social inequities, and racist and discriminatory care has resulted in the trend toward poorer health outcomes for Indigenous infants and their families when compared to non‐Indigenous families in Canada. How Indigenous mothers experience care during an admission of their infant to the Neonatal Intensive Care Unit has implications for future health‐seeking behaviors which may influence infant health outcomes. Nurses are well positioned to promote positive health care interactions and improve health outcomes by effectively meeting the needs of Indigenous families. This qualitative study was guided by interpretive description and the Two‐Eyed Seeing framework and aimed to understand how Indigenous mothers experience accessing and using the health care system for their infants. Data were collected by way of interviews and a discussion group with self‐identifying Indigenous mothers of infants less than two years of age living in Hamilton, Ontario, Canada. Data underwent thematic analysis, identifying nursing strategies to support positive health care interactions and promote the health and wellness of Indigenous infants and their families. Building relationships, providing holistic care, and taking a trauma‐informed approach to the involvement of child protection services are three key strategies that nurses can use to positively impact health care experiences for Indigenous families.
Lower sensitivity to peripheral hypermetropic defocus due to higher order ocular aberrations
Authors: Papadogiannis Petros , Romashchenko Dmitry , Unsbo Peter , Lundström Linda 
Published: February 2020

AbstractPurposeMany myopia control interventions are designed to induce myopic relative peripheral refraction. However, myopes tend to show asymmetries in their sensitivity to defocus, seeing better with hypermetropic rather than myopic defocus. This study aims to determine the influence of chromatic aberrations (CA) and higher‐order monochromatic aberrations (HOA) in the peripheral asymmetry to defocus.MethodsPeripheral (20° nasal visual field) low‐contrast (10%) resolution acuity of nine subjects (four myopes, four emmetropes, one hypermetrope) was evaluated under induced myopic and hypermetropic defocus between ±5 D, under four conditions: (a) Peripheral Best Sphere and Cylinder (BSC) correction in white light; (b) Peripheral BSC correction + CA elimination (green light); (c) Peripheral BSC correction + HOA correction in white light; and (d) Peripheral BSC correction + CA elimination + HOA correction. No cycloplegia was used, and all measurements were repeated three times.ResultsThe slopes of the peripheral acuity as a function of positive and negative defocus differed, especially when the natural HOA and CA were present. This asymmetry was quantified as the average of the absolute sum of positive and negative defocus slopes for all subjects (AVS). The AVS was 0.081 and 0.063 logMAR/D for white and green light respectively, when the ocular HOA were present. With adaptive optics correction for HOA, the asymmetry reduced to 0.021 logMAR/D for white and 0.031 logMAR/D for green light, mainly because the sensitivity to hypermetropic defocus increased when HOA were corrected.ConclusionThe asymmetry was only slightly affected by the elimination of the CA of the eye, whereas adaptive optics correction for HOA reduced the asymmetry. The HOA mainly affected the sensitivity to hypermetropic defocus.
Relationship Between Tethered Swimming in a Flume and Swimming Performance
Authors: Ruiz-Navarro Jesús J. , Morouço Pedro G. , Arellano Raúl 
Published: February 2020

Purpose: To study the relationship between tethered swimming in a flume at different speeds and swimming performance. Methods: Sixteen regional-level swimmers performed 25-, 50-, and 100-m front-crawl trials and four 30-s tethered-swimming tests at 0, 0.926, 1.124, and 1.389 m·s−1 water-flow velocities. Average and maximum force, average and maximum impulse, and intracyclic force variation (dF) were estimated for each tethered-swimming trial. Swimming velocity and intracyclic velocity variation (dv) were obtained for each free-swimming trial. Stroke rate and rating of perceived exertion (RPE) were registered for all trials. Results: Tethered-swimming variables, both at 1.124 m·s−1 and at 1.389 m·s−1 water-flow velocities, were positively associated with 25-m swimming velocity (P < .05). Average force and maximum impulse in stationary swimming were significantly associated with 25-m swimming velocity (P < .05). A positive relationship between water-flow velocities with dF was observed. Swimming performance was not related to dF or dv. Neither stroke rate nor RPE differed between the 4 tethered conditions and mean 50-m free-swimming velocity (P > .05). Conclusions: Measuring force in a swimming flume at higher water-flow velocities is a better indicator of performance than stationary tethered swimming. It enables assessment of the ability to effectively apply force in the water.
Multicentre randomised controlled trial of balloon pulmonary angioplasty and riociguat in patients with chronic thromboembolic pulmonary hypertension: protocol for the MR BPA study
Authors: Kawakami Takashi , Matsubara Hiromi , Abe Kohtaro , Kataoka Masaharu , Kohsaka Shun , Sato Yasunori , Shinke Toshiro , Fukuda Keiichi 
Published: February 2020

IntroductionManagement of inoperable chronic thromboembolic pulmonary hypertension (CTEPH) remains a clinical challenge. Currently, medical treatment involving pulmonary vasodilators (such as soluble guanylate-cyclase stimulators) is recommended, primarily for ameliorating symptoms. More recently, balloon pulmonary angioplasty (BPA) has been developed as alternative treatment for inoperable CTEPH. This study aimed to compare the efficacy and safety of BPA and riociguat (a soluble guanylate-cyclase stimulator) as treatments for inoperable CTEPH.Methods and analysisThis study is a multicentre randomised controlled trial. Subjects with inoperable CTEPH were randomised (1:1) into either a BPA or riociguat group, and observed for 12 months after initiation of treatment. The primary endpoint will be the change in mean pulmonary arterial pressure from baseline to 12 months after initiation of treatment. For primary analysis, we will estimate the least square means difference and 95% CI for the change of pulmonary arterial pressure between the groups at 12 months using the analysis of covariance adjusted for allocation factors.Ethics and disseminationThis study and its protocols were approved by the institutional review board of Keio University School of Medicine and each participating institution. Written informed consent was obtained from all participants. Results will be disseminated at medical conferences and in journal publications.Trial registration numberUniversity Hospital Medical Information Network Clinical Trial Registry (UMIN000019549); Pre-results.
Mental health selection: common mental disorder and migration between multiple states of deprivation in a UK cohort
Authors: Greene Giles , Gartner Andrea , Farewell Daniel , Trefan Lazlo , Davies Alisha R , Bellis Mark A , Paranjothy Shantini 
Published: February 2020

ObjectivesTo assess whether the direction of movement along the social gradient was associated with changes in mental health status.DesignLongitudinal record-linkage study using a multistate model.SettingCaerphilly, Wales, UK between 2001 and 2015.ParticipantsThe analytical sample included 10 892 (60.8% female) individuals aged 18–74 years.Primary and secondary outcome measuresDeprivation change at lower super output area level using the 2008 Welsh Index of Multiple Deprivation. Mental health was assessed in 2001 and 2008 using the Mental Health Inventory subscale of the short-form 36 V.2.ResultsMental health selection was shown whereby individuals with common mental health disorders were less likely to move to areas of lower deprivation but more likely to move to areas of greater deprivation.ConclusionPoor mental health seems to drive health selection in a similar way to poor physical health. Therefore, funding targeted at areas of higher deprivation should consider the demand to be potentially higher as individuals with poor mental health may migrate into that area.