Categories : Cardiovascular DiseaseTags :

After Cardiac Event, Excessive Sedentary Time Led to Increased Risk of Another Event

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People who sit or remain sedentary for more than 14 hours a day, on average, may have a higher risk of a cardiovascular event or death in the year after treatment at a hospital for symptoms of a heart attack such as chest pain, according to new research published today in the American Heart Association’s peer-reviewed scientific journal Circulation: Cardiovascular Quality and Outcomes.

Previous research from the study authors found that people who had experienced a heart attack were spending up to 12 to 13 hours each day being sedentary, defined as any awake activity that involved little-to-no physical movement. In this study, the researchers used a wrist accelerometer to track the amount of time each participant spent moving or being sedentary for a median of 30 days after discharge from a hospital’s emergency department. 

Wrist accelerometers measure the acceleration of motion in three directions: forwards and backwards, side-to-side, and up and down. These measurements allowed the researchers to infer the intensity of a participant’s physical activity, and they provide more accurate measurements of the participants’ time spent moving, rather than asking participants to remember. Some examples of moderate intensity physical activities are brisk walking, water aerobics, dancing, playing doubles tennis or gardening, and examples of vigorous-intensity activities are running, lap swimming, heavy yardwork such as continuous digging or hoeing, playing singles tennis or jumping rope.

”Current treatment guidelines after a cardiac event focus mainly on encouraging patients to exercise regularly,” said study lead author Keith Diaz, Ph.D., the Florence Irving Associate Professor of Behavioral Medicine at Columbia University Medical Center in New York City, a certified exercise physiologist and a volunteer member of the American Heart Association’s Physical Activity Science Committee. “In our study, we explored whether sedentary time itself may contribute to cardiovascular risk.”

Researchers followed more than 600 adults, ages 21 to 96, treated for a heart attack or chest pain in the emergency department at a single hospital system in New York City. Participants wore a wrist accelerometer for a median of 30 consecutive days after hospital discharge to measure the amount of time they spent sitting or being inactive each day. Additional cardiac events and deaths were evaluated one year after hospital discharge via phone surveys with patients, electronic health records and the Social Security Death Index. The study was focused on understanding the risk of sedentary behavior and identifying modifiable risk factors that may improve long-term outcomes in this high-risk group.

The analysis found:

  • Compared to participants in the group with the highest physical activity level, those in the group with the lowest activity level had a 2.58 times higher risk of having another heart problem or dying within the next year.
  • Replacing 30 minutes of sedentary time with 30 minutes of moderate to vigorous physical activity, daily, reduced the risk of adverse cardiovascular events or death by 61%; replacing the sedentary time with light-intensity physical activity reduced risk by 50%; and replacing the sedentary time with 30 minutes of sleep lowered risk by 14%.
  • According to accelerometer data, participants in the most physically active group had average daily physical activity measures of 143.8 minutes of light physical activity; 25 minutes of moderate-to-vigorous physical activity; 11.7 hours spent sedentary; and 8.4 hours of sleep.
  • Participants in the least physically active group had daily averages of 82.2 minutes each day of light physical activity; 2.7 minutes of moderate-to-vigorous physical activity; 15.6 hours spent sedentary; and 6.6 hours of sleep.
  • Participants in the group between most and least physically active had daily averages of 109.2 minutes of light intensity physical activity; 11.4 minutes of moderate-to-vigorous intensity physical activity; 13.5 hours spent sedentary and 7.8 hours of sleep.

“We were surprised that replacing sedentary time with sleep also lowered risk. Sleep is a restorative behavior that helps the body and mind recover, which is especially important after a serious health event like a heart attack,” Diaz said. “Our study indicates that one doesn’t have to start running marathons after a cardiovascular event to see benefits. Sitting less and moving or sleeping a little more can make a real difference. More physical activity and more sleep are healthier than sitting, so we hope these findings support health professionals to move toward a more holistic, flexible and individualized approach for physical activity in patients after a heart attack or chest pain.”

Physical activity and sleep are both key components of the American Heart Association’s Life’s Essential 8, a list of health behaviours and factors that support optimal cardiovascular health. Poor sleep is a known risk factor for cardiovascular disease, which claims more lives each year in the U.S. than all forms of cancer and chronic lower respiratory disease combined, according to the American Heart Association’s 2025 Statistical Update. In addition to sleep duration, a recent scientific statement from the Association highlighted the importance of sleep continuity, sleep timing, sleep satisfaction, sleep regularity, sleep-related daytime functioning and sleep architecture in cardiometabolic health.

The study had several limitations, including that the definition of sedentary behaviour was based only on the intensity level of physical movement, meaning that the study may have overestimated the time participants spent in sedentary behaviour. Additionally, there was no information about participants’ income and characteristics of the neighbourhoods where they live, which limits the study’s ability to account for social and environmental factors, including participants’ risk of one-year cardiac events and deaths. Also, hospital discharge information about whether patients were sent home, referred to rehabilitation or referred to other care centres such as skilled nursing facilities were not collected. This limited the study’s ability to fully assess whether the patients’ settings had an impact on their recovery.

Source: American Heart Association

Categories : VaccinesTags :

Amid Surge in Cases, UK’s NHS to Offer Gonorrhoea Vaccine

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Neisseria gonorrhoeae Bacteria Scanning electron micrograph of Neisseria gonorrhoeae bacteria, which causes gonorrhoea. Captured by the Research Technologies Branch (RTB) at the NIAID Rocky Mountain Laboratories (RML) in Hamilton, Montana. Credit: NIAID. Photo by National Institute of Allergy and Infectious Diseases on Unsplash

In the midst of a record high in gonorrhoea cases, the NHS is to offer a gonorrhoea vaccine to gay and bisexual men with a history of multiple partners or a sexually transmitted infection (STI), the BBC reports. The gonorrhoea vaccination, which is actually a repurposed meningococcal vaccine, is estimated only to be 30–40% effective. Research shows, however, that this will be sufficient to reduce cases and their attendant costs to the NHS.

Gonorrhoea is caused by the bacterium Neisseria gonorrhoeae and is typically transmitted by having intercourse without a condom. It can cause pain, unusual discharge, genital inflammation and infertility. Evidence has shown that the MeNZB and four-component serogroup B meningococcal (4CMenB) vaccines, designed against Neisseria meningitidis, can also offer protection against gonorrhoea.

In 2023, there were more than 85 000 cases – the highest since records began in 1918. A study published in The Lancet estimates that gonorrhoea vaccination would prevent 100 000 cases, saving the NHS £7.9 million over the next decade.

While gonorrhoea is treatable with antibiotics, resistance is growing and there is concern that it may eventually become untreatable. According to The Guardian, some cases are now “extensively drug resistant” (XDR) – not responsive to ceftriaxone or the second line of treatment. There were 17 cases of ceftriaxone-resistant gonorrhoea between January 2024 and March 2025, the UK Health Security Agency (UKHSA) reported.

Over the same period, nine XDR cases were reported, while between 2022 and 2023, there were only five.

The people most affected by gonorrhoea in the UK are the 16 to 25 age group, gay and bisexual men, and those of black and Caribbean ancestry. The study’s scenario for vaccinating at-risk populations included those who had more than five sexual partners per year or who had a positive gonorrhoea test.

The vaccine, costing about £8 per dose, is cost-effective when administered to this at-risk group of men, rather than adolescents. Despite this, clinicians will be able to offer the vaccine to anyone who, in their judgment, would benefit from it. Other vaccines such as for mpox – another STI with high transmission between gay and bisexual men – and hepatitis will also be offered.

Categories : Cardiovascular DiseaseTags :

Controlling 8 Risk Factors may Eliminate Early Death Risk from Hypertension

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Pexels Photo by Thirdman

A new study led by researchers at Tulane University suggests that people with hypertension can significantly reduce, and possibly eliminate, their increased risk of premature death by controlling several key health risk factors at once.

The study, appearing in Precision Clinical Medicine, tracked more than 70 000 people with hypertension and over 224 000 without it, using data from the UK Biobank. Researchers followed participants for nearly 14 years to understand how managing these risk factors affected early mortality, defined as dying before age 80.

The eight health risk factors evaluated in the study include: blood pressure, body mass index, waist circumference, LDL “bad” cholesterol, blood sugar, kidney function, smoking status and physical activity. Notably, researchers found that hypertensive patients who had addressed at least four of these risk factors had no greater risk of an early death than those without hypertension. 

“Our study shows that controlling blood pressure is not the only way to treat hypertensive patients, because high blood pressure can affect these other factors,” said corresponding author Dr Lu Qi, professor of epidemiology at Tulane University. “By addressing the individual risk factors, we can help prevent early death for those with hypertension.” 

Hypertension, defined as a blood pressure of 130mmHg or higher, is the leading preventable risk factor for premature death worldwide. 

The study found that addressing each additional risk factor was associated with a 13% lower risk of early death, 12% lower risk of early death due to cancer and 21% lower risk of death due to cardiovascular disease, the leading cause of premature death globally.

“Optimal risk control” – having 7 or more of the risk factors addressed – was linked to 40% less risk of early death, 39% less risk of early death due to cancer and 53% less risk of early death due to cardiovascular disease. 

“To our knowledge, this is the first study to explore the association between controlling joint risk factors and premature mortality in patients with hypertension,” Qi said. “Importantly, we found that any hypertension-related excess risk of an early death could be entirely eliminated by addressing these risk factors.” 

Only 7% of hypertensive participants in the study had seven or more risk factors under control, highlighting a major opportunity for prevention. Researchers say the findings underscore the importance of personalised, multifaceted care – not just prescribing medication for blood pressure, but addressing a broader range of health behaviours and conditions.

Source: Tulane University

Categories : Diseases, Syndromes and Conditions GeneticsTags :

Baby with Rare, Incurable Disease is First to Receive Personalised Gene Therapy

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NIH-supported gene-editing platform lays groundwork to rapidly develop treatments for other rare genetic diseases.

Photo by Sangharsh Lohakare on Unsplash

A research team supported by the National Institutes of Health (NIH) has developed and safely delivered a personalised gene editing therapy to treat an infant with a life-threatening, incurable genetic disease. The infant, who was diagnosed with the rare condition carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after birth, has responded positively to the treatment.

The process, from diagnosis to treatment, took only six months and marks the first time the technology has been successfully deployed to treat a human patient. The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders and opens the possibility of creating personalised treatments in other parts of the body.

A team of researchers at the Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn) developed the customised therapy using the gene-editing platform CRISPR. They corrected a specific gene mutation in the baby’s liver cells that led to the disorder. CRISPR is an advanced gene editing technology that enables precise changes to DNA inside living cells. This is the first known case of a personalised CRISPR-based medicine administered to a single patient and was carefully designed to target non-reproductive cells so changes would only affect the patient.

“As a platform, gene editing – built on reusable components and rapid customisation – promises a new era of precision medicine for hundreds of rare diseases, bringing life-changing therapies to patients when timing matters most: Early, fast, and tailored to the individual,” said Joni L. Rutter, Ph.D., director of NIH’s National Center for Advancing Translational Sciences (NCATS).

CPS1 deficiency is characterized by an inability to fully break down byproducts from protein metabolism in the liver, causing ammonia to build up to toxic levels in the body. It can cause severe damage to the brain and liver. Treatment includes a low protein diet until the child is old enough for a liver transplant. However, in this waiting period there is a risk of rapid organ failure due to stressors such as infection, trauma, or dehydration. High levels of ammonia can cause coma, brain swelling, and may be fatal or cause permanent brain damage.

The child initially received a very low dose of the therapy at six months of age, then a higher dose later. The research team saw signs that the therapy was effective almost from the start. The six-month old began taking in more protein in the diet, and the care team could reduce the medicine needed to keep ammonia levels low in the body. Another telling sign of the child’s improvement to date came after the child caught a cold, and later, had to deal with a gastrointestinal illness. Normally, such infections for a child in this condition could be extremely dangerous, especially with the possibility of ammonia reaching dangerous levels in the brain.

“We knew the method used to deliver the gene-editing machinery to the baby’s liver cells allowed us to give the treatment repeatedly. That meant we could start with a low dose that we were sure was safe,” said CHOP pediatrician Rebecca Ahrens-Nicklas, MD, PhD.

“We were very concerned when the baby got sick, but the baby just shrugged the illness off,” said Penn geneticist and first author Kiran Musunuru, MD, PhD. For now, much work remains, but the researchers are cautiously optimistic about the baby’s progress.

The scientists announced their work at the American Society of Gene & Cell Therapy Meeting on May 15th and described the study in The New England Journal of Medicine.

Source: NIH/Office of the Director

Categories : AllergiesTags :

Key Player in Childhood Food Allergies Identified: Thetis Cells

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Photo by cottonbro studio

A decade ago, a clinical trial in the UK famously showed that children who were exposed to peanuts in the early months of life had reduced risk of developing a peanut allergy compared with children who avoided peanuts.

Now, researchers at Memorial Sloan Kettering Cancer Center (MSK) have a likely answer as to why that’s the case: Thetis cells.

This recently discovered class of immune cells, which were first described by MSK researchers in 2022, plays an essential and previously unknown role in suppressing inflammatory responses to food, according to findings published in Science, one of the world’s premier scientific journals.

Moreover, the study, which was conducted in mouse models, points to a critical window in the early months of life for training the immune system not to overreact to food allergens, termed “oral tolerance.”

The study also opens the door to new therapeutic possibilities, the researchers say.

“This is a great example of how clinical studies can reveal clues to fundamental mechanisms in biology,” says physician-scientist Chrysothemis Brown, MBBS, PhD, the study’s senior author. “These new understandings can pave the way for new treatment strategies for food allergies, which are desperately needed.”

The research was led by co-first authors from the Brown Lab: paediatric hematologist-oncologist Vanja Cabric, MD, and research assistant Yollanda Franco Parisotto, PhD.

Thetis Cells Train the Immune System To Tolerate Helpful Outsiders

Thetis cells are a type of antigen-presenting cell, whose job is to present foreign substances (antigens) to other immune cells. Antigen-presenting cells must educate the immune system. These cells provide signals that tell the immune system to attack foreign bacteria and viruses – or instruct it to tolerate harmless proteins in the foods we eat.

Previous research led by Dr Brown and immunologist Alexander Rudensky, PhD, Chair of the Immunology Program at MSK’s Sloan Kettering Institute, identified a window in early life where a “developmental wave” of Thetis cells within the gut creates an opportunity for developing immune tolerance.

“We previously showed that Thetis cells train the immune system not to attack the helpful bacteria in the digestive system. So we wondered whether these cells might also be important for preventing inflammatory responses to food, and whether the increased abundance of the cells during early life would result in increased protection against food allergy,” says Dr. Brown, whose lab is in MSK’s Human Oncology and Pathogenesis Program (HOPP).

The new study found that Thetis cells not only help to broker peace accords with “good” bacteria, but also with proteins in foods that can act as allergens, such the Ara h proteins found in peanuts (though they weren’t specifically tested in the study) or the ovalbumin found in eggs.

Thetis cells got their name because they share traits with two different types of antigen-presenting cells: medullary thymic epithelial cells and dendritic cells, just as Thetis in Greek mythology had shape-shifting attributes.

A Key Role for Gut-Draining Lymph Nodes

The research team used a variety of genetically engineered mouse models to investigate oral tolerance. They attached a fluorescent dye to ovalbumin in order to visualise which cells in the gut interacted with it.

And this showed that a subset of Thetis cells, the same ones that regulated tolerance to healthy gut bacteria, took up the protein. This allowed Thetis cells to program another type of immune cell called regulatory T cells to suppress the immune response to the egg protein, essentially telling the body it was safe.

“This process is often studied in adult models, but by examining what happens when mice first encounter food proteins at the time of weaning, we could see which specific cells were critical to generating tolerance to food during early life,” Dr. Cabric says.

Although Thetis cells could also induce tolerance throughout life, there was a significant difference in the immune response when the egg protein was introduced later.

Source: Memorial Sloan Kettering Cancer Center

Categories : Cardiovascular Disease ExerciseTags :

The Effect of Physical Fitness on Mortality is Overestimated

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Photo by Ketut Subiyanto on Unsplash

Many observational studies have shown that people who exercise more and have good cardiorespiratory fitness early in life are at lower risk of premature death from causes such as cancer and cardiovascular disease. But a new study published in the European Journal of Preventive Cardiology suggests that the association between physical fitness and a reduced risk of mortality may be misleading.

“We found that people with high fitness levels in late adolescence had a lower risk of dying prematurely, for example from cardiovascular disease, compared to those with low fitness levels. But when we looked at their risk of dying in random accidents, we found an almost similarly strong association. This suggests that people with high and low fitness levels may differ in other important ways, which is something that previous studies have not fully taken into account,” says Marcel Ballin, associated researcher in epidemiology and lead author of the study.

Conscription data from over 1 million men

In the study, the researchers leveraged data from 1.1 million Swedish men who were conscripted for military service between the years 1972 and 1995. The men, who were on average 18 years old at the time of conscription, were divided into five groups based on their fitness level at the time. They were then followed until their 60s or until they died. With access to the National Cause of Death Register, the researchers were able to see their cause of death. They subsequently used different methods to study the association between fitness level in late adolescence and premature death.

The researchers started with a traditional analysis of mortality from cardiovascular disease, cancer and from all causes, as in previous observational studies. They adjusted their statistical models for factors such as BMI, age at conscription, year of conscription, and parents’ income and education level. The results showed that the group with the highest fitness level had a 58% lower risk of dying from cardiovascular disease, a 31% lower risk of dying from cancer, and a 53% lower risk of dying from all causes, compared with the group with the lowest fitness level.

Very similar risk of dying in random accidents

Next, the researchers examined how fitness was associated with the risk of dying in random accidents such as car accidents, drownings and homicides. They chose random accidents because they assumed that there ought to be no association between the men’s fitness in late adolescence and the risk of dying in random accidents. This method is called negative control outcome analysis and involves testing the validity of your results for a primary outcome by comparing them with an outcome where no association ought to be found. If, however, an association is found, it may indicate that the groups studied are not actually comparable, and that the study suffers from what is typically referred to as confounding. The researchers found that men with the highest fitness levels had a 53% lower risk of dying in random accidents. Yet, it is unlikely that the men’s fitness would have such a big effect on their risk of dying in random accidents.

These results were also confirmed when the researchers used the sibling comparison design. Using this method, the researchers compared the risk of premature death between siblings with different fitness levels to control for all the factors that the siblings share such as behaviours, environmental factors, and some genetic factors.

“It surprised us that the association with accidental mortality reflected the other associations, even after we controlled for all the factors that siblings share. This underlines how strong the assumptions are that you make in observational studies, since it appears to be very difficult to create comparable groups. The consequences may be that you overestimate the magnitudes of the effects you find,” says Marcel Ballin.

Picture confirmed in other studies

The study is one of the largest of its kind in which researchers used negative control outcomes to investigate whether the associations between fitness and mortality are in fact valid. The results in this study are also supported by other research.

“That the effects of good cardiorespiratory fitness may be overstated might sound controversial to some, but the fact is that if you look at the results from studies others than traditional observational studies, a more nuanced picture does emerge. A number of twin studies for example have found similar results. Some genetic studies also suggest that there are genes that affect both the propensity to be physically active or have a good fitness level, and the risk of developing diseases such as cardiovascular disease.”

Important to base interventions on correct estimates

Marcel Ballin also argues that there are many different reasons for promoting physical activity. However, large-scale interventions or policy changes intended to apply to the entire population must be based on reliable estimates – otherwise there is a risk of expecting effects that have in fact been overestimated.

“Our results should not be interpreted as if physical activity and exercise are ineffective or that you should not try to promote it. But to create a more nuanced understanding of how big the effects of fitness actually are on different outcomes, we need to use several different methods. If we just ask the question in the same way, we will always get the same answer. It’s only when we get the same answer to a question that we have asked in slightly different ways that we can be sure that the findings are accurate,” says Marcel Ballin.

Source: Uppsala University

Categories : Respiratory DiseasesTags :

Loss of Lung Capacity Starts Between the Ages of 20 and 25

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Photo by Ketut Subiyanto on Pexels

A study led by the Barcelona Institute for Global Health (ISGlobal), a centre supported by ”la Caixa” Foundation, in collaboration with the Clínic-IDIBAPS, has shown for the first time, how lung capacity evolves from childhood to old age. The findings, published in The Lancet Respiratory Medicine, provide a new basic framework for assessing lung health.

Until now, it was thought that lung function increased until it peaked at around 20–25 years of age, after which it stabilised. It was also thought that in later adulthood, lung function begins to decline as the lungs age. However, this model was based on studies that did not cover the whole life course.

In contrast, the current study used an “accelerated cohort design”, meaning data from several cohort studies were combined to cover the desired age range. “We included more than 30 000 individuals aged 4 to 82 years from eight population-based cohort studies in Europe and Australia,” explains Judith Garcia-Aymerich, first author of the study and co-director of the ISGlobal programme on Environment and Health over the Life Course. Lung function and lung capacity parameters were assessed using forced spirometry, a test in which the patient exhales all the air as quickly as possible after taking a deep breath. Data on active smoking and asthma diagnosis were also collected.

Two growth phases and an early decline

The study showed that lung function develops in two distinct phases: a first phase of rapid growth during childhood and a second phase of slower growth until peak lung function is reached. Lung function was assessed using two parameters: forced expiratory volume in one second (FEV1), which measures the amount of air expelled in the first second of a forced breath after a deep inhalation; and forced vital capacity (FVC), which is the maximum amount of air a person can breathe out without a time limit after a deep inhalation. 

In women, FEV1 peaks around the age of 20, while in men it peaks around the age of 23. Surprisingly, the study found no evidence of a stable phase following this peak. “Previous models suggested a plateau phase until the age of 40, but our data show that lung function starts to decline much earlier than previously thought, immediately after the peak,” explains Garcia-Aymerich.

Source: Barcelona Institute for Global Health (ISGlobal)

Categories : Metabolic Disorders NeurologyTags :

Could the Brain be Targeted to Treat Type 2 Diabetes?

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Source: CC0

Successfully treating type 2 diabetes may involve focusing on brain neurons, rather than simply concentrating on obesity or insulin resistance, according to a study published in the Journal of Clinical Investigation.  

For several years, researchers have known that hyperactivity of a subset of neurons located in the hypothalamus, called AgRP neurons, is common in mice with diabetes. 

“These neurons are playing an outsized role in hyperglycaemia and type 2 diabetes,” said UW Medicine endocrinologist Dr Michael Schwartz, corresponding author of the paper.

To determine if these neurons contribute to elevated blood sugar in diabetic mice, researchers employed a widely used viral genetics approach to make AgRP neurons express tetanus toxin, which prevents the neurons from communicating with other neurons. 

Unexpectedly, this intervention normalised high blood sugar for months, despite having no effect on body weight or food consumption.   

Conventional wisdom is that diabetes, particularly type 2 diabetes, stems from a combination of genetic predisposition and lifestyle factors, including obesity, lack of physical activity and poor diet. This mix of factors leads to insulin resistance or insufficient insulin production.  

Until now, scientists have traditionally thought the brain doesn’t play a role in type 2 diabetes, according to Schwartz. 

The paper challenges this and is a “departure from the conventional wisdom of what causes diabetes,” he said. 

The new findings align with studies published by the same scientists showing that injection of a peptide called FGF1 directly into the brain also causes diabetes remission in mice. This effect was subsequently shown to involve sustained inhibition of AgRP neurons.

Together, the data suggest that, while these neurons are important for controlling blood sugar in diabetes, they don’t play a major role in causing obesity in these mice, the researchers noted in their report.  

In other words, targeting these neurons may not reverse obesity, even as it causes diabetes to go into remission, Schwartz explained. 

More research is needed on how to regulate activity in these neurons, and how they become hyperactive in the first place, he said. Once these questions are answered, Schwartz said that a therapeutic approach might then be developed to calm them down. 

This approach could represent a shift in how clinicians understand and treat this chronic disease, Schwartz said.  He noted, for instance, that semaglutide and other new drugs used to treat type 2 diabetes are also able to inhibit AgRP neurons.  

The extent to which this effect contributes to the antidiabetic action of these drugs is unknown. Further research might help scientists to better understand the role of AgRP neurons in how the body normally controls blood sugar, and to ultimately translate these findings into human clinical trials, he added.  

Source: University of Washington School of Medicine/UW Medicine

Categories : Implants and Prostheses NeurologyTags :

New Auditory Brainstem Implant Shows Early Promise

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A new study co-led by Mass General Brigham researchers points to a promising new type of auditory brainstem implant (ABI) that could benefit people who are deaf due to Neurofibromatosis type 2 (NF2) and other severe inner ear abnormalities that prevent them from receiving cochlear implants. With further tests and trials, researchers hope it will provide a more effective treatment alternative than what is currently used.

In the new research, published in Nature Biomedical Engineering, scientists at Mass Eye and Ear, a member of the Mass General Brigham healthcare system, collaborated with scientists at the École Polytechnique Fédérale de Lausanne (EPFL) in Geneva, Switzerland, to report on a new class of soft, flexible ABIs that were designed to address the limitations of those currently used. These implants bypass damaged auditory structures and directly stimulate the brainstem’s sound-processing region to restore auditory function.

The new ABI was borne out of a decade-long collaboration between Mass Eye and Ear and EPFL scientists. It features an elastic, multilayer construct that includes ultra-thin platinum electrodes and silicone, a novel design that allows it to conform closely to the brainstem’s curved surface.

Conventional ABIs that are sometimes used in patients with NF2 rely on stiff electrodes that struggle to conform to the curved surface of the cochlear nucleus in the brainstem. That limits their effectiveness to modest benefits, typically providing only basic sound awareness to aid lip reading. The design can also cause side effects like discomfort that discourages long-term use.

The novel, soft electrode design was developed using advanced thin-film processing techniques, allowing for closer contact and more precise stimulation. In preclinical tests conducted in Switzerland, two macaques received the implants and underwent several months of behavioural testing. Results showed the animals could consistently distinguish between different patterns of stimulation – which indicated high-resolution auditory perception, a promising sign for eventual human use.

“While cochlear implants are life-changing for many, there remains a group of patients for whom current technology falls short,” said study co-senior author Daniel J. Lee, MD, FACS, Ansin Foundation Chair in Otolaryngology at Mass Eye and Ear. “Our research lays the groundwork for a future auditory brainstem implant that could improve hearing outcomes and reduce side effects in patients who are deaf and do not benefit from the cochlear implant.”

Source: Mass Eye and Ear

Categories : CancerTags :

South African Study Identifies Two New Breast Cancer Genes in Black Women

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Genetic factors contribute to some 30% of breast cancer cases in SA, necessitating investment in genomic research in African contexts.

Photo by National Cancer Institute

A seminal genetic study published in Nature Communications has discovered two genetic variants linked to breast cancer in black South African women, deepening knowledge about the genetic basis for this disease in African populations.

The genome-wide association study (GWAS) of breast cancer is the first to have been done in African women living on the continent.

A GWAS is a powerful research method that scans the entire DNA of many people to find genetic differences associated with a specific disease or trait.

In this case, the scientists at the Sydney Brenner Institute for Molecular Bioscience (SBIMB) scanned for breast cancer and found consistent genetic patterns in black South African women.

The SBIMB researchers discovered genetic signals around the gene RAB27A, a member of the RAS oncogene family, and USP22, a gene which is highly active in breast cancer cells and associated with a poor health prognosis.

“These genes have not been associated with the disease before, which is an important advance in understanding breast cancer risk and biology in women of African ancestry,” says Dr Mahtaab Hayat, the lead author of the study.

The two new genetic variants were identified in black South African women with breast cancer enrolled in the Johannesburg Cancer Study, compared to women without cancer in the Africa Wits-INDEPTH Partnership for Genomic Research (AWI-Gen) study.

Until now, most breast cancer genetics research has focused on European and Asian populations, with studies of African ancestry limited primarily to African- American women, who largely descend from West African populations.

A tool that estimates lifetime cancer risk based on DNA, the polygenic risk score (PRS), performed poorly in distinguishing South African women with breast cancer from those without.

“This is because most PRSs were developed in European populations, and their inaccuracy in African populations highlights the urgent need for ancestry-specific tools in cancer risk prediction,” says Dr Jean-Tristan Brandenburg, also in the SBIMB and a lead author.

Breast cancer is the second most common cancer in South Africa and the most common cancer in women globally, with genetic factors contributing to about 30% of cases. “Our study makes a compelling case for investing in genomic research rooted in African contexts,” notes Hayat.

The potential for precision medicine

If further studies confirm these findings, the USP22 and RAB27A genes could be specific targets for new drugs. “We could potentially target harmful cancer cells while sparing healthy tissue, which is ideally what we want when administering cancer treatment,” says Distinguished Professor at the SBIMB, Chris Mathew, and a lead project investigator.

Furthermore, if a specific gene is associated with poorer survival, it can be used as a biomarker to identify more aggressive cancers and help predict which patients may need more intensive treatment and monitoring.

Understanding the genetic architecture of complex diseases helps scientists figure out the biological processes leading to these conditions and find drug targets and treatments for groups of individuals with similar disease risk profiles.

Genomic diversity in Africa is unparalleled

African populations have more genetic variation than any other population in the world, but they have been significantly underrepresented in genomic research. This means that the global understanding of disease risk, and the tools and treatment developed from it, is limited.

“The study reveals that more people can benefit from genetic discoveries. It proves that new risk factors are still out there, waiting to be found,” says Hayat.

Source: University of the Witwatersrand