Miracle-dz/UniFAR-FTUs huggingface dataset:
Mental health status of Italian elderly subjects during and after quarantine for the COVID‐19 pandemic: a cross‐sectional and longitudinal study

The elderly are more vulnerable to COVID‐19 and therefore need to adopt long‐term social distancing measures. The duration of quarantine impacts the psychological status of the general population. However, until now no study has explored the psychological impact of the pandemic and quarantine together with longitudinal changes in the mental health status of Italian elderly.
Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females). There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.
Estimating the economic cost of nurse sensitive adverse events amongst patients in medical and surgical settings.

AIMS To identify the costs associated with nurse sensitive adverse events and the impact of these events on patients' length of stay. DESIGN Retrospective cohort study using administrative hospital data. METHODS Data were sourced from patient discharge information (N = 5544) from six acute wards within three hospitals (July 2016-October 2017). A retrospective patient record review was undertaken by extracting data from the hospitals' administrative systems on inpatient discharges, length of stay and diagnoses; eleven adverse events sensitive to nurse staffing were identified within the administrative system. A negative binomial regression is employed to assess the impact of nurse sensitive adverse events on length of stay. RESULTS Sixteen per cent of the sample (n = 897) had at least one nurse sensitive adverse event during their episode of care. The model revealed when age, gender, admission type and complexity are controlled for, each additional nurse sensitive adverse event experienced by a patient was associated with an increase in the length of stay beyond the national average by 0.48 days (p = .001). Applying this to the daily average cost of inpatient stay per patient (€1456), we estimate the average cost associated with each nurse sensitive adverse event to be €694. Extrapolating this nationally, the economic cost of nurse sensitive adverse events to the health service in Ireland is estimated to be €91.3 million annually. CONCLUSION These potentially avoidable events are associated with a significant economic burden to health systems. The estimates provided here can be used to inform and prepare the way for future economic evaluations of nurse staffing initiatives that aim to improve care and safety. IMPACT As many of these nurse sensitive adverse events are avoidable, in addition to patient benefits, there is a potential substantial financial return on investment from strategies such as improved nurse staffing that can reduce their occurrence.
Experiences of general practice care for self-harm: a qualitative study of young people’s perspectives

Background Self-harm is a growing concern and rates of self-harm in young people (aged 12–25 years) presenting to general practice are rising. There is, however, little evidence about young people’s experiences of GP care and on accessing general practice. Aim To explore the help-seeking behaviours, experiences of GP care, and access to general practice of young people who self-harm. Design and setting In this qualitative study, semi-structured interviews were conducted with young people aged 16–25 years from England with previous self-harm behaviour. Method Interviews with 13 young people took place between April and November 2019. Young people were recruited from the community, third-sector organisations, and Twitter. Data were analysed using reflexive thematic analysis with principles of constant comparison. A patient and public involvement advisory group informed recruitment strategies and supported interpretation of findings. Results Young people described the avenues of help-seeking they employ and reflected on the mixed experiences of seeing GPs that can influence future help-seeking. Preconceptions and a lack of knowledge about accessing general practice were found to be barriers to help-seeking. GPs who attempt to understand the young person and establish relationship-based care can facilitate young people accessing general practice for self-harm. Conclusion It is important young people are aware of how to access general practice and that GPs listen, understand, and proactively follow-up young people who self-harm. Supporting young people with self-harm behaviour requires continuity of care.
"Pacing does help you get your life back": The acceptability of a newly developed activity pacing framework for chronic pain/fatigue.

OBJECTIVES We have developed and feasibility tested an activity pacing framework for clinicians to standardise their recommendations of activity pacing to patients with chronic pain/fatigue. This study aimed to explore the acceptability and fidelity to this framework in preparation for a future trial of activity pacing. DESIGN Acceptability and fidelity were explored using semi-structured interviews. Data were analysed using framework analysis. PARTICIPANTS Patients who attended a rehabilitation programme for chronic pain/fatigue underpinned by the framework, and clinicians (physiotherapists and psychological wellbeing practitioners) who led the programmes. RESULTS Seventeen interviews were conducted, involving 12 patients with chronic pain/fatigue and five clinicians. The framework analysis revealed four deductive themes: (1) Acceptability of the activity pacing framework, (2) Acceptability of the feasibility study methods, (3) Processes of change and (4) Barriers and facilitators to activity pacing; and one inductive theme: (5) Perspectives of patients and clinicians. CONCLUSIONS The activity pacing framework appeared acceptable to patients and clinicians, and adherence to the framework was demonstrated. Processes of behaviour change included patients' regulation of activities through activity pacing. Barriers to pacing included work/social commitments and facilitators included identifying the benefits of pacing on symptoms. Different perspectives emerged between clinicians and patients regarding interpretations of symptom-contingent and quota-contingent strategies. The framework recognises fluctuations in symptoms of chronic pain/fatigue and encourages a quota-contingent approach with flexibility. Future work will develop a patient friendly guide ahead of a clinical trial to explore the effects of pacing.
Minimal Effects of Proto-Y Chromosomes on House Fly Gene Expression in Spite of Evidence that Selection Maintains Stable Polygenic Sex Determination

Sex determination pathways evolve fast and can even be variable within species. Son et al. used the house fly as a model to study the evolution of sex determination because it has a male. Sex determination, the developmental process by which organismal sex is established, evolves fast, often due to changes in the master regulators at the top of the pathway. Additionally, in species with polygenic sex determination, multiple different master regulators segregate as polymorphisms. Understanding the forces that maintain polygenic sex determination can be informative of the factors that drive the evolution of sex determination. The house fly, Musca domestica, is a well-suited model to those ends because natural populations harbor male-determining loci on each of the six chromosomes and a biallelic female determiner. To investigate how natural selection maintains polygenic sex determination in the house fly, we assayed the phenotypic effects of proto-Y chromosomes by performing mRNA-sequencing experiments to measure gene expression in house fly males carrying different proto-Y chromosomes. We find that the proto-Y chromosomes have similar effects as a nonsex-determining autosome. In addition, we created sex-reversed males without any proto-Y chromosomes and they had nearly identical gene expression profiles as genotypic males. Therefore, the proto-Y chromosomes have a minor effect on male gene expression, consistent with previously described minimal X–Y sequence differences. Despite these minimal differences, we find evidence for a disproportionate effect of one proto-Y chromosome on male-biased expression, which could be partially responsible for fitness differences between males with different proto-Y chromosome genotypes. Therefore our results suggest that, if natural selection maintains polygenic sex determination in house fly via gene expression differences, the phenotypes under selection likely depend on a small number of genetic targets.
Syncope associated with supraventricular tachycardia: Diagnostic role of implantable loop recorders

Syncope represents a relatively uncommon symptom of supraventricular tachycardia (SVT). It is likely that an impaired autonomic vasomotor response to the hemodynamic stress of tachycardia is the determinant of hemodynamic changes leading to cerebral hypoperfusion and syncope. In this regard, tilt‐table test may detect abnormalities in the autonomic nervous function and predict the occurrence of syncope during SVT. Electrophysiology studies may reproduce the SVT, distinguish it from other life‐threatening ventricular tachyarrhythmias, and exclude other causes of syncope. Not infrequently mixed syncope mechanisms are revealed during the above diagnostic workup raising doubts about the operating mechanism in the clinical setting. In such cases of uncertainty, an implantable loop recorder, providing long‐term cardiac monitoring, may play a pivotal role in the establishment of the diagnosis, confirming the association of an arrhythmic event with the symptom. Herein, we present four such cases with recurrent unexplained syncope finally attributed to paroxysmal SVT guiding them to a potentially radical treatment through radiofrequency catheter ablation.
Adolescent and Young Adult Urogenital Outcome following Childhood Hypospadias Repair: Perfection Revisited

Purpose: We assessed the long-term surgical, functional urinary and sexual outcomes of adolescent and young adult men who underwent childhood hypospadias repair. Materials and Methods: Men born with nonsyndromic hypospadias and healthy male controls aged 16–21 years old were recruited, and their surgical, urinary, sexual functional and aesthetic outcomes assessed. Good outcome was defined as a patent and orthotopic meatus without fistulas, and straight erections (<30 degree curvature) without erectile or ejaculatory problems. Statistics included regression analyses, chi-square/Fisher exact tests and Student's t/Mann-Whitney U and Kruskal-Wallis tests. Results: A total of 193 patients and 50 controls participated 16.4 years (range 8.2–21.2) after initial repair. At least 1 reintervention was performed in 39.2%. The highest reintervention rate was found in those younger than 12 months at initial repair, even when excluding proximal hypospadias cases. A disturbed urinary and/or suboptimal sexual functional outcome was seen in 52.9% of cases. Suboptimal voiding was found in 22.1%, although few had relevant residual urine. More reinterventions and proximal hypospadias cases were associated with suboptimal urinary outcome, and the latter also with impaired sexual function. Poor inter-observer agreements were found between physician and patient genital appraisal. Conclusions: In 52.9% of cases, at least 1 concern was identified that required long-term followup. Hypospadias repair below 12 months was associated with more reinterventions. Adopting a restrictive attitude toward aesthetic refinement, unless on the patient’s own request, could improve urinary outcomes.
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Stickler syndrome is a collagenopathy that is typically COL2A1‐related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing impairment, midfacial hypoplasia, and arthropathy. However, some children have primarily ocular disease with mild or no extraocular features. Such children can remain undiagnosed unless suspicion is raised by the ophthalmologist.
Seasonal Variation and Gas/Particle Partitioning of PCBs in Air from Central Urban Area of an Industrial Base and Coastal City -Tianjin, China

ABSTRACTThe 26 air samples were collected from Tianjin urban areas from July 2010 to May 2011 for the analysis of 86 PCB congeners to investigate the gas/particle partitioning of PCBs. The total PCBs concentration (in pg/m3) ranged from 31.28 to 650.33 (mean: 273.77) and showed a significantly seasonal variation as summer > autumn > spring > winter. Gas PCBs accounted for 80.79% of total PCBs. The fraction of each gas PCB homolog increased with the decreasing chlorine atoms. The contribution of gas PCBs to total PCBs showed a strong seasonal variation with summer (94.07%) > autumn (78.91%) > spring (78.19%) > winter (56.02%). Tri-, tetra- and penta-PCBs were the predominantly homologs in Tianjin atmosphere. The natural logarithm of partial pressure of PCBs were well correlated with the inverse absolute environmental temperature (R = 0.79). The steep slope of –4933.64 obtained from Clausius–Clapeyron (C.C) plot indicated the influence of local PCBs sources. In generally, the C.C slopes and the surface-air exchange enthalpy (∆HSA) for different PCB homologs increased with the increasing chlorine atoms. The fraction of particle bound PCBs were underestimated for PCBs with PL0 > 10–3.85 Pa and overestimated for PCB congeners with PL0 < 10–3.85 Pa by Junge-Pankow model. The logarithm of particle/gas partitioning coefficients (log KP) of PCBs were well correlated with the logarithm of respective sub-cooled vapor pressures (log PL0) (R = 0.72) and the octanol-air partition coefficient (log KOA) (R = 0.77). The slopes for log KP against log PL0 and log KOA plots were –0.44 and 0.48, deviated significantly from the expected –1 and +1 for the equilibrium state of gas/particle partitioning, possibly explained by the emission of PCBs and particles from the local industries and other sources. The TEQ concentrations (fg/m3) for 12 dioxin-like PCB congeners ranged from 35.628 to 612.796 with the mean value as 144.878.
Ubiquitin‐proteasome‐system and enzymes of energy metabolism in skeletal muscle of patients with HFpEF and HFrEF

Skeletal muscle (SM) alterations contribute to exercise intolerance in heart failure patients with preserved (HFpEF) or reduced (HFrEF) left ventricular ejection fraction (LVEF). Protein degradation via the ubiquitin‐proteasome‐system (UPS), nuclear apoptosis, and reduced mitochondrial energy supply is associated with SM weakness in HFrEF. These mechanisms are incompletely studied in HFpEF, and a direct comparison between these groups is missing.
Dementia specific care structures in nursing homes-Study protocol of a telephone-based survey study in a nationwide random sample.

AIM To describe a study protocol for a survey study in German nursing homes that (1) plans to enhance a typology of care units (2) and investigates the association between different care unit types and the provision of dementia-specific interventions based on a stratified randomized sample. BACKGROUND Many nursing homes in Germany provide Dementia Special Care Units. Existing definitions often do no justice to the complexity of their context. In this study, we define context as structural and organizational variables. It is necessary to define an empirical based set of indicators to characterize care units with respect to dementia care. DESIGN Observational survey study with a cross-sectional design. METHODS We will use a stratified random nationwide sample of 160 German nursing homes. Stratification variables are federal state and the existence of a Dementia Special Care Unit. The sampling frame from which the participating nursing homes are selected is a list with the total population of German nursing homes (n = 11.658). Data will be gathered on the level of the nursing homes and one of their care units via computer-assisted telephone interviews with a standardized questionnaire. The distribution of the assessed variables (contextual characteristics) will be described in absolute and relative frequencies for the whole sample in the first step in order to describe dementia-specific care structures. In the second step, factor analysis of mixed data (FAMD) with hierarchical clustering (HC) will be applied to analyze relationships between variables. The study was ethically approved in October 2018. DISCUSSION The typology can be used in future studies to define the context of care units in nursing homes. This may improve the interpretation of findings from future studies that investigated interventions in nursing homes. IMPACT The typology will visualize and describe the complexity of contextual characteristics of several care units.
The Correlation Between Negative Nerve Root Sedimentation Sign and Gravity: A Study of Upright Lumbar Multi-Positional Magnetic Resonance Images

Study Design: Retrospective upright MRI study. Objective: To validate the presence of positive and negative nerve root sedimentation signs on multi-positional MRI in the upright position and explore the relationship between negative nerve root sedimentation and gravity. Methods: T2-weighted axial multi-positional images in the upright position at the intervertebral disc levels from L1–L2 to L4–L5 in 141 patients with non-specific low back pain were retrospectively assessed. A positive sedimentation sign was defined as the absence of nerve root sedimentation or the absence of dorsal conglomeration of nerve roots within the dural sac. A negative sedimentation sign was defined as nerve root sedimentation dorsally or dorso-laterally like a horseshoe. Intra-and inter-observer reliability was evaluated. The relationship between sedimentation sign and dural sac cross-sectional area (CSA), anterior-posterior (AP) diameter was also explored. Results: The kappa value of intra-observer reliability was 0.962 and inter-observer reliability was 0.925. Both positive and negative sedimentation signs did appear at all 4 lumbar levels, including L1/2, L2/3, L3/4 and L4/5. A positive sedimentation sign was associated with significantly decreased dural sac CSA and AP diameter at L2/3, L3/4 or L4/5 level when compared to negative sedimentation sign. Conclusions: Both negative and positive sedimentation signs appeared at the L1/2, L2/3, L3/4, and L4/5 levels on the upright MRI, which suggested that the presence of nerve roots sedimenting dorsally in patients may not be associated with gravity. Moreover, the current study supports that sedimentation signs on multi-positional MRI images could have the same diagnostic functions as on MRI images.
Identification and immunoprofiling of key prognostic genes in the tumor microenvironment of hepatocellular carcinoma

ABSTRACT Tumor microenvironment (TME) is involved in the occurrence and development of hepatocellular carcinoma (HCC), and immune cells in the TME have been implicated in its progression and treatment. However, the association of genes involved in the TME with HCC prognosis remains unclear. Thus, in this study, we obtained transcriptomic and clinicopathological data of patients with HCC from The Cancer Genome Atlas to identify key genes in TME associated with HCC prognosis. Stromal and immune cell scores were calculated using the ESTIMATE method, and differentially expressed genes (DEGs) were determined. We identified 830 DEGs, which were further subjected to survival analyses and functional enrichment analysis. Next, we identified prognostic TME-associated DEGs, established a protein-protein interaction (PPI) network, and performed Cox analysis.Consequently, four key prognostic genes (CXCL5, CXCL8, IL18RAP, and TREM2) associated with TME, were identified, in which CXCL5 and IL18RAP may be potential independent prognostic factors. Age, clinical stage, N stage, and risk score were also determined as significant prognostic variables. CIBERSORT was used to predict the constitution and relative content of the immune cells, wherein M0 macrophages were the most closely related to the key genes. In conclusion, CXCL5, CXCL8, IL18RAP, and TREM2 were associated with HCC prognosis and were important for immune cell invasion into the TME. Additionally, IL18RAP expression may contribute toward favorable prognosis in patients with HCC. Consequently, these genes may serve as potential biomarkers and immunotherapeutic targets for HCC. Graphical abstract
Age-Related Improvements in Executive Functions and Focal Attention in 22q11.2 Deletion Syndrome Vary Across Domain and Task

Abstract Objective: Executive functions (EF) and focal attention have been identified as a weakness in the profile of 22q11.2 deletion syndrome (22q11DS). However, due to a high variety of tasks used across previous studies, it remains unclear whether impairments may be more pronounced for specific subdomains of EF and focal attention. Furthermore, age-related changes have only been examined in a few studies, so far only yielding a partial view of the overall developmental profile. Method: In a broad age range (8–35 years) composed of longitudinal data, 183 participants (103 diagnosed with 22q11DS) completed an extensive assessment of EF and attention. To get a more comprehensive overview of specific versus global impairments, several tasks were assessed within multiple domains. Results: Results suggest differential impairments and trajectories in specific EF subdomains. Specifically, our findings suggest that individuals with 22q11DS not only showed lower overall inhibition skills, but also that initiation skills developed at a slower pace compared to healthy controls. Results are less clear regarding cognitive flexibility, updating and focal attention, for which performance strongly depended on the tasks that was selected to assess the domain. Conclusions: Findings confirm and extend knowledge on differential developmental patterns of EF and attention domains in 22q11DS. They further stress the necessity to administer extensive, multifaceted evaluations to gain a more reliable overview of patients’ cognitive profile.