Toggle light / dark theme

Genetic sequencing has aided in the discovery of novel mutations in inborn errors of immunity, but their clinical relevance often remains unclear

In this Research Article, Marcus Altfeld & team identify a TLR8 gene mutation causing immune overactivation and inflammation in two siblings, linking genetic change to immune system dysfunction and disease: Immunology.


14 Hamburg Center for Translational Immunology;

15 German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; and.

16 Institute of Medical Microbiology, Virology and Hygiene, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Insufficient Sleep in Adolescents and the Need for System Changes

💬 Editor’s Note by JAMA Editorial Fellow Randi Bates and JAMA Deputy Editor Tracy Lieu: Adolescents face increasing rates of insufficient sleep, driven by early school start times and digital media use, undermining cognitive and mental health.


Insufficient sleep is one of the most common health risks in adolescents and is associated with worse cognitive performance and academic achievement, as well as depression, other mental health conditions, and physical concerns. The American Academy of Sleep Medicine and American Academy of Pediatrics (AAP) recommend adolescents aged 13 to 18 years sleep for 8 to 10 hours each night.1 Yet, studies have found that adequate sleep eludes most adolescents.2

In this issue of JAMA, Bommersbach and colleagues report worsening trends in insufficient sleep duration among US high school students based on an analysis of the national Youth Risk Behavior Survey.3 Insufficient sleep increased from 68.9% in 2007 to 76.8% in 2023, largely from increases in very short sleep durations of less than or equal to 5 hours per night. This trend was observed in all demographic groups and was generally consistent across subgroups characterized by behavioral risk factors.

These sweeping patterns suggest that structural and environmental factors may be driving increases in insufficient sleep at the population level. Although some studies have focused on changing individual behavior to increase sleep, such interventions may have limitations in adolescents whose self-regulatory and decision-making abilities are still maturing. Additionally, adolescents may lack sufficient agency to overcome school or social system barriers that limit sleep.

Abstract: In the 1960’s, megamitochondria in hepatocytes were identified in injured liver tissue

Here, Wen-Xing Ding find alterations in mitochondrial dynamics and the accumulation of large mitochondria contribute to liver tumor development in mice: https://doi.org/10.1172/JCI194441 # MASH

The EM image shows liver cells with megamitochondria (arrows) from mice lacking liver-specific dynamin-related protein 1 (Dnm1).


1Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, Kansas, USA.

2Department of Pharmaceutical Sciences, Eugene Applebaum College of Pharmacy and Health Sciences and.

3Department of Pharmacology, School of Medicine, Wayne State University, Detroit, Michigan, USA.

Gut bacteria can sense their environment and it’s key to your health

Your gut bacteria are chemical detectives—sniffing out nutrients and even feeding each other to keep your microbiome thriving. Your gut is home to trillions of bacteria that constantly “sense” their surroundings to survive and thrive. New research shows that beneficial gut microbes, especially common Clostridia bacteria, can detect a surprisingly wide range of chemical signals produced during digestion, including byproducts of fats, proteins, sugars, and even DNA. These microbes use specialized sensors to move toward valuable nutrients, with lactate and formate standing out as especially important fuel sources.

The gut microbiome, also called the gut flora, plays a vital role in human health. This enormous and constantly changing community of microorganisms is shaped by countless chemical exchanges, both among the microbes themselves and between microbes and the human body. For these interactions to work, gut bacteria must be able to detect nutrients and chemical signals around them. Despite their importance, scientists still know relatively little about the full range of signals that bacterial receptors can recognize.

A key question remains. Which chemical signals matter most to beneficial gut bacteria?

Enhancement of Patient-Centered Lung Cancer Screening: The MyLungHealth Randomized Clinical Trial

The MyLungHealth randomized trial found that digital tools improved eligibility assessment and CT ordering for LungCancer screening, but gains in scan completion were limited.


Question Does adding a patient-facing, electronic health record (EHR)–integrated tool to a clinician-facing clinical decision support system improve the identification and ordering of lung cancer screening?

Findings In this randomized clinical trial of 31 303 adults aged 50 to 79 years with uncertain or documented eligibility for lung cancer screening, the EHR-integrated tool significantly increased the identification of screening-eligible patients and the ordering of low-dose computed tomography lung cancer screening.

Meaning Combining patient-facing and clinician-facing decision support in primary care may enhance lung cancer screening by improving eligibility identification and computed tomography scan ordering.

Liquid Crystal Monomers Released from LCD Displays Accumulate in Endangered Marine Cetaceans Triggering Health Concerns

Liquid crystal monomers (LCMs), critical substances of liquid crystal displays in consumer electronics, are persistent pollutants, posing potential threats to marine ecosystems. Despite their bioaccumulative potential, their occurrence and possible biological impacts on marine megafauna remain understudied. We investigated LCM occurrence in Indo-Pacific humpback dolphins (Sousa chinensis) and finless porpoises (Neophocaena phocaenoides) collected from the South China Sea (2007–2021) and assessed their toxicity through in vitro assays using established dolphin cell lines. By employing robust source-tracing methodologies, we provide the first evidence that LCMs from household electronics and coastal e-waste accumulate in cetacean tissues, including blubber, muscle, and, critically, brain tissues, demonstrating blood–brain barrier penetration, a previously undocumented phenomenon of LCMs in mammalian wildlife. The temporal trend of LCM burden in porpoise blubber is correlated with shifts in global liquid crystal display production. Transcriptomic profiling revealed LCM-induced DNA damage, cell cycle arrest, and impaired cell division in cetacean cells. These findings suggest that LCMs may pose potential risks to the nervous system and other organs of marine mammals, warranting further investigation into their toxicological effects and possible implications for human health. By bridging critical gaps among everyday electronics, LCM contamination, and marine conservation, this study highlights the need for urgent regulatory actions and improved e-waste governance to mitigate ecological and public health risks.

Study suggests protein made in the liver is a key factor in men’s bone health

New research suggests the liver plays a previously unrecognized role in bone health, but only in males. A McGill University-led study published in Matrix Biology found that a protein made in the liver helps regulate bone growth in male mice, but not in females. The findings may help explain why men with liver disease are more likely to experience bone loss.

The protein, known as plasma fibronectin, is naturally present in blood at higher levels in men than in women, declines when the liver is damaged and builds up in bone to modulate bone formation. This suggests men rely more heavily on the protein to maintain bone strength than do women.

“About 60% of osteoporosis cases in men are secondary to other underlying health conditions,” said senior author Mari Tuulia Kaartinen, Associate Professor in McGill’s Faculty of Dental Medicine and Oral Health Sciences. “Our findings suggest this protein may be one of the biological links connecting liver disease to bone loss.”

Got milk? how T cells shape lactation and beyond

Lactation supports babies’ immune health and reduces the risk of breast cancer for the mother.

TrendsInImmunology.


Lactation is increasingly recognized as an immune-regulated process. Immune cells shape mammary gland development, coordinate tissue remodeling, and aid in milk production with lasting consequences for maternal health. Here, we summarize recent advances on the roles and dynamics of T cells in the mammary gland during lactation and beyond.

Jumping DNA Sequences Drive Early Tumor Growth

New research reveals that LINE-1 retrotransposons don’t just nudge genes, they also trigger massive structural upheavals early in cancer development.

Read about the findings.


Where there’s a bountiful host, there are parasites ready to take advantage of the resources. This holds true even at microscopic levels. Lying within human DNA are repetitive elements called LINE-1 (L1) retrotransposons that promote their own propagation at the cost of the host organism’s health.1 These genetic parasites create copies of themselves that then get inserted at new locations within the genome. Until recently, scientists thought that the activity of L1s mostly resulted in local alterations to genes.

Now, in a new study published in Science, researchers have demonstrated that L1s can trigger dramatic structural changes in DNA, resulting in cancer-causing mutations.2 These findings, which shed light on the intricate relationship between cancer evolution and the genome, could lead to improved diagnostic and therapeutic strategies for different cancers.

“Cancer genomes are more influenced by these jumping fragments of DNA parasites than we previously thought,” said JosĂ© Tubio, a molecular biologist at the University of Santiago de Compostela, in a statement.

Clinically informed AI outperforms foundation models in spinal cord disease prediction

Cervical spondylotic myelopathy (CSM) refers to spinal cord compression from arthritis in the neck and is the leading cause of spinal cord dysfunction in older adults. CSM is a chronic, progressive condition that can cause neck pain, muscle weakness, difficulty walking and other debilitating symptoms. While the diagnosis is sometimes clear, often the diagnosis can take years because symptoms aren’t recognized until the later stages, and by then, treatment options are limited.

A multidisciplinary team of surgeon-scientists, computer scientists and researchers at WashU developed an artificial intelligence (AI)-based approach that could help clinicians screen for and diagnose CSM up to 30 months earlier, opening new opportunities for earlier treatment. The findings are published in npj Digital Medicine.

Salim Yakdan, MD, a postdoctoral research fellow in the Taylor Family Department of Neurosurgery at WashU Medicine, and Ben Warner, a doctoral student in computer science and engineering at the McKelvey School of Engineering, co-first authors on the research, used seven different AI models to analyze large datasets containing electronic health record data of more than 2 million people with and without CSM. The models examined patterns of health-care interactions, such as tests and diagnoses, recorded in electronic health records to spot patients whose medical histories resemble those already diagnosed with CSM, helping to flag individuals who may be at higher risk.

/* */