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Vincent et al. report the effect of MEK inhibitor trametinib in two children with syndromic KRAS-related multiple non-ossifying fibromas (NOFs). This treatment in vitro reduces KRAS pathway hyperactivation and in vivo induces reossification of NOFs, thus representing a promising targeted therapy for severe KRAS-related bone fragility.
Tiniakou et al perform DNA methylation profiling on menstrual blood stem cells from healthy and endometriosis participants to identify epigenetic biomarkers. They find differentially methylated regions that distinguish cases from controls with high accuracy in machine learning models and influence gene expression, supporting biological relevance.
Kusuma, Almansoori, Shanmugam, et al. analyze wastewater samples from Abu Dhabi, UAE, to assess the presence of the pathogenic fungus Candidozyma auris. The study demonstrates that C. auris can be detected in wastewater, including a rare clade (VI) not previously reported in the region, highlighting wastewater surveillance as an effective early warning tool for outbreak prevention.
Novignon et al. quantify unmet need for SARS-CoV-2 testing in urban Ghana, Burkina Faso, and Madagascar. They find that over 90% of people who should be tested are not, with the poorest quintile experiencing the highest unmet need and greatest barriers to testing access.
Canto, Miñana, Cardells et al. assess left ventricular systolic dyssynchrony by cardiac magnetic resonance feature tracking following treatment with ferric carboxymaltose in people with chronic heart failure, iron deficiency, and a left ventricular ejection fraction <50%. A significant short-term improvement is seen.
Conroy et al. examine the feasibility of ex vivo drug screening in 38 bladder cancer patients using 15 anti-cancer therapies. They find that patients can be subtyped based on ex vivo drug responses, helping to identify alternative therapies.
Parkin et al., using metagenomic sequencing, this double-blinded RCT compared gut microbiomes of infants given dechlorinated or chlorinated drinking water for 12 months. Overall composition was similar, but chlorinated water was linked to enriched antibiotic-resistance functions, especially with antibiotic use, suggesting early-life selective pressures.
Fu et al. develop CineMA, a foundation model pre-trained on 15 million cine cardiac MRI images. CineMA performs competitively in segmentation, disease detection, landmark localisation and prognostication across eight independent datasets, offering a versatile alternative to task-specific models.
Grande de França et al. associated different dietary patterns with biological age acceleration estimated by epigenetic clocks and the inflammatory clock. Greater scores in the DASH diet and the“Plant-based” dietary pattern are associated with lower epigenetic age acceleration through reduced body fat, with a partial moderating role of sex and age.
Snyder et al. analyze two population-based birth cohorts to test associations of newborn metabolite concentrations and childhood respiratory outcomes. C4, C10:1, C18:2, and citrulline are associated with early-life wheezing and asthma, with C18:2 specifically associated with increased non-allergic asthma risk.
Gonzállez-Roca, Rius et al. investigate whether donor-derived cell-free DNA (dd-cfDNA) can be a biomarker in the follow up of patients with uterus transplant. The results indicate that dd-cfDNA is significantly increased when a rejection is diagnosed, as well as fragments above 400 base pairs.
He, Gong, et al. investigate how Complement Factor B deficiency promotes lung adenocarcinoma progression using transcriptomics, clinical specimens, and in vivo tumor models. They identify a novel CFB-FOS-IDO axis that enhances tryptophan catabolism and drives immune suppression, reversible by IDO inhibitor treatment.
Huang, Lu et al. develops a triaxial benchmark (TCM-3CEval) to evaluate large language models in Traditional Chinese Medicine (TCM). The findings show that models trained with Chinese cultural and linguistic knowledge outperform others, yet all exhibit critical gaps in specialized TCM subdomains.
Kikuchi, Michikawa, et al. examined the association between sedentary behavior during pregnancy and fetal malpresentation. Women who reported ≥12 hours sedentary time per day had higher odds for fetal malpresentation compared to those reporting >6 hours.
Aalto et al. develop a pan European epidemiological network model to improve forecasting of influenza like illness across countries over a 10 year period. The network model outperforms single country models in forecast accuracy, in identifying the onset of epidemic waves, and in handling missing data.
Okawaki et al. report updated overall survival and quality-of-life results from a randomized phase III trial comparing sequential versus upfront oxaliplatin-based therapy in metastatic colorectal cancer. They show comparable overall survival, with lower early treatment burden and less neuropathy with the sequential strategy.
Splendiani, Besharat, Sabato et al., evaluate circulating extracellular vesicle microRNAs before and during combined therapy in metastatic melanoma. They identify four and two EV-miRNA signatures as markers of primary and acquired resistance, providing key insights for precision oncology.
Lin et al. developed a Variational Autoencoder based deep learning model using daytime ambulatory blood pressure monitoring (ABPM) and activity/posture data to predict nocturnal hypertension. The study found that entropy-reduction preprocessing enhanced model performance, offering an effective supplement to ABPM for screening high-risk individuals intolerant to night monitoring.
Mao et al., evaluate whether combining host immune biomarkers, including adenosine deaminase, interferon gamma, and interleukin six, improves diagnosis of paucibacillary and extrapulmonary tuberculosis. Using these combined biomarkers together increases accuracy and supports both confirmation and screening.
Prendergast et al. integrate global celiac disease gut microbiome datasets across multiple disease stages. They find a consistent loss of butyrate-producing bacteria, changes in mucin-associated bacteria, and increased opportunistic microbes, with these shifts persisting after treatment.