A novel, multi-analyte test developed by researchers at Johns Hopkins Medicine can accurately identify brain cancers using small samples of cerebrospinal fluid (CSF), offering a promising new tool to guide clinical decision-making.
The findings, supported by funding from the National Institutes of Health, were published in Cancer Discovery and demonstrate that combining multiple biological markers, including tumour-derived DNA and immune cell signatures, is more effective for diagnosing central nervous system cancers than using any one marker alone.
“This study highlights how much more information we can gain when we evaluate several analytes together,” says senior study author Chetan Bettegowda, MD, PhD, Professor and Director of the Department of Neurosurgery at the Johns Hopkins University School of Medicine. “The ability to detect cancers with high specificity and also gain insight into the immune environment of the brain could be an important advance in the care of patients with brain tumours.”
To evaluate the potential of a multi-analyte approach, investigators analysed 206 CSF samples, including samples from patients with high-grade gliomas, medulloblastomas, metastases and central nervous system lymphomas. Their test, called CSF-BAM (cerebrospinal fluid–B/T cell receptor, aneuploidy and mutation), measured chromosomal abnormalities, tumour-specific mutations, and T and B cell receptor sequences. In combination, these markers identified brain cancers with more than 80% sensitivity (ability to detect cancer) and 100% specificity (correctly identified those who were cancer-free) in the validation cohort. The 100% specificity means no false positives were recorded among individuals with noncancerous conditions.
The study also showed that the assay could distinguish between the immune cell populations present in cancer and noncancer cases, offering additional biological context that could be helpful in more-challenging clinical scenarios. Investigators say this ability to categorize T and B cell populations in the CSF provides insights into both disease presence and immune response.
“Many patients with brain lesions face invasive diagnostic procedures to confirm a cancer diagnosis,” says Christopher Douville, MD, assistant professor of oncology and a senior study author. “A tool like this could help us make better-informed decisions about who really needs a biopsy and who doesn’t.”
Researchers say the test could be particularly useful for cases in which conventional imaging or cytology is inconclusive, or in situations when obtaining tissue for diagnosis is risky or not possible. The multi-analyte approach, they say, enables clinicians to better detect cancer and better understand the disease status, supporting a more tailored approach to patient care.
Pretoria, 27 August 2025 – The South African Health Products Regulatory Authority (SAHPRA) has approved a molecular test kit for Mpox , Cobas MPXV, for use on the Cobas 6800/8800 Systems, within nine working days through a collaborative and harmonised review process under the African Medicines Regulatory Harmonisation (AMRH). Rapid and accurate testing is essential for early detection and to enable timely treatment, and effective containment of the virus.
SAHPRA’s Medical Device Unit, utilising both the World Health Organization (WHO) Emergency Use Listing (EUL) report and the African Medicines Regulatory Harmonisation (AMRH) Continental EUL Procedure, has successfully leveraged reliance mechanisms to facilitate the review and approval of Mpox diagnostic tools. This approach has proven instrumental in accelerating access to critical health technologies, particularly in public health emergencies.
The emergency use approval of the Cobas MPXV for use on the Cobas 6800/8800 Systems, developed by Roche Molecular Systems, Inc. and licensed to Roche Diagnostics South Africa (Pty) Ltd, represents a critical advancement in expanding diagnostic capacity amid Mpox outbreaks. Rapid and accurate testing is essential for early detection, timely treatment, and effective containment of the virus.
“As part of our efforts to promote regulatory efficiency and responsiveness, SAHPRA has successfully leveraged reliance mechanisms to facilitate the review and approval of Mpox diagnostic tools. This marks a significant milestone in supporting regional and continental harmonisation of the regulatory processes for medical devices, including In-Vitro Diagnostics (IVDs),” says Dr Boitumelo Semete-Makokotlela, SAHPRA’s Chief Executive Officer.
In a new study, investigators from McLean Hospital (a member of Mass General Brigham), Harvard Medical School, and the National Institute on Drug Abuse Intramural Research Program (NIDA-IRP) discovered that the tendency of people’s arousal to wane over the course of brain scans has been distorting the brain connection maps produced by functional magnetic resonance imaging (fMRI).
The team found that as people’s arousal levels dwindle during an fMRI, such as if they become more relaxed and sleepy, changes in breathing and heart rates alter blood oxygen levels in the brain—which are then falsely detected on the scan as neuronal activity.
“You’re laying down in a snug scanner for quite some time, often with only a low-engagement button press task to attend to or nothing to do at all, as the scanner monotonously hums and vibrates around you,” said first author Cole Korponay, PhD, MPA, a research fellow at the McLean Hospital Imaging Center. “These arousal-dampening conditions create the illusion that people’s brain connection strengths continuously inflate throughout the scan.”
fMRI scans are commonly used to non-invasively map brain connectivity, but the technique relies on changes in brain blood oxygen to indirectly measure neuronal activity. It is therefore vulnerable to “noise” from other processes that can affect blood oxygen – such as changes in breathing and heart rates.
And because breathing and heart rate patterns are closely tied to arousal levels, changes in arousal can introduce significant noise into fMRI data. Problematically, the conditions of an fMRI scan tend to progressively lull people into lower arousal states.
In the present study, the research team identified a specific blood flow signal that seemed to track both the decline in subject arousal levels and the illusory inflation of functional brain connection strengths.
This non-neuronal, physiological noise signal, termed the “systemic low frequency oscillation” (sLFO) signal, grew over time during scanning, in a spatial and temporal pattern that closely followed the pattern of the connection strength increases.
The researchers then demonstrated that a method called RIPTiDe, developed by co-senior author Blaise Frederick, PhD, an associate biophysicist at the McLean Imaging Center, to remove the sLFO signal from fMRI data, was able to eliminate the illusory connection strength increases.
“By adopting this sLFO denoising procedure, future studies can mitigate the distortive effects of arousal changes during brain scans and enhance the validity and reliability of fMRI findings,” said Korponay.
This research was supported by the National Institute on Drug Abuse, the National Institute of Mental Health, and the National Institute on Aging, all part of the National Institutes of Health.
Investigators have developed an artificial intelligence-assisted diagnostic system that can estimate bone mineral density in both the lumbar spine and the femur of the upper leg, based on X-ray images. The advance is described in a study published in the Journal of Orthopaedic Research.
A total of 1454 X-ray images were analysed using the scientists’ system. Performance rates for the lumbar and femur of patients with bone density loss, or osteopenia, were 86.4% and 84.1%, respectively, in terms of sensitivity. The respective specificities were 80.4% and 76.3%. (Sensitivity reflected the ability of the test to correctly identify people with osteopenia, whereas specificity reflected its ability to correctly identify those without osteopenia). The test also had high sensitivity and specificity for categorising patients with and without osteoporosis.
“Bone mineral density measurement is essential for screening and diagnosing osteoporosis, but limited access to diagnostic equipment means that millions of people worldwide may remain undiagnosed,” said corresponding author Toru Moro, MD, PhD, of the University of Tokyo. “This AI system has the potential to transform routine clinical X-rays into a powerful tool for opportunistic screening, enabling earlier, broader, and more efficient detection of osteoporosis.”
Pro check, designed by Loughborough University student Devon Tyso.
A Loughborough University student has developed a new medical device that could transform how prostate health is assessed and monitored.
Devon Tyso, a Product Design and Technology student, has designed ‘PRO check’, an innovative tool designed to replace the traditional digital rectal examination (DRE), which involves a doctor manually assessing the prostate with a finger.
According to Devon, the current approach is heavily reliant on a clinician’s subjective judgement and experience, and many see the method as ‘intrusive’.
“As one in seven men will get prostate cancer, it’s vital to detect abnormalities early and track changes over time,” said Devon, “The current examination method involves a lot of guesswork.
“PRO check provides objective, measurable data and allows prostate health to be visualised – enabling more accurate diagnosis, and improved long-term monitoring.
“Having a device conduct the exam may also feel less invasive, which may encourage more men to get checked, potentially catching issues earlier.”
How the device works
Designed for use by GPs during routine prostate assessments, PRO check allows doctors to evaluate the size and texture of the prostate — two key indicators of potential health issues — in a more objective and consistent way than the traditional digital rectal examination.
The device is a handheld probe, and it is covered with a condom before being inserted into the body. Once in position, the condom inflates to different pressures, pressing against the surface of the prostate, causing it to compress. A laser grid is projected onto the inner surface of the condom so the shape of the underlying prostate can be captured.
Stereoscopic cameras capture images of the laser grid, tracking where the gridlines intersect and how these intersections shift as pressure changes. This information is then fed into mathematical equations to create 3D images — or ‘topographical representations’ — that reveal the prostate’s shape and surface structure under different pressures.
Studying the prostate’s surface details could help clinicians identify areas requiring further investigation. Healthy prostate tissue is typically soft and compressible, so regions that appear stiff or resist pressure could indicate potential abnormalities and warrant further investigation.
The device can also produce data on prostate volume – one of the measurements used to calculate prostate-specific antigen (PSA) density, which helps assess prostate cancer risk. Devon says currently volume estimates are often based on a clinician’s best judgement.
In addition, data from PRO check can be used to generate a compressibility-versus-pressure graph – a novel data type not currently available in clinical practice. This graph shows how the prostate compresses at different pressure levels, which Devon hopes could offer new insights into prostate health and complement existing diagnostic tools.
PRO check is designed to integrate with artificial intelligence, enabling automatic extraction of video data, real-time calculations, and the generation of 3D images for live display on a laptop or tablet during the examination.
The idea is that all examination data from PRO check would be stored on the patient’s records, helping to build a personalised prostate health profile that can be tracked and monitored over time.
Inspiration
Devon’s inspiration for PRO check came from a mix of personal experience – after his grandfather’s prostate cancer diagnosis – and unexpected technical research.
“It really hit home how common prostate issues are after my family member was found to have an enlarged prostate,” said the 22-year-old from Cardiff, “I realised nearly everyone I spoke to about it knew someone affected by it.
“When I started looking into prostate examinations, I kept thinking ‘how can a doctor remember what your prostate felt like four months ago?’ and how horrible it must be just be told whether you’re fine or not without seeing any data or anything visual.”
While researching non-invasive ways to assess tissue structure inside the body, Devon came across a technique used by NASA to map the surface of asteroids — projecting laser grids onto them, capturing images with satellite-mounted cameras, and analysing the gridline intersections to reveal the contours of the surface.
“I saw that NASA were mapping surface heights on a massive scale, and I thought – if they can do that in space, why can’t we use similar principles to examine something here on Earth?” said Devon, “I’ve basically used the exact same technique and scaled it down for PRO check.”
He has built and tested two working prototypes. The first demonstrates how a laser grid and camera can be setup to map the surface of the prostate.
Devon designed a custom rig that enabled him to capture images of a laser grid projected onto different silicone prostate models — representing a healthy gland, a small tumour, a large tumour, and an enlarged prostate — from an optimal angle using a smartphone camera.
PRO check prototype one demonstrated how laser gridlines and a camera can be used to image the surface of the prostate.
The second prototype features electronics that inflate a small balloon at controlled pressures, regulated by a pressure-sensing chip. Devon consulted three healthcare professionals to measure the pressure typically applied during prostate exams and replicated those levels in his design.
Devon tested the prototype using the silicone prostate models but encased them in a sponge disc to simulate surrounding tissue.
Devon manually extracted data on the gridline intersections from the camera footage and applied mathematical equations to generate 3D images of the prostate surfaces and surrounding tissue under different pressures.
Next steps
Devon hopes to collaborate with medical professionals and product developers to turn PRO check into a fully realised medical device.
When speaking about his ultimate goal, Devon said: “I’d love to see this used in GP surgeries across the UK one day.
“With early detection being so critical, anything that helps men get checked sooner and more comfortably – and provides reliable data and visualisations – has huge potential. I really believe this could make a difference.”
A new handheld tuberculosis testing device by Tulane University is the size of a credit card, requires no electricity and significantly improves detection of the disease in those with HIV. (Vincent Postle/Tulane University)
Current tuberculosis infection tests struggle to detect the disease in those with HIV. A common co-infection, HIV can hide TB from traditional tests by eliminating the immune cells relied upon to sound the alarm.
While more than 90% of the 2 billion TB cases worldwide are latent – symptom-free and not contagious – the weakening of the immune system in those with HIV can allow latent TB to turn active, increasing the potential for new infections to spread and often resulting in fatal outcomes. Tuberculosis is the leading cause of death among those with HIV worldwide.
Now, Tulane University researchers have developed a new handheld TB test that significantly improves detection in people with HIV, according to a new study in Nature Biomedical Engineering. Powered by a beetle-inspired chemical reaction, the device requires no electricity and addresses a critical gap in TB infection detection that has long hobbled efforts to eliminate the world’s deadliest infectious disease.
“The goal was to develop a TB test that could be taken anywhere and provide quicker, more accurate results for anybody.”
Tony Hu, PhD
Dubbed the ASTRA (Antigen-Specific T-cell Response Assay), the credit card-sized device requires only a drop of blood to provide same day diagnoses without need for a laboratory or trained staff. When tested against the traditional IGRA blood test (Interferon-Gamma Release Assay), the ASTRA detected TB in HIV-infected individuals with 87% specificity compared to IGRA’s 60%, while also outperforming in detection of TB without HIV co-infection.
“The goal was to develop a TB test that could be taken anywhere and provide quicker, more accurate results for anybody,” said senior author Tony Hu, PhD, Chair in Biotechnology Innovation at Tulane University and director of the Tulane Center for Cellular & Molecular Diagnostics. “Current tests such as the IGRA are cost-prohibitive or require access to facilities that resource-limited communities don’t have. If we are going to eliminate TB, we have to diagnose and treat as many infection cases as possible.”
Added Bo Ning, lead author and assistant professor of biochemistry at Tulane University School of Medicine: “If your community has an immunocompromised population, someone may have latent TB. This can help block the spread of TB and ensure that no one slips through the cracks.”
To create a test that would not be stymied by HIV, the researchers identified two new biomarkers that could detect TB without relying on the immune cells susceptible to the virus.
After adding a drop of blood to the device, it must incubate for 4 hours to allow a preloaded reagent to stimulate a response from the immune cells. The reagent acts as a “wanted poster” asking if they’ve seen tuberculosis bacteria before.
To avoid the use of electricity, the researchers looked to an unlikely source for inspiration: the bombardier beetle. When threatened, these large insects combine two chemicals, and the resulting reaction produces a forceful spray. Similarly, two chemicals in the ASTRA are combined to propel the sample across a chip for final analysis and diagnosis.
The new device delivers results in about 4 hours, compared to the IGRA, which takes 24 hours, and a common TB skin test, which can take between two and three days for a diagnosis.
The ASTRA’s performance was validated using samples collected from a cohort in Eswatini, a country with high TB incidence and the highest reported HIV prevalence (27.3%) worldwide.
Increasing testing accuracy, access and speed is even more vital as TB resistance to drugs grows more robust, Hu said.
“The sooner you have a diagnosis, the sooner you can begin the process of determining proper treatment,” Hu said. “TB is the No. 1 pathogen HIV patients worry about globally. If treatment is available, we should be working to kill these bacteria, latent or not.”
Genetic material shed by tumours can be detected in the bloodstream three years prior to cancer diagnosis, according to a study led by investigators at Johns Hopkins.
The study, partly funded by the National Institutes of Health, was published in Cancer Discovery.
Investigators were surprised they could detect cancer-derived mutations in the blood so much earlier, says lead study author Yuxuan Wang, MD, PhD, an assistant professor of oncology at the Johns Hopkins University School of Medicine. “Three years earlier provides time for intervention. The tumours are likely to be much less advanced and more likely to be curable.”
To determine how early cancers could be detected prior to clinical signs or symptoms, Wang and colleagues assessed plasma samples that were collected for the Atherosclerosis Risk in Communities (ARIC) study, a large National Institutes of Health-funded study to investigate risk factors for heart attack, stroke, heart failure and other cardiovascular diseases. They used highly accurate and sensitive sequencing techniques to analyse blood samples from 26 participants in the ARIC study who were diagnosed with cancer within six months after sample collection, and 26 from similar participants who were not diagnosed with cancer.
At the time of blood sample collection, eight of these 52 participants scored positively on a multicancer early detection (MCED) laboratory test. All eight were diagnosed within four months following blood collection. For six of the eight individuals, investigators also were able to assess additional blood samples collected 3.1–3.5 years prior to diagnosis, and in four of these cases, tumour-derived mutations could also be identified in samples taken at the earlier timepoint.
“This study shows the promise of MCED tests in detecting cancers very early, and sets the benchmark sensitivities required for their success,” says Bert Vogelstein, MD, Clayton Professor of Oncology, co-director of the Ludwig Center at Johns Hopkins and a senior author on the study.
“Detecting cancers years before their clinical diagnosis could help provide management with a more favourable outcome,” adds Nickolas Papadopoulos, PhD, professor of oncology, Ludwig Center investigator and senior author of the study. “Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers.”
Researchers from the University of Tokyo have found a way to observe clotting activity in blood as it happens – without needing invasive procedures. Using a new type of microscope and artificial intelligence (AI), their study shows how platelet clumping can be tracked in patients with coronary artery disease (CAD), opening the door to safer, more personalised treatment.
“Platelets play a crucial role in heart disease, especially in CAD, because they are directly involved in forming blood clots,” explained Dr Kazutoshi Hirose, an assistant professor at the University of Tokyo Hospital and lead author of the study in Nature Communications. “To prevent dangerous clots, patients with CAD are often treated with antiplatelet drugs. However, it’s still challenging to accurately evaluate how well these drugs are working in each individual, which makes monitoring platelet activity an important goal for both doctors and researchers.”
That challenge pushed Hirose and his collaborators to develop a new system for monitoring platelets in motion, using a high-speed optical device and artificial intelligence.
“We used an advanced device called a frequency-division multiplexed (FDM) microscope, which works like a super high-speed camera that takes sharp pictures of blood cells in flow,” said co-author Yuqi Zhou, an assistant professor of chemistry at the University of Tokyo . “Just like traffic cameras capture every car on the road, our microscope captures thousands of images of blood cells in motion every second. We then use artificial intelligence to analyse those images. The AI can tell whether it’s looking at a single platelet (like one car), a clump of platelets (like a traffic jam), or even a white blood cell tagging along (like a police car caught in the jam).”
The research team applied this technique to blood samples from over 200 patients. Their images revealed that patients with acute coronary syndrome had more platelet aggregates than those with chronic symptoms – supporting the idea that this technology can track clotting risk in real time.
“Part of my scientific curiosity comes from the recent advances in high-speed imaging and artificial intelligence, which have opened up new ways to observe and analyse blood cells in motion,” said Keisuke Goda, a professor of chemistry at the University of Tokyo who led the research team. “AI can ‘see’ patterns beyond what the human eye can detect.”
One of the most important findings was that a simple blood drawn from the arm – rather than from the heart’s arteries – provided nearly the same information.
“Typically, if doctors want to understand what’s happening in the arteries, especially the coronary arteries, they need to do invasive procedures, like inserting a catheter through the wrist or groin to collect blood,” said Hirose. “What we found is that just taking a regular blood sample from a vein in the arm can still provide meaningful information about platelet activity in the arteries. That’s exciting because it makes the process much easier, safer and more convenient.”
The long-term hope is that this technology will help doctors better personalise heart disease treatment.
“Just like some people need more or less of a painkiller depending on their body, we found that people respond differently to antiplatelet drugs. In fact, some patients are affected by recurrent thrombosis and others are suffering from recurrences of bleeding events even on the same antiplatelet medications,” said Hirose. “Our technology can help doctors see how each individual’s platelets are behaving in real time. That means treatments could be adjusted to better match each person’s needs.”
“Our study shows that even something as small as a blood cell can tell a big story about your health,” Zhou added.
Dementia usually affects older people, so when it occurs in middle age, it can be hard to recognise. The most common form is frontotemporal dementia (FTD), which is often mistaken for depression, schizophrenia, or Parkinson’s disease before the correct diagnosis is reached.
Now, as part of an NIH-funded study, researchers at UC San Francisco have found some clues about how FTD develops that could lead to new diagnostics and get more patients into clinical trials. The findings appear in Nature Aging on May 16.
The team measured more than 4000 proteins found in spinal tap fluid from 116 FTD patients and compared them to those from 39 of their healthy relatives. All 116 patients had inherited forms of FTD, enabling researchers to study the disease in living people with confirmed diagnosis, something that isn’t possible in non-inherited FTD cases, which can only be confirmed after death.
The composition of the proteins that changed in FTD suggest that these patients have problems with RNA regulation along with defects that affect connections in their brains. These proteins, researchers think, could be the first specific markers for FTD that emerge as the disease develops in middle age.
FTD is the most common form of dementia for people under 60. Because it occurs in younger people, it is often misdiagnosed as depression, early-onset Alzheimer’s, Parkinson’s, or a psychiatric condition. It takes an average of 3.6 years for patients to get an accurate diagnosis. There is no cure, and there are no treatments to slow or stop disease progression. It is distinct from Alzheimer’s in 3 major ways:
FTD features a gradual decline in behavior, language, or movement, but memory is intact.
It usually strikes younger people, between 45 and 65 years of age, and is less likely to strike after 65.
It’s less common, affecting 60 000 people in the U.S. (Alzheimer’s affects 6.7 million Americans).
“FTD affects people in the prime of their lives, stripping them of their independence,” said Rowan Saloner, PhD, professor in the UCSF Memory and Aging Center and corresponding author of the paper. “But there’s no definitive way to diagnose it in living patients, unlike other dementias like Alzheimer’s disease.”
“If we’re able to identify FTD early on, perhaps using some of the proteins we’ve identified, we can direct patients to the right resources, get them into the right therapeutic trials, and, ultimately, we hope, provide them with precision treatments.”
Medical imaging experts are adept at solving common optical illusions, according to research from four UK universities, including the University of East Anglia. The correct analysis of medical images from scans, such as MRI, is critical for diagnosing cancer and many other conditions.
A new study published in Scientific Reports shows that people who do this professionally are also more accurate at judging the size of objects in common optical illusions.
In other words, medical imaging experts also literally see better in everyday life!
The research is also the first to show that people can be trained to do better at solving visual illusions, which was previously thought to be near-impossible.
Senior researcher Dr Martin Doherty, from UEA’s School of Psychology, said: “Optical illusions are designed to fool the brain. They can be a bit of fun, but they also help researchers shed light on how our brains works.
“We wanted to better understand whether people who are very experienced and skilled in visual recognition, do better at solving optical illusions.”
Participants were shown a series of visual illusions that made it hard to correctly judge the size of two similar objects – and asked to identify the larger one.
The object size differences varied, giving the research team an estimate of how much participants’ judgements were affected by the illusions.
They tested 44 radiographers and radiologists and compared their scores with a control group of 107 non-experts.
First author Dr Radoslaw Wincza, from the School of Medicine and Dentistry at University of Central Lancashire, said: “Many illusions are effective even if you know it is an illusion, and until now it was generally believed you could not train yourself to avoid the illusory effects.
“But this research suggests that training aimed at accurately perceiving objects in medical images has the effect of making experts less susceptible to visual illusions.
“This is the first time that it’s been shown that people can be trained to do better at solving visual illusions. And they could perhaps even be used for training medical image analysts in future.
“This is particularly important, given that 60 to 80 per cent of diagnostic errors are perceptual in nature,” he added.
PRO check prototype one demonstrated how laser gridlines and a camera can be used to image the surface of the prostate.
