Introducing the Journal of the Medical Library Association's policy on the use of generative artificial intelligence in submissions.

With the arrival of ChatGPT, the academic community has expressed concerns about how generative artificial intelligence will be used by students and researchers alike. After consulting policies from other journals and discussing among the editorial team, we have created a policy on the use of AI on submissions to JMLA. This editorial provides a brief background on these concerns and introduces our policy.

Domains of professional practice: analysis of publications in the Journal of the Medical Library Association from 2010 to 2019.

The Medical Library Association (MLA) has defined 7 domain hubs aligning to different areas of information professional practice. To assess the extent to which content in the Journal of the Medical Library Association (JMLA) is reflective of these domains, we analyzed the magnitude of JMLA articles aligning to each domain hub over the last 10 years. Bibliographic records for 453 articles published in JMLA from 2010 to 2019 were downloaded from Web of Science and screened using Covidence software. Thirteen articles were excluded during the title and abstract review because they failed to meet the inclusion criteria, resulting in 440 articles included in this review. The title and abstract of each article were screened by two reviewers, each of whom assigned the article up to two tags corresponding to MLA domain hubs (i.e., information services, information management, education, professionalism and leadership, innovation and research practice, clinical support, and health equity & global health). These results inform the MLA community about our strengths in health information professional practice as reflected by articles published in JMLA.

Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

The age of menopause is associated with fertility and disease risk, and its genetic control is of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank to test for associations between rare damaging variants and age at natural menopause. Rare damaging variants in five genes are significantly associated with menopause: CHEK2 (p = 3.3 × 10-51), DCLRE1A (p = 8.4 × 10-13), and HELB (p = 5.7 × 10-7) with later menopause and TOP3A (p = 7.6 × 10-8) and CLPB (p = 8.1 × 10-7) with earlier menopause. Two additional genes are suggestive: RAD54L (p = 2.4 × 10-6) with later menopause and HROB (p = 2.9 × 10-6) with earlier menopause. In a follow-up analysis of repeated questionnaires in women who were initially premenopausal, CHEK2, TOP3A, and RAD54L genotypes are associated with subsequent menopause. Consistent with previous genome-wide association studies (GWASs), six of the seven genes are involved in the DNA damage repair pathway. Phenome-wide scans across 398,569 men and women revealed that in addition to known associations with cancers and blood cell counts, rare variants in CHEK2 are also associated with increased risk for uterine fibroids, polycystic ovary syndrome, and prostate hypertrophy; these associations are not shared with higher-penetrance breast cancer genes. Causal mediation analysis suggests that approximately 8% of the breast cancer risk conferred by CHEK2 pathogenic variants after menopause is mediated through delayed menopause.

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1, which are known to be involved in Mendelian forms of diabetes. Notably, we uncovered novel associations for GIGYF1, a gene not previously implicated by human genetics in diabetes. GIGYF1 predicted loss of function (pLOF) variants associated with increased levels of glucose (0.77 mmol/L increase, p = 4.42 × 10-12) and HbA1c (4.33 mmol/mol, p = 1.28 × 10-14) as well as T2D diagnosis (OR = 4.15, p = 6.14 × 10-11). Multiple rare variants contributed to these associations, including singleton variants. GIGYF1 pLOF also associated with decreased cholesterol levels as well as an increased risk of hypothyroidism. The association of GIGYF1 pLOF with T2D diagnosis replicated in an independent cohort from the Geisinger Health System. In addition, a common variant association for glucose and T2D was identified at the GIGYF1 locus. Our results highlight the role of GIGYF1 in regulating insulin signaling and protecting from diabetes.

Striving for equity: An update from the Journal of the Medical Library Association.

In 2020, the Journal of the Medical Library Association (JMLA) launched an initiative aimed at providing more equitable opportunities for authors, reviewers, and editorial team members. This editorial provides an update on the steps we have taken thus far to empower authors, increase the diversity of our editorial team, and make equity-minded recommendations to the Medical Library Association.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates with the largest elevation of both enzymes, and this association replicates in the DiscovEHR study. SLC30A10 excretes manganese from the liver to the bile duct, and rare homozygous loss of function causes the syndrome hypermanganesemia with dystonia-1 (HMNDYT1) which involves cirrhosis. Consistent with hematological symptoms of hypermanganesemia, SLC30A10 Thr95Ile carriers have increased hematocrit and risk of iron deficiency anemia. Carriers also have increased risk of extrahepatic bile duct cancer. These results suggest that genetic variation in SLC30A10 adversely affects more individuals than patients with diagnosed HMNDYT1.

Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.

Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3-4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we conducted a phenome-wide association study scanning 427 ICD diagnosis codes in UK Biobank participants of African ancestry (n = 6062). Significant associations were tested for replication in the Penn Medicine Biobank (n = 5737) and the Million Veteran Program (n = 82,382). V122I was significantly associated with polyneuropathy in the UK Biobank (odds ratio [OR] = 6.4, 95% confidence interval [CI] 2.6-15.6, p = 4.2 × 10-5), which was replicated in the Penn Medicine Biobank (OR = 1.6, 95% CI 1.2-2.4, p = 6.0 × 10-3) and Million Veteran Program (OR = 1.5, 95% CI 1.2-1.8, p = 1.8 × 10-4). Polyneuropathy prevalence among V122I carriers was 2.1%, 9.0%, and 4.8% in the UK Biobank, Penn Medicine Biobank, and Million Veteran Program, respectively. The cumulative incidence of common hATTR amyloidosis manifestations (carpal tunnel syndrome, polyneuropathy, cardiomyopathy, heart failure) was significantly enriched in V122I carriers compared with non-carriers (HR = 2.8, 95% CI 1.7-4.5, p = 2.6 × 10-5) in the UK Biobank, with 37.4% of V122I carriers having at least one of these manifestations by age 75. Our findings show that V122I carriers are at increased risk of polyneuropathy. These results also emphasize the underdiagnosis of disease in V122I carriers with a significant proportion of subjects showing phenotypic changes consistent with hATTR amyloidosis. Greater understanding of the manifestations associated with V122I is critical for earlier diagnosis and treatment.

Biomedical Engineering Professional Skills Development: The RADxSM Tech Impact on Graduates and Faculty.

There are many benefits of the RADxSM Tech initiative worth exploring beyond that of the current acceleration of diagnostic tests being developed and deployed to the nation. One of those benefits has been the impact on work readiness for recent biomedical engineering (BME) graduates who have been hired by RADx Tech as Assistant Project Facilitators (APFs) and to the students and faculty members on applicant teams. This paper includes a literature review of the current status of BME professional skills development in traditional academic and clinical settings. The organizational structure of RADx Tech teams is described, including how recent BME graduates are integral to the process. Opportunities are discussed on how the RADx Tech structural model can be leveraged to improve professional skills education. It is concluded that the RADx Tech organizational structure and process including APFs may be replicable. Further research is planned to explore its impact.

Repeatable social network node-based metrics across populations and contexts in a passerine.

Behavioural traits are considered animal personality traits when individuals differ consistently in their expression across time and across context. Here, we test this idea on three metrics derived from social interaction networks (strength, betweenness and closeness). Using experimental data from house sparrows in captive populations, and observational data from house sparrows in a wild population, we show that all three metrics consistently exhibit repeatability across both study populations and two methods of recording interactions. The highest repeatability values were estimated in male-only captive groups, whereas repeatabilities estimated in single-sex networks subsetted from mixed-sex groups showed no sex specificity. We also show that changes in social group composition led to a decrease in repeatability for up to six months. This work provides substantial and generalizable support for the notion that social network node-based metrics can be considered animal personalities. Our work suggests that social network traits may be heritable and thus could be selected for.

Building visualization skills through investigating the Journal of the Medical Library Association coauthorship network from 2006-2017.

OBJECTIVE: The primary objective of this study was to explore different dimensions of Journal of the Medical Library Association (JMLA) authorship from 2006-2017. Dimensions that were evaluated using coauthorship networks and affiliation data included collaboration, geographical reach, and relationship between Medical Library Association (MLA) member and nonmember authors. A secondary objective was to analyze the practice and practical application of data science skills. METHODS: A team of librarians who attended the 2017 Data Science and Visualization Institute used JMLA bibliographic metadata extracted from Scopus, together with select MLA membership data from 2006-2017. Data cleaning, anonymization, analysis, and visualization were done collaboratively by the team members to meet their learning objectives and to produce insights about the nature of collaborative authorship at JMLA. RESULTS: Sixty-nine percent of the 1,351 JMLA authors from 2006-2017 were not MLA members. MLA members were more productive and collaborative, and tended to author articles together. The majority of the authoring institutions in JMLA are based in the United States. Global reach outside of the United States and Canada shows higher authorship in English-speaking countries (e.g., Australia, United Kingdom), as well as in Western Europe and Japan. CONCLUSIONS: MLA support of JMLA may benefit a wider network of health information specialists and medical professionals than is reflected in MLA membership. Conducting coauthorship network analyses can create opportunities for health sciences librarians to practice applying emerging data science and data visualization skills.

Thinking and Reading like a Scientist: Librarians as Facilitators of Primary Literature Literacy.

Students entering graduate degree programs in science, technology, engineering, and math (STEM) fields or professional degree programs in the health sciences are expected to have adequate academic preparation in science process skills like the ability to read primary literature effectively. This column scrutinizes this assumption by examining how science is taught to undergraduates, finding that undergraduate STEM curricula rarely prepare students with the mastery of science process skills needed to succeed in graduate school. The column discusses some possible causes of this skill gap and suggests that academic and medical librarians are well-equipped to help students develop primary literature literacy skills. The column closes with a list of practical active reading strategies that librarians can share and model for students.

Using information literacy to teach medical entrepreneurship and health care economics.

OBJECTIVE: Entrepreneurship and innovative product design in health care requires expertise in finding and evaluating diverse types of information from a multitude of sources to accomplish a number of tasks, such as securing regulatory approval, developing a reimbursement strategy, and navigating intellectual property. The authors sought to determine whether an intensive, specialized information literacy training program that introduced undergraduate biomedical engineering students to these concepts would improve the quality of the students' design projects. We also sought to test whether information literacy training that included active learning exercises would offer increased benefits over training delivered via lectures and if this specialized information literacy training would increase the extent of students' information use. METHODS: A three-arm cohort study was conducted with a control group and two experimental groups. Mixed methods assessment, including a rubric and citation analysis, was used to evaluate program outcomes by examining authentic artifacts of student learning. RESULTS: Student design teams that received information literacy training on topics related to medical entrepreneurship and health care economics showed significantly improved performance on aspects of project performance relevant to health care economics over student design teams that did not receive this training. There were no significant differences between teams that engaged in active learning exercises and those that only received training via lectures. Also, there were no significant differences in citation patterns between student teams that did or did not receive specialized information literacy training. CONCLUSIONS: Information literacy training can be used as a method for introducing undergraduate health sciences students to the health care economics aspects of the medical entrepreneurship life cycle, including the US Food and Drug Administration regulatory environment, intellectual property, and medical billing and reimbursement structures.

Flipping one-shot library instruction: using Canvas and Pecha Kucha for peer teaching.

OBJECTIVE: This study sought to determine whether a flipped classroom that facilitated peer learning would improve undergraduate health sciences students' abilities to find, evaluate, and use appropriate evidence for research assignments. METHODS: Students completed online modules in a learning management system, with librarians facilitating subsequent student-directed, in-person sessions. Mixed methods assessment was used to evaluate program outcomes. RESULTS: Students learned information literacy concepts but did not consistently apply them in research assignments. Faculty interviews revealed strengthened partnerships between librarians and teaching faculty. CONCLUSION: This pedagogy shows promise for implementing and evaluating a successful flipped information literacy program.

A small volume technique to examine and compare alveolar macrophage phagocytosis of apoptotic cells and non typeable Haemophilus influenzae (NTHi).

UNLABELLED: A defective ability of alveolar macrophages to phagocytose both apoptotic airway epithelial cells and bacteria in chronic lung diseases potentially associated with inflammation and bacterial colonisation of the lower airways, often with non-typeable Haemophilus influenzae (NTHi), has been shown. We routinely assess phagocytosis in the airway of children: however, the small volume of BAL obtained usually precludes the investigation of phagocytosis of both (potentially equally relevant) apoptotic cells and NTHi. METHODS: We established a 'one-tube, dual target' flow-cytometric assay for investigating alveolar macrophage phagocytosis of both apoptotic cells and NTHi. The effect of bacterial presence on phagocytosis of apoptotic cells was assessed by comparing results using this technique to standard 'two tube, single target' methods. The comparative ability of alveolar macrophages to phagocytose NTHi or apoptotic cells was assessed in 10/group of healthy adult controls and patients with COPD, 12 children with bronchiectasis, and 10 children controls. We then assessed the influence of increasing concentrations of NTHi targets on the ability of THP-1 macrophages to simultaneously phagocytose apoptotic cells. RESULTS: Alveolar macrophages phagocytosed NTHi more avidly than apoptotic cells (mean ± SEM: apoptotic cells 15.4% ± 0.5 vs. NTHi 17.2% ± 0.7, p<0.05). The presence of NTHi targets (ratio of 1:100 macrophage: NTHi; 2 × 1 0(7) CFU routinely applied in our assay) had no effect on the ability of macrophages to simultaneously phagocytose apoptotic cells. However, when bacterial numbers were increased (up to 4-fold) there was a small but significant suppressive effect on the ability of macrophages to phagocytose apoptotic cells. CONCLUSIONS: We describe a small volume 'one tube, dual target' technique to measure phagocytosis of apoptotic cells and NTHi. We show that alveolar macrophages phagocytose NTHi more avidly than apoptotic cells, and that an increased presence of NTHi in the airway may reduce the ability of alveolar macrophages to phagocytose apoptotic cells.

Correlation Between Students' Dental Admission Test Scores and Performance on a Dental School's Competency Exam.

The aim of this study was to investigate whether there was a statistically significant positive correlation between dental students' Dental Admission Test (DAT) scores, particularly on the Perceptual Ability Test (PAT), and their performance on a dental school's competency exam. Scores from the written and clinical competency exam administered in the fall quarter of the fourth year of the curriculum at Midwestern University College of Dental Medicine-Arizona were compared to DAT scores of all 216 members of the graduating classes of 2012 and 2013. It was hypothesized that students who performed highly on one or more sections of the DAT would perform highly on the competency exam. Backward stepwise regression analyses were used to analyze the data. The results showed that the PAT scores were most strongly correlated with the competency exam scores and were a positive predictor for all three clinical sections of the exam (operative dentistry, periodontics, and endodontics). Positive predictors for the written portion of the exam were total DAT score for patient assessment and treatment planning and the DAT reading comprehension score for prosthodontics; there were no predictors for periodontics. The total variance explained by the results ranged from 4% to 15%. While statistically significant relationships were found between the students' PAT scores and clinical performance, DAT scores explained relatively little variance in the competency exam scores. According to these findings, neither the PAT nor any of the DAT components contributed to predicting these students' clinical performance.

Sphingosine kinase 2-deficiency mediated changes in spinal pain processing.

Chronic pain is one of the most burdensome health issues facing the planet (as costly as diabetes and cancer combined), and in desperate need for new diagnostic targets leading to better therapies. The bioactive lipid sphingosine 1-phosphate (S1P) and its receptors have recently been shown to modulate nociceptive signaling at the level of peripheral nociceptors and central neurons. However, the exact role of S1P generating enzymes, in particular sphingosine kinase 2 (Sphk2), in nociception remains unknown. We found that both sphingosine kinases, Sphk1 and Sphk2, were expressed in spinal cord (SC) with higher levels of Sphk2 mRNA compared to Sphk1. All three Sphk2 mRNA-isoforms were present with the Sphk2.1 mRNA showing the highest relative expression. Mice deficient in Sphk2 (Sphk2(-/-)) showed in contrast to mice deficient in Sphk1 (Sphk1(-/-)) substantially lower spinal S1P levels compared to wild-type C57BL/6 mice. In the formalin model of acute peripheral inflammatory pain, Sphk2(-/-) mice showed facilitation of nociceptive transmission during the late response, whereas responses to early acute pain, and the number of c-Fos immunoreactive dorsal horn neurons were not different between Sphk2(-/-) and wild-type mice. Chronic peripheral inflammation (CPI) caused a bilateral increase in mechanical sensitivity in Sphk2(-/-) mice. Additionally, CPI increased the relative mRNA expression of P2X4 receptor, brain-derived neurotrophic factor and inducible nitric oxide synthase in the ipsilateral SC of wild-type but not Sphk2(-/-) mice. Similarly, Sphk2(-/-) mice showed in contrast to wild-type no CPI-dependent increase in areas of the dorsal horn immunoreactive for the microglia marker Iba-1 and the astrocyte marker Glial fibrillary acidic protein (GFAP). Our results suggest that the tightly regulated cell signaling enzyme Sphk2 may be a key component for facilitation of nociceptive circuits in the CNS leading to central sensitization and pain memory formation.