Knowledge Update

​Toronto, April 12 (IANS) Researchers have identified 26 new genes linked to intellectual disability which is characterised by significant limitations in learning.

More than one in 100 children worldwide is affected by intellectual disability. Frequently, intellectual disability also accompanies symptoms of autism spectrum disorders, and many genes have been found to be shared by the two illnesses.

The study, published online in the journal Molecular Psychiatry, could eventually lead to personalised treatments for affected individuals, and also add to our growing knowledge of brain development and functioning. 

"Knowing the genes involved is a big step forward, but understanding how they function is also crucial before we can start planning treatments or even cures," said team leader John Vincent from the Centre for Addiction and Mental Health in Toronto, Canada.

The study, which was jointly led with Muhammad Ayub of Queen's University in Canada, involved 192 families from Pakistan and Iran with more than one affected family member. 

Intellectual disability is frequently caused by recessive genes, meaning that an affected child gets a defective copy of the gene from each parent.

The families in the study all had a history of marriage among relatives, which occurs quite commonly in communities in South Asia, the Middle East and Africa. 

Studying families with this background, and multiple affected individuals, can enable researchers to identify disease genes that would otherwise remain hidden.

The research team pinpointed mutations related to intellectual disability in half of these 192 families. 

The identification of 26 new genes adds to 11 new genes that the team had previously linked to intellectual disability.

One immediate implication of the study is to prevent future cases of intellectual disability, the researchers note. 

Unaffected family members and relatives could be genetically screened to see if they carry these mutations. 

While 26 genes may seem a substantial number, there are likely hundreds of genes that, when defective, may lead to intellectual disability, the researchers pointed out. 

"The strategy we have used speeds up the process of identifying disease genes and of enabling diagnostic labs to deliver more accurate information for clinicians and families," Vincent said.

​London, April 12 (IANS) In a first, scientists have developed a drug activated by light which has therapeutic applications for the treatment of pain.

The new "photo-drug" -- JF-NP-26 -- is a molecule that can be specifically activated at any wished moment (that is, with a high spatiotemporal resolution) with light, the researchers said.

"This is the first light-activated drug designed for the treatment of pain in vivo with animal models," said Francisco Ciruela, Professor at the University of Barcelona. 

JF-NP-26 is activated when receiving light -- using an optical fibre -- of a suitable wave length and with an exact precision on the target tissue (brain, skin, articulations, etc).

The drug does not show toxic or unwanted effects even if the dose is high in short-length studies on animals.

The discovery, published in the journal eLife, will overcome the problems faced with the uses and effects of current drugs such as slow and inexact distribution of the drug, lack of spatiotemporal traits in the organism and difficulties in the dose adjustments, the researchers said.

JF-NP-26's lightening includes a treatment on the molecule that releases the active molecule (raseglurant) that blocks the metabotropic glutamate type 5 (mGlu5) receptor, found in lots of neuronal functions such as the spread of neuronal pain. 

Blocking this receptor allows preventing the pain from spreading into the brain. This can be produced both due to the outlying neurons and the central nervous system (brain) and create, in both cases, an analgesic effect as a result.

"The molecule created by the action of light, the raseglurant, does not belong to any group of drugs from the classic anti-pain list of drugs: non-steroidal anti-inflammatory drugs or NSAID (paracetamol, ibuprofen, etc.) and opioids (morphine, phentanyl)," Ciruela said.

​New York, April 12 (IANS) Ever wondered what causes your shoelaces to loosen even when you tie them as firmly as possible?

It is because while running, the force of a foot striking the ground stretches and then relaxes the knot, a study has showed. 

As the knot loosens, a second force caused by the swinging leg acts on the ends of the laces, like an invisible hand, which rapidly leads to a failure of the knot in as few as two strides after inertia acts on the laces.

The findings, published in the journal Proceedings of the Royal Society, may help understand things like DNA that fail under dynamic forces, the researchers said. 

"When you talk about knotted structures, if you can start to understand the shoelace, then you can apply it to other things, like DNA or microstructures, that fail under dynamic forces," said Christopher Daily-Diamond, graduate student at the University of California-Berkeley.

Using a slow-motion camera and a series of experiments, the researchers assessed a pair of running shoes that were laced-up and were on a treadmill. 

They found that shoelace knot failure happens in a matter of seconds, triggered by a complex interaction of forces, as when running, the foot strikes the ground at seven times the force of gravity.

In addition, the study showed that some laces might be better than others for tying knots, but the fundamental mechanics causing them to fail is the same.

"The interesting thing about this mechanism is that your laces can be fine for a really long time, and it's not until you get one little bit of motion to cause loosening that starts this avalanche effect leading to knot failure," said Christine Gregg, graduate student at the University of California-Berkeley.

​New York, April 12 (IANS) Individuals' different social etworking profile on sites like Facebook, Twitter, and LinkedIn stem from a desire to fit within the distinctive culture or etiquette of each site, say researchers, including one of Indian-origin.

The findings showed that users are not explicitly modifying their profile, but rather subconsciously adapting the behaviour modelled to fit in.

"Despite our best efforts, we do still fit stereotypes of gender and age in the way we tailor our persona," said Nishanth Sastry, Senior Lecturer at King's College London.

For instance, a photo of someone's colourful Starbucks drink may be popular on Instagram, but the same image post to LinkedIn would be frowned upon. 

"The users tend to portray themselves differently in these different worlds," added Dongwon Lee, Associate Professor at the Pennsylvania State University.

The findings will be presented at the International AAAI Conference on Web and Social Media (ICWSM) in Canada.

For the research, the team compiled information on over 100,000 social media users by utilising About.me -- a site that acts as a social media directory -- where users volunteer their own profiles, making it an extremely reliable dataset.

Upon analysing the profile pictures and biography information provided by these users, the team also found some surprising differences in how different demographics portray themselves. 

The results showed that women were less likely to wear corrective eyewear, like reading glasses, in their profile pictures and users under the age of 25 were less likely to be smiling in their profile picture.

"Social media consumes an increasingly large portion of our lives. Therefore, understanding how we interact with each other on social media is important to understanding who we are in the online world, and how we relate to each other in virtual but still meaningful ways," Sastry added. 

New York, April 11 (IANS) Astronomers have discovered a faint, incredibly distant galaxy, about 13.1 billion years in the past, just about 700 million years after the Big Bang.

The new object, named MACS1423-z7p64, was detailed in a study published in the journal Nature Astronomy.

The researchers used the Hubble space telescope to find the galaxy and confirmed its age and distance with instruments at the Keck Observatory in Hawaii.

"Other most distant objects are extremely bright and probably rare compared to other galaxies," said lead author Austin Hoag from University of California, Davis in the US. 

"We think this is much more representative of galaxies of the time," Hoag said.

These ultra-distant galaxies, seen as they were close to the beginning of the universe, are interesting because they fall within the "Epoch of Reionisation," a period about a billion years after the Big Bang when the universe became transparent.

After the Big Bang, the universe was a cloud of cold atomic hydrogen, which blocks light. 

The first stars and galaxies condensed out of the cloud and started to emit light and ionising radiation. 

This radiation melted away the atomic hydrogen like a hot sun clearing fog, and the first galaxies spread their light through the universe. But much remains lost in the fog of reionisation.

To find the faint faint, distant object, the astronomers took advantage of a giant lens in the sky.

As light passes by a massive object such as a galaxy cluster, its path gets bent by gravity, just as light gets bent passing through a lens. 

When the object is big enough, it can act as a lens that magnifies the image of objects behind it.

While it is similar to millions of other galaxies of its time, z7p64 just happened to fall into the "sweet spot" behind a giant galaxy cluster that magnified its brightness ten-fold and made it visible to the team, using the Hubble space telescope. 

They were then able to confirm its distance by analysing its spectrum with the Keck Observatory telescopes in Hawaii.

The team plans to continue their survey of candidate galaxies with the Hubble and Keck telescopes, and later with James Webb space telescope, set for launch in 2018.

It is expected that the Webb telescope, which is bigger than Hubble, will allow astronomers to look at even more distant parts of the universe, which will help astronomers answer the question of where did we come from.

​New York, April 11 (IANS) Scientists have found a way to create an HIV-resistant cell population which can quickly replace diseased cells, thereby potentially curing the disease in an infected person.

"This protection would be long-term," said Jia Xie, senior staff scientist at The Scripps Research Institute (TSRI) in the US and first author of the study published in the journal Proceedings of the National Academy of Sciences.

The researchers found a way to tether HIV-fighting antibodies to immune cells, thereby creating a cell population resistant to the virus. 

Their experiments under lab conditions showed that these resistant cells can replace diseased cells.

The new technique offers a significant advantage over therapies where antibodies float freely in the bloodstream at a relatively low concentration, the researchers said.

Instead, antibodies in the new study hang on to a cell's surface, blocking HIV from accessing a crucial cell receptor and spreading infection.

The researchers said they plan to collaborate with investigators at City of Hope -- an independent research and treatment centre for cancer, diabetes and other life-threatening diseases in the US -- to evaluate this new therapy in efficacy and safety tests, as required by federal regulations, prior to testing in patients.

​New York, April 11 (IANS) The delicate marine predators called comb jellies were the earliest animals -- not sponges as had long been thought, claims a new genetic analysis.

One of the longest-running controversies in evolutionary biology has been: 'What was the oldest branch of the animal family tree? Was it the sponges or was it the comb jellies?'

The new study, published in the journal Nature Ecology & Evolution, suggests that comb jellies were the first branch of the animal family tree.

With their analysis involving hundreds to thousands of genes, the researchers determined that comb jellies have considerably more genes which support their "first to diverge" status in the animal lineage than do sponges.

The researchers believe that the findings could have a major impact on scientists' thinking about how the nervous system, digestive tract and other basic organs in modern animals evolved.

For nearly a century, scientists organised the animal family tree based in large part on their judgement of the relative complexity of various organisms.

Because of their comparative simplicity, sponges were considered to be the earliest members of the animal lineage. 

This paradigm began to shift when the revolution in genomics began providing vast quantities of information about the DNA of an increasing number of species. 

Evolutionary biologists started to apply this wealth of information to refine and redefine evolutionary relationships, creating a new field called phylogenomics. 

In most cases, the DNA data helped clarify these relationships. In a number of instances, however, it gave rise to controversies that intensified as more and more data accumulated.

The researchers decided to focus on 18 of these controversial relationships (seven from animals, five from plants and six from fungi) in an attempt to figure out why the studies have produced such strongly contradictory results. 

To do so, they got down into the weeds, genetically speaking, and began comparing the individual genes of the leading contenders in each relationship.

"In these analyses, we only use genes that are shared across all organisms," said one of the researchers Antonis Rokas, Professor at Vanderbilt University in Nashville, Tennessee, US.

"The trick is to examine the gene sequences from different organisms to figure out who they identify as their closest relatives. When you look at a particular gene in an organism, let's call it A, we ask if it is most closely related to its counterpart in organism B? Or to its counterpart in organism C? And by how much," Rokas added.

Their analysis showed that comb jellies have considerably more genes which support their "first to diverge" status in the animal lineage than do sponges.

New York, April 11 (IANS) Although children are thought of being deficient in many skills when compared to adults, a new study has shown that this limitation in kids can actually be their strength as they can see what adults tend to miss.

"We often think of children as deficient in many skills when compared to adults. But some times what seems like a deficiency can actually be an advantage," said Vladimir Sloutsky, Professor at the Ohio State University in the US.

The findings revealed that while adults are very good at remembering information they are told to focus on, they tend to ignore the rest. 

Conversely, 4- to 5-year-olds tend to pay attention to all the information that was presented to them -- even when they were told to focus on one particular item. 

Thus, children noticed things that adults did not catch because of the grownups' selective attention.

Children are extremely curious and they tend to explore everything, which means their attention is spread out and they end up noticing and remembering more than the adults, Sloutsky noted, in the paper published in the journal Psychological Science.

However, the ability of adults to focus their attention helps them to sit in two-hour meetings and maintain long conversations, while ignoring distractions. 

"But young children's use of distributed attention allows them to learn more in new and unfamiliar settings by taking in a lot of information," Sloutsky explained.

The fact that children don't always do as well at focusing attention also shows the importance of designing the right learning environment in classrooms.

"Children can't handle a lot of distractions. They are always taking in information, even if it is not what you're trying to teach them. We need to make sure that we are aware of that and design our classrooms, textbooks and educational materials to help students succeed," Sloutsky said.

London, April 11 (IANS) People with higher scores on life skills -- such as emotional stability, determination, control, optimism and conscientiousness -- are more likely to experience a broad range of health benefits and positive social outcomes in their old age, a study suggests.

The findings showed that people who have more life skills enjoy a range of benefits, including greater financial stability, less depression, low social isolation, better health and fewer chronic diseases.

"No single attribute was more important than others. Rather, the effects depended on the accumulation of life skills," said Andrew Steptoe, Professor at the University College London.

In the study, published in the journal PNAS, the academics looked at the impact of these attributes in over 8,000 men and women aged 52 and older.

People with more life skills benefitted from favourable objective biomarkers in the blood, including lower levels of cholesterol and of C-reactive protein -- a marker of inflammation relevant to a number of different diseases. 

They had smaller waistlines, where fat accumulation is particularly relevant to metabolic and cardiovascular diseases, than people with a few life skills.

People with more skills also walked significantly faster than those with fewer -- walking speed is an objective measure predicting future mortality in older population samples, the researchers said.

"We were surprised by the range of processes -- economic, social, psychological, biological, and health and disability related -- that seem to be related to these life skills. Our research suggests that fostering and maintaining these skills in adult life may be relevant to health and well-being at older ages," Steptoe said.

Sydney, April 10 (IANS) A pioneering anaesthesia technique that makes surgery safer for patients with obstructed airways has helped save at least one life already, doctors in Australia said on Monday.

"An adult patient with an infected epiglottis was in danger of having his airway blocked by rapid swelling, and this technique enabled us to safely control his airway without surgery," said Anton Booth, Senior Lecturer at the University of Queensland in Brisbane, Australia.

"It is also making a difference to quality of life for those people who may previously have been unsuitable for surgery," Booth said in a university news release.

In a study conducted at Australia's Princess Alexandra Hospital, the team combined two relatively new techniques.

"Traditionally with anaesthesia we expect patients to stop breathing, as we are putting them into a state resembling a medically-induced coma," Booth said.

"Our job as anaesthetists is to take over breathing for the patient to keep them oxygenated, often through intubation. In patients undergoing surgery for narrowed airways we can't insert a tube into the trachea where the surgeons are trying to operate," he said.

"Instead we implemented a way to keep the patient breathing spontaneously during anaesthesia," Booth added.

The team supplemented that approach by adding high-flow nasal oxygen supply, previously used in intensive care and respiratory units.

"Through this combination we have been able to manage anaesthesia for patients with very challenging airway narrowing," he said.

"We have been able to achieve quite spectacular improvements in oxygen levels while patients are in deep anaesthesia. This is a modern alternative to traditional techniques and has great potential to be used in many other scenarios," Booth said.

The technique, known as STRIVE Hi, was detailed in the British Journal of Anaesthesia.