Author: patienttalk

Posted on Multiple Sclerosis

Does multiple sclerosis play a role in cancer screening and diagnosis?

How Do Women With MS Maintain Their Dignity


 Women with multiple sclerosis (MS) are less likely to have breast cancers detected through cancer screenings than women without MS, according to new research published in the April 27, 2022, online issue of Neurology®, the medical journal of the American Academy of Neurology. Conversely, researchers also found that people with MS are more likely to have colorectal cancers detected at an early stage than those without MS.

“MS can be a debilitating disease and mobility issues may make it difficult for people with MS to get to regular cancer screenings,” said study author Ruth Ann Marrie, MD, PhD, of the University of Manitoba, Winnipeg, in Canada, and a member of the American Academy of Neurology. “We conducted this study because little is known about whether having MS plays a role in getting regular cancer screenings. Early detection and timely diagnosis are important because they can affect a person’s cancer survival.”

For the study, researchers looked at heath care data for 14.8 million people living in Ontario to identify people with breast or colorectal cancer who either did or did not have MS. Researchers identified 351 women with breast cancer and MS and compared them to 1,404 women with breast cancer and no MS matched for age, sex, and date of cancer diagnosis. Similarly, they identified 54 people with colorectal cancer and MS who they compared to 216 people with colorectal cancer and no MS.

Researchers then looked at medical data for study participants. They found that breast cancer was detected by a routine screening in 103, or 29%, of the women with MS, and in 529, or 38%, of the women without MS. After adjusting for age, diagnosis year and income, researchers determined the odds of breast cancer being detected through a routine screening was 32% lower in women with MS.

“Disability from MS increases with age, as does cancer risk, so it is likely that those with MS may find it more difficult to get regular mammograms as they get older,” said Marrie.

Researchers also found that people with MS were twice as likely as people without MS to have colorectal cancer detected at stage one, the earliest stage of cancer.

“There is a high occurrence of bowel symptoms and gastrointestinal disorders in patients with MS, which could lead to shared symptoms with colorectal cancer,” said Marrie. “Increased gastrointestinal exams may help detect colorectal cancer sooner.”

Researchers also found that 21% of the people with MS and breast cancer and 33% of the people with MS and colorectal cancer had a level of disability high enough that required home care services or long-term care. Marrie said, “More research is needed regarding the role of MS-related disability on screenings.”

A limitation of the study was that it did not include the time frame from when a person first noticed cancer symptoms to when they told their doctor. Also, Marrie said people experiencing marginalization due to race or ethnicity have different access to cancer screening, and this may be exacerbated among people with MS. She said race and ethnicity data were not available for this study and should be examined in future research.

Posted on Multiple Sclerosis

A study finds the rate of multiple sclerosis similarly high in different ethnic groups

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The rate of multiple sclerosis (MS) cases varies greatly by race and ethnicity. A new study suggests that the prevalence of MS in Black and white people is similarly high, while much lower in Hispanic and Asian people. The research is published in the April 27, 2022, online issue of Neurology®, the medical journal of the American Academy of Neurology.

“MS has long been believed to be a disease of white people, but the prevalence of MS in Black people has been understudied and therefore underrecognized,” said study author Annette Langer-Gould, MD, PhD, of Kaiser Permanente Southern California in Los Angeles and a member of the American Academy of Neurology. “The findings of our study and other recent studies indicate that MS has affected Black and white adults at similar rates for decades.”

Langer-Gould said, “The belief that MS is rare in Black people has been based on a history of problematic evidence, including a 1950s study of veterans that found white men more likely than Black men to receive services through the Veterans Administration for MS. That study did not consider the barriers and disparities Black men faced in receiving services, and that they were less likely to be measured accurately.”

Langer-Gould also notes that even current research uses the terms Hispanic, Asian, Black, and white, which are socially constructed labels that influence social standing and opportunities for advancement in the U.S., not uniform biological or even cultural differences. She said it’s crucial that new research addresses systemic bias in medical research.

This new study looked at more than 2.6 million adults residing in Southern California. Researchers analyzed Kaiser Permanente health records to determine how many people had a confirmed diagnosis of MS in 2010.

Researchers identified 3,863 people with MS. The average age was 52 and 77% were women.

Researchers found that MS prevalence per 100,000 people was similarly high for Black and white people, occurring in 226 per 100,000 Black people and in 238 per 100,000 white people. MS prevalence was lower among Hispanic and Asian people, occurring in 70 per 100,000 Hispanic people and 23 per 100,000 Asian people.

The percentage of women with MS was more pronounced among Black and Asian people. Of Black people with MS, 82% were women and of Asian people, 84% were women. Of white people with MS, 76% were women and of Hispanic people, 75% were women.

“Understanding MS prevalence in all people has important implications when it comes to making sure people are properly screened and treated for this disease,” said Langer-Gould.

“More studies are needed to determine whether MS is also an emerging disease among Hispanic people in the U.S. and whether MS susceptibility and prevalence vary among Hispanic or Asian individuals from different cultures and ancestral backgrounds,” Langer-Gould added. “Larger studies are also needed that look at bigger populations across the U.S.”

Posted on Autism

Almost 90% of autistic women report experiencing sexual violence, often on multiple occasions

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As many as nine out of 10 autistic women in France report have suffered sexual violence, shows a new study in Frontiers in Behavioral Neuroscience. This is one of the largest studies to date focused specifically on this population. In contrast, previous research has shown that the rate of sexual aggression against non-autistic women is one in three, suggesting that offenders are three times more likely to target autistic women. The results also revealed that most victims had been assaulted multiple times, that this began when they were young and that they were rarely able to report the abuse or receive care. These findings will guide better prevention and treatment programs. 

“This research project was started by the study’s co-authors (Dr David Gourion, a psychiatrist, and Dr Séverine Leduc, a neuropsychologist) who have observed in their practice that autistic women and non-binary persons were more often victims of sexual violence than other categories of patients,” said co-first author Dr Fabienne Cazalis, of the social sciences division at the French National Center for Scientific Research (CNRS-EHESS). “This is important because symptoms of sexual trauma can be overlooked in individuals with autistic traits, leading to those individuals not receiving the care that they need. We hope that this research will help autistic persons who have been victims of sexual violence receive better understanding and better care.”

A vulnerable population

Cazalis and her collaborators used an online questionnaire to survey the experiences of 225 autistic women who volunteered to participate (of all ages over 17). This study was instigated and completed in collaboration with the local autistic community, which was instrumental in recruiting the relatively high number of participants.

“When Gourion and Leduc began the study, research was still a little scarce on this specific subject, but the topic was nevertheless very much discussed within the autistic community,” explained Cazalis. “Advocates from this community were actually the ones drawing our attention to the importance of studying this subject and, when the study was started, they were the ones raising awareness about it within the autistic community, leading to a vast participation in a short time.”

The survey included both an open question as well as specific questions. Based on this design, there was some variation in reporting, with the open and specific questions identifying abuse in 68.9% and 88.4% of the women, respectively. This highlights the importance of survey design in helping victims receive treatment.

Improving prevention and care

Through the questionnaire, the team also found that 75% of participants had been assaulted multiple times. Of the victims, two-thirds were first abused when they were 18 or under, and this correlated with an increased risk of developing post-traumatic stress disorder. Only one-third of the victims reported the assaults and, of these, there was no follow up action in response to 75% of these reports (either in the form of treatment or prosecution).

Because of the young age of most victims at the time of first assault, the authors suggest that education strategies may not be the most effective means of prevention. Instead they support large-scale programs to reduce systemic sexual violence and gender inequality, as proposed by the World Health Organization and the US Center for Disease Control.

Cazalis acknowledged the risk of selection bias in the study, but highlighted the strength of the results.

“Persons who have been victims of sexual violence might have been be more willing to participate in the study than individuals who have not been victims, leading to an overrepresentation of victims, but we believe that this bias might not be too strong, since our results are very consistent with those of previous studies,” said Cazalis.

“We expect clinicians and professionals to acknowledge the importance of investigating potential sexual victimization when working with women and non-binary persons on the spectrum,” she added. “We also wish that this study contributes to improve general awareness about sexual violence, in order to help prevent it whenever possible.”

Posted on Autism, Epilepsy

Zeroing in on a new treatment for autism and epilepsy

Scientists at Gladstone Institutes


Scientists at Gladstone Institutes reports new findings that could guide the development of better therapeutic strategies for Dravet syndrome and related conditions. Shown here are the study’s first authors, Eric Shao (left) and Che-Wei Chang (right). CREDIT Photo: Michael Short/Gladstone Institutes

Children with Dravet syndrome, a severe form of epilepsy that begins in infancy, experience seizures, usually for their entire life. They are at high risk of sudden unexpected death in epilepsy (SUDEP) and can also develop intellectual disability and autism. Available treatments typically fail to improve these symptoms.

Now, a group of scientists at Gladstone Institutes led by Lennart Mucke, MD, reports new findings in the journal Science Translational Medicine that could guide the development of better therapeutic strategies for Dravet syndrome and related conditions.

The researchers previously discovered, in a mouse model of Dravet syndrome, that genetically removing the protein tau from the entire body during embryonic development reduces epilepsy, SUDEP, and autism-like behaviors. In the new study, they pinpoint the key cell type in the brain in which tau levels must be reduced to avoid these problems. They also show that lowering tau is still effective in mice when the intervention is delayed until after their birth.

“Our findings provide new insights into the cellular mechanisms by which tau reduction prevents abnormal overexcitation in the brain,” says Mucke, director of the Gladstone Institute of Neurological Disease. “They are also encouraging from a therapeutic perspective, since in humans, initiating treatment after birth is still more feasible than treating embryos in the womb.”

Tau is a promising therapeutic target not only for Dravet syndrome, but also for a variety of other conditions, including different types of epilepsy and some forms of autism, as well as Alzheimer’s disease and related neurodegenerative disorders.

Pinpointing the Crucial Brain Cells

A well-functioning brain depends on the correct balance between the activity of excitatory and inhibitory neurons—the former stimulate the activity of other neurons, while the latter suppress it. Dravet syndrome causes an imbalance between these types of cells, resulting in abnormally high and synchronized activity in brain networks that can manifest as seizures and other symptoms.

Mucke and his colleagues recently showed that removing tau from the entire brain changes the activities of both excitatory and inhibitory neurons, although in different ways. The current study aimed to determine whether it is more important to reduce tau in excitatory or inhibitory neurons.

For this purpose, the scientists used genetic tools to eliminate tau selectively from one or the other cell type in the Dravet mouse model. They found that removing tau from excitatory neurons reduced disease manifestations, whereas removing tau from inhibitory neurons did not.

“This means that tau production in excitatory neurons sets the stage for all these abnormalities to occur, including autistic behaviors, epilepsy, and sudden unexpected death,” says Mucke, who is also the Joseph B. Martin Distinguished Professor of Neuroscience and a professor of neurology at UC San Francisco.

Initiating Treatment after Birth

While the genetic approaches the scientists used to remove tau from specific cell types are effective and precise, they are not yet easy to use as a therapeutic intervention in humans. So, the team turned to a more practical option: global tau reduction in the brain with DNA fragments known as antisense oligonucleotides, or ASOs. The scientists delivered an anti-tau ASO into the brain of mice 10 days after birth and found that most symptoms of Dravet syndrome were gone 4 months later.

“We observed a robust reduction of SUDEP, seizure activity, and repetitive behaviors,” says Eric Shao, PhD, a scientist in Mucke’s lab and first author of the study.

In addition, the ASO treatment had no obvious side effects.

“We are excited about these findings, especially since another anti-tau ASO has already undergone a Phase I clinical trial in people with Alzheimer’s disease,” says Mucke. “It could be useful to consider this strategy also for Dravet syndrome and related conditions. However, defining the optimal timing for treatment initiation will be key, as the window of opportunity might be quite narrow.”

Although Alzheimer’s disease, epilepsy, and autism have diverse causes, they all seem to be associated with abnormally high ratios between excitatory and inhibitory neuronal activities—and this abnormality could potentially be fixed by tau-lowering therapeutics.

Still, a treatment based on anti-tau ASOs would involve repeated spinal taps, a procedure most people would rather avoid. Therefore, Mucke is partnering with Takeda Pharmaceuticals to develop small molecules that could reduce brain tau levels when administered as a pill.

Posted on Diabetes

Living near fast food restaurants in South Asia may increase risk of Type 2 diabetes

Living near fast food restaurants in South Asia may increase risk of Type 2 diabetes


Researchers find living near fast food restaurants in South Asia may increase risk of Type 2 diabetes CREDIT Yalinda De Almeida

Globally, the prevalence of type 2 diabetes mellitus (T2DM) is increasing. A study publishing April 26th in the open access journal PLOS Medicine by Marisa Miraldo at Imperial College Business School, London, United Kingdom, and colleagues suggests that living near fast food restaurants increases the risk of developing Type 2 diabetes.

Food environments have an impact on diet and obesity-two risk factors for T2DM. However, the relationship between food environments and diet in low- and middle-income countries is poorly understood. To examine the associations between the density and proximity of healthy and unhealthy food outlets and diabetes, researchers linked cross-sectional health data with environment mapping surveys for 12,167 people living in Bangladesh and Sri Lanka from 2018-2020. They collected self-reported diabetes diagnosis histories and fasting blood glucose levels from residents of urban and rural districts. The researchers then mapped the food environment, collecting data on location and types of food retailer available within 300 meters of each participant’s home, categorizing each type of food outlet as healthy or unhealthy.

The researchers found that a higher density of fast food outlets near an individual’s home was associated with an 8% increase in their probability of a diabetes diagnosis. Having at least one fast food retailer in the proximity of one’s home was associated with 2.14 mg/dL blood glucose increase. Additionally, women and high-income earners were more likely to have higher diabetes mellitus levels. The study was limited by several factors, including the self-reported data on diabetes diagnoses. The study also did not account for the actual diets of participants, which may have been sourced far from their homes, and may be confounded by other variables associated with diabetes. Future studies are needed to validate and expand on how food environments may impact individuals’ diets and health.

According to the authors, “Our results show interventions targeting the environment may be effective in preventing diabetes, however, the heterogeneity of the effects found in our analysis suggests that more specific interventions may be needed. One-size-fits-all built environment interventions have not led to improved outcomes and future research is needed to evaluate which food environment interventions could improve diabetes outcomes in this geographical region and population”.

“In South Asia diabetes affects 1 in 11 adults and causes 747,000 preventable deaths per year,” Miraldo adds. “Our research shows living in proximity to at least one fast food outlet is associated with a 16% increase in the chance of being diagnosed with diabetes. With the number of people with diabetes in Southeast Asia projected to reach 113 million by 2030, it is imperative food and beverage companies and retailers step up their sustainability agendas to promote better diets and prevent diabetes.”