Earth

ROCHESTER, Minnesota -- A new multi-institution study led by Fergus Couch, Ph.D., a Mayo Clinic pathologist, provides more accurate estimates of breast cancer risk for U.S. women who harbor inherited mutations in breast cancer predisposition genes. The findings of the CARRIERS Consortium study, which were published Wednesday, Jan. 20 in the New England Journal of Medicine, may allow health care providers to better assess the risk of breast cancer in women ? many of whom have no family history of breast cancer ? and provide more appropriate risk management strategies.

"Traditionally, genetic testing of inherited breast cancer genes has focused on women at high risk who have a strong family history of breast cancer or those who were diagnosed at an early age, such as under 45 years," says Dr. Couch. He says current estimates of breast cancer risk provided to women when they are found to have a breast cancer mutation are actually appropriate only for those who are at high risk and not for women from the general population.

In the CARRIERS Consortium study, researchers conducted hereditary cancer genetic testing of 12 established breast cancer genes in 32,247 women with breast cancer and 32,544 women of similar ages without breast cancer from several large U.S. population-based studies. By analyzing women from these population-based studies, researchers were able to better understand how frequent mutations were among the various breast cancer genes and more accurately estimate the risk of developing breast cancer for women in the general population with mutations in those genes.

"The risk of developing breast cancer is generally lower for women without a family history of the disease" says Dr. Couch. "When we looked at all women, we found that 30% of breast cancer mutations occurred in women who are not high-risk." Dr. Couch says that before this study, these women were not able to receive accurate estimates of their breast cancer risk. He also noted that these findings were similar for white, black and Hispanic women.

Dr. Couch anticipates that breast cancer clinics will use the new risk estimates to provide more accurate risk assessments for women who don't have a family history of breast cancer.

PROVIDENCE, R.I. [Brown University] -- When sheets of two-dimensional nanomaterials like graphene are stacked on top of each other, tiny gaps form between the sheets that have a wide variety of potential uses. In research published in the journal Nature Communications, a team of Brown University researchers has found a way to orient those gaps, called nanochannels, in a way that makes them more useful for filtering water and other liquids of nanoscale contaminants.

"In the last decade, a whole field has sprung up to study these spaces that form between 2-D nanomaterials," said Robert Hurt, a professor in Brown's School of Engineering and coauthor of the research. "You can grow things in there, you can store things in there, and there's this emerging field of nanofluidics where you're using those channels to filter out some molecules while letting others go through."

There's a problem, however, with using these nanochannels for filtration, and it has to do with the way those channels are oriented. Like a notebook made from stacked sheets of paper, graphene stacks are thin in the vertical direction compared to their horizontal length and width. That means that the channels between the sheets are likewise oriented horizontally. That's not ideal for filtration, because liquid has to travel a relatively long way to get from one end of a channel to the other. It would be better if the channels were perpendicular to the orientation of the sheets. In that case, liquid would only need to traverse the relatively thin vertical height of the stack rather than the much longer length and width.

But until now, Hurt says, no one had come up with a good way to make vertically oriented graphene nanochannels. That is until Muchun Liu, a former postdoctoral researcher in Hurt's lab, figured out a novel way to do it.

Liu's method involves stacking graphene sheets on an elastic substrate, which is placed under tension to stretch it out. After the sheets are deposited, the tension on the substrate is released, which allows it to contract. When that happens, the graphene assemblage on top wrinkles into sharp peaks and valleys.

"When you start wrinkling the graphene, you're tilting the sheets and the channels out of plane," said Liu, who is now a researcher at Massachusetts Institute of Technology. "If you wrinkle it a lot, the channels end up being aligned almost vertically."

Once the channels are nearly vertical, the assemblage is encased in epoxy, and the tops and bottoms are then trimmed away, which opens the channels all the way through the material. The researchers have dubbed the assemblages VAGMEs (vertically aligned graphene membranes).

"What we end up with is a membrane with these short and very narrow channels through which only very small molecules can pass," Hurt said. "So, for example, water can pass through, but organic contaminants or some metal ions would be too large to go through. So you could filter those out."

Proof-of-concept testing demonstrated that water vapor could pass easily through a VAGME, while hexane -- a larger organic molecule -- was filtered out. The researchers plan to continue developing the technology, with an eye toward potential industrial or household filtering applications.

TROY, N.Y. -- Warnings about misinformation are now regularly posted on Twitter, Facebook, and other social media platforms, but not all of these cautions are created equal. New research from Rensselaer Polytechnic Institute shows that artificial intelligence can help form accurate news assessments -- but only when a news story is first emerging.

These findings were recently published in Computers in Human Behavior Reports by an interdisciplinary team of Rensselaer researchers. They found that AI-driven interventions are generally ineffective when used to flag issues with stories on frequently covered topics about which people have established beliefs, such as climate change and vaccinations.

However, when a topic is so new that people have not had time to form an opinion, tailored AI-generated advice can lead readers to make better judgments regarding the legitimacy of news articles. The guidance is most effective when it provides reasoning that aligns with a person's natural thought process, such as an evaluation of the accuracy of facts provided or the reliability of the news source.

For more information on how AI can counter fake news, watch this video.

"It's not enough to build a good tool that will accurately determine if a news story is fake," said Dorit Nevo, an associate professor in the Lally School of Management at Rensselaer and one of the lead authors of this paper. "People actually have to believe the explanation and advice the AI gives them, which is why we are looking at tailoring the advice to specific heuristics. If we can get to people early on when the story breaks and use specific rationales to explain why the AI is making the judgment, they're more likely to accept the advice."

This two-part study, which involved nearly 800 participants, began in late 2019. The nearly simultaneous onset of the COVID-19 pandemic offered the researchers an opportunity to collect real-time data on a major emerging news event.

"Our work with coronavirus news shows that these findings have real-life implications for practitioners," Nevo said. "If you want to stop fake news, start right away with messaging that is reasoned and direct. Don't wait for opinions to form."

Delivering a minor electric shock into a stream to reveal any fish lurking nearby may be the gold standard for detecting fish populations, but it's not much fun for the trout.

Scientists at Oregon State University have found that sampling stream water for evidence of the presence of various species using environmental DNA, known as eDNA, can be more accurate than electrofishing, without disrupting the fish.

"It's revolutionizing the way we do fish ecology work," said Brooke Penaluna, a research fish biologist with the U.S. Department of Agriculture Forest Service who also has an appointment in OSU's Department of Fisheries and Wildlife. "You can identify species from a bottle of water using genetic tools. When you go out to the site, I can tell you what's in that stream just based on what's in this bottle of water."

Penaluna is lead author on a study published Wednesday in Ecosphere that compared the efficacy of eDNA sampling and electrofishing in detecting how far upstream coastal cutthroat trout were present in coastal and Cascade streams throughout Washington and Oregon.

Determining how far upstream fish are present is crucial for guiding forest management practices, as streams with fish in them receive more protections than streams without fish. It also helps inform conservation by improving scientists' understanding of specific species' distribution and movements.

Electrofishing has been the standard method for surveying fish distribution in bodies of water since the 1960s. It involves sticking two electrodes into the water and applying direct current, which affects fish swimming nearby and causes them to swim toward one of the electrodes. The person doing the sampling can then scoop up the dazed fish in a net and collect data before returning them to the water, where they resume normal activity within a few minutes.

Research sampling for eDNA has been used for over a decade but is not widely used yet in industry or resource management. It involves collecting water samples on-site and running lab tests to check for the presence of DNA for certain species of fish, which the fish shed regularly through excretion and changes in their skin or mucus.

The OSU study tested the effectiveness of eDNA in finding the "last fish" point, the farthest upstream fish are present. The researchers looked for coastal cutthroat trout as they are the fish most commonly found the highest upstream in streams on the west side of the Pacific Northwest, due to their life cycle and size.

Researchers chose 60 coastal streams in Oregon and Washington and conducted eDNA sampling and electro-fishing every 50 meters up to 250 meters upstream of the last recorded "last fish" point for each stream.

They found that in streams where electrofishing detected no trout, there was still a 40% chance that eDNA sampling would show evidence of their presence. eDNA detection revealed fish higher upstream than electrofishing did in 31 streams, in some cases up to 250 meters above where electrofishing pinpointed the "last fish."

However, both methods still struggled to detect trout when the fish were in low density.

The researchers determined that eDNA is a useful complement to electrofishing, especially in places where debris or vegetation make electrofishing impractical, but it's not a full replacement. eDNA detection is less disruptive to fish and requires fewer permits for researchers, but electrofishing provides researchers the opportunity to record other physical data about the fish, including size, health and appearance, that eDNA detection does not allow.

"We're trying to make the point that we're not aiming to eliminate electrofishing; just that we can use this as a complement to that, to provide more information quickly and cleanly," said Ivan Arismendi, co-author on the study and an assistant professor in OSU's Department of Fisheries and Wildlife.

"You can use one and the other like a confirmatory tool -- so if you have a question about endangered species, you can use both, and you can be more robust about the presence if both methods agree."

The researchers hope eDNA detection becomes more popular, as the cost and time required to run eDNA tests continues to fall and field-based equipment is becoming more readily available. eDNA detection in a nearby stream would even be possible to use for a school project, Penaluna said.

"I think there's really broad use for this," she said. "Now I think the next steps are for managers and policymakers to start drawing some of those guidelines."

If you believe you are capable of becoming the healthy, engaged person you want to be in old age, you are much more likely to experience that outcome, a recent Oregon State University study shows.

"How we think about who we're going to be in old age is very predictive of exactly how we will be," said Shelbie Turner, a doctoral student in OSU's College of Public Health and Human Sciences and co-author on the study.

Previous studies on aging have found that how people thought about themselves at age 50 predicted a wide range of future health outcomes up to 40 years later -- cardiovascular events, memory, balance, will to live, hospitalizations; even mortality.

"Previous research has shown that people who have positive views of aging at 50 live 7.5 years longer, on average, than people who don't," said Karen Hooker, co-author of the study and the Jo Anne Leonard Petersen Endowed Chair in Gerontology and Family Studies at OSU.

Because self-perceptions of aging are linked to so many major health outcomes, Hooker and Turner wanted to understand what influences those perceptions. Their study looked specifically at the influence of two factors: self-efficacy associated with possible selves, meaning a person's perceived ability to become the person they want to be in the future; and optimism as a general personality trait.

The researchers measured self-perception of aging by having respondents say how strongly they agreed or disagreed with statements such as, "Things keep getting worse as I get older," "I have as much pep as I had last year," "As you get older, you are less useful." They measured optimism in a similar way, with respondents ranking their agreement with statements like "In uncertain times I usually expect the best."

To measure self-efficacy, the study used a dataset that compiled survey responses from older adults where they listed two "hoped-for" future selves and two "feared" future selves, and ranked how capable they felt of becoming the person they hoped to be and avoiding becoming the person they feared to be.

Among the "hoped for" selves were things like "A social person with a strong network of friends" and "A healthy, active person." Examples of "feared" selves were "Chronically sick and in pain," "Being dependent on others for my day-to-day needs" and "A cranky, angry old woman."

Results showed that, as predicted, higher optimism was associated with more positive self-perception of aging. Both "hoped-for" self-efficacy and "feared" self-efficacy were also significantly associated with self-perception of aging, above and beyond optimism as a trait.

A major factor in how people see their own aging selves is internalizing ageist stereotypes, the researchers said. Examples of such stereotypes include assumptions that older adults are bad drivers, or suffer memory problems, or are unable to engage in physical activity anymore.

"Kids as young as 4 years old already have negative stereotypes about old people," Hooker said. "Then, of course, if you're lucky enough to live to old age, they eventually apply to you."

Those stereotypes get reinforced every time an older adult forgets something and jokes, "Another senior moment!" But the researchers say these thought patterns can do real harm.

"People need to realize that some of the negative health consequences in later life might not be biologically driven. The mind and the body are all interwoven," Hooker said. "If you believe these bad things are going to happen, over time that can erode people's willingness or maybe even eventually their ability to engage in those health behaviors that are going to keep them as healthy as they can be."

A way to mitigate those negative stereotypes about aging is to promote intergenerational relationships, so younger people can see older adults enjoying happy, healthy lives.

"The more you're around older people, the more you realize that it's not all bad," Turner said. "Older people can do some things better than young people do. Increasing opportunities for intergenerational relationships is one way we can make people more optimistic about aging."

DAVIS, Calif., January 21, 2020 - A new peer-reviewed study reveals that the vast majority of U.S. infants may be suffering from a substantial deficiency in an important bacterium key to breast milk utilization and immune system development, as well as protection against gut pathogens linked to common newborn conditions such as colic and diaper rash.

According to the study published today in Scientific Reports, approximately nine out of ten infants are missing Bifidobacterium longum subsp. infantis (B. infantis) in their gut microbiome, a type of bacteria that plays a critical role in infant health and development. This specific type of gut bacteria has been widely documented as providing the most beneficial impact to infant gut health and possessing the ability to fully unlock the nutritional benefits of breast milk.

The study is the largest to date to benchmark the widespread deficiency in gut bacteria among U.S. infants, and the resulting diminished function of their gut microbiomes.

"The vast majority of infants are deficient in this key gut bacterium from the earliest weeks of life, and this is completely off the radar for most parents and pediatricians, alike" said study co-author Karl Sylvester, MD, Professor of Surgery and Pediatrics and Associate Dean of Maternal Child Health Research, Stanford University. "This study provides the clearest picture to date of just how widespread this issue is and highlights the need to address B. infantis deficiency in the infant gut right from the start."

B. infantis had been widely considered one of the most prevalent bacteria in the GI tracts of infants, accordingly its absence from such a wide swath of outwardly healthy infants is surprising. When present, B. infantis breaks down carbohydrates in human breast milk called human milk oligosaccharides (HMOs) which are otherwise inaccessible to the infant. In fact, B. infantis differs from other Bifidobacteria species in its unique adaptation to human breastmilk and specifically in its ability to break down HMOs into usable nutrients. Perhaps more importantly, B. infantis is increasingly linked to the development of the infant immune system, protecting the infant intestinal tract from potentially dangerous bacteria as well as lower incidence of common childhood conditions like colic and diaper rash.

Researchers also discovered that potentially dangerous bacteria comprised, on average, 93 percent of all bacteria in the infant gut microbiome, with the most prevalent bacteria being Escherichia coli (E. coli), Klebsiella pneumoniae, Salmonella, Streptococcus, Staphylococcus and Clostridium difficile (C. diff). Many of these bacteria are known to harbor genes related to antibiotic resistance. In fact, a total of 325 antibiotic resistant genes were found in the gut bacteria, with more than half (54 percent) of those genes being those that confer bacterial resistance to multiple antibiotics.

"The infant gut is essentially a blank slate at birth, and rapidly acquires bacteria from mom and the environment. We were surprised not only by the extensive lack of good bacteria, but the incredibly high presence of potentially pathogenic bacteria and an environment of antibiotic resistance that appears to be so widespread," said Dr. Sylvester. "The infant gut microbiome in the U.S. is clearly dysfunctional, and we believe this is a critical factor underpinning many of the infant and childhood ailments we see today across the country."

Study Methodology

Researchers collected fecal samples from 227 infants under 6 months of age during pediatrician office visits in five different states (CA, GA, OR, PA, SC). The samples were analyzed for bacterial type and amount present, which represents the bacterial composition in the infants' guts. The fecal samples were assessed for bacterial ability to fully use human breast milk -- a hallmark of the presence of health-promoting bacteria, as well as for the presence of antibiotic resistant genes in the bacteria. The researchers did not include samples from infants with jaundice, those who were actively undergoing antibiotic treatment, or those diagnosed with problems with absorbing carbohydrates in their intestine, due to the impact such conditions may have on the ability of the infant gut to carry out normal processes.

Newborn Gut and the Impact on Newborn Health

The infant gut requires the presence of thousands of different bacteria to perform different functions - from biological processes to the development of biological structures and systems. Infant gut dysbiosis is marked by a substantial imbalance between beneficial and potentially pathogenic bacteria in the GI tracts of newborn babies. There has been a strong evidence characterizing a substantial loss of Bifidobacteria in the infant gut over the past 100 years, with research pointing to numerous factors including increased C section delivery, increased use of antibiotics and increased use of infant formula.

As a result of the loss of B. infantis, the infant gut is at greater risk for negative consequences including suboptimal access to the full value of human breast milk, compromised immune system development, an increase in harmful gut pathogens due to increased gut pH, and negative impact on the infant's intestinal wall.

Just like us, many insects need a decent night's sleep to function properly, but this might not be possible if they have been exposed to neonicotinoid insecticides, the most common form of insecticide used worldwide, suggests research by academics at the University of Bristol.

Two studies by scientists at Bristol's Schools of Physiology, Pharmacology and Neuroscience and Biological Sciences have shown these insecticides affect the amount of sleep taken by both bumblebees and fruit flies, which may help us understand why insect pollinators are vanishing from the wild.

Dr Kiah Tasman, Teaching Associate in the School of Physiology, Pharmacology and Neuroscience and lead author of the studies, said: "The neonicotinoids we tested had a big effect on the amount of sleep taken by both flies and bees. If an insect was exposed to a similar amount as it might experience on a farm where the pesticide had been applied, it slept less, and its daily behavioural rhythms were knocked out of synch with the normal 24-hour cycle of day and night."

The fruit fly study published today [21 January] in Scientific Reports, allowed the researchers to study the impact of the pesticides on the insect brain.

As well as finding that typical agricultural concentrations of neonicotinoids ruined the flies' ability to remember, the researchers also saw changes in the clock in the fly brain which controls its 24-hour cycle of day and night.

Dr James Hodge, Associate Professor in Neuroscience in the School of Physiology, Pharmacology and Neuroscience and senior author for the study, added: "Being able to tell time is important for knowing when to be awake and forage, and it looked like these drugged insects were unable to sleep. We know quality sleep is important for insects, just as it is for humans, for their health and forming lasting memories."

Dr Sean Rands, Senior Lecturer in the School of Biological Sciences and co-author, explained: "Bees and flies have similar structures in their brains, and this suggests one reason why these drugs are so bad for bees is they stop the bees from sleeping properly and then being able to learn where food is in their environment.

"Neonicotinoids are currently banned in the EU, and we hope that this continues in the UK as we leave EU legislation."

New research led by BirdLife International, the University of East Anglia (UEA) and British Antarctic Survey highlights how a proposed network of marine protected areas could help safeguard some of the most important areas at sea for breeding Antarctic penguins.

The findings, published today in the journal Frontiers in Marine Science, show that if all the Marine Protected Areas (MPAs) proposed around Antarctica were adopted, the permanent conservation of high-quality areas for a flagship group of Antarctic wildlife - the penguins - would increase by between 49% and 100% depending on the species.

The Southern Ocean surrounding Antarctica is home to thousands of unique species, including seals, whales and four species of penguins - the Adélie, Chinstrap, Gentoo and Emperor. Many of these feed on krill, tiny shrimp-like crustaceans, which are also the target of large commercial fisheries, who harvest them for a variety of krill-based products including fish food.

Penguins are often considered an indicator species whose populations reflect the state of the surrounding marine environment. However, many vital penguin habitats remain unprotected, leaving them susceptible to human-related threats such as pollution, overfishing and climate change.

The study used a new approach based on colony location, population estimates, and tracking data, to identify globally important areas for penguin species around Antarctica, pinpointing 63 key sites.

Known as Important Bird and Biodiversity Areas (IBAs), they are used by at least 1% of a species' global population. They represent important foraging grounds, surrounding breeding colonies of several thousands of individuals when penguins congregate to raise their chicks.

The international team also examined krill fishery activities over the last 50 years and found that while its range of operation has contracted, a consistently disproportionate amount of krill is being harvested within the globally important areas for penguins compared to the total area in which the fishery operates. The results align with other studies which show that krill fisheries might be directly competing with penguins for crucial foraging resources.

"Our findings provide critical evidence about the location and relevance of some of the most important areas globally for chick-rearing adult penguins breeding in Antarctica and nearby islands," said lead author Dr Jonathan Handley, of Birdlife International.

"Over the past five decades, krill fisheries have concentrated into a small number of areas in Antarctic waters, some of which we identified as important penguin foraging grounds. This poses a likely threat for several penguin colonies, especially when they are rearing chicks."

To control the increasing commercial interest in Antarctic fisheries and particularly krill resources, an international convention was established in 1982, governed by the Commission for the Conservation of Antarctic Marine Living Resources (CCAMLR) - an international convention comprised of 25 Member states, together with the European Union.

The convention envisioned the creation of a network of MPAs around Antarctica since 2002, but since 2016 only two have been implemented. Three more have been under discussion for several years but members have not been able to agree on their formal designation.

Co-author Dr Aldina Franco, of UEA's School of Environmental Sciences, said the new study supports the adoption of the proposed MPA network: "Recent studies have shown that krill fisheries could be directly competing with penguins for critical food supplies. The proposed Marine Protected Area network, which has recognised go/no go areas for krill fisheries, can help guarantee that enough krill is available for penguins."

Marie-Morgane Rouyer, who jointly led the research while a Masters student at UEA, added: "Marine resources need to be managed in a sustainable way if we are to guarantee the existence of these emblematic penguin species in the future."

The researchers identified new IBAs that are important for the conservation of Antarctic penguins and examined the overlap with existing and proposed MPAs. They found that Adélie and Emperor penguins currently have 27-31% of the important areas within adopted MPAs, but no Gentoo's IBAs and only 1% of Chinstrap's are within them.

If all proposed MPAs for Antarctica are adopted then an average of 80% of the important areas for penguin conservation would be within an MPA. This highlights the importance of the proposed network, which ultimately could benefit not only Antarctic penguins, but some of the most unique wildlife on Earth.

Researchers from the University of Cambridge have discovered a fossil of the earliest starfish-like animal, which helps us understand the origins of the nimble-armed creature.

The prototype starfish, which has features in common with both sea lilies and modern-day starfish, is a missing link for scientists trying to piece together its early evolutionary history.

The exceptionally preserved fossil, named Cantabrigiaster fezouataensis, was discovered in Morroco's Anti-Atlas mountain range. Its intricate design - with feathery arms akin to a lacework - has been frozen in time for roughly 480 million years.

The new species is unusual because it doesn't have many of the key features of its contemporary relatives, lacking roughly 60% of a modern starfish's body plan.

The fossil's features are instead a hybrid between those of a starfish and a sea lily or crinoid - not a plant but a wavy-armed filter feeder which fixes itself to the seabed via a cylindrical 'stem'.

The discovery, reported in Biology Letters, captures the early evolutionary steps of the animal at a time in Earth's history when life suddenly expanded, a period known as the Ordovician Biodiversification Event.

The find also means scientists can now use the new find as a template to work out how it evolved from this more basic form to the complexity of their contemporaries.

"Finding this missing link to their ancestors is incredibly exciting. If you went back in time and put your head under the sea in the Ordovician then you wouldn't recognize any of the marine organisms - except the starfish, they are one of the first modern animals," said lead author Dr Aaron Hunter, a visiting postdoctoral researcher in the Department of Earth Sciences.

Modern starfish and brittle stars are part of a family of spiny-skinned animals called the echinoderms which, although they don't have a backbone, are one of the closest group of animals to vertebrates. Crinoids, and otherworldly creatures like the sea urchins and sea cucumbers are all echinoderms.

The origin of starfish has eluded scientists for decades. But the new species is so well preserved that its body can finally be mapped in detail and its evolution understood. "The level of detail in the fossil is amazing - its structure is so complex that it took us a while to unravel its significance," said Hunter.

It was Hunter's work on both living and fossil echinoderms that helped him spot its hybrid features. "I was looking at a modern crinoid in one of the collections at the Western Australian Museum and I realised the arms looked really familiar, they reminded me of this unusual fossil that I had found years earlier in Morocco but had found difficult to work with," he said.

Fezouata in Morocco is something of a holy grail for palaeontologists - the new fossil is just one of the many remarkably well preserved soft-bodied animals uncovered from the site.

Hunter and co-author Dr Javier Ortega-Hernández, who was previously based at Cambridge's Department of Zoology and is now based at Harvard University, named the species Cantabrigiaster in honour of the long history of echinoderm research at their respective institutions.

Hunter and Ortega-Hernández examined their new species alongside a catalogue of hundreds starfish-like animals. They indexed all of their body structures and features, building a road map of the echinoderm skeleton which they could use to assess how Cantabrigiaster was related to other family members.

Modern echinoderms come in many shapes and sizes, so it can be difficult to work out how they are related to one another. The new analysis, which uses extra-axial theory - a biology model usually only applied to living species - meant that Hunter and Ortega-Hernández could identify similarities and differences between the body plan of modern echinoderms and then figure out how each family member was linked to their Cambrian ancestors.

They found that only the key or axial part of the body, the food groove - which funnels food along each of the starfish's arms - was present in Cantabrigiaster. Everything outside this, the extra-axial body parts, were added later.

The authors plan to expand their work in search of early echinoderms. "One thing we hope to answer in the future is why starfish developed their five arms," said Hunter. "It seems to be a stable shape for them to adopt - but we don't yet know why. We still need to keep searching for the fossil that gives us that particular connection, but by going right back to the early ancestors like Cantabrigiaster we are getting closer to that answer."

MINNEAPOLIS - A new study shows that intense immunosuppression followed by a hematopoietic stem cell transplant may prevent disability associated with multiple sclerosis (MS) from getting worse in 71% of people with relapsing-remitting MS for up to 10 years after the treatment. The research is published in the January 20, 2021, online issue of Neurology®, the medical journal of the American Academy of Neurology. The study also found that in some people their disability improved over 10 years after treatment. Additionally, more than half of the people with the secondary progressive form of MS experienced no worsening of their symptoms 10 years after a transplant.

While most people with MS are first diagnosed with relapsing-remitting MS, marked by symptom flare-ups followed by periods of remission, many people with relapsing-remitting MS eventually transition to secondary progressive MS, which does not have wide swings in symptoms but instead a slow, steady worsening of the disease.

The study involved autologous hematopoietic stem cell transplants, which use healthy blood stem cells from the participant's own body to replace diseased cells.

"So far, conventional treatments have prevented people with MS from experiencing more attacks and worsening symptoms, but not in the long term," said study author Matilde Inglese, M.D., Ph.D., of the University of Genoa in Italy and a member of the American Academy of Neurology. "Previous research shows more than half of the people with MS who take medication for their disease still get worse over a 10-year period. Our results are exciting because they show hematopoietic stem cell transplants may prevent someone's MS disabilities from getting worse over the longer term."

The study looked at 210 people with MS who received stem cell transplants from 1997 to 2019. Their average age was 35. Of those people, 122 had relapsing-remitting MS and 86 had secondary progressive MS and two had primary progressive MS.

Researchers assessed participants at six months, five years and 10 years after their transplants.

Five years into the study, researchers found that 80% of the people experienced no worsening of their MS disability. At the 10-year mark, 66% still had not experienced a worsening of disability.

When looking at just the people with the most common form of MS, researchers found 86% of them experienced no worsening of their disability five years after their transplant. Ten years later, 71% still experienced no worsening of their disability.

Also, people with progressive MS benefited from stem cell transplants. Researchers found that 71% of the people with this type of MS experienced no worsening of their disability five years after their transplants. Ten years later, 57% experienced no worsening of their disability.

"Our study demonstrates that intense immunosuppression followed by hematopoietic stem cell transplants should be considered as a treatment for people with MS, especially those who don't respond to conventional therapy," Inglese said.

Limitations of the study include that it was retrospective, did not include a control group and the clinicians who helped measure participants' disability were aware that they had received stem cell transplants, so that could have led to bias. Inglese said these limitations will be addressed in future research.

Methamphetamine overdose deaths surged in an eight-year period in the United States, according to a study published today in JAMA Psychiatry. The analysis revealed rapid rises across all racial and ethnic groups, but American Indians and Alaska Natives had the highest death rates overall. The research was conducted at the National Institute on Drug Abuse (NIDA), part of the National Institutes of Health.

Deaths involving methamphetamines more than quadrupled among non-Hispanic American Indians and Alaska Natives from 2011-2018 (from 4.5 to 20.9 per 100,000 people) overall, with sharp increases for both men (from 5.6 to 26.4 per 100,000 from 2011-2018) and women (from 3.6 to 15.6 per 100,000 from 2012-2018) in that group. The findings highlight the urgent need to develop culturally tailored, gender-specific prevention and treatment strategies for methamphetamine use disorder to meet the unique needs of those who are most vulnerable to the growing overdose crisis. Long-term decreased access to education, high rates of poverty and discrimination in the delivery of health services are among factors thought to contribute to health disparities for American Indians and Alaska Natives.

"While much attention is focused on the opioid crisis, a methamphetamine crisis has been quietly, but actively, gaining steam--particularly among American Indians and Alaska Natives, who are disproportionately affected by a number of health conditions," said Nora D. Volkow, M.D., NIDA director and a senior author of the study. "American Indian and Alaska Native populations experience structural disadvantages but have cultural strengths that can be leveraged to prevent methamphetamine use and improve health outcomes for those living with addiction."

Shared decision-making between patient and health care provider and a holistic approach to wellness are deeply rooted traditions among some American Indian and Alaska Native groups and exist in the Indian health care system. Traditional practices, such as talking circles, in which all members of a group can provide an uninterrupted perspective, and ceremonies, such as smudging, have been integrated into the health practices of many Tribal communities. Leveraging traditions may offer a unique and culturally resonant way to promote resilience to help prevent drug use among young people. Development and implementation of other culturally appropriate and community-based prevention; targeting youth and families with positive early intervention strategies; and provider and community education may also aid prevention efforts among this population.

The study found markedly high death rates among non-Hispanic American Indians and Alaska Natives, as well as a pattern of higher overdose death rates in men compared to women within each racial/ethnic group. However, non-Hispanic American Indian and Alaska Native women had higher rates than non-Hispanic Black, Asian, or Hispanic men during 2012-2018, underscoring the exceptionally high overdose rates in American Indian and Alaska Native populations. The results also revealed that non-Hispanic Blacks had the sharpest increases in overdose death rates during 2011-2018. This represents a worrying trend in a group that had previously experienced very low rates of methamphetamine overdose deaths.

Methamphetamine use is linked to a range of serious health risks, including overdose deaths. Unlike for opioids, there are currently no FDA-approved medications for treating methamphetamine use disorder or reversing overdoses. However, behavioral therapies such as contingency management therapy can be effective in reducing harms associated with use of the drug, and a recent clinical trial reported significant therapeutic benefits with the combination of naltrexone with bupropion in patients with methamphetamine use disorders.

NIDA investigators led by Beth Han, M.D., Ph.D., M.P.H., obtained data used in the analysis from the 2011-2018 Multiple Cause-of-Death records from the Centers for Disease Control and Prevention's National Vital Statistics System, the nation's most complete database of births and deaths.

Recent national data show that most people who use methamphetamine are between 25 and 54 years old, so the investigators limited their analysis to this age group. When they examined data from this population as a whole, they found a surge in overdose deaths. Deaths involving methamphetamines rose from 1.8 to 10.1 per 100,000 men, and from 0.8 to 4.5 per 100,000 women. This represents a more than five-fold increase from 2011 to 2018.

"Identifying populations that have a higher rate of methamphetamine overdose is a crucial step toward curbing the underlying methamphetamine crisis," said Dr. Han. "By focusing on the unique needs of individuals and developing culturally tailored interventions, we can begin to move away from one-size-fits-all approaches and toward more effective, tailored interventions."

Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), it is caused by a mutated version of the OTUD5 gene, which interferes with key molecular steps in embryo development. The findings indicate that the newly identified pathway may be essential for human development and may also underlie other disorders that are present at birth. The information will help scientists better understand such diseases--both common and rare--and improve patient care. The results were reported Jan. 20, 2021 in Science Advances.

"Our discovery of the dysregulated neurodevelopmental pathway that underlies LINKED syndrome was only possible through the teamwork of geneticists, developmental biologists and biochemists from NIH," said Achim Werner, Ph.D., an investigator at the National Institute of Dental and Craniofacial Research (NIDCR) and lead author. "This collaboration provided the opportunity to pinpoint the likely genetic cause of disease, and then take it a step further to precisely define the sequence of cellular events that are disrupted to cause the disease."

The project began when David B. Beck, M.D., Ph.D., a clinical fellow in the laboratory of Dan Kastner M.D., Ph.D., at the National Human Genome Research Institute (NHGRI) and co-first author, was asked to consult on a male infant who had been born with severe birth defects that included abnormalities of the brain, craniofacial skeleton, heart and urinary tract. An in-depth examination of siblings' and family members' genomes, combined with genetic bioinformatics analyses, revealed a mutation in the OTUD5 gene as the likely cause of the condition. Through outreach to other researchers working on similar problems, Beck found seven additional males ranging from 1 to 14 years of age who shared symptoms with the first patient and had varying mutations in the OTUD5 gene.

The gene contains instructions for making the OTUD5 enzyme, which is involved in ubiquitylation, a process that molecularly alters a protein to change its function. Ubiquitylation plays a role in governing cell fate, where stem cells are instructed to become specific cell types in the early stages of embryo development.

"Based on the genetic evidence, I was pretty sure OTUD5 mutations caused the disease, but I didn't understand how this enzyme, when mutated, led to the symptoms seen in our patients," said Beck. "For this reason we sought to work with Dr. Werner's group, which specializes in using biochemistry to understand the functions of enzymes like OTUD5."

To start, the NIH team examined cells taken from patient samples, which were processed at the NIH Clinical Center. Normally, OTUD5 edits or removes molecular tags on certain proteins (substrates) to regulate their function. But in cells from patients with OTUD5 mutations, this activity was impaired.

Using a method to return mature human cells to the stem cell-like state of embryo cells, the scientists found that OTUD5 mutations were linked to abnormalities in the development of neural crest cells, which give rise to tissues of the craniofacial skeleton, and of neural precursors, cells that eventually give rise to the brain and spinal cord.

In further experiments, the team discovered that the OTUD5 enzyme acts on a handful of protein substrates called chromatin remodelers. This class of proteins physically alters the tightly packed strands of DNA in a cell's nucleus to make certain genes more accessible for being turned on, or expressed.

With help from collaborators led by Pedro Rocha Ph.D., an investigator at the National Institute of Child Health and Human Development (NICHD), the team found that chromatin remodelers targeted by OTUD5 help enhance expression of genes that control the cell fate of neural precursors during embryo development.

Taken together, the researchers concluded, OTUD5 normally keeps these chromatin remodelers from being tagged for destruction. But when OTUD5 is mutated, its protective function is lost and the chromatin remodelers are destroyed, leading to abnormal development of neural precursors and neural crest cells. Ultimately, these changes can lead to some of the birth defects seen in LINKED patients.

"Several of the chromatin remodelers OTUD5 interacts with are mutated in Coffin Siris and Cornelia de Lange syndromes, which have clinically overlapping features with LINKED syndrome," said Werner. "This suggests that the mechanism we discovered is part of a common developmental pathway that, when mutated at various points, will lead to a spectrum of disease."

"We were surprised to find that OTUD5 elicits its effects through multiple, functionally related substrates, which reveals a new principle of cellular signaling during early embryonic development," said Mohammed A. Basar, Ph.D., a postdoctoral fellow in Werner's lab and co-first author of the study. "These findings lead us to believe that OTUD5 may have far-reaching effects beyond those identified in LINKED patients."

In future work, Werner's team plans to more fully investigate the role that OTUD5 and similar enzymes play in development. The researchers hope the study can serve as a guiding framework for unraveling the causes of other undiagnosed diseases, ultimately helping clinicians better assess and care for patients.

"We're finally able to provide families with a diagnosis, bringing an end to what is often a long and exhausting search for answers," said Beck.

New research suggests a unique program called Moms2B at The Ohio State University Wexner Medical Center shows a reduction in adverse pregnancy outcomes in communities disproportionately affected by these public health issues.

The study, led by researchers Courtney Lynch and Erinn Hade and published in the Journal of Maternal and Child Health, indicates that women who attended at least two Moms2B sessions may have lower rates of preterm birth, low birth weight and infant mortality compared to women who only received individual care.

"When we started the program 10 years ago, the infant mortality rate was as high as 19 per 1,000 births in some of these neighborhoods. Now it's down to 10 per 1,000," said Dr. Patricia Gabbe, founder and director of the Moms2B program and pediatrician at the Ohio State Wexner Medical Center. "This kind of success has never happened before and wouldn't be possible without our community collaborations."

More than 22,000 babies die before their first birthday each year in the U.S. and the infant mortality rate is twice as high among Black babies compared to white babies. However, experts say many of these deaths are preventable, and prevention starts with taking care of expectant mothers and empowering them to deliver full-term, healthy babies.

"For too long, we've relied on obstetricians and pediatricians to tackle this public health problem, and it hasn't worked. So instead, we went into these at-risk neighborhoods and talked to women about the challenges they face, what they want to learn and the services they need," Gabbe said. "We learned that things like housing, food insecurity and child care are huge barriers for these women, and it was a big help when deciding where to concentrate our efforts."

Moms2B approaches prenatal and postnatal health in a new way, integrating education, services and support directly in affected neighborhoods. The program continues to grow, providing more than 2,500 women with lessons on pregnancy and parenting, access to social and medical services and a healthy meal at every session.

"The most important thing I've learned is the importance of keeping your stress down when you're pregnant," said Monyia Wilson, Moms2B participant and mother of five. "Throughout my pregnancy, having support like Moms2B makes you feel like things aren't that hard because they're right there with you. It makes me want to keep coming back, and helped me have healthy pregnancies."

Moms2B educates through a multidisciplinary team approach. Health care professionals, including doctors, nurses, social workers, dietitians, lactation counselors, navigators, community health workers and health care students, listen and learn from everyone attending Moms2B.

"Not only are we able to teach moms through this program, but the moms also teach us about the barriers this population faces," Gabbe said. "If health care professionals are more informed about the obstacles expectant mothers need to overcome, we can better help them have healthy pregnancies and babies."

Gabbe and her team are working with partners across the country to expand the success of Moms2B to more cities and neighborhoods to help improve the health of at-risk moms and babies and lower the national infant mortality rate.

A group of international scientists, including an Australian astrophysicist, has used knowhow from gravitational wave astronomy (used to find black holes in space) to study ancient marine fossils as a predictor of climate change.

The research, published in the journal Climate of the Past, is a unique collaboration between palaeontologists, astrophysicists and mathematicians - to improve the accuracy of a palaeo-thermometer, which can use fossil evidence of climate change to predict what is likely to happen to the Earth in coming decades.

Professor Ilya Mandel, from the ARC Centre of Excellence in Gravitational Wave Discovery (OzGrav), and colleagues, studied biomarkers left behind by tiny single-cell organisms called archaea in the distant past, including the Cretaceous period and the Eocene.

Marine archaea in our modern oceans produce compounds called Glycerol Dialkyl Glycerol Tetraethers (GDGTs). The ratios of different types of GDGTs they produce depend on the local sea temperature at the site of formation.

When preserved in ancient marine sediments, the measured abundances of GDGTs have the potential to provide a geological record of long-term planetary surface temperatures.

To date, scientists have combined GDGT concentrations into a single parameter called TEX86, which can be used to roughly estimate the surface temperature. However, this estimate is not very accurate when the values of TEX86 from recent sediments are compared to modern sea surface temperatures.

"After several decades of study, the best available models are only able to measure temperature from GDGT concentrations with an accuracy of around 6 degrees Celsius," Professor Mandel said. Therefore, this approach cannot be relied on for high-precision measurements of ancient climates.

Professor Mandel and his colleagues at the University of Birmingham in the UK have applied modern machine-learning tools -- originally used in the context of gravitational-wave astrophysics to create predictive models of merging black holes and neutron stars -- to improve temperature estimation based on GDGT measurements. This enabled them to take all observations into account for the first time rather than relying on one particular combination, TEX86. This produced a far more accurate palaeo-thermometer. Using these tools, the team extracted temperature from GDGT concentrations with an accuracy of just 3.6 degrees - a significant improvement, nearly twice the accuracy of previous models.

According to Professor Mandel, determining how much the Earth will warm in coming decades relies on modelling, "so it is critically important to calibrate those models by utilising literally hundreds of millions of years of climate history to predict what might happen to the Earth in the future," he said.

What goes on in the sun can only be observed indirectly. Sunspots, for instance, reveal the degree of solar activity - the more sunspots are visible on the surface of the sun, the more active is our central star deep inside. Even though sunspots have been known since antiquity, they have only been documented in detail since the invention of the telescope around 400 years ago. Thanks to that, we now know that the number of spots varies in regular eleven-year cycles and that, moreover, there are long-lasting periods of strong and weak solar activity, which is also reflected in the climate on Earth.

However, how solar activity developed before the start of systematic records has so far been difficult to reconstruct. An international research team led by Hans-Arno Synal and Lukas Wacker of the Laboratory of Ion Beam Physics at ETH, which included the Max Planck Institute for Solar System Research in Göttingen and Lund University in Sweden, has now traced back the sun's eleven-year cycle all the way to the year 969 using measurements of the concentration of radioactive carbon in tree rings. At the same time, the researchers have thus created an important database for more precise age determination using the C14 method. Their results were recently published in the scientific journal Nature Geoscience.

Solar activity from tree rings

To reconstruct solar activity over a millennium with an extremely good time resolution of just one year, the researchers used tree-ring archives from England and Switzerland. In those tree rings, whose ages can be precisely determined by counting the rings, there is a tiny fraction of radioactive carbon C14, with only one out of every 1000 billion atoms being radioactive. From the known half-life of the C14 isotope - around 5700 years - one can then deduce the concentration of radioactive carbon present in the atmosphere when the growth ring was formed. As radioactive carbon is mainly produced by cosmic particles, which in turn are kept away from the Earth to a greater or lesser extent by the magnetic field of the sun - the more active the sun, the better it shields the Earth - it is possible to deduce solar activity from a change in the concentration of C14 in the atmosphere.

Better results through modern detection techniques

Precise measurements of a change in that already very small concentration, however, resemble the search for a grain of dust on a needle in a huge haystack. "The only measurements of that kind were made in the 80's and 90's", says Lukas Wacker, "but only for the last 400 years and using the extremely laborious counting method". In that method, radioactive decay events of C14 in a sample are directly counted using a Geiger counter, which requires a relatively large amount of material and, owing to the long half-life of C14, even more time. "Using modern accelerator mass spectrometry we were now able to measure the C14 concentration to within 0.1 percent in just a few hours with tree-ring samples that were a thousand times smaller", adds PhD student Nicolas Brehm, who was responsible for those analyses.

In accelerator mass spectrometry, C14 and C12 atoms (the "normal", non-radioactive carbon; C14, by contrast, contains two additional neutrons in its nucleus) of the tree material are first electrically charged and then accelerated by an electric potential of several thousand volts, after which they are sent through a magnetic field. In that magnetic field the two carbon isotopes, which have different masses, are deflected to different degrees and can thus be counted separately. To eventually obtain the desired information on solar activity from that raw data, the researchers have to perform some intricate statistical analysis on it and further process the results using computer models.

Regular eleven-year cycle over a millennium

This procedure enabled the researchers to seamlessly reconstruct solar activity from 969 to 1933. From that reconstruction they could confirm the regularity of the eleven-year cycle as well as the fact that the amplitude of that cycle (by how much the solar activity goes up and down) is also smaller during long-lasting solar minima. Such insights are important for a better understanding of the internal dynamics of the sun. The measurement results also allowed a confirmation of the solar energetic proton event of 993. In such an event, highly accelerated protons that reach the Earth during a solar flare cause a slight overproduction of C14. Moreover, the research team also found evidence of two further, as yet unknown events in 1052 and 1279. This could indicate that such events - which can severely disturb electronic circuits on Earth and in satellites - happen more frequently than previously thought.

More precise dating by the C14 method

As tree ring archives exist for the past 14'000 years, in the near future the researchers want to use their method to determine the yearly C14 concentrations all the way back to the end of the last ice age. As a kind of "extra", the data in the new study can be used for dating organic material much more precisely using the C14 method and have already been included in the latest edition of the internationally recognized radio carbon calibration curves (IntCal). "ETH had not been involved in that reference database before", says Lukas Wacker, "but with our new results we have now contributed a third of the measurements in one go."