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A group-forming course content-focused icebreaker for life science classrooms
No full textCollaboration and communication are important competencies for undergraduate life science education, as noted in the Vision and Change in Undergraduate Biology Education report. However, initiating collaboration and communication in the classroom can be an anxiety-inducing experience for many students. In contrast to traditional-style icebreakers, we introduce a course content-focused icebreaker activity that served as a group-forming undertaking on the first day of class. We developed four sets of handouts (icebreaker tickets), each having a common course theme (e.g., microbiology, cell biology, physiological system infections/disorders, virology). Students were randomly provided with a ticket at the beginning of the course, and they worked to establish groups with their peers, based on their own interpretation of the ticket’s content and rationalization of a grouping scheme. Student feedback and engagement data collected from implementation at three independent institutions were largely positive, where students reported the activity to be an effective tool for building a course content-focused community of learners. The icebreaker tickets and instructor’s notes disseminated in this manuscript can be adapted to fit educators’ course goals and help set the tone for the first day of the class and beyond that fosters communication and collaboration among student
Poor sleep and hepatic steatosis contribute to poorer quality of life in people with human immunodeficiency virus
No full textBackground: Metabolic dysfunction-associated steatotic liver disease (MASLD) and poor sleep are common among people with human immunodeficiency virus (PWH) and may mediate the impaired health-related quality of life (HRQoL) seen in PWH and in people with MASLD. However, the prevalence and burden of poor sleep in PWH and MASLD is not well described.
Aim: To study the prevalence and multi-faceted relationship between MASLD, poor sleep, and HRQoL in PWH.
Methods: In this cross-sectional, observational study, adult PWH and no other known cause of liver disease underwent controlled attenuated parameter (for hepatic fat) and liver stiffness measurement via vibration-controlled transient elastography at eight United States. centers (July 2021 to November 2024). Sleep quality was assessed by Pittsburgh Sleep Quality Index (PSQI) and HRQoL by Rand 36-Item Short Form Health Survey. Outcomes were compared using standard methods. Multivariate regression examined associations between sleep quality, HRQoL, and clinical factors.
Results: PWH (n = 1005) on suppressive antiretroviral therapy had mean age 55 years and were 65% non-White and 27% cisgender female; 77% had body mass index (BMI) > 25 kg/m2, 44% had MASLD (controlled attenuated parameter ≥ 263 dB/minute), 13% liver fibrosis (liver stiffness measurement ≥ 8 kPa) and 64% poor sleep quality (PSQI > 5). The mean ± SD of PSQI was 6.6 ± 4.1, with no differences by MASLD status; MASLD + fibrosis was associated with poorer sleep. HRQoL was low (< 50) overall: A step-wise decline in physical component summary (PCS) scores was associated with worse liver disease, from no MASLD to MASLD + fibrosis. Among poor sleepers, a similar step-wise PCS worsening occurred. In multivariate analysis, MASLD + fibrosis was associated with lower PCS and poor sleep was associated with worse physical and mental HRQoL.
Conclusion: In this cohort of PWH, there was no association between MASLD and sleep quality. Poor sleep, MASLD and liver fibrosis were independently associated with poor HRQoL
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
No full textObsessive-compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along with D1 and D2 type dopamine receptor-containing medium spiny neurons. OCD genetic risk was shared with 65 of 112 additional phenotypes, including all the psychiatric disorders we examined. In particular, OCD shared genetic risk with anxiety, depression, anorexia nervosa and Tourette syndrome and was negatively associated with inflammatory bowel diseases, educational attainment and body mass index
P33. A Multi-hospital Network Analysis of Long-term Outcomes and Predictors of Lymphedema Following Immediate Lymphatic Reconstruction and Axillary Lymph Node Dissection
No full textPURPOSE: Breast cancer-related lymphedema (BCRL) significantly affects quality-of-life after axillary lymph node dissection (ALND). Immediate lymphatic reconstruction (ILR) may reduce BCRL incidence, but long-term outcomes and predictors are unclear. This study sought to compare long-term BCRL prevalence in patients undergoing ILR with pooled estimates from ALND alone and to identify factors associated with BCRL after ILR.
METHODS: We retrospectively studied consecutive patients who underwent ILR following ALND between January 2020 and March 2024 across six hospitals in the Indiana University network. Primary outcome was BCRL prevalence, defined as ≥2cm limb difference at two contiguous points. Secondary outcomes included BCRL predictors, postoperative complications, and compression garment use.
RESULTS: Among 150 patients (mean age 51.2±10.6 years; BMI 29.6±7.1 kg/m²; follow-up 17.9±10.8 months) that underwent ILR, cumulative BCRL incidence was 10.7% (n=16). Compared to pooled estimates from 10,774 patients undergoing ALND alone, our ILR cohort had significantly lower BCRL rates: 2% vs. 16.5% (24 months) (p < 0.001). Compression was used in 29% following ILR, with 64.6% (n=28) not meeting lymphedema diagnostic criteria. Breast-related complications occurred in 29.3% (n=44). Patients with obesity (56.3% vs. 38.3%, p=0.179) and postoperative radiotherapy (93.8% vs. 82.8%, p=0.260) had higher rates of lymphedema following ILR, although not statistically significant. Multivariable analysis did not identify any independent predictors of BCRL among ILR patients.
CONCLUSION: ILR following ALND is associated with significantly lower rates of BCRL compared to ALND alone. The prevalence of lymphedema increases over time with longer term follow-up
Evaluating Provider Attitudes and Usability Ratings Across HANDS 3-Day Provider Training
No full textThis project evaluated the effectiveness of a 3-day provider training program offered by HANDS in Autism®, focusing on changes in provider attitudes toward evidence-based practices and the perceived usability of intervention strategies. Using survey data collected across three timepoints—pre-training, post-training, and follow-up—the study employed longitudinal analysis via Python in Jupyter Notebook after extracting and cleaning data from REDCap. Results showed consistent improvement in provider openness to evidence-based practices and sustained high usability ratings for foundational intervention strategies. The project also included documentation of standardized data analysis procedures and development of Power BI dashboards for outcome visualization. This work enhanced the intern’s skills in real-world data handling, healthcare training evaluation, and applied analytics within interdisciplinary autism service initiatives
Maturation of human cardiac organoids enables complex disease modeling and drug discovery
No full textMaturation of human pluripotent stem (hPS) cell-derived cardiomyocytes is critical for their use as a model system. Here we mimic human heart maturation pathways in the setting of hPS cell-derived cardiac organoids (hCOs). Specifically, transient activation of 5' AMP-activated protein kinase and estrogen-related receptor enhanced cardiomyocyte maturation, inducing expression of mature sarcomeric and oxidative phosphorylation proteins, and increasing metabolic capacity. hCOs generated using the directed maturation protocol (DM-hCOs) recapitulate cardiac drug responses and, when derived from calsequestrin 2 (CASQ2) and ryanodine receptor 2 (RYR2) mutant hPS cells exhibit a pro-arrhythmia phenotype. These DM-hCOs also comprise multiple cell types, which we characterize and benchmark to the human heart. Modeling of cardiomyopathy caused by a desmoplakin (DSP) mutation resulted in fibrosis and cardiac dysfunction and led to identifying the bromodomain and extra-terminal inhibitor INCB054329 as a drug mitigating the desmoplakin-related functional defect. These findings establish DM-hCOs as a versatile platform for applications in cardiac biology, disease and drug screening
Patient Perceptions of Pharmacist-Provided Tobacco Treatment at a Federally Qualified Health Center
No full textBackground: Tobacco use remains a leading cause of preventable death and disease in the US. Pharmacists, due to their accessibility and expertise, are well-positioned to provide tobacco treatment, particularly in Federally Qualified Health Centers (FQHCs).
Objective: This study aimed to characterize patient perceptions of pharmacist-delivered tobacco treatment services, with medication prescribing, within an FQHC setting in Indiana.
Methods: Applying a qualitative approach, guided by the SERVQUAL and 5 Rights of Clinical Decision Support models, semi-structured interviews were conducted with patients who had recently completed follow-up appointments after receiving pharmacist-provided tobacco treatment services. The interviews assessed service quality, appropriateness, and patient satisfaction. Participants were connected to the pharmacist-delivered tobacco treatment services either through self-identification of interest at intake or through a referral from their primary care provider. Pharmacists utilized the 5 A's approach (Ask, Advise, Assess, Assist, Arrange) to guide the intervention, which included the provision of behavioral counseling and prescribing tobacco treatment medications, when appropriate. Follow-up appointments were scheduled within 14 days of the initial counseling to assess progress and adjust treatment plans. Qualitative data were analyzed using inductive and deductive thematic analysis.
Results: Interviews were conducted with 15 patients. Identified themes included satisfaction with the service, the inclusion of patients in treatment decisions, pharmacists' commitment to patient success, and the appropriateness of medication counseling and follow-up care. Results indicated high levels of patient satisfaction and perceived value in the pharmacist-provided services. Participants appreciated the personalized care and accessibility of pharmacists.
Conclusions: The study highlights patient perceptions of the effectiveness of pharmacist-led tobacco treatment services and provides insights for refinement of services to better meet patient needs
Folic Acid Prescribing and Reproductive Counseling Practices of Child Neurologists for Women With Epilepsy
No full textBackground: Women with epilepsy (WWE) experience stigma related to reproductive health. Pediatric neurologists are often uncomfortable providing age-appropriate reproductive health counseling (RHC) and prescribing folic acid (FA). We studied RHC and FA prescribing practices for child neurologists and provide a literature review for FA dosing maximizing benefit for WWE and their children.
Methods: We performed a retrospective cross-sectional study of RHC and FA prescribing by child neurologists at our center for 227 consecutive WWE from January to June 2022. We studied patient age, teratogenic risk of antiseizure medications (ASMs), number of ASMs, presence/absence of intellectual disability (ID), and physician board certification. ASM teratogenic risk was determined utilizing the North American Antiepileptic Drug Pregnancy Registry (NAADPR) database with ≥2.5% threshold of major malformation for high risk, <2.5% for low risk, and no NAADPR data for unknown risk.
Results: Pediatric neurologists inconsistently prescribe FA (11%) and document RHC (10%). WWE on valproic acid receive FA more often (31% vs 9.6%, P = 0.004, χ2 = 8.28) but similar RHC to WWE on other ASMs (P = 0.080, χ2 = 3.06). Epileptologists do not prescribe FA more than general neurologists (P = 0.65, χ2 = 0.19), and general neurologists document RHC more often (18% vs 4%, P = 0.00047, χ2 = 4.21). WWE aged 16-18 years receive RHC more than WWE aged 12-15 years (12.7% vs 10.5%, P = 0.025, χ2 = 4.96) with no difference in FA prescriptions (P = 0.60, χ2 = 0.27). Patients with ID receive FA less often (6% vs 15%, P = 0.035, χ2 = 4.44) with no difference in RHC (P = 0.29, χ2 = 1.09).
Conclusions: We quantify a significant gap in care for WWE to facilitate quality improvement initiatives. Preconceptional FA 1 mg orally daily seems appropriate for WWE with present knowledge
Biomedical literature-based clinical phenotype definition discovery using large language models
No full textElectronic health record (EHR) phenotyping is a high-demand task because most phenotypes are not usually readily defined. The objective of this study is to develop an effective text-mining approach that automatically extracts clinical phenotype definitions-related sentences from biomedical literature. Abstract-level and full-text sentence-level classifiers were developed for clinical phenotype discovery from PubMed. We compared the performance of the abstract-level classifier on machine learning algorithms: support vector machine (SVM), logistic regression (LR), naïve Bayes, and decision tree. SVM classifier showed the best performance (F-measure = 98%) in identifying clinical phenotype-relevant abstracts. It predicted 459 406 clinical phenotype-related abstracts. For the full-text sentence-level classifier, we compared the performance of SVM, LR, naïve Bayes, decision trees, convolutional neural networks, Bidirectional Encoder Representations from Transformers (BERT), and Bidirectional Encoder Representations from Transformers for Biomedical Text Mining (BioBERT). BioBERT model was the best performer among the full-text sentence-level classifiers (F-measure = 91%). We used these two optimal classifiers for large-scale screening of the PubMed database, starting with abstract retrieval and followed by predicting clinical phenotype-related sentences from full texts. The large-scale screening predicted over two million clinical phenotype-related sentences. Lastly, we developed a knowledgebase using positively predicted sentences, allowing users to query clinical phenotype-related sentences with a phenotype term of interest. The Clinical Phenotype Knowledgebase (CliPheKB) enables users to search for clinical phenotype terms and retrieve sentences related to a specific clinical phenotype of interest (https://cliphekb.shinyapps.io/phenotype-main/). Building upon prior methods, we developed a text mining pipeline to automatically extract clinical phenotype definition-related sentences from the literature. This high-throughput phenotyping approach is generalizable and scalable, and it is complementary to existing EHR phenotyping methods