Search

In the proof-of-concept phase 2 ROME trial, comprehensive genomic profiling followed by molecular tumor board evaluation and randomization of patients with metastatic solid cancer to receive personalized therapy or standard of care led to a significantly higher objective response rate and longer progression-free survival in patients who received personalized therapy.

Ataluren restored SBDS protein synthesis in three patients with Shwachman-Diamond syndrome, improving bone marrow cellularity and pancreatic function without side effects, highlighting its potential as therapeutic option for this genetic disease.

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, along with 38 candidate genes, providing evidence for shared genetics with other developmental disorders.

Tumor-associated macrophages are pivotal in control over solid tumors. Here the authors show that these macrophages express chemosensors that detect lipid variants in the tumor microenvironment that can regulate the function of these cells.

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

This Review provides an overview of the main applications of single-port robotic surgery in urology, presenting emerging outcomes and discussing the transformative potential of this approach.

Short laser pulses of femtosecond time scales are in high demand in order to explore the fast electron dynamics in light-matter interactions. Here, the authors demonstrated the compression of free electron laser pulses in the extreme ultraviolet range by using a chirped pulse amplification technique.

Along with a back-to-back published paper from Zielisnki and co. in this issue of Nature Immunology, this paper shows that NaCl affects CD8⁺ T cell function by counteracting the exhaustion of these cells in the tumor microenvironment.

Proton conductor oxides are promising materials for their use as electrolytes for reducing the operation temperature of solid-oxide fuel cells. Epitaxially oriented yttrium-doped barium zirconate films now show unprecedented proton conductivity in the 500–700 °C range.

Despite evidence for an ice-rich outer shell, little water ice has been observed on the surface of Ceres. Lobate morphologies observed on Ceres that are increasingly prevalent towards the dwarf planet’s poles are consistent with ice-rich flows.

The homeostasis and function of adipose tissue are tightly regulated by immune cells, with macrophages playing a pivotal role. Here the authors show that PpargHIGH macrophages positively enhance brown adipose tissue thermogenesis through GDF15.

Over half the world’s rivers dry periodically, yet little is known about the biological communities in dry riverbeds. This study examines biodiversity across 84 non-perennial rivers in 19 countries using DNA metabarcoding. It finds that nutrient availability, climate and biotic interactions influence the biodiversity of these dry environments.

Stojanov et al. updated and internally validated a prediction model for the occurrence of post-operative shoulder stiffness following primary arthroscopic rotator cuff repair in Switzerland. Their findings support the development of further prediction models for an evidence-based and individualized decision-making in orthopedics.

A base-editing approach optimized to target the retina shows high editing rates in a mouse model of Stargardt disease, as well as in nonhuman primates and ex vivo human retinal explants, paving the way for potential clinical applications.

A genome-wide study by the Long COVID Host Genetics Initiative identifies an association between the FOXP4 locus and long COVID, implicating altered lung function in its pathophysiology.

Generation of intense attosecond waveforms with independently controllable amplitude and phase is performed by using a seeded free-electron laser.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

This study presents a method to create nanoscale polarization transient gratings in the EUV range. Unlike intensity gratings, it reduces thermal effects, revealing hidden material dynamics. This enables new insights in chiral materials and ultrafast magnetism.

Dravet syndrome is a devastating epileptic encephalopathy caused by Scn1a gene haploinsufficiency. Exploiting a novel knock-in mouse model, here the authors show that restoring Scn1a expression after symptom onset is sufficient to rescue main phenotypic manifestations of the syndrome.

Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1.

By amplifying a soliton in a multistage cascade, few-femtosecond extreme-ultraviolet free-electron laser pulses are achieved.

Light pulses with controllable parameters are desired for studying the fundamental properties of matter. Here the authors generate and use phase-manipulated and highly time-stable XUV pulse pairs to probe the coherent evolution and dephasing of XUV electronic coherences in helium and argon.

Echo-enabled harmonic generation in a free-electron laser enables 45th harmonic pulses from a 264 nm wavelength seed, yielding 5.9 nm wavelength coherent output.

Montesi, Costagli et al. use Machine Learning algorithms to develop a consensus based approach to dissect hybrid and vaccine-induced immunity following a third dose of mRNA SARS-CoV-2 vaccine. This method can be a valuable tool for estimating the true prevalence of infection, improving comprehension of immune responses elicited by vaccination alone or combined with infection, and tailoring public health interventions.

Fault systems can exhibit complex patterns of seismicity including changes to dissipate stress more rapidly when they approach dynamic transitions, according to simulated earthquake catalogues generated using a physics-informed stochastic model

The death of oligodendrocytes has been hypothesized to trigger the anti-myelin immunity observed in multiple sclerosis. In a mouse model, the authors show that diffuse oligodendrocyte death alone or in conjunction with immune activation does not initiate any anti-CNS immunity.

Dark-field momentum microscopy makes it possible to spatio-temporally and spatio-spectrally resolve the dark-exciton dynamics in a twisted transition metal dichalcogenide heterostructure.

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Dark chocolate may offer its consumers health benefits the milk variety cannot match.

The role of epigenetic deregulation in colorectal cancer (CRC) is not fully understood yet. Here the authors use patient-derived organoids, epigenomics and single-cell RNA-seq to reveal that YAP/TAZ are key regulators that bind to active enhancers in CRC and promote tumour survival.

Super-resolution microscopy techniques can be challenging for live cells and thick samples. Here, the authors propose a method to reduce beam intensity and remove out-of-focus fluorescence background in image-scanning microscopy (ISM) and its combination with stimulated emission depletion (STED).

Caloric restriction (CR) has been demonstrated to have a role in tumour growth and therapy response but its effects on cancer stem cells are less known. Here, in Acute Promyelocytic Leukemia, the authors show that despite initial anti-tumour effect, CR drives the selection of leukaemia-initiating cells resulting in relapse which could be prevented by ablation of LSD1.

Response to immune checkpoint inhibitors (ICIs) in patients with non-small cell lung cancer (NSCLC) remains suboptimal, even for tumors with elevated tumor mutational burden. Here the authors generate a model of NSCLC with enhanced mutational load, showing that, while still resistant to ICIs, hypermutated tumors become sensitive to dendritic cell-targeted therapy.

Monoclonal antibodies (mAbs) are a potential therapeutic option for treatment of COVID-19. Here, the authors report safety and pharmacokinetics of an intramuscularly injected mAb (MAD0004J08) during the first 30 days of a phase 1 clinical study.

Lack of respiratory complex I is a hallmark of oncocytomas. Here the authors show that inactivation of this complex via knockout of the NDUFS3 subunit or using metformin, converts tumors from an aggressive phenotype into low-proliferative oncocytomas, which can be further inhibited by targeting pro-tumorigenic macrophages.

Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by CRISPR based editing.

Low numbers of circulating CD3⁺CD56⁺ regulatory T cells are associated with reduced beta-cell function and diabetic ketoacidosis in three separate cohorts of children with type 1 diabetes.

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology.

Fine-scale geospatial mapping of overweight and wasting (two components of the double burden of malnutrition) in 105 LMICs shows that overweight has increased from 5.2% in 2000 to 6.0% in children under 5 in 2017. Although overall wasting decreased over the same period, most countries are not on track to meet the World Health Organization’s Global Nutrition Target of <5% in over half of LMICs by 2025.

This is an issue edsumm for ng1939. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.