Category: Statistics

Leukemia. 2025 Dec 8. doi: 10.1038/s41375-025-02804-2. Online ahead of print.

ABSTRACT

Childhood acute lymphoblastic leukemia (ALL) is a genetically heterogeneous disease, and while somatic alterations inform diagnosis and treatment stratification, germline variants – particularly common host genome variants – rarely influence clinical care. Over the past decade, various host genome variant studies have uncovered numerous common variants associated with ALL susceptibility, treatment efficacy, and toxicity risk. Yet, less than a handful have reached clinical implementation, with TPMT and NUDT15 variants being the only ones widely used clinically. Whether a variant can be readily translated into the clinical setting primarily depends on four features: (1) Phenotype severity, (2) phenotype rarity and the proportion of cases (overall or in subsets of patients) accounted for by genetic variants, (3) the application of the variant as an add-on clinical decision support tool, and (4) the availability, cost, and potential side effects of interventions and/or prophylaxis. Key barriers for such clinical translation include insufficient effect sizes, lack of replication across diverse populations, and lack of well-established treatment modification strategies. However, large-scale international collaborations can generate the necessary statistical power, including enabling more complex bioinformatic approaches, such as polygenic risk scores and more advanced machine learning strategies. In this review, we outline the necessary steps toward bridging the gap between genetic discovery and clinical practice.

PMID:41361660 | DOI:10.1038/s41375-025-02804-2

Calcif Tissue Int. 2025 Dec 9;116(1):149. doi: 10.1007/s00223-025-01463-w.

ABSTRACT

Studies evaluating habitual dietary copper intake and bone mineral density have garnered significant interest due to copper’s indispensable role in collagen cross-linking and osteogenesis. These investigations, which employ dietary assessment tools alongside DXA measurements of skeletal sites, have nonetheless yielded heterogeneous results regarding the impact of copper consumption on bone health. Consequently, elucidating the nature and magnitude of this association is of paramount importance for both nutritional epidemiology and osteoporosis prevention. The review was conducted in accordance with PRISMA guidelines and registered in Prospero (CRD42024617075). Electronic literature searches were performed up to February 2025 in EMBASE, PubMed, OVID, Scopus, and Web of Science to identify observational studies assessing dietary copper intake and DXA-measured BMD, and study quality was appraised using the Newcastle-Ottawa Scale. Data were pooled via a generic inverse-variance random-effects model, with heterogeneity assessed by the Q test and I² statistic. A random-effects meta-analysis of three studies (n = 9059) found that higher dietary copper intake was associated with a modest but significant increase in lumbar spine BMD (MD 0.02 g/cm²; 95% CI 0.00-0.04; p = 0.04; I² = 36%), whereas a separate meta-analysis of four studies (n = 14,345) for hip BMD showed a similar MD of 0.02 g/cm² that did not reach significance (95% CI – 0.00-0.04; p = 0.07; I² = 74%). Higher dietary copper intake is modestly associated with increased lumbar spine BMD, while evidence for hip BMD remains inconclusive, underscoring copper’s potential role in osteoporosis prevention.

PMID:41361655 | DOI:10.1007/s00223-025-01463-w

Nat Biomed Eng. 2025 Dec 8. doi: 10.1038/s41551-025-01589-0. Online ahead of print.

NO ABSTRACT

PMID:41361600 | DOI:10.1038/s41551-025-01589-0

Commun Psychol. 2025 Dec 8;3(1):181. doi: 10.1038/s44271-025-00337-z.

ABSTRACT

Older adults prioritize emotional well-being in their relationships, but communication of emotion may differ during in-person and phone contact. Older adults (N = 266, aged 65-90) completed ecological momentary assessments (EMA; n = 4,627) reporting their social encounters via different modes of social contact and positive and negative mood every 3 hours. Participants wore a device with the Electronically Activated Recorder (EAR) app which recorded 30 seconds every 7 minutes (n = 104,746 sound files). Linguistic Inquiry and Word Count (LIWC) extracted linguistic features reflecting verbal communication of emotion from the sound file transcriptions. Multilevel models revealed that in-person and phone contact were associated with communicating more positive emotions, and in-person contact was associated with communicating more negative emotions. There was no statistically significant evidence that the association between communicating positive emotions and more positive and less negative mood varied by form of communication. Participants who had less in-person contact on average experienced a greater increase in positive mood when they communicated positive emotions. This study emphasizes the emotional benefits of social contact, particularly for communicating positive feelings. Findings highlight the role of in-person contact in older adults’ daily lives, allowing for the verbal communication of negative emotions.

PMID:41361582 | DOI:10.1038/s44271-025-00337-z

NPP Digit Psychiatry Neurosci. 2024 Jul 24;2(1):12. doi: 10.1038/s44277-024-00013-w.

ABSTRACT

Social isolation and social impairment are hallmarks of progression as well as predictors of relapse in psychiatric disorders. We conducted a pilot study to assess the feasibility of sensing the social activity phenotype and loneliness using active and passive markers collected using a smartphone application. The study included 9 schizophrenia and bipolar disorder patients followed in the Bipolar Longitudinal study for at least 1 month and for whom mobile communication data was collected using the Beiwe smartphone application. Subjects completed daily surveys on digital and in-person social activity, and feelings of being outgoing or lonely. We described the level and variability of social activity features. We employed k-means clustering to identify “important contacts”. Further, we investigated whether social network-derived features of mobile communication are independent predictors of weekly counts of outgoing calls and text, weekly average self-reported digital social activity, and loneliness using mixed effect models and clustering with dynamic time warping distance. Subjects were followed between 5 and 208 weeks (number of days of observation = 2538). The k-means cluster analysis approach identified the number of “important contacts” among close friends and family members as reported in clinical interviews. The cluster analysis and longitudinal regression analysis indicate that the number of individuals a person communicates with on their phone is an independent predictor of perceived loneliness, with stronger evidence when “important contacts” only are included. This study provides preliminary evidence that the number of “important contacts” a person communicates with on their phone is a promising marker to capture subjects’ engagement in mobile communication activity and perceived loneliness.

PMID:41361576 | DOI:10.1038/s44277-024-00013-w

Sci Rep. 2025 Dec 8. doi: 10.1038/s41598-025-31739-y. Online ahead of print.

ABSTRACT

Propofol infusion syndrome (PRIS) is a rare, severe complication from prolonged high-dose propofol use. Predictive biomarkers, especially in spinal surgery, remain unclear. This study aimed to biochemically and pharmacologically characterize risk markers of PRIS following high-dose propofol infusion in patients undergoing elective spinal surgery. A quasi-experimental interventional study was conducted in 2024 at Allameh Bohlool Gonabadi Hospital. Fifty-four patients aged 20-70 years scheduled for elective spinal surgery and classified as ASA physical status I or II were enrolled via convenience sampling. Baseline blood samples were collected one day prior to surgery. Propofol maintenance anesthesia were performed using standardized dosages, including continuous intravenous infusion at 10 mg/kg/h. A second blood sample was taken four hours after propofol infusion initiation. Biochemical parameters assessed included triglycerides, HDL, LDL, total cholesterol, arterial blood pH, bicarbonate ion (HCO3-), and base excess (BE). Data analysis employed paired t-tests and Pearson correlation coefficients with significance set at p < 0.05. Serum triglyceride levels increased significantly postoperatively from a mean of 153.07 mg/dL to 214.30 mg/dL (p < 0.001, CI = (- 1.19,- 0.57)). Other biochemical markers showed no statistically significant changes. Additionally, surgical duration correlated with changes in bicarbonate levels and lipid profiles. High-dose propofol infusion during elective spinal surgery was associated with a significant increase in serum triglycerides, emphasizing the potential risk of PRIS. These results underscore the importance of perioperative monitoring of lipid profiles in patients receiving high doses of propofol to enable early detection and timely intervention. A notable limitation of our study was the lack of a control group.

PMID:41361566 | DOI:10.1038/s41598-025-31739-y

Sci Rep. 2025 Dec 8;15(1):43290. doi: 10.1038/s41598-025-30984-5.

NO ABSTRACT

PMID:41361563 | DOI:10.1038/s41598-025-30984-5

Sci Rep. 2025 Dec 8. doi: 10.1038/s41598-025-31470-8. Online ahead of print.

ABSTRACT

Traffic congestion, anomalies and incident significantly impact urban transportation efficiency and road safety. Accurate detection and classification of such events are crucial for effective traffic managements, emergency response and infrastructure planning. Traditional approaches based statistical and conventional machine learning models often struggle to generalize across the dynamic and complex traffic patterns which evolves around the time. To address these limitations, we proposed a multi-head + LSTM model in a multistage classification framework. This proposed framework systematically detects anomalies using isolation forest, classifies the congestion into low, medium, high using K-means clustering and determine whether an incident caused an anomaly using a spatial threshold-based approach (1.5 km). the model is trained on 15 days of PeMS traffic data integrated with weather information to enhanced predictive accuracy. Through hierarchical classification the proposed model captures temporal dependencies, integrates contextual weather information and ensures robust anomaly detection, congestion classification and incident identification. Experimental results demonstrates that the multi-Head model significantly outperforms existing methods achieving higher precision, recall, f1-score and ROC-AUC across all classification stages. The results highlight the potential of deep learning-based traffic analysis for intelligent transportation system (ITS) enabling data-driven decision making for urban traffic management.

PMID:41361558 | DOI:10.1038/s41598-025-31470-8

Surg Radiol Anat. 2025 Dec 8;48(1):19. doi: 10.1007/s00276-025-03795-6.

ABSTRACT

PURPOSE: To investigate the association between the anatomical course of the optic nerve within the sphenoid and posterior ethmoid sinuses (Delano classification) and anterior skull base morphology, particularly lateral lamella length and olfactory fossa depth.

METHODS: Paranasal sinus CT scans from 192 patients (384 hemi-sinuses) were retrospectively reviewed. The course of the optic nerve was categorized using the Delano classification (types 1-4). Lateral lamella length and Keros classification were assessed for each case. Statistical comparisons were performed using ANOVA, post-hoc Tukey tests, and Chi-square analysis.

RESULTS: Lateral lamella length significantly differed among the Delano types (p = 0.001). Delano type 3 and type 4 sinuses demonstrated significantly longer lateral lamella compared to type 1 (p = 0.026 and p = 0.016, respectively). Additionally, a significant variation in Keros classification was observed across Delano groups (p = 0.025), with higher Delano types showing increased prevalence of Keros type 3. These findings suggest that optic nerve protrusion is associated with elongation of the lateral lamella and deepening of the olfactory fossa.

CONCLUSION: This is the first study to demonstrate a significant anatomical correlation between Delano classification and anterior skull base morphology. As optic nerve protrusion into the sphenoid sinus increases, adjacent skull base structures-particularly the lateral lamella-become elongated, potentially heightening the risk of iatrogenic injury during endoscopic sinus surgery. Combined use of Keros and Delano classifications in preoperative imaging may enhance surgical risk stratification and improve patient safety.

PMID:41361551 | DOI:10.1007/s00276-025-03795-6

Surg Endosc. 2025 Dec 8. doi: 10.1007/s00464-025-12473-y. Online ahead of print.

ABSTRACT

BACKGROUND: Minimally invasive adrenalectomy (MIA) is mostly performed as lateral transabdominal adrenalectomy (LTA) or posterior retroperitoneoscopic adrenalectomy (PRA). This study aims to compare LTA and PRA in terms of perioperative outcomes.

METHODS: A retrospective cohort study was conducted on 225 patients who underwent MIA from 2013 to 2023. Patients were divided into two groups: LTA (n = 182) and PRA (n = 43). Propensity score matching (PSM) was used for group balancing.

RESULTS: PRA was associated with shorter operative times (p = 0.004), shorter hospital stay (p < 0.001), fewer drainage placements (p < 0.001), shorter time to catheter removal (p = 0.028), shorter time to return to oral diet (p = 0.012), and higher need for postoperative ICU stay (p = 0.001). After PSM, PRA remained associated with shorter hospital stay (p = 0.019) and lower rate of drainage placement (p < 0.001). In multivariate analysis, no factors resulted in association with postoperative complications, while BMI resulted in association with a longer hospital stay (p = 0.016).

CONCLUSION: Both LTA and PRA demonstrated comparable safety profiles. PRA, however, was associated with a shorter hospital stay and reduced drain placement frequency.

PMID:41361517 | DOI:10.1007/s00464-025-12473-y