AI detects new class of genetic mutations behind autism

Agencies
May 30, 2019

Using Artificial Intelligence (AI), researchers have discovered new genetic flaws that contribute to autism in people.

Most previous research on the genetic basis of disease has focused on the 20,000 known genes and the surrounding sections of DNA that regulate those genes.

However, even this enormous amount of genetic information makes up only slightly more than one per cent of the 3.2 billion chemical pairs in the human genome.

The other 99 per cent has conventionally been thought of as "dark" or "junk," although recent research has begun to disrupt that idea.

In their new finding, detailed in the journal Nature Genetics, the research team offers a method to make sense of this vast array of genomic data.

The system uses an AI technique called deep learning in which an algorithm performs successive layers of analysis to learn about patterns that would otherwise be impossible to discern.

The algorithm teaches itself how to identify biologically relevant sections of DNA and predicts whether those snippets play a role in any of more than 2,000 protein interactions that are known to affect the regulation of genes.

"This method provides a framework for doing this analysis with any disease," said Olga Troyanskaya, Professor at Princeton University in the US.

The approach could be particularly helpful for neurological disorders, cancer, heart disease and many other conditions that have eluded efforts to identify genetic causes.

In the case of autism, the researchers analysed the genomes of 1,790 families with "simplex" autism spectrum disorder, meaning the condition is apparent in one child but not in other members of the family.

The method sorted among 120,000 mutations to find those that affect the behaviour of genes in people with autism.

Among this sample, fewer than 30 per cent of the people affected by autism spectrum disorder had a previously identified genetic cause.

The newly found mutations are likely to significantly increase that fraction, the researchers said.

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Agencies
January 26,2020

High-protein diets may help people lose weight and build muscle, but there is a downside to it --a greater heart attack risk. Researchers now report that high-protein diets boost artery-clogging plaque.

The research in mice showed that high-protein diets spur unstable plaque -- the kind most prone to rupturing and causing blocked arteries.

More plaque buildup in the arteries, particularly if it's unstable, increases the risk of heart attack.

"There are clear weight-loss benefits to high-protein diets, which has boosted their popularity in recent years," said senior author Babak Razani, associate professor at Washington University School of Medicine in St. Louis, Missouri.

"But animal studies and some large epidemiological studies in people have linked high dietary protein to cardiovascular problems. We decided to take a look at whether there is truly a causal link between high dietary protein and poorer cardiovascular health," Razani added.

The researchers studied mice who were fed a high-fat diet to deliberately induce atherosclerosis, or plaque buildup in the arteries.

Some of the mice received a high-fat diet that was also high in protein. And others were fed a high-fat, low-protein diet for comparison.

The mice on the high-fat, high-protein diet developed worse atherosclerosis -- about 30 per cent more plaque in the arteries -- than mice on the high-fat, normal-protein diet, despite the fact that the mice eating more protein did not gain weight, unlike the mice on the high-fat, normal-protein diet.

"A couple of a scoop of protein powder in a milkshake or smoothie adds something like 40 grams of protein -- almost equivalent to the daily recommended intake," Razani said.

"To see if protein has an effect on cardiovascular health, we tripled the amount of protein that the mice receive in the high-fat, high-protein diet -- keeping the fat constant. Protein went from 15 per cent to 46 per cent of calories for these mice".

Plaque contains a mix of fat, cholesterol, calcium deposits and dead cells. Past work by Razani's team and other groups has shown that immune cells called macrophages work to clean up plaque in the arteries.

But the environment inside plaque can overwhelm these cells, and when such cells die, they make the problem worse, contributing to plaque buildup and increasing plaque complexity.

"In mice on the high-protein diet, their plaques were a macrophage graveyard," Razani informed.

To understand how high dietary protein might increase plaque complexity, Razani and his colleagues also studied the path protein takes after it has been digested -- broken down into its original building blocks, called amino acids.

"This study is not the first to show a telltale increase in plaque with high-protein diets, but it offers a deeper understanding of the impact of high protein with the detailed analysis of the plaques," said Razani.

"This work not only defines the critical processes underlying the cardiovascular risks of dietary protein but also lays the groundwork for targeting these pathways in treating heart disease," he added.

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Agencies
July 21,2020

New Delhi, Jul 21: The Centre has written to all states and union territories warning against the use of N-95 masks with valved respirators by people, saying these do not prevent the virus from spreading out and are "detrimental" to the measures adopted for its containment.

The Director General of Health Services (DGHS) in the Ministry of Health, in a letter to the Principal Secretaries of health and medical education of states, said it has been observed that there is "inappropriate use" of N-95 masks, particularly those with valved respirators, by the public other than designated health workers.

The DGHS referred to the advisory on the use of homemade protective cover for face and mouth available on the website of the Ministry of Health.

"It is to bring to your knowledge that the use of valved respirator N-95 masks is detrimental to the measures adopted for preventing the spread of coronavirus as it does not prevent the virus from escaping out of the mask. In view of the above, I request you to instruct all concerned to follow the use of face/mouth cover and prevent inappropriate use of N-95 masks," DGHS Rajiv Garg said in the letter.

The government had in April issued an advisory on the use of homemade protective cover for face and mouth, asking people to wear it, particularly when they step out of their residences.

The advisory stressed such face covers must be washed and cleaned each day, as instructed, and stated that any used cotton cloth can be used to make this face cover.

The colour of the fabric does not matter but one must ensure that the fabric is washed well in boiling water for five minutes and dried well before making the face cover. Adding salt to this water is recommended, it said.

It also listed the procedures of making such homemade masks, asking to ensure it fits the face well and there are no gaps on the sides.

It urges people to wash hands thoroughly before wearing the face cover, switching to another fresh one as the face cover becomes damp or humid, and never reusing it after single use without cleaning it.

"Never share the face cover with anyone. Every member in a family should have separate face cover," the advisory stated.

India's COVID-19 case tally crossed the 11-lakh mark on Monday, while the total number of recovered patients increased to over seven lakh, according to Union health ministry data.

The death toll due to the disease rose to 27,497 with 681 fatalities reported in one day.

The ministry data updated at 8 am on Monday showed that a record single-day jump of 40,425 COVID-19 cases had taken the total number of cases to 11,18,043.

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Agencies
June 28,2020

As the COVID-19 wave sweeps strongly across the country, including in Tamil Nadu, mental health experts say the pandemic has triggered panic attacks among those who tested positive for the virus, causing bouts of depression and even driving some to the brink of suicide.

According to experts, nervousness, fear of contamination, panic attacks, constant reassurance seeking behaviour, sleep disturbance, excessive worry, feelings of helplessness and probability of an economic slowdown are the major factors leading to depression and anxiety among the people.

Potential job losses, financial burden, uncertainty about the future and fears of running out of food and necessities add to the worries.

Online platforms too have seen a growing number of people seeking help for mental health issues, ranging from anxiety and loneliness to concerns over productivity and job loss since the outbreak of COVID-19.

Director of Institute of Mental Health here, Dr R Purna Chandrika said towards April end about 3,632 calls were received and psychiatric counselling was provided to 2,603 callers.

"We have dedicated services at our centres in the districts and the calls meant for government medical college hospitals are routed to the respective institutions," she said.

Due to heavy virus caseloads, making this city the major contributor to the state's tally, the Greater Chennai Corporation too started a free helpline to help residents cope up with stress during the pandemic.

"From the psychological perspective, we don't find a single human being who is not feeling some degree of stress or anxiety due to coronavirus. The intensity and impact varies from person to person," said Lt Col N T Rajan, director of Chennai-based Mastermind Foundation.

The organisation is involved in free counselling throughout India ever since the first case of the deadly virus was reported in the country.

The foundation's recommendation on not to deploy the vulnerable in the police force, especially those above 50 years and women personnel with children below five years for COVID-19 related duty, was accepted and implemented by the Punjab government.

Psychiatrists feel that further worsening situations could lead to severe mental health issues, even triggering suicidal tendencies.

"Further worsening depression may lead to severe mental health issues and suicidal tendencies," said Dr S Senthil Kumar, a psychiatrist.

However, not all of them require medicines, he added.

"The situation is serious. There should be counselling at three stages--on coping with the virus, how to face it if tested positive and how to face life once treated and discharged from the hospital," Rajan said.

Awareness was of paramount importance, he said and warned the pandemic could cause panic attacks while in hospital or drive them to the brink of suicide.

Tamil Nadu, one of the worst affected states with a virus count in excess of 74,000 as of Friday, has witnessed a few instances of suicides allegedly related to COVID-19.

Hari Singh, owner of popular 'Iruttu Kadai' halwa shop in Tirunelveli, allegedly died by committing suicide on Thursday after being tested positive for COVID-19. He was 80.

Earlier in May, two COVID-19 patients in their 50s allegedly committed suicide in separate instances, at the government hospitals they were admitted to for treatment.

In the city corporation limits, a three-member team comprising a psychiatrist, counsellor and a social worker work for the respective zones.

"We direct certain sections of people like those with withdrawal symptoms and people requiring pills, to visit the doctor at their corporation zonal at a specific time, for medicines," a health worker of the civic body said.

Health platform, Lybrate reported an increase of 180 per cent in online patient consultations related to mental health on its platform between March 1 and June 20 across the country.

The largest increase came from Mumbai and Delhi, followed by Pune, Ahmedabad, Chennai and Bengaluru.

The biggest jump was witnessed in the age group of 25 and 45 years.

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