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PubMed2026

Efficacy and safety of Vertebral Body Sliding Osteotomy (VBSO) versus Anterior Cervical Corpectomy and Fusion (ACCF): A systematic review and meta-analysis.

Anterior cervical corpectomy and fusion (ACCF) is an established treatment for complex cervical myelopathy and ossification of the posterior longitudinal ligament (OPLL), yet it carries risks of dural injury and graft-related failure. Vertebral body sliding osteotomy (VBSO) is a novel technique that avoids direct OPLL manipulation by translating the vertebral body anteriorly to enlarge the spinal canal. Although early studies suggest VBSO may reduce complications, evidence remains limited to retrospective cohorts from the technique's developers, with no high-level synthesis directly comparing it to ACCF. We therefore conducted this meta-analysis to compare clinical outcomes, complications, and radiographic parameters between VBSO and ACCF, while critically evaluating the certainty of the evidence and its generalizability. A systematic search of PubMed, Embase, Scopus, the Cochrane Library, and Web of Science (through June 2025) identified four retrospective cohort studies (449 patients; VBSO n = 209, ACCF n = 240). A critical limitation of the included evidence is that all studies originated from a single institution (Asan Medical Center, Seoul, Korea) with overlapping enrollment periods (2006-2020), increasing the risk of duplicate patient cohorts. Furthermore, the first author (D.-H. Lee) is the same across all included studies, introducing substantial surgeon-expertise bias. Outcomes included neurological recovery, functional outcomes, complications, and radiographic parameters. Certainty of evidence was assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework. Neurological recovery and functional outcomes were comparable between groups. ACCF showed slightly higher postoperative JOA scores (MD -0.59, 95% CI -0.96 to -0.22; p < 0.01), though the clinical relevance is uncertain. VBSO was associated with reduced risks of graft subsidence (RR 0.23; p < 0.01), pseudarthrosis (RR 0.25; p < 0.01), revision surgery (RR 0.17; p < 0.01), and neurological deterioration (RR 0.17; p = 0.02). CSF leakage appeared to be less frequent with VBSO, but the difference was not statistically significant. VBSO was also associated with greater postoperative cervical lordosis and shorter hospital stays. However, these findings must be interpreted with extreme caution: leave-one-out sensitivity analyses revealed that the results for postoperative JOA score, neurological deterioration, and pseudarthrosis were fragile and driven by a single large study, meaning these apparent advantages may not be robust. In addition, GRADE assessment revealed very low certainty across all assessed outcomes. Given the very low certainty of evidence, the preliminary nature of the available data, the fragility of several key findings, and the critical limitations of the underlying studies (single institution, overlapping patient cohorts, developer bias, and systematic imbalance in follow-up duration), the observed differences should be considered hypothesis-generating rather than definitive. VBSO should not be considered a proven superior alternative to ACCF based on the current evidence. Prospective, multicenter, international studies with balanced follow-up durations conducted by independent surgical teams are required before broader adoption can be recommended.

Humans↗

PubMed2026

Integration of single-cell transcriptomics and genomic mutation analysis identifies an immunotherapy-resistant tumor subcluster and validates ARNTL2 as a malignant driver in lung adenocarcinoma.

BACKGROUND: Immunotherapy resistance in lung adenocarcinoma (LUAD) remains a critical clinical challenge, and the mechanisms underlying resistance-associated intratumoral heterogeneity are poorly characterized. METHODS: We performed single-cell RNA sequencing of LUAD patients receiving neoadjuvant immunotherapy (responders vs. non-responders), integrating inferCNV, GSVA, and differential expression analyses. Cluster-specific genes were validated across seven independent cohorts (TCGA-LUAD, GSE13213, GSE26939, GSE29016, GSE30219, GSE31210, GSE42127). A multi-algorithm machine learning framework was used to construct a prognostic model, and the immune microenvironment was characterized using TCIA scoring, seven infiltration algorithms, and ESTIMATE. ARNTL2 function was assessed by CCK-8 and Transwell assays in A549 and H1299 cells. RESULTS: Non-responders showed significant enrichment of epithelial cells, depletion of cytotoxic T/NK cells, and elevated copy number variation burden versus responders (p < 0.0001). A resistance-enriched malignant subcluster (Cluster 2) exhibited hyperproliferative and metabolic reprogramming signatures with upregulated KRT17, S100A2, and CST6, which showed tumor-specific overexpression, adverse prognostic value, and genomic amplification across cohorts. CoxBoost combined with survivalSVM achieved optimal predictive performance (C-index = 0.686), yielding robust risk stratification (HR: 2.54-10.51, all p < 0.05). Low-risk patients showed greater immune infiltration and higher TCIA immunophenoscores. ARNTL2 was an independent prognostic factor (HR: 2.07-4.64) strongly correlated with risk score (r = 0.69), and its knockdown suppressed proliferation and invasion in both LUAD cell lines (all p < 0.05). CONCLUSION: This study identifies a resistance-associated malignant subcluster in LUAD, constructs a validated CoxBoost + survivalSVM prognostic model with robust immune stratification, and establishes ARNTL2 as a core oncogenic driver and therapeutic target.

ARNTL2↗

PubMed2026

Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation.

Evaluating hand and wrist radiographs is essential in pediatric endocrinology and clinical genetics, particularly for the assessment of suspected skeletal anomalies. In this study, we present Auto-Bone-Caliper, an automated system for the segmentation and length measurement of metacarpal and phalangeal (M&P) bones, trained and evaluated on public datasets comprising both normal and dysmorphic cases. We first introduce InstanceSAM, a two-stage framework that detects and segments all 19 M&P bones in pediatric hand radiographs, achieving Dice scores of 98.7% for normal bones and 95.0% for dysmorphic bones. We further develop and evaluate three methods for bone-length estimation, identifying a k-means-based approach as the most accurate, with relative errors of 2.2% for normal bones and 4.5% for dysmorphic bones. Our automated pipeline, Auto-Bone-Caliper, integrates InstanceSAM with the k-means-based length-estimation method. To enable scale-independent downstream analyses, we derive relative bone-length measures from the automated measurements. Using these relative measures, we statistically compare measurements obtained using Auto-Bone-Caliper on an independent dataset with a healthy reference catalog of normal bone morphologies, observing a high level of agreement (Wasserstein-1 distance = 0.012). Finally, we demonstrate a potential clinical use case of Auto-Bone-Caliper by obtaining relative metacarpophalangeal pattern profiles for three genetic conditions, namely Turner syndrome, achondroplasia, and pseudohypoparathyroidism. Our results highlight the potential of the Auto-Bone-Caliper to streamline and standardize M&P length measurement, providing an objective and reproducible tool suitable for clinical application.

Humans↗

PubMed1985

An experimental analysis of chronic posttraumatic stress among adolescents.

The Fear Survey Schedule (FSS), State Trait Anxiety Inventory (STAI), and the Lebanese Fear Inventory (FLI, an endemic index of war fears) were administered to a sample of Lebanese junior high school students 27 days before the Israeli invasion of 1982. Six months after the disengagement of forces, the investigator located 16 subjects who had been in West Beirut throughout the siege and 46 subjects who had evacuated to safer environs. The inventories were readministered to the subjects according to a counterbalanced regimen and no significant differences were noted between the preinvasion scores of the evacuees and nonevacuees or between the postinvasion scores of the evacuees and nonevacuees. No significant differences were observed when the aggregate FSS and STAI estimates that were recorded before and after the invasion were compared. On the other hand, the aggregate LFI scores were significantly lower after the invasion. The results are discussed from within the social learning framework of fear acquisition.

Adolescent↗

PubMed1990

MCMI characteristics of DSM-III-R bulimics.

The literature on bulimia has suggested that bulimic women exhibit a number of pathological personality characteristics. However, the Millon Clinical Multiaxial Inventory (MCMI), an objective measure of personality functioning, has not previously been utilized to assess the personality characteristics of a bulimic population. The MCMI was administered to 37 female bulimics, 32 female general psychiatric outpatients, and 30 normal female controls in order to assess the relationship between bulimia and pathological personality traits. Bulimic women were found to score higher than the other groups on MCMI Scales 1 (Schizoid), 2 (Avoidant), and 3 (Dependent). They also scored lower than the other two groups on Scale 6 (Antisocial). Results are discussed within the framework of parallels between the MCMI profiles of bulimics and the existing literature on bulimics' personality characteristics.

Adolescent↗

PubMedDate not supplied

Differentiation of self and attachment among adult daughters.

The relation among the variables differentiation of self, attachment to mother, and two indicators of mental health were studied in 83 nonclinical adult daughters from a Southern community. An a priori causal model was proposed and tested. Bowen's (1976) theory of differentiation of self and Bowlby's (1969) attachment theory provided the conceptual framework. An operational Daughter Model was tested using the statistical program LISREL. Compared to mothers, daughters scored significantly lower on differentiation of self. Daughter's attachment to mother and daughter's level of self-differentiation were not causally related, supporting the view that differentiation of self and attachment are separate variables in personality development. The daughters' levels of differentiation of self were positively related to positive energy, thus supporting Bowen's theory. These findings affirm the value of attachment behaviors and differentiation of self in adulthood, challenge therapists' bias against attachment behaviors of women, and provide a focus for mental health promotion among women.

Adult↗

PubMed2026

Age-associated epigenomic heterogeneity in papillary tumors of the pineal region: a multicenter YoungNOA investigation.

BACKGROUND: Papillary tumors of the pineal region (PTPR) are rare CNS neoplasms with adult and pediatric presentations, but whether age defines distinct molecular biology is unclear. METHODS: We assembled a multicenter retrospective cohort of 86 histologically confirmed PTPR with genome-wide DNA methylation data, comprising 62 adult and 24 pediatric tumors. Molecular subgroup, array platform, sex, and tumor purity were incorporated into multivariable models. Analyses included DNA methylation class assignment, differential methylation, copy-number variation (CNV), epigenetic mitotic-clock scores, methylation-based tumor microenvironment deconvolution, and descriptive survival evaluation. RESULTS: Adult and pediatric tumors mapped within the established PTPR-A and PTPR-B methylation framework rather than forming age-defined methylation classes. Pediatric tumors were enriched for PTPR-B (22 of 24 tumors [91.7%]) compared with adult tumors (39 of 62 [62.9%]). After adjustment for methylation-based subgroup as well as technical and biological covariates, 2,923 CpG probes were associated with age at a false discovery rate (FDR) threshold below 0.05, and 530 also met the prespecified effect-size threshold. Global methylation summaries were similar between age groups. CNV patterns were dominated by molecular subgroup; adjusted genomic CNV load was not independently associated with pediatric age. In contrast, epiTOC2 intrinsic rate score and the methylation signature represented by the first principal component (PC1) showed age-associated effects independent of molecular subgroup. Methylation-based deconvolution suggested a limited microenvironmental signal, with neutrophil fraction showing the most consistent adjusted association. CONCLUSIONS: Adult and pediatric PTPR share the established PTPR-A/PTPR-B framework. Pediatric tumors, particularly within PTPR-B, showed age-associated DNA methylation differences and higher epigenetic mitotic-clock (epiTOC2) scores in this retrospective cohort. These tissue-level associations do not establish clinical risk or treatment implications and require prospective clinical annotation and orthogonal validation.

Humans↗

PubMed2026

Comprehensive evaluation of ACMG/AMP-based variant classification tools.

MOTIVATION: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines represent the gold standard for clinical variant interpretation. Despite the widespread adoption of ACMG/AMP guidelines, a comprehensive comparison of the software tools designed to implement them has been lacking. This represents a significant gap, as clinicians require evidence-based guidance on which tools to use in their practice. RESULTS: We benchmarked four ACMG/AMP-based tools (Franklin, InterVar, TAPES, Genebe) selected from 22 tools, and compared their performance with LIRICAL, a top-performing phenotype-driven tool, using 151 expert-curated datasets from Mendelian disorders. Selection criteria included free availability, VCF compatibility, operational reliability, and not being disease-specific. Our evaluation framework assessed top-N accuracy (N = 1, 5, 10, 20, 50), retention rates, precision, recall, F1 scores, and area under the curve (AUC). Statistical validation employed bootstrap confidence intervals (n = 1000) and Friedman tests. LIRICAL (68.21%) and Franklin (61.59%) demonstrated superior top-10 variant prioritization accuracy in Mendelian disorders, significantly outperforming other tools (P = .0000). Results demonstrate that tools with advanced phenotypic integration significantly outperform those relying primarily on genomic features. AVAILABILITY AND IMPLEMENTATION: All data and source code required to reproduce the findings of this study are openly available in the Code Ocean repository at https://doi.org/10.24433/CO.6562438.v1.

Software↗

PubMed1989

Reminiscence and strategies of performance in rotary pursuit tracking.

The maximum speed at which man detects and corrects errors is analyzed on the pursuit rotor. During the prerest performance, scores of about 220 msec. are found, for both extravertive and introvertive subjects. During the postrest performance a crossover effect appeared: extraverts had scores near 60 msec., while introverts did not surpass 100 msec. The results are discussed in the framework of Eysenck and Frith's (1977) theory of reminiscence.

Arousal↗

PubMed1989

[Epidemiologic recording of bronchial asthma in the school child].

Bronchial asthma is the most frequent chronic disease in childhood. Nevertheless, no definition of the disease is known that would enable a satisfactory epidemiological recording of asthma. In 704 schoolchildren, typical signs and symptoms of asthma were recorded within the framework of a standardized interview. The occurrence of asthmatic symptoms was quantified by means of a symptom score. In 555 of the probands, bronchial reactivity was tested by means of an inhalative challenge with carbachol. The information gathered from the interview and the carbachol challenge test was placed in relationship to the family doctor's diagnosis of "bronchial asthma". Lifetime prevalence of asthma diagnosed by the family doctors is 4.97% with a clear male predominance. The asthmatic symptoms showed varying frequencies and validity compared with the family doctor's diagnosis. The occurrence of dyspnoea appears to be particularly sensitive (77%). Dyspnoea coincident with exercise is highly specific (99%). The sensitivity of the combination of carbachol test and symptom score is 92% and the specificity is 75%. The instruments described above offer a reliable possibility for epidemiological field research to record the prevalence of bronchial asthma in schoolchildren.

Adolescent↗

PubMed1991

A platform for biological sequence comparison on parallel computers.

We have written two programs for searching biological sequence databases that run on Intel hypercube computers. PSCANLIB compares a single sequence against a sequence library, and PCOMPLIB compares all the entries in one sequence library against a second library. The programs provide a general framework for similarity searching; they include functions for reading in query sequences, search parameters and library entries, and reporting the results of a search. We have isolated the code for the specific function that calculates the similarity score between the query and library sequence; alternative searching algorithms can be implemented by editing two files. We have implemented the rapid FASTA sequence comparison algorithm and the more rigorous Smith-Waterman algorithm within this framework. The PSCANLIB program on a 16 node iPSC/2 80386-based hypercube can compare a 229 amino acid protein sequence with a 3.4 million residue sequence library in approximately 16 s with the FASTA algorithm. Using the Smith-Waterman algorithm, the same search takes 35 min. The PCOMPLIB program can compare a 0.8 million amino acid protein sequence library with itself in 5.3 min with FASTA on a third-generation 32 node Intel iPSC/860 hypercube.

Algorithms↗

PubMed2026

Accelerated long-read variant calling with Clair3 for whole-genome sequencing.

SUMMARY: The rapid growth of genomic data and increasing adoption of long-read sequencing technologies have rendered variant calling one of the most computationally demanding tasks in genomic analysis. Although deep learning-based methods currently outperform conventional approaches in distinguishing true variants from complex sequencing noise, they impose prohibitive computational and time requirements. To address this limitation, we present a computational framework based on Clair3 that integrates parallelized feature generation, enhanced variant phasing, in-memory read haplotagging, and GPU-accelerated neural network inference to accelerate variant calling. By dynamically optimizing the use of both GPU and CPU resources, our method achieves substantial runtime improvements without compromising accuracy. We evaluated our framework across a range of sequencing depths, diverse samples, and multiple hardware configurations. Our results demonstrate that the optimized pipeline completes variant calling for a 30× whole-genome sequence in 12-20 minutes using standard computational resources (32 CPU threads and one NVIDIA GPU), and in 12-15 minutes on an Apple Mac Studio (32 threads), which is ∼10-20-fold speedup compared with its initial release. In addition to exceptional efficiency, our method maintains state-of-the-art accuracy, achieving SNP F1-scores of 99.32% and 99.70% on 30× ONT and PacBio GIAB HG003 datasets, respectively. This work introduces a rapid, accurate, and scalable variant calling framework that effectively supports large-cohort genomic studies and time-sensitive clinical applications. AVAILABILITY AND IMPLEMENTATION: The accelerated implementation of Clair3 is open source and available at: https://github.com/HKU-BAL/Clair3/tree/gpu.

Whole Genome Sequencing↗

PubMed1984

On the lod score method in linkage analysis.

Genetic epidemiology deals with the interaction of environmental and genetic determinants in common diseases. Linkage analysis is an important branch of this field. The current practice of claiming linkage between two genetic loci when the maximum lod score z(theta) exceeds 3 has not received theoretical justification, whether considered as a sequential or as a fixed sample size test. Within the framework of significance testing, Wald's (1947) formulae are not applicable to allow this procedure a sequential interpretation. Considered as a fixed sample size test, we find that a chi 2 approximation would instead be very adequate. Since repeated significance testing is performed on linkage data, the nominal significance level should be more stringent for each test than the overall level. Some recent developments in group sequential trials by Pocock (1977) and in repeated significance testing by Woodroofe (1979) seem to indicate that the critical value of the maximum lod score should lie roughly between 0.9 and 3.3, depending on the maximum number of repetitions anticipated, on whether the significance level is desired to be 0.05, 0.01 or 0.001, and on whether the test is derived from a one-sided or a two-sided consideration. In terms of the group sequential approach, if a maximum of twenty repetitions is allowed, if z(theta) greater than log10 A is considered as a one-sided test and assumed to be symmetric when linkage is absent, then the type I error is approximately given by 1/A. We also treat the confidence interval approach for exclusion of unlikely recombination values.

Genetic Linkage↗

PubMed2026

Nondominant Hand Training in Laparoscopy for Surgical Interns: Feasibility and Impact.

OBJECTIVE: Laparoscopy requires bimanual proficiency, yet early trainees demonstrate underdeveloped nondominant hand (NDH) performance. Although deliberate practice of NDH skill contributes to overall performance, NDH training is rarely incorporated into residency simulation curricula and has not been formally evaluated in surgical trainees. We assessed feasibility and impact of integrating structured NDH training with established laparoscopic curriculum for surgery interns. DESIGN: Prospective, single-institution randomized pilot study. Interns were assigned the standard 4-week curriculum of laparoscopic dominant hand and bimanual tasks (Control) or completed assigned NDH tasks in addition to the standard curriculum (Intervention). Feasibility was determined by assigned task completion, daily standard and NDH-specific self-reported practice time, and improvement in bimanual task performance. Performance was video recorded weekly and assessed by blinded evaluators using MISTELS and GOALS scoring. Cognitive workload during laparoscopic tasks was measured via NASA-TLX. Exploratory analyses were conducted within a Bayesian framework. SETTING: A single academic institution with a surgical simulation training program. PARTICIPANTS: General surgery interns on their 4-week simulation rotation. RESULTS: Eleven general surgery interns (6 intervention, 5 controls; all right-hand dominant) completed the study with 100% task completion and practice log compliance. Both groups improved in bimanual performance and perceived cognitive load. Reduction in cognitive workload during bimanual task performance was greater in the NDH group. Time spent on NDH practice over 4 weeks was associated with improved bimanual performance, independent of time spent on standard curriculum tasks. CONCLUSIONS: Structured NDH training is feasible to implement within an existing curriculum and reduces perceived cognitive workload during bimanual laparoscopic tasks. NDH practice demonstrates a beneficial dose-response relationship with performance, supporting its integration into early laparoscopic training.

Laparoscopy↗

PubMed2026

From complexity to clarity: Building dashboards for hit selection in high throughput screens.

High throughput screening produces large, complex datasets that are difficult to interrogate without programming expertise, making hit selection time-consuming and inflexible. While instrument software and commercial tools offer partial solutions, they often lack adaptability or require costly infrastructure. Interactive dashboards provide an effective alternative by enabling dynamic filtering and integrated visualization within a single interface. Here, we present simple R Markdown-based templates for creating customizable, modular dashboards for screen data analysis. Built using the flexdashboard and crosstalk R packages, and HTML widgets, these lightweight, easy-to-build HTML dashboards require no complex installation process or installation of licensed software. They support linked visualizations, threshold-based filtering (e.g., Z-score, p-value, fold change), and interactive data exploration and are shared as a standalone HTML file. This framework enables rapid, flexible hit selection across diverse high throughput screening applications and is designed for users with basic R experience.

High-Throughput Screening Assays↗

PubMed2026

Recommendations for return of secondary genomic findings in observational cohort studies.

The return of secondary genomic findings (ROSF) to participants in observational cohort studies has evolved from a topic of debate to an accepted standard. This Perspective synthesizes the proceedings of a 2024 National Heart, Lung and Blood Institute-sponsored workshop and the broader literature to provide updated guidance for ROSF. Building on the 2010 National Heart, Lung and Blood Institute Working Group recommendations and the 2014 Clinical Sequencing Exploratory Research/Electronic Medical Records and Genomics 'floor and ceiling' framework, we address four areas: an integrated ethical framework for observational cohort settings; the emerging challenge of returning novel result types beyond monogenic variants, including polygenic risk scores, somatic mosaicism and pharmacogenomic findings; health equity and community engagement as structural prerequisites for ethical ROSF; and scalability challenges, including technology-assisted disclosure. Drawing on implementation experience from large-scale sequencing programs, we offer recommendations that balance researcher obligations with participant autonomy and equitable access to the benefits of genomic research.

Journal Article↗

PubMed2025

SpaceBar enables clone tracing in spatial transcriptomic data.

We report a cellular barcoding strategy, SpaceBar, that enables simultaneous clone tracing and spatial transcriptomics profiling. Our approach uses a library of 96 synthetic barcode sequences that can be robustly detected by imaging based spatial transcriptomics (seqFISH), delivered such that each cell is labeled with a combination of barcodes. We used these barcodes to label melanoma cells in a tumor xenograft model and profiled both clone identity and spatial gene expression in situ. We developed a gene scoring metric that quantifies how strongly gene expression is driven by intrinsic cellular cues or extrinsic environmental signals. Our framework distinguishes between clonal dynamics and environmentally-driven transcriptional regulation in complex tissue contexts.

Journal Article↗

PubMed1979

Attitudes of health workers toward old people.

The Tuckman-Lorge Questionnaire was used to study the attitudes of three groups of health workers toward old people and to test their acceptance of geriatric stereotypes. The health workers tested were medical students, housestaff members, and members of a mobile psychogeriatric screening team. Many significant differences were found between and within the groups tested, as well as between male and female subjects. The female housestaff had extremely high and significantly different scores from all other groups. The geriatric staff adhered least to the stereotypes. The results are discussed in the framework that the attitudes of care givers are directly related to the quality of the care provided. It is hypothesized that female housestaff members have special difficulties with role conflicts that cause them to adhere to stereotypes of the aged. The milieu of geriatric treatment, rather than knowledge of statistics about old people, is the most effective background for positive changes in attitudes toward the elderly.

Aged↗