Evaluation of a Revised Curriculum: A Four-Year Qualitative Study of Student Perceptions

Following curricular revisions at the Virginia Commonwealth University School of Dentistry, this longitudinal study was designed to determine students\u27 perceptions of their educational experience in the revised curriculum. A SWOT (Strengths, Weaknesses, Opportunities, and Threats) open-ended response questionnaire was administered to students in the class of 2011 (N=89) in January of each academic year, 2008 through 2011, followed by focus groups three months prior to graduation. The overall response rate for the questionnaire was 69 percent, and a total of fourteen students participated in four focus groups. Cumulatively, 1,382 responses (SWOT=984 and focus groups=398) were qualitatively analyzed, and five themes emerged: 1) early clinical experiences led to a perceived readiness for direct patient care; 2) the pace and organization of the revised condensed preclinical curriculum were perceived as hectic yet were appreciated as necessary preparation for patient care; 3) most faculty members were seen as committed to student learning, but a few were reported to have poor teaching skills and attitudes when interacting with students; 4) a perceived lack of patients led to fewer clinical experiences and a decrease in student confidence; and 5) some curricular content was seen to be redundant and irrelevant to future practice. The results indicate that the students were satisfied with aspects of their educational experience, suggesting the revised curriculum\u27s preliminary success in meeting its goals of earlier patient care, a condensed preclinical curriculum, and a student-friendly environment. As the curriculum is adapted in response to student feedback, ongoing evaluation is necessary and should be complemented by other evaluation indicators such as faculty perceptions and student learning outcomes

Neurofilament Light Protein as a Potential Blood Biomarker for Huntington's Disease in Children

BACKGROUND: Juvenile-onset Huntington's disease (JOHD) is a rare and particularly devastating form of Huntington's disease (HD) for which clinical diagnosis is challenging and robust outcome measures are lacking. Neurofilament light protein (NfL) in plasma has emerged as a prognostic biomarker for adult-onset HD. METHODS: We performed a retrospective analysis of samples and data collected between 2009 and 2020 from the Kids-HD and Kids-JHD studies. Plasma samples from children and young adults with JOHD, premanifest HD (preHD) mutation carriers, and age-matched controls were used to quantify plasma NfL concentrations using ultrasensitive immunoassay. RESULTS: We report elevated plasma NfL concentrations in JOHD and premanifest HD mutation-carrying children. In pediatric HD mutation carriers who were within 20 years of their predicted onset and patients with JOHD, plasma NfL level was associated with caudate and putamen volumes. CONCLUSIONS: Quantifying plasma NfL concentration may assist clinical diagnosis and therapeutic trial design in the pediatric population. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society

Subjective and Objective Binge Eating in Relation to Eating Disorder Symptomatology, Depressive Symptoms, and Self-Esteem among Treatment-Seeking Adolescents with Bulimia Nervosa: Subjective and Objective Binge Eating

This study investigated the importance of the distinction between objective (OBE) and subjective binge eating (SBE) among 80 treatment-seeking adolescents with bulimia nervosa (BN). We explored relationships among OBEs, SBEs, eating disorder (ED) symptomatology, depression, and self-esteem using two approaches. Group comparisons showed that OBE and SBE groups did not differ on ED symptoms or self-esteem; however, the SBE group had significantly greater depression. Examining continuous variables, OBEs (not SBEs) accounted for significant unique variance in global ED pathology, vomiting, and self-esteem. SBEs (not OBEs) accounted for significant unique variance in restraint and depression. Both OBEs and SBEs accounted for significant unique variance in eating concern; neither accounted for unique variance in weight/shape concern, laxative use, diuretic use, or driven exercise. Loss of control, rather than amount of food, may be most important in defining binge eating. Additionally, OBEs may indicate broader ED pathology while SBEs may indicate restrictive/depressive symptomatology

Psychometric properties of the Norwegian version of the Safety Attitudes Questionnaire (SAQ), Generic version (Short Form 2006)

<p>Abstract</p> <p>Background</p> <p>How to protect patients from harm is a question of universal interest. Measuring and improving safety culture in care giving units is an important strategy for promoting a safe environment for patients. The Safety Attitudes Questionnaire (SAQ) is the only instrument that measures safety culture in a way which correlates with patient outcome. We have translated the SAQ to Norwegian and validated the translated version. The psychometric properties of the translated questionnaire are presented in this article.</p> <p>Methods</p> <p>The questionnaire was translated with the back translation technique and tested in 47 clinical units in a Norwegian university hospital. SAQ's (the Generic version (Short Form 2006) the version with the two sets of questions on perceptions of management: on unit management and on hospital management) were distributed to 1911 frontline staff. 762 were distributed during unit meetings and 1149 through the postal system. Cronbach alphas, item-to-own correlations, and test-retest correlations were calculated, and response distribution analysis and confirmatory factor analysis were performed, as well as early validity tests.</p> <p>Results</p> <p>1306 staff members completed and returned the questionnaire: a response rate of 68%. Questionnaire acceptability was good. The reliability measures were acceptable. The factor structure of the responses was tested by confirmatory factor analysis. 36 items were ascribed to seven underlying factors: Teamwork Climate, Safety Climate, Stress Recognition, Perceptions of Hospital Management, Perceptions of Unit Management, Working conditions, and Job satisfaction. Goodness-of-Fit Indices showed reasonable, but not indisputable, model fit. External validity indicators – recognizability of results, correlations with "trigger tool"-identified adverse events, with patient satisfaction with hospitalization, patient reports of possible maltreatment, and patient evaluation of organization of hospital work – provided preliminary validation.</p> <p>Conclusion</p> <p>Based on the data from Akershus University Hospital, we conclude that the Norwegian translation of the SAQ showed satisfactory internal psychometric properties. With data from one hospital only, we cannot draw strong conclusions on its external validity. Further validation studies linking the SAQ-scores to patient outcome data should be performed.</p

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study.

Improvements in immunosuppression have modified short-term survival of deceased-donor allografts, but not their rate of long-term failure. Mismatches between donor and recipient HLA play an important role in the acute and chronic allogeneic immune response against the graft. Perfect matching at clinically relevant HLA loci does not obviate the need for immunosuppression, suggesting that additional genetic variation plays a critical role in both short- and long-term graft outcomes. By combining patient data and samples from supranational cohorts across the United Kingdom and European Union, we performed the first large-scale genome-wide association study analyzing both donor and recipient DNA in 2094 complete renal transplant-pairs with replication in 5866 complete pairs. We studied deceased-donor grafts allocated on the basis of preferential HLA matching, which provided some control for HLA genetic effects. No strong donor or recipient genetic effects contributing to long- or short-term allograft survival were found outside the HLA region. We discuss the implications for future research and clinical application

Active, but not passive cigarette smoking was inversely associated with mammographic density

The opposing carcinogenic and antiestrogenic properties of tobacco smoke may explain why epidemiologic studies have not consistently reported positive associations for active smoking and breast cancer risk. A negative relation between mammographic density, a strong breast cancer risk factor, and active smoking would lend support for an antiestrogenic mechanism. We used multivariable linear regression to assess the associations of active smoking and secondhand smoke (SHS) exposure with mammographic density in 799 pre- and early perimenopausal women in the Study of Women’s Health Across the Nation (SWAN). We observed that current active smoking was associated with 7.2% lower mammographic density, compared to never active smoking and no SHS exposure (p = 0.02). Starting to smoke before 18 years of age and having smoked ≥20 cigarettes/day were also associated with statistically significantly lower percent densities. Among nulliparous women having smoked ≥20 cigarettes/day was associated with 23.8% lower density, compared to having smoked ≤9 cigarettes/day (p &lt; 0.001). Our findings support the hypothesis that tobacco smoke exerts an antiestrogenic effect on breast tissue, but counters the known increased risk of breast cancer with smoking prior to first full-term birth. Thus, our data suggest that the antiestrogenic but not the carcinogenic effects of smoking may be reflected by breast density

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons