Miracle-dz/UniFAR-FTUs huggingface dataset:
Gorham–Stout disease: good results of bisphosphonate treatment in 6 of 7 patients

Background and purpose — Gorham–Stout disease (GSD) is a rare mono- or polyostotic condition characterized by idiopathic intraosseous proliferation of angiomatous structures resulting in progressive destruction and resorption of bone. Little is known about the course of disease and no previous study has evaluated patients’ quality of life (QoL). Patients and methods — This is a retrospective analysis of 7 consecutive patients (5 males) with a median age at diagnosis of 14 years and a median follow-up of 7 years who were diagnosed with GSD in our department between 1995 and 2018. Data regarding clinical, radiographic, and histopathological features, and treatment, as well as sequelae and their subsequent therapy, were obtained. QoL was assessed by Musculoskeletal Tumor Society Score (MSTS), Toronto Extremity Salvage Score (TESS), and Reintegration to Normal Living (RNL) Index. Results — 3 patients had a monoostotic and 4 patients a polyostotic disease. Besides a diagnostic biopsy, 4 of the 7 patients had to undergo 8 surgeries to treat evolving sequelae. Using an off-label therapy with bisphosphonates in 6 patients, a stable disease state was achieved in 5 patients after a median of 20 months. The median MSTS, TESS, and RNL Index at last follow-up was between 87% and 79%. Interpretation — Due to its rare occurrence, diagnosis and treatment of GSD remain challenging. Off-label treatment with bisphosphonates appears to lead to a stable disease state in the majority of patients. QoL varies depending on the individual manifestations but good to excellent results can be achieved even in complex polyostotic cases with a history of possibly life-threatening sequelae.
Internal consistency and convergent and divergent validity of the Liverpool jetlag questionnaire

ABSTRACT Objective measures of circadian disruption are difficult to capture in a free-living environment hence the importance of validating subjective measures of jetlag. We aimed to assess the internal consistency of the 15-item Liverpool Jetlag Scale and its convergent and divergent validity with indicators of fatigue and anxiety in a large sample of air passengers. Online survey of passengers was conducted after travel on a range of long-haul flights. Jetlag was captured using the Liverpool scale, fatigue was measured using the Vitality subscale of the Short-Form Health Survey (SF-36), and the presence of anxiety or worry before, during, and after flight was self-reported. Inter-item correlations and Cronbach’s alpha were calculated to assess the internal consistency of the scale. Exploratory factor analysis was used to examine whether the scale was consistent with one underlying construct of circadian disruption. Correlations between fatigue and anxiety (flying, situational, symptoms) with jetlag were used to assess convergent and divergent validity. Linear regression was used to determine the most important symptoms contributing to subjective jetlag rating. N = 460 passengers (57% female, mean age 50, SD 16 years) were surveyed. Cronbach’s alpha indicated high internal reliability (alpha = 0.85). Jetlag was more strongly correlated with fatigue (rho = 0.47) than any type of anxiety (rho = 0.10–0.22). Exploratory factor analysis indicated responses were consistent with four factors: (i) fatigue/daytime impairment, (ii) sleep disturbance, (iii) changes in appetite and (iv) changes in bowel function. Regression analysis indicated that only changes in concentration, sleep time, fatigue, sleep quality and frequency of bowel motions were independent correlates of subjective jetlag (R2 = 27%). The Liverpool Jetlag Scale is internally consistent and demonstrates the expected relationships with fatigue and anxiety. Patterns of response are not consistent with all items being derived from one underlying factor, i.e. circadian disruption. Further, not all items contributed to the jetlag rating, suggesting the single-item rating may be useful for capturing the subjective experience of jetlag, whilst a total jetlag score is useful for also capturing circadian symptoms considered by passengers to be unrelated to jetlag. Validation of subjective jetlag against objective measures of circadian disruption is required.
Design and Content Quality of Alcohol-Related German, French and Italian Self-Tracking Applications

Abstract Background: Research on the increasing use of mobile technology in the addiction field is mainly focused on data collection and brief interventions. The acceptance and outcomes of autonomous self-tracking and self-governance as key elements for behavior change are under-researched. Purpose/Objectives: The objective of the study was to conduct a quality assessment of design and content features of self-tracking smartphone applications related to alcohol use, available in German, Italian, or French. Methods: A total of 25 self-tracking applications were identified, of which 17 could be assessed with the Mobile App Rating Scale (MARS), the System Usability Scale (SUS), and an additional content quality checklist based on the theoretical self-change framework (n = 13). Results: The scale design analysis showed a rather positive picture. Using the SUS, only six cases were below the reference average (x = 68), and three were clearly above average. Application of the MARS showed higher scores among the self-tracking applications in this study than among the health applications reviewed in the original MARS study. Better design quality goes together with better basic content quality. However, a closer look at the “interactivity scores” and the “risk/information barometer,” as well as at the individual subtopics of the 10-point content checklist revealed major shortcomings. Conclusions/Importance: Improvements are necessary for consumer information in app stores, increased availability of alcohol-related self-tracking applications, transparent quality assurance regarding evidence-based content, and user-friendly design quality, to provide guidance for potential users on how to successfully navigate a highly unstable digital environment.
FGF signaling directs myotube guidance by regulating Rac activity

ABSTRACT Nascent myotubes undergo a dramatic morphological transformation during myogenesis, in which the myotubes elongate over several cell diameters and are directed to the correct muscle attachment sites. Although this process of myotube guidance is essential to pattern the musculoskeletal system, the mechanisms that control myotube guidance remain poorly understood. Using transcriptomics, we found that components of the Fibroblast Growth Factor (FGF) signaling pathway were enriched in nascent myotubes in Drosophila embryos. Null mutations in the FGF receptor heartless (htl), or its ligands, caused significant myotube guidance defects. The FGF ligand Pyramus is expressed broadly in the ectoderm, and ectopic Pyramus expression disrupted muscle patterning. Mechanistically, Htl regulates the activity of Rho/Rac GTPases in nascent myotubes and effects changes in the actin cytoskeleton. FGF signals are thus essential regulators of myotube guidance that act through cytoskeletal regulatory proteins to pattern the musculoskeletal system. Summary: This study has identified a novel function for the FGF pathway as a key regulator of myotube guidance during myogenesis, along with a unique experimental framework to further investigate the mechanisms involved.
Education Research: The Narrative Evaluation Quality Instrument

Objective Determining the quality of narrative evaluations to assess medical student neurology clerkship performance remains a challenge. This study sought to develop a tool to comprehensively and systematically assess quality of student narrative evaluations. Methods The Narrative Evaluation Quality Instrument (NEQI) was created to assess several components within clerkship narrative evaluations: performance domains, specificity, and usefulness to learner. In this retrospective study, 5 investigators scored 123 narrative evaluations using the NEQI. Inter-rater reliability was estimated by calculating interclass correlation coefficients (ICC) across 615 NEQI scores. Results The average overall NEQI score was 6.4 (SD 2.9), with mean component arm scores of 2.6 for performance domains (SD 0.9), 1.8 for specificity (SD 1.1), and 2.0 for usefulness (SD 1.4). Each component arm exhibited moderate reliability: performance domains ICC 0.65 (95% confidence interval [CI] 0.58–0.72), specificity ICC 0.69 (95% CI 0.61–0.77), and usefulness ICC 0.73 (95% CI 0.66–0.80). Overall NEQI score exhibited good reliability (0.81; 95% CI 0.77–0.86). Conclusion The NEQI is a novel, reliable tool to comprehensively assess the quality of narrative evaluation of neurology clerks and will enhance the study of interventions seeking to improve clerkship evaluation.
Knee Extension Deficit in the Early Postoperative Period Predisposes to Cyclops Syndrome After Anterior Cruciate Ligament Reconstruction: A Risk Factor Analysis in 3633 Patients From the SANTI Study Group Database

Background: Cyclops syndrome is characterized by a symptomatic extension deficit attributed to impingement of a cyclops lesion within the intercondylar notch. The syndrome is an important cause of reoperation after anterior cruciate ligament reconstruction (ACLR). It has been suggested that remnant-preserving ACLR techniques may predispose to cyclops syndrome, but there is very limited evidence to support this. In general terms, risk factors for cyclops syndrome are not well-understood. Purpose: To determine the frequency of and risk factors for reoperation for cyclops syndrome in a large series of patients after ACLR. Study Design: Case-control study; Level of evidence, 3. Methods: A retrospective analysis of prospectively collected data was performed, including all patients who underwent primary ACLR between January 2011 to December 2017. Patients undergoing major concomitant procedures were excluded. Demographic data, intraoperative findings (including the size of preserved remnants), and postoperative outcomes were recorded. Those patients who underwent reoperation for cyclops syndrome were identified, and potential risk factors were evaluated in multivariate analysis. Results: A total of 3633 patients were included in the study, among whom 65 (1.8%) underwent reoperation for cyclops syndrome. Multivariate analysis demonstrated that preservation of large remnants did not predispose to cyclops lesions (odds ratio [OR], 1.11; 95% CI, 0.63-1.93). The most important risk factor was extension deficit in the early postoperative period. If present at 3 weeks postoperatively, it was associated with a >2-fold increased risk of cyclops syndrome (OR, 2.302; 95% CI, 1.268-4.239; P < .01), which was increased to 8-fold if present 6 weeks after ACLR (OR, 7.959; 95% CI, 4.442-14.405; P < .0001). None of the other potential risk factors evaluated were found to be significantly associated with an increased frequency of cyclops syndrome. Conclusion: Failure to regain full extension in the early postoperative period was the only significant risk factor for cyclops syndrome after ACLR in a large cohort of patients. Other previously hypothesized risk factors, such as preservation of a large anterior cruciate ligament remnant, did not predispose to the development of this debilitating postoperative complication.
Assessing the Psychometric Proprieties of the Attitudes Toward Seeking Professional Psychological Help Scale–Short Form (ATSPPH-SF) Among Latino Adults

The Latino population continues to underutilize mental health services at an alarming rate. The Attitudes Toward Seeking Professional Psychological Help Scale–Short Form (ATSPPH-SF) is one of the most commonly used instruments to assess help-seeking attitudes. The current study sought to evaluate the factor structure and test for the presence of differential item functioning on the ATSPPH-SF with a sample of Latino adult individuals across nativity status (U.S.- vs. foreign-born), language format (English vs. Spanish), and gender. The analyses revealed two relatively independent factors named Openness to Seeking Treatment and Value and Need in Seeking Treatment. Measurement equivalence and practical implications are discussed in the context of use with Latino individuals.
Optimizing Patient Outcomes with PD‐1/PD‐L1 Immune Checkpoint Inhibitors for the First‐Line Treatment of Advanced Non–Small Cell Lung Cancer

The rapidly expanding repertoire of immune checkpoint inhibitors (ICIs) now includes two agents, pembrolizumab and atezolizumab, approved for first‐line treatment of advanced non–small cell lung cancer (aNSCLC) as monotherapy or as part of chemoimmunotherapy. This review summarizes the clinical evidence supporting these indications, with a focus on strategies to optimize patient outcomes. These strategies include patient and tumor factors, adverse‐effect profiles, pharmacokinetic and pharmacodynamic drug interactions, and quality of life and cost‐effectiveness considerations. We performed a systematic literature search of the PubMed, Scopus, and Google Scholar databases, as well as a search of the conference proceedings of the American Society of Clinical Oncology, European Society for Medical Oncology, and American Association for Cancer Research (through August 31, 2019). The addition of ICIs to conventional chemotherapy as first‐line treatment against aNSCLC is now part of the standard of care options. However, even though ICIs may be cost‐effective in patients with aNSCLC, high drug and other associated costs can still be a barrier to treatment for patients. Moreover, the adverse‐effect profiles of ICIs differ significantly from conventional chemotherapy, and some immune‐related adverse effects may have a lasting impact on quality of life. Therefore, in adhering to a patient‐centered model of care, clinicians should be mindful of patient‐ and treatment‐specific factors when considering therapeutic options for patients with aNSCLC. Although the role of the immune system in cancer progression and regression has not been fully elucidated, the full clinical potential of immunotherapeutics in the treatment of cancer likely remains to be unleashed.
Evidence for a dissociation between causal beliefs and instrumental actions

Human experiments have demonstrated that instrumental performance of an action and the causal beliefs of the effectiveness of an action in producing a reward are correlated and controlled by the probability of an action leading to a reward. The animal literature, however, shows that instrumental performance under free-operant training differs even when the reward probabilities are matched while subjects undergo training under ratio or interval schedules of reward. In two experiments, we investigated whether causal beliefs would correlate with instrumental performance under ratio and interval schedules for matched reward probabilities. In both experiments, we found that performance was higher under ratio than under interval training. However, causal beliefs were similar between these two conditions despite these differences in instrumental performance. When reward probabilities were increased by experimental manipulations in Experiment 2, the causal beliefs increased but performance decreased with respect to Experiment 1. This is evidence that instrumental performance and causal action-reward attribution may not follow from the same psychological process under free-operant training.
Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide population-based cohort study

Temporal trends of the prevalence and incidence of hypertrophic cardiomyopathy (HCM) have not been well established in Asian populations. Using the Korean National Health Insurance Services database, we identified patients with a confirmed diagnosis of HCM between 2010 and 2016. The annual prevalence and incidence of HCM, and their clinical characteristics were investigated. The prevalence of HCM has increased from 0.016% (n = 6313) in 2010 to 0.031% (n = 13,035) in 2016. During a 7-year period, 13,229 patients were newly diagnosed with HCM. The incidence rate increased from 4.15 (per 100,000 person-years) in 2010 to 5.6 in 2016. The prevalence and incidence of HCM increased with age and peaked during the 70s, with male predominance in all age groups. Chest pain is the most frequent clinical presentation followed by shortness of breath and syncope. Hypertension and dyslipidemia were the two most common comorbidities. Heart failure and atrial fibrillation was diagnosed in about 1/3 and 1/4 of patients with HCM, respectively. The prevalence and incidence of HCM gradually increased from 2010 to 2016, possibly due to heightened recognition of the disease. Given the progressively high incidence of HCM with age and high prevalence of coexisting modifiable risk factors, continued efforts are required to increase awareness regarding HCM-related symptoms and potential complications.
Histological and immunohistochemical characterization of the porcine ocular surface

The ocular surface of the white domestic pig (Sus scrofa domestica) is used as a helpful model of the human ocular surface; however, a complete histological description has yet to be published. In this work, we studied porcine eyeballs with intact eyelids to describe and characterize the different structures that form the ocular surface, including the cornea and conjunctiva that covers the bulbar sclera, tarsi, and the nictitating membrane. We determined the distribution of goblet cells of different types over the conjunctiva and analyzed the conjunctival-associated lymphoid tissue (CALT). Porcine eyeballs were obtained from a local slaughterhouse, fixed, processed, and embedded in paraffin blocks. Tissue sections (4 μm) were stained with hematoxylin/eosin, Alcian blue/Periodic Acid Schiff, and Giemsa. Slides were also stained with lectins from Arachis hypogaea (PNA) and Helix pomatia (HPA) agglutinins and immunostained with rabbit anti-CD3. We found that the porcine cornea was composed of 6–8 epithelial cell layers, stroma, Descemet’s membrane, and an endothelial monolayer. The total corneal thickness was 1131.0±87.5 μm (mean±standard error of the mean) in the center and increased to 1496.9±138.2 μm at the limbus. The goblet cell density was 71.25±12.29 cells/mm, ranging from the highest density (113.04±37.21 cells/mm) in the lower palpebral conjunctiva to the lowest density (12.69±4.29 cells/mm) in the bulbar conjunctiva. The CALT was distributed in the form of intraepithelial lymphocytes and subepithelial diffuse lymphoid tissue. Lenticular-shaped lymphoid follicles, about 8 per histological section, were also present within the conjunctival areas. In conclusion, we demonstrated that the analyzed porcine ocular structures are similar to those of humans, confirming the potential usefulness of pig eyes to study ocular surface physiology and pathophysiology.
Preparation for practice and the arguments for standardisation in view of the forthcoming medical licensing exam: A literature review

Abstract Aims: The aim of this paper is to address whether the introduction of a national licensing exam will improve preparedness for practice. This review will explore and identify the areas in which UK medical graduates are feeling underprepared. In addition, this review will discuss the need for the Medical Licensing Assessment in the UK. Methods: A literature search of several databases was performed in December 2018. Studies which identified the areas in which medical graduates were prepared/unprepared for, and those which explored whether UK medical schools were adequately preparing their graduates for practice, were included. Studies exploring the preparedness of international medical graduates were excluded. Results: Sixteen articles met the final inclusion criteria and are included in this review. All the final studies are cross-sectional and are varied in their use of methods used, with the vast majority using questionnaires to identify the preparedness of medical students and junior doctors. Conclusions: This review conveys that junior doctors are mostly underprepared in emergency work. This can be associated to a lack of exposure to emergency situations during their undergraduate training. Moreover, this review suggests that the preparedness of medical graduates may remain unaffected by the implementation of the MLA.
Programmed deep septal stimulation: A novel maneuver for the diagnosis of left bundle branch capture during permanent pacing

Permanent deep septal stimulation with capture of the left bundle branch (LBB) enables maintenance/restoration of the physiological activation of the left ventricle. However, it is almost always accompanied by the simultaneous engagement of the local septal myocardium, resulting in a fused (nonselective) QRS complex, therefore, confirmation of LBB capture remains difficult.
Multiple cause of death analysis in multiple sclerosis

Objective To gain a better understanding of the complex patterns of causes that contribute to death due to multiple sclerosis (MS) by assessing the relationship between MS and other causes of death listed on death certificates. Methods Multiple cause of death data for all adult deaths (aged ≥18 years) in British Columbia, Canada, between 1986 and 2013 were accessed. All causes, as listed on the death certificate, whether underlying or contributing, were considered “any mention” causes. The associations between mention of MS on the death certificate and mention of other causes of death were examined by logistic regression, adjusted for age, sex, and calendar year (Bonferroni-corrected α level = 0.002). Findings were also sex-stratified. Results Among 771,288 deaths, MS was mentioned on 2,153 certificates. If MS was mentioned (versus not mentioned), there was a greater chance that specific conditions contributed to the death: respiratory infection (adjusted odds ratio [aOR], 3.03 [95% confidence interval (CI), 2.73–3.36]), aspiration pneumonia (aOR, 7.15 [95% CI, 6.23–8.22]), urinary tract infection (UTI) (aOR, 10.2 [95% CI, 8.7–12.0]), other infection including sepsis (aOR, 1.34 [95% CI, 1.15–1.56]), and skin disease (aOR, 5.06 [95% CI, 3.96–6.46]). Sex differences existed for urinary tract infection (men: aOR, 14.9 [95% CI, 11.5–19.3]; women: aOR, 8.00 [95% CI, 6.53–9.81]) and chronic respiratory disease (men = aOR, 1.36 [95% CI, 1.14–1.63]; women = aOR, 0.97 [95% CI, 0.84–1.13]). Conclusions Deaths attributed to MS were commonly caused by infection (especially respiratory and urinary tract–related); conditions associated with advanced disability and immobility, such as aspiration pneumonia; and chronic respiratory disease in men. All are potentially modifiable; interventions that reduce the frequency or severity of these complications could improve survival in MS.