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Variant Resolution Through RNA Testing and Affected Tissue Analysis in the NeurofibromatosesA Case Series

Abstract. The heart, a vital organ, works without interruption and constantly adjusts to the ever-changing demands on our body. It adapts to physiological and pathological changes, including exercise and emotional state, as well as metabolic, respiratory, and vascular abnormalities. The pumping action of the heart is determined by the health of the myocardium, which undergoes changes with ageing that are both under-investigated and incompletely understood, potentially impacting our approach to pathological conditions. Here, the alterations in cellular, tissue, and gross physiological function of the heart with age are discussed. At the molecular level, non-coding RNAs influence cellular senescence, and extracellular vesicles induce fibrosis through matrix remodelling. Mitochondrial dysfunction and altered fatty acid oxidation reduce cellular energetics, whilst accumulation of reactive oxygen species and steatosis, as well as telomere shortening coupled with reduced autophagy, limit the myocardium’s regenerative capability. Loss of cardiomyocytes, combined with senescence, requires compensatory hypertrophy, inducing myocardial stiffness and altered muscle function. In addition to these direct alterations in myocardial characteristics with ageing, other factors that can affect the myocardium indirectly are addressed, including valve calcification, resulting in regurgitation and/or stenosis; vascular abnormalities, reducing compliance and exacerbating hypertension; fibrosis leading to cardiac arrhythmias; and autonomic dysregulation, reducing cardiac adaptability. Finally, potential modulation of cardiac ageing is discussed whilst also addressing which senescent modifications should be considered as ageing-related physiological changes of the myocardium. A better understanding of myocardial ageing will differentiate physiological changes from early, preventable, and reversible pathological changes, consequently helping to optimize management of individuals with or at risk of myocardial disease by taking into account diverse trajectories of myocardial ageing.

Effect of Tocilizumab on Pro–B-Type Natriuretic Peptide and Infarct Size in Patients With Acute Myocardial Infarction at Risk of Cardiogenic Shock (DOBERMANN-T)

Early IL-6 receptor inhibition with tocilizumab in AMI patients at increased risk of CS safely suppressed systemic inflammation but had an inconclusive effect on NT-proBNP, with a trend toward a favorable effect that did not reach statistical significance. No difference in LV infarct size as assessed with CMR was observed compared with placebo. JACC CRT2026.


The Journal of the American College of Cardiology (JACC) stands as a leading global resource for impactful cardiovascular research, delivering essential peer-reviewed articles and crucial clinical practice guidelines. Gain access to authoritative medical content and vital CME resources designed to advance cardiovascular medicine and improve heart patient outcomes.

β-hydroxybutyrate enhances the metabolic fitness of CAR T cells in cancer

Now online! β-hydroxybutyrate (BHB), the ketone body associated with a ketogenic diet, metabolically reprograms and fuels CAR T cells to achieve proliferation, cytokine production, and superior tumor control. These findings suggest that BHB supplementation may be a practical way to boost adoptive cancer immunotherapy.

Widely Used Procedure Does Not Curb Pancreatitis in Patients With Pancreas Divisum

In patients with unexplained acute recurrent pancreatitis who have pancreas divisum, the widely used procedure endoscopic retrograde cholangiopancreatography (ERCP) with minor papillotomy does not reduce the risk for more episodes of acute pancreatitis or protect against longer-term consequences, a new randomized, sham-controlled study concludes. The findings run contrary to long-held beliefs that have been based mostly on observational data.


Pivotal study shows no clear benefit for the common endoscopic procedure in this patient group. Experts say the new data could help avoid unnecessary cost and risk.

Researchers praise ‘stunning’ results of new prostate cancer treatment

A new drug for advanced prostate cancer has shown promise in early trials experts have said, with the medication shrinking tumours in some patients.

Prostate cancer is the most common cancer among men in many countries, including the US and UK. About 1.5 million men are diagnosed worldwide each year.

The new drug has caused excitement as it is a type of treatment called immunotherapy. This approach uses the body’s own immune system to fight disease, and has already proved beneficial for some cancers. However, experts note it has not yet had the same impact on prostate cancer.

Targeting mitochondrial metabolism with combined metabolic activators

Combined metabolic activators to treat mitochondrial dysfunction.

Mitochondrial dysfunction is a common feature of many human diseases and is emerging as a therapeutic target.

Systems biology and multiomics approaches have revealed that deficits in glutathione and NAD+ metabolism, impaired fatty acid oxidation, and disrupted redox balance are key drivers of disease pathogenesis.

Combined metabolic activators (CMA) were developed to address these metabolic deficits through the complementary actions of serine, Nacetylcysteine, L-carnitine, and NAD+ precursors.

CMA have been shown to lower hepatic fat, reduce systemic inflammation, accelerate recovery from infection, and improve cognitive performance in clinical studies. sciencenewshighlights ScienceMission https://sciencemission.com/Targeting-mitochondrial-metabolism


Mitochondria play a central role in energy metabolism, redox balance, and cellular homeostasis, and their dysfunction has been implicated in the pathogenesis of complex human diseases. Advances in systems biology and omics technologies have elucidated the mechanisms underlying these conditions, including metabolic dysfunction, mitochondrial impairment, inflammation, and redox imbalance. Preclinical and early clinical studies of combined metabolic activators (CMA), a formulation of bioactive metabolites, have demonstrated improvements in mitochondrial function and systemic metabolic profiles across multiple diseases.

‘Superconducting dome’ hints at high-temperature superconductivity in thin nickelate films

Superconductivity is a quantum state of matter characterized by an electrical resistance of zero and the expulsion of magnetic fields at low temperatures below a critical point. Superconductors, materials in which this state occurs, have proved to be highly advantageous for the development of various technologies, including medical imaging devices, particle accelerators and quantum computers.

While superconductivity typically only occurs at extremely low temperatures, recent studies showed that in some materials it can arise at higher temperatures. These unconventional superconducting materials are referred to as high-temperature (high-Tc) superconductors.

Researchers at the National Laboratory of Solid-State Microstructures and Nanjing University recently gathered hints of high-Tc superconductivity in a thin film nickelate, a material that contains nickel and oxygen arranged in a thin layered crystal structure. Their paper, published in Physical Review Letters, maps the evolution of physical states in these materials under different conditions, unveiling a so-called “superconducting dome” in this phase diagram, which is associated with high-Tc superconductivity.

Cheek cells may provide clues to schizophrenia risk

A simple cheek swab could one day provide a quick and noninvasive diagnostic test for schizophrenia. A new study published in Science Advances has identified higher levels of two biological markers in the cheek swabs of patients with schizophrenia compared with people who don’t have this mental health disorder. Schizophrenia is a long-term condition with a range of symptoms including hallucinations, delusions, muddled thoughts and loss of interest in everyday activities.

There is no single test for the illness, and diagnosis can be challenging because symptoms vary widely between people and typically relies on observing a patient’s behavior. It can, therefore, sometimes take months for a professional to make a diagnosis with any degree of certainty, as they have to rule out other possible causes. That is a lot of time for someone to wait without the right treatment if it is needed.

So researchers led by a team at Rutgers University in New Jersey decided to investigate whether molecular signatures in easy-to-collect buccal (cheek) cells could serve as reliable biomarkers.

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