bluuebunny/crossref_metadata_2025 huggingface dataset:
Occupation’s Role in Inclusion of Spanish-Speaking Older Adults in a Senior Center
Authors: Lavalley Ryan
Published: May 2022

Occupation-based literature has not explored the specific community-level occupational processes that support inclusion or exclusion of Latine older adults in senior centers. This study examined occupation at the community level and its role in the inclusion or exclusion of older adult Spanish speakers in a senior center community. In addition, it sought to examine potential roles for occupational therapy practice in this realm. A 6-month ethnographic study used interviews, observations, document review, group mapping activities, and collaborative analysis to explore occupation of a senior center as the community and staff welcomed older adult Spanish speakers. Being culturally proactive, considering values and interests, offering regular activities, and cross-group doing together encouraged cohesion and communal habits of inclusion. These tailored modes of community occupation benefit Spanish-speaking older adults. Occupational therapy practitioners have opportunities to utilize tailored community occupations to support community inclusion and cohesion for this population.
The Impact of Homemade Laparoscopic Box Trainers on Medical Student Surgical Skills: A Randomized Control Pilot Study
Authors: Seltzer Harrison , Swayze Emma , Thottathil Letty , Dewey John , Jabara Jordan , Mehta Aditya , Frederick John , Yousif Paul , Parikh Sonia , Tsuei Angie , Miller Lisa , Linares L Silvia
Published: May 2022

Objective: While instructional videos are commonly used in surgical education, there is a paucity of data on home laparoscopic box trainers. This pilot study evaluated impacts of augmenting instructional videos with these devices. Design: This was a randomized controlled pilot study evaluating laparoscopic surgical performance on the LapSim virtual surgical simulator before and after a 2 week curriculum of instructional videos alone (n = 8, 47.1%) vs videos plus a home laparoscopic box trainer (n = 9, 52.9%). The LapSim recorded mistake number, time, and instrument path length to complete each task. Participants completed surveys about their perceptions of surgery before and after the course. Participants: Preclinical medical students were recruited. Those with extensive surgical experience or did not complete the course were excluded. Results: For the box trainer group vs the videos alone group: mean change in mistakes was −10.0 (standard deviation [SD]:17.1) vs +.5 (SD:21.59) ( P = .28); mean change in time was −433.24 (SD:304.67) seconds vs −366.16 (SD:240.10) seconds ( P = .62); mean change in instrument path length was −4.27 (SD:4.38) meters vs −3.19 (SD:4.86) meters ( P = .64). The box trainer group ranked “I feel as though surgery comes naturally” 1.58 points higher (95% confidence interval [CI]: .85, 2.32; P < .01) and “I am worried about being skilled at surgery” 1.26 points lower (95% CI: 2.29, −.24; P = .02) upon completing the study. The videos alone group reported no significant changes in survey responses. Conclusion: Home laparoscopic box trainers can generate confidence and reduce anxiety regarding surgical fields. This study provides a framework for future larger scale works.
Fictional politainment: Exposure to international television drama and attitude toward female politicians
Authors: Rasul Azmat , Shin Donghee , Beede Park
Published: May 2022

We examine the relationship between media use motivations and attitudes toward female politicians by proposing a conceptual model explaining the role of key mediating variables such as identification, narrative transportation, enjoyment, and political self-efficacy in influencing the attitude of the viewers of international TV drama towards female role models (politicians). We investigated the direct and indirect effects between media use motivations and attitudes toward female politicians by recruiting 359 students from two large public universities in the Southeastern United States. The hypothesized model supported the evidence presented in extant scholarship, suggesting that a meaningful entertainment experience could foster an appreciation of the fictional televisual entertainment and positively change attitudes toward female lead characters playing the role of a viable and competent politician. This study resonates with politicians, academics, and activists’ concerns that a positive media portrayal could promote the acceptability of female leaders in powerful positions. Our study clarifies the direct and indirect effects between media use motivations and attitudes toward female politicians and the role of crucial mediating variables such as identification, narrative transportation, enjoyment, and political self-efficacy in influencing the attitude of the viewers of international TV drama towards female politicians.
Normative values for internal and external glenohumeral rotation strength in rugby players: A systematic review with meta-analysis
Authors: Rogowski I , Degot M , Hager JP , Del Moral B , Cardot N , Loursac R , Blache Y , Neyton L
Published: May 2022

This systematic review aims to provide normative values for internal and external glenohumeral rotation strength in rugby players. From the inception to March 2021, the search strategy was (strength OR torque) AND shoulder AND rugby using PubMed, Scopus, Web of Science, and SPORTDiscus databases, with no language restrictions. This systematic review includes 15 articles involving 573 rugby players and presenting internal or external glenohumeral rotation strength values. Two main methods are used to assess glenohumeral rotation strength in rugby players: isokinetic and isometric methods; in the isometric method, the upper arm is abducted at either 0° or 90°. Owing to differences in isokinetic procedures and a lack of studies assessing isometric strength when the upper arm is in a neutral position, normative internal or external glenohumeral rotation strength values are only provided for isometric contractions when the upper arm is abducted at 90° based on 311 shoulders of 163 male rugby union players, with 2.04 ± 0.15 N.kg−1 and 2.11 ± 0.13 N.kg−1 for internal and external glenohumeral rotation strength, respectively. These findings may help strength and conditioning coaches and physical therapists, provide objective evidence when deciding whether or not rugby union players should return to sport.
Children’s memories of starting school: Building and sharing transitions capital
Authors: Schürer Maja Højslet , Dockett Sue , Perry Bob
Published: May 2022

This paper explores memories of children in the upper years of primary school about their transition into the first year of school and the ways in which this transition impacted on their ongoing relationship with primary school. The insights shared by eleven Year four and five students (aged 10–11 years; five boys and six girls) in an Australian primary school contribute to understandings of the strategies children develop and utilise in their educational transitions (transitions capital), not only in the transition to school but also in ongoing educational transitions throughout school. The older children reflected on their younger selves related to transitions expectations, and experiences and illustrated their strategies for self-management of change, positioning them as potential resources within transition programs. Despite this, the participants reported that their expertise and experience generally were not acknowledged, and they were often not invited to contribute to transition programs involving new school entrants.
Changes of circulating biomarkers of inflammation and glycolipid metabolism by CPAP in OSA patients: a meta-analysis of time-dependent profiles
Authors: Wang Yi , Lin Ying Ni , Zhang Li Yue , Li Chuan Xiang , Li Shi Qi , Li Hong Peng , Zhang Liu , Li Ning , Yan Ya Ru , Li Qing Yun
Published: May 2022

Background:

Continuous positive airway pressure (CPAP) is the first-line therapy for moderate-to-severe obstructive sleep apnea (OSA). Specifying timing of CPAP benefits on OSA-related biomarkers will help to assess the effectiveness of CPAP and to optimize the treatment strategies.

Purpose:

To explore the time-dependent changes of circulating biomarkers to CPAP treatment in patients with OSA, including inflammatory biomarkers [C-reactive protein (CRP) and tumor necrosis factor–α (TNF-α)] and glycolipid metabolic biomarkers [fasting blood glucose (FBG), fasting insulin (FINS), low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), and triglyceride (TG)].

Methods:

Searches of PubMed and Embase database were completed. Two independent reviewers extracted data from 68 included studies. A meta-analysis was conducted using a random-effect (or fixed-effect) model and standardized mean difference (SMD) model. The timing profiles of circulating biomarkers changes of inflammation and glycolipid metabolism were analyzed based on different CPAP duration, that is, short-term (<3 months), mid-term (3–6 months), and long-term (⩾6 months).

Results:

Those first improved by short-term treatment include CRP [SMD: 0.73, 95% confidence interval (CI): 0.15–1.31; p = 0.014], TNF-α [SMD: 0.48 (95% CI: 0.10–0.86; p = 0.014)], FBG [SMD: 0.32 (95% CI: 0.07–0.57; p = 0.011)], and LDL [SMD: 0.40 (95% CI: 0.18–0.62; p = 0.000)]. Those first improved by the mid-term or long-term treatment include HDL [SMD: –0.20 (95% CI: –0.36 to –0.03; p = 0.018)] and TC [SMD: 0.20 (95% CI: 0.05–0.34; p = 0.007)]. There were insignificant changes for TG and FINS after short or long CPAP.

Conclusion:

Our results imply that changes of circulating biomarkers for patients with OSA under CPAP treatment have a time-dependent profile.
Greek teachers’ difficulties & opportunities in emergency distance teaching
Authors: Perifanou Maria , Economides Anastasios A , Tzafilkou Katerina
Published: May 2022

During the first months of the COVID-19 pandemic, most schools worldwide were closed and online teaching replaced face-to-face teaching. This study reports the results of a survey among 845 teachers of primary and secondary education in Greece who taught their students fully remotely during the pandemic lockdown. These Greek teachers expressed the difficulties that they faced as well as the opportunities that they gained during this emergency distance teaching (EDT). Through qualitative content analysis this study found that everyone (students, teachers, and state) involved in EDT faced various difficulties due to digital infrastructure’s inadequacy, limited support by the state, limited digital educational material, as well as low digital literacy of students, parents, and even some teachers. On the other hand, there were many opportunities for teachers to experiment and apply their prior training knowledge on distance education to EDT. More concretely, teachers managed not only to improve their teaching and digital skills, to enrich and organise their educational material with more interesting online educational resources, but also to collaborate with colleagues, and to maintain effective communication with students. Similarly, students had opportunities to improve their digital and soft skills and receive personalized teaching. However, some teachers believed that their workload and their available free time increased while other teachers believed the opposite. Also, some teachers believed that students’ participation and engagement increased while other teachers believed the opposite. Finally, the study suggests actions to be taken to support the teachers in EDT such as improvements in digital infrastructure, digital educational material, teachers’ training, as well as support and clear guidelines by the educational authorities.
A qualitative insight into children’s and care-givers’ experience following re-integration from Uganda’s residential care facilities into family-based care
Authors: Walakira Eddy J , Nnyombi Aloysious , Ssenfuuma James T , Kyamulabi Agnes , Kato Francis , Natukunda Helen PM , Lange Lyndsey , Oliver Daniel
Published: May 2022

This article aims to elevate children’s and caretakers’ voices in shaping reunification and reintegration planning and implementation. It takes into consideration, the priority for children to experience fulfilling and happy childhoods following reunification from residential care facilities (RCFs) to homebased care (HBC). The article is based on 23 children who were followed up, 12 months post reunification from RCFs into HBC in six districts within central Uganda, a region with the highest concentration of RCFs. We conducted 11 in-depth interviews with older children aged 8–13 years and 23 in-depth interviews from the caregivers, who also provided information on 12 children who on account of age (less than 8 years) could not be interviewed. The qualitative study was nested under a longitudinal study (Randomised Controlled Trial NCT03498469). This study has revealed positive experiences following re-unification of children with homebased caregivers such as; continuous and positive child-caregiver interactions which translated into trusting and loving relationships and bonding between children and caregivers; improved parenting practices characterised by warmth and responsiveness to children’s physical, emotional and material needs and less reliance on harsh disciplinary practices; and social reintegration exemplified by children forging positive relationships with family and community members and their active participation in ongoing social activities. Yet the voices that perceived reunification negatively point to the overarching need to prioritise household welfare through economic strengthening efforts and other forms of provisioning and more crucially, ensuring children’s continued access to quality education as key ingredients in planning and implementing successful child reintegration efforts, including assuring children of happy and fulfilling childhoods.
Seminal vesicle abscess: A case report and review of the literature
Authors: Cotter Finín , Sathianathen Niranjan , Thevarajah Gowribahan , Kok Hong Kuan , Temelcos Catherine , Niall Owen , Sundaralingam Sudheshan
Published: May 2022

Seminal vesicle abscess (SVA) is a rare pathology. We review the literature and present the case of a 54-year-old presenting with an SVA treated successfully with percutaneous transgluteal drainage and subsequently, transrectal ultrasound (TRUS)-guided transrectal drainage.

Level of evidence: 4
Effects of Stimulation Position and Frequency Band on Auditory Spatial Perception with Bilateral Bone Conduction
Authors: Wang Jie , Lu Xikun , Sang Jinqiu , Cai Juanjuan , Zheng Chengshi
Published: May 2022

Virtual sound localization tests were conducted to examine the effects of stimulation position (mastoid, condyle, supra-auricular, temple, and bone-anchored hearing aid implant position) and frequency band (low frequency, high frequency, and broadband) on bone-conduction (BC) horizontal localization. Non-individualized head-related transfer functions were used to reproduce virtual sound through bilateral BC transducers. Subjective experiments showed that stimulation at the mastoid gave the best performance while the temple gave the worst performance in localization. Stimulation at the mastoid and condyle did not differ significantly from that using air-conduction (AC) headphones in localization accuracy. However, binaural reproduction at all BC stimulation positions led to similar levels of front-back confusion (FBC), which were also comparable to that with AC headphones. Binaural BC reproduction with high-frequency stimulation led to significantly higher localization accuracy than with low-frequency stimulation. When transcranial attenuation (TA) was measured, the attenuation became larger at the condyle and mastoid, and increased at high frequencies. The experiments imply that larger TAs may improve localization accuracy but do not improve FBC. The present study indicates that the BC stimulation at the mastoid and condyle can effectively convey spatial information, especially with high-frequency stimulation.
Effectiveness of Nurse-led Intervention on Quality of Life of Patients with Knee Osteoarthritis
Authors: Kangeswari Ponnu , Arulappan Judie
Published: May 2022

Knee osteoarthritis (KOA) is the most common type of arthritis affecting people of older age. The study assessed the effectiveness of nurse-led intervention on quality of life (QOL) of patients with KOA. A quasi-experimental pretest–posttest control group research design was adopted. Data was collected from 200 patients with KOA. The pre- and post-interventional QOL were assessed on the 15th day, 30th day, 60th day, and 90th day with a 36-item short-form health survey. A remarkable statistically significant improvement in QOL of patients with KOA in the study group was found in the IV test conducted on the 90th day ( P < .001). The study concluded that a 12 weeks’ nurse-led intervention has resulted in significant improvement in the QOL of patients with KOA.
The spontaneous rules of spontaneous development
Authors: Slaev Aleksandar D , Cozzolino Stefano , Nozharova Boriana , Ilieva Jetchka
Published: May 2022

This study contributes to the long but still heated debate on spontaneity in urban development. While the critics of spontaneity consider it synonymous with chaos, its proponents emphasise the benefits of spontaneous order. In this paper, we assume that spontaneous development may have both positive and negative aspects and we seek to identify what determines whether and to what extent spontaneity will produce a beneficial social/spatial order. The prevalence of advantages or disadvantages may be due to specific historical, geographical and social causes, but we emphasise one critically important factor: the presence of spontaneous social rules.

To contribute to this debate, we acknowledge the institutional nature of spontaneous rules and underscore the need for rules to develop over time. We examine three spontaneous developments in Plovdiv, Bulgaria’s second largest city. As these settlements are typical for spontaneous forms in Southeast Europe, we draw conclusions relevant primarily to this region, but also in wider contexts. We find that spontaneous rules’ development is what determines whether order emerges and to what degree its benefits are realised. The suitability of spontaneous rules depends on local cultures, habits and values rooted in society.
The Dalit Soldiers and the Colonial Apparatus: Lived Experiences of the Paraiyans in the Madras Presidency Army, 1801–1895
Authors: Dutta Manas
Published: May 2022

The article deals with the Paraiyans, one of the Dalit sub-caste of the Madras Presidency, and their transformation from a marginalized group to one which was believed to be one of the worthwhile recruits for the colonial army. The narrative delves on their exalted status as a military subaltern within the general set up of the army department and also traces their subsequent socio-political positions in the southern society under the colonial rule after the 1880s. Despite their primary dependence on agriculture for their survival, several of them preferred to be enlisted in the army under the colonial rule in India for better livelihood and social standing. The official/archival documents highlighted that the Madras Presidency army had given much benefit to them and became a source of their social occupational mobility. Thus, It has been given them a new sense of identity and power and their empowerment as a caste.
Making of the Sacred in India: Religious or Social Othering?
Authors: Gautam D. R.
Published: May 2022

Sacred in ecclesiastical terms is understood as something kept apart towards attainment of ‘real’ for the social group where real is transcendental. The group is generally considered as one unit, and, therefore, religion in this way becomes instrumental in attainment of higher end of all. Hinduism, when analysed as a religion, provides an epistemic reality of othering in the society and sacred text becomes basis for origin and continuation of peculiar social stratification in India. Looking in this way, Hinduism defies some universal characteristics assigned to the term ‘religion’, especially on the progressive count, and appears to be static and status quoist. This paper is an attempt to highlight such an aspect with the help of a meticulous and erudite analysis by Dr B. R. Ambedkar.
Effect of hydroxyapatite on physical, mechanical, and morphological properties of starch-based bio-nanocomposite films
Authors: Hadi Zohreh , Hekmat Neda , Soltanolkottabi Fariba
Published: May 2022

In this research, nanocomposite films based on starch were developed with the addition of hydroxyapatite nanoparticles as a mineral filler. Hydroxyapatite was synthesized by a chemical method using calcium nitrate and diammonium hydrogen phosphate. Various concentrations of hydroxyapatite nanoparticles were mixed with starch, and the developed films were evaluated in terms of physical, mechanical, and morphological properties. The highest values of mechanical parameters (tensile strength and elongation at break) were determined for the starch/hydroxyapatite film at 15 wt.% hydroxyapatite nanoparticles concentration (3.03 MPa, 37.41%, respectively). As hydroxyapatite concentration was increased from 0 to 20 wt.%, the solubility in water of the films decreased, whereas the solubility in acid increased. The crystalline structure of hydroxyapatite decreased the transparency of film and increased transparency value. Thus, a biodegradable film could be obtained with the addition of hydroxyapatite as a reinforcement filler up to 15 wt.%. It could be developed as a sustainable alternative for packaging industry.
Expansion of CD4dimCD8+ T cells characterizes macrophage activation syndrome and other secondary HLH
Authors: De Matteis Arianna , Colucci Manuela , Rossi Marianna N. , Caiello Ivan , Merli Pietro , Tumino Nicola , Bertaina Valentina , Pardeo Manuela , Bracaglia Claudia , Locatelli Franco , De Benedetti Fabrizio , Prencipe Giusi
Published: May 2022

CD8+ T-cell activation has been demonstrated to distinguish patients with primary and infection-associated hemophagocytic lymphohistiocytosis (HLH) from patients with early sepsis. We evaluated the activation profile of CD8+ T cells in patients with various forms of secondary HLH (sHLH), including macrophage activation syndrome (MAS). Peripheral blood mononuclear cells from children with inactive systemic juvenile idiopathic arthritis (sJIA, n = 17), active sJIA (n = 27), MAS in sJIA (n = 14), infection-associated HLH (n = 7), and with other forms of sHLH (n = 9) were analyzed by flow cytometry. Compared with patients with active sJIA, in patients with MAS and sHLH of different origins, beside a significant increase in the frequency of CD38high/HLA-DR+CD8+ T cells, we found a significant increase in the frequency of CD8+ T cells expressing the CD4 antigen (CD4dimCD8+ T cells). These cells expressed high levels of the activation markers CD38 and HLA-DR, suggesting they were a subset of CD38high/HLA-DR+CD8+ T cells, as well as of the activation/exhaustion markers CD25, PD1, CD95, and interferon-γ. The frequency of CD4dimCD8+ T cells strongly correlated with most of the laboratory parameters of MAS severity and with circulating levels of CXCL9 and interleukin-18. These findings were confirmed in a prospective replication cohort in which no expansion of any particular T-cell receptor Vβ family in CD3+ T cells of patients with sHLH was found. Finally, frequency of CD4dimCD8+, but not of CD38high/HLA-DR+CD8+ T cells, significantly correlated with a clinical severity score, further supporting the involvement of these cells in MAS/sHLH pathogenesis.
IFNγ regulates NAD+ metabolism to promote the respiratory burst in human monocytes
Authors: McCann Katelyn J. , Christensen Stephen M. , Colby Devon H. , McGuire Peter J. , Myles Ian A. , Zerbe Christa S. , Dalgard Clifton L. , Sukumar Gauthaman , Leonard Warren J. , McCormick Beth A. , Holland Steven M.
Published: May 2022

Interferon γ (IFNγ) is an essential and pleiotropic activator of human monocytes, but little is known about the changes in cellular metabolism required for IFNγ-induced activation. We sought to elucidate the mechanisms by which IFNγ reprograms monocyte metabolism to support its immunologic activities. We found that IFNγ increased oxygen consumption rates (OCR) in monocytes, indicative of reactive oxygen species generation by both mitochondria and nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Transcriptional profiling revealed that this oxidative phenotype was driven by IFNγ-induced reprogramming of NAD+ metabolism, which is dependent on nicotinamide phosphoribosyltransferase (NAMPT)-mediated NAD+ salvage to generate NADH and NADPH for oxidation by mitochondrial complex I and NADPH oxidase, respectively. Consistent with this pathway, monocytes from patients with gain-of-function mutations in STAT1 demonstrated higher-than-normal OCR, whereas chemical or genetic disruption of mitochondrial complex I (rotenone treatment or Leigh syndrome patient monocytes) or NADPH oxidase (diphenyleneiodonium treatment or chronic granulomatous disease [CGD] patient monocytes) reduced OCR. Interestingly, inhibition of NAMPT in healthy monocytes completely abrogated the IFNγ-induced oxygen consumption, comparable to levels observed in CGD monocytes. These data identify an IFNγ-induced, NAMPT-dependent, NAD+ salvage pathway that is critical for IFNγ activation of human monocytes.
Racial and ethnic differences in clonal hematopoiesis, tumor markers, and outcomes of patients with multiple myeloma
Authors: Peres Lauren C. , Colin-Leitzinger Christelle M. , Teng Mingxiang , Dutil Julie , Alugubelli Raghunandan R. , DeAvila Gabriel , Teer Jamie K. , Du Dongliang , Mo Qianxing , Siegel Erin M. , Hampton Oliver A. , Alsina Melissa , Brayer Jason , Blue Brandon , Baz Rachid , Silva Ariosto S. , Nishihori Taiga , Shain Kenneth H. , Gillis Nancy
Published: May 2022

Multiple myeloma (MM) incidence, mortality, and survival vary by race and ethnicity, but the causes of differences remain unclear. We investigated demographic, clinical, and molecular features of diverse MM patients to elucidate mechanisms driving clinical disparities. This study included 495 MM patients (self-reported Hispanic, n = 45; non-Hispanic Black, n = 52; non-Hispanic White, n = 398). Hispanic and non-Hispanic Black individuals had an earlier age of onset than non-Hispanic White individuals (53 and 57 vs 63 years, respectively, P < .001). There were no differences in treatment by race and ethnicity groups, but non-Hispanic Black patients had a longer time to hematopoietic cell transplant than non-Hispanic White patients (376 days vs 248 days; P = .01). Overall survival (OS) was improved for non-Hispanic Black compared with non-Hispanic White patients (HR, 0.50; 95% CI, 0.31-0.81; P = .005), although this association was attenuated after adjusting for clinical features (HR, 0.62; 95% CI, 0.37-1.03; P = .06). Tumor mutations in IRF4 were most common in Hispanic patients, and mutations in SP140, AUTS2, and SETD2 were most common in non-Hispanic Black patients. Differences in tumor expression of BCL7A, SPEF2, and ANKRD26 by race and ethnicity were observed. Clonal hematopoiesis was detected in 12% of patients and associated with inferior OS in non-Hispanic Black patients compared with patients without clonal hematopoiesis (HR, 4.36; 95% CI, 1.36-14.00). This study provides insight into differences in molecular features that may drive clinical disparities in MM patients receiving comparable treatment, with the novel inclusion of Hispanic individuals.
Single-cell transcriptomics reveals the identity and regulators of human mast cell progenitors
Authors: Wu Chenyan , Boey Daryl , Bril Oscar , Grootens Jennine , Vijayabaskar M. S. , Sorini Chiara , Ekoff Maria , Wilson Nicola K. , Ungerstedt Johanna S. , Nilsson Gunnar , Dahlin Joakim S.
Published: May 2022

Mast cell accumulation is a hallmark of a number of diseases, including allergic asthma and systemic mastocytosis. Immunoglobulin E–mediated crosslinking of the FcεRI receptors causes mast cell activation and contributes to disease pathogenesis. The mast cell lineage is one of the least studied among the hematopoietic cell lineages, and controversies remain about whether FcεRI expression appears during the mast cell progenitor stage or during terminal mast cell maturation. Here, we used single-cell transcriptomics analysis to reveal a temporal association between the appearance of FcεRI and the mast cell gene signature in CD34+ hematopoietic progenitors in adult peripheral blood. In agreement with these data, the FcεRI+ hematopoietic progenitors formed morphologically, phenotypically, and functionally mature mast cells in long-term culture assays. Single-cell transcriptomics analysis further revealed the expression patterns of prospective cytokine receptors regulating development of mast cell progenitors. Culture assays showed that interleukin-3 (IL-3) and IL-5 promoted disparate effects on progenitor cell proliferation and survival, respectively, whereas IL-33 caused robust FcεRI downregulation. Taken together, we showed that FcεRI expression appears at the progenitor stage of mast cell differentiation in peripheral blood. We also showed that external stimuli regulate FcεRI expression of mast cell progenitors, providing a possible explanation for the variable FcεRI expression levels during mast cell development.
Comparison of the Indentation Processes Using the Single Indenter and Indenter Array: A Molecular Dynamics Study
Authors: Geng Yanquan , Wang Jiqiang , Li Zihan , Yan Yongda , Zhang Jingran , Gan Yang
Published: May 2022

Fabrication of periodic nanostructures has drawn increasing interest owing to their applications of such functional structures in optics, biomedical and power generation devices. Nano-indentation technique has been proven as a method to fabricate periodic nanostructures. In this study, the molecular dynamic simulation approach is employed to investigate the nano-indentation process for fabricating periodic nano-pit arrays using a single indenter and an indenter array. The morphologies of indentations that machined using these two kinds of indenters are compared. The indentation force and the defect evolution during the nano-indentation process are further studied. Results show that indentation morphologies obtained by single indenter are mainly depended on the spacing of indenters, and a nano-pit array with a better shape and consistency can be obtained easier using the indenter array compared with using a single indenter. The stacking faults and dislocations induced by indentation are depended on the spacing of the indenters. Our findings are significant for understanding the differences of indentation processes using a single indenter and an indenter array and machining a high-quality periodic nano-pit array with high machining efficiency.

Graphical Abstract
The diagnostic journey of genetically defined neurodevelopmental disorders
Authors: Simon Juliana , Hyde Carly , Saravanapandian Vidya , Wilson Rujuta , Distefano Charlotte , Besterman Aaron , Jeste Shafali
Published: May 2022

Background

The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support.

Methods

As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process.

Results

A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older).

Conclusions

Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child’s continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.
Environmental DNA analysis confirms extant populations of the cryptic Irwin’s turtle within its historical range
Authors: Villacorta-Rath Cecilia , Espinoza Thomas , Cockayne Bernie , Schaffer Jason , Burrows Damien
Published: May 2022

Background

Approximately 50% of freshwater turtles worldwide are currently threatened by habitat loss, rural development and altered stream flows. Paradoxically, reptiles are understudied organisms, with many species lacking basic geographic distribution and abundance data. The iconic Irwin’s turtle, Elseya irwini, belongs to a unique group of Australian endemic freshwater turtles capable of cloacal respiration. Water resource development, increased presence of saltwater crocodiles and its cryptic behaviour, have made sampling for Irwin’s turtle in parts of its range problematic, resulting in no confirmed detections across much of its known range for > 25 years. Here, we used environmental DNA (eDNA) analysis for E. irwini detection along its historical and contemporary distribution in the Burdekin, Bowen and Broken River catchments and tributaries. Five replicate water samples were collected at 37 sites across those three river catchments. Environmental DNA was extracted using a glycogen-aided precipitation method and screened for the presence of E. irwini through an eDNA assay targeting a 127 base pair-long fragment of the NADH dehydrogenase 4 (ND4) mitochondrial gene.

Results

Elseya irwini eDNA was detected at sites within its historic distribution in the lower Burdekin River, where the species had not been formally recorded for > 25 years, indicating the species still inhabits the lower Burdekin area. We also found higher levels of E. iriwni eDNA within its contemporary distribution in the Bowen and Broken Rivers, matching the prevailing scientific view that these areas host larger populations of E. irwini.

Conclusions

This study constitutes the first scientific evidence of E. irwini presence in the lower Burdekin since the original type specimens were collected as part of its formal description, shortly after the construction of the Burdekin Falls Dam. From the higher percentage of positive detections in the upper reaches of the Broken River (Urannah Creek), we conclude that this area constitutes the core habitat area for the species. Our field protocol comprises a user-friendly, time-effective sampling method. Finally, due to safety risks associated with traditional turtle sampling methods in the Burdekin River (e.g., estuarine crocodiles) we propose eDNA sampling as the most pragmatic detection method available for E. irwini.
Single-cell transcriptomic and chromatin accessibility analyses of dairy cattle peripheral blood mononuclear cells and their responses to lipopolysaccharide
Authors: Gao Yahui , Li Jianbin , Cai Gaozhan , Wang Yujiao , Yang Wenjing , Li Yanqin , Zhao Xiuxin , Li Rongling , Gao Yundong , Tuo Wenbin , Baldwin Ransom L. , Li Cong-jun , Fang Lingzhao , Liu George E.
Published: May 2022

Background

Gram-negative bacteria are important pathogens in cattle, causing severe infectious diseases, including mastitis. Lipopolysaccharides (LPS) are components of the outer membrane of Gram-negative bacteria and crucial mediators of chronic inflammation in cattle. LPS modulations of bovine immune responses have been studied before. However, the single-cell transcriptomic and chromatin accessibility analyses of bovine peripheral blood mononuclear cells (PBMCs) and their responses to LPS stimulation were never reported.

Results

We performed single-cell RNA sequencing (scRNA-seq) and single-cell sequencing assay for transposase-accessible chromatin (scATAC-seq) in bovine PBMCs before and after LPS treatment and demonstrated that seven major cell types, which included CD4 T cells, CD8 T cells, and B cells, monocytes, natural killer cells, innate lymphoid cells, and dendritic cells. Bioinformatic analyses indicated that LPS could increase PBMC cell cycle progression, cellular differentiation, and chromatin accessibility. Gene analyses further showed significant changes in differential expression, transcription factor binding site, gene ontology, and regulatory interactions during the PBMC responses to LPS. Consistent with the findings of previous studies, LPS induced activation of monocytes and dendritic cells, likely through their upregulated TLR4 receptor. NF-κB was observed to be activated by LPS and an increased transcription of an array of pro-inflammatory cytokines, in agreement that NF-κB is an LPS-responsive regulator of innate immune responses. In addition, by integrating LPS-induced differentially expressed genes (DEGs) with large-scale GWAS of 45 complex traits in Holstein, we detected trait-relevant cell types. We found that selected DEGs were significantly associated with immune-relevant health, milk production, and body conformation traits.

Conclusion

This study provided the first scRNAseq and scATAC-seq data for cattle PBMCs and their responses to the LPS stimulation to the best of our knowledge. These results should also serve as valuable resources for the future study of the bovine immune system and open the door for discoveries about immune cell roles in complex traits like mastitis at single-cell resolution.
A large-scale population based organelle pan-genomes construction and phylogeny analysis reveal the genetic diversity and the evolutionary origins of chloroplast and mitochondrion in Brassica napus L.
Authors: Liu Hongfang , Zhao Wei , Hua Wei , Liu Jing
Published: May 2022

Background

Allotetraploid oilseed rape (Brassica napus L.) is an important worldwide oil-producing crop. The origin of rapeseed is still undetermined due to the lack of wild resources. Despite certain genetic architecture and phylogenetic studies have been done focus on large group of Brassica nuclear genomes, the organelle genomes information under global pattern is largely unknown, which provide unique material for phylogenetic studies of B. napus. Here, based on de novo assemblies of 1,579 B. napus accessions collected globally, we constructed the chloroplast and mitochondrial pan-genomes of B. napus, and investigated the genetic diversity, phylogenetic relationships of B. napus, B. rapa and B. oleracea.

Results

Based on mitotype-specific markers and mitotype-variant ORFs, four main cytoplasmic haplotypes were identified in our groups corresponding the nap, pol, ole, and cam mitotypes, among which the structure of chloroplast genomes was more conserved without any rearrangement than mitochondrial genomes. A total of 2,092 variants were detected in chloroplast genomes, whereas only 326 in mitochondrial genomes, indicating that chloroplast genomes exhibited a higher level of single-base polymorphism than mitochondrial genomes. Based on whole-genome variants diversity analysis, eleven genetic difference regions among different cytoplasmic haplotypes were identified on chloroplast genomes. The phylogenetic tree incorporating accessions of the B. rapa, B. oleracea, natural and synthetic populations of B. napus revealed multiple origins of B. napus cytoplasm. The cam-type and pol-type were both derived from B. rapa, while the ole-type was originated from B. oleracea. Notably, the nap-type cytoplasm was identified in both the B. rapa population and the synthetic B. napus, suggesting that B. rapa might be the maternal ancestor of nap-type B. napus.

Conclusions

The phylogenetic results provide novel insights into the organelle genomic evolution of Brassica species. The natural rapeseeds contained at least four cytoplastic haplotypes, of which the predominant nap-type might be originated from B. rapa. Besides, the organelle pan-genomes and the overall variation data offered useful resources for analysis of cytoplasmic inheritance related agronomical important traits of rapeseed, which can substantially facilitate the cultivation and improvement of rapeseed varieties.
Chromosomal localization of cohesin is differentially regulated by WIZ, WAPL, and G9a
Authors: Justice Megan , Bryan Audra F. , Limas Juanita C. , Cook Jeanette Gowen , Dowen Jill M.
Published: May 2022

Background

The cohesin complex is essential for proper chromosome structure and gene expression. Defects in cohesin subunits and regulators cause changes in cohesin complex dynamics and thereby alter three-dimensional genome organization. However, the molecular mechanisms that drive cohesin localization and function remain poorly understood.

Results

In this study, we observe that loss of WIZ causes changes to cohesin localization that are distinct from loss of the known WIZ binding partner G9a. Whereas loss of WIZ uniformly increases cohesin levels on chromatin at known binding sites and leads to new, ectopic cohesin binding sites, loss of G9a does not. Ectopic cohesin binding on chromatin after the loss of WIZ occurs at regions that are enriched for activating histone modifications and transcription factors motifs. Furthermore, loss of WIZ causes changes in cohesin localization that are distinct from those observed by loss of WAPL, the canonical cohesin unloading factor.

Conclusions

The evidence presented here suggests that WIZ can function independently from its previously identified role with G9a and GLP in heterochromatin formation. Furthermore, while WIZ limits the levels and localization pattern of cohesin across the genome, it appears to function independently of WAPL-mediated cohesin unloading.
Genome-wide identification, evolutionary and functional analyses of KFB family members in potato
Authors: Tang Ruimin , Dong Haitao , He Liheng , Li Peng , Shi Yuanrui , Yang Qing , Jia Xiaoyun , Li Xiu-Qing
Published: May 2022

Background

Kelch repeat F-box (KFB) proteins play vital roles in the regulation﻿ of multitudinous biochemical and physiological processes in plants, including growth and development, stress response and secondary metabolism. Multiple KFBs have been characterized in various plant species, but the family members and functions have not been systematically identified and analyzed in potato.

Results

Genome and transcriptome analyses of StKFB gene family were conducted to dissect the structure, evolution and function of the StKFBs in Solanum tuberosum L. Totally, 44 StKFB members were identified and were classified into 5 groups. The chromosomal localization analysis showed that the 44 StKFB genes were located on 12 chromosomes of potato. Among these genes, two pairs of genes (StKFB15/16 and StKFB40/41) were predicted to be tandemly duplicated genes, and one pair of genes (StKFB15/29) was segmentally duplicated genes. The syntenic analysis showed that the KFBs in potato were closely related to the KFBs in tomato and pepper. Expression profiles of the StKFBs in 13 different tissues and in potato plants with different treatments uncovered distinct spatial expression patterns of these genes and their potential roles in response to various stresses, respectively. Multiple StKFB genes were differentially expressed in yellow- (cultivar ‘Jin-16’), red- (cultivar ‘Red rose-2’) and purple-fleshed (cultivar ‘Xisen-8’) potato tubers, suggesting that they may play important roles in the regulation of anthocyanin biosynthesis in potato.

Conclusions

This study reports the structure, evolution and expression characteristics of the KFB family in potato. These findings pave the way for further investigation of functional mechanisms of StKFBs, and also provide candidate genes for potato genetic improvement.
Assessing the impact of including variation in general population mortality on standard errors of relative survival and loss in life expectancy
Authors: Leontyeva Yuliya , Bower Hannah , Gauffin Oskar , Lambert Paul C , Andersson Therese M.-L.
Published: May 2022

Background

A relative survival approach is often used in population-based cancer studies, where other cause (or expected) mortality is assumed to be the same as the mortality in the general population, given a specific covariate pattern. The population mortality is assumed to be known (fixed), i.e. measured without uncertainty. This could have implications for the estimated standard errors (SE) of any measures obtained within a relative survival framework, such as relative survival (RS) ratios and the loss in life expectancy (LLE). We evaluated the existing approach to estimate SE of RS and the LLE in comparison to if uncertainty in the population mortality was taken into account.

Methods

The uncertainty from the population mortality was incorporated using parametric bootstrap approach. The analysis was performed with different levels of stratification and sizes of the general population used for creating expected mortality rates. Using these expected mortality rates, SEs of 5-year RS and the LLE for colon cancer patients in Sweden were estimated.

Results

Ignoring uncertainty in the general population mortality rates had negligible (less than 1%) impact on the SEs of 5-year RS and LLE, when the expected mortality rates were based on the whole general population, i.e. all people living in a country or region. However, the smaller population used for creating the expected mortality rates, the larger impact. For a general population reduced to 0.05% of the original size and stratified by age, sex, year and region, the relative precision for 5-year RS was 41% for males diagnosed at age 85. For the LLE the impact was more substantial with a relative precision of 1286%. The relative precision for marginal estimates of 5-year RS was 3% and 30% and for the LLE 22% and 313% when the general population was reduced to 0.5% and 0.05% of the original size, respectively.

Conclusions

When the general population mortality rates are based on the whole population, the uncertainty in the estimates of the expected measures can be ignored. However, when based on a smaller population, this uncertainty should be taken into account, otherwise SEs may be too small, particularly for marginal values, and, therefore, confidence intervals too narrow.