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
June 19,2020

While coughing, fever and difficulty in breathing are common symptoms of COVID-19, a new case study has found that pink eye is also a reason to be tested for the disease.

The study, published in the Canadian Journal of Ophthalmology, determined that conjunctivitis and keratoconjunctivitis can also be primary symptoms of COVID-19.

The researchers noted that in March, a 29-year-old woman arrived at the Royal Alexandra Hospital's Eye Institute of Alberta with a severe case of conjunctivitis and minimal respiratory symptoms.

After the patient had undergone several days of treatment with little improvement -- and after it had been determined that the woman had recently returned home from Asia -- a resident ordered a COVID-19 test.

The test came back positive, according to the researchers.

"What is interesting in this case, and perhaps very different to how it had been recognised at that specific time, was that the main presentation of the illness was not a respiratory symptom. It was the eye," said Carlos Solarte, an assistant professor at the University of Alberta in Canada.

"There was no fever and no cough, so we weren't led to suspect COVID-19 at the beginning. We didn't know it could present primarily with the eye and not with the lungs," Solarte said.

Academic studies at the outset of the pandemic identified conjunctivitis as a secondary symptoms in about 10 to 15 per cent of COVID-19 cases, he said.

Since then, scientists have gained greater knowledge of how the virus can transmit through and affect the body's mucous membrane system, of which the conjunctiva -- the clear, thin membrane that covers the front surface of the eye -- is an extension.

While the finding provides important new health information for the public, it also makes eye exams more complicated for ophthalmologists and staff, the researchers noted.

"The patient in this case eventually recovered well without any issues. But several of the residents and staff who were in close contact with the patient had to be under quarantine," said Solarte.

"Fortunately, none who were involved in her care also tested positive," he said.

Patients coming into an eye clinic with conjunctivitis and keratoconjunctivitis are now treated as potential cases of COVID-19 and extra precautions are taken by staff, according to the researchers.

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News Network
February 21,2020

Washington, Feb 21: The fat around arteries may play an important role in keeping the blood vessels healthy, according to a study in rats that may affect how researchers test for treatments related to plaque buildup, as seen in conditions leading to heart attack.

The study, published in the journal Scientific Reports, noted that the fat, known as perivascular adipose tissue, or PVAT, helps arteries let go of muscular tension while under constant strain.

According to the researchers, including Stephanie W. Watts from the Michigan State University in the US, this feature is similar to how the bladder expands to accommodate more liquid, while at the same time keeping it from spilling out.

"In our study, PVAT reduced the tension that blood vessels experience when stretched," Watts said.

"And that's a good thing, because the vessel then expends less energy. It's not under as much stress," she added.

According to Watts and her team, PVAT has largely been ignored by researchers believing its main job was to store lipids and do little more.

Until now, she said, scientists only divided blood vessels into three parts, the innermost layer called the tunica intima, the middle layer called the tunica media, and the outermost layer called the tunica adventitia.

Watts believes PVAT is the fourth layer, which others have called tunica adiposa.

Tunica, she said, meant a membranous sheath enveloping or lining an organ, and adiposa is a synonym for fat.

"For years, we ignored this layer -- in the lab it was thrown out. In the clinic it wasn't imaged. But now we're discovering it may be integral to our blood vessels," Watts said.

"Our finding redefines what the functional blood vessels are, and is part of what can be dysfunctional in diseases that afflict us, including hypertension. We need to pay attention to this layer of a blood vessel because it does far more than we originally thought," she added.

Earlier studies, Watts said, had shown that PVAT plays a role in the functioning of blood vessels, finding that it secretes substances that can cause blood vessels to relax as well as substances that can cause it to contract.

In the current study, the researchers decided to test whether PVAT provides a structural benefit to arteries by assisting the function of stress relaxation.

They tested the thoracic aorta in rats, and found those with intact PVAT had more stress relaxation than those without.

The study revealed that the pieces of artery with surrounding fat had measurably relaxed more than those without.

Watts and her colleagues then tested other arteries, and were able to duplicate the same response.

"It's not something you see only in this particular vessel or this particular species or this particular strain. But that maybe it's a general phenomenon," she said.

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Agencies
July 2,2020

London, Jul 2: The World Health Organisation says smoking is linked to a higher risk of severe illness and death from the coronavirus in hospitalised patients, although it was unable to specify exactly how much greater those risks might be.

In a scientific brief published this week, the U.N. health agency reviewed 34 published studies on the association between smoking and Covid-19, including the probability of infection, hospitalisation, severity of disease and death.

WHO noted that smokers represent up to 18% of hospitalised coronavirus patients and that there appeared to be a significant link between whether or not patients smoked and the severity of disease they suffered, the type of hospital interventions required and patients' risk of dying.

In April, French researchers released a small study suggesting smokers were at less risk of catching Covid-19 and planned to test nicotine patches on patients and health workers — but their findings were questioned by many scientists at the time who cited the lack of definitive data.

WHO says "the available evidence suggests that smoking is associated with increased severity of disease and death in hospitalized Covid-19 patients. It recommends that smokers quit.

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