ped_draw: pedigree drawing with ease.

BACKGROUND: Pedigree files are ubiquitously used within bioinformatics and genetics studies to convey critical information about relatedness, sex and affected status of study samples. While the text based format of ped files is efficient for computational methods, it is not immediately intuitive to a bioinformatician or geneticist trying to understand family structures, many of which encode the affected status of individuals across multiple generations. The visualization of pedigrees into connected nodes with descriptive shapes and shading provides a far more interpretable format to recognize visual patterns and intuit family structures. Despite these advantages of a visual pedigree, it remains difficult to quickly and accurately visualize a pedigree given a pedigree text file. RESULTS: Here we describe ped_draw a command line and web tool as a simple and easy solution to pedigree visualization. Ped_draw is capable of drawing complex multi-generational pedigrees and conforms to the accepted standards for depicting pedigrees visually. The command line tool can be used as a simple one liner command, utilizing graphviz to generate an image file. The web tool, https://peddraw.github.io , allows the user to either: paste a pedigree file, type to construct a pedigree file in the text box or upload a pedigree file. Users can save the generated image file in various formats. CONCLUSIONS: We believe ped_draw is a useful pedigree drawing tool that improves on current methods due to its ease of use and approachability. Ped_draw allows users with various levels of expertise to quickly and easily visualize pedigrees.

Influence of resident involvement on fluoroscopy time and ionizing radiation exposure in fluoroscopy-guided spinal procedures.

BACKGROUND: Fluoroscopic guidance has become the standard for a variety of medical procedures. Mastering these techniques requires practice, which may entail additional radiation for patients and providers. Despite their widespread use, the literature examining factors influencing radiation exposure in fluoroscopically guided pain procedures is scarce. OBJECTIVE: To evaluate the influence of resident involvement on radiation exposure during fluoroscopy-guided spinal interventions. DESIGN: Single-center, observational study. SETTING: Outpatient physiatry clinic in a teaching hospital. PATIENTS: All patients who received cervical or lumbar facet block(s) (FBs), transforaminal epidural steroid injection(s) (TFESIs) without digital subtraction, or a caudal epidural (CE) during the study period were included. INTERVENTIONS: Resident involvement in the procedures: absent, observing, or participating. MAIN OUTCOME MEASURES: Machine-indicated fluoroscopy time (seconds) and radiation dose (milligrays [mGy]). RESULTS: Two hundred ninety six procedures were included: 188 FBs (58 cervical, 130 lumbar), 48 CEs, and 60 TFESIs. For lumbar FBs, fluoroscopy time and radiation dose increased significantly when residents performed them (meantime = 24.5 s, confidence interval [CI] = 20.4-28.7; meandose = 3.53 mGy, CI = 2.57-4.49) compared to when they observed (meantime = 9.9 s, CI = 8.1-11.7; meandose = 1.28 mGy, CI = 0.98-1.59) (mean difference: time = 14.63 s, CI = 9.31-19.94; dose = 2.25 mGy, CI = 1.17-3.33) and were absent during the procedure (meantime = 12.9 s, CI = 11.1-14.6; meandose = 1.65 mGy, CI = 1.40-1.89) (mean difference: time = 11.67 s, CI = 7.35-15.98; dose = 1.88 mGy, CI = 1.01-2.76). In the case of TFESIs, time, but not dose, increased significantly when residents observed (meantime = 39.1 s, CI = 30.7-47.6; meandose = 6.73 mGy, CI = 3.39-10.07) compared to when they were absent (meantime = 27.1 s, CI = 22.4-31.8; meandose = 4.41 mGy, CI = 3.06-5.76 (mean difference: time = 11.99 s, CI = 1.37-22.61; dose = 2.32 mGy, CI = -1.20-5.84). Finally, resident involvement did not significantly affect the outcomes for CEs (ptime = .032, pdose = .74) and cervical FBs (ptime = .64, pdose = .68). CONCLUSION: Resident participation affected lumbar FBs the most, with an increase in both fluoroscopy time and radiation dose.

Perspectives of hospital pharmacists on quality improvement initiatives in patient care: A pilot study from one healthcare system in Canada.

Background: Quality Improvement (QI) is any systematic process that seeks to improve patient safety or clinical effectiveness in healthcare. Although hospital pharmacists positively contribute to QI initiatives, there is no information available regarding Canadian hospital pharmacists' involvement and perspectives with QI. Objectives: The primary objective of the study was to describe the QI experiences (including attitudes, enablers and barriers) of hospital pharmacists employed by the Lower Mainland Pharmacy Services (LMPS) in British Columbia. Methods: This research study used an exploratory cross-sectional survey. A 30-item survey was developed to measure QI experiences of hospital pharmacists including prior QI experiences, their attitudes towards pursuing QI initiatives, and their perceived enablers and barriers to participating in QI initiatives in hospital settings. Results: Forty-one pharmacists responded (response rate of 14%). Thirty-eight participants (93%) indicated that they were familiar with the concept of QI. All participants (100%) reported that it was important for pharmacists to be involved with QI despite the general lack of formal QI training among the participants, and 40 participants (98%) agreed that QI was necessary to advance patient care. Moreover, 21 participants (51%) showed interest in leading QI initiatives, while 29 (71%) would participate in QI initiatives. Participants identified several individual and organizational barriers that hindered hospital pharmacists from pursuing QI initiatives. Conclusion: Our findings suggest that hospital pharmacists in LMPS would like to be actively involved with QI initiatives; however, individual and organizational barriers must be addressed in order to facilitate widespread adoption of QI practices.

Teaching quality improvement concepts to pharmacy students using the Evidence-based Practice for Improving Quality (EPIQ) workshop.

BACKGROUND AND PURPOSE: Despite the benefits of quality improvement (QI) training, there is a scarcity of information on QI teaching formats for undergraduate pharmacy education. The Evidence-based Practice for Improving Quality (EPIQ) workshop was evaluated as a teaching format for a group of multi-year undergraduate pharmacy students, assessing knowledge acquisition and learner reactions. EDUCATIONAL ACTIVITY AND SETTING: Using a convergent mixed-method analysis, 10-item pre- and post-workshop multiple-choice questionnaires measured students' knowledge acquisition of foundational QI concepts. A six-item pre- and post-workshop survey and a voluntary post-workshop focus group evaluated students' attitudes towards QI training and the teaching format. Mann-Whitney U non-parametric test was used to analyze the quantitative data, while thematic analysis was applied to analyze the qualitative data. FINDINGS: Twenty-nine pharmacy students participated in the workshop. There was a statistically significant improvement in pharmacy students' QI knowledge before and after participating in the workshop (77% vs. 86%, P = .008). The evaluation of the EPIQ teaching format resulted in three important findings: (1) undergraduate pharmacy students identified a QI learning need; (2) the EPIQ workshop effectively provided foundational QI literacy for all pharmacy student years using a "learning by sharing" methodology and pharmacy-specific case studies; and (3) interested students may benefit from an experiential elective to apply QI techniques. SUMMARY: The perceived value of QI training for pharmacy students using the EPIQ workshop was demonstrated: students expressed an interest in lifelong learning and a desire to pursue QI projects at school, during a clinical rotation, or at work.

Socioeconomic status influences participation in cancer prehabilitation and preparation for surgical recovery: A pooled retrospective analysis using a validated area-level socioeconomic status metric.

BACKGROUND: Prehabilitation employs exercise, nutrition, and psychological interventions to optimize physiological status in preparation for surgery. First, we described the extent to which material deprivation index score (MDIS) influenced prehabilitation participation. Second, we evaluated the extent to which prehabilitation influenced recovery as compared to control. METHODS: Pooled patient records from prospective multimodal prehabilitation studies in oncologic surgery were retrospectively examined. Patient postal codes were linked to their MDIS, a validated area-level socioeconomic status (SES) metric, as quintiles 1-5 (1 = highest SES). Functional capacity was evaluated with the 6-min walking test (6MWT) at baseline, before, and 8 weeks post-surgery. Influence of prehabilitation on length of hospital stay (LOS) was explored using generalized linear models with a negative binomial distribution adjusted for age, sex, surgical population, and MDIS. RESULTS: Recruitment records were available from 2014 onwards, yielding 1013 eligible patients for prehabilitation participation with MDIS data. Fewer patients with a low SES enrolled (Q1:62% vs. Q5:47%; P = 0.01) and remained in prehabilitation studies (Q1: 59% vs. Q5: 45%; P = 0.07). Prehabilitation study records were available from 2008 onward, yielding 886 enrolled patients with MDIS data (n = 510 prehabilitation, n = 376 control). Preoperative 6MWT similarly improved by > 20 m in response to prehabilitation across SES strata (P < 0.05). Postoperative 6MWT could not be evaluated due to substantial missing data. Prehabilitation had a significant protective influence on LOS, as compared to control, in unadjusted and adjusted models [adjusted IRR:0.77 (95% CI:0.68 to 0.87; P < 0.001]. CONCLUSION: Findings suggest that prehabilitation is effective across all SES; however, participation across SES quintiles was not equal. Barriers to participation must be identified and addressed. Once these barriers are addressed, prehabilitation may reduce surgical disparities among SES.

Impact of the Novel CoronaviruS (COVID-19) on Frontline PharmacIsts Roles and ServicEs: INSPIRE Worldwide Survey.

BACKGROUND: Pharmacy has been recognized as a vital healthcare profession during the COVID-19 pandemic. The primary objective of the INSPIRE Worldwide survey was to determine the impact of COVID-19 on pharmacy practice and pharmacists' roles around the world. METHODS: A cross-sectional online questionnaire with pharmacists who provided direct patient care during the pandemic. Participants were recruited through social media, with assistance from national and international pharmacy organizations between March 2021-May 2022. The questionnaire was divided into (1) demographics, (2) pharmacists' roles, (3) communication strategies, and (4) practice challenges. The data were analyzed using SPSS 28, and descriptive statistics were used to report frequencies and percentages. RESULTS: A total of 505 pharmacists practicing in 25 countries participated. The most common role that pharmacists undertook was responding to drug information requests (90%), followed by allaying patients' fears and anxieties about COVID-19 (82.6%), and addressing misinformation about COVID-19 treatments and vaccinations (80.4%). The most common challenges were increased stress levels (84.7%), followed by medication shortages (73.8%), general supply shortages (71.8%), and inadequate staffing (69.2%). CONCLUSIONS: Pharmacists within this study were significantly impacted by the COVID-19 pandemic and took on new or adapted roles (e.g., providing COVID-specific information, managing patients' emotions, and educating on public health measures) to meet the needs of their communities. Despite, the significant challenges (e.g., increased stress, supply chain challenges, addressing misinformation, and staffing shortages) faced by pharmacists, they continued to put their patients' needs first and to provide pharmacy services.

Providing quality improvement training in an advanced pharmacy practice experience elective.

BACKGROUND AND PURPOSE: Quality Improvement (QI) science is a burgeoning component of healthcare systems and the practice of pharmacy. There is limited published literature on the implementation of QI training in undergraduate pharmacy education. We describe the development and implementation of QI training in an experiential course. EDUCATIONAL ACTIVITY AND SETTING: A QI curriculum was developed for an existing eight-week pharmacy practice elective experience for year four pharmacy students. The curriculum was divided into two, four-week blocks, combining didactic instruction and applied learning activities. A partnership between university departments and a local health organization provided a QI preceptor along with an interdisciplinary clinical team in an acute care setting to improve clinical services. FINDINGS: Six students have completed the elective along with completing three QI projects. The Kirkpatrick 4 level model guided course evaluation. A curriculum strength was no additional cost or educational burden on the faculty of pharmacy and pharmaceutical sciences. Students recognized benefit from (1) course flexibility and independence to learn, (2) clear expectations and weekly guidance from the preceptor, (3) alignment of weekly readings and real-time application of QI concepts, and (4) the Institute for Healthcare Improvement education modules. Reducing the number of assigned tasks per week and improving availability of the clinical QI team to support student learning were identified as areas for improvement. SUMMARY: This elective course demonstrated a starting point from which QI education can be formally included in pharmacy undergraduate education.

Mast cell infiltration associated with loss of interstitial cells of Cajal and neuronal degeneration in achalasia.

BACKGROUND: Achalasia is a motility disorder of unknown etiology. Previous studies supported the hypothesis that autoimmune-mediated inflammatory responses produce inhibitory neuronal degeneration. This study was designed to explore the role of mast cells in achalasia. METHODS: We collected information from 116 patients with achalasia who underwent peroral endoscopic myotomy between December 2016 and May 2017. Lower esophageal sphincter (LES) muscle biopsy was performed in all patients with achalasia, as well as 20 control subjects. The number of mast cells, interstitial cells of Cajal (ICCs), nNOS-positive cells, and S-100-positive cells in the LES were evaluated by immunohistochemistry. Pathological and clinical data were compared between groups. KEY RESULTS: Compared with controls, the LES of patients with achalasia had significantly fewer ICCs, nNOS-positive cells, and S-100-positive cells and a higher number of mast cells (all P < 0.001). Furthermore, the increased mast cell infiltration was significantly associated with decreased ICCs, nNOS-positive cells, and S-100-positive cells in patients with achalasia (all P < 0.05). Clinically, the number of strongly positive mast cells was highest in patients with type I achalasia and lowest in those with type III achalasia (P < 0.001). In addition, patients with a history of autoimmune disease or viral infection had greater mast cell infiltration in the LES muscle (P = 0.040). CONCLUSIONS & INFERENCES: In patients with achalasia, mast cell infiltration in the LES muscle is increased, in association with loss of ICCs and neuronal degeneration. Mast cells may thereby play a crucial role in the development of achalasia.

Multi-platform discovery of haplotype-resolved structural variation in human genomes.

The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (<50 bp) and 27,622 SVs (≥50 bp) per genome. We also discover 156 inversions per genome and 58 of the inversions intersect with the critical regions of recurrent microdeletion and microduplication syndromes. Taken together, our SV callsets represent a three to sevenfold increase in SV detection compared to most standard high-throughput sequencing studies, including those from the 1000 Genomes Project. The methods and the dataset presented serve as a gold standard for the scientific community allowing us to make recommendations for maximizing structural variation sensitivity for future genome sequencing studies.

Antioxidant and anti-inflammatory properties of chicken egg vitelline membrane hydrolysates.

Vitelline membrane (VM) is a multilayered structure that surrounds the egg yolk serving to separate the yolk and the white. Due to its poor solubility in aqueous-based media, VM proteins and their biological properties have not been fully defined. In the current study, VM was hydrolyzed using different enzymes under the optimum hydrolysis conditions. Antioxidant and anti-inflammatory properties were evaluated in chemical and cellular models. Flavourzyme- and trypsin-treated samples showed the highest radical scavenging and ferric ion reducing effect (31% and 20 µM of Trolox equivalents/mg, respectively). In cellular studies, all VM hydrolysates were cyto-compatible and inhibited nitric oxide production by RAW264.7 macrophage cells significantly. Lipopolysaccharide-stimulated up-regulation of pro-inflammatory cytokines in RAW264.7 cells was suppressed by flavourzyme-treated VM. These results revealed that enzymatic hydrolysis of VM is a promising approach to produce peptides with several bioactivities (free radical scavenging, metal chelation, and anti-inflammatory) as valuable ingredients for cosmeceuticals and nutraceuticals.

Development of a novel tool for engaging children and parents in asthma self-management.

This paper describes the development and evaluation of an innovative application designed to engage children and their parents in weekly asthma self-monitoring and self-management to prompt an early response to deteriorations in chronic asthma control, and to provide their physicians with longitudinal data to assess the effectiveness of asthma therapy and prompt adjustments. The evaluation included 2 iterative usability testing cycles with 6 children with asthma and 2 parents of children with asthma to assess user performance and satisfaction with the application. Several usability problems were identified and changes were made to ensure acceptability of the application and relevance of the content. This novel application is unique compared to existing asthma tools and may shift asthma care from the current reactive, acute care model to a preventive, proactive patient-centered approach where treatment decisions are tailored to patients' individual patterns of chronic asthma control to prevent acute exacerbations.