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Alzheimer's & Dementia : the Journal of... Jul 2024We conducted admixture mapping and fine-mapping analyses to identify ancestry-of-origin loci influencing cognitive abilities.
INTRODUCTION
We conducted admixture mapping and fine-mapping analyses to identify ancestry-of-origin loci influencing cognitive abilities.
METHODS
We estimated the association of local ancestry intervals across the genome with five neurocognitive measures in 7140 diverse Hispanic and Latino adults (mean age 55 years). We prioritized genetic variants in associated loci and tested them for replication in four independent cohorts.
RESULTS
We identified nine local ancestry-associated regions for the five neurocognitive measures. There was strong biological support for the observed associations to cognitive function at all loci and there was statistical evidence of independent replication at 4q12, 9p22.1, and 13q12.13.
DISCUSSION
Our study identified multiple novel loci harboring genes implicated in cognitive functioning and dementia, and uncovered ancestry-relevant genetic variants. It adds to our understanding of the genetic architecture of cognitive function in Hispanic and Latino adults and demonstrates the power of admixture mapping to discover unique haplotypes influencing cognitive function, complementing genome-wide association studies.
HIGHLIGHTS
We identified nine ancestry-of-origin chromosomal regions associated with five neurocognitive traits. In each associated region, we identified single nucleotide polymorphisms (SNPs) that explained, at least in part, the admixture signal and were tested for replication in independent samples of Black, non-Hispanic White, and Hispanic/Latino adults with the same or similar neurocognitive tests. Statistical evidence of independent replication of the prioritized SNPs was observed for three of the nine associations, at chr4q12, chr9p22.1, and chr13q12.13. At all loci, there was strong biological support for the observed associations to cognitive function and dementia, prioritizing genes such as KIT, implicated in autophagic clearance of neurotoxic proteins and on mast cell and microglial-mediated inflammation; SLC24A2, implicated in synaptic plasticity associated with learning and memory; and MTMR6, implicated in phosphoinositide lipids metabolism.
PubMed: 38946675
DOI: 10.1002/alz.14082 -
Borderline Personality Disorder and... Jul 2024Psychiatrists often hesitate to diagnose borderline personality disorder (BPD). While individuals with BPD have reported both positive and negative experiences upon...
BACKGROUND
Psychiatrists often hesitate to diagnose borderline personality disorder (BPD). While individuals with BPD have reported both positive and negative experiences upon receiving their diagnosis, no study has specifically explored this issue among parents. Parents of children diagnosed with BPD can benefit from recently developed family-support interventions such as the Family Connections program. Our study aimed to explore the experiences of parents learning about their child's BPD diagnosis and to investigate the impact of the Family Connections program on their experiences.
METHODS
This qualitative study, conducted in France following the five-stage IPSE method, involved parents of children with BPD recruited through the Family Connections association in Versailles. We conducted semi-structured interviews and used purposive sampling for data collection until data saturation was reached. Data analysis was performed using a descriptive and structuring approach with NVivo 12 software to elucidate the structure of lived experiences.
RESULTS
The study included 21 parents. The structure of the lived experiences was characterized by three central axes: (1) the long and difficult road to diagnosis; (2) communicating the BPD diagnosis to parents: a necessary step; (3) the pitfalls of receiving the diagnosis. The Family Connections program provided significant support in these areas, particularly in understanding the diagnosis, enhancing communication with their child, and reducing social isolation.
CONCLUSION
These findings highlight the challenges parents face when receiving a BPD diagnosis for their child and underscore the need for an early, clear, and detailed explanation of the diagnosis. The specific experiences of receiving the diagnosis are indicative of the broader care experience parents undergo and highlight their need and right to be informed, supported, and guided throughout their child's treatment.
PubMed: 38946002
DOI: 10.1186/s40479-024-00258-z -
Clinical Nutrition ESPEN Jun 2024Accurate diagnosis of sarcopenia requires evaluation of muscle quality, which refers to the amount of fat infiltration in muscle tissue. In this study, we aim to...
Low muscle quality on a procedural computed tomography scan assessed with deep learning as a practical useful predictor of mortality in patients with severe aortic valve stenosis.
BACKGROUND & AIMS
Accurate diagnosis of sarcopenia requires evaluation of muscle quality, which refers to the amount of fat infiltration in muscle tissue. In this study, we aim to investigate whether we can independently predict mortality risk in transcatheter aortic valve implantation (TAVI) patients, using automatic deep learning algorithms to assess muscle quality on procedural computed tomography (CT) scans.
METHODS
This study included 1199 patients with severe aortic stenosis who underwent transcatheter aortic valve implantation (TAVI) between January 2010 and January 2020. A procedural CT scan was performed as part of the preprocedural-TAVI evaluation, and the scans were analyzed using deep-learning-based software to automatically determine skeletal muscle density (SMD) and intermuscular adipose tissue (IMAT). The association of SMD and IMAT with all-cause mortality was analyzed using a Cox regression model, adjusted for other known mortality predictors, including muscle mass.
RESULTS
The mean age of the participants was 80 ± 7 years, 53% were female. The median observation time was 1084 days, and the overall mortality rate was 39%. We found that the lowest tertile of muscle quality, as determined by SMD, was associated with an increased risk of mortality (HR 1.40 [95%CI: 1.15-1.70], p < 0.01). Similarly, low muscle quality as defined by high IMAT in the lowest tertile was also associated with increased mortality risk (HR 1.24 [95%CI: 1.01-1.52], p = 0.04).
CONCLUSIONS
Our findings suggest that deep learning-assessed low muscle quality, as indicated by fat infiltration in muscle tissue, is a practical, useful and independent predictor of mortality after TAVI.
PubMed: 38944828
DOI: 10.1016/j.clnesp.2024.06.013 -
Sleep Jun 2024Obstructive sleep apnea (OSA) increases the risk of cognitive impairment. Measures of sleep microarchitecture from EEG may help identify patients at risk of this...
STUDY OBJECTIVES
Obstructive sleep apnea (OSA) increases the risk of cognitive impairment. Measures of sleep microarchitecture from EEG may help identify patients at risk of this complication.
METHODS
Participants with suspected OSA (n=1142) underwent in-laboratory polysomnography and completed sleep and medical history questionnaires, and tests of global cognition (Montreal Cognitive Assessment, MoCA), memory (Rey Auditory Verbal Learning Test, RAVLT) and information processing speed (Digit-Symbol Coding, DSC). Associations between cognitive scores and stage 2 NREM sleep spindle density, power, frequency and %-fast (12-16Hz), odds-ratio product (ORP), normalized EEG power (EEGNP) and the delta:alpha ratio were assessed using multivariable linear regression (MLR) adjusted for age, sex, education, and total sleep time. Mediation analyses were performed to determine if sleep microarchitecture indices mediate the negative effect of OSA on cognition.
RESULTS
All spindle characteristics were lower in participants with moderate and severe OSA (p≤0.001, versus no/mild OSA) and positively associated with MoCA, RAVLT and DSC scores (false discovery rate corrected p-value, q≤0.026), except spindle power which was not associated with RAVLT (q=0.185). ORP during NREM sleep (ORPNREM) was highest in severe OSA participants (p≤0.001) but neither ORPNREM (q≥0.230) nor the delta:alpha ratio were associated with cognitive scores in MLR analyses (q≥0.166). In mediation analyses, spindle density and EEGNP (p≥0.048) mediated moderate-to-severe OSA's negative effect on MoCA scores while ORPNREM, spindle power and %-fast spindles mediated OSA's negative effect on DSC scores (p≤0.018).
CONCLUSION
Altered spindle activity, ORP and normalized EEG power may be important contributors to cognitive deficits in patients with OSA.
PubMed: 38943546
DOI: 10.1093/sleep/zsae141 -
Geriatrics & Gerontology International Jun 2024To identify factors associated with locomotive syndrome (LS) using medical questionnaire data and machine learning.
Identifying factors associated with locomotive syndrome using machine learning methods: The third survey of the research on osteoarthritis/osteoporosis against disability study.
AIM
To identify factors associated with locomotive syndrome (LS) using medical questionnaire data and machine learning.
METHODS
A total of 1575 participants underwent the LS risk tests from the third survey of the research on osteoarthritis/osteoporosis against disability study (ROAD) study. LS was defined as stage 1 or higher based on clinical decision limits of the Japanese Orthopaedic Association. A total of 1335 items of medical questionnaire data came from this study. The number of medical questionnaire items was reduced from 1335 to 331 in data cleaning. From the 331 items, identify factors associated with LS use by light gradient boosting machine-based recursive feature elimination with cross-validation. The performance of each set was evaluated using an average of seven performance metrics, including 95% confidence intervals, using a bootstrapping method. The smallest set of items is determined with the highest average of receiver operating characteristic area under the curve (ROC-AUC) under 20 items as association factors of LS. Additionally, the performance of the selected items was compared with the LS risk tests and Loco-check.
RESULTS
The nine items have the best average ROC-AUC under 20 items. The nine items show an average ROC-AUC of 0.858 (95% confidence interval 0.816-0.898). Age and back pain during walking were strongly associated with the prevalence of LS. The ROC-AUC of nine items is higher than that of existing questionnaire-based LS assessments, including the 25-question Geriatric Locomotor Scale and Loco-check.
CONCLUSIONS
The identified nine items could aid early LS detection, enhancing understanding and prevention. Geriatr Gerontol Int 2024; ••: ••-••.
PubMed: 38943538
DOI: 10.1111/ggi.14923 -
Medical Teacher Jun 2024This paper explores issues pertinent to teaching and assessment of clinical skills at the early stages of medical training, aimed at preventing academic integrity...
PURPOSE OF ARTICLE
This paper explores issues pertinent to teaching and assessment of clinical skills at the early stages of medical training, aimed at preventing academic integrity breaches. The drivers for change, the changes themselves, and student perceptions of those changes are described.
METHODS
Iterative changes to a summative high stakes Objective Structured Clinical Examination (OSCE) assessment in an undergraduate medical degree were undertaken in response to perceived/known breaches of assessment security. Initial strategies focused on implementing best practice teaching and assessment design principles, in association with increased examination security.
RESULTS
These changes failed to prevent alleged sharing of examination content between students. A subsequent iteration saw a more radical deviation from classic OSCE assessment design, with students being assessed on equivalent competencies, not identical items (OSCE stations). This more recent approach was broadly acceptable to students, and did not result in breaches of academic integrity that were detectable.
CONCLUSIONS
Ever increasing degrees of assessment security need not be the response to breaches of academic integrity. Use of non-identical OSCE items across a cohort, underpinned by constructive alignment of teaching and assessment may mitigate the incentives to breach academic integrity, though face validity is not universal.
PubMed: 38943517
DOI: 10.1080/0142159X.2024.2372084 -
Nutrition Journal Jun 2024Low fruit and vegetable consumption is a leading contributor to non-communicable disease risk. However, understanding of barriers and facilitators to fruit and vegetable...
BACKGROUND
Low fruit and vegetable consumption is a leading contributor to non-communicable disease risk. However, understanding of barriers and facilitators to fruit and vegetable intake in rural settings is limited. This study used a mixed methods approach to determine the barriers and facilitators to increasing fruit and vegetable intake in rural Australian adults and to identify if these varied by gender.
METHODS
Quantitative and qualitative data were used from the 2019 Active Living Census, completed by adults living in north-west Victoria, Australia. Data were collected on fruit and vegetable intakes and barriers and facilitators to meeting fruit and vegetable recommendations. Multivariate logistic regression analyses were used to investigate the association between facilitators, classified using the socio-ecological framework, and meeting recommendations. Machine learning was used to automate content analysis of open ended information on barriers.
RESULTS
A total of 13,464 adults were included in the quantitative analysis (51% female; mean age 48 [SE 0.17] years) with 48% and 19% of participants consuming the recommended two serves of fruit and five serves of vegetables daily, respectively. Strongest facilitators to fruit consumption were at the individual level: never smoked (OR: 2.12 95% CI: 1.83-2.45) and not drinking alcohol (OR: 1.47 95% CI: 1.31-1.64). Strongest facilitators for vegetable consumption were found at all levels; i.e., individual level: used to smoke (OR: 1.48 95% CI: 1.21-1.80), social-environmental level: living with three or more people (OR: 1.41 95% CI: 1.22-1.63), and physical-environmental level: use community gardens (OR: 1.20 95% CI: 1.07-1.34). Qualitative analyses (fruit n = 5,919; vegetable n = 9,601) showed that barriers to fruit consumption included a preference for other snacks and desire to limit sugar content, whilst lack of time and unachievable guidelines were barriers for vegetables. Barriers and facilitators differed by gender; females experienced barriers due to having a more varied diet while males reported a dislike of the taste.
CONCLUSIONS
Barriers and facilitators to fruit and vegetable consumption among rural Australian adults were identified across all levels of the socio-ecological framework and varied between fruit and vegetables and by gender. Strategies that address individual, social, and physical-level barriers are required to improve consumption.
Topics: Humans; Vegetables; Male; Female; Fruit; Middle Aged; Rural Population; Adult; Diet; Victoria; Feeding Behavior; Australia; Aged
PubMed: 38943157
DOI: 10.1186/s12937-024-00972-y -
BMC Cardiovascular Disorders Jun 2024Pulmonary transit time (PTT) can be measured automatically from arterial input function (AIF) images of dual sequence first-pass perfusion imaging. PTT has been...
BACKGROUND
Pulmonary transit time (PTT) can be measured automatically from arterial input function (AIF) images of dual sequence first-pass perfusion imaging. PTT has been validated against invasive cardiac catheterisation correlating with both cardiac output and left ventricular filling pressure (both important prognostic markers in heart failure). We hypothesized that prolonged PTT is associated with clinical outcomes in patients with heart failure.
METHODS
We recruited outpatients with a recent diagnosis of non-ischaemic heart failure with left ventricular ejection fraction (LVEF) < 50% on referral echocardiogram. Patients were followed up by a review of medical records for major adverse cardiovascular events (MACE) defined as all-cause mortality, heart failure hospitalization, ventricular arrhythmia, stroke or myocardial infarction. PTT was measured automatically from low-resolution AIF dynamic series of both the LV and RV during rest perfusion imaging, and the PTT was measured as the time (in seconds) between the centroid of the left (LV) and right ventricle (RV) indicator dilution curves.
RESULTS
Patients (N = 294) were followed-up for median 2.0 years during which 37 patients (12.6%) had at least one MACE event. On univariate Cox regression analysis there was a significant association between PTT and MACE (Hazard ratio (HR) 1.16, 95% confidence interval (CI) 1.08-1.25, P = 0.0001). There was also significant association between PTT and heart failure hospitalisation (HR 1.15, 95% CI 1.02-1.29, P = 0.02) and moderate correlation between PTT and N-terminal pro B-type natriuretic peptide (NT-proBNP, r = 0.51, P < 0.001). PTT remained predictive of MACE after adjustment for clinical and imaging factors but was no longer significant once adjusted for NT-proBNP.
CONCLUSIONS
PTT measured automatically during CMR perfusion imaging in patients with recent onset non-ischaemic heart failure is predictive of MACE and in particular heart failure hospitalisation. PTT derived in this way may be a non-invasive marker of haemodynamic congestion in heart failure and future studies are required to establish if prolonged PTT identifies those who may warrant closer follow-up or medicine optimisation to reduce the risk of future adverse events.
Topics: Humans; Heart Failure; Male; Female; Middle Aged; Aged; Predictive Value of Tests; Time Factors; Prognosis; Ventricular Function, Left; Myocardial Perfusion Imaging; Stroke Volume; Risk Factors; Pulmonary Circulation; Natriuretic Peptide, Brain; Peptide Fragments; Pulmonary Artery; Risk Assessment; Ventricular Function, Right; Magnetic Resonance Imaging
PubMed: 38943084
DOI: 10.1186/s12872-024-04003-w -
BMC Nursing Jun 2024Case analysis is a dynamic and interactive teaching and learning strategy that improves critical thinking and problem-solving skills. However, there is limited evidence...
BACKGROUND
Case analysis is a dynamic and interactive teaching and learning strategy that improves critical thinking and problem-solving skills. However, there is limited evidence about its efficacy as an assessment strategy in nursing education.
OBJECTIVES
This study aimed to explore nursing students' perceived efficacy of case analysis as an assessment method for clinical competencies in nursing education.
METHODS
This study used a mixed methods design. Students filled out a 13-item study-advised questionnaire, and qualitative data from the four focus groups was collected. The setting of the study was the College of Nursing at Sultan Qaboos University, Oman. Descriptive and independent t-test analysis was used for the quantitative data, and the framework analysis method was used for the qualitative data.
RESULTS
The descriptive analysis of 67 participants showed that the mean value of the perceived efficacy of case analysis as an assessment method was 3.20 (SD = 0.53), demonstrating an 80% agreement rate. Further analysis indicated that 78.5% of the students concurred with the acceptability of case analysis as an assessment method (mean = 3.14, SD = 0.58), and 80.3% assented its association with clinical competencies as reflected by knowledge and cognitive skills (m = 3.21, SD = 0.60). No significant difference in the perceived efficacy between students with lower and higher GPAs (t [61] = 0.05, p > 0.05) was identified Three qualitative findings were discerned: case analysis is a preferred assessment method for students when compared to MCQs, case analysis assesses students' knowledge, and case analysis assesses students' cognitive skills.
CONCLUSIONS
This study adds a potential for the case analysis to be acceptable and relevant to the clinical competencies when used as an assessment method. Future research is needed to validate the effectiveness of case analysis exams in other nursing clinical courses and examine their effects on academic and clinical performance.
PubMed: 38943079
DOI: 10.1186/s12912-024-02102-9 -
GeroScience Jun 2024A growing body of research suggested that there was a link between poor periodontal health and systemic diseases, particularly with the early development of cognitive... (Review)
Review
A growing body of research suggested that there was a link between poor periodontal health and systemic diseases, particularly with the early development of cognitive disorders, dementia, and depression. This is especially true in cases of changes in diet, malnutrition, loss of muscular endurance, and abnormal systemic inflammatory response. Our study aimed to determine the extent of these associations to better target the multi-level healthy aging challenge investigating the impact of periodontal disease on cognitive disorders (cognitive impairment and cognitive decline), dementia, and depression. We conducted a comprehensive literature search up to November 2023 using six different electronic databases. Two independent researchers assessed the eligibility of 7363 records against the inclusion criteria and found only 46 records that met the requirements. The study is registered on PROSPERO (CRD42023485688). We generated random effects pooled estimates and 95% confidence intervals (CI) to evaluate whether periodontal disease increased the risk of the investigated outcomes. The quality assessment revealed moderate quality of evidence and risk of bias. Periodontal disease was found to be associated with both cognitive disorders (relative risk (RR) 1.25, 95% CI 1.11-1.40, in the analysis of cross-sectional studies); cognitive impairment (RR 3.01, 95% CI 1.52-5.95 for longitudinal studies, cognitive decline); and dementia (RR 1.22, 95% CI 1.10-1.36). However, no significant increased risk of depression among subjects with periodontal disease was found (RR 1.07, 95% CI 0.95-1.21). Despite the association with two of the three explored outcomes, the available evidence on periodontal diseases and dementia, cognitive disorders, and depression is controversial due to several limitations. Therefore, further investigations involving validated and standardized tools are required.
PubMed: 38943006
DOI: 10.1007/s11357-024-01243-8