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In this issue, Hou, Liu and colleagues present interim results from the SHIELD program, showing that a comprehensive intervention package is feasible and effective in reducing mother-to-child transmission of hepatitis B virus (HBV) in various health settings in China. The cover is inspired by the traditional Chinese art of paper cutting and depicts a mother protecting her baby from infection with HBV.
Effective and sustainable interventions to address the global burden of mental disorders in children and adolescents require evidence-based research that fully acknowledges the social, cultural and economic challenges.
Many countries are short of healthcare workers, thousands of whom have quit since the COVID-19 pandemic, but the global migration of doctors and nurses to work in high-income countries is hurting the world’s poorest people.
Advances in organoids and the role of the microbiome and diet are leading to new diagnostics and treatments for endometriosis, motivating a precision health approach to this long-neglected disease.
Policy responses should be based on the known characteristics of an emerging pathogen with pandemic potential and the tools available to tackle it, rather than on specific known pathogens.
The All of Us Research Program has prioritized the enrollment of people from backgrounds that are historically under-represented in medical research to bring precision medicine to the full diversity of the US population and to improve health outcomes for all.
DigiONE is a pilot European learning health system in precision oncology that aims to identify optimal cancer treatments by learning from every patient, not just those in trials, through privacy-preserving interrogation of their standardized routine electronic health records.
Reports of T cell malignancies after CAR-T cell therapy should be investigated, but existing data from follow-up studies suggest a low risk compared with other cancer treatments.
In military veterans with traumatic brain injury, treatment with ibogaine plus magnesium led to dramatic clinical improvements and a favorable safety profile; further studies with state-of-the art safety monitoring will be crucial to unlocking the potential benefits of this psychedelic compound.
Credible evidence suggests that, under extraordinary circumstances, Alzheimer’s disease may be transmitted by a prion-like mechanism — yielding insights into both the basic biology of this neurodegenerative disorder and strategies for early prevention.
Senolytic therapy for diabetic macular edema (DME) refractory to anti-VEGF treatment appears safe, and preliminary data suggest a therapeutic effect on visual acuity and macular thickness.
A pilot trial of the WHO’s Labour Care Guide reveals important considerations for implementation and for future trials aimed at reducing the inappropriate use of cesarean section, particularly in low- and middle-income countries.
An AI-enabled chatbot increased self-referrals to psychological therapies for common mental health disorders; but further research is needed to ensure that better access translates into high-quality treatment experiences and outcomes for everyone.
In a prospective study involving 1,090 high-risk pregnancies, a comprehensive screening test of fetal cell-free DNA successfully detected pathogenic aneuploidies, microdeletions and monogenic variants linked to fetal anomalies. The inclusion of monogenic conditions alongside chromosomal abnormalities in this test resulted in a 60.7% increase in the detection rate for suspected fetal structural abnormalities.
This study seeks to highlight the scientific, regulatory and operational issues around the use of polygenic risk scores in a diverse population. The work presented here provides a framework for laboratories, providers and researchers wishing to advance the field of preventative medicine.
In a large-scale digital experiment on dermatology diagnosis, we found that specialists and generalists achieved diagnostic accuracy of 38% and 19%, respectively. With decision support from a fair deep learning system, the diagnostic accuracy of physicians improved by more than 33%, but the gap in accuracy of generalists widened across skin tones.
We developed and validated a deep learning system (termed DeepDR Plus) in a diverse, multiethnic, multi-country dataset to predict personalized risk and time to progression of diabetic retinopathy. We show that DeepDR Plus can be integrated into the clinical workflow to promote individualized intervention strategies for the management of diabetic retinopathy.
Robust validation of biomarkers of aging will be critical to their clinical translation; here, authors review the key challenges and propose recommendations to overcome them.
Military veterans with traumatic brain injuries who received treatment with the psychoactive compound ibogaine and magnesium experienced improvements in disability, psychiatric symptoms and cognition.
This study identifies a fluid biomarker of TDP-43 dysfunction, a central pathological feature of the ALS–FTD disease spectrum, and demonstrates that such loss of TDP-43 splicing repression occurs presymptomatically.
A small number of patients who received growth hormone preparations contaminated with seeds of the amyloid-beta protein developed Alzheimer’s disease many years after treatment.
A randomized controlled trial found that functional connectivity-guided approaches to intermittent theta burst stimulation and repetitive transcranial magnetic stimulation both reduced depressive symptoms in patients with moderate to severe treatment-resistant depression over 26 weeks.
Simulation of improvements in hypertension care across wealth quintiles in 44 low- and middle-income countries demonstrates that targeted improvements in diagnosis and treatment could considerably reduce within-country, socioeconomic-based inequalites in cardiovascular disease burden.
Following the observation that higher circulating levels of metabolites derived from niacin—an essential micronutrient that is fortified in cereals—are associated with a higher risk for cardiovascular events, genetic and preclinical studies established links among niacin-derived metabolites, soluble vascular adhesion molecule 1 levels and leukocyte adhesion to the vascular endothelium.
In a phase 2 trial involving patients with kidney failure who were undergoing hemodialysis, treatment with osocimab—an antibody targeting coagulation factor XIa—did not lead to increased rates of clinically relevant bleeding or an increased risk of adverse events as compared to placebo, suggesting the possibility that factor XIa inhibitors may be safer in this patient population than currently available anticoagulants.
Small-molecule senolytic compounds targeting BCL-xL were beneficial in a mouse model of diabetic edema and well tolerated when tested in a phase 1 trial involving eight patients with diabetic macular edema.
Interim analysis of the SHIELD program, adopting multilevel interventions, showcases low mother-to-child transmission (MTCT) rates of hepatitis B virus (HBV) across different hospital and community settings in China.
To evaluate the effects of implementing the WHO Labour Care Guide on cesarean section rates, as compared to routine intrapartum care, a pilot trial conducted in India generated preliminary evidence around the effectiveness of the strategy that can inform larger definitive trials.
In a large prospective cohort of 1,090 pregnant women with a high risk of fetal genetic diseases, a cell-free DNA screening identified cases of aneuploidies, microdeletions and monogenic variants with high accuracy in concordance to standard diagnostic tests
A new study from the eMERGE consortium provides insights on the development of a pipeline for the generation and reporting of polygenic risk scores for ten diseases to diverse populations in a clinical setting.
Fifteen years’ follow-up of clinical development and real-world data from 43 patients show that gammaretroviral gene therapy for adenosine deaminase deficiency has a positive long-term efficacy profile, warranting continued safety monitoring of patients receiving gene therapy.
Exploratory ctDNA analyses from the phase 3 INTRIGUE trial indicate that ripretinib may provide benefits in patients with advanced gastrointestinal stromal tumors with KIT exon 11 + 17/18 mutations
Analysis of the pivotal phase 3 ZUMA-7 trial identifies tumor gene expression signatures that are uniquely predictive of anti-CD19 CAR T cell response and event-free survival in second-line treatment for patients with relapsed or refractory large B cell lymphoma.
A neoadjuvant treatment regimen of anti-PD-L1 monotherapy followed by anti-PD-L1 plus chemotherapy was well tolerated and led to a major pathologic response rate of 70% in patients with resectable gastric or gastroesophageal junction adenocarcinoma.
In a phase 1 trial, a lymph node-targeting mutant KRAS peptide vaccine combined with CpG adjuvant is safe, reduces expression of tumor biomarkers and elicits mutant KRAS-specific T cells in patients with pancreatic cancer and colorectal cancer.
Treatment of patients with relapsed or refractory multiple myeloma with a combination of the BCMA-targeting antibody–drug conjugate belatamab mafodotin with dexamethasone and pomlidomide is safe and shows promising preliminary clinical efficacy.
In the phase 2 trial NEOSUMMIT-01, perioperative treatment of patients with locally advanced gastric or gastro-esophageal junction adenocarcinoma with anti-PD-1 and SOX/XELOX versus SOX/XELOX alone improved pathological complete response or near-complete response rate.
In a post hoc multiomics analysis of a trial comparing a plant-based, low-fat diet to an animal-based, ketogenic diet, the diets have differential effects on peripheral immune cell frequencies and immune-related gene expression.
In a large-scale study involving 389 board-certified dermatologists and 459 primary-care physicians from 39 countries, the impact of a deep learning-aided decision support system on physicians’ diagnostic accuracy was tested across 46 skin diseases and for both light and dark skin tones.
A deep learning algorithm shows promising performance in predicting progression to diabetic retinopathy in patients, up to 5 years in advance, potentially providing support for medical treatment decisions and indications for personalized screening frequency in a real-world cohort.
Implementation of a self-referral chatbot for mental healthcare services increased access substantially in a large multicenter study, with a much larger effect on minority individuals.