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
May 14,2020

COVID-19 mostly kills through an overreaction of the immune system, whose function is precisely to fight infections, say scientists who have decoded the mechanisms, symptoms, and diagnosis of the disease caused by the SARS-Cov-2 coronavirus.

In a study published in the journal Frontiers in Public Health, the researchers explained step-by-step how the virus infects the airways, multiplies inside cells, and in severe cases causes the immune defences to overshoot with a "cytokine storm".

This storm is an over-activation of white blood cells, which release too-great amounts of cytokines -- inflammation-stimulating molecules --into the blood, they said.

"Similar to what happens after infection with SARS and MERS, data show that patients with severe COVID-19 may have a cytokine storm syndrome," said study author Daishun Liu, Professor at Zunyi Medical University in China.

"The rapidly increased cytokines attract an excess of immune cells such as lymphocytes and neutrophils, resulting in an infiltration of these cells into lung tissue and thus cause lung injury," Liu said.

The researchers explained that the cytokine storm ultimately causes high fever, excessive leakiness of blood vessels, and blood clotting inside the body.

It also causes extremely low blood pressure, lack of oxygen and excess acidity of the blood, and build-up of fluids in the lungs, they said.

The researchers noted that white blood cells are misdirected to attack and inflame even healthy tissue, leading to failure of the lungs, heart, liver, intestines, kidneys, and genitals.

This multiple organ dysfunction syndrome (MODS) may worsen and shutdown the lungs, a condition called acute respiratory distress syndrome, (ARDS), they said.

This, the researchers explained, happens due to the formation of a so-called hyaline membrane -- composed of debris of proteins and dead cells -- lining the lungs, which makes absorption of oxygen difficult.

Most deaths due to COVID-19 are therefore due to respiratory failure, they said.

The researchers explained that in the absence of a specific antiviral cure for COVID-19, the goal of treatment must be to the fight the symptoms, and lowering the mortality rate through intensive maintenance of organ function.

For example, an artificial liver blood purification system or renal replacement therapy can be used to filter the blood through mechanical means, they said.

The team noted that especially important are methods to supplement or replace lung function, for example with non-invasive mechanical ventilation through a mask, ventilation through a tube into the windpipe, the administration of heated and humidified oxygen via a tube in the nose, or a heart-lung bypass.

The researchers stressed the importance of preventing secondary infections.

They noted that SARS-Cov-2 also invades the intestines, where it causes inflammation and leakiness of the gut lining, allowing the opportunistic entry of other disease-causing microorganisms.

The researchers advocate that this should be prevented with nutritional support, for example with probiotics -- beneficial bacteria that protect against the establishment of harmful ones -- and nutrients and amino acids to improve the immune defences and function of the intestine.

"Because treatment for now relies on aggressive treatment of symptoms, preventative protection against secondary infections, such as bacteria and fungi, is particularly important to support organ function, especially in the heart, kidneys, and liver, to try and avoid further deterioration of their condition," Liu added.

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Agencies
March 16,2020

New Delhi, Mar 16: A recent survey across 140 districts of the country shows that about 54 per cent of Indians are finding travelling to be unsafe as the deadly coronavirus (COVID-19) pandemic sweeps globally.

The big worry that people have is community transmission, something that researchers from around the world have approximated at 10 per cent of total infections and more common in places like Wuhan in China, South Korea, Iran and Italy.

The months of March to June have historically been high travel season for most Indians, largely due to the summer vacations in schools. "But it seems that Indians do not want to take a chance with this rather scary virus and are either cancelling or postponing their travel plans," concluded the survey by LocalCircles.

The survey gathered more than 22,000 responses from participants in tier one, two and three cities. It said 48 per cent Indians plan to cancel their international business travel for the next four months.

Besides, nearly 38 per cent of respondents said they had to pay cancellation fee to the website, travel agent, airline or railways.

"These are testing times for the entire travel and tourism industry -- airlines, hotels, travel agents as well as small tour and taxi operators. The best solution at this point is to adjust cost structures, stay flexible and work with a collective approach to minimise the period of impact to both citizens and business," said LocalCircles.

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Agencies
April 17,2020

Washington DC, Apr 17: In recent research, scientists have linked the emotional, social and psychiatric problems in children and adolescents with higher levels of genetic vulnerability for adult depression. The study implies that the genetics passed from parents may be linked with psychiatric problems in children and adolescents and may also leading to depression in adults.

University of Queensland scientists made the finding while analysing the genetic data of more than 42,000 children and adolescents from seven cohorts across Finland, the Netherlands, Norway, Sweden and the UK.

Professor Christel Middeldorp said that researchers have also found a link with a higher genetic vulnerability for insomnia, neuroticism and body mass index.

"By contrast, study participants with higher genetic scores for educational attainment and emotional well-being were found to have reduced childhood problems," Professor Middeldorp said.

"We calculated a person's level of genetic vulnerability by adding up the number of risk genes they had for a specific disorder or trait and then made adjustments based on the level of importance of each gene We found the relationship was mostly similar across ages," Middeldorp added.

The results indicate there are shared genetic factors that affect a range of psychiatric and related traits across a person's lifespan.

Middeldorp said that around 50 per cent of children and adolescents with psychiatric problems, such as attention deficit hyperactivity disorder (ADHD), continue to experience mental disorders as adults, and are at risk of disengaging with their school community among other social and emotional problems.

"Our findings are important as they suggest this continuity between childhood and adult traits is partly explained by genetic risk," the Professor said.

"Individuals at risk of being affected should be the focus of attention and targeted treatment," Middeldorp continued.

"Although the genetic vulnerability is not accurate enough at this stage to make individual predictions about how a person's symptoms will develop over time, it may become so in the future, in combination with other risk factors. And, this may support precision medicine by providing targeted treatments to children at the highest risk of persistent emotional and social problems," Middeldorp added.

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