Health
Researchers find sources of four brain disorders, which could lead to new treatments
Researchers may have found a new way to target the sources of certain brain disorders.
In a study led by scientists at Mass General Brigham, deep brain stimulation (DBS) was able to pinpoint dysfunctions in the brain that are responsible for four cognitive disorders: Parkinson’s disease, dystonia (a muscle disorder condition that causes repetitive or twisting movements), obsessive compulsive disorder (OCD) and Tourette’s syndrome.
The discovery, published in Nature Neuroscience on Feb. 22, could potentially help doctors determine new treatments for these disorders.
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The study included 261 patients worldwide — 70 had dystonia, 127 were Parkinson’s disease patients, 50 had been diagnosed with OCD and 14 had Tourette’s syndrome.
The researchers implanted electrodes into the brains of each participant and used special software to determine which brain circuits were dysfunctional in each of the four disorders.
Deep brain stimulation has been used to pinpoint dysfunctions in the brain that are responsible for four cognitive disorders. (iStock)
“In simplified terms, when brain circuits become dysfunctional, they may act as brakes for the specific brain functions that the circuit usually carries out,” Andreas Horn, M.D., PhD, associate professor of neurology at Brigham and Women’s Hospital, said in a press release.
“Applying DBS may release the brake and may in part restore functionality.”
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Horn, one of the 39 researchers from 16 institutions who co-authored the study, went into more detail in a conversation with Fox News Digital.
“Based on the present findings, we can better understand why deep stimulation to a small subcortical structure in the brain has been helping patients with various disorders,” he said.
The researchers implanted electrodes into the brains of each participant (not pictured) and used special software to determine which brain circuits were dysfunctional in each of the four disorders. (iStock)
For each of the disorders, a different brain network was identified as “dysfunctional,” leading to the condition, the doctor said.
“Identifying these ‘malfunctioning networks’ may help us better understand the four disorders and better target neuromodulation to help patients by alleviating symptoms,” he noted.
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In three cases, the researchers found that applying DBS led to “preliminary improved results.”
At Massachusetts General Hospital, one female patient in her early 20s was diagnosed with severe, treatment-resistant OCD.
After receiving electrode implantation and targeted stimulation, the researchers measured a “significant improvement” in her symptoms one month after treatment, according to the release.
Obsessive-compulsive disorder was one of the cognitive conditions targeted in the new study. (iStock)
Dr. Shannon Dean, a pediatric neurologist with the Kennedy Krieger Institute in Maryland, was not involved in the study but shared her reaction to the findings.
“This study is an elegant demonstration of how treatment-focused and basic mechanism-based research can help guide each other,” she told Fox News Digital.
“The authors used deep brain stimulation electrodes, which is an invasive surgical treatment for a variety of neurological disorders when medications alone are not enough,” Dean went on.
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“I was interested to see the researchers then used their findings to refine exactly how they were treating several patients — and saw their patients’ symptoms improve as a result,” she said.
Given the small number of participants, Dean stressed the need for caution in interpreting the results.
“What the authors found for those disorders will need to be replicated for us to be sure the conclusions are right,” she said.
“However, what they have found is exciting and makes sense based on what we already know about these disorders. This points us to where future studies should be looking.”
For each of the disorders, a different brain network was identified as “dysfunctional,” leading to the condition, a researcher said. (iStock)
“This research provides hope for people living with these diseases who are resistant to standard medical therapy,” she added.
Dr. Arif Dalvi, a neurologist on staff at St. Mary’s Medical Center in Florida, also commented on the study as an outside expert.
“Even though deep brain stimulation has been part of the standard of care for neurological conditions such as Parkinson’s disease and tremors for decades, the technology continues to evolve,” he told Fox News Digital.
“This research provides hope for people living with these diseases who are resistant to standard medical therapy.”
“This analysis identified ‘sweet spots’ within these circuits that could significantly alleviate symptoms, demonstrating the efficacy of DBS in modulating neural activity.”
The findings highlight the need for personalized therapies, Dalvi noted.
“This emphasizes a need for neurologists to carefully evaluate each patient as a unique individual and tailor a specific treatment plan, rather than working off generic best practices or therapeutic guidelines,” he said.
Study was limited, researchers say
This research is seen as the first step in what will be a long process, Horn said.
“The study is based on retrospective data — main results should be confirmed by prospective trials, which represent the gold standard to accumulate evidence in science and medicine,” he told Fox News Digital.
Developing more sophisticated mapping techniques and understanding the long-term effects of deep brain stimulation will be crucial, a neurologist said. (iStock)
The study’s sample size was also relatively small, he said, especially for Tourette’s.
“Even globally, not many patients have undergone deep brain stimulation surgery for this disorder,” Horn said.
This study is the first step in defining what the researchers call the “human dysfunctome,” the set of connections that may become dysfunctional in specific neurological or psychiatric disorders of the human brain.
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“We first paint a picture of the dysfunctome, but need additional data to complete the picture and map other symptoms onto the circuits of the human brain,” Horn said.
While the study findings might not lead to drastic changes just yet, Horn said they may help experienced clinicians fine-tune their approaches to neurology treatments.
The findings from this study point in the direction of more personalized cognitive therapies, experts said. (iStock)
“It could give additional clarity or small refinements here and there to make interventions more successful,” Horn said. “However, the information should not be followed blindly, but instead should be validated in prospective studies.”
The researchers are already starting to plan for clinical trials to validate the results.
As Dalvi pointed out, developing more sophisticated mapping techniques and understanding the long-term effects of deep brain stimulation will be crucial.
“Additionally, expanding this approach to other brain regions and disorders could uncover new therapeutic avenues, marking a new era in the treatment of neurological conditions,” he added.
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Cases of gout are rising in younger individuals, according to a global study.
The condition, which is a type of inflammatory arthritis, steadily increased in people aged 15 to 39 between 1990 and 2021, researchers in China announced.
Although rates vary widely between countries, the total number of young people with the condition is expected to continue rising through 2035.
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The study, published in the journal Joint Bone Spine, investigated 2021 data from the Global Burden of Disease (GBD), spanning 204 countries within the 30-year timeframe.
The data measured gout prevalence, incidence and years lived with disability, tracking global trends over time. The results showed a global increase across all three outcomes.
Gout is expected to continue rising in young people through 2035. (iStock)
Prevalence and disability years increased by 66%, and incidence rose by 62%. In 2021, 15- to 39-year-olds accounted for nearly 14% of new gout cases globally, the study found.
Men from 35 to 39 years old and people in high-income regions had the highest burden, but high-income North America topped the list for highest rates.
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Men were also found to have lived more years with gout due to high BMI, while women tended to have the condition as a link to kidney dysfunction, the study noted.
The total number of cases is expected to increase globally due to population growth, but the study projected that rates per population would decrease.
The researchers noted that data quality, especially in low-income settings, could have posed a limitation to the broad GBD data.
What is gout?
Gout is a common form of arthritis involving sudden and severe attacks of pain, swelling, redness and tenderness in the joints, according to Mayo Clinic. It most often occurs in the big toe.
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The condition occurs when urate crystals accumulate in the joint. These form when there are high levels of uric acid in the blood, which the body produces when it breaks down a natural substance called purines.
A gout flare-up can happen at any time, often at night, causing the affected joint to feel hot, swollen, tender and sensitive to the touch.
Urate crystals, described as sharp and needle-like, build up in the joint, causing intense pain and swelling. (iStock)
Purines can also be found in certain foods, like red meat or organ meats like liver and some seafood, including anchovies, sardines, mussels, scallops, trout and tuna, according to the Mayo Clinic. Alcoholic drinks, especially beer, and drinks sweetened with fruit sugar can also lead to higher uric acid levels.
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Uric acid will typically dissolve in the blood and pass through the kidneys into urine, but when the body produces too much or too little uric acid, it can cause a build-up of urate crystals. These are described by the Mayo Clinic as sharp and needle-like, causing pain, inflammation and swelling in the joint or surrounding tissue.
Risk factors for gout include a diet rich in high-purine foods and being overweight, which causes the body to produce more uric acid and the kidneys to have trouble eliminating it.
Experts urge patients to seek medical attention for gout flare-ups. (iStock)
Certain conditions like untreated high blood pressure, diabetes, obesity, metabolic syndrome and heart and kidney diseases can increase the risk of gout, as well as certain medications.
A family history of gout can also increase risk. Men are more likely to develop the condition, as women tend to have lower uric acid levels, although symptoms generally develop after menopause.
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Untreated gout can cause worsening pain and joint damage, experts caution. It may also lead to more severe conditions, such as recurrent gout, advanced gout and kidney stones.
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The Mayo Clinic advises patients to seek immediate medical care if a fever occurs or if a joint becomes hot and inflamed, which is a sign of infection. Certain anti-inflammatory medications can help treat gout flares and complications.
Fox News Digital reached out to the researchers for comment.
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A new study suggests that annual mammograms may not be the only effective approach for preventing breast cancer.
The research, published in the Journal of the American Medical Association (JAMA), tested a risk-based breast cancer screening approach against standard annual mammography.
The WISDOM randomized clinical trial, led by study authors from universities and healthcare systems across the U.S., considered more than 28,000 women aged 40 to 74 years old, splitting them into a risk-based screening group and an annual mammography group.
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Researchers calculated each woman’s individual risk based on genetics (sequencing of nine breast cancer genes) and other health factors.
A new study suggests that annual mammograms may not be the only effective approach for preventing breast cancer. (iStock)
Those who were at the highest risk were advised to alternate between a mammogram and an MRI scan every six months. Patients with elevated risk were told to get an annual mammography and counseling.
Average-risk women were guided to get mammograms every two years, while low-risk individuals were advised to have no screening until they became higher risk or reached age 50.
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The researchers found that risk-based screening did not lead to more advanced cancer diagnoses (stage 2B or higher) compared with annual screening, indicating that it is just as safe as traditional methods. The risk-based approach, however, did not reduce the number of biopsies overall, as researchers had hoped.
Among the risk-based group of women, those with higher risk had more screening, biopsies and detected cancers. Women at lower risk had fewer procedures.
The research, published in the Journal of the American Medical Association (JAMA), tested a risk-based breast cancer screening approach against standard annual mammography. (iStock)
“[The] findings suggest that risk-based breast cancer screening is a safe alternative to annual screening for women aged 40 to 74 years,” the researchers noted in the research summary. “Screening intensity matched individual risk, potentially reducing unnecessary imaging.”
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Fox News medical contributor Dr. Nicole Saphier, associate professor of radiology at Memorial Sloan Kettering Cancer Center in New Jersey, commented that while these findings are important, the study “completely sidelines” what screenings are designed to do — detect cancer early.
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“If you don’t measure stage 0, stage 1 or stage 2A cancers, you can’t tell whether personalized screening delays diagnosis in a way that matters for survival and treatment intensity,” Saphier, who was not involved in the study, told Fox News Digital in an interview.
Those who were at the highest risk were advised to alternate between a mammogram and an MRI scan every six months. (iStock)
More than 60% of breast cancers in the U.S. are diagnosed at stage 1 or 2A, where cure rates exceed 90%, the doctor noted.
The trial doesn’t “fully evaluate” whether risk-based screening changes detection at the earliest and most treatable stages, where screening “delivers its greatest benefit,” according to Saphier.
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“Mammography is not without risk — radiation exposure, false positives, anxiety and potential over-diagnosis are real and should be acknowledged,” she said. “But it remains the most effective, evidence-based tool for detecting breast cancer early, when treatment is most successful.”
The expert added that labeling women under 50 as “low risk” is “outdated,” as breast cancer diagnoses are on the rise in younger females.
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“Until long-term mortality data support alternative approaches, annual screening beginning at 40 for average risk women should continue,” Saphier added. “Women should be assessed for breast cancer risk by 25 years old to determine if screening should begin earlier.”
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