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Genetic abnormalities leading to multiple myeloma among Indians studied

Agencies
March 13, 2018

In India, incidence of multiple myeloma affects 1.8 per cent in a population of 100,000. Approximately, 50,000 new cases of multiple myeloma are diagnosed each year. A recent study conducted by CORE Diagnostics reveal that genetic abnormalities are more prevalent among younger median age of 50 years to 70 years, which forms 65 per cent of total multiple myeloma cases.

Out of 1001 cases, 37 per cent were found positive for various abnormalities like; Del13q(RB1), Del17p(TP53), t (4;14), t(11;14), t(14;16), 1q, Hypodiploidy and Hyperdipolidy etc.

The study aimed to find out the frequency of Cytogenetic aberrations in multiple myeloma patients in Indian perspective. The retrospective observational study included 1001 patients falling in the age bracket of 21-90 years and was carried on over a course of three years from January 2015 to January 2018 at CORE Diagnostics.

The study was conducted using Plasma Cell Enrichment Technique, which is a more accurate mechanism for separating plasma cells from other cells during testing. The test has revolutionized genetic analysis and enabled precise determination of the presence and frequency of genetic abnormalities.

“Majority of the studies on genetic aberrations in multiple myeloma include western population. Our study includes 1001 Indian patients, which would help in better understanding of genetic abnormalities among Indian population. We used Plasma Cell Enrichment Technique for the study which is a path breaking technique available at only a handful of centers in India. The results will definitely prove to be beneficial to understand the disease in a better way”, said Dr. Mohit Bhardwaj, PhD Lead Cytogeneticist, CORE Diagnostics.

Multiple myeloma is also known as plasma cell myeloma and is a cancer of plasma cells, a type of white blood cell. Usually, the disease does not exhibit any major symptoms initially and symptoms like bone pain, bleeding, frequent infections andanemia generally occur at a later stage.

The cause of this ailment is still unknown; however, the risk factors include drinking alcohol, obesity, radiation exposure, family history and certain chemicals.

Multiple myeloma involves abnormal plasma cells producing abnormal antibodies which can cause kidney problems and overly thick blood. The plasma cells also sometimes form a mass in the bone marrow or soft tissue. When only one mass is present, it is known as a plasmacytoma while more than one is known as multiple myeloma.

Multiple myeloma is diagnosed using blood or urine samples which help in finding abnormal antibodies. Besides this, bone marrow biopsy helps in finding cancerous plasma cells and medical imaging in finding bone lesions. Although, considered to be a treatable disease, multiple myeloma is generally incurable.

Relief can be derived through chemotherapy, steroids, thalidomide or lenalidomide and stem cell transplant. Bisphosphonates and radiation therapy is also used to reduce pain from bone lesions.

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Agencies
January 4,2020

Washington D.C., Jan 3: A new study has found out that diet significantly affects the mental health and well being of an individual.

The study was published in the journal European Neuropsychopharmacology.

"We have found that there is increasing evidence of a link between a poor diet and the worsening of mood disorders, including anxiety and depression. However, many common beliefs about the health effects of certain foods are not supported by solid evidence," said the lead researcher, Professor Suzanne Dickson.

According to the researchers, the link between diet and mental health can be firmly established in certain cases like that of the ability of a ketogenic diet being helpful for children with epilepsy and the impact of vitamin B12 deficiency on poor memory, depression and fatigue.

"With individual conditions, we often found very mixed evidence. With ADHD for example, we can see an increase in the quantity of refined sugar in the diet seems to increase ADHD and hyperactivity, whereas eating more fresh fruit and vegetables seems to protect against these conditions," said Dickson

But there are comparatively few studies, and many of them don't last long enough to show long-term effects," added Dickson.

The study further concludes that some food items can be associated with treatment and the betterment of certain mental health conditions.

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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

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Agencies
May 19,2020

New York, May 19: Cigarette smoke spurs the lungs to make more of the receptor protein which the novel coronavirus uses to enter human cells, according to a study which suggests that quitting smoking might reduce the risk of a severe coronavirus infection.

The findings, published in the journal Developmental Cell, may explain why smokers appear to be particularly vulnerable to severe COVID-19 disease.

"Our results provide a clue as to why smokers who develop COVID-19 tend to have poor clinical outcomes," said study senior author Jason Sheltzer, a cancer geneticist at Cold Spring Harbor Laboratory in the US.

"We found that smoking caused a significant increase in the expression of ACE2, the protein that SARS-CoV-2 uses to enter human cells," Sheltzer said.

According to the scientists, quitting smoking might reduce the risk of a severe coronavirus infection.

They said most individuals infected with the virus suffer only mild illness, if they experience any at all.

However, some require intensive care when the sometimes-fatal virus attacks, the researchers said.

In particular, they said three groups have been significantly more likely than others to develop severe illness -- men, the elderly, and smokers.

Turning to previously published data for possible explanations for these disparities, the scientists assessed if vulnerable groups share some key features related to the human proteins that the coronavirus relies on for infection.

First, they said, they focused on comparing gene activity in the lungs across different ages, between the sexes, and between smokers and nonsmokers.

The scientists said both mice that had been exposed to smoke in a laboratory, and humans who were current smokers had significant upregulation of ACE2.

According to Sheltzer, smokers produced 30-55 per cent more ACE2 than their non-smoking counterparts.

While the researchers found no evidence that age or sex impacts ACE2 levels in the lungs, they said the influence of smoke exposure was surprisingly strong.

However, they said, the change seemed to be temporary.

According to the data, the level of the receptors ACE2 in the lungs of people who had quit smoking was similar to that of non-smokers.

The study noted that the most prolific producers of ACE2 in the airways are mucus-producing cells called goblet cells.

Smoking is known to increase the prevalence of such cells, the scientists said.

"Goblet cells produce mucous to protect the respiratory tract from inhaled irritants. Thus, the increased expression of ACE2 in smokers' lungs could be a byproduct of smoking-induced secretory cell hyperplasia," Sheltzer explained.

However, Sheltzer said other studies on the effects of cigarette smoke have shown mixed results.

"Cigarette smoke contains hundreds of different chemicals. It's possible that certain ingredients like nicotine have a different effect than whole smoke does," he said.

The researchers cautioned that the actual ACE2 protein may be regulated in ways not addressed in the current study.

"One could imagine that having more cells that express ACE2 could make it easier for SARS-CoV-2 to spread in someone's lungs, but there is still a lot more we need to explore," Sheltzer said.

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