Categories
Nevin Manimala Statistics

A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort

Genet Med. 2026 Jan 9:101684. doi: 10.1016/j.gim.2026.101684. Online ahead of print.

ABSTRACT

PURPOSE: We characterized dimensions of clinical utility in a prospective, observational cohort of patients with rare diseases undergoing genome sequencing (GS).

METHODS: Clinical utility data (diagnostic, clinical management and research recommended, avoided, or pursued for index cases and relatives) were collected from medical records and summarized using descriptive statistics. A multivariable regression model characterized factors associated with each type of utility, reported as odds ratios with 95% confidence intervals.

RESULTS: Among 715 cases who underwent GS, results triggered diagnostic investigations in 17.5%, clinical management activities in 35.8%, research opportunities in 30.8%, and genetic counseling/testing for relatives in 19.0%. Results also limited diagnostic investigations in 87.9%. Regression analyses identified clinical, geographic, and ethnicity-related factors as significantly associated with utility. Diagnostic/potentially diagnostic results increased odds of changes in diagnostic investigations, management and genetic testing recommendations for relatives. Patients from larger sites had higher odds of management or research recommendations and patients of non-European ethnicity were less likely to pursue recommendations.

CONCLUSIONS: Our findings provide evidence that GS has clinical utility beyond diagnostic care, including management, research, as well as familial care and preventing unnecessary medical activity. To determine which factors are associated with utility, multiple dimensions of care and broad sociodemographic factors warrant consideration.

PMID:41527898 | DOI:10.1016/j.gim.2026.101684

Categories
Nevin Manimala Statistics

Association Between Self-Critical Rumination and Attitudes Toward Aging Among Older Adults

Clin Gerontol. 2026 Jan 13:1-12. doi: 10.1080/07317115.2026.2615710. Online ahead of print.

ABSTRACT

OBJECTIVES: This study examined the association between self-critical rumination and attitudes toward aging in older adults.

METHODS: A cross-sectional descriptive design was employed between December 2024 and September 2025 with 391 older adults in Türkiye. Data were collected using the Self-Critical Rumination Scale (SCRS) and the European Attitudes to Aging Questionnaire (EAAQ). Analyses included descriptive statistics, Pearson correlation, and linear regression.

RESULTS: A moderately strong negative correlation was found between SCRS and EAAQ total scores (r = -.518, p < .001). Higher SCRS scores were positively correlated with the EAAQ psychosocial loss subscale (r = .507, p < .001) and negatively correlated with physical change and psychological growth subscales (p < .001). Self-critical rumination accounted for 26.9% of the variance in attitudes toward aging (B = -.896, R2 = .269, p < .001). Participants with higher income, better perceived health, no sleep problems, and regular eating habits reported lower rumination and more positive attitudes.

CONCLUSIONS: Elevated self-critical rumination was associated with more negative attitudes toward aging, particularly regarding psychosocial loss. Health-related factors significantly influenced both rumination and attitudes toward aging.

CLINICAL IMPLICATIONS: Targeted cognitive-behavioral interventions and health-promoting strategies, implemented by psychiatric nurses, may support positive aging attitudes and psychological well-being in older adults.

PMID:41527894 | DOI:10.1080/07317115.2026.2615710

Categories
Nevin Manimala Statistics

Operating Room Traffic, Door Opening and Closing: A Clinical Observational Study

J Patient Saf. 2026 Jan 13. doi: 10.1097/PTS.0000000000001459. Online ahead of print.

ABSTRACT

OBJECTIVE: The aim of this study is to determine the frequency of opening of operating room doors during cardiovascular surgery operations, the number of personnel entering and exiting, and the reasons for these entries.

MATERIALS AND METHODS: This descriptive observational study was carried out in the cardiovascular surgery operating rooms of a university hospital. Using purposive sampling, 22 consecutive surgeries were observed, and data were collected with an “Intraoperative Observation Form.” Descriptive statistics were used for analysis.

RESULTS: The mean number of door openings per procedure was 74.18±41.54, corresponding to 16.92±7.33 openings per hour. Individuals opening the doors were support staff (27.8%), nurses (24.7%), perfusionists/others (18.9%), surgeons (15.6%), and anesthesiologists/anesthesia technicians (13.1%). The leading reason for entry was equipment retrieval (27.2%). Notably, 20.3% of entries were unrelated to the ongoing surgery.

CONCLUSION: Operating-room traffic is characterized by frequent door openings and substantial personnel movement, conditions that may degrade air quality and heighten the risk of surgical-site infection. Educational initiatives, improved equipment planning, and institutional policy development are recommended to reduce unnecessary traffic.

PMID:41527873 | DOI:10.1097/PTS.0000000000001459

Categories
Nevin Manimala Statistics

Evoking Change Through Acceptance and Awareness: A Sysematic Review of Third-Wave Therapies for Substance Use Disorder

Subst Use Misuse. 2026 Jan 13:1-22. doi: 10.1080/10826084.2025.2606861. Online ahead of print.

ABSTRACT

BACKGROUND: Substance use disorders (SUDs) are a major global health burden, and third-wave therapies that target transdiagnostic processes such as psychological flexibility and mindfulness have emerged as promising options. This systematic review synthesized evidence on third-wave interventions for adults with diagnostic and statistical manual of mental disorder (DSM)-defined SUDs.

METHODS: A comprehensive search of seven databases (2014-2025) identified randomized and non-randomized studies of acceptance and commitment therapy (ACT), related mindfulness-based programs, and dialectical behavioral therapy skills training. Two reviewers screened records, extracted data, assessed risk of bias with Risk of Bias 2 (RoB 2) and risk of bias in non-randomized studies of interventions (ROBINS-I), and synthesized findings using SWiM-consistent narrative methods. The review was prospectively registered in PROSPERO (CRD420251028610).

RESULTS: Forty-seven studies (35 randomized, 12 non-randomized) met inclusion criteria. Across modalities, third-wave interventions yielded small-to-moderate benefits on abstinence, craving, and substance use outcomes compared with control conditions, with larger and more consistent gains in psychological flexibility, emotion regulation, and mindfulness. Effect sizes varied and most trials showed some concerns or serious risk of bias, resulting in generally low-to-moderate certainty of evidence.

CONCLUSIONS: Third-wave interventions may serve as adjunctive or alternative SUD treatments by engaging targeted mechanisms, enhancing psychological functioning, and producing modest but clinically relevant substance-use benefits. More rigorous, adequately powered mechanism-focused trials are needed to clarify comparative efficacy and guide process-based personalization and implementation in routine addiction services.

PMID:41527866 | DOI:10.1080/10826084.2025.2606861

Categories
Nevin Manimala Statistics

UK Foundation doctors’ perceptions of preference informed allocation: a national survey and thematic analysis

Postgrad Med J. 2026 Jan 13:qgaf239. doi: 10.1093/postmj/qgaf239. Online ahead of print.

ABSTRACT

INTRODUCTION: In 2024, the UK Foundation Programme Office introduced Preference Informed Allocation (PIA) to replace the Educational Performance Measure and Situational Judgement Test (SJT) for allocating Foundation Year 1 (FY1) posts. This study evaluates FY1 doctors’ perceptions of PIA’s fairness and effectiveness.

METHODS: A nationwide survey was distributed to FY1 doctors following induction (n = 9702 eligible). Perceptions on PIA fairness, SJT removal, and Specialised Foundation Programme (SFP) allocation were collected using a five-point Likert scale (1 = strongly disagree, 5 = strongly agree). Quantitative data were analysed using non-parametric statistics, and free-text responses were examined using reflexive thematic analysis.

RESULTS: A total of 1340 FY1s responded (13.8%), representing graduates from 56 medical schools. Overall, 75.2% received their first-choice foundation school, and 91.5% were placed within their top five. Most respondents disagreed that PIA was equitable (median 2 [IQR 1-3]) or should be used for SFP allocation (median 2 [IQR 1-3]), but agreed they were pleased not to have taken the SJT [median 4 (IQR 3-5)]. UK trained graduates and younger, white respondents viewed PIA less favourably than international, older, and minority-ethnic graduates. Thematic analysis emphasized loss of perceived control, calls for greater transparency, and preferences for merit-based or hybrid allocation models.

CONCLUSIONS: While PIA maintained high first-choice placements, concerns about fairness were prominent, particularly among UK graduates. Many respondents favoured reintroducing merit-based components. Continued evaluation is needed to ensure a fair, transparent, and acceptable allocation process for future graduates. Key messages What is already known on this topic: The UK Foundation Programme Office replaced performance-based allocation with preference informed allocation (PIA) in 2024, aiming to improve fairness, reduce stress, and align placements with applicant preferences. However, graduate perceptions of this change have not been fully explored. What this study adds: Most respondents disagreed that PIA was a fair allocation system and opposed its use for the specialized foundation programme, particularly younger, white, and UK graduates. Many expressed preferences for reintroducing merit-based elements, such as a standardized clinical examination. How this study might affect research, practice, or policy: The findings highlight the need for ongoing evaluation of the PIA system to ensure fairness, transparency, and acceptability among medical graduates, and may help inform future postgraduate allocation reforms.

PMID:41527827 | DOI:10.1093/postmj/qgaf239

Categories
Nevin Manimala Statistics

Management of Sudden Onset Sensorineural Hearing Loss and the Role of Pentoxyphylline as an Add-on Therapy to Conventional Treatment

Cell Physiol Biochem. 2025 Mar 11;59(2):121-130.

ABSTRACT

BACKGROUND/AIMS: Sudden Sensorineural Hearing Loss (SSNHL) is a rapid-onset condition with varied etiologies, creating uncertainty in optimal treatment strategies. This study aimed to assess whether adding pentoxifylline to standard antiviral and steroid therapy could enhance hearing recovery in SSNHL patients.

METHODS: This randomized controlled trial was conducted between January 2021 and June 2023 in a private clinic in Chennai district, Tamil Nadu. Seventy-two patients aged 20-70 years with SSNHL onset within 7 days were randomized to receive either standard therapy (antiviral and steroids) or additional pentoxifylline. Serial pure-tone audiometry was performed to evaluate hearing recovery.

RESULTS: The intervention group showed significantly improved hearing recovery, particularly when treatment was initiated within 72 hours of symptom onset. Non-responders underwent MRI of the brain, revealing cerebellopontine angle pathology in selected cases. Statistical analysis confirmed superior outcomes with pentoxifylline add-on therapy (p < 0.05).

CONCLUSION: Pentoxifylline may enhance hearing recovery when combined with antiviral and steroid therapy in SSNHL, especially when administered early. Intratympanic dexamethasone and MRI are recommended for non-responders.

PMID:41527825

Categories
Nevin Manimala Statistics

High Burden of Premature Ventricular Contractions Upregulates Transcriptional Markers of Inflammation and Promotes Adverse Cardiac Remodeling Linked to Cardiomyopathy

Circ Arrhythm Electrophysiol. 2026 Jan 13:e014195. doi: 10.1161/CIRCEP.125.014195. Online ahead of print.

ABSTRACT

BACKGROUND: Premature ventricular contractions (PVCs) are the most prevalent ventricular arrhythmia in adults. High PVC burden can lead to left ventricular systolic dysfunction, eccentric hypertrophy, and an increased risk of heart failure and sudden cardiac death. Inadequate angiogenesis is a key determinant in the transition from adaptive to maladaptive cardiac hypertrophy, and fibrosis is a risk factor for arrhythmia and sudden cardiac death. We quantitatively assessed structural remodeling and transcriptional alterations in PVC-induced cardiomyopathy (PVC-CM).

METHODS: Animals were implanted with modified pacemakers to deliver bigeminal PVCs (200-220 ms coupling interval) for 12 weeks. Collagen deposition and interstitial ultrastructure of left ventricular samples were analyzed using light and transmission electron microscopy, respectively. Pericytes, fibroblasts, myocytes, smooth muscle, and endothelial cells were imaged using confocal microscopy, quantified with an artificial intelligence-based segmentation analysis, and compared using hierarchical statistics. Transcriptional changes were assessed via RNAseq, and protein expression was assessed using western blot.

RESULTS: Although cardiomyocytes hypertrophied in PVC-CM, capillary rarefaction was overcome by an increase in the capillary-to-myocyte ratio. Additionally, thicker blood vessels were more abundant in PVC-CM. Fibroblast-to-myocyte ratio more than doubled, interstitial collagen fibers increased, and interstitial space thickened in PVC-CM. Transcripts involved in interstitial remodeling, inflammatory response, and alarmins were strongly elevated in PVC-CM, showing enrichment of NF-κB (nuclear factor kappa-light-chain-enhancer of activated B cells) transcriptional signature. These results coincide with elevated levels of the proinflammatory cytokine IL (interleukin)‑1β, the inflammasome component NLRP3 (nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3), and increased expression of NF‑κB p65 (RelA).

CONCLUSIONS: Although the angiogenic response meets the metabolic demands of cardiac hypertrophy, upregulated markers of inflammation and cardiomyopathy linked to reactive fibrosis collectively represent an adverse left ventricular remodeling in PVC-CM that could provide the substrate for heart failure, arrhythmias, and sudden cardiac death in PVC-CM.

PMID:41527819 | DOI:10.1161/CIRCEP.125.014195

Categories
Nevin Manimala Statistics

Optimization of Contrast Injection Protocols for Time-Resolved MRA Technique in Dogs: A Comparative Study of Vascular Signal Characteristics and Artifacts

Vet Radiol Ultrasound. 2026 Jan;67(1):e70107. doi: 10.1111/vru.70107.

ABSTRACT

This study aimed to optimize magnetic resonance angiography (MRA) protocols for time-resolved MRA imaging in dogs by using different injection rates and contrast volumes. In this experimental and prospective study, four protocols combining two flow rates (0.2 and 2.0 mL/s) and two contrast volumes (0.2 and 0.4 mL/kg, equivalent to 0.1 and 0.2 mmol/kg gadolinium) were applied in five healthy beagle dogs. Quantitative measurements, including maximum signal intensity, peak enhancement time, diagnostic window, and signal homogeneity, were obtained for the common carotid artery and external jugular vein. Qualitative assessment included arterial visibility persistence, wall margin clarity, and artifact evaluation. Statistical comparisons were performed using the Friedman and Wilcoxon signed-rank tests, and effect size analysis was used to further interpret nonsignificant trends. The low-flow-high-volume protocol (0.2 mL/s, 0.4 mL/kg) yielded the longest diagnostic window and superior vessel visibility with minimal venous contamination, while maintaining comparable maximum signal intensity to higher flow rate protocols. Artifact-related issues such as ringing and intravoxel dephasing were least observed in the low-flow-high-volume protocol. Although high-flow-high-volume protocol showed improved signal homogeneity, it was associated with greater artifact susceptibility. Interobserver agreement ranged from fair to substantial (κ = 0.457-0.681), with greater variability in artifact-related scores. These findings suggest that a slower injection rate with higher contrast volume, as seen in the low-flow-high-volume protocol, provides the best balance of image quality and diagnostic performance, supporting its recommendation as a preferred protocol for small-animal time-resolved MRA.

PMID:41527816 | DOI:10.1111/vru.70107

Categories
Nevin Manimala Statistics

Fully automated regional lung perfusion quantification in SPECT/CT images with open-source software

Nucl Med Commun. 2026 Jan 13. doi: 10.1097/MNM.0000000000002102. Online ahead of print.

ABSTRACT

BACKGROUND: Nuclear medicine’s lung perfusion scintigraphy is a valuable imaging technique for assessing many health conditions. Various methods have been described in the literature for segmenting and quantifying the lung perfusion in single-photon emission computed tomography/computed tomography (SPECT/CT) images, but they rely on commercially available software, require manual definition of regions/volumes of interest, or both.

OBJECTIVE: This study proposes a never reported approach to segment and quantify SPECT (and SPECT/CT) lung perfusion images by developing a fully automated algorithm utilizing only free software.

METHODS: Python programming language was used to write a completely automated algorithm for 3D Slicer to segment and quantify SPECT and SPECT/CT images. The algorithm was tested in 37 lung perfusion images, collected retrospectively from a public hospital database.

RESULTS: The algorithm was able to perform fully automated lobar perfusion quantification. The mean relative perfusion found were: LUL – 23.5%, LLL – 22.3%, RUL – 24.6%, RML – 7.9%, and RLL – 21.7%. The algorithm also segmented and quantified the relative perfusion of the left (L) and right (R) lungs without the aid of CT: L – 44.6% and R – 55.3%; and found no statistical difference in the results obtained with or without CT (P-value = 0.38 and 0.44, respectively).

CONCLUSION: The algorithm created required no user interaction, presented good agreement with previously reported works, and was on average 10 times faster than the fastest algorithm reported on the literature, thus making it a free, efficient, and reliable tool for assisting diagnosis.

PMID:41527776 | DOI:10.1097/MNM.0000000000002102

Categories
Nevin Manimala Statistics

Übersichtsarbeiten / Review Articles. Sexualisierte Gewalt und technologiegestützte sexualisierte Gewalt: Ein Überblick über die aktuelle Epidemiologie, Definitionen und deren Folgen für betroffene Kinder und Jugendliche / Sexual Abuse and Technology-Facilitated Sexual Abuse: An Overview of Current Epidemiology, Definitions, and Consequences for Affected Children and Adolescents

Prax Kinderpsychol Kinderpsychiatr. 2025 Dec;74(8):649-663. doi: 10.13109/prkk.2025.74.8.649.

ABSTRACT

Sexual Abuse and Technology-Facilitated Sexual Abuse: An Overview of Current Epidemiology, Definitions, and Consequences for Affected Children and Adolescents Child sexual abuse represents a growing global problem, increasingly reflected in technologyfacilitated child sexual abuse. In Germany, a total of 18,085 cases of child sexual abuse were registered in 2024, while technology-facilitated abuse has risen sharply in recent years. In 2023, the number of cases involving the production, distribution, acquisition, and possession of abusive material reached a new peak of 45,191 cases (plus 7.4 %) and has more than tripled since 2019 (Bundeskriminalamt, 2024). There are fluid transitions between sexual abuse and technology-facilitated sexual abuse. The article examines the long-term psychosocial, physical, and neurobiological consequences for those affected, which are diverse and often extend to the entire social environment. Particular emphasis is placed on the specific burden of technology- facilitated abuse, where the digital presence of abusive material can lead to persistent feelings of helplessness and prolong the experience of abuse. In light of the persistently high rate of child sexual abuse and the increasing prevalence of technology-facilitated sexual abuse, the need for comprehensive prevention and intervention strategies is underscored. The article also emphasizes the importance of early awareness-raising and training to effectively support affected children and adolescents.

PMID:41527755 | DOI:10.13109/prkk.2025.74.8.649