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nuadox · 1 month

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World’s largest epilepsy study reveals ‘genetic architecture’ and points to new therapies

- By Luciana Constantino , Agência FAPESP -

Considered the largest genetic study of epilepsy in the world, a study published in the journal Nature Genetics reveals specific alterations in DNA that signal a greater risk of the brain disorder.

Identifying these alterations will improve diagnosis and advance the possibility of new treatments for the disease.

The researchers identified 26 different areas (loci) of the genome that are linked to epilepsy, with 29 genes thought to play an important role in the disorder. Of these genes, 17 were associated with epilepsy for the first time; ten are linked to the development of the disease when mutated or altered (known as monogenic epilepsy genes) and the other seven are known to already have approved drugs that focus on treating autism spectrum disorders.

Analysis of the subtypes revealed significantly different “genetic architectures” mainly between two subtypes of epilepsy – focal and generalized – and common variations in DNA can explain between 39.6% and 90% of the genetic risk for the latter type.

Coordinated by a consortium of the International League Against Epilepsy (ILAE) involving more than 350 scientists, the study compared data from 29,944 people with the disease to those of 52,538 control subjects. It included epilepsy cases of European (92%), African (3%) and Asian (5%) descent.

Brazil was the only Latin American representative through the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a FAPESP Research, Innovation and Dissemination Center (RIDC) based at the State University of Campinas (UNICAMP).

“We at BRAINN were involved in all stages of the work, from the detailed characterization of the patients from a clinical, imaging and neurophysiological point of view – which we’re very good at – to planning the analyses, suggesting how they could be carried out and then checking the results. We were also actively involved in writing the article, which was submitted to the journal over a year ago. Many international studies exclude patients from Brazil because we have such great genomic diversity. However this study did a meta-analysis, which allows us to combine populations with different genomic structures. For the future, we want to expand this diversity even more,” Iscia Teresinha Lopes-Cendes, a professor at UNICAMP’s School of Medical Sciences and co-author of the BRAINN article, told Agência FAPESP.

There are an estimated 2 million Brazilians with epilepsy, at least 25% of whom are uncontrolled, according to the Ministry of Health. Worldwide, the World Health Organization (WHO) estimates that 50 million people are affected by the disorder, a third of whom are resistant to the treatments available on the market.

A highly hereditary neurological disease with no cure, epilepsy causes seizures, up to 40 or 50 a day in the most severe cases, leading to loss of consciousness and falls. Uncontrolled seizures not only disrupt the patient’s daily routine but also pose a serious risk of sudden and premature death.

Treatment involves a combination of medications, which are not always effective. Most medications reduce the activity of neurons across the board, which controls seizures, but they have side effects. An alternative is surgery to remove the part of the brain affected by the malformation.

Now, the researchers are proposing some medications that are normally used for other conditions, but act on the epilepsy risk genes identified in the study.

Knowledge over time

Recognizing the complexity of the genetic and environmental factors related to epilepsy, the consortium was formed in 2010 to collaborate on investigating large datasets at an international level.

“This is an important milestone for the ILAE Consortium on Complex Epilepsies and shows what can be achieved when scientists collaborate openly and share data from around the world,” said the league’s president, Professor Helen Cross, in a press release.

To arrive at the results suggesting different genetic architectures between focal and generalized forms of epilepsy, genetic data were combined with databases of phenotypic information, expanding the sample to more than 51,600 patients and 1 million “controls.” This discovery of the different genetic framework for the different types of epilepsy provides clues to understanding the various syndromes.

In their work, the scientists point out that the proteins that carry electrical impulses through the gaps between the brain’s neurons are part of the risk for generalized forms of epilepsy. In this sense, they emphasize the importance of accurately characterizing or classifying specific epileptic syndromes (syndromic phenotyping) in order to better understand the genetic basis of the disease.

An advocate of studies with so-called “pure data,” Lopes-Cendes says that she is now working specifically on mesial temporal lobe epilepsy (MTLE) with hippocampal atrophy. “We’ve been continuously generating data for specific research on the topic. I’d argue that in certain studies, mixing information from different types of epilepsy can ’dilute’ the data and not highlight results that might appear if the group of patients studied was more homogeneous. I think a balance is needed,” she adds.

In early 2023, the researcher and her group published another article that deepened our understanding of MTLE, considered the most common and refractory to pharmacological treatment, by evaluating, for the first time, the profile of messenger RNA (mRNA, a molecule that contains the information for the production of proteins) from surgical tissue obtained from patients.

Because of her work in genetics, Lopes-Cendes was recently invited by the WHO to join the new Technical Advisory Group on Genomics (TAG-G), which is responsible for contributing to the process of accelerating access to genomic knowledge and technologies, especially in low- and middle-income countries. The group consists of 15 scientists from different countries.

The article “GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture” can be read at: www.nature.com/articles/s41588-023-01485-w.

This text was originally published by FAPESP Agency according to Creative Commons license CC-BY-NC-ND. Read the original here.

Read Also

For epilepsy sufferers, cutting-edge technology offers early alerts of seizures

#epilepsy #health #medicine #genomics #seizures #seizure #brain #neuroscience #medtech #health tech #brazil

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todayhealthyknowledge · 3 months

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Can i lose weight by dieting only

Embarking on a weight loss journey is a common goal for many individuals worldwide. The question that often arises is, "Can I lose weight by dieting only?"

This comprehensive article explores the effectiveness of weight loss through dietary changes alone, shedding light on its possibilities, challenges, and the key factors that contribute to success. Continue reading

#health #health is wealth #health tech #health services #health science #health journey #health blog #health & fitness #health benefits #health news #weight loss #weight lifting #weight loss journey #fat loss #exercise #weight goals #weightloss #weight mention #weight management

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queercripintersex · 1 year

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*groans in genderqueer intersex*

#health tech #whyyy

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rn3dstore · 1 year

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#health tech #smart tech #wearable technology #health informatics #nursing student #bluetooth #circuitry #stem toys #nursing

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ausetkmt · 1 year

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Medical News Today: Racism and discrimination are public health threats, experts warn

When acknowledging the impact racism can have on health, it is important to remember that less than a century ago racist ideas were given legitimacy by scientific and medical communities in Western countries.

While Charles Darwin is held up as a symbol of rationality and scientific progress, it is important to note that his theory of evolution by natural selection in the Origin of Species published in 1849, was appropriated by eugenicists.

Eugenicists arguedTrusted Source for the selective breeding of humans with the aim of improving the heritable traits in a population.

Originally, these ideas claimed that people on low incomes had lower mental capabilities and morals, and that preventing these people from being able to reproduce would prevent these traits from being passed on, allegedly improving the human gene pool.

These ideas were quickly applied to preexisting ideas of racial categories of humans, with impacts on the health of people of different racial and ethnic backgrounds, which we are still seeing today.

This is just one of the topics highlighted in a recent series of papers published in The LancetTrusted Source, which explores the role racism has played in health outcomes globally.

Written by a group of scientists at University College London in the United Kingdom, the papers explore the different ways in which racist ideas and practices have infiltrated science and medicine and caused harm. Racism, they state, is a threat to public health.

To drive the point home, the authors explain that their own workplace, University College London, was once the home of “racist pioneers” Francis GaltonTrusted Source and Karl Pearson, whose work started to document human differences in an attempt to categorize certain traits.

Some scientists and theorists have applied these ideas to the concept of humans belonging to different races that had existed for over 100 years prior to that, which had been used to uphold first colonialism by Europe of other countries, and then neocolonialism.

The series of articles goes on to provide numerous examples of people being mistreated by doctors and scientists for racist and xenophobic reasons, from the Tuskegee Study of Untreated SyphilisTrusted Source in Black men, through to more recent COVID-19 vaccine inequity.

It also explores the reasons why scientists worldwide upheld the notion of “othering” some groups for so long, and why they were able to do so for so long.

When asked by Medical News Today why the series was being published now, lead author Prof. Delanjathan Devakumar, professor of global child health and honorary consultant in public health at University College London told us in an email that there was no particular reason to publish the series now, as the problem is long-existing and ongoing.

He said:

The COVID-19 pandemic both exacerbated and revealed much of the divisive politics that define our era, as well as the inequities racist politics can cause.

Black, Hispanic, Asian, American Indian, and Pacific Islander people have been disproportionately more likely to become infected with SARS-CoV-2, or die from the infection in the United States to date. This trend continued globally.

These differences were picked up quickly, and research into their causes was initially inconclusive. While socioeconomic factors and comorbidities explained some of the differences in infection and death rates that were observed, they did not explain all of them, and theories abounded.

One of the most contentious theories that arose initially blamed skin color, claiming that vitamin D deficiencies were to blame for the higher infection and death rate in people of color living in areas where deficiency was prevalent among these groups. This notion has since been disproven.

One doctor who carried out research in the earlier days of the pandemic into these racial inequities was Prof. Ladan Golestah, a professor of nephrology at the Albert Einstein College of Medicine working in the Bronx during the first surge of COVID-19, in the spring of 2020.

She told MNT in an interview: “I think we were kind of struck by how overwhelmingly it kind of […] took over all of our realities. And I think part of the problem was there was so much death, honestly […] So many bad outcomes [resulted] out of that initial COVID surge that we were, we felt, powerless.”

She, along with her colleagues decided to use the data they had available to try to “lay bare what was happening and what was behind it.”

Their research eventually appeared in eClinical Medicine, and showed that all-cause mortality rates were 60% higher for Black people than white people during the first COVID-19 surge, and this was “incompletely explained by age, multiple reported comorbidities and available metrics of sociodemographic disparity.”

Looking back, she says she realized what was “hidden in plain sight” was the scale of undiagnosed comorbidity which led to much worse health outcomes for Black people.

This was due to a lack of access to healthcare due to the financial barriers which were disproportionately experienced by this group.

COVID-19 had in turn resulted in more trauma, and physical damage to these groups of people, further exacerbating those inequities. The introduction of telemedicine also exacerbated some groups’ ability to access healthcare, she explained.

However, even where some financial barriers to healthcare access were removed, for example for National Health Service (NHS) patients in the U.K., the COVID-19 pandemic revealed other barriers.

In the U.K., People’s COVID Inquiry, run via the NHS campaign Keep Our NHS Public, heard back in March 2021 that the initial responses to COVID-19 infection in people of color were inadequate.

Lobby Anikola, of the COVID-19 Bereaved Families for Justice group, told the People’s COVID Inquiry — 57 minutes into the video — that “there were many inequalities that people were already aware of, and now these inequalities are costing the lives of people of color.”

“There is also the concern of how appropriate [and] how able the medical service are to diagnose and treat medical conditions in Black bodies,” says Anikola.

In his statement, he points out that when calling emergency helplines during the first wave of COVID-19, people were asked if they had “blue lips,” a symptom of lack of oxygen in the blood in white people, but one that is less obvious in people with darker skin, meaning that many remained at home when they needed to seek urgent medical treatment.

Pulse oximeters had also been shown to fail to pick up hypoxia in people with darker skin, as they had been designed for use on white people, a study published in BMJ showed.

The COVID-19 pandemic is a global issue, and the inequities have not just been felt by people of different ethnic and racial backgrounds who live in the U.S. or Europe, but also by individuals living in low- and middle-income countries.

While the health systems of wealthy countries had been overwhelmed by the first wave of COVID-19, their wealth meant they were much better placed to design, develop and make vaccines to target the SARS-CoV-2 virus.

Large-scale vaccine campaigns took place in the U.S. and Europe, but low- and middle-income countries were left behind.

In 2021, the World Health Organization (WHO) set a target for 70% global vaccinationTrusted Source coverage by mid-2022. As of June 2022, only 58 of WHO’s 194 member states had achieved this, and just 37% of healthcare workers had received a complete course of primary vaccination in low-income countries.

“There was hoarding by the North American and Western European countries,” Dr. Peter Hotez, co-director of the Center for Vaccine Development at Texas Children’s Hospital, told MNT.

“That was one issue. The second issue was there was an upstream science policy failure, providing too much emphasis on speed and innovation, and not enough downstream to be able to make vaccines locally in low and middle-income countries,” he noted.

The world had “paid heavily” for this mistake, as it opened the door for new virus variants to emerge, he argued.

“Delta arose out of an unvaccinated population [in] early 2021. And then Omicron — it emerged from an under-vaccinated population in Africa, later in 2021. And so it got into this mess that we’re in today. So, vaccine equity is not simply a question of equity, [it] is fundamental to pandemic control,” explained Dr. Hotez.

Not all was lost however, he said, as there is now an opportunity to ensure that vaccine equity is achieved for low- and middle-income countries for vaccines for emerging variants, he suggested.

He is not the only one to point to potential opportunities to improve the situation. While health inequities due to race, xenophobia, and colonialism are stark, some feel the recent focus on the issue has highlighted areas where improvements could be made.

Dr. Golestah said:

The Lancet series itself argues that if policy based on racist structures got us into the current situation, then appropriate, well-designed health policy could get us out of it, and eventually remove racial health inequities.

As Dr. Hotez added: “Remember, COVID-19 is our third major coronavirus pandemic of the 21st century, we’ve had SARS and MERS. And now COVID-19.” Other epidemics or pandemics may emerge soon, he believes.

In this context, “[w]hat we really need to address is equity, and not only to have equity but recognize that it’s essential to global public health preparedness,” said Dr. Hotez.

“I mean, often it’s framed purely as humanitarian grounds, which of course, is important in our motivations at our labs. But it’s not only a humanitarian gesture, it’s far more than that it’s front and center of pandemic preparedness.”

#Pulse Oxyometers #racist Tech #Health Tech #Racism and discrimination are public health threats #experts warn #Black Health Matters #Black Lives Matter #Global Health

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healthestingsolutions · 1 year

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Mobile Health Testing

In the US, HTS offers clients a broad array of mobile occupational health services to advance health and safety. Contact us for assistance with health tests.

#Mobile Health Testing #health #health testing #health tech

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medusapetrichor · 1 year

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semi recently i was precomatose in the icu because of an automated technical malfunction and when i mentioned this to one of my medical team the other day he was like "you seem pretty unbothered at that", and my thought was well it's not like it was a design flaw or anything so what's the point being bothered if i a) have nobody to be bothered at and b) am glad and happy to have survived so why shouldn't i celebrate that instead of moping (however this is my attitude towards myself, other people are a completely different matter)

anyway this is going to be an increasingly interesting train of thought/conversation to be had at some point, the more we become reliant on tech, algorithms and ai in general in our lives and infrastructure

at some point things will happen where blame needs to be placed and i feel like we should start thinking about that earlier rather than when it inevitably happens on a large scale

#health tech #tech reliance #tech ethics #ai #corporate ai #voice assistance services #self driving vehicles #look at me dreaming about justice over here #disability tumblr #disability #chronic illness #autonomous vehicles #lukewarm takes

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magnificentfunyouth · 2 years

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The best part of beauty is that which no picture can express.

See How to Increase Your Beauty Fast>>

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sunshine-and-sprinkles · 2 days

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My blood sugar has been consistently spiking around 8:30-9:00pm for the last week (at least??) and I keep thinking my pump would for sure have recognized and adjusted for that by now but it just keeps happening 😫 I’m doing really well mental-health-wise not having to micro-manage my blood sugar but I was doing a lot better numbers-wise when I was!

#t1d #t1diabetic #t1diabetes #t1d problems #omnipod #insulin pump #type 1 diabetic #type 1 diabetes #type 1 problems #omnipod 5 #diabetes tech #health tech #stupid blood sugar #stupid pancreas #just do what you’re supposed to do #high blood sugar #hyperglycemia

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cbirt · 7 months

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Hypertension has long been known to be a causative factor for a multitude of medical ailments. Hypertension has further been noticed to have significantly increased in recent years, posing a public health concern. While medical costs and inconvenience may deter potential patients from seeking frequent blood pressure monitoring, new advances in wearable medical devices have made it possible to measure blood pressure cheaply and conveniently from the comfort of one’s home. Tsinghua University, China, researchers designed a wearable device and a novel blood pressure measurement technique for continuous monitoring. The wearable device can be generalized across individuals and has considerable promise in personal healthcare applications.

Hypertension is a medical ailment that has received significant scrutiny over the past few decades. A condition wherein the arterial blood pressure is higher than normal over a long period of time, it has been implicated as a significant risk factor in conditions such as heart failure, strokes, and atrial fibrillation, among others. Lifestyle and genetic factors greatly increase the risk of having high blood pressure, and it has been noted to be a cause of premature death all over the world.

We can see that the measurement of blood pressure regularly can have significant positive impacts by letting individuals know about irregularities in a timely and convenient manner. Wearable medical devices also eliminate other factors in the mismeasurement of blood pressure, including human error and blood pressure variability in various settings. Ambulatory monitors have been developed for this purpose, which can be used to measure blood pressure at certain intervals, but even these cannot provide continuous measurement of blood pressure and prove to be inconvenient to the user since they often need to be used at a frequency of once every 15 to 30 minutes, and interrupt the progression of daily life.

#health #health tech #hypertension #blood pressure #machine learning #bioinformatics #medical informatics #cardiovascular disease

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innonurse · 3 months

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Researchers evaluate a new imaging technique for monitoring intermediate uveitis, a rare eye illness

- By InnoNurse Staff -

Uveitis, a rare inflammatory eye condition, is responsible for approximately 5% to 10% of blindness worldwide. Intermediate uveitis is frequently associated with a long course of the disease and the necessity for immunosuppressive medication. Intermediate uveitis primarily causes inflammation of the vitreous body, although it can also reduce blood supply to the retina.

Read more at University of Bonn/Medical Xpress

#uveitis #medtech #health tech #imaging #ophthalmology #eyes #eye #blindness #inflammation

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nuadox · 2 years

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The first full connectivity map of the human immune system

- By Nuadox Crew -

Wellcome Sanger Institute researchers have conceived the “first full connectivity map of the human immune system”. Its is showing how immune cells communicate with one another and “ways to modulate these pathways in disease”.

A first of its kind comprehensive map of the network of connections that make up the human immune system has been created, which could lead to new immunotherapies to treat cancer, infectious diseases, and other conditions where immune responses play a role.

In creating the immune system map, scientists from the Wellcome Sanger Institute, ETH Zürich and collaborators show how immune cells across the body link up and communicate.

This research, published today (3 August 2022) in Nature, includes the discovery of many previously unknown interactions that together shed light on the organisation of the body’s immune defences. This offers answers to longstanding questions about current immunotherapies that are already used to treat patients. In the future, this public and detailed immune system map could also be vital in identifying new therapies.

The immune system is made up of specialised cells, some of which individually travel through the body to scan for signs of injury or disease. Once these cells detect a threat, they need to communicate the message to other cells in order to mount an effective immune response. One way this cell-to-cell signalling is done is through proteins on the surfaces of cells that bind on to matching ‘receptor’ proteins on the surfaces of other cells. Previously, scientists and clinicians only had an incomplete map of these receptor connections between all of the different types of immune cells in the body.

An in-depth understanding of the interactions between immune cells, and how this communication fits into the human body as a whole, is vital if we are to develop treatments that enhance the immune system in order to fight disease, known as immunotherapies.

Source: Wellcome Sanger Institute

Full study: A physical wiring diagram for the human immune system, Nature.

https://doi.org/10.1038/s41586-022-05028-x

Read Also

Turning mammalian cells into biocomputers

#immune system #genomics #medtech #health tech #dna #immunotherapy #medecine #biology #health

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prismmediawire · 3 days

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SS Innovations International Announces Q1 2024 Company Updates

Significant milestones achieved for SSi Mantra Made-in-India surgical robotic system

FORT LAUDERDALE, FL, April 22, 2024 - SS Innovations International, Inc. (the "Company" or "SS Innovations") (OTC: SSII), a developer of innovative surgical robotic technologies dedicated to making world class robotic surgery affordable and accessible to a global population, today announced its Q1 2024 Company updates.

As of March 31, 2024, SS Innovations has completed a total of 32 successful installations of the SSi Mantra Surgical Robotic System in medical facilities across India. In addition, four cardiac surgery programs have been launched utilizing the SSi Mantra for the full spectrum of robotic cardiac surgeries. For the quarter ended March 31, 2024, SS Innovations sold 8 SSi Mantra Surgical Robotic Systems and expects to report revenues of approximately US $7 million, which exceeds revenues reported for the entire year ended December 31, 2023. Of the 8 robotic systems sold in the first quarter of 2024, 3 were sold to large medical colleges in India, which also operate teaching hospitals. In addition, SS Innovations also installed a robotic system at the World Laparoscopy Hospital, which is a prominent Minimal Access Surgery Training Institute in India.

SS Innovations Founder and Chairman, Dr. Sudhir Srivastava, said, “We are very excited to announce that training on our Made-in-India SSi Mantra surgical robotic system is now being conducted at the World Laparoscopy Hospital in Gurugram, India. We believe that this affords the Company a highly visible platform to introduce the more than 1,000 doctors from all over the world, who visit this training institute annually, to our advanced surgical robotic system, the SSI Mantra, thereby potentially increasing adoption of our system in their respective countries.”

SS Innovations also announced that its flagship SSi Mantra Surgical Robotic System has successfully completed 1,000 surgeries, a significant milestone for the company. The SSI Mantra Surgical Robotic System has now been utilized in more than 60 different surgical procedures, including cardiothoracic, head and neck, gynecology, urology, and general surgeries in India.

SS Innovations Founder and Chairman, Dr. Sudhir Srivastava, further stated, “We are very excited to announce that our Made-in-India SSi Mantra Surgical Robotic System has now been used in more than 1,000 surgeries. This important milestone would not have been possible without the unwavering support of surgeons in India and around the world. “

About World Laparoscopy Hospital

World Laparoscopy Hospital is a world-class academic institute for Minimal Access Surgery, renowned globally for its excellence. The institute has been accredited by the National Accreditation Board for Hospitals and Healthcare Providers (NABH). It is a scientific, clinical, and educational center that strives to enhance the quality of care for patients undergoing Minimal Access Surgery by setting high standards of laparoscopic and robotic surgical education, as well as clinical practice. World Laparoscopy Hospital's training institute has locations in Gurugram, India, the United Arab Emirates, and the United States of America. This institution complies with the guidelines established in the "Framework for Post-Residency Surgical Education and Training" and has been endorsed at the gold level by various international organizations, including WALS and ICRS. For more information, please visit: https://www.laparoscopyhospital.com

About SS Innovations International, Inc.

SS Innovations International, Inc. (OTC: SSII) is a developer of innovative surgical robotic technologies with a vision to make the benefits of robotic surgery affordable and accessible to a larger part of the global population. SSII’s product range includes its proprietary “SSi Mantra” surgical robotic system, and “SSi Mudra”, its wide range of surgical instruments capable of supporting a variety of surgical procedures including robotic cardiac surgery. SSII’s business operations are headquartered in India and SSII has plans to expand the presence of its technologically advanced, user-friendly, and cost-effective surgical robotic solutions, globally. For more information, visit SSII’s website at ssinnovations.com or LinkedIn for updates.

About SSi Mantra™

Supporting advanced, affordable, and accessible robotic surgery, the SSi Mantra Surgical Robotic System provides the capabilities for multi-specialty usage including cardiothoracic, head and neck, gynecology, urology, general surgery and more. With its modular arm configuration, 3D 4K vision open-console design and superior ergonomics, the system engages with the surgeon and surgical teams to improve safety and efficiency during procedures. The SSi Mantra has received Indian Medical Device regulatory approval (CDSCO) and is clinically validated in India in more than 60 different types of surgical procedures. The Company has initiated the regulatory approval process in the United States and the EU, with approval anticipated in the second half of 2024 or 2025.

Forward-Looking Statements

This press release may contain statements that are not historical facts and are considered forward-looking within the meaning of the Private Securities Litigation Reform Act of 1995. The words “anticipate,” “assume,” “believe,” “estimate,” “expect,” “will,” “intend,” “may,” “plan,” “project,” “should,” “could,” “seek,” “designed,” “potential,” “forecast,” “target,” “objective,” “goal,” or the negatives of such terms or other similar expressions to identify such forward-looking statements. These statements relate to future events or SS Innovations International’s future financial performance and involve known and unknown risks, uncertainties and other factors that may cause our actual results, levels of activity, performance, or achievements to be materially different from any future results, levels of activity, performance or achievements expressed or implied by these forward-looking statements.

For more information:

PCG Advisory

Jeff Ramson

[email protected]

Source: SS Innovations International, Inc.

#press release #prism mediawire #stock market #investing #prismdigitalmedia #prismmarketview #otc markets #otc #healthcare #surgical robotics #Medical Devices #Robotics #Health Tech #SSII #ss innovations

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