Miracle-dz/UniFAR-FTUs huggingface dataset:
Case report of congenital goitre in a goat kid: Clinical and pathological findings

Abstract Congenital goitre is a deadly thyroid metabolic disorder characterised by low thyroid hormone levels, subsequent secretion of excess Thyroid‐Stimulating Hormone (TSH) from the pituitary gland, and compensatory thyroid gland hyperplasia. This study aimed to summarise the clinical and pathological features of congenital goitre in a goat kid. In April 2019, a dead female goat kid with a history of dystocia was referred to Ferdowsi University of Mashhad Veterinary Teaching Hospital, Mashhad, Iran, to examine the carcass and find the reason for death. The necropsy were performed, along with histopathology examination, and clinical signs were recorded. Examination of the foetus revealed the presence of an enlarged thyroid gland, and the skin was thick with myxedema, pale, and without hair. After cutting the skin, the swelling showed a significantly enlarged thyroid gland with two asymmetrical lobes, with the right lobe 3.9×7.1 cm and the left 3.7×7.5 cm in size. In the histopathological examination, a severe proliferation of follicular cells was observed, which caused the thyroid gland to be microscopically dense. In conclusion, this study highlights the importance of recognising and addressing congenital goitre in goat kids. To prevent such tragic outcomes, it is crucial to focus on early detection and intervention. Furthermore, the agents of goitre need to find out and be clear.
Pension System in Poland: Performance of Pension Funds

The significant increase of the old-age-dependency ratio in Poland after the collapse of the centrally planned economy required transformation of the retirement system to adopt it to the current situation. Therefore the essential reform of the pension system in Poland took place in 1999, when the one-pillar – pay as you go system was replaced by the three-pillars system consisting of mandatory, pay-as-you-go pillar; mandatory, fully funded pillar; and voluntary, funded pillar. However problems concerning budget deficit in Poland caused that the Polish government introduced essential changes concerning distribution of the pension contribution between both mandatory pillars and in the pension funds’ portfolio composition in 2011 and 2013. The aim of the research is to analyze the performance of the pension system in Poland in the years 2000-2013. The performance of private pension funds will be evaluated and compared to the “performance” of so-called national scheme.
Reciprocal Connections between Parvalbumin-Expressing Cells and Adjacent Pyramidal Cells Are Regulated by Clustered Protocadherin γ

Abstract Functional neural circuits in the cerebral cortex are established through specific neural connections between excitatory and various inhibitory cell types. However, the molecular mechanisms underlying synaptic partner recognition remain unclear. In this study, we examined the impact of clustered protocadherin-γ (cPcdhγ) gene deletion in parvalbumin-positive (PV+) cells on intralaminar and translaminar neural circuits formed between PV+ and pyramidal (Pyr) cells in the primary visual cortex (V1) of male and female mice. First, we used whole-cell recordings and laser-scan photostimulation with caged glutamate to map excitatory inputs from layer 2/3 to layer 6. We found that cPcdhγ-deficient PV+ cells in layer 2/3 received normal translaminar inputs from Pyr cells through layers 2/3–6. Second, to further elucidate the effect on PV+-Pyr microcircuits within intralaminar layer 2/3, we conducted multiple whole-cell recordings. While the overall connection probability of PV+-Pyr cells remained largely unchanged, the connectivity of PV+-Pyr was significantly different between control and PV+-specific cPcdhγ-conditional knock-out (PV-cKO) mice. In control mice, the number of reciprocally connected PV+ cells was significantly higher than PV+ cells connected one way to Pyr cells, a difference that was not significant in PV-cKO mice. Interestingly, the proportion of highly reciprocally connected PV+ cells to Pyr cells with large unitary IPSC (uIPSC) amplitudes was reduced in PV-cKO mice. Conversely, the proportion of middle reciprocally connected PV+ cells to Pyr cells with large uIPSC amplitudes increased compared with control mice. This study demonstrated that cPcdhγ in PV+ cells modulates their reciprocity with Pyr cells in the cortex.
Global Change and the Terrestrial Biosphere

Terrestrial ecosystems sustain life on Earth through the production of food, fuel, fiber, clean air, and naturally purified water. But how will agriculture and ecosystems be affected by global change? Rogers describes the impact of projected climate change on the terrestrial biosphere and explains why plants are not just passive respondents to global change, but play an important role in determining the rate of change.
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most cases of rigid spine syndrome, however, the underlying genetic cause in some patients remains unexplained. In this study, we used exome and genome sequencing to investigate the genetic basis of rigid spine syndrome in patients without a genetic diagnosis. In five patients from four unrelated families, we identified biallelic variants in HMGCS1 (3-hydroxy-3-methylglutaryl-coenzyme A synthase). These included six missense variants and one frameshift variant distributed throughout HMGCS1. All patients presented with spinal rigidity primarily affecting the cervical and dorsolumbar regions, scoliosis, and respiratory insufficiency. Creatine kinase levels were variably elevated. The clinical course worsened with intercurrent disease or certain drugs in some patients; one patient died from respiratory failure following infection. Muscle biopsies revealed irregularities in oxidative enzyme staining with occasional internal nuclei and rimmed vacuoles. HMGCS1 encodes a key enzyme of the mevalonate pathway, disturbance of which is also associated with HMGCR-limb girdle muscular dystrophy and GGPS1-muscular dystrophy. Quantitative PCR and western blotting confirmed HMGCS1 abundance in skeletal muscle and myogenic precursors. HMGCS1 levels in skeletal muscle were comparable between healthy controls and the index case with a homozygous p{middle dot}(S447P) substitution. Muscle RNA-seq for a patient with a frameshift variant (c{middle dot}344_345del:p{middle dot}S115Wfs*12) and an in trans substitution (p{middle dot}(Q29L)) showed HMGCS1 transcript levels reduced to 53% compared to controls. The substitution appeared homozygous on RNA-seq, suggesting the allele harbouring the frameshift variant undergoes nonsense mediated decay. hmgcs1 null zebrafish displayed severe early defects, including immobility at 2 days and death by days 3 post-fertilisation. We anticipate that the variants observed in this cohort have subtle effects on HMGCS1 function given most patients survived to adulthood. In support of the variants being hypomorphic, analyses of recombinant human HMGCS1 protein and four mutants (p{middle dot}S447P, p{middle dot}Q29L, p{middle dot}M70T, p{middle dot}C268S) showed all mutants maintained their secondary structure and dimerized state and had enzymatic activity comparable to the wildtype. Thermal stability of the mutants was similar or slightly reduced compared to the wildtype. Altogether, our analyses suggest that the identified missense variants in HMGCS1 act through a hypomorphic mechanism yet to be elucidated. Here, we report an additional component of the mevalonate pathway associated with myopathy and suggest biallelic variants in HMGCS1 should be considered in patients presenting with an unresolved rigid spine phenotype.
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder

The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Mutations in EXOSC genes encoding structural subunits of the complex are linked to several autosomal recessive disorders. Here, we describe a missense allele of the EXOSC4 gene, which causes a collection of clinical features in two affected siblings. This missense mutation (NM_019037.3: exon3:c.560T>C), changes a leucine residue within a highly conserved region of EXOSC4 to proline (p.Leu187Pro). The two affected individuals presented with prenatal growth restriction, failure to thrive, global developmental delay, intracerebral and basal ganglia calcifications, and kidney failure. Homozygosity for the damaging variant was identified through exome sequencing and Sanger sequencing confirmed segregation. To explore the functional consequences of this amino acid change, we modeled EXOSC4-L187P in the corresponding budding yeast protein, Rrp41 (Rrp41-L187P). Cells that express Rrp41-L187P as the sole copy of the essential Rrp41 protein show significant growth defects. The steady-state level of both the Rrp41-L187P and the EXOSC4-L187P proteins is significantly decreased compared to control Rrp41/EXOSC4. Consistent with this observation, targets of the RNA exosome accumulate in rrp41-L187P cells, including the 7S precursor of 5.8S rRNA. Polysome profiles show a significant decrease in translation in rrp41-L187P cells as compared to control cells with apparent incorporation of 7S pre-rRNA into polysomes. Taken together, this work adds the EXOSC4 subunit of the RNA exosome to the structural subunits of this complex that have been linked to human disease and defines foundational molecular defects that could contribute to the adverse growth phenotypes caused by this novel EXOSC4 pathogenic variant.
Longitudinal EpiTrack assessment of executive functions following vagus nerve stimulation therapy in patients with drug‐resistant epilepsy

Abstract Objective To investigate executive functions and attention with repeated EpiTrack evaluations in a group of DR patients with drug‐resistant epilepsy (DRE) receiving vagus nerve stimulation (VNS) during a follow‐up duration of up to 5 years. Methods The study involved 33 patients with DRE who were assessed with EpiTrack as a part of the clinical VNS protocol. Evaluations were scheduled prior to VNS implantation and then at 6 months, 12 months, and yearly thereafter. However, the COVID‐19 pandemic disrupted follow‐up. Therefore, changes in EpiTrack total scores over time were analyzed using a linear mixed‐effects (LMEs) model to compensate for the variation in follow‐up duration when predicting EpiTrack total score changes over 5 years. Results The median follow‐up time was 29 months. During each month, the EpiTrack total score was predicted to increase by 0.07 units (95% confidence interval [CI]: 0.01–0.12, P = 0.02), corresponding to a change from a baseline score of 27.3 (severe impairment) to a score of 28.9 (mild impairment) at 2 years and a score of 31.5 (almost normal) at 5 years. In the group of patients with psychiatric comorbidities, the EpiTrack total score increased by 0.14 units per month (P = 0.003), which was 3.5‐fold higher than the increase of patients without psychiatric comorbidities. For the patients taking 1–2 antiseizure medications (ASMs), the EpiTrack total score increased by 0.11 units per month (P = 0.005), which was almost quadruple the rate of patients taking 3–4 ASMs. Significance Based on EpiTrack total scores, the LME model predicted a four‐point improvement in executive functions among patients with DRE at 5 years after the initiation of VNS, representing a clinically meaningful change. DRE patients with comorbid depression seemed to experience the most cognitive benefits. In addition, better cognitive outcomes were achieved if the patient took less than three ASMs. Plain Language Summary Executive functions and attention may improve during vagus nerve stimulation therapy in patients with drug‐resistant epilepsy. Epilepsy patients who have depression or use fewer than three antiseizure medications are likely to benefit cognitively more from the treatment.
Enhanced surveillance of hospitalized COVID-19 patients in Europe: an evaluation of the I-MOVE-COVID-19 surveillance network

Abstract Background A pre-existing, well-established European influenza surveillance network known as I-MOVE enabled the rapid implementation of a European multi-country COVID-19 hospital surveillance network for surveillance of hospitalized COVID-19 cases in early 2020. This network included 257 hospitals in 11 surveillance sites across nine countries. We aimed to identify whether the surveillance objectives were relevant to public health actions, whether the surveillance system met its objectives, where and how shortcomings could be improved, and whether the system was sustainable. Methods We identified six key attributes (meeting objectives, usefulness, timeliness, data quality, simplicity and sustainability) to assess, using Centers for Disease Control and Prevention’s evaluation framework. We analyzed pooled datasets, held interviews and group discussions with 10 participating and coordinating sites and gathered feedback through web surveys. Results There was overall agreement that the surveillance objectives had been met and being involved in a network of European partners had additional important benefits for stakeholders. While the publication of the outputs was not always sufficiently timely, data submission processes were considered straightforward and the key surveillance variables (age, sex, hospital admission and mortality data) were complete. The main challenges were identified as the collection of the large number of variables, limited available human resources and information governance and data protection laws. Conclusions I-MOVE-COVID-19 delivered relevant and accurate data supporting the development and implementation of COVID-19 surveillance. Recommendations presented here identify learning opportunities to support preparedness and surveillance response for future pandemics. The applied evaluation framework in this study can be adapted for other European surveillance system evaluations.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels

In this study, Zhou et al. characterize the molecular, behavioral, and physiological consequences of a novel loss-of-function G118E mutation in the methyl-CpG binding protein MECP2, identified in a patient with Rett syndrome. G118E diminished MECP2 protein levels and independently accelerated its nuclear mobility, altogether limiting MECP2's functional interaction with chromatin in neurons.
Longitudinal Associations between Homelessness and Substance Use: Investigating Demographic Differences for Young Adults in Treatment

Abstract Objective: To examine prospective, bidirectional associations between homelessness and substance use frequency among young adults receiving substance use treatment in the United States. We also investigated potential differences across demographic subgroups. Methods: Young adults (N = 3717, Mage = 20.1, 28% female, 7.3% sexual/gender minority, and 37% non-Hispanic White) receiving substance use treatment in the U.S. completed assessments at intake, 3 months, 6 months, and 12 months post-intake. Latent growth curve models with structured residuals (LGC-SR) were used to examine cross-lagged associations between homeless days and frequency of substance use and associated problems. Models were stratified by sex, race/ethnicity, and sexual and/or gender minority status. Results: Overall, days spent homeless (μslope= −0.19, p = 0.046) and substance use frequency (μslope1= −6.19, p < 0.001) significantly decreased during treatment, with no significant cross-lagged associations between homeless days and substance use frequency. However, results differed by race and ethnicity. For non-Hispanic White young adults, greater substance use at treatment entry was associated with steeper declines in homeless days between-persons (ϕstandardized = −0.14, p = 0.04). For African Americans, homeless days at treatment entry were associated with greater increases in substance use between-persons (ϕstandardized = 0.29, p = 0.04). No significant differences were found by sex or sexual/gender minority status. Conclusions: Despite overall declines in homelessness and substance use during treatment, these outcomes may unfold differently for non-Hispanic White and African American young adults. More support may be needed for African American young adults reporting homelessness at treatment entry.
Genome-Wide Identiﬁcation and Analysis of the Genes Encoding Q-Type C2H2 Zinc Finger Proteins in Grapevine

: Q-type C2H2 zinc ﬁnger proteins (ZFPs), the largest family of transcription factors, have been extensively studied in plant genomes. However, the genes encoding this transcription factor family have not been explored in grapevine genomes. Therefore, in this study, we conducted a genome-wide identiﬁcation of ZFP genes in three species of grapevine, namely Vitis vinifera , Vitis riparia , and Vitis amurensis , based on the sequence databases and phylogenetic and their conserved domains. We identiﬁed 52, 54, and 55 members of Q-type C2H2 ZFPs in V. vinifera , V. riparia , and V. amurensis , respectively. The physical and chemical properties of VvZFPs, VrZFPs, and VaZFPs were examined. The results showed that these proteins exhibited differences in the physical and chemical properties and that they all were hydrophobic proteins; the instability index showed that the four proteins were stable. The subcellular location of the ZFPs in the grapevine was predicted mainly in the nucleus. The phylogenetic tree analysis of the amino acid sequences of VvZFP, VaZFP , VrZFP , and AtZFP proteins showed that they were closely related and were divided into six subgroups. Chromosome mapping analysis showed that VvZFPs , VrZFPs , and VaZFPs were unevenly distributed on different chromosomes. The clustered gene analysis showed that the motif distribution was similar and the sequence of genes was highly conserved. Exon and intron structure analysis showed that 118 genes of ZFPs were intron deletion types, and the remaining genes had variable numbers of introns, ranging from 2 to 15. Cis-element analysis showed that the promoter of VvZFPs contained multiple cis-elements related to plant hormone response, stress resistance, and growth, among which the stress resistance elements were the predominant elements. Finally, the expression of VvZFP genes was determined using real-time quantitative PCR, which conﬁrmed that the identiﬁed genes were involved in response to methyl jasmonate (MeJA), abscisic acid (ABA), salicylic acid (SA), and low-temperature (4 ◦ C) stress. VvZFP10 -GFP and VvZFP46 -GFP fusion proteins were localized in the nucleus of tobacco cells, and VvZFP10 is the most responsive gene among all VvZFPs with the highest relative expression level to MeJA, ABA, SA and low-temperature (4 ◦ C) stress. The present study provides a theoretical basis for exploring the mechanism of response to exogenous hormones and low-temperature tolerance in grapes and its molecular breeding in the future
Forest Mapping Through Object-based Image Analysis of Multispectral and LiDAR Aerial Data

Abstract The objective of this research was to establish a set of rules for using Object-based Image Analysis (OBIA) to semi-automatically map a given densely forested area. Aerial images (RGB and NIR bands) and LiDAR elevation data provided the raw data and were analysed using eCognition Developer 8 software. All the non-forested areas, including built-up areas, water surfaces or agricultural land, were identified first. The forested areas were then classified as stands composed principally of broadleaf trees, coniferous trees, mixed forest or clear-cuts, which was achieved with an accuracy of almost 90%. Subsequently the stands were classified on the basis of height, using 5 metres intervals, and this was achieved with an accuracy of just over 70%.
How capricious supervisors affect hospitality employees’ service performance? A diary study from the employees’ emotional perspective

Drawing on the affective events theory, this study examined the detrimental effects of supervisors’ emotional expression variability on hospitality employees’ emotional experience variability and service performance, and whether employees’ emotion management buffers such negative impacts. The research hypotheses were examined using longitudinal data collected from 145 hotel employees of multiple hotel companies who completed surveys in four phases: Time 1 (i.e., daily surveys for seven workdays to assess supervisors’ emotional expression variability), Time 2 (i.e., daily surveys for 7 workdays to assess employees’ emotional experience variability), Time 3, and Time 4 (i.e., a survey rated by supervisors). The results show that supervisors’ emotional expression variability has an indirect effect on employees’ service performance through employees’ emotional experience variability, and employee emotion management mitigates the related detrimental effects. Theoretical and managerial implications are discussed for hospitality researchers and practitioners.
The fallacies of non-agility: Approaching organizational agility through a dialectical practice perspective

Complexity, paradox, tension, and contradiction are increasingly seen as permeating all aspects of organizational life. Yet despite ongoing advancement, both our understanding of the nature of complexity and how to use this increased appreciation of it in practice are still developing. In this spirit, this article considers organizational agility and how to achieve it. Here, current discussions of organizational agility have failed to sufficiently address the fundamental tensions inherent in learning stemming from conflicting goals and incentives, evident in an ongoing discussion of theory-informed approaches for bringing about organizational agility. In this article, we claim that incorporating a dialectical perspective of learning would provide a means of understanding the successes and failures of practices aimed at bringing about agility. We consider the maligned dialectic, four fallacious ways of thinking that hinder agility, and the extent to which these can be overcome. As evidence, we present a case of Agile implementation in which one of the authors acted as a consultant and involving a large-scale social change. Considering this from a dialectical perspective, we discuss ways that dysfunction in achieving agility might be reduced through disruptive interventions, such as Agile.