bluuebunny/crossref_metadata_2025_split huggingface dataset:
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Authors: Diderich Karin E. M. , Romijn Kathleen , Joosten Marieke , Govaerts Lutgarde C. P. , Polak Marike , Bruggenwirth Hennie T. , Wilke Martina , van Slegtenhorst Marjon A. , van Bever Yolande , Brooks Alice S. , Mancini Grazia M. S. , van de Laar Ingrid M. B. H. , Kromosoeto Joan N. R. , Knapen Maarten F. C. M. , Go Attie T. J. I. , Van Opstal Diane , Hoefsloot Lies H. , Galjaard Robert‐Jan H. , Srebniak Malgorzata I. 
Published: November 2020

AbstractIntroductionThe aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results.Material and methodsIn the period 2013‐2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre‐ and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal).ResultsIn 76 of 391 fetuses (19.4%, 95% CI 15.8%‐23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis.ConclusionsOur retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype.
Infant‐Toddler Checklist identifies 18‐month‐old children with communication difficulties in the Swedish child healthcare setting
Authors: Fäldt Anna , Fabian Helena , Dahlberg Anton , Thunberg Gunilla , Durbeej Natalie , Lucas Steven 
Published: November 2020

AbstractAimAt present, there is no reliable method to screen for communication difficulties at age 18‐months in the Swedish child health care. This study examined the psychometric properties of the Communication and Symbolic Behavior Scales Developmental Profile Infant‐Toddler Checklist (ITC) when used at the 18‐month visit in the child healthcare setting.MethodsChildren aged 16–20 months (n = 679) were screened. Children were referred for an assessment if they screened positive screen or if the parent or nurse was concerned about the child's communicative development. Two groups of positive screens were used in the analysis (n = 78 children), one based on the ITC result, and one combining the ITC with contradicting information from the nurses' informal clinical assessment.ResultsThe AUC ranged from 0.68 to 0.84. The sensitivity was 0.85, and the specificity was 0.59. When the ITC result was combined with the nurses' information, sensitivity increased to 0.88 and specificity to 0.63. The internal consistency was moderate to high, and fit indices were satisfactory.ConclusionThe results suggest that the ITC can be used to identify children in need of interventions to enhance communication at 18 months of age, especially in combination with the nurse's assessment.
Maternal pre‐pregnancy underweight as a risk factor for the offspring: Survey of Neonates in Pomerania
Authors: Domanski Grzegorz , Lange Anja Erika , Ittermann Till , Fallenberg Jonas , Allenberg Heike , Zygmunt Marek , Heckmann Matthias 
Published: November 2020

AbstractAimThe aim was to investigate socio‐economic risk factors for maternal underweight before pregnancy and then associations of underweight with neonatal outcomes.MethodsData of 3401 mother‐child dyads from the population‐based birth cohort Survey of Neonates in Pomerania (SNiP) were analysed.ResultsBivariate analysis showed that underweighted mothers were younger, smoked more often, had a lower equivalent income and lower socio‐economic status (employment status and/or educational level) compared to women with normal weight. The final prediction model revealed that only younger maternal age (OR = 0.93; 95%‐CI = 0.90‐0.97) and maternal smoking during pregnancy (OR = 2.52; 95%‐CI = 1.74‐3.66) were associated with underweight. Compared to women with normal pre‐pregnancy BMI, underweight women had an increased chance of premature labour (OR = 1.73; 95% CI: 1.29‐2.31) and a reduced placental weight. The offspring of underweight women had an increased risk of late preterm birth (OR = 1.82; 95% CI: 1.21‐2.74) and birthweight < 2500 g (OR = 1.91; 95% CI: 1.23‐2.95).ConclusionSmoking during pregnancy and a younger age were identified as risk factors for maternal pre‐pregnancy underweight which then was associated with late preterm birth and low birthweight.
Maternal presentation and neonatal outcome in peripartum enterovirus infection
Authors: Belov Yekaterina , Many Ariel , Givon Ido , Marom Ronella , Yogev Yariv , Halutz Ora , Fouks Yuval 
Published: November 2020

AbstractAimEnterovirus is a common pathogen. Although mostly asymptomatic, this infection has the potential to be life‐threatening in neonates. This article aims to describe the early neonatal outcomes in peripartum infection.MethodsWe performed a retrospective cohort study in a tertiary hospital between 1/2014 and 5/2019. The enterovirus infection was established by real‐time polymerase chain reaction analysis.ResultsOut of 161 neonates tested for the enterovirus infection 13 (8%) were positive. Maternal fever was the most common sign (n = 8, 66.7%). The mean gestational age at delivery was 36 + 5 (range 30 + 5 to 40 + 6 weeks). The mean time interval from birth to neonatal manifestations of infection was 5.2 (0–9) days. The most common presenting sign in the neonates was fever (n = 8, 61.5%). All neonates required the neonatal intensive care unit. The neonatal mortality rate was 3/13 (23%).ConclusionThe neonatal morbidity and mortality from the enterovirus infection may have been associated with the severity of maternal presentation at the time of admission. Enterovirus real‐time polymerase chain reaction analysis should be considered as part of the maternal evaluation in cases of maternal fever of unknown origin. Deferral of the induction of delivery for term pregnancies with confirmed enterovirus infections should be considered.
Regulatory microRNAs and vascular cognitive impairment and dementia
Authors: Zhang Jing , Sun Ping , Zhou Chao , Zhang Xuejing , Ma Feifei , Xu Yang , Hamblin Milton H. , Yin Ke‐Jie 
Published: November 2020

AbstractVascular cognitive impairment and dementia (VCID) is defined as a progressive dementia disease related to cerebrovascular injury and often occurs in aged populations. Despite decades of research, effective treatment for VCID is still absent. The pathological processes of VCID are mediated by the molecular mechanisms that are partly modulated at the post‐transcriptional level. As small endogenous non‐coding RNAs, microRNAs (miRs) can regulate target gene expression through post‐transcriptional gene silencing. miRs have been reported to play an important role in the pathology of VCID and have recently been suggested as potential novel pharmacological targets for the development of new diagnosis and treatment strategies in VCID. In this review, we summarize the current understanding of VCID, the possible role of miRs in the regulation of VCID and attempt to envision future therapeutic strategies. Since manipulation of miR levels by either pharmacological or genetic approaches has shown therapeutic effects in experimental VCID models, we also emphasize the potential therapeutic value of miRs in clinical settings.
Kombination von Chemotherapie und autologen, Peptid‐beladenen dendritischen Zellen bringt Überlebensvorteil bei Melanompatienten im Stadium IV
Authors: Eisendle Klaus , Weinlich Georg , Ebner Susanne , Forstner Markus , Reider Daniela , Zelle‐Rieser Claudia , Tripp Christoph H. , Fritsch Peter , Stoitzner Patrizia , Romani Nikolaus , Nguyen Van Anh 
Published: November 2020

ZusammenfassungHintergrund und StudienzieleWir untersuchten retrospektiv, ob die Kombination der Standardchemotherapie (Dacarbazin [DTIC] und/oder Fotemustin) und Vakzination mit autologen, Tumorpeptid‐beladenen dendritischen Zellen (DZ) im Stadium IV Melanompatienten einen Überlebensvorteil bringen würde. Zusätzlich wurde eine kleine Kohorte von langzeitüberlebenden Patienten eingehender studiert.Patienten und Methodik41 Patienten wurden zwischen 1998 und 2008 mindestens dreimal mit DZ vakziniert, kombiniert mit Chemotherapie. Sie wurden verglichen mit allen 168 Patienten aus unserer Datenbank (1993–2008), welche ausschließlich Chemotherapie erhalten hatten.ErgebnisseDie mediane Lebenserwartung der Patienten mit zusätzlicher DZ‐Vakzination war 18 Monate, verglichen mit 11 Monaten bei den Patienten unter alleiniger Standardchemotherapie. Im Gegensatz zu Patienten mit anderen Haplotypen zeigte die Gruppe der HLA‐A1/A1‐exprimierenden Patienten ein deutlich vermindertes medianes Überleben (12 vs. 25 Monate). Autoantikörper wurden häufig im Serum von vakzinierten, wie auch von nicht vakzinierten Patienten gefunden. Titer, De‐novo‐Erscheinen oder Verschwinden der Autoantikörper korrelierten nicht mit dem Überleben. Die Untersuchung der phänotypischen Merkmale der DZ sowie der peripheren mononukleären Zellen des Blutes (PBMC) ergab auch keine auffälligen Korrelationen mit dem Überleben.SchlussfolgerungenDie Kombination der Standardchemotherapie mit einer DZ‐Vakzination erscheint der alleinigen Chemotherapie überlegen. Der beobachtete Einfluss des HLA‐Haplotyps unterstreicht die Wichtigkeit einer sorgfältigen Selektion von Patienten mit spezifischem, exakt definiertem HLA‐Status für künftige Vakzinationsstudien mit Peptid‐beladenen DZ, durchaus auch in erweiterter Kombination mit Immuncheckpoint‐Inhibitoren.
Dispersal ability, trophic position and body size mediate species turnover processes: Insights from a multi‐taxa and multi‐scale approach
Authors: Bae Soyeon , Heidrich Lea , Levick Shaun R. , Gossner Martin M. , Seibold Sebastian , Weisser Wolfgang W. , Magdon Paul , Serebryanyk Alla , Bässler Claus , Schäfer Deborah , Schulze Ernst‐Detlef , Doerfler Inken , Müller Jörg , Jung Kirsten , Heurich Marco , Fischer Markus , Roth Nicolas , Schall Peter , Boch Steffen , Wöllauer Stephan , Renner Swen C. , Müller Jörg 
Published: November 2020

AbstractAimDespite increasing interest in β‐diversity, that is the spatial and temporal turnover of species, the mechanisms underlying species turnover at different spatial scales are not fully understood, although they likely differ among different functional groups. We investigated the relative importance of dispersal limitations and the environmental filtering caused by vegetation for local, multi‐taxa forest communities differing in their dispersal ability, trophic position and body size.LocationTemperate forests in five regions across Germany.MethodsIn the inter‐region analysis, the independent and shared effects of the regional spatial structure (regional species pool), landscape spatial structure (dispersal limitation) and environmental factors on species turnover were quantified with a 1‐ha grain across 11 functional groups in up to 495 plots by variation partitioning. In the intra‐region analysis, the relative importance of three environmental factors related to vegetation (herb and tree layer composition and forest physiognomy) and spatial structure for species turnover was determined.ResultsIn the inter‐region analysis, over half of the explained variation in community composition (23% of the total explained 35%) was explained by the shared effects of several factors, indicative of spatially structured environmental filtering. Among the independent effects, environmental factors were the strongest on average over 11 groups, but the importance of landscape spatial structure increased for less dispersive functional groups. In the intra‐region analysis, the independent effect of plant species composition had a stronger influence on species turnover than forest physiognomy, but the relative importance of the latter increased with increasing trophic position and body size.Main conclusionsOur study revealed that the mechanisms structuring assemblage composition are associated with the traits of functional groups. Hence, conservation frameworks targeting biodiversity of multiple groups should cover both environmental and biogeographical gradients. Within regions, forest management can enhance β‐diversity particularly by diversifying tree species composition and forest physiognomy.
Higher ACE2 expression levels in epicardial cells than subcutaneous stromal cells from patients with cardiovascular disease: Diabetes and obesity as possible enhancer
Authors: Couselo‐Seijas Marinela , Almengló Cristina , M Agra‐Bermejo Rosa , Luis Fernandez Ángel , Alvarez Ezequiel , R González‐Juanatey Jose , Eiras Sonia 
Published: November 2020

AbstractAimsObesity, diabetes and cardiovascular disease are associated with COVID‐19 risk and severity. Because epicardial adipose tissue (EAT) expresses ACE2, we wanted to identify the main factors associated with ACE2 levels and its cleavage enzyme, ADAM17, in epicardial fat.Materials and methodsEpicardial and subcutaneous fat biopsies were obtained from 43 patients who underwent open‐heart surgery. From 36 patients, biopsies were used for RNA expression analysis by real‐time PCR of ACE1, ACE2 and ADAM17. From 8 patients, stromal vascular cells were submitted to adipogenesis or used for studying the treatment effects on gene expression levels. Soluble ACE2 was determined in supernatants by ELISA.ResultsEpicardial fat biopsies expressed higher levels of ACE2 (1.53 [1.49‐1.61] vs 1.51 [1.47‐1.56] a.u., P < .05) and lower ADAM17 than subcutaneous fat (1.67 [1.65‐1.70] vs 1.70 [1.66‐1.74] a.u., P < .001). Both genes were increased in epicardial fat from patients with type 2 diabetes mellitus (T2DM) (1.62 [1.50‐2.28] vs 1.52 [1.49‐1.55] a.u., P = .05 for ACE2 and 1.68 [1.66‐1.78] vs 1.66 [1.63‐1.69] a.u., P < .05 for ADAM17). Logistic regression analysis determined that T2DM was the main associated factor with epicardial ACE2 levels (P < .01). The highest ACE2 levels were found on patients with diabetes and obesity. ACE1 and ACE2 levels were not upregulated by antidiabetic treatment (metformin, insulin or thiazolidinedione). Its cellular levels, which were higher in epicardial than in subcutaneous stromal cells (1.61 [1.55‐1.63] vs 1 [1‐1.34]), were not correlated with the soluble ACE2.ConclusionEpicardial fat cells expressed higher levels of ACE2 in comparison with subcutaneous fat cells, which is enhanced by diabetes and obesity presence in patients with cardiovascular disease. Both might be risk factors for SARS‐CoV‐2 infection.
Effect of low‐dose colchicine in acute and chronic coronary syndromes: A systematic review and meta‐analysis
Authors: Aimo Alberto , Pascual Figal Domingo A. , Bayes‐Genis Antoni , Emdin Michele , Georgiopoulos Georgios 
Published: November 2020

AbstractBackgroundSparse evidence of the prognostic benefit of the anti‐inflammatory drug colchicine in chronic and acute coronary syndromes (CCS/ACS) exists.MethodsWe performed a systematic search of studies on CCS or ACS comparing colchicine vs. placebo and reporting data on cardiovascular outcomes (primary end points of each study) and/or changes in hs‐CRP.ResultsTen studies were selected: three on CCS (LoDoCo, LoDoCo2 and the CCS subgroup of COLCHICINE‐PCI; total patient number = 6256), three on ACS (COLCOT, COPS, ACS subgroup of COLCHICINE‐PCI; n = 5,654) and five (n = 532) on hs‐CRP changes from 1 week to 12 months, in CCS and/or ACS. In patients with CCS, colchicine reduced by 49% risk of a composite end point (hazard ratio [HR] 0.51, 95% confidence interval [CI] 0.32 to 0.81,P = .005). The favourable effect of colchicine on the risk of cardiovascular events did not change when excluding COLCHICINE‐PCI from analysis (HR 0.51, 95% CI 0.25 to 1.03,P = .061). In patients with ACS, the use of colchicine tended to decrease the occurrence of the combined end point compared with placebo (HR = 0.77, 95% CI 0.56 to 1.05,P = .100), and colchicine became significantly protective when removing COLCHICINE‐PCI from analysis (HR = 0.72, 95% CI 0.56 to 0.92,P = .009). Furthermore, colchicine tended to reduce the hs‐CRP increase (standardized mean difference=−0.31, 95% CI −0.72 to 0.1,P = .133) compared with placebo.ConclusionsColchicine therapy near halves the risk of cardiovascular events in CCS compared with placebo and is associated with a nonsignificant 23% risk reduction in ACS, together with a trend towards a greater reduction of hs‐CRP.
Coal‐mining intensity influences species and trait distributions of stream fishes in two Central Appalachian watersheds
Authors: Martin Zachary P. , Angermeier Paul L. , Ciparis Serena , Orth Donald J. 
Published: November 2020

AbstractDocumenting responses of biotic assemblages to coal‐mining impacts is crucial to informing regulatory and reclamation actions. However, attributing biotic patterns to specific stressors is difficult given the dearth of preimpact studies and prevalence of confounding factors. Analysing species distributions and abundances, especially stratified by species traits, provides insights into how assemblage composition shifts occur. We evaluated stream habitats and fish assemblages along a mining intensity gradient in 83 headwater (2nd‐ and 3rd‐order) streams of the upper Clinch and Powell river basins in Virginia. Our multivariate gradient (MINE.PC1) was based on percentages of watershed area covered by surface mine, underground mine and valley fill to represent spatial variance in mining intensity. MINE.PC1 was positively correlated with conductivity and percentage of substrate as cobble. Forty fish‐assemblage metrics were analysed via boosted regression trees to assess assemblage responses to mining intensity, while accounting for environmental variation and spatial structure among sites. Conductivity and MINE.PC1 were strongly negatively related to occurrences of Fantail Darter (Etheostoma flabellare) and sculpin (Cottus) spp. Several taxonomic, trophic and reproductive metrics of assemblage composition responded strongly to mining intensity or its instream correlates. For example, coal mining favoured omnivore‐herbivores, but inhibited invertivores, simple lithophils and nonsimple nonlithophils. We revealed distinct negative and positive responses to mining‐related stressors, which suggest changes to macroinvertebrate prey availability and/or contaminant loads contribute to fish extirpations in coalfield streams. Future assessments of mining impacts on fish assemblages could be more instructive by including characterisations of physicochemical stressors and regionally calibrated biotic metrics with demonstrated sensitivity to mining.
Perceived stress, social functioning and quality of life in first‐episode psychosis: A 1‐year follow‐up study
Authors: Ortega Laura , Montalvo Itziar , Monseny Rosa , Burjales‐Martí Maria Dolors , Martorell Lourdes , Sanchez‐Gistau Vanessa , Vilella Elisabet , Labad Javier 
Published: November 2020

AbstractAimQuality of life (QoL) has been widely studied in people with schizophrenia. In the early phases of psychosis, it remains often impaired even after the remission of psychotic symptoms. The aim of this study was to explore QoL and social functioning during the first year after a first‐episode psychosis (FEP), and to study potential moderating effects of stress measures.MethodsHere, 61 FEP subjects and 55 healthy controls (HCs) were included. Sociodemographic data and clinical variables were collected through a semi‐structured interview. Stress measures, social functioning and QoL were assessed with the Holmes–Rahe Social Readjustment Rating Scale, the Perceived Stress Scale, the Social Adaptation Self‐Scale and the Euro‐QoL‐5D, respectively. Analysis of variance was employed with repeated measures and a mediation analysis at baseline and at 1‐year follow‐up was carried out.ResultsPatients reported lower QoL, poorer social functioning and more stress than HC. FEP patients significantly improved in QoL and stress measures over time, but not in social functioning. Perceived stress mediated the association between poorer social functioning and lower QoL.ConclusionsSocial functioning at baseline may determine QoL over a 1‐year follow‐up period. Despite the improvement in most measures, patients do not achieve the level of well‐being as the healthy group.
Can social welfare buy mass loyalty?
Authors: Yang Wenhui , Shen Xiaoxiao 
Published: November 2020

AbstractDo social welfare benefits enhance political legitimacy in nondemocracies? Conventional wisdom treats material interest as being the central mechanism underpinning widespread political attitudes, but social welfare is not always effective in garnering political support in nondemocracies. Using a regression discontinuity design, we find that even though receiving social welfare benefits has significantly improved individuals' well‐being, their political support in different levels of government have not significantly grown. We demonstrate that the null effect of social welfare on political support can be partially explained by individuals' exposure to political violence before. Social welfare benefits yield a backsliding effect on local government support when individuals were exposed to high revolutionary intensity.
Mediated roles of generalized trust and perceived social support in the effects of problematic social media use on mental health: A cross‐sectional study
Authors: Lin Chung‐Ying , Namdar Peyman , Griffiths Mark D. , Pakpour Amir H. 
Published: November 2020

AbstractBackgroundCurrent literature lacks evidence concerning how problematic social media use associates with mental health. To address the gap, the present study used mediation models to examine whether generalized trust and perceived social support (PSS) are potential mediators in the relationship between problematic social media use and mental health.MethodsThe sample comprised Iranian adults (n = 1073; 614 females). The participants completed a number of scales to assess problematic social media use (Bergen Social Media Addiction Scale), generalized trust (Generalized Trust Scale), PSS (Multidimensional Scale of Perceived Social Support, happiness (Oxford Happiness Questionnaire Short Form), depression and anxiety (Hospital Anxiety and Depression Scale), and mental quality of life (Short Form‐12).ResultsProblematic social media use had negative effects on happiness and mental quality of life via the mediators of generalized trust (bootstrapping SE = 0.017; effect = −0.041; 95% CI = −0.079, −0.012) and PSS (bootstrapping SE = 0.023; effect = −0.163; 95% CI = −0.211, −0.119). Problematic social media use had positive effects on anxiety and depression via the mediators of generalized trust (bootstrapping SE = 0.022; effect = 0.064; 95% CI = 0.026, 0.113) and PSS (bootstrapping SE = 0.024; effect = 0.052; 95% CI = 0.009, 0.102).ConclusionsProblematic social media use, generalized trust and PSS are important factors for an individual's mental health. Health‐care providers may want to assist individuals regardless of having mental health problems in reducing their problematic social media use and improving their generalized trust and social support.