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Children with severe self-injurious behaviour (SIB) are at risk of permanent injury and lack effective treatment options. Neuromodulation of the nucleus accumbens (NAc), a key node in reward and behavioural regulation circuits, may directly modulate the drivers of SIB. We report long-term outcomes from a first-in-human, single-centre trial of deep brain stimulation (DBS) targeting the NAc in children and adolescents with profound autism and treatment-refractory SIB (NCT03982888). Six...

Machine learning on electronic health records (EHR) is constrained by limited data, strict privacy regulations, and distribution shifts across sites and time. Synthetic data offer a potential solution, but existing tabular generators often struggle in the small sample size in EHR regime. We propose MEDPFN, a distribution-aware synthetic EHR generator built on top of the TabPFN tabular foundation model. MEDPFN uses TabPFN as a learned compatibility score over EHR and adds a Mahalanobis...

Electronic Health Records (EHR) contain abundant structured tabular data, yet developing accurate predictive models on small clinical datasets remains challenging. Foundation models have transformed natural language and imaging tasks by leveraging pretraining on large-scale data, and they are increasingly explored in healthcare as a route toward generalist medical AI. However, this paradigm remains largely unexplored for structured EHR data. In this study, we explore the adaptation of a tabular...

CONCLUSION: These gene-specific DNAm signatures improve variant interpretation and diagnosis, especially for uncertain and atypical cases, underscoring the utility of integrating epigenetic, genetic, and phenotypic data in clinical diagnostics.

Prostate cancer is characterized by profound clinical and molecular heterogeneity. While its genomic heterogeneity is well-characterized, its epigenomic heterogeneity remains less understood. We therefore created a compendium of 3,001 multi-ancestry prostate methylomes spanning normal tissue through localized disease of all grades to poly-metastatic disease. A subset of 884 samples had multi-omic DNA and/or RNA characterization. We identify four epigenomic subtypes that risk-stratify patients...

CONCLUSIONS AND RELEVANCE: The 6 outcome domains identified through a Delphi consensus are recommended for reporting in future facial aging trials to ensure that outcomes that matter most to patients and clinicians are measured and that results are comparable across interventions.

CONCLUSION: The consensus highlights the potential of auditory-perceptual assessment and acoustic metrics to inform screening for swallowing dysfunction in older adults and offers expert insights for clinical investigators who aim to analyze voice, speech, and/or cough sounds as clinically meaningful indicators of laryngeal function to improve early detection and intervention, thereby enhancing patient outcomes.

Plants respond to environmental cues, such as light and temperature, which regulate their growth and development. In the model plant Arabidopsis (Arabidopsis thaliana), PHYTOCHROME-INTERACTING FACTORS (PIFs) are central regulators of both shade-avoidance and thermomorphogenesis. However, their functional roles in crop species are less well known. Here, we generated a tomato (Solanum lycopersicum) mutant lacking all eight known PIF genes (slpifo), to investigate their roles under controlled and...

PTCHD1 is an X-linked three-exon gene associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). Mice lacking Ptchd1 exon 2 (Ptchd1^(Δexon2)) exhibit hyperactivity and learning impairments, but do not recapitulate ASD-like traits. Through mapping of clinically reported loss-of-function mutations in human patients, we determined that PTCHD1 exon 3 is a high-risk locus. We therefore generated an alternative Ptchd1 knockout mouse model by targeting Ptchd1 exon 3...

While COVID-19 mortality was relatively low in many Sub-Saharan African countries during the first wave of the pandemic, SARS-CoV-2 transmission was extensive. We hypothesized that female sex workers (FSWs) would be at enhanced risk of acquisition of this novel respiratory viral infection, due to intimate contact with multiple sexual partners and solicitation of clients in crowded venues. Here we describe the seroincidence, socio-behavioural associations and clinical outcomes of SARS-CoV-2...

BACKGROUNDLiquid biopsy has emerged as a minimally invasive method for tumor diagnosis, monitoring, and therapeutic guidance. For CNS tumors, cerebrospinal fluid (CSF) provides a reliable and accessible source of tumor-derived cell-free DNA (ctDNA).METHODSThis study evaluates the clinical utility of CSF liquid biopsy in a real-world prospective setting. A total of 148 CSF samples from 120 patients underwent molecular analysis using droplet digital PCR (ddPCR) and/or next-generation sequencing to...

CONCLUSIONS: Machine learning models demonstrated moderate predictive performance for in-hospital mortality in post-cardiotomy cardiogenic shock patients on extracorporeal life support. The random forest model demonstrated moderate discriminative performance, highlighting the relevance of readily available clinical variables. External validation and calibration analysis are required before clinical implementation. The model is best interpreted as a tool for dynamic risk assessment during ECMO...

CONCLUSIONS: ECP demonstrated clinical outcomes comparable to IS in sr/sd-irAEs, with significantly lower cumulative corticosteroid exposure and improved QoL. Furthermore, ECP was associated with a favorable safety profile and showed no evidence of compromised antitumor activity. A multicenter trial is planned for further investigation.

CONCLUSIONS: In this registry cohort, higher-volume centers did not have greater fetal aortic valvuloplasty technical success or fewer complications but did have fewer periprocedural fetal deaths. Fetal gestational age and number of cardiac punctures influenced outcomes, suggesting that unmeasured fetal selection criteria, such as different referral patterns, and technical expertise, indicative of overall center/team experience, may influence fetal survival.