Miracle-dz/UniFAR-FTUs huggingface dataset:
Genome-Wide Association Studies for Milk Somatic Cell Score in Romanian Dairy Cattle

Mastitis is one of the most frequently encountered diseases in dairy cattle, negatively affecting animal welfare and milk production. For this reason, contributions to understanding its genomic architecture are of great interest. Genome-wide association studies (GWAS) have identified multiple loci associated with somatic cell score (SCS) and mastitis in cattle. However, most of the studies have been conducted in different parts of the world on various breeds, and none of the investigations have studied the genetic architecture of mastitis in Romanian dairy cattle breeds up to this point in time. In this study, we report the first GWAS for SCS in dairy cattle breeds from Romania. For GWAS, we used an Axiom Bovine v3 SNP-chip (>63,000 Single Nucleotide Polymorphism -SNPs) and 33,330 records from 690 cows belonging to Romanian Spotted (RS) and Romanian Brown (RB) cattle. The results found one SNP significantly associated with SCS in the RS breed and 40 suggestive SNPs with −log10 (p) from 4 to 4.9 for RS and from 4 to 5.4 in RB. From these, 14 markers were located near 12 known genes (AKAP8, CLHC1, MEGF10, SATB2, GATA6, SPATA6, COL12A1, EPS8, LUZP2, RAMAC, IL12A and ANKRD55) in RB cattle, 3 markers were close to ZDHHC19, DAPK1 and MMP7 genes, while one SNP overlapped the HERC3 gene in RS cattle. Four genes (HERC3, LUZP2, AKAP8 and MEGF10) associated with SCS in this study were previously reported in different studies. The most significant SNP (rs110749552) associated with SCS was located within the HERC3 gene. In both breeds, the SNPs and position of association signals were distinct among the three parities, denoting that mastitis is controlled by different genes that are dependent according to parity. The current results contribute to an expansion in the body of knowledge regarding the proportion of genetic variability explained by SNPs for SCS in dairy cattle.
Effect of Different Types of Face Masks on the Ventilatory and Cardiovascular Response to Maximal-Intensity Exercise

Simple Summary The use of facemasks has been part of the non-pharmacological measures for COVID-19 prevention worldwide. However, in many countries their use for sports has not been mandatory due to the additional strain on breathing. It is important to note that the non-use of facemasks in enclosed spaces significantly increases the risk of infection, since breathing and, consequently, the amount of air exhaled during exercise can increase by up to 5 times its value at rest. On the other hand, the choice of mask type could have a major impact on breathing in different types of sports and it is essential to study the different masks available. Thus, the aim of this study was to compare different ways of breathing during exercise using common face masks in young female athletes. Based on our results, the FFP2 mask causes very considerable changes, making breathing difficult, while the Emotion mask has very little impact on the same parameters. Abstract The development of new models of face masks makes it necessary to compare their impact on exercise. Therefore, the aim of this work was to compare the cardiopulmonary response to a maximal incremental test, perceived ventilation, exertion, and comfort using FFP2 or Emotion masks in young female athletes. Thirteen healthy sportswomen (22.08 ± 1.75 years) performed a spirometry, and a graded exercise test on a treadmill, with a JAEGER® Vyntus CPX gas analyzer using an ergospirometry mask (ErgoMask) or wearing the FFP2 or the Emotion mask below the ErgoMask, randomized on 3 consecutive days. Also, menstrual cycle status was monitored to avoid possible intrasubject alterations. The results showed lower values for the ErgoMask+FFP2, compared to ErgoMask or ErgoMask+Emotion, in forced vital capacity (3.8 ± 0.2, 4.5 ± 0.2 and 4.1 ± 0.1 l, respectively); forced expiratory volume in 1 s (3.3 ± 0.2, 3.7 ± 0.2 and 3.5 ± 0.1 l); ventilation (40.9 ± 1.5, 50.6 ± 1.5 and 46.9 ± 1.2 l/min); breathing frequency (32.7 ± 1.1, 37.4 ± 1.1 and 35.3 ± 1.4 bpm); VE/VO2 (30.5 ± 0.7, 34.6 ± 0.9 and 33.6 ± 0.7); VE/VCO2 (32.2 ± 0.6, 36.2 ± 0.9 and 34.4 ± 0.7) and time to exhaustion (492.4 ± 9.7, 521.7 ± 8.6 and 520.1 ± 9.5 s) and higher values in inspiratory time (0.99 ± 0.04, 0.82 ± 0.03 and 0.88 ± 0.03 s). In conclusion, in young healthy female athletes, the Emotion showed better preservation of cardiopulmonary responses than the FFP2.
Simple Tube Centrifugation Method for Platelet-Rich Plasma (PRP) Preparation in Catalonian Donkeys as a Treatment of Endometritis-Endometrosis

Simple Summary Platelet-rich plasma (PRP) is used to improve the regenerative capacity of damaged tissues in different species. In equine medicine, PRP is commonly used to treat joint diseases, tendinitis, ligamentous lesions, and persistent endometritis. Jenny endometrium shows a high sensitivity to endometritis. There are important differences between donkey and horse blood characteristics. Several protocols to obtain horse PRP have been reported, but no protocols have yet been reported for obtaining donkey PRP. Our study shows that single-spin tube centrifugation at 133× g for 10 min is appropriate to obtain donkey PRP with therapeutic potential in jenny endometritis-endometriosis. Abstract The aim of this study was to standardize a simple, manual platelet-rich plasma (PRP) protocol in Catalonian donkeys using single-spin tube centrifugation as a treatment for jenny endometritis. The objective was to obtain a blood product with a moderate concentration of platelets (2 or 3 times baseline physiologic values) and a low WBC (White Blood Cells) concentration. Blood was drawn from six Catalonian donkeys using acid citrate dextrose (ACD) as an anticoagulant, and then processed by single centrifugation at 133× g for two different centrifugation times (10 and 15 min). The PRP samples were evaluated by flow cytometry, and TGF-β1 (Transforming Growth Factor-Beta1) concentrations were determined by enzyme-linked immunosorbent assay (ELISA). The 10 min centrifugation protocol resulted in a slightly greater release of TGF-β1 (6044.79 ng/mL), a 2.06-fold increase in platelet concentration, and a 15-fold reduction in leukocyte concentration when compared to the initial values. The 15 min centrifugation time resulted in a 2.44-fold increase in baseline platelet concentration, a reduction in WBC count by a factor of 20, and slightly lower TGF levels (5206 ng/mL). We conclude that both protocols are adequate for the obtention of PRP, and both may have an acceptable therapeutic potential for use in this species, although this needs to be further validated.
Impacts of the COVID-19 Pandemic and Self-Isolation on Students and Staff in Higher Education: A Qualitative Study

This qualitative study explored the impact of COVID-19 self-isolation and social restriction measures on university students, through the perspectives of both students and the staff supporting them. The study comprised 11 focus groups (students) and 26 individual interviews (staff) at a higher education institution in England during a period of national lockdown (January–March 2021). Participants were university students (n = 52) with self-isolation experiences and university staff (n = 26) with student-facing support roles. Focus group and interview data were combined and analysed using an inductive thematic approach. Four themes emerged: ‘Adaptation during the pandemic’, ‘Practical, environmental, and emotional challenges of self-isolating’, ‘Social factors and their impact on COVID-19 testing and self-isolation adherence’, and ‘Supporting self-isolation’. Students and staff struggled with the imposed restrictions and shift to online education. Students found it difficult to adapt to new expectations for university life and reported missing out on professional and social experiences. Students and staff noted concerns about the impact of online teaching on educational outcomes. Students endorsed varied emotional responses to self-isolation; some felt unaffected whilst others experienced lowered mood and loneliness. Students were motivated by pro-social attitudes; campaigns targeting these factors may encourage continued engagement in protective behaviours. Staff struggled to manage their increased workloads delivering support for self-isolating students. Universities must consider the support needs of students during self-isolation and prepare for the long-term impacts of the pandemic on student wellbeing and educational attainment. Greater support should be provided for staff during transitional periods, with ongoing monitoring of workforce stress levels warranted.
Epigenetic Regulation of Cardiac Troponin Genes in Pediatric Patients with Heart Failure Supported by Ventricular Assist Device

Ventricular Assist Device (VAD) therapy is considered as a part of standard care for end-stage Heart Failure (HF) children unresponsive to medical management, but the potential role of miRNAs in response to VAD therapy on molecular pathways underlying LV remodeling and cardiac function in HF is unknown. The aims of this study were to evaluate the effects of VAD on miRNA expression profile in cardiac tissue obtained from HF children, to determine the putative miRNA targets by an in-silico analysis as well as to verify the changes of predicated miRNA target in the same cardiac samples. The regulatory role of selected miRNAs on predicted targets was evaluated by a dedicated in vitro study. miRNA profile was determined in cardiac samples obtained from 13 HF children [median: 29 months; 19 LVEF%; 9 Kg] by NGS before VAD implant (pre-VAD) and at the moment of heart transplant (Post-VAD). Only hsa-miR-199b-5p, hsa-miR-19a-3p, hsa-miR-1246 were differentially expressed at post-VAD when compared to pre-VAD, and validated by real-time PCR. Putative targets of the selected miRNAs were involved in regulation of sarcomere genes, such as cardiac troponin (cTns) complex. The expression levels of fetal ad adult isoforms of cTns resulted significantly higher after VAD in cardiac tissue of HF pediatric patients when compared with HF adults. An in vitro study confirmed a down-regulatory effect of hsa-miR-19a-3p on cTnC expression. The effect of VAD on sarcomere organization through cTn isoform expression may be epigenetically regulated, suggesting for miRNAs a potential role as therapeutic targets to improve heart function in HF pediatric patients.
Tumor Cells and the Extracellular Matrix Dictate the Pro-Tumoral Profile of Macrophages in CRC

Simple Summary The pathogenesis of CRC relies on complex interactions between developing cancer and surrounding tissue, including the immune system. One of the most abundant tumor-infiltrating cell populations is represented by tumor-associated macrophages (TAMs). TAMs play a detrimental role and are associated with a poor prognosis in many tumors and are characterized by an impaired antigen-presenting capability and by immunosuppressive activity. However, their role in CRC is still controversial. Our study aimed to elucidate how the colorectal cancer environment educates macrophages toward a pro-tumoral profile, exploiting them to escape the immune response. We demonstrate that both CRC cells and the extracellular matrix are actively involved in defining the macrophage profile, which is characterized by immunosuppressive activity and an impaired antigen-presenting ability. Dissecting the contribution of the tumor environment to the influence on the macrophage profile will provide additional knowledge for the development of new antitumor strategies. Abstract Tumor-associated macrophages (TAMs) are major components of the tumor microenvironment. In colorectal cancer (CRC), a strong infiltration of TAMs is accompanied by a decrease in effector T cells and an increase in the metastatic potential of CRC. We investigated the functional profile of TAMs infiltrating CRC tissue by immunohistochemistry, flow cytometry, ELISA, and qRT-PCR and their involvement in impairing the activation of effector T cells. In CRC biopsies, we evidenced a high percentage of macrophages with low expression of the antigen-presenting complex MHC-II and high expression of CD206. Monocytes co-cultured with tumor cells or a decellularized tumor matrix differentiated toward a pro-tumoral macrophage phenotype characterized by decreased expression of MHC-II and CD86 and increased expression of CD206 and an abundant release of pro-tumoral cytokines and chemokines. We demonstrated that the hampered expression of MHC-II in macrophages is due to the downregulation of the MHC-II transactivator CIITA and that this effect relies on increased expression of miRNAs targeting CIITA. As a result, macrophages become unable to present antigens to CD4 T lymphocytes. Our data suggest that the tumor microenvironment contributes to defining a pro-tumoral profile of macrophages infiltrating CRC tissue with impaired capacity to activate T cell effector functions.
Healthcare worker stress, anxiety and burnout during the COVID-19 pandemic in Singapore: A 6-month multi-centre prospective study

Aim The long-term stress, anxiety and job burnout experienced by healthcare workers (HCWs) are important to consider as the novel coronavirus disease (COVID-19) pandemic stresses healthcare systems globally. The primary objective was to examine the changes in the proportion of HCWs reporting stress, anxiety, and job burnout over six months during the peak of the pandemic in Singapore. The secondary objective was to examine the extent that objective job characteristics, HCW-perceived job factors, and HCW personal resources were associated with stress, anxiety, and job burnout. Method A sample of HCWs (doctors, nurses, allied health professionals, administrative and operations staff; N = 2744) was recruited via invitation to participate in an online survey from four tertiary hospitals. Data were gathered between March-August 2020, which included a 2-month lockdown period. HCWs completed monthly web-based self-reported assessments of stress (Perceived Stress Scale-4), anxiety (Generalized Anxiety Disorder-7), and job burnout (Physician Work Life Scale). Results The majority of the sample consisted of female HCWs (81%) and nurses (60%). Using random-intercept logistic regression models, elevated perceived stress, anxiety and job burnout were reported by 33%, 13%, and 24% of the overall sample at baseline respectively. The proportion of HCWs reporting stress and job burnout increased by approximately 1·0% and 1·2% respectively per month. Anxiety did not significantly increase. Working long hours was associated with higher odds, while teamwork and feeling appreciated at work were associated with lower odds, of stress, anxiety, and job burnout. Conclusions Perceived stress and job burnout showed a mild increase over six months, even after exiting the lockdown. Teamwork and feeling appreciated at work were protective and are targets for developing organizational interventions to mitigate expected poor outcomes among frontline HCWs.
COVID-19 Pandemic and Personality: Agreeable People Are More Stressed by the Feeling of Missing

The COVID-19 pandemic and the measures taken to contain it have substantial consequences for many people, resulting in negative effects on individual well-being and mental health. In the current study, we examined whether individual changes in perceived stress relative to pre-pandemic levels depended on differences in behavior, appraisal, and experience of pandemic-related constraints. In addition, we tested whether this potential relationship was moderated by personality traits. We conducted an online survey during the end of the first lockdown in Germany in spring 2020, and assessed pandemic-related individual consequences as well as perceived stress. These data were related to the big five personality traits and to ratings of perceived stress obtained from the same participants in a study conducted before the outbreak of the pandemic, using the same standardized stress questionnaires. There was no overall increase, but a large interindividual variety in perceived stress relative to pre-pandemic levels. Increased stress was associated especially with strong feelings of missing. This relationship was moderated by agreeableness, with more agreeable people showing a higher association of the feeling of missing and the increase of perceived stress. In addition, openness and conscientiousness were positively correlated with an increase in stress. The results highlight the importance of considering personality and individual appraisals when examining the consequences of the COVID-19 pandemic on perceived stress and well-being.
Genes Associated with Disturbed Cerebral Neurogenesis in the Embryonic Brain of Mouse Models of Down Syndrome

Down syndrome (DS), also known as trisomy 21, is the most frequent genetic cause of intellectual disability. Although the mechanism remains unknown, delayed brain development is assumed to be involved in DS intellectual disability. Analyses with human with DS and mouse models have shown that defects in embryonic cortical neurogenesis may lead to delayed brain development. Cre-loxP-mediated chromosomal engineering has allowed the generation of a variety of mouse models carrying various partial Mmu16 segments. These mouse models are useful for determining genotype–phenotype correlations and identifying dosage-sensitive genes involved in the impaired neurogenesis. In this review, we summarize several candidate genes and pathways that have been linked to defective cortical neurogenesis in DS.
Treatment with Autophagy Inducer Trehalose Alleviates Memory and Behavioral Impairments and Neuroinflammatory Brain Processes in db/db Mice

Autophagy attenuation has been found in neurodegenerative diseases, aging, diabetes mellitus, and atherosclerosis. In experimental models of neurodegenerative diseases, the correction of autophagy in the brain reverses neuronal and behavioral deficits and hence seems to be a promising therapy for neuropathologies. Our aim was to study the effect of an autophagy inducer, trehalose, on brain autophagy and behavior in a genetic model of diabetes with signs of neuronal damage (db/db mice). A 2% trehalose solution was administered as drinking water during 24 days of the experiment. Expressions of markers of autophagy (LC3-II), neuroinflammation (IBA1), redox state (NOS), and neuronal density (NeuN) in the brain were assessed by immunohistochemical analysis. For behavioral phenotyping, the open field, elevated plus-maze, tail suspension, pre-pulse inhibition, and passive avoidance tests were used. Trehalose caused a slight reduction in increased blood glucose concentration, considerable autophagy activation, and a decrease in the neuroinflammatory response in the brain along with improvements of exploration, locomotor activity, anxiety, depressive-like behavior, and fear learning and memory in db/db mice. Trehalose exerted some beneficial peripheral and systemic effects and partially reversed behavioral alterations in db/db mice. Thus, trehalose as an inducer of mTOR-independent autophagy is effective at alleviating neuronal and behavioral disturbances accompanying experimental diabetes.
Relevance of CSF, Serum and Neuroimaging Markers in CNS and PNS Manifestation in COVID-19: A Systematic Review of Case Report and Case Series

Background: The data on neurological manifestations in COVID-19 patients has been rapidly increasing throughout the pandemic. However, data on CNS and PNS inflammatory disorders in COVID-19 with respect to CSF, serum and neuroimaging markers is still lacking. Methods: We screened all articles resulting from a search of PubMed, Google Scholar and Scopus, using the keywords “SARS-CoV-2 and neurological complication”, “SARS-CoV-2 and CNS Complication” and “SARS-CoV-2 and PNS Complication” looking for transverse myelitis, vasculitis, acute disseminated encephalomyelitis, acute hemorrhagic necrotizing encephalitis (AHNE), cytotoxic lesion of the corpus callosum (CLOCC) and Guillain-Barré syndrome (GBS), published between 1 December 2019 to 15 July 2021. Results: Of the included 106 CNS manifestations in our study, CNS inflammatory disorders included transverse myelitis (17, 14.7%), AHNE (12, 10.4%), ADEM (11, 9.5%), CLOCC/MERS (10, 8.6%) and vasculitis (4, 3.4%). Others were nonspecific encephalopathy, encephalitis, seizures and stroke. Most patients were >50 years old (75, 70.8%) and male (64, 65.3%). Most (59, 63.4%) were severe cases of COVID-19 and 18 (18%) patients died. Of the included 94 PNS manifestations in our study, GBS (89, 92.7%) was the most common. Most of these patients were >50 years old (73, 77.7%) and male (59, 64.1%). Most (62, 67.4%) were non-severe cases of COVID-19, and ten patients died. Conclusion: Our comprehensive review of the clinical and paraclinical findings in CNS and PNS manifestations of COVID-19 provide insights on the pathophysiology of SARS-CoV-2 and its neurotropism. The higher frequency and severity of CNS manifestations should be noted by physicians for increased vigilance in particular COVID-19 cases.
Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing

Mitochondrial disease originates from genetic changes that impact human bodily functions by disrupting the mitochondrial oxidative phosphorylation system. MitoCarta is a curated and published inventory that sheds light on the mitochondrial proteome, but the function of some mitochondrially-localised proteins remains poorly characterised. Consequently, various gene editing systems have been employed to uncover the involvement of these proteins in mitochondrial biology and disease. CRISPR/Cas9 is an efficient, versatile, and highly accurate genome editing tool that was first introduced over a decade ago and has since become an indispensable tool for targeted genetic manipulation in biological research. The broad spectrum of CRISPR/Cas9 applications serves as an attractive and tractable system to study genes and pathways that are essential for the regulation and maintenance of mitochondrial health. It has opened possibilities of generating reliable cell and animal models of human disease, and with further exploitation of the technology, large-scale genomic screenings have uncovered a wealth of fundamental mechanistic insights. In this review, we describe the applications of CRISPR/Cas9 system as a genome editing tool to uncover new insights into pathomechanisms of mitochondrial diseases and/or biological processes involved in mitochondrial function.
Developmental Traits of Impulse Control Behavior in School Children under Controlled Attention, Motor Function, and Perception

This research surveyed the characteristics of the developmental traits of impulse control behavior in children through parent-report questionnaires. After matching for gender and attention behavior, as well as controlling for variables (motor and perception) which might confound impulse control, 710 participants (355 girls and 355 boys; grade, 1–5; age, 7–12 years) were recruited from a database of 1763 children. Results demonstrated that there was a significant difference between grade 1 and grade 5 in impulse control. Conversely, no significant differences were found when comparing other grades. The present findings indicate that a striking development of impulse control occurs from grade 4 to 5. Moreover, the plateau of impulse control development from grade 1 to 4 implies that a long transition period is needed to prepare children to develop future impulse control. In conclusion, the age-dependent maturation associated with stage-wise development is a critical characteristic of impulse control development in school age children. Further discussions are made regarding this characteristic, such as from the perspective of frontal lobe development.