1. Home
  2. AI detects new class of genetic mutations behind autism

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.

Comments

Add new comment

About text formats
  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
Dr G K Sudhakar Reddy
August 4,2020

Being overweight or obese is now recognised as a serious cause of ill health and disability. There is a significant positive association between orthopaedic disorders and the level of obesity causing pain, deformity and difficulty in walking.

Excess body weight accumulation increases pressure on joints, particularly the hips, knees and ankles.

Here are a few type of  arthritis:

Osteoarthritis

It is a condition of damage/ wear and tear of the joint lining or cartilage. Obesity triggers this by loading excessive weight on the weight bearing joints like the knee and the hip. 

Knee Osteoarthritis

This is the most common arthritis especially in the Indian subcontinent.

While walking, an individual exerts 3 to 6 times pressure that of the body weight on the weight-bearing knee joint, which means in an obese with excess body weight, larger forces are exerted, which lead to higher risk of deterioration of cartilage.

In addition, there are excessive fat tissues that produce hormones and other factors that affect the joint cartilage metabolism and cause inflammation of the joints giving rise to joint pathology.  Leptin is one of the hormones causing knee osteoarthritis. 

Hip osteoarthritis

The force exerted across the hip is 3 times that of body weight. Hip osteoarthritis is caused by factors such as joint injury, increasing age and being overweight.    

Hand osteoarthritis

The observation that obese individual has a higher risk in having hand osteoarthritis has led to a hypothesis that the metabolic effect produced by fat tissue is the underlying factor. 

Osteoporosis

It is a progressive bone condition of decrease in bone mass and density (Bone Mineral Density or BMD) which can lead to an increased risk of fracture. Recent research suggests that obesity may accelerate bone loss. It is the amount of muscle mass which is seen in an active person, which accounts for bone strengthening effects and not due to the fat seen in a heavy person.

Low back pain

Low back pain from degenerative disc disease of the lumbar spine is one of the most disabling conditions in the community and overweight and obesity have the strongest association with seeking care for low back pain.

Managing Hip and Knee Osteoarthritis

Life style changes

If one is overweight, try to lose weight by doing more physical activity and eating a healthier diet. Regular exercise keeps you active and mobile and builds up muscle, thereby strengthening the joints and can improve symptoms. 

Pain Killers

Painkillers help with pain and stiffness for short term. They don’t affect the arthritis itself and won’t repair the damage to your joint. Creams and gels can be applied directly onto painful joints.

Nutritional Supplements

Glucosamine and chondroitin are nutritional supplements. Animal studies have found that glucosamine can both delay the breakdown of and repair damaged cartilage. However, there is insufficient evidence to support the use of glucosamine in humans and one can expect only a mild-to-moderate reduction in pain

Joint injections

If pain from osteoarthritis is severe joint steroid injections are injected into the joints that can reduces swelling and pain. The injections can start working within a day or so and may improve pain for several weeks or months. 

Hyaluronic acid injections, which help to lubricate your knee joint also give short term relief. In early stages. Stem cell treatment or cartilage regeneration procedures are being tried in young people with small defects, however it is still experimental and lacks long term evidence.

Surgery

May be recommended if you have severe pain or mobility problems.

Arthroscopy

If one has frequent painful locking/stiffening episodes especially in the knee joint, an operation to wash out loose fragments of bone and other tissue as joint can be performed by a minimally invasive key hole procedure called Arthroscopy.

Arthrodesis

If hip or knee replacement is not suitable, especially in young people who do heavy manual work, one can consider an operation known as an arthrodesis, which fuses your joint in a permanent position. This means that your joint will be stronger and much less painful, although you will no longer be able to move it.

Osteotomy

In young, active people in whom a knee joint replacement would fail due to excessive use one can consider an operation called an osteotomy. This involves adding or removing a small section of bone either above or below your knee joint.  This helps realign your knee so your weight is no longer focused on the damaged part of your knee. An osteotomy can relieve your symptoms of osteoarthritis, although you may still need knee replacement surgery eventually as you grow old

Joint replacement surgery

Joint replacement therapy is most commonly carried out to replace hip and knee joints. It involves replacing a damaged, worn or diseased joint with an artificial joint made of special plastics and metal.

For most people, a replacement hip or knee will last for at least 20 years, especially if it is cared for properly and not put under too much strain.

Dr G K Sudhakar Reddy is a Sr Consultant Orthopaedic Surgeon at Citizens Speciality Hospitals, Hyderabad

Comments

Add new comment

About text formats
  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
Agencies
May 20,2020

Washington D.C., May 20: While a dairy-rich diet is helpful in meeting the body's calcium requirement, outcomes of a large international study links eating at least two daily servings of dairy with lower risks of diabetes and high blood pressure.

The dairy-rich diet also proved to lower the cluster of factors that heighten cardiovascular disease risk (metabolic syndrome). The study was published online in journal BMJ Open Diabetes Research & Care.

The observed associations were strongest for full-fat dairy products, the findings indicated.

Previously published research has suggested that higher dairy intake is associated with a lower risk of diabetes, high blood pressure, and metabolic syndrome. But these studies have tended to focus on North America and Europe to the exclusion of other regions of the world.

To see whether these associations might also be found in a broader range of countries, the researchers drew on people taking part in the Prospective Urban Rural Epidemiology (PURE) study.

Participants were all aged between 35 and 70 and came from 21 countries: Argentina; Bangladesh; Brazil; Canada; Chile; China; Colombia; India; Iran; Malaysia; Palestine; Pakistan; Philippines, Poland; South Africa; Saudi Arabia; Sweden; Tanzania; Turkey; United Arab Emirates; and Zimbabwe.

Usual dietary intake over the previous 12 months was assessed by means of Food Frequency Questionnaires. Dairy products included milk, yogurt, yogurt drinks, cheese and dishes prepared with dairy products, and were classified as full or low fat (1-2 percent).

Butter and cream were assessed separately as these are not commonly eaten in some of the countries studied.

Information on personal medical history, use of prescription medicines, educational attainment, smoking and measurements of weight, height, waist circumference, blood pressure and fasting blood glucose were also collected.

Data on all five components of the metabolic syndrome were available for nearly 113,000 people: blood pressure above 130/85 mm Hg; waist circumference above 80 cm; low levels of (beneficial) high-density cholesterol (less than 1-1.3 mmol/l); blood fats (triglycerides) of more than 1.7 mmol/dl; and fasting blood glucose of 5.5 mmol/l or more.

Average daily total dairy consumption was 179 g, with full-fat accounting for around double the amount of low fat: 124.5+ vs 65 g.

Some 46, 667 people had metabolic syndrome--defined as having at least 3 of the 5 components.

Total dairy and full-fat dairy, but not low-fat dairy, was associated with a lower prevalence of most components of metabolic syndrome, with the size of the association greatest in those countries with normally low dairy intakes.

At least 2 servings a day of total dairy were associated with a 24 percent lower risk of metabolic syndrome, rising to 28 percent for full-fat dairy alone, compared with no daily dairy intake.

The health of nearly 190,000 participants was tracked for an average of nine years, during which time 13,640 people developed high blood pressure and 5351 developed diabetes.

At least 2 servings a day of total dairy was associated with a 11-12 percent lower risk of both conditions, rising to a 13-14 percent lower risk for 3 daily servings. The associations were stronger for full fat than they were for low-fat dairy.

This is an observational study, and as such can't establish the cause. Food frequency questionnaires are also subject to recall, and changes in metabolic syndrome weren't measured over time, all of which may have influenced the findings.

Nevertheless, the researchers suggest: "If our findings are confirmed in sufficiently large and long term trials, then increasing dairy consumption may represent a feasible and low-cost approach to reducing [metabolic syndrome], hypertension, diabetes, and ultimately cardiovascular disease events worldwide."

Comments

Add new comment

About text formats
  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
Agencies
February 26,2020

Feb 26: While too much stress can be toxic to your health, a new study suggests that despite its negative side effects, it may also lead to a surprising social benefit.

The research, published in the journal Stress & Health, found that experiencing stress made people both more likely to give and receive emotional support from another person.

This was true on the day they experienced the stressor as well as the following day.

"Our findings suggest that just because we have a bad day, that doesn't mean it has to be completely unhealthy," said study researcher David Almeida from Penn State University in the US.

"If stress can actually connect us with other people, which I think is absolutely vital to the human experience, I think that's a benefit. Stress could potentially help people deal with negative situations by driving them to be with other people," Almeida added.

For the study, the researchers interviewed 1,622 participants every night for eight nights. They asked the participants about their stressors and whether they gave or received emotional support on that day.

Stressors included arguments, stressful events at work or school, and stressful events at home.

The researchers found that on average, participants were more than twice as likely to either give or receive emotional support on days they experienced a stressor.

Additionally, they were 26 per cent more likely to give or receive support the following day.

The researchers said that while this effect, on average, was found across the participants, it differed slightly between men and women.

"Women tended to engage in more giving and receiving emotional support than men," said study researcher Hye Won Chai.

"In our study, men were also more likely to engage in emotional support on days they were stressed, but to a lesser extent than women," Chai added.

The researchers said they were surprised that stress was linked to people not just receiving emotional support, but giving it, as well.

"We saw that someone experiencing a stressor today actually predicted them giving emotional support the next day," Almeida said.

"This made me think that it's actually possible that stress helps to drive you to other people and allows it to be ok to talk about problems -- your problems, my problems," Almeida added.

Comments

Add new comment

About text formats
  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.