Nature Genetics, Published online: 29 March 2024; doi:10.1038/s41588-024-01691-0 We have curated a comprehensive single-cell reference map of the human breast. Our data explore how age, parity and germline mutations might influence cellular dynamics, revealing unexpected signs of immune exhaustion in
Mapping single-cell gene expression in the healthy human breast
Oral anticoagulation therapy initiation in patients with atrial fibrillation in relation to world region of origin: a register-based nationwide study
Background Atrial fibrillation (AF) is the most common sustained arrhythmia and results in a high risk of stroke. The number of immigrants is increasing globally, but little is known about potential differences in AF care across migrant populations. Aim To
Global epidemiology of epithelial ovarian cancer
Nature Reviews Clinical Oncology, Published online: 28 March 2024; doi:10.1038/s41571-024-00881-3 Ovarian cancer, accounting for 4.7% of cancer deaths in women in 2020, remains highly prevalent globally. Nonetheless, owing to changes in environmental exposures, the approach to preventive measures and disease
Cervical atresia and an obliterated upper vagina presenting as primary amenorrhea
Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Nature Genetics, Published online: 28 March 2024; doi:10.1038/s41588-024-01684-z Incorporating protein-altering copy number variants ascertained from UK Biobank whole-exome sequencing data into analyses of rare predicted loss-of-function variants identifies complex trait associations not detectable using standard analysis methods.
Genetic variation across and within individuals
Nature Reviews Genetics, Published online: 28 March 2024; doi:10.1038/s41576-024-00709-x In this Review, the authors compare the characteristics and detection methods of germline and somatic variants. Furthermore, they outline how the interplay between the two types of genetic variation can affect
Five decades of advances in cancer research
Over the past 50 years, our understanding of cancer has evolved from its viral origin to a complex systemic disease. Along the way, improved diagnosis and therapeutics saved millions of lives. To mark Cell’s 50th anniversary, this focus issue envisions
[Editorial] Health equity in Ireland: past, present, and future
In less than a decade, Ireland has seen many previously unimaginable developments, including the legalisation of same-sex marriage, the radical overhaul of the country’s archaic abortion law, and the beginnings of implementation of an ambitious plan to create a universally
Racism and misogyny persist in digital health
Two weeks ago, the Guardian reported that in 2019, Frank Hester, chief executive of the Phoenix Partnership, and the conservative party’s biggest donor, said that: “It’s like trying not to be racist but you see Diane Abbott on TV, and
The association between postpartum depressive symptoms and contraception
Postpartum depression affects 10-20% of birthing people and is associated with changes in healthcare utilization. Little is known about the association between postpartum depressive symptoms and choice to use contraception, however both un- or under-treated depression and short interpregnancy intervals
AIRE targets poised promoters enriched for Z-DNA
Nature Reviews Genetics, Published online: 27 March 2024; doi:10.1038/s41576-024-00728-8 A paper in Nature reports a ‘Z-DNA-anchored’ model for the target specificity of the transcription factor AIRE, involving promoter poising at double-strand breaks.
Focus on residual cardiovascular risk: air pollution, infections, socioeconomic status, and lipopoprotein(a)
[Editorial] Ending tuberculosis: ways forward
Around 25 000 people die from tuberculosis every week, despite the disease being curable. Progress in reducing tuberculosis morbidity and mortality is hindered by inadequate access to testing and treatment, with at least 40% of those infected remaining undiagnosed. Our 2022
Prevalence of transthyretin cardiac amyloidosis in patients with high-degree AV block
Objective Transthyretin amyloid cardiomyopathy (ATTR-CM) is an infiltrative cardiac disorder caused by deposition of wild type or mutated transthyretin. As ATTR-CM is associated with conduction disease, we sought to determine its prevalence in patients with idiopathic high-degree atrioventricular (AV) block
Effect of transcranial direct current stimulation on postoperative sleep disturbance in older patients undergoing lower limb major arthroplasty: a prospective, double-blind, pilot, randomised controlled trial
Background Postoperative sleep disturbance (PSD) is a common and serious postoperative complication and is associated with poor postoperative outcomes. Aims This study aimed to investigate the effect of transcranial direct current stimulation (tDCS) on PSD in older patients undergoing lower
Paul Wallace: GP and innovative alcohol researcher
bmj;384/mar27_16/q733/FAF1faPaul Wallace, emeritus David Cohen professor of primary healthcare, University College London (UCL), had a mantra: “GPs are experts in normality.” Unlike many hospital specialists, he explained, GPs were less prone to over-investigate and go down rabbit holes leading nowhere.
Diagnosis of Malignant Pulmonary Nodules Using a Combination of Tumor-associated Autoantibodies and Computed Tomography
Background: Diagnosis of malignant pulmonary nodules can greatly reduce the occurrence of lung cancer death, and computed tomography (CT) is commonly used in diagnosis. In addition, tumor-associated autoantibodies (TAAbs) show high specificity and stability. We aim to establish a computable
[Editorial] Blood deserts: a vision to tackle blood inaccessibility
Blood transfusion is a life-saving intervention for haemorrhage and severe anaemias, and allows safe surgical care and emergency medicine. However, more than half the world’s countries do not have reliable supplies of blood, with an estimated global unmet need of
Audio Highlights
Listen to the JAMA Editor’s Audio Summary for an overview and discussion of the important articles appearing in this week’s issue of JAMA.
Ultra-processed foods and adverse health outcomes: other approaches and evidence needed to prove genuine causal effect
The association between consumption of ultra-processed food and adverse health outcomes seems to be established.1 As with most observational epidemiology, however, the key question is whether this reflects a causal relation. To do this, we need to go beyond ever
Retraction: Relative age effect: beyond the youth phenomenon
Mirvetuximab soravtansine has activity in platinum-sensitive epithelial ovarian cancer
Nature Reviews Clinical Oncology, Published online: 25 March 2024; doi:10.1038/s41571-024-00888-w Mirvetuximab soravtansine has activity in platinum-sensitive epithelial ovarian cancer
[Editorial] Intellectual and developmental disabilities—an under-recognised driver of cancer mortality
Greater attention on the disparities in cancer care for individuals with intellectual or developmental disabilities (IDD) is long overdue. A study published in February, 2024, has shown that individuals with IDD are more likely to die from breast, lung, and
Enduring Safety Concerns for Out-Of-Hospital Births in the United States
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation
Nature Genetics, Published online: 25 March 2024; doi:10.1038/s41588-024-01700-2 The exact relationship between 3D chromatin interactions and enhancer function is unclear. By probing three-dimensional enhancer interactions in developing embryos, two studies now show nuanced dynamics in tissue-specific contexts and reveal how
[Editorial] PrEParing to curb the HIV epidemic in Zambia
This February, Zambia took an important step forward in the fight against HIV and became the first African country to offer cabotegravir long-acting injectable (CAB-LA) for HIV prevention outside of a study setting. The long-expected roll-out of CAB-LA for pre-exposure
Type 1 diabetes: Randox removes adverts after claims that it was using fear to sell genetic test
The diagnostics company Randox Health has removed advertisements for its type 1 diabetes genetic test after receiving complaints that it was using fear and stoking anxiety to push its product.The adverts, displayed in London Underground stations, referred to type 1
Multicancer detection tests: What we know and what we don’t know
CA: A Cancer Journal for Clinicians, EarlyView.
Defining Success After Surgical Treatment of Stress Urinary Incontinence
A consensus standardized definition of success after stress urinary incontinence surgical treatment is lacking, which precludes comparisons between studies and affects patient counseling.
Enhancing diagnostic precision in liver lesion analysis using a deep learning-based system: opportunities and challenges
Nature Reviews Clinical Oncology, Published online: 22 March 2024; doi:10.1038/s41571-024-00887-x A recent study reported the development and validation of the Liver Artificial Intelligence Diagnosis System (LiAIDS), a fully automated system that integrates deep learning for the diagnosis of liver lesions
Cardiovascular protection by normotensive placental extracellular vesicles
New allocation system for foundation training leaves doctors demoralised before they’ve even started work
Earlier this month, I was among the first cohort of medical students to be assigned their foundation training post by the preference informed allocation system, which gives each applicant a random, computer generated ranking.1 Although the UK Foundation Programme Office
Artificial intelligence to improve the diagnosis of pulmonary hypertension: promises and pitfalls
Challenges in the diagnosis of pulmonary hypertension Pulmonary hypertension (PH) is a clinical–physiological syndrome thought to affect 1% of the global population.1 PH is defined haemodynamically by mean pulmonary artery pressure >20 mm Hg, resulting in right ventricular (RV) overload
Role of practice standardization in outcome optimization for CDH
Standardization of care seeks to improve patient outcomes and healthcare delivery by reducing unwanted variations in care as well as promoting the efficient and effective use of healthcare resources. There are many types of standardization, with clinical practice guidelines (CPGs),
IL-13Rα2-targeted CAR T cells show promise in patients with recurrent high-grade gliomas
Nature Reviews Clinical Oncology, Published online: 21 March 2024; doi:10.1038/s41571-024-00885-z IL-13Rα2-targeted CAR T cells show promise in patients with recurrent high-grade gliomas
Preoperative free access to water compared to fasting for planned cesarean under spinal anesthesia: A randomized controlled trial
Contemporary guidance for preoperative feeding allows solids up to six hours and clear fluid up to two hours before anesthesia. Clinical trial evidence to support this approach for cesarean section is lacking. Many medical practitioners continue to follow conservative policies
Single-cell multi-ome regression models identify functional and disease-associated enhancers and enable chromatin potential analysis
Nature Genetics, Published online: 21 March 2024; doi:10.1038/s41588-024-01689-8 Single-cell ATAC + RNA linking (SCARlink) predicts gene expression by jointly modeling local tiled chromatin accessibility using regularized Poisson regression on multi-ome data. SCARlink predictions can be used to identify cell-type-specific enhancers and perform
[Editorial] EU elections: a moment for pan-European health
The past 5 years in Europe have been characterised by crisis. Long-standing Euroscepticism culminated in the UK’s exit of the EU in 2020. Europe was unprepared for the COVID-19 pandemic, which pushed even the best health systems to their limits,
Primary survey: highlights from this issue
Welcome to April 2024’s Primary Survey for the Emergency Medicine Journal. This month’s journal covers a wide variety of topics, from COVID-19 and fever in the Emergency Department (ED) to prehospital care. Pandemic phase-related racial and ethnic disparities in COVID-19
Next generation of free? Points to consider when navigating sponsored genetic testing
Genetics has been integrated into patient care across many subspecialties. However, genetic and genomic testing (GT) remain expensive with disparities in access both within Canada and internationally. It is, therefore, not surprising that sponsored GT has emerged as one alternative.
Senile non-rheumatic mitral valve calcification
This is the chest radiograph of a woman in her late 80s with a history of hypertension, diabetes, heart failure, and atrial fibrillation (fig 1). She had been referred because of fever and worsening dyspnoea. Examination showed bilateral lung crackles,
Time to treat the climate and nature crisis as one indivisible global health emergency
Over 200 health journals call on the United Nations (UN), political leaders and health professionals to recognise that climate change and biodiversity loss are one indivisible crisis and must be tackled together to preserve health and avoid catastrophe. This overall
A new standard of care for advanced-stage urothelial carcinoma
Nature Reviews Clinical Oncology, Published online: 20 March 2024; doi:10.1038/s41571-024-00884-0 A new standard of care for advanced-stage urothelial carcinoma
Transcatheter arterial embolization outperforms surgery in reducing blood transfusions for postpartum vulvovaginal hematoma
Postpartum vulvovaginal hematoma is a complication of vaginal delivery that may progress to life-threatening conditions. However, the management of hematomas, including conservative therapy, surgery, and arterial embolization, is yet to be standardized.
Increased enhancer–promoter interactions during developmental enhancer activation in mammals
Nature Genetics, Published online: 20 March 2024; doi:10.1038/s41588-024-01681-2 A catalog of enhancer–promoter (E–P) interactions across ten mouse embryonic tissues, supported by in vivo functional experiments, shows that E–P proximity increases upon enhancer activation during development.
Global genomic diversity for All of Us
Nature Reviews Genetics, Published online: 20 March 2024; doi:10.1038/s41576-024-00727-9 A publication in Nature reports the data release of around 245,000 clinical-grade whole-genome sequences as part of the NIH’s All of Us Research Programme. Several companion papers highlight the value of
Comparison of troponin and natriuretic peptides in Takotsubo syndrome and acute coronary syndrome: a meta-analysis
Objective Takotsubo syndrome (TTS) is an acute heart failure syndrome which resembles acute coronary syndrome (ACS) at presentation. Differentiation requires coronary angiography, but where this does not occur immediately, cardiac biomarkers may provide additional utility. We performed a meta-analysis to
A sympathetic brake on gut GLP-1 release
The brain-gut neurocircuitry is proving to be finely involved in a wide range of physiological functions. In this issue of Neuron, Ren et al. show that adrenergic signaling suppresses postprandial glucagon-like peptide 1 (GLP-1) secretion. This, in turn, raises circulating glucose
[Editorial] Writing and reviewing for us in AI times
The launch of ChatGPT in November 2022 caused a lot of excitement, but also trepidation, about the potential use or abuse of the tool, including in scientific and medical publishing. Would this artificial intelligence (AI) tool, and/or other applications based
Ivor Browne: “visionary and radical” psychiatrist
bmj;384/mar20_15/q702/FAF1faIvor Browne, professor emeritus of psychiatry at University College Dublin, was best known for his theory that trauma is at the root of many psychiatric diagnoses. He transformed the public perception of mental illness in Ireland and oversaw the move
Potential of artificial intelligence in injury prevention research and practice
Over the past decade, and especially in recent years, AI has permeated news, politics and many aspects of everyday life (eg, chatbots, virtual assistants, social media, smart devices). Biomedical and public health researchers and practitioners are also finding uses for
Medical ethics, equity and social justice
As John McMillan notes in January’s editorial,1 many countries are reflecting on how they responded to the COVID-19 pandemic, what went wrong and how responses to such system shocks can be better managed in the future. However, while it is
Gene of the month: DDIT3
DNA damage-inducible transcript 3 (DDIT3) gene, mapped to the human chromosome 12q13.3, encodes a protein that belongs to the CCAAT/enhancer-binding protein family of transcription factors. DDIT3 is involved in the proliferative control that responds to endoplasmic reticulum stress in normal
At a glance
Characterisation of ectasia after penetrating keratoplasty in keratoconus eyes using anterior-segment optical coherence tomography (see page 506) Optical coherence tomography can be used to image corneal ectasia which occurs late following penetrating keratoplasty. Corneas with late post-keratoplasty ectasia have a
Claudin 18.2 as a novel therapeutic target
Nature Reviews Clinical Oncology, Published online: 19 March 2024; doi:10.1038/s41571-024-00874-2 The development and successful phase III testing of the anti-claudin 18.2 antibody zolbetuximab has provided a novel targeted therapy for the 30–40% of patients with strongly claudin 18.2-positive gastric cancers.
The evolution of modifier genes
Nature Reviews Genetics, Published online: 19 March 2024; doi:10.1038/s41576-024-00724-y In this Journal Club, Yoav Ram recalls how he reconciled results from his own research with the reduction principle through the help of a paper published in PNAS by Altenberg et
[Editorial] Undiagnosed type 2 diabetes: an invisible risk factor
There are diseases that puzzle doctors. Patients with these diseases often remain undiagnosed for years and some will die without an accurate diagnosis. The diagnosis of patients with mysterious diseases, many of which are rare diseases, can entail a long,
Postmarketing Vaccine Safety Assessments
After the initial randomized clinical trials and emergency use authorization of the COVID-19 vaccines by the US Food and Drug Administration (FDA) during the COVID-19 pandemic, the US Centers for Disease Control and Prevention (CDC) and the FDA undertook extensive
Physician associates in the UK: some fundamental questions that need answers now
Healthcare in the UK is facing a crisis. At issue is the creation of new groups of health workers called physician associates (PAs) and anaesthetic associates (AAs).1 Originally PAs and AAs were envisaged as assistants to doctors to increase their
Correction: Amantadine toxicity causing visual hallucinations
Barbara JM, Pace A. Amantadine toxicity causing visual hallucinations. Pract Neurol 2023;23:418-419. doi: 10.1136/pn-2023-003723. Amantadine was incorrectly listed as an N-metyhl-d-aspartate (NMDA) receptor agonist twice in the text. Once in the abstract and once in the second paragraph of the
Atoms
Limits There’s a point, somewhere near the midpoint of Ridley Scott’s Blade Runner where one starts to doubt one’s preconceptions. Morality, mortality, judgement all jostle in the heady mix, the competition becoming more ferocious as the denouement approaches. By this
Fetal fraction in noninvasive prenatal testing and adverse pregnancy outcomes
Dynamics of ER stress-induced gene regulation in plants
Nature Reviews Genetics, Published online: 18 March 2024; doi:10.1038/s41576-024-00710-4 Plants have uniquely adapted to manage endoplasmic reticulum stress triggered by protein misfolding. The authors review the dynamics of gene expression regulation underlying the unfolded protein response in plants, highlighting recent
[Editorial] Increasing awareness of the need for brain health
Neurological disorders are affecting the lives of increasing numbers of people. New data from the Global Burden of Disease, Injuries, and Risk Factors Study (GBD) indicate that, in 2021, 3·4 billion people—more than 40% of the world’s population—had a condition
BMA demands inquiry into use of physician associates on medical rotas
The BMA has urged the government to launch an independent inquiry into hospitals’ use of physician associates (PAs) to replace doctors on medical rotas. The association has asked the health and social care secretary, Victoria Atkins. to examine how widespread
Fetal fraction in noninvasive prenatal testing and adverse pregnancy outcomes: a response
Genome assemblies of 11 bamboo species highlight diversification induced by dynamic subgenome dominance
Nature Genetics, Published online: 15 March 2024; doi:10.1038/s41588-024-01683-0 Chromosome-level genome assemblies of 11 bamboo species comprising lineages from diploid (herbaceous) to tetraploid and hexaploid (woody) provide insights into dynamic subgenome dominance in bamboos.
Role of blood flow restriction strength training in chronic obstructive pulmonary disease
Blood flow restriction (BFR) training is a method partially restricting arterial inflow and fully restricting venous outflow in working musculature during exercise.1 The method uses a pneumatic tourniquet system and involves applying an external pressure, typically using a tourniquet cuff,
Efficacy of colchicine in addition to anakinra in patients with recurrent pericarditis
Aim Anakinra, an anti IL-1 agent targeting IL-1 alfa and beta, is available for the treatment of recurrent pericarditis in cases with corticosteroid dependence and colchicine resistance after failure of conventional therapies. However, it is unclear if the combination with
Targeting cuproplasia and cuproptosis in cancer
Nature Reviews Clinical Oncology, Published online: 14 March 2024; doi:10.1038/s41571-024-00876-0 Copper is an essential trace element with inherent redox properties and fundamental roles in a diverse range of biological processes; therefore, maintaining copper homeostasis is crucial. In this Review, the
Locally advanced mismatch repair‐deficient gastroesophageal junction cancer: Diagnosis, treatment modifications, and monitoring
CA: A Cancer Journal for Clinicians, Volume 74, Issue 2, Page 123-131, March/April 2024.
Systemic Lupus Erythematosus is Associated With an Increased Frequency of Spontaneous Preterm Births: Systematic Review and Meta-analysis
Preterm birth (PTB) is one of the most frequent complications of pregnancies in women with systemic lupus erythematosus (SLE). The high indicated PTB proportion due to hypertensive disorders of pregnancy and/or fetal growth restriction is well known, and preventive measures
Mitral, aortic, and tricuspid valve disease: new light shed on mechanisms, risk stratification, and treatment optimization
For the podcast associated with this article, please visit https://academic.oup.com/eurheartj/pages/Podcasts.
Correction: ICARUS study: prevalence and clinical features of impulse control disorders in Parkinsons disease
Antonini A, Barone P, Bonuccelli U, et al. ICARUS study: prevalence and clinical features of impulse control disorders in Parkinson’s disease J Neurol Neurosurg Psychiatry 2017;88:317–324. doi: 10.1136/jnnp-2016-315277 Since this paper was first published Mirko Avesani and Francesco Palandin have
Diagnostic accuracy of baseline troponin and troponin change for the diagnosis of myocardial infarction complicated with heart failure
Background The diagnosis of myocardial infarction (MI) in the presence of heart failure (HF) presents a clinical problem. While diagnostic algorithms using high-sensitivity cardiac troponin have been established for suspected MI, their accuracy in patients with HF remains uncertain. This
SARS-CoV-2 positivity in offspring and timing of mother-to-child transmission: living systematic review and meta-analysis
AbstractObjectivesTo assess the rates of SARS-CoV-2 positivity in babies born to mothers with SARS-CoV-2 infection, the timing of mother-to-child transmission and perinatal outcomes, and factors associated with SARS-CoV-2 status in offspring.DesignLiving systematic review and meta-analysis.Data sourcesMajor databases between 1 December
Exciting science in all formats
Cell expands its formats to include the Short Article and explains why.
[Editorial] Fitness to lead: the health of US presidents
On March 5, Super Tuesday, 16 states and one territory held primary elections to nominate candidates for the 2024 presidential race. As expected, the results confirmed that President Joe Biden will again compete with former President Donald Trump for the
The promise of AI in personalized breast cancer screening: are we there yet?
Nature Reviews Clinical Oncology, Published online: 12 March 2024; doi:10.1038/s41571-024-00877-z The benefits and potential harms of mammography-based screening for breast cancer are often a matter of debate. Here, I discuss the promises and limitations of a recent study that tested
Genetic contribution to heterogeneity in type 2 diabetes
Nature Genetics, Published online: 13 March 2024; doi:10.1038/s41588-024-01698-7 Genetic contribution to heterogeneity in type 2 diabetes
Innovation in sport medicine and science: a global social network analysis of stakeholder collaboration in rugby union
Objectives To investigate the network of stakeholders involved in rugby union research across the globe. Methods Using author affiliations listed on scientific publications, we identified the organisations that contributed to rugby union research from 1977 to 2022 and examine collaboration
[Editorial] Observation in depression
What you are looking for shapes what you are able to see. In the 1930s and 1940s, Polish philosopher of science Ludwik Fleck argued that the thought styles (Denkstile) of any given thought community (Denkkollectiv) are impossible to isolate from
Colin Walker: early pioneer of neonatal intensive care who developed national database for newborn infants
bmj;384/mar13_13/q635/FAF1faWhen paediatrician Colin Walker began his career, the care of frail newborns consisted of little more than keeping them warm and offering fluids. Walker, who has died aged 100, was instrumental in a huge sea change in neonatal care. He
The global arena of sports medicine!
The discourse surrounding equity, diversity and inclusion is gaining significant traction across various domains, and the world of sports medicine is no exception. Recognising the profound impact of societal structures, cultural norms, systemic and unconscious biases is imperative for all
Maternal mortality in the United States: are the high and rising rates due to changes in obstetrical factors, maternal medical conditions, or maternal mortality surveillance?
National Vital Statistics System reports show that maternal mortality rates in the United States have nearly doubled, from 17.4 in 2018 to 32.9 per 100,000 live births in 2021. However, these high and rising rates could reflect issues unrelated to
The price of P2X7R freedom is neuroinflammation
Exploring the mechanisms of microglia activation has revealed insights into the interconnections of the immune system and brain. Huang et al. demonstrate that the complex of sodium/potassium-transporting ATPase subunit alpha (NKAα1) and purinergic P2X7 receptor (P2X7R) maintains the resting state of
Competition between sites of meiotic recombination in snakes
Nature Reviews Genetics, Published online: 12 March 2024; doi:10.1038/s41576-024-00722-0 A study in Science reports that corn snakes use both PRDM9 and promoter-like features to direct meiotic recombination, indicating that these are not mutually exclusive.
[Editorial] Can the 2024 UK election change the child health trajectory?
As the UK gears up for the general election in 2024, a report by the Academy of Medical Sciences, published in February, lays bare the deteriorating health of children and widening inequalities in the country. Progress on infant mortality has
The Public Health Challenge of Δ 8 -THC and Derived Psychoactive Cannabis Products
In this issue of JAMA, a study by Harlow and colleagues found that 11% of US high school seniors (ie, 12th grade) reported using Δ8-tetrahdyrocannabinol (Δ8-THC) in the past 12 months based on a 2023 survey. This study is a
Physician associates: a pause in rollout is needed
A seminal moment beckons in the history of the Royal College of Physicians (RCP). Tomorrow the RCP is due to hold an extraordinary general meeting (EGM)—notably only the third EGM in its 505 year history. The centre of debate? Physician
Unmet need in rheumatology: reports from the Advances in Targeted Therapies meeting, 2023
The Advances in Targeted Therapies meets annually, convening experts in the field of rheumatology to both provide scientific updates and identify existing scientific gaps within the field. To review the major unmet scientific needs in rheumatology. The 23rd annual Advances
Inclusivity in randomised clinical trials: myth or reality?
In this issue of Heart, Castelijns et al aimed to apply the inclusion and exclusion criteria from the Cardiovascular Outcomes for People Using Anticoagulation Strategies, Clopidogrel for High Atherothrombotic Risk and Ischemic Stabilization, Management and Avoidance trials, Prevention of Cardiovascular
Enhancer–promoter interactions become more instructive in the transition from cell-fate specification to tissue differentiation
Nature Genetics, Published online: 11 March 2024; doi:10.1038/s41588-024-01678-x Analysis of enhancer–promoter (E–P) interactions during Drosophila embryogenesis suggests that the relationship between E–P proximity and activity depends on the developmental stage. Increased E–P proximity is associated with activity during differentiation but
Short tandem repeats — how microsatellites became the currency of forensic genetics
Nature Reviews Genetics, Published online: 11 March 2024; doi:10.1038/s41576-024-00721-1 Bruce Budowle and Antti Sajantila reflect on how short tandem repeats (STRs) became the primary markers of forensic genetics, including for developing investigative leads in criminal cases and humanitarian efforts.
Characterization of the generic mutant p53-rescue compounds in a broad range of assays
Dozens of compounds that rescue tumor-associated mutant p53 have been reported. Xiao et al. perform 10 assays to evaluate effectiveness of the mutant p53-rescue compounds side-by-side but do not detect reliable rescue in any assay for the evaluated compounds, except for
Biden vows to protect reproductive rights and lower drug prices in state of the union speech
President Joe Biden vowed to safeguard reproductive rights and restore Roe v Wade as “the law of the land” in his final state of the union speech before the US election.In his speech to members of the House of Representatives
FIRSTMAPPP prospectively charts the efficacy of sunitinib for phaeochromocytoma and paraganglioma
Nature Reviews Clinical Oncology, Published online: 08 March 2024; doi:10.1038/s41571-024-00880-4 FIRSTMAPPP prospectively charts the efficacy of sunitinib for phaeochromocytoma and paraganglioma
Ethnic inequalities among NHS staff in England: workplace experiences during the COVID-19 pandemic
Objectives This study aims to determine how workplace experiences of National Health Service (NHS) staff varied by ethnicity during the COVID-19 pandemic and how these experiences are associated with mental and physical health at the time of the study. Methods
A new technique to preserve the uterus in placenta accreta spectrum: a reply
Validation of 2D flow MRI for helical and vortical flows
Purpose The main objective of this study was to develop two-dimensional (2D) phase contrast (PC) methods to quantify the helicity and vorticity of blood flow in the aortic root. Methods This proof-of-concept study used four-dimensional (4D) flow cardiovascular MR (4D
Thank you to our reviewers
Correction: What should all health professionals know about movement behaviour change? An international Delphi-based consensus statement
Alsop T, Lehman E, Brauer S, et al. What should all health professionals know about movement behaviour change? An international Delphi-based consensus statement. Br J Sports Med 2023;57:1419-27. doi:10.1136/bjsports-2023-106870 In the third line of the results, it reads ‘In total,
Surge in anti-gay laws in Africa imperil progress on HIV/AIDS, experts say
The International AIDS Society (IAS) and UNAIDS have spoken out against legislation passed by Ghana’s parliament last week that would impose prison sentences of up to three years on anyone who identifies as gay, and up to five years on
Challenges in arrhythmias: anticoagulation in asymptomatic atrial fibrillation, stellate ganglion block in electrical storm, and ECG for prediction of sudden death
Improved identification of cancer mutational processes
Nature Genetics, Published online: 07 March 2024; doi:10.1038/s41588-024-01679-w Mutational signatures help to deconvolve the different processes that shape cancer genomes. A new tool now alleviates some of the persistent challenges in the field.
Promises and challenges of organoids: From humanized to human derived
Kastenschmidt et al. present a groundbreaking organoid culture model for follicular lymphoma, which is capable of maintaining stable compositions of B and T cells. This model is utilized in testing bispecific antibodies in effective killing of tumor B cells with the activation
Pregnancies complicated by Bulimia Nervosa are at increased risk of chorioamnionitis, anemia, and preterm birth
[Editorial] Time for a balanced conversation about menopause
For most women, menopause is a natural phase of life that they transition as part of biological ageing. However, as highlighted in a Series of four papers in today’s Lancet—published ahead of International Women’s Day on March 8—commercial companies and
How to model life’s traȷectory from maȷor diagnosis to death
How do we model our lives from the time of a major diagnosis to death? Illness trajectories are one method, and they can help frame a conversation about what life will be like with a progressive illness. The three characteristic
SARS-CoV-2 and the liver: clinical and immunological features in chronic liver disease
Luxenburger H, Thimme R. SARS-CoV-2 and the liver: clinical and immunological features in chronic liver disease. Gut 2023;72:1783-94 The correct legend for figure 4 should be: Effect of booster vaccination on the adaptive immune response in LTR and AIH patients
Non-inferiority of simple versus radical hysterectomy in low-risk cervical cancer
Nature Reviews Clinical Oncology, Published online: 06 March 2024; doi:10.1038/s41571-024-00879-x Non-inferiority of simple versus radical hysterectomy in low-risk cervical cancer
A Randomized Trial of Double Verses Single-Dose Etonogestrel Implant to Overcome the Interaction with Efavirenz-Based Antiretroviral Therapy
Concomitant use of efavirenz-based antiretroviral therapy and a standard-dose etonogestrel contraceptive implant resulted in 82% lower etonogestrel exposure compared to women not receiving antiretroviral therapy. The clinical impact of this reduced exposure is supported by retrospective cohort evaluations which demonstrated
Genetics of chronic respiratory disease
Nature Reviews Genetics, Published online: 06 March 2024; doi:10.1038/s41576-024-00695-0 In this Review, Sayers et al. summarize findings from recent large-scale genetic epidemiology studies on the genetic underpinnings of chronic respiratory diseases. Furthermore, they outline how insights gained from such studies
Correction: Changes in heart failure management and long-term mortality over 10 years: observational study
[Editorial] Resmetirom for NASH: balancing promise and prudence
Drug development for non-alcoholic steatohepatitis (NASH; also known as metabolic dysfunction-associated steatohepatitis, MASH) with fibrosis has been a far from straightforward endeavour. Obeticholic acid, an agonist of the farnesoid X receptor and the first drug to have supportive phase 3
Rebuilding the behavioral inhibition circuit to prevent opioid relapse
Failure in behavioral suppression is a key feature in substance use disorders, potentially leading to compulsive drug seeking and relapse. In this issue of Neuron, Paniccia et al. elucidated a heroin-damaged paraventricular thalamo (PVT)-accumbal circuit and how recovery of PVT function
HIV: WHO reports “worrying” increase in resistance to key antiretroviral treatment
Resistance to the first line HIV antiretroviral drug dolutegravir is growing and exceeding levels seen in clinical trials, the World Health Organization has warned.1Surveys conducted in Malawi, Uganda, and Ukraine found that levels of resistance among those receiving dolutegravir based
Prevalence of prolonged grief disorder and its symptoms among bereaved individuals in China: a systematic review and meta-analysis
Background The prevalence of prolonged grief disorder (PGD) and its symptoms among the bereaved population in China vary considerably. Aims This meta-analysis aims to estimate the prevalence of PGD and its symptoms among bereaved individuals in China. Methods We conducted
Sexual orientation disparities in adverse pregnancy outcomes
Variation in the relationship between fasting glucose and HbA1c: implications for the diagnosis of diabetes in different age and ethnic groups
Introduction Identify non-glycemic factors affecting the relationship between fasting plasma glucose (FPG) and glycated hemoglobin (HbA1c), in order to refine diabetes diagnostic criteria. Research design and methods Relationship between FPG–HbA1c was assessed in 12 531 individuals from 2001 to 2018
Itaconate boosts malaria via induction of PD-L1
The Krebs-cycle-derived metabolite itaconate has been shown to be immunomodulatory, targeting multiple processes in macrophages. Ramalho et al. reveal an additional role for itaconate in malaria.1 Plasmodium Chabaudi induces itaconate in dendritic cells (DCs), leading to programmed death-ligand 1 (PD-L1) induction.
Audio Highlights
Listen to the JAMA Editor’s Audio Summary for an overview and discussion of the important articles appearing in this week’s issue of JAMA.
Decline in child health in the UK is a national scandal
The steep decline in children’s health under the current government’s watch is a national scandal, documented in the Academy of Medical Sciences scathing report.1 Levels of destitution not seen since the earlier 20th century are just the tip of an
Pegargiminaseimproves outcomes in nonepithelioid MPM
Nature Reviews Clinical Oncology, Published online: 04 March 2024; doi:10.1038/s41571-024-00878-y Pegargiminaseimproves outcomes in nonepithelioid MPM
How ancient genes form animal body plans
Nature Reviews Genetics, Published online: 04 March 2024; doi:10.1038/s41576-024-00717-x Hajk-Georg Drost recalls a 2010 publication that used a phylotranscriptomic approach to estimate the age of genes that contribute to the developmental transcriptome across animal species and inspired a subsequent study
Error in Title
The Letter to the Editor titled “Definitional and Methodological Study of Pediatric Post–COVID-19 Condition,” published on January 29, 2024, was corrected to revise the title to “Definitional and Methodological Errors in Pediatric Post–COVID-19 Condition Research Letter.”
The updated WHO air quality guidelines are a big step forward but not a complete solution
Numerous studies have identified fine particulate matter (PM)2.5, a critical component of air pollution, as a risk factor for cardiovascular disease.1 In a notable update in 2021—the first since 2005—the World Health Organization tightened its air quality guidelines for PM2.5.23
Urinary incontinence increases risk of post-partum depression: systematic review and meta-analysis.
Postpartum depression (PPD) is one of the most common complications after childbearing. Urinary incontinence (UI) is a frequent symptom during pregnancy and the postnatal period, often being the first time that women suffer from it. The aims of this systematic
Longitudinal Brain Perfusion and Symptom Presentation Following Pediatric Concussion: A Pediatric Concussion Assessment of Rest and Exertion+MRI (PedCARE+MRI) Substudy
Journal of Neurotrauma, Volume 41, Issue 5-6, Page 552-570, March 2024.
Educational Guidelines on Sexual Orientation, Gender Identity and Expression and Sex Characteristics (SOGIESC) Biases in Medical Education
A commitment to diversity, equity, inclusion, and belonging in medical education requires addressing both explicit and implicit biases based on sexual orientation, gender identity and expression and sex characteristics (SOGIESC) and the intersectionality with other identities. Heterosexism and heteronormative attitudes
Ischaemic heart disease: prevention, management, mechanisms, and new therapeutic targets
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Nature Genetics, Published online: 01 March 2024; doi:10.1038/s41588-023-01651-0 Digenic inheritance of deleterious variants in serine/arginine protein kinase 3 (SRPK3) and titin (TTN) leads to a progressive early onset skeletal muscle myopathy. Zebrafish double mutants exhibit a similar myopathy phenotype accompanied
Changes in cell-cycle rate drive diverging cell fates
Nature Reviews Genetics, Published online: 01 March 2024; doi:10.1038/s41576-024-00714-0 Kate Galloway highlights a paper by Kueh et al., who showed that the cell cycle indirectly influences concentrations of the transcription factor PU.1 to stabilize cell-fate trajectories in mice.
[Editorial] The Pandemic Treaty: shameful and unjust
The Intergovernmental Negotiating Body (INB), which is tasked under WHO with drawing up an international instrument on pandemic prevention, preparedness, and response, will sit for the 9th and final time from March 18–29. In the 2 years since it first
OPTIMA-BP: empOwering PaTients in MAnaging Blood Pressure – protocol for a randomised parallel group study comparing use of Kvatchii web-based patient education portal as an addition to home blood pressure monitoring
Introduction Hypertension is the leading modifiable risk factor for cardiovascular disease and is implicated in half of all strokes and myocardial infarctions. One-third of the adults in Scotland have hypertension yet only a quarter of them have their blood pressure
Antibiotic costs rise 1100% as big pharma exits Nigeria
In Nigeria, the rapidly escalating drug prices are indicative of a deeper issue: fundamentally, it’s about the economy. The situation shows no signs of abating, especially as recent reports in January 2024 indicated inflation has surged to a 27 year
FGFR-targeted therapeutics: clinical activity, mechanisms of resistance and new directions
Nature Reviews Clinical Oncology, Published online: 29 February 2024; doi:10.1038/s41571-024-00869-z FGFR inhibitors are now approved for use in patients with advanced-stage urothelial carcinoma, cholangiocarcinoma and myeloid or lymphoid neoplasms that harbour certain FGFR alterations. Nonetheless, challenges such as tolerability and
Author Correction: Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort
Nature Genetics, Published online: 29 February 2024; doi:10.1038/s41588-024-01693-y Author Correction: Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort
Unveiling the expanding protein universe of life
Nature Reviews Genetics, Published online: 29 February 2024; doi:10.1038/s41576-024-00716-y In this Journal Club, Hajk-Georg Drost highlights a recent study by Pavlopoulos et al. that organizes proteins at tree-of-life scale using massively parallel graph-based clustering.
Five decades of genetics and genomics
Some of the most significant discoveries in the life sciences over the last 50 years stem from genetics and genomics. This field has also seen large-scale collaborative efforts yield fundamental milestones and results, such as the Human Genome Project. Despite