Presentation, Prognostic Factors and Patterns of Failure in Adult Rhabdomyosarcoma

Purpose: The purpose of our study is to retrospectively review our institutional experience with adult rhabdomyosarcoma (RMS) to determine presentation, prognostic factors and patterns of failure in this disease

Case-control study of vulvar vestibulitis risk associated with genital infections.

OBJECTIVE: To evaluate the risk of vulvar vestibulitis syndrome (VVS) associated with genital infections in a case-control study. METHODS: Diagnosed cases with VVS (n = 69) and age-frequency-matched healthy controls (n = 65) were enrolled from gynecology clinics in a university medical hospital during 1999. They were compared for potential risk factors and symptoms of disease. RESULTS: VVS cases had a significantly higher risk of physician-reported bacterial vaginosis (BV) (odds ratio, OR = 9.4), Candida albicans (OR = 5.7), pelvic inflammatory disease (PID) (OR = 11.2), trichomoniasis (OR = 20.6), and vulvar dysplasia (OR = l5.7) but no risk associated with human papillomavirus (HPV), ASCUS, cervical dysplasia, genital warts, chlamydia, genital herpes or gonorrhea. Genital symptoms reported significantly more often with VVS included vulvar burning (91 vs. 12%), dyspareunia (81 vs. 15%), vulvar itching (68 vs. 23%) and dysuria (54 vs. 19%) (p < 0.0001). CONCLUSION: A history of genital infections is associated with an increased risk of VVS. Long-term follow-up case-control studies are needed to elucidate etiologic mechanisms, methods for prevention and effective treatment

A Large, First-Year, Introductory, Multi-Sectional Biological Concepts of Health Course Designed to Develop Skills and Enhance Deeper Learning

Large first-year biology classes, with their heavy emphasis on factual content, contribute to low student engagement and misrepresent the dynamic, interdisciplinary nature of biological science. We sought to redesign a course to deliver fundamental biology curriculum through the study of health, promote skills development, and encourage a deeper level of learning for a large, multi-section first-year class. We describe the Biological Concepts of Health course designed to encourage higher-order learning and teach oral communication and independent learning skills to large numbers of first-year students. We used the Blooming Biology Tool to determine the cognitive skills level assessed in the newly developed course and the courses it replaced. This evidence-based approach demonstrated that our new course design achieved the goal of encouraging a deeper level of cognition, and further, successfully introduced both oral communication and independent learning skills in large first-year classes. &nbsp;En mettant l’emphase sur un contenu factuel, les grandes classes de biologie de première année contribuent au faible engagement des élèves et donnent une représentation imprécise de la nature dynamique et interdisciplinaire des sciences de la biologie. Afin d’offrir un programme fondamental en biologie par l’étude de la santé, de promouvoir le perfectionnement des compétences et d’encourager un niveau d’apprentissage marqué, nous avons repensé un cours pour une grande classe de première année contenant plusieurs sous-groupes. Nous décrivons le cours «&nbsp;Biological Concepts of Health&nbsp;» conçu pour encourager l’apprentissage supérieur, ainsi que pour enseigner la communication orale et les habiletés d’apprentissage individualisé à un grand nombre d’étudiants de première année. Pour déterminer le niveau d’habiletés cognitives évalué dans ce cours nouvellement conçu et les cours qu’il remplace, nous avons utilisé le «&nbsp;Blooming Biology Tool&nbsp;». Cette approche éprouvée démontre que ce nouveau cours a atteint son but d’encourager l’approfondissement des connaissances et, par ailleurs, a réussi à introduire la communication orale, de même que les habiletés d’apprentissage individualisé aux grandes classes de première année

Can Healthcare Assistant Training (CHAT) improve the relational care of older people? Study protocol for a pilot cluster-randomised controlled trial

Background People aged 75 years and over account for one in four of all hospital admissions. There has been increasing recognition of problems in the care of older people, particularly in hospitals. Evidence suggests that older people judge the care they receive in terms of kindness, empathy, compassion, respectful communication and being seen as a person not just a patient. These are aspects of care to which we refer when we use the term 'relational care'. Healthcare assistants deliver an increasing proportion of direct care to older people, yet their training needs are often overlooked. Methods/design This study will determine the acceptability and feasibility of a cluster randomised controlled trial of 'Older People's Shoes' a two-day training intervention for healthcare assistants caring for older people in hospital. Within this pilot, two-arm, parallel, cluster randomised controlled trial, healthcare assistants within acute hospital wards are randomised to either the two-day training intervention or training as usual. Registered nurses deliver 'Older People's Shoes' over two days, approximately one week apart. It contains three components: experiential learning about ageing, exploration of older people's stories, and customer care. Outcomes will be measured at the level of patient (experience of emotional care and quality of life during their hospital stay), healthcare assistant (empathy and attitudes towards older people), and ward (quality of staff/patient interaction). Semi-structured interviews of a purposive sample of healthcare assistants receiving the intervention, and all trainers delivering the intervention, will be undertaken to gain insights into the experiences of both the intervention and the trial, and its perceived impact on practice. Trial registration The study was registered as an International Standard Randomised Contolled Trial (ISRCTN10385799) on 29 December 2014

Numbers are not the whole story: a qualitative exploration of barriers and facilitators to increased physical activity in a primary care based walking intervention.

BACKGROUND: The majority of mid-life and older adults in the UK are not achieving recommended physical activity levels and inactivity is associated with many health problems. Walking is a safe, appropriate exercise. The PACE-UP trial sought to increase walking through the structured use of a pedometer and handbook, with and without support from a practice nurse trained in behaviour change techniques (BCTs). Understanding barriers and facilitators to engagement with a primary care based physical activity intervention is essential for future trials and programmes. METHODS: We conducted semi-structured telephone interviews using a topic guide with purposive samples of participants who did and did not increase their walking from both intervention groups. Interviews were audio-recorded, transcribed and coded independently by researchers prior to performing a thematic analysis. Responsiveness to the specific BCTs used was also analysed. RESULTS: Forty-three trial participants were interviewed in early 2014. Almost all felt they had benefitted, irrespective of their change in step-count, and that primary care was an appropriate setting.Important facilitators included a desire for a healthy lifestyle, improved physical health, enjoyment of walking in the local environment, having a flexible routine allowing for an increase in walking, appropriate self and external monitoring and support from others.Important barriers included physical health problems, an inflexible routine, work and other commitments, the weather and a mistrust of the monitoring equipment.BCTs that were reported to have the most impact included: providing information about behaviour-health link; prompting self-monitoring and review of goals and outcomes; providing feedback; providing specific information about how to increase walking; planning social support/change; and relapse prevention. Rewards were unhelpful. CONCLUSIONS: Despite our expectation that there would be a difference between the experiences of those who did and did not objectively increase their walking, we found that most participants considered themselves to have succeeded in the trial and benefitted from taking part. Barriers and facilitators were similar across demographic groups and trial outcomes. Findings indicated several BCTs on which PA trial and programme planners could focus efforts with the expectation of greatest impact as well as strong support for primary care as an appropriate venue

The development and validation of a scoring tool to predict the operative duration of elective laparoscopic cholecystectomy

Background: The ability to accurately predict operative duration has the potential to optimise theatre efficiency and utilisation, thus reducing costs and increasing staff and patient satisfaction. With laparoscopic cholecystectomy being one of the most commonly performed procedures worldwide, a tool to predict operative duration could be extremely beneficial to healthcare organisations. Methods: Data collected from the CholeS study on patients undergoing cholecystectomy in UK and Irish hospitals between 04/2014 and 05/2014 were used to study operative duration. A multivariable binary logistic regression model was produced in order to identify significant independent predictors of long (> 90 min) operations. The resulting model was converted to a risk score, which was subsequently validated on second cohort of patients using ROC curves. Results: After exclusions, data were available for 7227 patients in the derivation (CholeS) cohort. The median operative duration was 60 min (interquartile range 45–85), with 17.7% of operations lasting longer than 90 min. Ten factors were found to be significant independent predictors of operative durations > 90 min, including ASA, age, previous surgical admissions, BMI, gallbladder wall thickness and CBD diameter. A risk score was then produced from these factors, and applied to a cohort of 2405 patients from a tertiary centre for external validation. This returned an area under the ROC curve of 0.708 (SE = 0.013, p  90 min increasing more than eightfold from 5.1 to 41.8% in the extremes of the score. Conclusion: The scoring tool produced in this study was found to be significantly predictive of long operative durations on validation in an external cohort. As such, the tool may have the potential to enable organisations to better organise theatre lists and deliver greater efficiencies in care

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. We performed an inverse χ(2) meta-analysis across ten pediatric-age-of-onset autoimmune diseases (pAIDs) in a case-control study including more than 6,035 cases and 10,718 shared population-based controls. We identified 27 genome-wide significant loci associated with one or more pAIDs, mapping to in silico-replicated autoimmune-associated genes (including IL2RA) and new candidate loci with established immunoregulatory functions such as ADGRL2, TENM3, ANKRD30A, ADCY7 and CD40LG. The pAID-associated single-nucleotide polymorphisms (SNPs) were functionally enriched for deoxyribonuclease (DNase)-hypersensitivity sites, expression quantitative trait loci (eQTLs), microRNA (miRNA)-binding sites and coding variants. We also identified biologically correlated, pAID-associated candidate gene sets on the basis of immune cell expression profiling and found evidence of genetic sharing. Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of type 1, 2 and 17 helper T cells (TH1, TH2 and TH17), JAK-STAT, interferon and interleukin in multiple autoimmune diseases

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

Persistenza della infezione da HPV in donne in età postmenopausale

Obiettivo: nelle donne giovani, la persistenza del papillomavirus umano (HPV) si associa a un aumentato rischio di sviluppo di SIL e di cancro della cervice uterina. Poiché nelle donne più anziane in postmenopausa questa associazione ha ricevuto scarsa attenzione, abbiamo valutato la persistenza dell’HPV in questo gruppo di età. Metodi: donne (n=105) di età compresa tra 45 e 64 anni sono state esaminate annualmente per 7 anni per valutare la presenza di HPV in campioni citologici cervicali. Per evidenziare i tipi di HPV sono state impiegate PCR, ibridizzazione dot blot e sequenziamento del DNA. Risultati: la prevalenza cumulativa di HPV è risultata pari al 34%, e nel 24% dei casi erano presenti tipi oncogeni ad alto rischio del virus, che sono associati a neoplasie genitali. I tipi oncogeni più comuni erano HPV- 16 (72%) e HPV-31 (16%). Il tasso di persistenza dell’infezione era del 16%. Nessun fattore di rischio era associato con la ripetuta positività per il virus. Conclusioni: le donne in postmenopausa sono persistentemente infettate in notevole proporzione con HPV oncogeni. Ciò indica la necessità di eseguire, in esse, screening continui per evidenziare lesioni genitali precancerose