bluuebunny/crossref_metadata_2025 huggingface dataset:
‘That’s what the dream says’: The use of normalizing devices in dream reports
Authors: Bardina Svetlana
Published: March 2021

The paper examines the discursive construction of dream reports. Based on a discursive constructionist approach, the study reviews problematic aspects of constructing dream narratives. Particularly, dream-tellers need to display the external character of their reports and to demonstrate that – although in their dreams they saw and did strange things – they are normal and reliable agents. Subsequently, particular ways in which people report on unrealistic content of their dreams are explored. For this purpose, the use of normalizing devices in dream reports published on dream-sharing websites is analyzed. The study demonstrates that several normalizing devices, including contrast structures and two-part structures – such as ‘At first I thought X. . . but then I realized Y’ and ‘I was just doing X… when Y’ – are employed in dream reports. The study also suggests that the proper use of these devices might possibly contribute to the trustworthiness of dream reports in everyday interaction.
High-throughput identification and determination of aminoglycoside antibiotics in human plasma using UPLC–Q-ToF-MS
Authors: Minohara Sawa , Fujishiro Masaya , Lee Xiao-Pen , Imai Ayumi , Hashimoto Mari , Hasegawa Chika , Kuroki Tomoaki , Kadomatsu Koichi , Kumazawa Takeshi , Kato Akihito , Matsuyama Takaaki
Published: March 2021

Aminoglycosides are a class of broad-spectrum antibiotics with several clinical uses. Owing to the ototoxicity and nephrotoxicity of aminoglycosides, therapeutic drug monitoring is required. This study aimed to devise a high-throughput method for identification and quantitative determination of aminoglycoside antibiotics in human plasma samples using ultra-performance liquid chromatography–quadrupole time-of-flight-mass spectrometry (UPLC–Q-ToF-MS). Plasma samples (100 µL) spiked with five aminoglycosides (streptomycin, spectinomycin, amikacin, kanamycin, and gentamycin) and an internal standard (ribostamycin) were diluted and centrifuged in aqueous formic acid and acetonitrile. The clear supernatant extract was evaporated and reconstituted in the mobile phase, of which 4 µL was subjected to UPLC–Q-ToF-MS. Prominent peaks were observed for the drugs within 3 min. The recoveries of five aminoglycosides from plasma samples were 92.6–120%. The regression equations showed excellent linearity (0.9999 ≥ r2 ≥ 0.9987) within the range of 1.0–100 µg/mL, and detection limits of 0.5–2.0 µg/mL. The coefficients of the intra- and inter-day variations for five drugs were less than 11.8%, while the accuracy of quantitation was in the range of 89–111%. In this study, a novel method was presented for identification and determination of aminoglycosides in human plasma samples using UPLC–Q-ToF-MS analysis. This method can be applied to high-throughput analysis used for clinical and environmental purposes.
Perception of cross-cultural adjustment by immigrant professionals from three ethnic groups in one host context
Authors: Taylor Yulia , Everett André M. , Edgar Fiona
Published: March 2021

Ensuring that immigrant professionals experience cross-cultural adjustment positively is beneficial for both employers and host countries, as well as the immigrants themselves, yet has proven problematic in practice. This study utilises a series of longitudinal interviews to examine the personal narratives of three strategically selected sets of recently arrived professionals from the British Isles, China, and the former Soviet Union who are employed in New Zealand. Immersive research, employing Interpretative Phenomenological Analysis (IPA), followed the participants over 1 year of their life, illuminating their struggles, wins, and contradictions, endeavouring to develop a deep understanding of what it feels like to be an immigrant professional in a new, often culturally unusual country. This study reports the discovery of divergent sets of characteristics influencing the cross-cultural adjustment perceptions of interview+ees from different ethnic groups within the same host country. It finds that ‘one size does not fit all’.
Examining Intergroup Dialogue’s Potential to Promote Social Justice in Adult Education
Authors: French Patrice , James-Gallaway Chaddrick , Bohonos Jeremy
Published: March 2021

Intergroup dialogue (IGD) is a program for facilitating conversations about social identity, institutionalized and systemic oppression, social conflict, and social justice. This article examines how IGD can contribute to adult education’s socially just goals by facilitating transformative learning. An initial review of the literature, followed by a discussion of IGD’s relationship to existing social justice pedagogy, highlights IGD’s transformative aspects in various learning settings within the adult education field. Finally, this article provides recommendations on how IGD can contribute to adult education practice and research while exploring implications and limitations.
Visualizing the Future of Collections: How to Make Data Visualization Accessible and Useful for Managing Collections and Museums
Authors: Mailhot Jessica
Published: March 2021

Data are vital to collections—from managing their holdings to quantifying their impact. Data visualization can be a powerful asset for collections because it translates complex data into something intuitive. In recent years, data visualization (and dashboards specifically) has gradually been applied in collections for various tasks and audiences. However, this frontier is still new, and there are significant barriers making data visualization inaccessible for most collections, including time and resources, programming experience, training materials, and consistent examples. In this case study, I directly address these barriers by designing a suite of collection management dashboards using the free and user-friendly software Tableau Public and tutorials that explain how to use and customize the them. These resources were finalized with the input from a representative pool of the target audience. Everything is freely available online at http://www.CollVizDashboards.com . As museums continue to evolve, data visualization ought to be accessible to all collections.
Direct percutaneous transcarotid approach for embolization of dural sinus malformation in a premature neonate: A case report
Authors: Moazeni Yasaman , Abdalla Ramez N , Cantrell Donald R , Hurley Michael C , Ansari Sameer A , DiPatri Arthur J , Shaibani Ali
Published: March 2021

Dural sinus malformations (DSM) can manifest with high output cardiac failure in neonates. Interventional procedures reduce the effect of shunting on cardiac function. The umbilical artery access (UA) is the preferred route in such cases, but it is not always available. Although transfemoral arterial access (TFA) is feasible, it can be associated with complications including limb ischemia in neonates with low birth weight (LBW) and small size. The Transcarotid arterial (TCAA) approach has been successfully used in pediatric cardiac interventions, however, its use in Pediatric Neurointervention is rare. We report antegrade percutaneous TCAA for embolization of DSM in a premature neonate with BW of 1710 grams and prenatal diagnosis of DSM who was delivered at 32 weeks due to worsening cardiac failure. Due to unavailable UA, embolization was performed via (TFA) at day 2, which was complicated by significant limb ischemia. Recurrent clinical deterioration warranted additional treatment, including 2 further embolizations which were performed via percutaneous TCAA of the left and right common carotid arteries at day 59 and 71 with no immediate or intermediate complications.

Conclusions

Direct percutaneous TCAA can be a feasible access for intracranial interventions in neonates with LBW and unavailable UA access.
Rapid point-of-care anti-infliximab antibodies detection in clinical practice: comparison with ELISA and potential for improving therapeutic drug monitoring in IBD patients
Authors: Facchin Sonia , Buda Andrea , Cardin Romilda , Agbariah Nada , Zingone Fabiana , De Bona Manuela , Zaetta Debora , Bertani Lorenzo , Ghisa Matteo , Barberio Brigida , Savarino Edoardo Vincenzo
Published: March 2021

Anti-drug antibodies can interfere with the activity of anti-tumor necrosis factor (TNF) agents by increasing drug clearance via direct neutralization. The presence of anti-drug antibodies is clinically relevant when trough drug concentrations are undetectable or sub-therapeutic. However, traditional immunoassay is not easily and rapidly accessible, making the translation of the results into treatment adjustment difficult. The availability of a point-of-care (POC) test for therapeutic drug monitoring (TDM) might represent an important step forward for improving the management of inflammatory bowel disease (IBD) patients in clinical practice. In this pilot study, we compared the results obtained with POC tests with those obtained by enzyme-linked immunosorbent assay (ELISA) in a group of IBD patients treated with Infliximab (IFX). We showed that POC test can reliably detect presence of antibody-to-IFX with 100% of specificity and 76% sensitivity, in strong agreement with the ELISA test ( k-coefficient = 0.84).
Advancing Food Well-Being in Poverty Through Intersectionality
Authors: Ashik Farhan , Voola Archana , Voola Ranjit , Carlson Jamie , Wyllie Jessica
Published: March 2021

This article explores the importance of employing intersectionality when investigating food well-being (FWB) in poverty framework. We argue that this approach provides a more nuanced and realistic lens for both marketers and policy makers when developing FWB strategies in the context of poverty. To this end, this article focuses on the intersection of ethnicity and gender to examine food consumption practices of two groups of women living in poverty in Bangladesh. Specifically, the research design uses semi-structured interviews with 16 Santal (ethnic minority) and 14 Muslim (ethnic majority) women to explore commonalities and differences in their consumption experiences. The findings provide new insights into how marketers and policy makers can engage with diverse ethnic communities to enhance their FWB. This article contributes to the FWB literature by introducing intersectionality as a mechanism to uncover differences in advantage and disadvantage based on overlapping categories of ethnicity, gender, and class. Implications for marketers and policy makers include (a) developing food policies that pay attention and respect to cultural norms and sociohistorical experiences, (b) creating and shaping social networks, (c) investing in infrastructure and utilities that prioritize ethnic minorities, and (d) seeking out jugaad (frugal) innovations.
Intraosseous Anchorage of a Collagen Matrix Graft to Enhance Repair of Peroneus Brevis Tendon Degeneration
Authors: Crafton Jordan W. , Basile Philip , Cook Jeremy
Published: March 2021

Introduction

Chronic degeneration of the peroneus brevis tendon (PBT) at its insertion to the base of the fifth metatarsal is uncommon; however, when present it can be a challenge to treat. Repair of the PBT often requires tubularization with or without a peroneus longus tendon transfer. These repairs, however, may not provide resultant full muscle strength, especially if ostectomy of the fifth metatarsal base is required. We report outcomes following a novel technique for anatomic repair of degenerative PBT with intraosseous fifth metatarsal base fixation of a collagen matrix graft.

Methods

Thirteen consecutive patients (14 procedures) with degeneration of PBT that underwent tendon repair augmented with collagen matrix graft from 2011 to 2019 were reviewed retrospectively. We present outcome data of these 13 patients that were followed for at least 12 months.

Results

Muscle strength, complications, and patient-reported subjective outcomes were reported. There were 10 females and 3 males. Average age was 49.1 years, and average follow-up was 34.9 months. Muscle strength was reported at 5/5 to the PBT by the final follow-up for 92% of patients. There were minimal complications, 84.6% (11/13) of patients had no limitation in activity level, and 92% (12/13) would recommend this procedure to a friend.

Conclusion

Outcomes for this novel repair technique for insertional degenerative PBT have never been reported before and show excellent results with long-term follow-up.
Hybrid Media and Hybrid Politics: Contesting Informational Uncertainty in Lebanon and Tunisia
Authors: Voltmer Katrin , Selvik Kjetil , Høigilt Jacob
Published: March 2021

This paper investigates the dynamic relationship between hybrid media and hybrid politics in Lebanon and Tunisia. While previous research on the media in hybrid regimes has mainly focused on regime strategies of restricting and manipulating public debate, our analysis moves beyond repression. We argue that the ambiguities of hybrid politics, which combines democratic and authoritarian elements, not only constrain independent and critical reporting but also open up opportunities for journalistic agencies. We draw on Schedler's concept of informational uncertainty to capture the epistemological instability of hybrid regimes and the strategies of political actors to control public knowledge. Distinguishing between three dimensions of media hybridity - economic, cultural and technological - we show how the new hybrid media environment significantly increases the volatility of hybrid politics and informational uncertainty for political actors. Our empirical analysis is based on seventy-one semistructured interviews with journalists in Lebanon and Tunisia conducted between 2016 and 2019. The material reveals a broad range of strategies used by journalists who employ the internal contradictions of hybrid politics to pursue their own agenda. The comparison between Lebanon and Tunisia also highlights contextual conditions that enable, or limit, journalistic agency, such as clientelistic dependencies, economic resources, and civil society alliances.
Efficacy of the use of unaffected hand containment in unimanual intensive therapy to increase visuomotor coordination in children with hemiplegia: a randomized controlled pilot study
Authors: Palomo-Carrión Rocío , Bravo-Esteban Elisabeth , Ando-La Fuente Sara , López-Muñoz Purificación , Martínez-Galán Inés , Romay-Barrero Helena
Published: March 2021

Background:

The capacity of children with hemiplegia to be engaged in anticipatory action planning is affected. There is no balance among spatial, proprioceptive and visual information, thus altering the affected upper limb visuomotor coordination. The objective of the present study was to assess the improvement in visuomotor coordination after the application of a unimanual intensive therapy program, with the use of unaffected hand containment compared with not using unaffected hand containment.

Methods:

A simple blind randomized clinical trial was realized. A total of 16 subjects with congenital infantile hemiplegia participated in the study with an age mean of 5.54 years old (SD:1.55). Two intensive protocols for 5 weeks of modified constraint-induced movement therapy (mCIMT) or unimanual therapy without containment (UTWC) were executed 5 days per week (2 h/day). Affected upper limb visuomotor coordination (reaction time, task total time, active range, dynamic grasp) was measured before–after intensive therapy using a specific circuit with different slopes (10°/15°).

Results:

Statistically significant inter-group differences were found after the intervention, with clinically relevant results for the mCIMT group not seen in UTWC, in the following variables: reaction time 10°slope ( p = 0.003, d = 2.44), reaction time 15°slope ( p = 0.002, d = 2.15) as well as for the task total time 10°slope ( p = 0.002, d = 2.25), active reach 10°slope ( p = 0.002, d = 2.7), active reach 15°slope ( p = 0.003, d = 2.29) and dynamic grasp 10°/15°slopes ( p = <0.001, d = 2.69). There were not statistically significant inter-group differences in the total task time with 15°slope ( p = 0.074, d = 1.27).

Conclusions:

The use of unaffected hand containment in mCIMT would allow improvements in the affected upper limb’s visuomotor coordination. Thus, it would favor clinical practice to make decisions on therapeutic approaches to increase the affected upper limb functionality and action planning in children diagnosed with infantile hemiplegia (4–8 years old).
Duplex ultrasound in the evaluation of venous and arterial thoracic outlet syndrome
Authors: Hu Jian , Biederman Robert , Kashyap Kartikeya , Wilson John Travis , Farah Victor , Franco Todd , Nguyen Vinh
Published: March 2021

Lesson

We are reporting a case of thoracic outlet syndrome and the value of duplex in the diagnosis of this syndrome.
Comparison of continuous and single interscalene block for quality of recovery score following arthroscopic rotator cuff repair
Authors: Yun Sangwon , Jo Yumin , Sim Seojin , Jeong Kuhee , Oh Chahyun , Kim Byungmuk , Lee Woo-Yong , Park Seyeon , Kim Yoon-Hee , Ko Youngkwon , Chung Woosuk , Hong Boohwi
Published: March 2021

Background:

Continuous interscalene brachial plexus block (CISB) is well known to reduce postoperative pain and to improve patient satisfaction. However, the effect of CISB on the quality of postoperative recovery is unknown. We Compared the quality of recovery from arthroscopic rotator cuff repair in patients who received CISB or single interscalene brachial plexus block (SISB).

Methods:

This prospective non-randomized controlled trial with propensity score matching enrolled 134 patients undergoing arthroscopic surgery for rotator cuff repair. Each patient received an interscalene block before surgery. One group had a catheter insertion 30 min after the end of surgery and started patient-controlled regional analgesia (PCRA, n = 49). The other group received intravenous patient-controlled analgesia (IV-PCA, n = 85). The primary outcome was the quality of recovery (QoR-40) score. Also, postoperative analgesia, sleep quality, and postoperative complications were evaluated.

Results:

The two groups had similar QoR-40 score on postoperative day-1 (POD1), but the PCRA group had a significantly greater QoR-40 score on POD2 (156.0, IQR: 143.0, 169.0 vs. 171.0, IQR: 159.0, 178.0; p < 0.001). The IV-PCA group received more analgesics during the 2 days after surgery, especially during night-time, and had a higher prevalence of sleep disturbances. The time to first additional analgesics request was significantly longer in PCRA group (14 hours, 95% CI: 13–16 vs. 44 hours, 95% CI: 28–not applicable). The incidence of postoperative nausea and vomiting significantly lower in the PCRA group (16.3% vs 46.9%, p = 0.002).

Conclusion:

CISB showed a higher quality of recovery score than SISB with IV-PCA in arthroscopic rotator cuff repair, probably related to the effective analgesia, improved sleep quality, and reduced opioid-related complications.
A Comparison of Environment Classification Among Premium Hearing Instruments
Authors: Yellamsetty Anusha , Ozmeral Erol J. , Budinsky Robert A. , Eddins David A.
Published: March 2021

Hearing aids classify acoustic environments into multiple, generic classes for the purposes of guiding signal processing. Information about environmental classification is made available to the clinician for fitting, counseling, and troubleshooting purposes. The goal of this study was to better inform scientists and clinicians about the nature of that information by comparing the classification schemes among five premium hearing instruments in a wide range of acoustic scenes including those that vary in signal-to-noise ratio and overall level (dB SPL). Twenty-eight acoustic scenes representing various prototypical environments were presented to five premium devices mounted on an acoustic manikin. Classification measures were recorded from the brand-specific fitting software then recategorized to generic labels to conceal the device company, including (a) Speech in Quiet, (b) Speech in Noise, (c) Noise, and (d) Music. Twelve normal-hearing listeners also classified each scene. The results revealed a variety of similarities and differences among the five devices and the human subjects. Where some devices were highly dependent on input overall level, others were influenced markedly by signal-to-noise ratio. Differences between human and hearing aid classification were evident for several speech and music scenes. Environmental classification is the heart of the signal processing strategy for any given device, providing key input to subsequent decision-making. Comprehensive assessment of environmental classification is essential when considering the cost of signal processing errors, the potential impact for typical wearers, and the information that is available for use by clinicians. The magnitude of differences among devices is remarkable and to be noted.
Returns to Educational and Occupational Attainment in Cognitive Performance for Middle-Aged South Korean Men and Women
Authors: Ford Katherine J. , Leist Anja K.
Published: March 2021

Background: Gender differences in late middle-age cognitive performance may be explained by differences in educational or occupational attainment rates, or gender-patterned returns of similar education and occupation to cognitive reserve. We tested these competing hypotheses in the historically highly gender unequal context of South Korea. Methods: Data came from the 2006 wave of the Korean Longitudinal Study of Aging. We included adults aged 45–65 years. Using quantile regression decompositions, we decomposed cognitive performance differences across quantiles into differences due to rates of educational and occupational attainment and differences due to divergent returns to those characteristics. Results: Gender-based cognitive performance differences across deciles were driven by differences in rates of educational and occupational attainment, while the returns to these characteristics were similar for both genders. Conclusions: Findings suggest that educational and occupational characteristics contribute to cognitive performance similarly in men and women, but discordant rates of these characteristics contribute to performance gaps.
High-performance work practices, socioemotional wealth preservation, and family firm labor productivity*
Authors: Hernández-Linares Remedios , López-Fernández María Concepción , Memili Esra , Mullins Frank , Patel Pankaj C
Published: March 2021

Despite growing research on the effect of high-performance work practices (HPWPs) on family firm performance, the implications of socioemotional wealth (SEW) preservation remain ambiguous. This stems from SEW preservation being used primarily as an explanatory construct and assessed indirectly rather than directly in empirical studies. To address this research gap, we draw upon organizational control and signaling theories to determine the “true” interaction between HPWPs and SEW preservation for labor productivity. Specifically, competing hypotheses are presented to determine if this interaction supports complementarity or substitutability. Using a sample of 124 Spanish family firms and a direct measurement of SEW preservation, our results provide support for substitutability, suggesting that family firms can realize higher labor productivity when HPWPs are fully implemented and commitment to SEW preservation is low, and vice versa. These findings have important implications for family firms, given HPWPs’ inverse relationship with SEW preservation regarding labor productivity.

JEL CLASSIFICATION

J24, L20, L21, L26, M12_M12, M54_M54, O15
A new approach to develop large-scale land-use models using publicly available data
Authors: Samani Ali R , Mishra Sabyasachee , Lee David J-H , Golias Mihalis M , Everett Jerry
Published: March 2021

Developing a land-use model for large-scale cases is a topic that has received less attention in the literature, while it is crucial for transportation engineers and urban planners to analyze the effect of various policies in multi-jurisdiction metropolitan areas and to some extent on a statewide scale. While gravity-based models are too simplistic, microsimulation models require extensive data and massive computation. This paper presents a land-use model that can be applied to large-scale geographies using publicly available data and be able to forecast demographic and socioeconomic attributes with reasonable accuracy and acceptable computational time. The proposed model incorporates Putman’s Integrated Transportation–Land-Use Package (ITLUP) and Kockelman’s Gravity-based Land-Use Model (G-LUM) fundamentals with enhanced formulation of newly added variables and structural changes. Considering the nonconvex and nonlinear nature of the proposed model, we utilize an enhanced genetic algorithm for base year calibration. Further, we assess the accuracy of the model with backcasting validation. We utilize the state of Tennessee as the case study area and utilized all open-source data available to the model application. The model results show reasonably accurate estimates of households by size, employment by industry, and land utilization by condition. As applicable, the model outperforms G-LUM by accuracy ( R2 and Percentage of Good Prediction ( PGP)) and error measures (Mean Absolute Percentage Error ( MAPE)). The proposed land-use model has the potential to be applied for medium to large-scale geographies with reasonable accuracy in predicting socioeconomic, demographic, and land condition estimates by using publicly available data.
Proteomics of serum extracellular vesicles identifies a novel COPD biomarker, fibulin-3 from elastic fibres
Authors: Koba Taro , Takeda Yoshito , Narumi Ryohei , Shiromizu Takashi , Nojima Yosui , Ito Mari , Kuroyama Muneyoshi , Futami Yu , Takimoto Takayuki , Matsuki Takanori , Edahiro Ryuya , Nojima Satoshi , Hayama Yoshitomo , Fukushima Kiyoharu , Hirata Haruhiko , Koyama Shohei , Iwahori Kota , Nagatomo Izumi , Suzuki Mayumi , Shirai Yuya , Murakami Teruaki , Nakanishi Kaori , Nakatani Takeshi , Suga Yasuhiko , Miyake Kotaro , Shiroyama Takayuki , Kida Hiroshi , Sasaki Takako , Ueda Koji , Mizuguchi Kenji , Adachi Jun , Tomonaga Takeshi , Kumanogoh Atsushi
Published: March 2021

There is an unmet need for novel biomarkers in the diagnosis of multifactorial COPD. We applied next-generation proteomics to serum extracellular vesicles (EVs) to discover novel COPD biomarkers.

EVs from 10 patients with COPD and six healthy controls were analysed by tandem mass tag-based non-targeted proteomics, and those from elastase-treated mouse models of emphysema were also analysed by non-targeted proteomics. For validation, EVs from 23 patients with COPD and 20 healthy controls were validated by targeted proteomics.

Using non-targeted proteomics, we identified 406 proteins, 34 of which were significantly upregulated in patients with COPD. Of note, the EV protein signature from patients with COPD reflected inflammation and remodelling. We also identified 63 upregulated candidates from 1956 proteins by analysing EVs isolated from mouse models. Combining human and mouse biomarker candidates, we validated 45 proteins by targeted proteomics, selected reaction monitoring. Notably, levels of fibulin-3, tripeptidyl-peptidase 2, fibulin-1, and soluble scavenger receptor cysteine-rich domain-containing protein were significantly higher in patients with COPD. Moreover, six proteins; fibulin-3, tripeptidyl-peptidase 2, UTP-glucose-1-phosphate uridylyl transferase, CD81, CD177, and oncoprotein-induced transcript 3, were correlated with emphysema. Upregulation of fibulin-3 was confirmed by immunoblotting of EVs and immunohistochemistry in lungs. Strikingly,fibulin-3knockout mice spontaneously developed emphysema with age, as evidenced by alveolar enlargement and elastin destruction.

We discovered potential pathogenic biomarkers for COPD using next-generation proteomics of EVs. This is a novel strategy for biomarker discovery and precision medicine.
Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome
Authors: Wilson Kathleen E. , Fish Ari M. , Mankiw Catherine , Xenophontos Anastasia , Warling Allysa , Whitman Ethan , Clasen Liv , Torres Erin , Blumenthal Jonathan , Raznahan Armin
Published: March 2021

Background

Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome—a sex chromosome aneuploidy that is known to increase risk for psychopathology.

Methods

We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n= 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits.

Results

Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R2~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring.

Conclusions

We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders.

Trial registrations

ClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989.
Intergenerational mobility and self-selection on unobserved skills: New evidence
Authors: Hebsaker Michael , Neidhöfer Guido , Pfeiffer Friedhelm
Published: March 2021

This study proposes a novel way to examine self-selection on unobserved skills and applies it to a sample of young males seeking asylum in 2015/2016 in Germany. First, the degree of intergenerational mobility of these refugees is assessed, specifically their educational improvement in comparison to their parents’ level of education. Next, the estimates are compared with the level of educational mobility of similar-aged males in the refugees’ regions of origin. The idea is that this difference indicates the pattern of self-selection on unobserved skills such as grit and motivation. Our findings hint at positive selection on such unobserved skills among these young male refugees.
CytoTree: an R/Bioconductor package for analysis and visualization of flow and mass cytometry data
Authors: Dai Yuting , Xu Aining , Li Jianfeng , Wu Liang , Yu Shanhe , Chen Jun , Zhao Weili , Sun Xiao-Jian , Huang Jinyan
Published: March 2021

Background

The rapidly increasing dimensionality and throughput of flow and mass cytometry data necessitate new bioinformatics tools for analysis and interpretation, and the recently emerging single-cell-based algorithms provide a powerful strategy to meet this challenge.

Results

Here, we present CytoTree, an R/Bioconductor package designed to analyze and interpret multidimensional flow and mass cytometry data. CytoTree provides multiple computational functionalities that integrate most of the commonly used techniques in unsupervised clustering and dimensionality reduction and, more importantly, support the construction of a tree-shaped trajectory based on the minimum spanning tree algorithm. A graph-based algorithm is also implemented to estimate the pseudotime and infer intermediate-state cells. We apply CytoTree to several examples of mass cytometry and time-course flow cytometry data on heterogeneity-based cytology and differentiation/reprogramming experiments to illustrate the practical utility achieved in a fast and convenient manner.

Conclusions

CytoTree represents a versatile tool for analyzing multidimensional flow and mass cytometry data and to producing heuristic results for trajectory construction and pseudotime estimation in an integrated workflow.
WALTER: an easy way to online evaluate telomere lengths from terminal restriction fragment analysis
Authors: Lyčka Martin , Peska Vratislav , Demko Martin , Spyroglou Ioannis , Kilar Agata , Fajkus Jiří , Fojtová Miloslava
Published: March 2021

Background

Telomeres, nucleoprotein structures comprising short tandem repeats and delimiting the ends of linear eukaryotic chromosomes, play an important role in the maintenance of genome stability. Therefore, the determination of the length of telomeres is of high importance for many studies. Over the last years, new methods for the analysis of the length of telomeres have been developed, including those based on PCR or analysis of NGS data. Despite that, terminal restriction fragment (TRF) method remains the gold standard to this day. However, this method lacks universally accepted and precise tool capable to analyse and statistically evaluate TRF results.

Results

To standardize the processing of TRF results, we have developed WALTER, an online toolset allowing rapid, reproducible, and user-friendly analysis including statistical evaluation of the data. Given its web-based nature, it provides an easily accessible way to analyse TRF data without any need to install additional software.

Conclusions

WALTER represents a major upgrade from currently available tools for the image processing of TRF scans. This toolset enables a rapid, highly reproducible, and user-friendly evaluation of almost any TRF scan including in-house statistical evaluation of the data. WALTER platform together with user manual describing the evaluation of TRF scans in detail and presenting tips and troubleshooting, as well as test data to demo the software are available at https://www.ceitec.eu/chromatin-molecular-complexes-jiri-fajkus/rg51/tab?tabId=125#WALTER and the source code at https://github.com/mlyc93/WALTER.
Datura genome reveals duplications of psychoactive alkaloid biosynthetic genes and high mutation rate following tissue culture
Authors: Rajewski Alex , Carter-House Derreck , Stajich Jason , Litt Amy
Published: March 2021

Background

Datura stramonium(Jimsonweed) is a medicinally and pharmaceutically important plant in the nightshade family (Solanaceae) known for its production of various toxic, hallucinogenic, and therapeutic tropane alkaloids. Recently, we published a tissue-culture based transformation protocol forD. stramoniumthat enables more thorough functional genomics studies of this plant. However, the tissue culture process can lead to undesirable phenotypic and genomic consequences independent of the transgene used. Here, we have assembled and annotated a draft genome ofD. stramoniumwith a focus on tropane alkaloid biosynthetic genes. We then use mRNA sequencing and genome resequencing of transformants to characterize changes following tissue culture.

Results

Our draft assembly conforms to the expected 2 gigabasepair haploid genome size of this plant and achieved a BUSCO score of 94.7% complete, single-copy genes. The repetitive content of the genome is 61%, withGypsy-type retrotransposons accounting for half of this. Our gene annotation estimates the number of protein-coding genes at 52,149 and shows evidence of duplications in two key alkaloid biosynthetic genes, tropinone reductase I and hyoscyamine 6 β-hydroxylase. Following tissue culture, we detected only 186 differentially expressed genes, but were unable to correlate these changes in expression with either polymorphisms from resequencing or positional effects of transposons.

Conclusions

We have assembled, annotated, and characterized the first draft genome for this important model plant species. Using this resource, we show duplications of genes leading to the synthesis of the medicinally important alkaloid, scopolamine. Our results also demonstrate that following tissue culture, mutation rates of transformed plants are quite high (1.16 × 10− 3mutations per site), but do not have a drastic impact on gene expression.
Lessons learned from reviewing a hospital’s disaster response to the hydrofluoric acid leak in Gumi city in 2012
Authors: Shin Heejun , Oh Se Kwang , Lee Han You , Chung Heajin , Yoon Seong Yong , Choi Sung Yong , Kim Jae Hyuk
Published: March 2021

Background

This study analyzed the characteristics of hydrogen fluoride-exposed patients (HFEPs) treated in the emergency department (ED) of a local university hospital, and reviewed the hospital’s disaster response according to space, staff, supplies, and systems (4Ss).

Methods

This retrospective observational chart review and descriptive study included 199 HFEPs among 2588 total ED patients who visited a local university emergency medical center for treatment between September 27, 2012 and October 20, 2012, following a hydrofluoric acid leak at the Hube Globe factory in Gumi City, Republic of Korea. Descriptive results concerning the 4Ss were obtained by interviewing ED specialist staff physicians on duty during the study period. In accordance with American Burn Association criteria, patients requiring burn center referral were assigned to the major burn group (MBG) as severe condition.

Results

During the acute phase (within 8 h after leak initiation), there were 43 patients in the ED, which was staffed with 3 doctors and 3 nurses, without 4S resources. Of these 43 patients, there were 8 HFEPs (100%) in the MBG and 0 in the non-MBG (NMBG). During the subacute phase (24 h after the acute phase), there were 262 patients in the ED including 167 HFEPs, of whom 45 (26.95%) were in the MBG and 122 (73.05%) were in the NMBG. The ED was then staffed with 6 doctors (3 on day shift and 3 on night shift) and 10 nurses (3 on day shift, 4 on evening shift, and 3 on night shift), and no 4S resources were available. Throughout the study period, no 4Ss were available. First, there was no expansion of ED space or secured disaster reserve beds. Second, there was no increase in manpower with duty time adjustments or duty relocation for ED working personnel. Third, there was no logistics reinforcement (e.g., antidote or personal protective equipment). Fourth, there were no disaster-related measures for the administration department, decontamination zone setup, safety diagnostic testing, or designated disaster triage implementation.

Conclusions

The hospital’s disaster response was insufficient for all aspects of the 4Ss. Detailed guidance concerning a hospital disaster management plan is required.
Health-related quality of life, functional decline, and long-term mortality in older patients following hospitalisation due to COVID-19
Authors: Walle-Hansen M. M. , Ranhoff A. H. , Mellingsæter M. , Wang-Hansen M. S. , Myrstad M.
Published: March 2021

Background

Older people are particularly vulnerable to severe COVID-19. Little is known about long-term consequences of COVID-19 on health-related quality of life (HR-QoL) and functional status in older people, and the impact of age in this context. We aimed to study age-related change in health-related quality of life, functional decline and mortality among older patients 6 months following hospitalisation due to COVID-19.

Methods

This was a cohort study including patients aged 60 years and older admitted to four general hospitals in South-Eastern Norway due to COVID-19, from March 1 up until July 1, 2020. Patients who were still alive were invited to attend a six-month follow-up. Change in HR-QoL and functional status compared to before the COVID-19 hospitalisation were assessed using the EuroQol 5-dimensional-5 levels questionnaire (EQ. 5D-5L). A change in visual analogue scale (VAS) score of 7 or more was considered clinically relevant.

Results

Out of 216 patients aged 60 years and older that were admitted to hospital due to COVID-19 during the study period, 171 were still alive 180 days after hospital admission, and 106 patients (62%) attended the six-month follow-up. Mean age was 74.3 years, 27 patients (26%) had experienced severe COVID-19. Fifty-seven participants (54%) reported a decrease in the EQ. 5D-5L VAS score after 6 months, with no significant difference between persons aged 75 years and older compared to younger. Seventy participants (66%) reported a negative change in any of the dimensions of the EQ. 5D-5L, with impaired ability to perform activities of daily life (35%), reduced mobility (33%) and having more pain or discomfort (33%) being the most commonly reported changes. Forty-six participants (43%) reported a negative change in cognitive function compared to before the COVID-19 hospitalisation. Six-month mortality was 21%, and increased with increasing age.

Conclusions

More than half of the patients reported a negative change in HR-QoL 6 months following hospitalisation due to COVID-19, and one out of three experienced a persistently impaired mobility and ability to carry out activities of daily living. The results suggest awareness of long-term functional decline in older COVID-19 patients.
Rate of central corneal thickness changes in primary angle closure eyes: long-term follow-up results
Authors: Park Hae Min , Choi Jiin , Lee Won June , Uhm Ki Bang
Published: March 2021

Background

Central corneal thickness (CCT) and its association with intraocular pressure, which is a pivotal parameter in glaucoma management, has previously been reported. In this study, we intended to investigate the long-term change of CCT in terms of rate in eyes with primary angle-closure (PAC). Additionally, we aimed to analyze events that could affect CCT.

Methods

In this retrospective study, 26 patients with PAC who had a follow-up period of more than 5 years were analyzed. The rate of CCT changes from baseline was evaluated from the serial CCT measurements over the average follow-up period. The pattern of CCT change rate according to modes of treatment and history of angle-closure attack was analyzed using the repeated linear mixed model analysis.

Results

A total of 52 eyes were enrolled. The CCT reduction rate of the entire study population was − 0.72 ± 0.22 μm/yr (P = 0.001) with statistical significance. The CCT thinning rate of the laser peripheral iridotomy (PI) group was − 0.53 ± 0.25 μm/yr (P = 0.034) and that of the surgical trabeculectomy group was − 1.32 ± 0.43 μm/yr (P = 0.002), and it was not statistically significant (P = 0.112). The rate of CCT thinning in patients with a history of acute angle-closure attack was − 0.81 ± 0.31 μm/yr (P = 0.009) and that in patients without an attack was − 0.63 ± 0.30 μm/yr (P = 0.001), and it was not statistically significant (P = 0.680). Baseline CCT appeared to be the only significant factor affecting the rate of CCT changes (P < 0.001).

Conclusions

We found a significant reduction in CCT over a long observation period in PAC eyes. We also found that the rates of CCT reduction were not affected by different treatment modalities or acute angle-closure attacks. The analysis of long-term CCT changes in conjunction with baseline CCT would also be helpful in the clinical evaluation of the PAC patients.
Radiological and functional lung sequelae of COVID-19: a systematic review and meta-analysis
Authors: So Matsuo , Kabata Hiroki , Fukunaga Koichi , Takagi Hisato , Kuno Toshiki
Published: March 2021

Background

The coronavirus disease 2019 (COVID-19) causes a wide spectrum of lung manifestations ranging from mild asymptomatic disease to severe respiratory failure. We aimed to clarify the characteristics of radiological and functional lung sequelae of COVID-19 patients described in follow-up period.

Method

PubMed and EMBASE were searched on January 20th, 2021 to investigate characteristics of lung sequelae in COVID-19 patients. Chest computed tomography (CT) and pulmonary function test (PFT) data were collected and analyzed using one-group meta-analysis.

Results

Our search identified 15 eligible studies with follow-up period in a range of 1–6 months. A total of 3066 discharged patients were included in these studies. Among them, 1232 and 1359 patients were evaluated by chest CT and PFT, respectively. The approximate follow-up timing on average was 90 days after either symptom onset or hospital discharge. The frequency of residual CT abnormalities after hospital discharge was 55.7% (95% confidential interval (CI) 41.2–70.1, I2 = 96.2%). The most frequent chest CT abnormality was ground glass opacity in 44.1% (95% CI 30.5–57.8, I2 = 96.2%), followed by parenchymal band or fibrous stripe in 33.9% (95% CI 18.4–49.4, I2 = 95.0%). The frequency of abnormal pulmonary function test was 44.3% (95% CI 32.2–56.4, I2 = 82.1%), and impaired diffusion capacity was the most frequently observed finding in 34.8% (95% CI 25.8–43.8, I2 = 91.5%). Restrictive and obstructive patterns were observed in 16.4% (95% CI 8.9–23.9, I2 = 89.8%) and 7.7% (95% CI 4.2–11.2, I2 = 62.0%), respectively.

Conclusions

This systematic review suggested that about half of the patients with COVID-19 still had residual abnormalities on chest CT and PFT at about 3 months. Further studies with longer follow-up term are warranted.
Necessity of sentinel lymph node biopsy in ductal carcinoma in situ patients: a retrospective analysis
Authors: Shin Young Duck , Lee Hyung-Min , Choi Young Jin
Published: March 2021

Background

Sentinel lymph node biopsy (SLNB) is unnecessarily performed too often, owing to the high upstaging rates of ductal carcinoma in situ (DCIS). This study aimed to evaluate the upstaging rates of DCIS to invasive cancer, determine the prevalence of axillary lymph node metastasis, and identify the clinicopathological factors associated with upstaging and lymph node metastasis. We also examined surgical patterns among DCIS patients and determined whether SLNB guidelines were followed.

Methods

We retrospectively analysed 307 consecutive DCIS patients diagnosed by preoperative biopsy in a single centre between 2014 and 2018. Data from clinical records, including imaging studies, axillary and breast surgery types, and pathology results from preoperative and postoperative biopsies, were extracted. Univariate analyses using Chi-square tests and multiple logistic regression analyses were used to analyse the data.

Results

The rate of upstaging to invasive cancer was 19.2% (59/307). DCIS diagnosed by core-needle biopsy (odds ratio [OR]: 6.861, 95% confidence interval [CI]: 2.429–19.379), the presence of ultrasonic mass-forming lesions (OR: 2.782, 95% CI: 1.224–6.320), and progesterone receptor-negative status (OR: 3.156, 95% CI: 1.197–8.323) were found to be associated with upstaging. The rate of sentinel lymph node metastasis was only 1.9% (4/202), and all were total mastectomy patients diagnosed by core-needle biopsy. SLNB was performed in 37.2% of 145 breast-conserving surgery patients and 91.4% of 162 total mastectomy patients. Among the 202 patients who underwent SLNB, 145 (71.7%) without invasive cancer on final pathology had redundant SLNB. Two of 59 patients (3.4%) with disease upstaged to invasive cancer had inadequate primary staging of the axilla, as the rate seemed sufficiently small.

Conclusions

In patients with a preoperative diagnosis of DCIS, although an unavoidable possibility of upstaging to invasive cancer exists, axillary metastasis is unlikely. Only 2.7% of patients with DCIS undergoing total mastectomy were found to have sentinel lymph node metastases. SLNB should not be performed in breast-conserving surgery patients and should be reserved only for total mastectomy patients diagnosed by core-needle biopsy.