Epilepsy could become easier to pinpoint with blood test

Researchers from Lund University in Sweden have discovered higher levels of immune proteins in the blood before and after an epileptic seizure. The possible biomarkers can be identified using a simple blood test. Diagnosing epilepsy is currently resource intensive, and distinguishing it from other conditions can be challenging. Better diagnostic methods as soon as the patient seeks medical care after a suspected seizure is therefore an urgent necessity.

Epilepsy is the collective name for abnormal activity in the brain that causes temporary loss of control of behavior and movement. The condition can be congenital, be caused by a tumor, stroke or infection in the brain and cause very different symptoms depending on which part of the brain the episode begins in or spreads to. Inflammation processes that start as an immune response in the body can also provoke a seizure. That is why researchers started to look for possible biomarkers for epilepsy within the immune system. Previous studies exist, but the results have so far been mixed and difficult to interpret:

“In our study, we have a carefully selected group of participants and we have a lot of background information on each person. We have also taken into account a number of confounding factors that may affect the immune system such as other neurological and immunological illnesses, infections and various psychiatric conditions,” says Christine Ekdahl Clementson.

New tool for diagnosing and evaluating the severity of sarcopenia

From left to right, researchers from the Faculty of Medicine and Welfare of WITH (Campus Bellvige) Maribel Miguel, Ingrid Mötller and Joan Basi.
Photo Credit: Courtesy of University of Barcelona

Sarcopenia is a degenerative disease characterized by a pathological decrease in muscle strength that especially affects older people. Researchers at the University of Barcelona have developed a new tool to assess the presence and severity of this muscle failure. The study, published in the journal RMD Open, provides a muscle quality scoring system based on musculoskeletal ultrasound, which has been validated with anatomical and histological samples of patients. It is the first imaging method that assesses muscle quality, an essential factor in the disease. According to researchers, these results could be useful "not only for diagnostic purposes, but also for monitoring patients in clinical practice and also in clinical trials.".

Researchers from the Human Anatomy and Embryology Unit and the Histology Unit of the Department of Pathology and Experimental Therapeutic Therapeutic Tepell de la Faculty of Medicine and Health Sciences (Campus Bellvige) of the UB. Also, experts from the Puigvert Foundation, the University of Genoa, the University of Oslo and the University of Copenhagen have been trained.

Cause of leukemia in trisomy 21

Bone marrow smear from a child with Down syndrome who suffers from leukemia. The purple-colored leukemic blasts displace normal blood formation.
Photo Credit: Jan Klusmann, University Hospital Frankfurt

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukemia (AML), an aggressive form of blood cancer. Scientists led by the Department of Pediatrics at University Hospital Frankfurt have now identified the cause: although the additional chromosome 21 leads to increased gene dosage of many genes, it is above all the perturbation of the RUNX1 gene – a gene that regulates many other genes – that seems to be responsible for AML pathogenesis. Targeting the perturbed regulator could pave the way for new therapies. 

Leukemia (blood cancer) is a group of malignant and aggressive diseases of the blood-forming cells in the bone marrow. Very intensive chemotherapy and in some cases a bone marrow transplant are the only cure. Like all cancers, leukemia is caused by changes in the DNA, the heredity material present in human cells in the form of 46 chromosomes. In many forms of leukemia, large parts of these chromosomes are altered. People with Down syndrome, who have three copies of chromosome 21 (trisomy 21), are highly vulnerable: the risk of developing aggressive Acute Myeloid Leukemia (AML) in the first four years of their life is more than 100 times greater for children with Down syndrome. Down syndrome is the most common congenital genetic disorder, affecting about one in 700 newborn babies. 

Delaying treatment for localized prostate cancer does not increase mortality risk, trial shows

Photo Credit: Max

Active monitoring of prostate cancer has the same high survival rates after 15 years as radiotherapy or surgery, reports the largest study of its kind today. The latest findings from the ProtecT trial, led by the Universities of Oxford and Bristol, are presented today at the European Association of Urology (EAU) Congress in Milan and published in the New England Journal of Medicine.

Although men on active monitoring – which involves regular tests to check on the cancer – were more likely to see it progress or spread than those receiving radiotherapy or surgery, this didn’t reduce their likelihood of survival.

The trial also found that the negative impacts of radiotherapy and surgery on urinary and sexual function persist much longer than previously thought – for up to 12 years.

The findings show that treatment decisions following diagnosis for low and intermediate risk localized prostate cancer do not need to be rushed, according to lead investigator, Professor Freddie Hamdy from the University of Oxford.

Revolutionary new bone cancer drug could save children's lives

Osteosarcoma, Bone Cancer Cell
Cancer that starts in the bones, rather than cancer that has spread to the bone, predominantly affects children and young adults
Image Credit: National Cancer Institute

A new drug that works against the main types of primary bone cancer has been developed by researchers at the University of East Anglia and University of Sheffield.

Cancer that starts in the bones, rather than cancer that has spread to bone, predominantly affects children and young adults.      

Current treatment is brutal, with outdated chemotherapy cocktails and limb amputation leading to life-long disabilities.

Even after these grueling treatments, the five-year survival rate is still poor at just 42 per cent – largely because of how rapidly bone cancer spreads to the lungs. These rates haven’t changed in nearly half a century.

But a new study published in the Journal of Bone Oncology shows how a new drug called ‘CADD522’ blocks a gene associated with driving the cancer’s spread, in mice implanted with human bone cancer.

New Tool for Understanding Disease

Lina Pradham (left), a post-doctoral researcher in the Kloxin Group points out dormant breast cancer cells in 3D cultures imaged using confocal microscopy to UD engineer April Kloxin, Thomas and Kipp Gutshall Development Professor of Chemical and Biomolecular Engineering. In the image, the dormant cells (shown in green) are viable, not proliferating, and remain capable of proliferating upon stimulation.
Photo Credit: Evan Krape / University of Delaware

UD model illuminates environmental cues that may contribute to breast cancer recurrence

Nearly 270,000 people in the United States are diagnosed with breast cancer each year. 

According to the Susan G. Komen Foundation, about 70-80% of these individuals experience estrogen receptor-positive (ER+) breast cancer, where cancer cells need estrogen to grow. In terms of treatment, this presence of hormone receptors provides a nice handle for targeting tumors, say with therapies that knock out the tumor cell’s ability to bind to estrogen and prevent remaining breast cancer cells from growing.

However, even if treated successfully, on average, one in five individuals with ER+ breast cancer experiences a late recurrence when dormant tumor cells in distant parts of the body, such as the bone marrow, reactivate anywhere from 5 to over 20 years after initial treatment.

Lipid analysis of alcohol-related liver disease offers potential new therapeutic targets

Illustration Credit: youngseok park

Analyses of lipids identified differences between normal liver samples and liver samples from patients with alcohol-related liver disease. The information could be used to find new treatments and for earlier detection of the disease.

Alcohol-related liver disease (ALDs) is prevalent, with one in five people that misuse alcohol found to have exhibited liver fibrosis – damaged and scarred liver tissue and a marker of advanced ALDs such as cirrhosis. Alcohol is a leading cause of cirrhosis with half of worldwide deaths from cirrhosis being caused by alcohol.

ALD is characterized by severe liver damage that causes swelling, weight loss, drowsiness and vomiting blood. The number of people with ALD in the UK has risen in the last few decades as alcohol misuse has increased.

It is widely understood that excessive alcohol consumption affects liver function and the transport of lipids. But researchers and clinicians currently don’t understand the molecular development of alcohol-related liver diseases, particularly its early development.

COVID-19 infections raise risk of long-term gastrointestinal problems

Ziyad Al-Aly, MD, has led multiple studies on long COVID-19 as a clinical epidemiologist at Washington University School of Medicine in St. Louis and the Veterans Affairs St. Louis Health Care system. His latest findings show that people who have been infected with COVID-19 are at an increased risk of developing a range of gastrointestinal conditions within the first month to a year after illness.
Photo Credit: Matt MIller / School of Medicine / Washington University in St. Louis

People who have had COVID-19 are at increased risk of developing gastrointestinal (GI) disorders within a year after infection compared with people who haven’t been infected, according to an analysis of federal health data by researchers at Washington University School of Medicine in St. Louis and the Veterans Affairs St. Louis Health Care system.

Such conditions include liver problems, acute pancreatitis, irritable bowel syndrome, acid reflux and ulcers in the lining of the stomach or upper intestine. The post-COVID-19 GI tract also is associated with an increased likelihood of constipation, diarrhea, abdominal pain, bloating and vomiting.

“Gastrointestinal problems were among the first that were reported by the patient community,” said senior author Ziyad Al-Aly, MD, a clinical epidemiologist at Washington University who has studied extensively the long-term effects of COVID-19 infection. “It is increasingly clear that the GI tract serves as a reservoir for the virus.”

Blood test identifies acute myeloid leukemia patients at greater risk for relapse after bone marrow transplant

Photo Credit: Tatiana

A small portion of adults in remission from a deadly blood cancer had persisting mutations that were detected, which predicted their risk of death from having the cancer return.

Researchers at the National Institutes of Health show the benefits of screening adult patients in remission from acute myeloid leukemia (AML) for residual disease before receiving a bone marrow transplant. The findings, published in JAMA, support ongoing research aimed at developing precision medicine and personalized post-transplant care for these patients.

About 20,000 adults in the United States are diagnosed each year with AML, a deadly blood cancer, and about one in three live past five years. A bone marrow transplant, which replaces unhealthy blood-forming cells with healthy cells from a donor, often improves these chances. However, research has shown that lingering traces of leukemia can make a transplant less effective. 

Researchers in the current study wanted to show that screening patients in remission for evidence of low levels of leukemia using standardized genetic testing could better predict their three-year risks for relapse and survival. To do that, they used ultra-deep DNA sequencing technology to screen blood samples from 1,075 adults in remission from AML. All were preparing to have a bone marrow transplant. The study samples were provided through donations to the Center for International Blood and Marrow Transplant Research.

Plastic containers can contain PFAS — and it’s getting into food

Illustration Credit: University of Notre Dame

Researchers at the University of Notre Dame are adding to their list of consumer products that contain PFAS (per- and polyfluoroalkyl substances), a toxic class of fluorine compounds known as “forever chemicals.”

In a new study published in Environmental Science and Technology Letters, fluorinated high-density polyethylene (HDPE) plastic containers — used for household cleaners, pesticides, personal care products and, potentially, food packaging — tested positive for PFAS. Following a report conducted by the EPA that demonstrated this type of container contributed high levels of PFAS to a pesticide, this research demonstrates the first measurement of the ability of PFAS to leach from the containers into food as well as the effect of temperature on the leaching process.

Results also showed the PFAS were capable of migrating from the fluorinated containers into food, resulting in a direct route of significant exposure to the hazardous chemicals, which have been linked to several health issues including prostate, kidney and testicular cancers, low birth weight, immunotoxicity and thyroid disease.

“Not only did we measure significant concentrations of PFAS in these containers, we can estimate the PFAS that were leaching off creating a direct path of exposure,” said Graham Peaslee, professor of physics in the Department of Physics and Astronomy at Notre Dame and an author of the study.

Small size of bioprosthetic aortic valves less dangerous than previously believed

Michael Dismorr
Photo Credit: Oliver von Olnhausen

Researchers at the Thoracic Surgery research group, the Department of Molecular Medicine and Surgery, have performed a nation-wide study of patients who underwent bioprosthetic aortic valve replacement in Sweden between 2003 and 2018. The study is published in the Journal of the American College of Cardiology, JACC, and shows that it is less dangerous than previously believed to receive a small bioprosthetic aortic valve in relation to the patient's size.

During surgical aortic valve replacement, the patient receives a valve prosthesis that matches the size of the aortic root. Sometimes, that size is too small in relation to the patient’s body size. This puts strain on the heart to pump enough blood that the body needs through a narrow valve. The level of “narrowness” is measured as Prosthesis Patient Mismatch, PPM.

“Prior studies have shown that both moderate and severe PPM decreases survival and increases the risk for heart failure. In our study, we can confirm that severe PPM decreases survival and increases the risk for heart failure, while moderate PPM has a very limited effect on survival and no effect on the risk for heart failure”, says Michael Dismorr, postdoctoral researcher at the Department of Molecular Medicine and Surgery and first author of the study.

New Fluorescent Sensors Make it Possible to Detect the Concentration of Mercury in Water

New fluorophores selectively and with high sensitivity recognize mercury ions.
Photo Credit: Anna Marinovich

Scientists from the UrFU, together with Italian and Bulgarian colleagues, synthesized new heterocyclic fluorophores - four types of carboxamides of 2-aryl-1,2,3-triazoles. Their photophysical properties have been investigated under different conditions - solvents and their binary mixtures with water. Sensors based on the fluorophores obtained were sensitive to mercury, so they can be used to detect mercury concentrations in water. Further research will focus on determining the possibility of using these fluorophores to target medicines to affected organs. The authors have published an article on their research and results in the journal Spectrochimica Acta - Part A: Molecular and Biomolecular Spectroscopy.

"A disadvantage of organic fluorophores is their poor solubility in water and aqueous environments. At the same time, when water is added to organic solvents, most dyes and fluorophores have fluorescence quenching. However, in 2001, Professor Ben Zhong Tan of the Chinese University of Hong Kong found that some fluorophores observed not quenching, but rather an increase the fluorescence intensity. This is due to the formation of much larger particles, or nano-aggregates, from the molecules of fluorophores. Tan's discovery was of great significance. Much scientific effort has been devoted to studying the mechanism of his discovery, as well as to the design and synthesis of new fluorophores with the effect of increasing the emission. The fluorophores we obtained have also demonstrated in a mixture of organic solvent and water the effect described by Tang, and with a particular intensity. This opens the way to the practical application of the obtained fluorophores in various fields, especially in the aquatic environment," says Natalya Belskaya, Full Professor of the UrFU Department of Technology of Organic Synthesis and leader of the research team.

Taking care of your teeth could help prevent chronic joint pain

Vicky Yao is an assistant professor of computer science at Rice University.
Photo by Ruth Dannenfelser/Rice University

Regular visits to the dentist might help keep joint pain at bay, too.

When Rice University computational biologist Vicky Yao found traces of bacteria associated with periodontal disease in samples collected from rheumatoid arthritis patients, she was not sure what to make of it.

Her finding helped spark a series of experiments that confirmed a connection between arthritis flare-ups and periodontitis. The study is published in Science Translational Medicine.

Tracing this connection between the two conditions could help develop therapies for rheumatoid arthritis, an autoimmune inflammatory disease that attacks the lining of the joints and can cause heart, lung and eye problems. The approach that led to the study could prove fruitful in other disease contexts, such as cancer.

“Data gathered in experiments from living organisms or cells or tissue grown in petri dishes is really important to confirm hypotheses, but, at the same time, this data perhaps holds more information than we are immediately able to derive from it,” Yao said.

Rare genetic disease: researchers discover new treatment for ADCY5-related dyskinesia

The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center. In the journal PLOS ONE, the researchers describe the case of a child with this disease whose symptoms improved significantly with the drug. ADCY5-related dyskinesia is an extremely rare disorder that causes dyskinesia and uncontrolled movements in affected individuals. Currently, there is no cure for this disease.

ADCY5-related dyskinesia is caused by defects in the ADCY5 gene. "Just one error in the genetic code of this gene can have devastating consequences," says Professor Andrea Sinz from the Institute of Pharmacy at MLU. In the case of ADCY5-related dyskinesia, the genetic defect causes a specific enzyme in the cells to become overactive. This enzyme is involved in the production of the second messenger "cAMP".

In those affected, too much "cAMP" tends to lead to uncontrolled movements, dyskinesia, and many other symptoms, such as speech deficiencies, starting in early infancy. The disease is considered very rare. According to estimates by the US National Institutes of Health, between one and 300 people are living with the disease in the United States; however, more precise numbers are not available. "Rare diseases like ADCY5-related dyskinesia are often not recognized and accurately diagnosed," says Sinz. The symptoms are easily confused with other medical conditions.

Light-Induced Acceleration of Intracellular Delivery

Conceptual image of various cellular uptake processes accelerated by light irradiation
Illustration Credit: Courtesy of Osaka Metropolitan University

Light-induced accelerating system to increase the concentration of bio- functional molecules around targeted cells and their cytosolic delivery.

Cell membranes are barriers that maintain cellular homeostasis, and the intracellular delivery of biologically functional molecules, including peptides, proteins, and nucleic acids to manipulate cellular functions. Conventional intracellular uptake processes require high concentrations of bio functional molecules with low permeability to pass through the cell membrane. This results in low drug activity because the probability of the bio-functional molecules entering target cells and their organelles is low. In addition, many drugs damage healthy cells as well as the cells that are supposed to target due to poor selectivity, making it necessary to develop technology that can increase drugs’ selectivity so that they enter targeted cells with high efficiency.

A research group led by Professor Ikuhiko Nakase (Assistant Director) and Professor Takuya Iida (Director) of the Research Institute for Light-induced Acceleration System (RILACS) at Osaka Metropolitan University used light-induced convection with the aid of superradiance to achieve enhanced permeability of the cell membrane, by locally concentrating bio-functional molecules, including cell-penetrating peptides (CPPs). The light-induced system was capable of effective drug delivery, even at concentrations as low as 1 pmol/L.

Poverty is linked to increased dementia risk, regardless of genetics

Researchers looked at poverty and low socioeconomic status.
Photo Credit: Leroy Skalstad

People who live in poverty are significantly more likely to develop dementia compared to people of higher socioeconomic status, regardless of genetic risk, new research concludes.

A largescale study published in the American Journal of Preventative Medicine examined data from 196,368 UK Biobank participants whose genetic risk for developing dementia was assessed.

In the paper, researchers looked at poverty, or low socioeconomic status, on two levels. The researchers investigated the contribution of individual socioeconomic deprivation, including low income and low wealth. They also looked at area-level socioeconomic deprivation, including rates of employment, and the number of people who owned a car or home. They calculated risk of developing dementia, and compared these with genetic risk for dementia.

They found that deprivation, both linked to socioeconomic conditions of households and at area level, contributed to risk of dementia. The increased risk was particularly associated with people living in very disadvantaged neighborhoods.

Lipid nanoparticles highly effective in gene therapy

The RNP-ssODN is designed to ensure the CRISPR-Cas9 molecule is encapsulated by the LNP. Once inside the cells, the ssODN dissociates and CRISPR-Cas9 can carry out its effect.
Illustration Credits: Haruno Onuma, Yusuke Sato, Hideyoshi Harashima. Journal of Controlled Release. February 10, 2023.

Lipid nanoparticles have been used to encapsulate CRISPR-Cas9 and deliver it to cells in mice, where it was highly effective at knocking down expression of a target protein.

Gene therapy is a potential mode of treatment for a wide variety of diseases caused by genetic mutations. While it has been an area of diverse and intense research, historically, only a very few patients have been treated using gene therapy—and fewer still cured. The advent of the genetic modification technique called CRISPR-Cas9 in 2012 has revolutionized gene therapy—as well as biology as a whole—and it has recently entered clinical trials for the treatment of some diseases in humans.

Haruno Onuma, Yusuke Sato and Hideyoshi Harashima at Hokkaido University have developed a new delivery system for CRISPR-Cas9, based on lipid nanoparticles (LNPs), that could greatly increase the efficiency of in vivo gene therapy. Their findings were published in the Journal of Controlled Release.

Chemical imaging could help predict efficacy of radiation therapy for an individual cancer patient

Concept illustration of body chemistry.
Image Credit: Nicole Smith, made with Midjourney. Courtesy of University of Michigan

Decisions on cancer treatment could become better tailored to individual patients with the adoption of a new imaging method being developed by University of Michigan researchers that maps the chemical makeup of a patient’s tumor.

Today, treatment methods for cancer—whether surgery, radiation therapy or immunotherapy—are recommended based mainly on the tumor’s location, size and aggressiveness. This information is usually obtained by anatomical imaging—MRI or CT scans or ultrasound and by biological assays performed in tissues obtained by tumor biopsies.

Yet, the chemical environment of a tumor has a significant effect on how effective a particular treatment may be. For example, a low oxygen level in tumor tissue impairs the effectiveness of radiation therapy.

Now, a team of scientists from the University of Michigan and two universities in Italy has demonstrated that an imaging system that uses special nanoparticles can provide a real-time, high-resolution chemical map that shows the distribution of chemicals of interest in a tumor.

It could lead to a way to help clinicians make better recommendations on cancer therapy tailored to a particular patient—precision medicine.

Child obesity linked to increased risk of several types of diabetes as an adult

Yuxia Wei, doctoral student at Institute of Environmental Medicine and the study's first author.
Photo Credit: Jingwei Zhao

Child obesity is linked to an increased risk of suffering from diabetes in adulthood and the risk increase concerns both autoimmune forms of diabetes and various forms of type 2 diabetes, according to a new study published in Diabetologia. For example, the risk of suffering from the most insulin-resistant form of diabetes is three times as high for obese children.

Diabetes affects about seven percent of the adult population and is one of the world's fastest growing diseases. Diabetes has traditionally been divided into two subgroups, type 1 and type 2 diabetes, but research suggests that this is a gross simplification.

In 2018, a Swedish study identified five subgroups of adult-duty diabetes. These are characterized by autoimmunity, severe insulin deficiency, severe insulin resistance, obesity and high age, respectively.

Diabetes affects about seven percent of the adult population and is one of the world's fastest growing diseases. Diabetes has traditionally been divided into two subgroups, type 1 and type 2 diabetes, but research suggests that this is a gross simplification.

Blood test for brain cancer may be on horizon, new research finds

Researchers at Penn State College of Medicine have identified a biomarker that can be used in blood tests to diagnose glioblastoma, the most common and deadliest type of brain cancer, and track its progression and guide treatment.
Photo Credit: National Cancer Institute

Glioblastoma (GBM) is the most common and deadliest type of brain cancer with a five-year survival rate of only 5%. Researchers at Penn State College of Medicine have identified a biomarker that can be used in blood tests to diagnose GBM, track its progression and guide treatment. The researchers said that such a non-invasive liquid biopsy for GBM could help patients get the care they need more quickly.

“Patients normally receive imaging, such as MRI or CT scans, to diagnose and track the progression of brain tumors, but it can be difficult for physicians to tell from those scans if the patient is getting better or worse because they don’t provide detail at the cellular or molecular level,” said Vladimir Khristov, graduate and medical student, Penn State. “That is why we need a supplemental diagnostic test to help physicians determine if the tumors are responding to therapy and regressing, or if they are getting worse and need additional treatment.”

Indeed, added Brad Zacharia, associate professor of neurosurgery and of otolaryngology, Penn State, a liquid biopsy for glioblastoma could be of tremendous value to patients suffering from this devastating tumor.