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Category: biotech/medical – Page 300

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1

“Despite greater white matter degeneration and reduced cortical thickness, APOE ε4 carriers exhibited preserved deep brain volumes and better self-reported well-being. This study highlights the complex interplay between genetic factors and neurodegenerative processes. Our future research aims to provide more natural history data of EPM1 and correlate long-term phenotypic data with additional geno-phenotypic analyses.”

Read this original article from Epileptic Disorders at doi.org/10.1002/epd2.70112.

Objective Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, even within families. We studied the potential role of APOE ε4 in modifying phenotypic diversity in EPM1, given its established association with neurodegeneration, particularly in Alzheimer’s disease.

B cells join T cells to drive sight-threatening arthritis in children

A team led by UCL researchers with Great Ormond Street Hospital (GOSH) and Moorfields Eye Hospital, found B cells—alongside T cells—play a key role in arthritis-related eye disease (JIA uveitis), a condition that can cause long-term vision loss in children. The study challenges how the disease has been previously understood, and could open the door to new treatments that help protect children’s sight.

Juvenile idiopathic arthritis (JIA) is the most common form of arthritis in children under the age of 16, affecting around one in every 1,000 children in the UK. Approximately 30% of patients with JIA also develop uveitis—an inflammatory condition of the eye that is potentially sight-threatening.

Although some treatments are available today for the condition, up to a third of affected children still experience some degree of permanent vision loss by the time they reach adulthood.

An off-the-shelf immunotherapy for targeting solid tumors: Ready-to-use CAR-NKT cells show promise

A UCLA research team has identified the best design for a promising new type of immunotherapy that could be mass-produced to treat multiple solid tumors. The study focused on engineered invariant natural killer T cells, or NKT cells—powerful immune cells with a unique ability to infiltrate solid tumors—and systematically compared four targeting systems, called chimeric antigen receptors, or CARs, that direct these cells to attack cancer.

The study was published in the journal Blood Immunology & Cellular Therapy.

CAR-T cell therapies have revolutionized treatment for certain blood cancers like leukemia and lymphoma, but these successes haven’t extended to solid tumors, which make up the vast majority of cancers. Solid tumors build dense protective barriers that block therapeutic cells from reaching the cancer and display varied targets that allow cancer cells to escape detection.

A simple blood test could change how Alzheimer’s is diagnosed

A blood test, combined with an ultrathin material derived from graphite, could significantly advance efforts to detect Alzheimer’s disease at its very earliest stage, even before symptoms appear.

Alzheimer’s disease is the most common form of dementia. For millions of Europeans—and the health services that care for them—it is a ticking time bomb, with still no cure. But EU researchers are developing a simple tool to enable much earlier detection, potentially decades before symptoms appear.

Early detection matters because treatment is most effective when started as soon as possible. This gives people a better chance to slow the progression of the disease and plan for the future. Today, around 7 million people in Europe live with Alzheimer’s, a number expected to double by 2030, according to the European Brain Council.

Abstract: It’s about TIME (tumor immune microenvironment) for BreastCancer

Here, Carlos L. Arteaga & team analyze patient biopsies, finding CD8+ T cells in the TIME promote resistance to estrogen suppression in HR+ breast cancer via CXCL11 and immune-related pathways:

The images: GeoMx-based immunofluorescence of breast tumor tissue obtained during estrogen deprivation therapy (letrozole) demonstrates increased immune cell infiltration in estrogen deprivation–resistant tumors (right) compared with sensitive tumors (left).

1UT Southwestern Simmons Comprehensive Cancer Center, Department of Internal Medicine, University of Texas Southwestern (UTSW) Medical Center, Dallas, Texas, USA.

2Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

3Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA.

Few studies report on urinary microbiota, especially in pediatric conditions

Here, Miguel Verbitsky & team analyze urine from 325 participants in the Randomized Intervention for Children with Vesicoureteral Reflux study (RIVUR study), revealing genetic variations influence bacterial composition of urine in children with recurrent urinary infections and vesicoureteral reflux:

The image shows cytokeratin 5 and smooth muscle actin labeling after UTI in mouse bladder, which increases expression of Cxcl12 and Cxcr4.

3Department of Dermatology; and.

4Center for Precision Medicine and Genomics, Columbia University, New York, New York, USA.

5Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Reproduction in space, an environment hostile to human biology

As commercial spaceflight draws ever closer and time spent in space continues to extend, the question of reproductive health beyond the bounds of planet Earth is no longer theoretical but now “urgently practical,” according to a new study published in the journal Reproductive Biomedicine Online.

“More than 50 years ago,” explains clinical embryologist Giles Palmer from the International IVF Initiative Inc, “two scientific breakthroughs reshaped what was thought biologically and physically possible—the first moon landing and the first proof of human fertilization in vitro.

Now, more than half a century later, we argue in this report that these once-separate revolutions are colliding in a practical and underexplored reality: space is becoming a workplace and a destination, while assisted reproductive technologies have become highly advanced, increasingly automated and widely accessible.

A programmable, Lego-like material for robots emulates life’s flexibility

Mechanical engineers at Duke University have demonstrated a proof-of-concept method for programming mechanical properties into solid Lego-like building blocks. By controlling the solidity of hundreds of individual cells in specific patterns, the approach could allow futuristic robotics to alter their mechanical properties and functionalities on the fly.

In their initial tests, the researchers showed how a tail-like 3D beam with various configurations can move a robotic fish through water along different paths with the same motor activity. The team envisions miniaturized versions of the technology that could, for example, maneuver through blood vessels to survey their health or even reconfigure to form an adaptive stent.

The research appears in the journal Science Advances.

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