Culture

New research published in the Journal of Bone and Mineral Research has linked heavier birth weight with lower bone mineral density and a higher risk of bone fracture later in life.

The research, which relied on data from the UK Biobank, the Early Growth Genetics consortium, and the Genetic Factors for Osteoporosis consortium, also found evidence that differences in genes that affect birth weight can influence a person's osteoporosis risk.

The findings may be helpful for determining individuals' risks of developing osteoporosis as they age.

"This multi-stage study found consistent causal associations between birth weight and osteoporosis risk," said senior author Shu-Feng Lei, PhD, of the Medical College of Soochow University, in China. "Our results may enhance our understanding of the effects of fetal characteristics on outcomes in late adulthood and could provide clues related to early prevention of osteoporosis."

It all started, when Patrice Cani, FNRS researcher at University of Louvain (UCLouvain), and his team repeatedly observed that a bacterium (called Subdoligranulum) is almost absent in obese and diabetic people, while it is systematically present in healthy people. So, they decided to take a closer look at this "family" of bacteria.

There is as yet only one cultivated strain of this family available in the world (the only known member of a large family) and, no luck, it is not the strain that was observed to be decreased in sick people. This is not unusual: nearly 70% of bacteria in the intestine have not yet been identified (this is called the dark matter of the intestine).

In 2015, the team then set out to isolate the bacterium themselves in order to learn about its action on the human body, knowing that it is only present in healthy people. For 2 years, the scientists searched, isolated and cultivated nearly 600 bacteria from the intestine, in an attempt to find a second member of the family. All in vain. Instead, the UCLouvain team uncovered a bacterium of a new kind, still unknown until then. This achievement is already extraordinary in itself: very few scientists have the opportunity in their careers to discover a new genus of bacteria, and name it. The name they chose? Dysosmobacter welbionis. Dysosmo ("which smells bad", in Greek), bacter (bacterium) is the bacterium which stinks (!), "Because, when you grow it, it has a slight odor". Welbionis for WELBIO, the organization in the Walloon region which funded this research.

The peculiarity of this bacterium? To begin with, it produces butyrate. Nothing exceptional so far, many other bacteria produce this molecule that is known to decrease the risk of colon cancer, for example by strengthening the intestinal barrier and boost immunity. But the team also observed that Dysosmobacter welbionis was less present in people with type 2 diabetes.

Through the analysis of 12,000 fecal samples (microbiota) from around the world (i.e. a very representative population sample), the UCLouvain scientists observed that the bacteria is present in 70% of the population (which is huge). A surprising discovery. With such a presence, how come it has never been discovered before? Part of the answer probably lies in the improved cultivation techniques developed by the UCLouvain team.

The UCLouvain team including Emilie Moens de Hase (doctoral student) and Tiphaine Le Roy (post-doctoral fellow) then tested the action of Dysosmobacter welbionis in mice. The Results? The bacteria increased the number of mitochondria (a kind of power plants within cells that burns fat), thereby lowering sugar levels and weight, in addition to having strong anti-inflammatory effects. All these effects are very promising for type 2 diabetic and obese subjects and resemble those of Akkermansia, a beneficial bacterium that is at the heart of the research in Patrice Cani's lab.

Another observation? The bacteria's effects are not limited to the gut: Scientists have found that certain molecules produced by Dysosmobacter migrate around the body and have distant actions as well. This is promising and probably explains the effects of the bacteria on the fat tissues, but also opens the doors for a possible impact on other diseases such as inflammation and cancer. This is currently being investigated by the team.

The next step? To test the action of Dysosmobacter welbionis coupled with that of Akkermansia, in order to see if their association allows to cumulate their effects on health, while always keeping in mind the fight against type 2 diabetes, inflammatory diseases, obesity and cancer. "That's the fun of research: you dig for dinosaur bones and you end up finding a treasure," enthuses Patrice Cani.

The originality of these discoveries? Identifying a new bacterium and giving it a name that will then be used around the world: the number of times this was achieved in Belgium can be counted on the fingers of both hands. But that's not all, the same research team also identified the effects of this bacterium on the body and its potential interest in the fight against certain diseases. This is an additional, extremely rare step that very few scientists have taken in Belgium. In fact, this is a first, led by a team from UCLouvain, and published in the prestigious scientific journal Gut!

It's incumbent upon counselors to initiate or respond to clients' concerns about racial, ethnic, and cultural issues, but guidelines lack specific instructions. An article published in the Journal of Counseling & Development provides counselors with strategies for broaching and discussing topics of race, ethnicity, and culture with clients.

The article describes a model for broaching these issues and explains a series of steps--joining, assessment, preparation, and delivery--involved in using it.

"This and other articles serve as the foundation for the next phase in our research on counselor implementation of broaching and its impact on client mental health outcomes," the authors wrote.

A study published in Career Development Quarterly has looked at whether beliefs and attitudes influence career aspirations of college students with different genders and sexual orientations.

Among 1,129 college students at a midwestern urban university, stronger self-efficacy beliefs--or perceptions about whether a person has the ability to achieve a desired outcome--led both male and lesbian, gay, bisexual, queer, intersex, and questioning (LGBQIQ) students to seek out leadership positions within their chosen career field. Stronger feminist attitudes were associated with an increase in achievement efforts for LGBQIQ college students, but not for heterosexual students.

"The results of the study not only demonstrate that beliefs and attitudes influence college students' career aspirations, but also underscore the moderating effects of gender and sexual orientation on these relationships", said lead author Darrick Tovar-Murray, PhD, of DePaul University. "Career counselors and other professionals might consider using these findings to support college students in their occupational goals and also encourage them to accomplish their vocational dreams."

New research published in Acta Paediatrica suggests that a pregnant woman's mental health may impact the touch behavior of twins and singletons during pregnancy, and in the case of twins, how frequently they touch themselves and each other. Such touch behavior might be a soothing mechanism for fetuses when mothers are stressed or depressed during their pregnancy.

The study, which was based on ultrasound scans in 30 pregnant women, also found that maternal depression and stress affected the touch and movement behaviors of both singletons and twins, but with differences between the two.

"We already know that maternal mental health, specifically stress and depression, has an effect on fetal development. The findings from this pilot study offer a fascinating insight into the prenatal experience," said lead author Nadja Reissland, DPhil, of Durham University, in the UK. "More research needs to be done to create a toolkit of resources that will allow obstetricians, midwifes, and mental health professionals to better support women throughout their pregnancies with care targeted at their healthcare needs."

Oncotarget published "[18F]FDG and [18F]FES positron emission tomography for disease monitoring and assessment of anti-hormonal treatment eligibility in granulosa cell tumors of the ovary" which reported that the authors evaluated 22 PET/CTs from recurrent Anti-hormonal granulosa cell tumors (AGCT) patients to determine tumor FDG and FES uptake by qualitative and quantitative analysis.

They included all consecutive patients from two tertiary hospitals between 2003-2020.

Expression of ERα and ERβ and mitoses per 2 mm2 were determined by immunohistochemistry and compared to FES and FDG uptake, respectively.

Qualitative assessment showed low-to-moderate FDG uptake in most patients, and intense uptake in 2/16. One patient with intense tumor FDG uptake had a high mitotic rate two out of six patients showed FES uptake on PET/CT at qualitative analysis.

Within patients, expression of ERα and ERβ varied and did not seem to correspond with FES uptake.

In one FES positive patient, tumor locations with FES uptake remained stable or decreased in size during anti-hormonal treatment, while all FES negative locations progressed.

Dr. Joline F. Roze from The Utrecht University said, "Granulosa cell tumors are a well-defined ovarian cancer subtype, responsible for 2-5% of ovarian malignancies with an annual incidence of 0.6–1.0 per 100.000 women worldwide."

Granulosa cell tumors are a well-defined ovarian cancer subtype, responsible for 2-5% of ovarian malignancies with an annual incidence of 0.6–1.0 per 100.000 women worldwide.

Surgery is the mainstay of treatment throughout the disease course, due to generally limited effects of systemic treatments such as chemotherapy and hormone therapy.

These studies found no FDG uptake in two patients, moderate uptake in two patients and intense FDG uptake in one patient with a bone metastasis.

A previous study showed that anti-estrogen treatment can decrease tumor load in a subset of 22 AGCT patients.

Nevertheless, it remains difficult to determine the treatment of choice and to identify patients that may benefit from this treatment.

This study investigates the value of FDG-PET/CT for disease monitoring and FES-PET/CT for indicating anti-hormonal treatment eligibility in AGCT patients.

The Roze Research Team concluded in their Oncotarget Research Output that it remains a clinical challenge to establish the optimal timing of treatment for AGCT recurrences.

Besides PET-CT, other diagnostics such as detection of circulating tumor DNA in plasma, are currently being investigated for disease monitoring and estimation of disease activity.

Given the low incidence of this disease, performing prospective trials in AGCT is difficult.

Future prospective research on FES-PET/CT could elucidate whether this imaging tool can be used to predict the response to hormonal treatment in AGCT patients.

BINGHAMTON, N.Y. -- Women's mental health likely has a higher association with dietary factors than men's, according to new research from Binghamton University, State University of New York.

Lina Begdache, assistant professor of health and wellness studies at Binghamton University, had previously published research on diet and mood that suggests that a high-quality diet improves mental health. She wanted to test whether customization of diet improves mood among men and women ages 30 or older.

Along with research assistant Cara M. Patrissy, Begdache dissected the different food groups that are associated with mental distress in men and women ages 30 years and older, as well as studied the different dietary patterns in relation to exercise frequency and mental distress. The results suggest that women's mental health has a higher association with dietary factors than that of men. Mental distress and exercise frequency were associated with different dietary and lifestyle patterns, which support the concept of customizing diet and lifestyle factors to improve mental wellbeing.

"We found a general relationship between eating healthy, following healthy dietary practices, exercise and mental well-being," said Begdache. "Interestingly, we found that for unhealthy dietary patterns, the level of mental distress was higher in women than in men, which confirmed that women are more susceptible to unhealthy eating than men."

Based on this study and others, diet and exercise may be the first line of defense against mental distress in mature women, said Begdache.

"Fast food, skipping breakfast, caffeine and high-glycemic (HG) food are all associated with mental distress in mature women," said Begdache. "Fruits and dark green leafy vegetables (DGLV) are associated with mental well-being. The extra information we learned from this study is that exercise significantly reduced the negative association of HG food and fast food with mental distress," said Begadache.

This research provides the framework needed for healthcare professionals for customizing dietary plans to promote exercise and improve mental well-being in mature adults, said Begdache. It could also provide a new perspective for the research community when assessing the role of diet on mental distress.

The researchers are conducting a parallel study with young men and women, looking at diet quality in addition to sleep and seasonal change variables from a longitudinal perspective.

The paper, "Customization of Diet May Promote Exercise and Improve Mental Wellbeing in Mature Adults: The Role of Exercise as a Mediator," was published in the Journal of Personalized Medicine.

Microphones are perhaps the most common electronic sensor in the world, with an estimated 320 million listening for our commands in the world's smart speakers. The trouble is that they're capable of hearing everything else, too.

But now, a team of University of Michigan researchers has developed a system that can inform a smart home--or listen for the signal that would turn on a smart speaker--without eavesdropping on audible sound.

The key to the device, called PrivacyMic, is ultrasonic sound at frequencies above the range of human hearing. Running dishwashers, computer monitors, even finger snaps, all generate ultrasonic sounds, which have a frequency of 20 kilohertz or higher. We can't hear them--but dogs, cats and PrivacyMic can.

The system pieces together the ultrasonic information that's all around us to identify when its services are needed, and sense what's going on around it. Researchers have demonstrated that it can identify household and office activities with greater than 95% accuracy.

"There are a lot of situations where we want our home automation system or our smart speaker to understand what's going on in our home, but we don't necessarily want it listening to our conversations," said Alanson Sample, U-M associate professor of electrical engineering and computer science. "And what we've found is that you can have a system that understands what's going on and a hard guarantee that it will never record any audible information."

Ubiquitous computing + privacy

PrivacyMic can filter out audible information right on the device. That makes it more secure than encryption or other security measures that take steps to secure audio data after it's recorded or limit who has access to it. Those measures could all leave sensitive information vulnerable to hackers, but with PrivacyMic, the information simply doesn't exist.

While smart speakers are an obvious application, the research team envisions many others that, while less common, may be more important. In-home ultrasonic devices, for example, could monitor the homes of the elderly for signs that they need help, monitor lung function in respiratory patients or listen to clinical trial participants for sonic signatures that could reveal medication side effects or other problems.

"A conventional microphone placed in somebody's home for months at a time could give doctors richer information than they've ever had before, but patients just aren't willing to do that with today's technology," Sample said. "But an ultrasonic device could give doctors and medical schools unprecedented insight into what their patients' lives are really like in a way that the patients are much more likely to accept."

The idea behind PrivacyMic began when the team was classifying previously recorded audio. Looking at a visual graph of the data, they realized that audible sound was only a small piece of what was available.

"We realized that we were sitting on a lot of interesting information that was being ignored. We could actually get a picture of what was going on in a home or office without using any audio at all," said Yasha Iravantchi, a graduate student in electrical engineering and computer science and first author on a new paper on the research.

Listening for ultrasonic sound

Armed with this insight, a laptop and an ultrasonic microphone, the team then went to work capturing audio from tooth brushing, toilet flushing, vacuuming, running dishwashers, using computer monitors and hundreds of other common activities. They then compressed the ultrasonic signatures into smaller files that included key bits of information while stripping out noise within the range of human hearing--a bit like an ultrasonic MP3--and built a Raspberry Pi-based device to listen for them.

The device, which can be set to filter out speech or to strip out all audible content, accurately identified common activities more than 95% of the time. The team also conducted a trial where study participants listened to the audio collected by the device and found that not a single participant could make out human speech.

While the device is a proof of concept at this stage, Sample says that implementing similar technology in a device like a smart speaker would require only minor modifications--software that listens for ultrasonic sound and a microphone capable of picking it up, which are inexpensive and readily available. While such a device is likely several years off, the team has applied for patent protection through the U-M Office of Technology Transfer.

"Smart technology today is an all-or-nothing proposition. You can either have nothing or you can have a device that's capable of constant audio recording," Sample said. "PrivacyMic offers another layer of privacy--you can interact with your device using audio if you choose or you can have another setting where the device can glean information without picking up audio."

Variants of viruses, such as that causing COVID-19, can now be quickly studied in the laboratory, even before they emerge in nature and become a major public health challenge.

The University of Queensland, QIMR Berghofer Medical Research Institute, Peter Doherty Institute for Infection and Immunity, Monash University, and Queensland Health have developed a technology to manipulate viruses synthetically allowing rapid analysis and mapping of new potential virus variants.

UQ's lead researcher Professor Alexander Khromykh said the technology was ideal for use during a global pandemic such as COVID-19.

"This technique should give us the ability to answer questions about whether potential virus variants are susceptible to a particular drug or vaccine, even before they emerge in nature," Professor Khromykh said.

"Up until now, we've mostly just waited and reacted to viral variants as they emerge, and in the case of SARS-CoV-2 the world has been hit by Indian, UK and South African variants*, just to name a few.

"Now we can mimic the massive 'experiment' going on in nature - where these mutations pop up due to natural selection - but we can do it safely in a strictly controlled and highly regulated biosecurity laboratory environment."

The UQ-developed process uses copies of fragments from the viral genetic material to assemble the functional viral genome in a test tube.

This allows scientists to rapidly generate virus variants and assess their potential to evade antiviral treatments and vaccine-induced immunity.

QIMR Berghofer helped to evaluate infection and disease caused by the 'test tube'-made virus in pre-clinical models to ensure the technology was able to generate authentic viruses.

Professor Andreas Suhrbier from QIMR Berghofer said the research was essential, as viruses were changing all the time.

"We can now monitor changes in viruses like SARS-CoV-2 and can see which variants may not respond to certain vaccines and anti-viral treatments.

"We can also investigate whether potential variants are more or less virulent in mice, and find out which drugs and vaccines will be effective.

"It's great to finally have this vital tool and start tackling these challenging questions."

The research has been published in Nature Communications (DOI: 10.1038/s41467-021-23779-5).

Blue whales may be the biggest animals in the world, but they're also some of the hardest to find.

Not only are they rare (it's estimated that less than 0.15 per cent of blue whales in the Southern Hemisphere survived whaling), they're also reclusive by nature and can cover vast areas of ocean.

But now, a team of scientists led by UNSW Sydney are confident they've discovered a new population of pygmy blue whales, the smallest subspecies of blue whales, in the Indian Ocean.

And it was the whales' powerful singing - recorded by underwater bomb detectors - that gave them away.

"We've found a whole new group of pygmy blue whales right in the middle of the Indian Ocean," says UNSW Professor Tracey Rogers, marine ecologist and senior author of the study.

"We don't know how many whales are in this group, but we suspect it's a lot by the enormous number of calls we hear."

The discovery was made possible using data from the Comprehensive Nuclear-Test-Ban Treaty Organization (CTBTO), an organisation that monitors international nuclear bomb testing.

Since 2002, the CTBTO have been using advanced underwater microphones (called 'hydrophones') to detect soundwaves from potential nuclear bomb tests. The recordings - which pick up many other detailed ocean sounds - are available to scientists to use for their marine science research.

The UNSW-led team were studying the data when they found an unusually strong signal: a whale song that had previously been identified in the recordings, but that scientists still knew little about. After closely studying its composition (details like the song's structure, frequency and tempo), they realised that it belonged to a group of pygmy blue whales - but not any of the ones previously recorded in the area.

"I think it's pretty cool that the same system that keeps the world safe from nuclear bombs allows us to find new whale populations, which long-term can help us study the health of the marine environment," says Prof. Rogers.

Pygmy blue whales are the smallest members of the blue whale family, but that's the only small thing about them: they can reach up to 24 metres' long, which is almost the length of two standard buses.

If visual sightings confirm this new population, they would become the fifth population of pygmy blue whales to be discovered in the Indian Ocean.

The findings, recently published in Scientific Reports, have come in time for World Oceans Day.

"Blue whales in the Southern Hemisphere are difficult to study because they live offshore and don't jump around - they're not show-ponies like the humpback whales," says Prof. Rogers.

"Without these audio recordings, we'd have no idea there was this huge population of blue whales out in the middle of the equatorial Indian Ocean."

A chorus of whales

Dr Emmanuelle Leroy, the lead author of the study and former postdoctoral researcher at UNSW Science, is a bioacoustician - someone who studies how animals create and receive sounds. She was studying the CTBTO data when she noticed a peculiar pattern emerging.

"At first, I noticed a lot of horizontal lines on the spectrogram," says Dr Leroy. "These lines at particular frequencies reflect a strong signal, so there was a lot of energy there."

To find out if the signal was a random blip or something more, Dr Leroy and the team scanned 18 years' worth of CTBTO data - the entire available dataset since the recording started - to look for any wider patterns.

They found the songs weren't just a random occurrence.

"Thousands of these songs were being produced every year," she says. "They formed a major part of the ocean's acoustic soundscape.

"The songs couldn't have just been coming from a couple of whales - they had to be from an entire population."

Singing a simple tune

Like many other whales, blue whales are powerful singers: scientists estimate their songs can travel anywhere between 200 and 500 kilometres. These songs are very low frequency (barely audible to the human ear) and have a different structure to other whales' songs.

"Humpback whales are like jazz singers," says Prof. Rogers. "They change their songs all the time.

"Blue whales, on the other hand, are more traditional. They sing very structured, simple songs."

Music style can even change within a whale species: each of the known pygmy blue whale populations in the Indian Ocean sing slightly different melodies. Prof. Rogers says these musical differences are similar to generational slang between humans.

"We still don't know whether they're born with their songs or whether they've learnt it," she says.

"But it's fascinating that within the Indian Ocean you have animals intersecting with one another all the time but whales from different regions still retain their distinctive songs. Their songs are like a fingerprint that allows us to track them as they move over thousands of kilometres."

Dr Leroy compared the acoustic features of the song with the three other blue whale song-types known in the Indian Ocean, as well as with four types of Omura's whale songs (another whale in the area) - but the evidence pointed towards this being an entirely new population of blue whales.

The team named the newly-found population 'Chagos', after the archipelago they were detected nearby.

"We suspect that the whales singing the Chagos song move at different times across the Indian Ocean," says Prof. Rogers.

"We found them not only in the central Indian Ocean, but as far north as the Sri Lankan coastline and as far east in the Indian Ocean as the Kimberley coast in northern Western Australia."

While the team are confident in their findings, Dr Leroy says it's impossible to confirm the species without a visual observation. Visual sightings for such an elusive animal can be tricky and expensive to fund, so it's unlikely this will be verified anytime soon.

"If it isn't a blue whale, it definitely sings like one," says Dr Leroy.

A big find for conservation

The finding is big news for marine conservation, as blue whales were brought to the edge of extinction after whaling in the 20th Century.

And unlike many other types of whales in the Southern Hemisphere, their numbers haven't sprung back.

"Discovering a new population is the first step to protecting it," says Dr Leroy.

Acoustic information hidden in whale songs can also teach us more about the animals, like their spatial distribution, migration patterns and population numbers. A previous study led by Dr Leroy even found the changing pitch of blue whales' songs could be a response to the noise of cracking icebergs.

Prof. Rogers is now leading a team using the CTBTO data to study how the Chagos population has changed over time. The findings could teach us how the whales adapted to warming ocean temperatures over the past 18 years - and how they might fare moving into the future.

"The largest animal in the world is one of the hardest ones to actually study," says Prof. Rogers.

"There are many more of these blue whales out there than we've realised - and we've only been able to find them with the help of this international infrastructure."

For the first time, a unique study conducted at Lund University in Sweden has tracked the meteorite flux to Earth over the past 500 million years. Contrary to current theories, researchers have determined that major collisions in the asteroid belt have not generally affected the number of impacts with Earth to any great extent.

Researchers have been studying geological series since the 19th century in order to reconstruct how flora, fauna and the climate have changed over millions of years. Until now, however, almost nothing has been known about ancient meteorite flux - which makes sense since impact is rare, and the battered celestial bodies quickly break down as they encounter Earth's oxygen. A new study published in PNAS shows how researchers in Lund have reconstructed meteorite bombardment towards Earth over the past 500 million years.

"The research community previously believed that meteorite flux to Earth was connected to dramatic events in the asteroid belt. The new study, however, shows that the flux has instead been very stable", says Birger Schmitz, professor of geology at Lund University.

To conduct the study, researchers at Lund University's Astrogeobiology Laboratory dissolved almost ten tonnes of sedimentary rocks from ancient seabeds in strong acids because the sediment contains residue from the meteorites dating back to when they fell to Earth.

Meteorites contain a small fraction of a mineral, a chromium oxide, which is very resistant to degradation. The microscopic chromium oxide grains were sifted out in the laboratory and serve as time capsules with an abundance of information.

"The dissolved sediment represents 15 periods over the past 500 million years. In total, we have extracted chromium oxide from almost 10 000 different meteorites. Chemical analyses then enabled us to determine which types of meteorites the grains represent", says Birger Schmitz.

A couple of thousand meteorites land on the Earth's surface every year, and approximately 63 000 space rocks have been documented by science. The space rocks originate from the asteroid belt between Mars and Jupiter where battered celestial bodies from gigantic collisions revolve around the sun.

"We were very surprised to learn that only one of the 70 largest asteroid collisions that took place over the past 500 million years resulted in an increased flux of meteorites to Earth. For some reason, most of the rocks stay in the asteroid belt", says Birger Schmitz.

The study not only upends generally accepted meteorite flux theories; it also provides entirely new perspectives on which types of celestial bodies are at greatest risk of colliding with Earth and where in the solar system they originate. From a geological time perspective, kilometre-sized celestial bodies collide with the Earth on a regular basis. One such event took place 66 million years ago, when a celestial body stretching over 10 kilometres in size hit the Yucatán Peninsula. The impact was part of the reason the Earth went dark and dinosaurs starved to death.

"Future impact from even a small asteroid for example in the sea close to a populated area could lead to disastrous outcomes. This study provides important understanding that we can use to prevent this from happening; for example, by attempting to influence the trajectory of rapidly approaching celestial bodies", concludes Birger Schmitz.

New insight on the link between a gene called SORBS2 and congenital heart disease has been published today in eLife, with findings that may help explain the cause of the disease in some patients.

Some people with congenital heart disease are missing part of the long arm of chromosome 4, otherwise known as chromosome 4q. Chromosomes are thread-like structures made up of DNA. When part of the chromosome is missing, it means that some of the genes located on that section are also lost. Previous studies have linked heart defects related to chromosome 4q deletion syndrome to a missing copy of the HAND2 gene that is found in chromosome 4 and is important for heart development. But not every patient with a heart defect is missing HAND2, which suggests other genes are likely involved as well.

"A previous study of one patient with congenital heart disease suggested mutations in a gene called SORBS2 might be responsible, but this finding had yet to be confirmed," explains first author Fei Liang, a physician at the Neonatal Intensive Care Unit, Shanghai Children's Medical Center, China.

To explore the potential role of SORBS2 in congenital heart disease, Liang and colleagues suppressed the gene in developing human heart cells grown in the laboratory. This led to the development of abnormally shaped heart cells and interfered with the ability of cardiac muscle cells to undergo necessary changes in gene expression.

The team's additional studies in genetically engineered mice showed that a lack of SORBS2 led to the absence or duplication of the wall between the two upper chambers of the heart in 40% of embryos. This duplication is a condition known as double atrial septum. However, the effect was much milder in comparison to human heart defects, suggesting that SORBS2 may be a 'small effect size' congenital heart disease gene - that is to say, it plays a minor role in the disease.

The team further examined how a lack of SORBS2 can affect gene expression in both mice and human cells. Their results highlighted how the levels of other genes and proteins are elevated or reduced in response to the lack of SORBS2, ultimately leading to heart defects and damage.

Finally, they found that rare, damaging variants of the SORBS2 gene were significantly enriched in 300 congenital heart disease cases where gross chromosomal aberrations did not occur. This provides additional genetic evidence that SORBS2 variants have a role in causing general congenital heart disease.

"Our combined studies help explain the cause of congenital heart disease in chromosome 4q deletion syndrome patients who still have the functional HAND2 gene," concludes senior author Zhen Zhang, a professor at Shanghai Pediatric Congenital Heart Disease Institute and Pediatric Translational Medicine Institute, Shanghai Children's Medical Center. "They provide an effective approach for identifying other genes that play a minor role in congenital heart disease and other multigenic diseases. Interestingly, we found that SORBS2 deficiency can cause double atrial septum, a very rare cardiac anomaly linked to a condition called paradoxical thromboembolism. The exact causes of this anomaly are currently unknown, and we hope our study paves the way for exploring this further."

Converting Central American tropical forests into agricultural land is changing the colour and composition of natural material washing into nearby rivers, making it less likely to decompose before it reaches the ocean, a new Southampton-led study has shown.

The flow of dissolved organic material, such as soil, from land to the oceans plays an important role in the global carbon and nutrient cycles. Changing how land is used can alter the type and amount of material being transported, with widespread implications for ecosystems.

In this latest study, an international research team set out to learn more about the effects of deforestation on the coastal environment by studying material that flowed into rivers from various settings in a Central American rainforest, tracking its progress into the sea off the coast of Belize, home to the world's second largest barrier reef.

Stacey Felgate, a PhD Student at the University of Southampton and the National Oceanography Centre, led the study working with partners in Belize. Stacey said, "Like many countries in the region, Belize is experiencing a rapid rate of deforestation due to increasing need for agricultural and urban land, whilst the economy also relies on the fishing and tourism industries on the coastline. Despite this, there has been very little research into the impact that changing land-use at such a fast pace is having on the region's coastal ecosystems."

The findings of the research, published in the journal JGR Biogeosciences, showed that significantly more coloured material is entering the rivers from land used for farming, compared to naturally forested sites.

As the material continued its journey along the river, the team noticed that it accumulated, suggesting that it was not accessible to the micro-organisms who break down natural matter and convert it into carbon dioxide.

When the material reaches the coast, its coloured nature means that it absorbs light and can darken the sea, potentially affecting marine life such as seagrass and corals which need light to grow. The researchers have therefore identified further research into this possible impact as a vital next step in understand what steps are needed to protect coastal ecosystems from deforestation.

Stacey added, "The potential for human activities on land to negatively impact the coastal environment is not unique to Belize, and so our findings are relevant more broadly, particularly for coastal developing nations where deforestation is ongoing but there are no integrated conservation plans between what is happening on land and what is happening in the oceans."

This study is part of a wider project led by Dr Claire Evans of the National Oceanography Centre. The work was funded by the Commonwealth Marine Economies Programme, which aims to enable safe and sustainable marine economies across the Commonwealth Small Island Developing States.

Other partners in the study included University of Belize, the Coastal Zone Management Authority and Institute (Belize), and the UK Centre for Ecology and Hydrology.

Stacey Felgate discusses the findings of her study and why protecting our oceans matters in the University of Southampton's film for World Oceans Day, 'Below the Surface'

A multidisciplinary team led by researchers from the Spanish Research Council (CSIC) identifies the genomic cellular map associated with hippocampal sclerosis, a major histopathological condition of temporal lobe epilepsy. The study, published in Cell Reports, identifies cell-type specific transcriptional signatures of hyper-excitability and neurodegeneration, providing grounds for improved diagnosis. While the presence of sclerosis is essential for identifying temporal lobe epilepsy (the most common form of drug-resistant epilepsy), it is also detected in some cases of dementia associated with Alzheimer's disease.

Hippocampal sclerosis is characterized by the loss of specific neuronal populations and exacerbated activation of other cell types resident in the brain, such as microglia and astrocytes. However, understanding why some neuronal types are more vulnerable than others has remained largely unclear.

In this work, the researchers have developed a transcriptional map that identifies the precise genetic code of all cell types specifically affected in the disease. "With these maps we seek to match different genes with specific biological elements. In the case of the brain, we aim linking expression of some specific genes with different cell types, such as neurons, astrocytes and microglia", explains Liset Menéndez de la Prida, a scientist at the Cajal Institute of the CSIC, who lead the study together with José López-Atalaya, from the Institute of Neurosciences (CSIC-UMH) in Alicante.

To do this, researchers applied two advanced procedures for biological sampling: laser micro-dissection of localized brain tissue and sorting of individual cell nuclei extracted from rats and mice. Using cutting-edge genomic and bioinformatic approaches allowed them to identify specific genetic signatures of degenerative processes.

"When neurons begin to degenerate, they release some signals that can be detected by microglia, which are mediating the inflammatory and neurotoxic response. Each of these processes involve the activation or inactivation of some genetic programs defining a specific genetic signature. We identify some of these genetic signatures associated to neuronal types", explains López-Atalaya.

Researchers also recorded the electrical activity of individual neurons in vivo and found signs of epileptiform activities in some of them. These more hyperexcitable neurons tended to be located in a specific sublayer within the hippocampal region (the superficial sublayer) and expressed some characteristic genes. "Very strikingly, we found that the hyperexcitability map perfectly matched neurodegeneration signatures" adds de la Prida.

To ease dissemination amongst the neuroscience and clinical communities, researchers have made the data associated with this study accessible as a public resource though two interactive websites.

Temporal lobe epilepsy and Alzheimer's

Temporal lobe epilepsy is associated to many causes, from brain infection, injuries caused by trauma, tumors or various genetic factors associated with anatomical changes of the laminar organization of the cerebral cortex. Something common to this heterogeneous group of disorders is the origin of seizures in the temporal lobe, associated with hippocampal atrophy and sclerosis.

In Alzheimer's disease, which affects similar structures of the temporal lobe, electrographic seizures comparable to those of temporal lobe epilepsy have been described. Both diseases are associated with episodic memory deficits, which involve the hippocampus. In some cases of Alzheimer's, atrophy of the hippocampus is also observed, so the results of this study could be of relevance to identify their underlying commonalities.

The work, funded by prestigious national and international grants, involves multidisciplinary collaborations of researchers from several institutions, including the Hospital de San Pau in Barcelona, the Universidad Europea in Madrid, as well as the Riken Brain Institute and the University of Kyoto in Japan.

When sailing along on the seas and you suddenly spot a porpoise's fin in the distance, chances are that you have only encountered a single animal. Porpoises are most often seen alone, but new research now suggests that they also roam in groups - and even enter into a sophisticated collaboration when hunting.

The way they collaborate surprises us, because the common perception among biologists is that porpoises roam and hunt alone, says Associate Professor Magnus Wahlberg, who is an expert in marine mammals and heads the Marine Biological Research Centre at the University of Southern Denmark (SDU).

Drone footage has revealed group hunting among porpoises coming together to hunt schools of fish.

The research team has recorded almost 44 hours of drone footage from the waters around Funen, corresponding to 159 hunting sequences. In 95 of these, between two and six adult porpoises participated. The researchers expected to see the porpoises hunting alone. And if it turned out that several porpoises were in fact hunting together, the researchers expected that it would be an unstructured hunt without no cooperation whatsoever between the individual animals.

Instead, a seemingly solitary animal has turned out to be more social than previously thought, says PhD student Sara Torres Ortiz, who was at SDU when the research was conducted but is now at the Max Planck Institute for Ornithology in Germany. She researches animal cognition.

The footage also shows porpoises hunting alone. According to the researchers, solitary hunters are less successful at foraging food than the porpoises that hunt in groups.

In order to hunt in the observed way, the porpoises must be able to share information and coordinate their actions. They take on different roles during the hunt, and the drone footage has revealed six different roles:

The distant gatherer (far bordering) swims around the school of fish at a distance of at least three body lengths.

The close gatherer (close bordering) swims around the school of fish at a distance closer than three body lengths and with its body and head parallel to the school of fish.

The shepherd (herding fish) swims close to the school of fish and influences its direction.

The splitter (cross school) swims through the school

The spear (hunting attempt) swims directly into the school at high speed

Swimming away - swims away from the school.

Each porpoise can take on different roles during the hunt, and the result of the collaboration is that the school of fish eventually becomes so confused and exhausted that the individual hunters are able to capture the fish that stray away from the school.

There are several different types of group hunting in the animal kingdom. The form observed can be called a form of collaborative hunting, and it is more sophisticated than the form called cooperative hunting, explains Sara Torres Ortiz.

Animals such as chimpanzees and raves exhibit cooperative hunting abilities. During this form of hunting, several hunters gather without taking on different roles.

The collaborative hunt, in which the individual hunters take on different roles, is more rare - or, rather: It is not observed very often because it is inherently difficult to follow. The use of drones opens up new possibilities of following a herd of animals from above - like this porpoise study - and this may in the future contribute with new and improved knowledge about hunting animals.

Until now, collaborative hunting has been scientifically described in animals such as lions, fossas, wolves and jackals. Wolves and jackals divide the hunting pack into two teams, where one team lurks while the other team drives the prey forward. Among lions, the strategy is for the entire pack to approach the prey from different directions, after which some hunters lie down to hide while the rest of the group drives the prey towards them.

Sea-dwelling predators are extra difficult to observe, meaning researchers cannot say with certainty whether animals like killer whales and dolphins hunt cooperatively and/or collaboratively. However, several researchers have observed complex hunting behaviours in killer whales and dolphins. For example, killer whales have been seen making waves that push seals off ice floes.

What other surprises await?

The drone footage now raises new questions:

Does the hunting group consist of the same individuals every time, or is it randomly composed? How often do participants change roles? And do porpoises enter into other social relations with each other?

- Drones have truly changed the possibilities of studying marine animals, and it will be exciting to see if they can surprise us again, says Sara Torres Ortiz.