Research advances from the National Institutes of Health (NIH) Intramural Research Program (IRP) often make headlines. Read the news releases that describe our most recent findings:
Saxophonist Joey Berkley was living his dream: he was playing jazz in New York City. But about 20 years ago, he noticed his left hand wasn’t cooperating. It got worse and worse.
“As soon as I picked my horn up and touched — literally just touched my horn — my hands would twist into pretzel shapes,” Berkley recalled in a conversation with Morning Edition host A Martinez.
Berkley was experiencing focal dystonia, a movement disorder marked by involuntary muscle contractions.
He said he “muscled through it” as best he could. But that meant he wasn’t just pressing down on the keys of his sax — he was crushing them. “My fingers would literally be bleeding afterwards,” he said. “I had to quit playing.”
Joey Berkley learned of an experimental procedure at the National Institutes of Health in Bethesda, Maryland, that involved placing an electrode directly into his brain.
NIH study finds lung function remained stable or improved in adults after transplant.
So-called low-intensity blood stem cell transplants, which use milder conditioning agents than standard stem cell transplants, do not appear to damage the lungs and may help improve lung function in some patients with sickle cell disease (SCD), according to a three-year study of adults who underwent the procedure at the National Institutes of Health (NIH).
Damage to lung tissue and worsened lung function is a major complication and leading cause of death in people with sickle cell disease, a debilitating blood disorder. The new study, published today in the Annals of the American Thoracic Society, helps answer whether less intensive types of transplants, which tend to be better tolerated by many adults, by themselves either cause or promote further harm to the lungs.
“By using a low-intensity blood stem cell transplant for sickle cell disease, we may be able to stop the cycle of lung injury and prevent continued damage,” said study lead Parker Ruhl, M.D., an associate research physician and pulmonologist at NIH. “Without the ongoing injury, it’s possible that healing of lung tissue might occur, and this finding should help reassure adults living with sickle cell disease who are considering whether to have a low-intensity stem cell transplant procedure that their lung health will not be compromised by the transplant.”
Approach could have role in preventing malaria in pregnancy
Two National Institutes of Health (NIH)-supported trials of an experimental malaria vaccine in healthy Malian adults found that all three tested regimens were safe. One of the trials enrolled 300 healthy women ages 18 to 38 years who anticipated becoming pregnant soon after immunization. That trial began with drug treatment to remove malaria parasites, followed by three injections spaced over a month of either saline placebo or the investigational vaccine at one of two dosages. Both dosages of the vaccine candidate conferred a significant degree of protection from parasite infection and clinical malaria that was sustained over a span of two years without the need for a booster dose—a first for any malaria vaccine. In an exploratory analysis of women who conceived during the study, the vaccine significantly protected them from malaria in pregnancy. If confirmed through additional clinical trials, the approach modeled in this study could open improved ways to prevent malaria in pregnancy.
Spread by Anopheles mosquitoes, malaria parasites, including those of the species Plasmodium falciparum (Pf), can cause illness in people of any age. However, pregnant women, infants and very young children are especially vulnerable to life-threatening disease. Malarial parasitemia in pregnancy is estimated to cause up to 50,000 maternal deaths and 200,000 stillbirths in Africa each year.
The trials were co-led by investigators from the NIH’s National Institute of Allergy and Infectious Diseases (NIAID) and the University of Sciences, Techniques and Technologies, Bamako (USTTB), Mali. The investigational vaccine used in both trials was PfSPZ Vaccine, a radiation-attenuated vaccine based on Pf sporozoites (a stage of the parasite’s lifecycle), manufactured by Sanaria Inc., Rockville, Maryland. Multiple previous clinical trials of PfSPZ Vaccine have shown it to be safe, including in malaria-endemic countries such as Mali. In results published in 2022, for example, an NIAID-sponsored, placebo-controlled trial of a three-dose regimen of PfSPZ Vaccine in Burkina Faso found that the vaccine had up to 46% efficacy that lasted at least 18 months.
NIH researchers find that large language models rely on concise, textbook-like language to evaluate medical questions
National Institutes of Health (NIH) researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health. These findings, reported in the American Journal of Human Genetics, demonstrate the need to improve these AI tools before they can be applied in health care settings to help make diagnoses and answer patient questions.
The researchers studied a type of AI known as a large language model, which is trained on massive amounts of text-based data. These models have the potential to be very helpful in medicine due to their ability to analyze and respond to questions and their often user-friendly interfaces.
“We may not always think of it this way, but so much of medicine is words-based,” said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research Institute (NHGRI). “For example, electronic health records and the conversations between doctors and patients all consist of words. Large language models have been a huge leap forward for AI, and being able to analyze words in a clinically useful way could be incredibly transformational.”
Researchers at the National Institutes of Health’s (NIH) Clinical Center and the National Heart, Lung and Blood Institute have developed and tested a new imaging method that will allow specific detection of Aspergillus fumigatus fungal infections in a timely manner in the future, without the need for invasive procedures. Delays in diagnosing fungal infections caused by Aspergillus and other fungi can put immunocompromised patients at risk for more serious illnesses or even death.
Due to their presence in the environment, many fungi evolved to use other sources of fuel besides glucose, such as by breaking down complex sugars into simple ones to produce energy. Aspergillus can break down a specific sugar, cellobiose, into two glucose molecules, while most other microbes and human cells cannot. The researchers developed a radioactive version of cellobiose which when injected in the blood, it can be visualized in the body using positron emission tomography (PET) scanners.
In this study, radioactive cellobiose ([18F]-Fluorocellobiose, [18F]-FCB) was injected in mice with fungal infections which were then imaged using a specialized PET scanner for small animals. The mice showed accumulation of radioactivity, while mice with bacterial infections or with noninfectious inflammation did not.
NIH researchers have developed and tested a new imaging method that will allow specific detection of Aspergillus fumigatus fungal infections.
While the overall numbers remain low, the findings spotlight the need to identify and help those at risk
Researchers at the National Institutes of Health (NIH) found that rates of preteen suicide (ages 8-12) have been increasing by approximately 8 percent annually since 2008. These increases were most pronounced among female preteens, American Indian/Alaska Native or Asian/Pacific Islander preteens, and Hispanic preteens. While the overall number of preteen suicides is small compared to teen and adult populations, the researchers say the findings from this analysis underscore the need for age-appropriate and culturally responsive prevention efforts that include suicide risk screening and lethal means safety counseling. The findings also highlight the need to better understand, identify, and help preteens who may be at risk for suicide.
Researchers from the National Institutes of Health (NIH) have discovered the source of dysfunction in the process whereby cells in the eye's retina remove waste.
A report by scientists at NIH and Johns Hopkins University, Baltimore, details how alterations in a factor called AKT2 affects the function of organelles called lysosomes and results in the production of deposits in the retina called drusen, a hallmark sign of dry age-related macular degeneration (AMD). According to the researchers, the findings suggest drusen formation is a downstream effect of AKT2-related lysosome dysfunction and points to a new target for therapeutic intervention.
Lysosomes are like cells' garbage disposals, and they play a crucial role in maintaining the eye's light-sensing retina. Key cells that make up the retinal pigment epithelium (RPE) provide oxygen and nutrients to the retina's energetically active neurons. They also collect and processes the retina’s waste products through lysosomes. Failure in the cells’ ability to process these waste products leads to the formation of drusen. As AMD progresses, drusen increase in number and volume. But despite intensive research, drusen formation is still largely a mystery.
AI model scored well on medical diagnostic quiz, but made mistakes explaining answers
Researchers at the National Institutes of Health (NIH) found that an artificial intelligence (AI) model solved medical quiz questions — designed to test health professionals’ ability to diagnose patients based on clinical images and a brief text summary — with high accuracy. However, physician-graders found the AI model made mistakes when describing images and explaining how its decision-making led to the correct answer. The findings, which shed light on AI’s potential in the clinical setting, were published in npj Digital Medicine. The study was led by researchers from NIH’s National Library of Medicine (NLM) and Weill Cornell Medicine, New York City.
“Integration of AI into health care holds great promise as a tool to help medical professionals diagnose patients faster, allowing them to start treatment sooner,” said NLM Acting Director, Stephen Sherry, Ph.D. “However, as this study shows, AI is not advanced enough yet to replace human experience, which is crucial for accurate diagnosis.”
The AI model and human physicians answered questions from the New England Journal of Medicine (NEJM)’s Image Challenge. The challenge is an online quiz that provides real clinical images and a short text description that includes details about the patient’s symptoms and presentation, then asks users to choose the correct diagnosis from multiple-choice answers.
GPT-4V, an AI model, often made mistakes when describing the medical image and explaining its reasoning behind the diagnosis — even in cases where it made the correct final choice.
NIH-funded study highlights importance of health disparities research
Self-reported sexual and gender minorities (SGM) — individuals who identify as gay, lesbian, bisexual, queer, transgender, non-binary, or gender-diverse — are twice as likely to report active epilepsy compared to non-SGM individuals, based on a National Institutes of Health (NIH) analysis of data from the population-based National Health Information Survey. 'Active epilepsy' means a person has been diagnosed with epilepsy and has had more than one seizure in the past year or are currently taking anti-seizure medication.
This study suggests that epilepsy could be added to the growing number of neurological health disparities experienced by SGM individuals and other minoritized communities. The potential causes of this increase in prevalence are unknown.
The authors note limitations of the study. The survey relies on self-reporting of SGM and epilepsy status, about which some may have been reluctant to report, even when responding anonymously. The survey data analyzed in this study are from 2022, the first year in which questions about current gender identity, sexual orientation, and sex assigned at birth were included.
NIH study highlights need for greater education, training, and policies to increase adoption of evidence-based care for addiction among physicians
A new study has identified the top reasons why some physicians may be reluctant to intervene in addiction. The comprehensive review, pulling 283 studies published on this topic within the last 61 years, showed that “institutional environment” was the reason most frequently reported in these studies. “Institutional environment” refers to factors like lack of support from a physician’s institution or employer; insufficient resources, such as staff and training; challenges in organizational culture; and competing demands. This reason was cited in 81% of the studies reviewed, followed by insufficient skill (74%), lack of cognitive capacity to manage a certain level of care (74%), and inadequate knowledge (72%).
Around 66% of studies cited negative social influences — or beliefs about public and community acceptance of addiction care — while 56% of studies cited fear of harming the patient-physician relationship as deterrents for physicians to intervene in addiction. These may represent the manifestation of stigma associated with substance use disorder, the authors say. Reimbursement concerns for the cost of delivering addiction interventions were also observed.
The study’s findings point to the need for institution-wide changes to improve the adoption of evidence-based substance use disorder treatment practices among physicians. These changes include increasing organizational support, leadership and staff buy-in, and education and training. The study, published in JAMA Network Open, was led and funded by the National Institute on Drug Abuse (NIDA) of the National Institutes of Health.
“People with substance use disorders must be able to access compassionate and evidence-based care at any touchpoint they have with a health care provider,” said Nora D. Volkow, M.D., Director of NIDA. “To make that vision a reality, clinicians across all medical disciplines need greater training, resources, and support in caring for people with addiction, so that they feel prepared to proactively offer prevention, screening, treatment, harm reduction, and other tools that can help save lives.”
NIH-funded study of conduct disorder identifies new brain areas associated with the disorder, offering future directions for research efforts and clinical practice
A neuroimaging study of young people who exhibit a persistent pattern of disruptive, aggressive, and antisocial behavior, known as conduct disorder, has revealed extensive changes in brain structure. The most pronounced difference was a smaller area of the brain’s outer layer, known as the cerebral cortex, which is critical for many aspects of behavior, cognition and emotion. The study, co-authored by researchers at the National Institutes of Health (NIH), is published in The Lancet Psychiatry.
“Conduct disorder has among the highest burden of any mental disorder in youth. However, it remains understudied and undertreated. Understanding brain differences associated with the disorder takes us one step closer to developing more effective approaches to diagnosis and treatment, with the ultimate aim of improving long-term outcomes for children and their families,” said co-author Daniel Pine, M.D., chief of the Section on Development and Affective Neuroscience in NIH’s National Institute of Mental Health. “Critical next steps are to follow children over time to determine if differences in brain structure seen in this study are a cause of conduct disorder or a long-term consequence of living with the disorder.”
A collaborative group of researchers examined standardized MRI data from youth ages 7 to 21 who had participated in 15 studies from around the world. Analyses compared the surface area and thickness of the cerebral cortex and the volume of deeper subcortical brain regions between 1,185 youth diagnosed with conduct disorder and 1,253 youth without the disorder. Additional analyses compared the cortical and subcortical brain measures between boys and girls, age of symptom onset (childhood vs. adolescence), and level of empathy and other prosocial traits (high vs. low).
Brain plots showing regions with significant group differences between youth with and without conduct disorder.
