Replication Study Research Articles

Intersectionality matters for hispanic health: A replication study using the All of Us Research Program

BackgroundDespite research dedicated to understanding the health profiles and health-related outcomes of Hispanic individuals, the prevailing body of literature frequently homogenizes the Hispanic population, failing to address the role of race in Hispanic health discourse. Thus, the current study applies an intersectional lens to identify health differences and similarities among Hispanic subgroups.MethodsSociodemographic characteristics and health domain variables (i.e., health status, health services, and health behaviors) from participants (N = 11,192) were included in the analyses. Bivariate Chi-squared tests examined the relationship between sociodemographic and health domain variables Black Hispanic individuals, white Hispanic individuals, and non-Hispanic Black individuals.ResultsFindings suggest that Non-Hispanic Black American individuals reported the highest rates of hypertension (49.09%) and diabetes (19.62%) compared to Black-Hispanic individuals (22.45% and 12.98%) and white Hispanic individuals (22.22% and 8.02%). Black Hispanic individuals reported the greatest proportion of asthma diagnoses (35.10%) and those who saw a doctor in the previous year (95.52%) compared to white Hispanic individuals (26.84%, and 91.10%, respectively) and non-Hispanic Black individuals ( 21.74%, and 94.69%, respectively).ConclusionSpecifically, we found that several health behaviors and health-related outcomes significantly varied across different racial/ethnic groups, demonstrating the advantage of an intersectional approach to identify health disparities among racially diverse ethnic groups.Public Health significanceWe encourage the development of health care services with an awareness of the complexities resulting from racial differences within the Hispanic diaspora.

Interpersonal Perception of Adult Playfulness at Zero-Acquaintance: A Conceptual Replication Study of Self-Other Agreement and Consensus, and an Extension to Two Accuracy Criteria.

We replicated and extended previous research examining the accuracy of judgments of four facets of adult playfulness (Other-directed, Lighthearted, Intellectual, and Whimsical; OLIW) at zero-acquaintance. We conducted a conceptual replication study. One hundred sixty targets provided self-ratings for the OLIW facets, textual self-descriptions (≤ five sentences), daily self-ratings of playfulness for 14 consecutive days, and ratings by knowledgeable others. Six unacquainted judges provided rated targets' playfulness based on their self-descriptions. We replicated findings on trait-wise self-other agreement (SOA) and consensus and extended prior research by testing SOA for profiles of the four facets and two distinct accuracy criteria (i.e., targets' diary data and aggregates of targets' self-reports and those from knowledgeable others). All interpersonal perception indicators showed that facets of playfulness can be perceived above chance (SOA ≥ 0.26; consensus ≥ 0.29, accuracies ≥ 0.16). SOA extends from single facets to profiles, also when controlling for stereotype effects. Playfulness can be accurately observed from minimal textual information at zero acquaintance. Our study highlights the robustness of findings on the interpersonal perception of playfulness across samples and methods, and degrees of acquaintanceship. We discuss implications for playfulness in social relationships.

Lack of optimistic bias during social evaluation learning reflects reduced positive self-beliefs in depression and social anxiety, but via distinct mechanisms

Processing social feedback optimistically may maintain positive self-beliefs and stable social relationships. Conversely, a lack of this optimistic bias in depression and social anxiety may perpetuate negative self-beliefs and maintain symptoms. Research investigating this mechanism is scarce, however, and the mechanisms by which depressed and socially anxious individuals respond to social evaluation may also differ. Using a range of computational approaches in two large datasets (mega-analysis of previous studies, n = 450; pre-registered replication study, n = 807), we investigated how depression (PHQ-9) and social anxiety (BFNE) symptoms related to social evaluation learning in a computerized task. Optimistic bias (better learning of positive relative to negative evaluations) was found to be negatively associated with depression and social anxiety. Structural equation models suggested this reflected a heightened sensitivity to negative social feedback in social anxiety, whereas in depression it co-existed with a blunted response to positive social feedback. Computational belief-based learning models further suggested that reduced optimism was driven by less positive trait-like self-beliefs in both depression and social anxiety, with some evidence for a general blunting in belief updating in depression. Recognizing such transdiagnostic similarities and differences in social evaluation learning across disorders may inform approaches to personalizing treatment.

Spatial ability predicts short-term retention of declarative technical information in authentic engineering educational settings: an original study with two conceptual replications

ABSTRACT An association between spatial ability, particularly visualisation, and science, technology, engineering, and mathematics (STEM) education has been repeatedly demonstrated over the past four decades. Understanding this relationship is of critical importance as substantial evidence illustrates the malleability of spatial ability and that the effects of associated training interventions transfer to desirable STEM outcomes such as improved educational performance and reduced attrition rates. There currently exists a number of theories as to why spatial ability relates to STEM, such as that the nature of STEM activity is inherently spatial. However, there is a need to better understand this relationship from a cognitive perspective. This research examined the hypothesis that spatial ability is predictive of short-term retention for declarative technical information associated with engineering curricula. An original investigation in an authentic educational setting found that visualisation and interest in the lecture material were significant predictors of short-term knowledge retention. This effect was then replicated in two subsequent conceptual replication studies. Based on this predictive finding, it is theorised that increases in spatial ability may support the elongation of the knowledge forgetting curve which would have significant implications for instructional design.

Concordance between venous sinus pressure and intracranial pressure in patients investigated for idiopathic intracranial hypertension

BackgroundIdiopathic intracranial hypertension (IIH) is a cause of chronic headaches that are probably driven by raised intracranial pressure (ICP). Cerebral venous sinus pressure is thought to play a role in the underlying pathology, but its relation with intracranial pressure requires further investigation. We aimed to evaluate the concordance between lumbar puncture opening pressure (LPOP) as indicator of the ICP and cerebral venous sinus pressure in patients investigated for IIH.MethodsIn this case-series replication study, all patients with IIH suspicion and who underwent cerebral venous sinus pressure measurement followed immediately by LP opening pressure (LPOP) measurement were retrospectively included. Pearson’s correlation and measurement agreement (Bland-Altman plots) between venous pressure and LPOP were analyzed.Results52 consecutive patients (46 women; median age, 31 years [IQR = 25–42]) were included. The mean pressure in the superior sagittal sinus (SSS) and in the torcular were 20.9mmHg (SD ± 7.3) and 20.8 mmHg (SD ± 6.8), respectively. The mean LPOP was 22mmHg (SD ± 6.4). Pressure measured in the transverse venous sinus, the torcular, and the SSS correlated with LPOP (p < 0.001). Bland-Altman plots showed that torcular pressure strongly agreed with LPOP (mean difference of 1.7mmHg). The limit of agreement (LOA) (mean difference ± 1.96SD) contained 98.1% of the differences between the two methods, confirming the concordance between the two measures. Torcular pressure and LPOP were consistent in patients with a trans-stenotic pressure gradient ≥ or < to 8 mmHg (mean difference: 1mmHg and 2.4mmHg, respectively), and for those with a LP OP ≥ or < to 18mmHg (mean difference: 1.8mmHg and 1.95mmHg, respectively).ConclusionsIn patients investigated for IIH, the ICP measured at the LP is correlated and concordant with the torcular pressure. These results confirm previous findings and further corroborate the hypothesis that cerebral venous system plays a major role in CSF dynamics and ICP.

Domain-specific research methods in instructed second language acquisition: A next step for research integrity and impact

Abstract Instructed second language acquisition (ISLA) is one of the fastest growing areas of applied linguistics. With this tremendous potential comes great responsibility for robust, ethical, and transparent research methods that are responsive to and tailored for the ISLA domain. This article highlights unique characteristics of ISLA research, provides a current landscape of methodological trends within ISLA, and makes specific recommendations for research methods in future ISLA studies. I begin by briefly operationalizing ISLA and articulating some of the main research questions and overarching goals within ISLA, as well as the nature and ultimate aims of ISLA research. Next, the most unique methodological challenges for ISLA research are reviewed, including the use of intact classes and heterogeneous small participant pools, cross-sectional studies, using one’s own students for research, and individual differences. This is followed by a discussion of several current trends in ISLA research methods, including examining the process of learning/development, conducting practice-based research, expanding our conceptualization of instructional contexts, replication studies, especially with bi/multilingual learners in diverse contexts, refining our methods with an eye for ethics and justice, equity, diversity, and inclusion, and conducting open, transparent research that has potential for real-world impact and which dialogues with multiple stakeholders at all stages. I conclude by highlighting that, as ISLA continues as an independent research domain, the development and implementation of strong research methods tailored for ISLA is critical for research integrity and to make the greatest strides in understanding language acquisition processes and effective pedagogical interventions in diverse instructional contexts.

A GWAS of ACE Inhibitor-Induced Angioedema in a South African Population.

Angiotensin-converting enzyme inhibitor-induced angioedema (AE-ACEI) is a life-threatening adverse event and, globally, the commonest cause of emergency presentations with angioedema. Several large genome-wide association studies (GWAS) have found genomic associations with AE-ACEI. However, despite African Americans having a 5-fold increased risk of AE-ACEI, there are no published GWAS from Africa. The aim of this study was to conduct a case-control GWAS of AE-ACEI in a South African population and perform a meta-analysis with an African American and European American population. The GWAS included 202 South African adults with a history of AE-ACEI and 513 controls without angioedema following angiotensin-converting enzyme inhibitor (ACEI) treatment for at least 2 years. A meta-analysis was conducted with GWAS summary statistics from an African American and European American cohort (from Vanderbilt/Marshfield with 174 cases and 489 controls). No SNPs attained genome-wide significance. However, 26 SNPs in the post-imputation standard GWAS of the South African cohort and 37 SNPs in the meta-analysis were associated to AE-ACEI with suggestive threshold(p-value<5.0×10-06). Some of these SNPs were found to be located close to the genes PRKCQ and RIMS1, previously linked with drug-induced angioedema, and also close to the CSMD1 gene linked to ACEI cough, providing replication at the gene level, but with novel lead SNPs. Our results highlight the importance of African populations to detect novel variants in replication studies. Further increased sampling across the continent and matched functional work are needed to confirm the importance of genetic variation in understanding the biology of AE-ACEI.

Examining posttraumatic cognitions as a pathway linking trauma exposure and eating disorder symptoms in veteran men and women: A replication and extension study

ABSTRACT Trauma is a risk factor for eating disorders (EDs). Enhanced understanding of the pathways from trauma to EDs could identify important treatment targets. Guided by theory, the present study sought to replicate previous findings identifying posttraumatic stress disorder (PTSD) symptoms and shape/weight overvaluation as important pathways between trauma and ED symptoms and extend this work by investigating the role of posttraumatic cognitions in these associations. The sample included 825 female and 565 male post-9/11 veterans who completed cross-sectional survey measures of trauma, posttraumatic cognitions, PTSD symptoms, shape/weight overvaluation, and ED symptoms. Gender-stratified structural equation models were used to examine direct and indirect pathways from trauma exposure to EDs via PTSD symptoms and shape/weight overvaluation (replication) and posttraumatic cognitions (extension). Results suggested that trauma exposure was indirectly associated with ED symptoms via shape/weight overvaluation and posttraumatic cognitions. There was no indirect association between trauma exposure and ED symptoms via PTSD symptoms. Overall, findings from this study highlight the potential role of posttraumatic cognitions in understanding the association between trauma and ED symptoms. However, future longitudinal research is needed to verify the directionality of these associations and investigate cognitions as a potentially targetable risk mechanism in co-occurring trauma and EDs.

Dementia mindset of caregivers providing residential care for older persons: study protocol for a replication study on the validation of the Dementia Mindset Scale

IntroductionProfessional caregivers’ perspectives on dementia and on people living with dementia (PlwD) can influence their feelings, judgements and behaviours in work situations, for example, how they think about symptoms, disease...

Proposed Physiological Mechanisms Underlying the Association between Adverse Childhood Experiences and Mental Health Conditions: A Narrative Review.

Adverse childhood experiences (ACEs; e.g., physical abuse) can impact lifelong mental health both directly and intergenerationally, with effects transmitted from the parent to the child. Several physiological mechanisms have been proposed to explain the impacts of ACEs on mental health. The purpose of this narrative review was to synthesize and critique the peer-reviewed literature on physiological mechanisms proposed to underlie the impacts of ACEs on mental health, specifically: (1) hypothalamic-pituitary-adrenal axis functioning, (2) inflammation, (3) genetic inheritance and differential susceptibility, (4) epigenetics, (5) brain structure and function, (6) oxidative stress, and (7) metabolic profiles. We searched Google Scholar using variations of the terms "adverse childhood experiences", "mechanisms", and "mental health" to locate relevant peer-reviewed literature. We also mined citations of the identified literature to find additional important sources. The role of inflammation in the etiology of mental health conditions among those exposed to ACEs appeared promising, followed by hypothalamic-pituitary-adrenal axis functioning, brain structure and function, genetics, epigenetics, metabolism, and lastly, oxidative stress. Replication studies that examine the associations among ACEs, genetic inheritance and differential susceptibility, epigenetics, oxidative stress, and metabolism are required to better define links with mental health.

Gender differences in adolescents' life satisfaction: A replication study in Kazakhstan.

Whether adolescents' life satisfaction varies with gender is unclear. In a recently published study, Brisson et al. found unadjusted mean scores of life satisfaction to be higher in boys than in girls in Luxembourg, a country ranking high in gender-equality indexes. However, gender was no longer predictive of life satisfaction when well-identified predictors of life satisfaction were included in the model. The present work aimed to replicate Brisson et al.'s study in Kazakhstan, a less gender-equal country than Luxembourg, and test the gender-equality-paradox hypothesis. We used cross-sectional data from the Health-Behavior in School-aged Children study conducted in 2022 to mirror Brisson et al.'s study design. We relied on a nationally representative sample of 7369 school attendees in Kazakhstan (MAGE = 13.4; SDAGE = 1.7; 52.3% female). We performed general linear modeling analyses to achieve our research goals. In keeping with Brisson et al.'s study, we found unadjusted mean scores of life satisfaction to be higher in boys than in girls. The magnitude of the gender gap was lower in Kazakhstan than in Luxembourg. In contrast to Brisson et al.'s study, controlling for well-identified predictors of life satisfaction did not annul the gap in question but changed its sign. This result suggests that, ceteris paribus, girls were more satisfied with their life than boys. Overall, our replication study supports the gender-equality-paradox hypothesis. Future studies may investigate whether this paradox stems from gendered criteria of life satisfaction assessment and/or sociobiological differences in health profiles.

Identification of genetic association between mitochondrial dysfunction and knee osteoarthritis through integrating multi-omics: a summary data-based Mendelian randomization study

ObjectiveAssociation between mitochondrial dysfunction and osteoarthritis (OA) has been consistently investigated, yet their genetic association remains obscure. In this study, mitochondrial-related genes were used as instrumental variables to proxy for mitochondrial dysfunction, and summary data of knee OA (KOA) were used as outcome to examine their genetic association.MethodsWe obtained 1136 mitochondrial-related genes from the human MitoCarta3.0 database. Genetic proxy instruments for mitochondrial-related genes from studies of corresponding gene expression (n = 31,684) and protein (n = 35,559) quantitative trait locus (eQTLs and pQTLs), respectively. Aggregated data for KOA (62,497 KOA cases and 333,557 controls) were extracted from the largest OA genome-wide association study (GWAS). We integrated QTL data with KOA GWAS data to estimate their genetic association using summary data-based Mendelian randomization analysis (SMR). Additionally, we implemented Bayesian colocalization analysis to reveal whether suggestive mitochondrial-related genes and KOA were driven by a same genetic variant. Finally, to validate the primary findings, replication study (24,955 cases and 378,169 controls) and multi-SNP-based SMR (SMR-multi) test was performed.ResultsThrough SMR analysis, we found that the expression levels of 2 mitochondrial-related genes were associated with KOA risk. Specifically, elevated gene expression levels of the IMMP2L (odds ratio [OR] = 1.056; 95% confidence interval [CI] = 1.030–1.082; P-FDR = 0.004) increased the risk of KOA. Conversely, increased gene expression levels of AKAP10 decreased the risk of KOA (OR = 0.955; 95% CI, 0.934–0.977; P-FDR = 0.019). Colocalization analysis demonstrated that AKAP10 (PP.H4 = 0.84) and IMMP2L (PP.H4 = 0.91) shared the same genetic variant with KOA. In addition, consistent results were found in replication study and SMR-multi test, further demonstrating the reliability of our findings.ConclusionsIn summary, our analyses revealed the genetic association between mitochondrial dysfunction proxied by mitochondrial-related genes and KOA, providing new insight into potential pathogenesis of KOA. Furthermore, these identified candidate genes offer the possibility of clinical drug target development for KOA.Key points• This is the first SMR study to explore the genetic association between mitochondrial dysfunction proxied by mitochondrial-related genes and KOA.• Sufficient evidence to support genetic association between the expression levels of AKAP10 and IMMP2L, and KOA• Our MR analysis may provide novel new insight into potential pathogenesis of KOA.• These identified candidate genes offer the possibility of clinical drug target development for KOA

Efficacy and safety of esketamine versus propofol in electroconvulsive therapy for treatment-resistant depression: A randomized, double-blind, controlled, non-inferiority trial

BackgroundElectroconvulsive therapy (ECT) is a commonly used alternative for treatment-resistant depression (TRD). Although esketamine has a rapid pharmacological antidepressant action, it has not been studied as an ECT anesthetic. The objective of this study was to compare the efficacy and safety of esketamine with propofol when both are used as ECT anesthetic agents. MethodsForty patients with TRD were assigned to one of two arms in a double-blind, randomized controlled trial: esketamine or propofol anesthesia for a series of eight ECT sessions. Using a non-inferiority design, the primary outcome was the reduction in HAMD-17 depressive symptoms. The other outcomes were: rates of response and remission, anxiety, suicidal ideation, cognitive function, and adverse events. These were compared in an intention-to-treat analysis. ResultsEsketamine-ECT was non-inferior to propofol-ECT for reducing TRD symptoms after 8 sessions (adjusted Δ = 2.0, 95 % CI: −1.2–5.1). Compared to propofol-ECT, esketamine-ECT also had higher depression response (80 % vs. 70 %; p = .06) and remission (65 % vs. 55 %; p = .11) rates but non-inferiority was not established. In four components of cognitive function (speed of processing, working memory, visual learning, and verbal learning) esketamine-ECT was non-inferior to propofol-ECT. The results for anxiety, suicidal ideation, and adverse events (all p's > .05) were inconclusive. ConclusionEsketamine was non-inferior to propofol when both are used as anesthetics for TRD patients undergoing ECT. Replication studies with larger samples are needed to examine the inconclusive results. Registration numberChiCTR2000033715.

Testing the dynamics between parent–child relationship and parent-belief intervention on children’s math motivation: A replication study with 3-month follow-up.

Testing the dynamics between parent–child relationship and parent-belief intervention on children’s math motivation: A replication study with 3-month follow-up.

Comparison of Cranial Cruciate Ligament Rupture Incidence among Parous and Nulliparous Rottweiler Bitches: Evidence from a Lifetime Cohort Study Supporting a Paradigm of Pregnancy-Associated Protection against Subsequent Non-Reproductive Disease Outcomes.

Emerging evidence in women supports the notion that pregnancy may reset disease resistance, thereby providing protection against subsequent adverse health outcomes, but this hypothesis has not been adequately explored in domestic dogs. Cranial cruciate ligament (CCL) rupture is a degenerative orthopedic disease that frequently affects pet dogs, and its risk has been associated with disruption of the reproductive hormone axis. Our research team is conducting a lifetime cohort study of purebred Rottweilers in North America that have lived 30% longer than breed-average. Detailed medical and reproductive histories of 33 nulliparous and 32 parous Rottweilers were generated from questionnaires and review of medical records. Interviews with owners of bitches in the nulliparous group served to limit selection bias, confirming that in no instance was the reason for nulliparity based upon the owner's suspicion that a bitch had a heightened risk for CCL rupture. The risk of CCL rupture associated with parity and other exposure variables was estimated using multivariate logistic regression. Overall, CCL rupture was diagnosed in 17 of 65 (26%) bitches. Median age at first litter and CCL rupture were 3.6 and 6.5 years, respectively. Compared to nulliparous, parous bitches had a significant 94% reduction in CCL rupture risk adjusted for duration of ovary exposure, overweight body condition, dietary pattern, habitual physical activity, and work/sport activity [ORadjusted (95% CI) = 0.06 (0.01-0.46); (p = 0.006)]. The observed parity-associated CCL rupture risk reduction remained robust in sensitivity analysis excluding six nulliparous bitches for which decision not to breed was based on diagnosis of hip or elbow dysplasia, conditions which may be genetically linked to CCL rupture [ORadjusted (95% CI) = 0.08 (0.01-0.58); (p = 0.01)]. This work sets the stage for replication studies in other canine populations that should begin to explore the mechanistic basis for parity-associated CCL rupture risk reduction and to pursue other non-reproductive health outcomes in bitches whose incidence or severity may be parity-sensitive.

Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across species.

Alcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure (PAE) resembling common patterns of alcohol consumption in pregnancy in humans. Early moderate PAE was sufficient to affect site-specific DNA methylation in newborn pups without altering behavioural outcomes in adult littermates. Whole-genome bisulfite sequencing of neonatal brain and liver revealed stochastic influence on DNA methylation that was mostly tissue-specific, with some perturbations likely originating as early as gastrulation. DNA methylation differences were enriched in non-coding genomic regions with regulatory potential indicative of broad effects of alcohol on genome regulation. Replication studies in human cohorts with fetal alcohol spectrum disorder suggested some effects were metastable at genes linked to disease-relevant traits including facial morphology, intelligence, educational attainment, autism, and schizophrenia. In our murine model, a maternal diet high in folate and choline protected against some of the damaging effects of early moderate PAE on DNA methylation. Our studies demonstrate that early moderate exposure is sufficient to affect fetal genome regulation even in the absence of overt phenotypic changes and highlight a role for preventative maternal dietary interventions.

Validating and extending the unified model of information security policy compliance

Purpose The purpose of this study is to further validate and extend the unified model of information security policy compliance (UMISPC) developed by Moody et al. (2018). Design/methodology/approach To be able to compare the results of this study and those reported by Moody et al. (2018) (and followers), the same quantitative data collection method (questionnaire) and variable measurement instruments were used. Specifically, questionnaire data were collected from a department within a Swedish governmental organization comprising 150 employees. Of these, 90 answered the questionnaire which rendered a response rate of 60%. Following Moody et al. (2018), the collected data were analyzed by means of structural equation modeling. Findings This study generally provides empirical support for the original UMISPC as a large majority of the findings are in line with those reported by Moody et al. (2018). However, it also suggests important differences and boundary conditions. Originality/value This study extends the original study of Moody et al. (2018) and subsequent replication studies by testing it in a new national/organizational context. Based on their call for future research, it also develops and empirically tests the effects of a new, socially visible information system security violation scenario. Related to this, this study also revisits the role of the variable subjective norms for better understanding employee non-/compliance to information security policies by suggesting that their effects may be indirect (i.e. running through other variables in the UMISPC) rather than direct.

Neuropsychiatric symptoms and lifelong mental activities in cerebral amyloid angiopathy – a cross-sectional study

BackgroundWhile several studies in cerebral amyloid angiopathy (CAA) focus on cognitive function, data on neuropsychiatric symptoms (NPS) and lifelong mental activities in these patients are scarce. Since NPS are associated with functional impairment, faster cognitive decline and faster progression to death, replication studies in more diverse settings and samples are warranted.MethodsWe prospectively recruited n = 69 CAA patients and n = 18 cognitively normal controls (NC). The number and severity of NPS were assessed using the Alzheimer’s Disease (AD) Assessment Scale’s (ADAS) noncognitive subscale. We applied different regression models exploring associations between NPS number or severity and group status (CAA vs. NC), CAA severity assessed with magnetic resonance imaging (MRI) or cognitive function (Mini-Mental State Examination (MMSE), ADAS cognitive subscale), adjusting for age, sex, years of education, arterial hypertension, AD pathology, and apolipoprotein E status. Mediation analyses were performed to test indirect effects of lifelong mental activities on CAA severity and NPS.ResultsPatients with CAA had 4.86 times (95% CI 2.20-10.73) more NPS and 3.56 units (95% CI 1.94–5.19) higher expected NPS severity than NC. Higher total CAA severity on MRI predicted 1.14 times (95% CI 1.01.-1.27) more NPS and 0.57 units (95% CI 0.19–0.95) higher expected NPS severity. More severe white matter hyperintensities were associated with 1.21 times more NPS (95% CI 1.05–1.39) and 0.63 units (95% CI 0.19–1.08) more severe NPS. NPS number (MMSE mean difference − 1.15, 95% CI -1.67 to -0.63; ADAS cognitive mean difference 1.91, 95% CI 1.26–2.56) and severity (MMSE − 0.55, 95% CI -0.80 to -0.30; ADAS cognitive mean difference 0.89, 95% CI 0.57–1.21) predicted lower cognitive function. Greater lifelong mental activities partially mediated the relationship between CAA severity and NPS (indirect effect 0.05, 95% CI 0.0007-0.13), and greater lifelong mental activities led to less pronounced CAA severity and thus to less NPS (indirect effect − 0.08, 95% CI -0.22 to -0.002).DiscussionThis study suggests that NPS are common in CAA, and that this relationship may be driven by CAA severity. Furthermore, NPS seem to be tied to lower cognitive function. However, lifelong mental activities might mitigate the impact of NPS in CAA.

Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.

Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger set of unrelated AFF cases using whole exome sequencing (WES). We performed gene-based association analysis on 139 European AFF cases and 196 controls matched for bisphosphonate use. We tested all rare, protein-altering variants using both candidate gene and hypothesis-free approaches. In the latter, genes suggestively associated with AFFs (uncorrected p-values <.01) were investigated in a Swedish whole-genome sequencing replication study and assessed in 46 non-European cases. In the candidate gene analysis, PLOD2 showed a suggestive signal. The hypothesis-free approach revealed 10 tentative associations, with XRN2, SORD, and PLOD2 being the most likely candidates for AFF. XRN2 and PLOD2 showed consistent direction of effect estimates in the replication analysis, albeit not statistically significant. Three SNPs associated with SORD expression according to the GTEx portal were in linkage disequilibrium (R2 ≥ 0.2) with an SNP previously reported in a genome-wide association study of AFF. The prevalence of carriers of variants for both PLOD2 and SORD was higher in Asian versus European cases. While we did not identify genes enriched for damaging variants, we found suggestive evidence of a role for XRN2, PLOD2, and SORD, which requires further investigation. Our findings indicate that genetic factors responsible for AFFs are not widely shared among AFF cases. The study provides a stepping-stone for future larger genetic studies of AFF.

Human vs. ChatGPT. Is it possible obtain comparable results in the analysis of a scientific systematic review?

There is growing interest in the use of ChatGPT in the writing and reviewing of scientific articles. In line with the nature of ChatGPT, we tested its effectiveness in the scientific article review process. We compared the findings of a systematic review of the published literature, produced by researchers in the traditional way, with a version created by ChatGPT, obtained by providing the same inputs as the original paper and a set of instructions (prompts) optimized to obtain the same type of result; we also identified the process that led to a comparable result. In order to assess the effectiveness of ChatGPT in analyzing the systematic review, we selected an existing, replicable study on the experience of health care professionals in the use of digital tools in clinical practice, from which we extracted and downloaded the related 17 publications in Pdf format. Subsequently, we uploaded these references into ChatGPT, setting specific prompts detailing the professional profile required, the context of the application, the expected outputs, and the level of creative freedom (temperature) to a minimum to limit the possibility of "hallucinations". After verifying ChatGPT's understanding of the task, we performed several iterations of the prompt until we obtained a result comparable to the original review. Finally, we systematically compared the results obtained by ChatGPT with those of the reference review. The analysis showed that ChatGPT's results are comparable to human results, although 4 iterations of the prompt are required to approach the human benchmark. Although ChatGPT showed comparable capabilities in text review, human authors exhibited greater analytical depth in interpretation. Due to their greater creative freedom, the authors offered more details about the benefits of digital tools in the hospital setting. ChatGPT, however, enriched the analysis by including elements not contemplated initially. The final comparison revealed comparable macro-themes between the two approaches, emphasizing the need for careful human validation to ensure the full integrity and depth of the analysis. Generative artificial intelligence (AI), represented by ChatGPT, showed significant potential in revolutionizing the production of scientific literature by supporting healthcare professionals. Although there are challenges that require careful evaluation, ChatGPT's results are comparable to human results. The key element is not so much the superiority of AI over humans but the human ability to configure and direct AI for optimal or even potentially superior human results.