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Salil Vaniawala
Dr. Salil N.Vaniawala
S N Genelab & Research Centre.

It gives me immense pleasure to give an insight about our laboratory.
Today genetic and molecular testing has become pertinent part of diagnosis for various ailments like cancer, infertility and infectious diseases like HIV, HCV, and HBV etc.

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A study led by the University of Birmingham has made a breakthrough in the understanding of how different genetic mutations cause acute myeloid leukemia.

One of the most common acute leukemia's in adults with around 2,400 people in the UK diagnosed with the disease each year, the survival rates for those diagnosed with acute myeloid leukemia are very poor and new treatments are needed.

Researchers at the Universities of Birmingham and Newcastle worked in collaboration to study the DNA of two types of acute myeloid leukemia in an effort to explain how clinical prognosis can differ.

Professor Constanze Bonifer, of the Institute of Cancer and Genomic Sciences at the University of Birmingham, said: "Is has been known for a long time that acute myeloid leukemia is highly heterogeneous, involving different disease-causing genetic mutations.

"This in turn leads to highly variable clinical outcomes, with some patients responding better to certain treatments than others.

"Prior to this study, the reason for the differences in response to treatment was unknown.

"We discovered how two closely related oncogenes - genes which have the potential to cause cancer - differently reprogram blood stem cells in acute myeloid leukemia and send them spiraling out of control."

The study, published today in Cell Reports, highlights the difficulties faced in understanding the heterogeneity of the disease.

Dr Justin Loke, a Kay Kendall Clinical Fellow from Birmingham Queen Elizabeth Hospital's Haematology Department which is affiliated with the University of Birmingham's Institute of Cancer and Genomic Sciences, added: "We used state-of-the-art molecular technology that studies all genes within leukaemic cells to investigate why two types of the disease with mutations in the same gene display a completely different clinical profile.

"We showed that the maintenance of the leukemic state of these two types of acute myeloid leukemia is dependent on different sets of normal genes, therefore identifying a route to developing tailored and personalized treatments for patients with different cancer-causing mutations in order to specifically target each tumor."

"This in turn leads to highly variable clinical outcomes, with some patients responding better to certain treatments than others.

"Prior to this study, the reason for the differences in response to treatment was unknown.

"We discovered how two closely related oncogenes - genes which have the potential to cause cancer - differently reprogram blood stem cells in acute myeloid leukemia and send them spiraling out of control."

The study, published today in Cell Reports, highlights the difficulties faced in understanding the heterogeneity of the disease.

Dr Justin Loke, a Kay Kendall Clinical Fellow from Birmingham Queen Elizabeth Hospital's Haematology Department which is affiliated with the University of Birmingham's Institute of Cancer and Genomic Sciences, added: "We used state-of-the-art molecular technology that studies all genes within leukaemic cells to investigate why two types of the disease with mutations in the same gene display a completely different clinical profile.

"We showed that the maintenance of the leukemic state of these two types of acute myeloid leukemia is dependent on different sets of normal genes, therefore identifying a route to developing tailored and personalized treatments for patients with different cancer-causing mutations in order to specifically target each tumor."

"This in turn leads to highly variable clinical outcomes, with some patients responding better to certain treatments than others.

"Prior to this study, the reason for the differences in response to treatment was unknown.

"We discovered how two closely related oncogenes - genes which have the potential to cause cancer - differently reprogram blood stem cells in acute myeloid leukemia and send them spiraling out of control."

The study, published today in Cell Reports, highlights the difficulties faced in understanding the heterogeneity of the disease.

Dr Justin Loke, a Kay Kendall Clinical Fellow from Birmingham Queen Elizabeth Hospital's Haematology Department which is affiliated with the University of Birmingham's Institute of Cancer and Genomic Sciences, added: "We used state-of-the-art molecular technology that studies all genes within leukaemic cells to investigate why two types of the disease with mutations in the same gene display a completely different clinical profile.

"We showed that the maintenance of the leukemic state of these two types of acute myeloid leukemia is dependent on different sets of normal genes, therefore identifying a route to developing tailored and personalized treatments for patients with different cancer-causing mutations in order to specifically target each tumor."

 


Otherwise healthy young people with high systolic blood pressure over 140 are at greater risk for future artery stiffening linked to an increased risk of stroke as well as possible damage to the kidneys and brain, new research shows.

The condition, called isolated systolic hypertension (ISH), occurs in people 18 to 49 who exhibit systolic blood pressure of 140 or higher (versus the optimal of under 120), but a normal diastolic pressure of around 80. Systolic pressure is the top number in a blood pressure reading and diastolic is the bottom number.

This study - the largest ever conducted in the U.S. looking at whether young, otherwise healthy ISH patients actually have a cardiovascular problem - suggests the common approach of ignoring higher systolic blood pressure levels in younger adults may be wrong, said study author Dr. Wanpen Vongpatanasin, Director of UT Southwestern Medical Center's Hypertension Program.

"I think we should consider treating these patients sooner rather than later," said Dr. Vongpatanasin, Professor of Internal Medicine in the Division of Cardiology at UT Southwestern Medical Center. "I'm concerned that not treating these individuals now will lead to more brain and kidney damage in the future. This condition is not going to get better. It's going to get worse."

Although the condition is commonly treated in elderly patients, some physicians have avoided treating it in younger patients, thinking the higher systolic reading was an anomaly related to youth that would self-correct, or perhaps even a sign of a stronger heart since it sometimes showed up in high school athletes, said Dr. Vongpatanasin, who holds the Norman and Audrey Kaplan Chair in Hypertension and the Fredric L. Coe Professorship in Nephrolithiasis in Mineral Metabolism at UT Southwestern.


Drinking as little as one small glass of wine or beer a day (about 10 g of alcohol) can increase the risk for breast cancer by 5% in premenopausal women and by 9% in postmenopausal women.

This latest warning comes from a new report issued by the American Institute for Cancer Research (AICR) and the World Cancer Research Fund (WCRF).  It reviewed 119 studies from around the world, with a total cohort of more than 12 million women and over 260,000 cases of breast cancer.

Commenting on the new finding, Susan K. Boolbol, MD, chief of the Division of Breast Surgery at Mount Sinai Beth Israel Hospital, New York, said, "We have known about the link between alcohol and breast cancer as several studies have shown the association. The issue with those studies is that we did not have an exact amount of alcohol that was known to increase your risk."

"This report clearly states that 1 drink per day will increase your risk. That is major news," Dr Boolbol said in a statement.

On the flip side, the report also found that vigorous exercise (such as running or fast cycling) reduced the risk for breast cancer in both pre- and postmenopausal women, and strong evidence confirmed earlier findings that moderate exercise (such as walking and gardening) also decreases the risk in postmenopausal women.

In premenopausal women, a statistically significant 17% decreased risk was observed (relative risk [RR], 0.83) when women with the highest levels of activity were compared with those who were least active.

The same protective effect was see in postmenopausal women, although to a slightly lesser degree; the most active women had a 10% (RR, 0.90) reduced risk, which was still statistically significant.


PITTSBURGH, Pennsylvania — Transcranial direct-current stimulation (tDCS) is gaining interest as a potentially useful nonpharmacologic approach to the treatment of chronic pain, with new research from a clinical randomized trial showing significant improvements in pain associated with knee osteoarthritis in older adults.

"We chose to test this on knee osteoarthritis because that is the leading cause of pain and disability in people aged 45 and above," Brian Ahn, PhD, RN, University of Texas Health Center at Houston, Texas, told Medscape Medical News.

"We found a statistically significant mean difference between patients receiving tDCS and a sham treatment in terms of clinical pain severity," he said.

TDCS has been evaluated for applications ranging from depression to stroke rehabilitation and cognitive aging and dementia, but the new study represents the first double-blind, randomized study of tDCS in chronic pain, Dr Ahn noted.

The study, presented here at the American Pain Society (APS) 2017 Annual Scientific Meeting, involved 40 adults aged 50 to 70 years (mean age, 59 years), including 21 women, with pain from knee osteoarthritis. They were randomly assigned to receive five daily sessions of tDCS or a sham treatment for 20 minutes in each session.

Because tDCS produces a tingling sensation, the sham treatment involved 30 seconds of tDCS current at the beginning of the session and 30 seconds at the end to provide a similar sensation. The current was delivered with a code that allowed the tDCS operator to be blinded to the treatment the patient was receiving.

The treatment involved placement of the anode electrode over the primary motor cortex of the brain hemisphere that was contralateral to the affected knee, and the cathode electrode was placed over the supraorbital regions ipsilateral to the affected knee.

The results, after the five daily sessions, showed a greater reduction in knee pain on a clinical pain severity scale of 0 to 100 in the tDCS group (18.50 ± 3.60) compared with  the sham group (6.45 ± 2.26), for a mean difference between the groups of 12.05 (P = .007; Cohen's d = 0.90).


The New England Journal of Medicine and Nature has published the first findings from the Cancer Research UK-funded Tracking Cancer Evolution through Treatment (Rx), TRACERx, lung cancer study, which reveals the increase in the risk of cancer relapse when lung tumors have unstable chromosomes. Scientists have used this new information to identify relapse long before standard testing.

TRACERx is the first study to focus on the enormous detail and development of cancer in real-time, which allows researchers to follow from diagnosis to recurrence of the disease or restored health after surgical procedures, monitoring and examining the development of the cancer in patients.

Professor Charles Swanton, lead researcher based at the Francis Crick Institute in London, said: "The TRACERx study is Cancer Research UK's single biggest investment in lung cancer, and for the first time we've revealed new insights into how tumors evolve and evade treatment, a leading cause of cancer death.”

"We believe that this invaluable data generated during TRACERx will be seized upon by research teams across the world, helping us to answer more questions about lung cancer biology. We've only scraped the surface in terms of what is possible by looking at tumor evolution in such detail."

The New England Journal of Medicine has published another study today, where researchers analyzed tumors from 100 non-small cell lung cancer (NSCLC) patients and found that the driving force behind genetic diversity within tumors is unstable chromosomes.


Feeling stressed? You’re not alone. According to the American Psychological Association, people are living with stress at levels higher than what is considered healthy. Unsurprisingly, the APA found the top four sources of stress to be money, work, family responsibilities, and health concerns.

Are you nervous about that project that’s due this week? Worried about the last of your sample that’s incubating in the lab? Perhaps you’re just convinced money is some sort of mythical object that you might one day catch a glimpse of. Or maybe you’re wondering how you might engineer a time machine to bring your daughter to jiu jitsu practice and pick up your son from daycare at the same time you’re supposed to be at your doctor’s appointment?

Even if none of these scenarios begin to scratch the surface for you, there is still hope for reducing the stress in your life. As we all know, too much stress can take a significant toll on your health. Not being able to cope with stress can lead to chronic diseases and accelerated aging (but don’t think about that too much, or risk adding it to your already lengthy list of stressors).

What you should think about, though, is turning to an ancient practice that reduces stress and improves your health. Epigenetic research is actually finding that the years-old act of meditation, particularly mindfulness meditation, has numerous health and stress-reducing benefits.

Mindfulness meditation is based off of Buddhist practices that emphasize aligning one’s focus with the present in a nonjudgmental way to increase awareness, calming the mind and body. Check out free guided meditations from UCLA Mindful Awareness Research Center for different meditation walkthroughs!

Epigenetics is an ever-growing field of research that focuses on the chemical modifications made to DNA that change phenotype without altering the underlying genetic sequence. DNA methylation and histone modifications are two of the most common epigenetic mechanisms that impact gene expression. New scientific studies are supporting and describing the molecular changes and epigenetics-related benefits that are linked to meditation.

If improving your health by simply relaxing sounds too good to be true, below are 3 ways meditation may epigenetically alleviate stress and improve your health:


Maybe you have seen a commercial for one of these tests during an NFL game or at the start of a Youtube video. In the ad, a woman described as 42 years old is getting ready to go surfing when she turns to the camera and says, "How old I am means less to me than how well I'm aging. My age is just 29 in TeloYears."

The TeloYears testing kit comes in the mail and costs less than $100. TeloYears and other similar tests provide consumers with a measurement of their telomeres, along with information about how to improve their telomere health through things like diet and exercise.

They also encourage consumers to buy additional tests in the future to find out if healthy lifestyle changes have improved their aging on a cellular level.

But can these tests really tell you how well you are aging? To find out, I did a little experiment. I ordered the TeloYears test and a competing test from a company called Titanovo.

TeloYears had me prick my finger to extract a few drops of blood. Titanovo had me swab my cheek with a Q-tip. Within a few minutes, I was ready to mail off my samples.

A few weeks later, I got my results. At first, I was pleasantly surprised. TeloYears said my telomeres were longer than 98 percent of men my age, making me 20 in TeloYears. I'm actually 27. So for a moment, I felt like I had won the telomere lottery.

Then I opened my Titanovo results.

Titanovo said my telomeres were shorter than 80 percent of men my age, making me biologically closer to 37.

These two tests — both claiming to provide insights about my aging based on an objective biomarker — completely disagreed.

I wondered what I should make of this. Should I be worried about the length of my telomeres, based on my Titanovo results? Or should I keep doing whatever it is I am doing to keep my telomeres nice and long, according to TeloYears? I called both companies to follow up on these conflicting results.

Dr. Douglas Harrington, medical director for the TeloYears test, said, "Our data is published. Our validation is open. We've got an extensive database. And I'm confident of our results. I can't speak to other laboratories."


A new study finds that dietary nitrate- a compound that dilates blood vessels to decrease blood pressure- may reduce overstimulation of the sympathetic nervous system that occurs with heart disease. The research team looked specifically at beetroot juice, a source of dietary nitrate, to explore its use as a future targeted treatment option for people with cardiovascular disease. The study, published ahead of print in the American Journal of Physiology- Heart and Circulatory Physiology, is the first to study the effects of nitrate supplementation on sympathetic nerve activity.

Activation of the sympathetic nervous system- caused by increased sympathetic nerve activity- include elevated heart rate and blood pressure and blood vessel constriction. Sympathetic nerve activity (sympathetic outflow) also increases with some forms of cardiovascular disease, including high blood pressure and heart failure. The aim of the study was to show that "acute nitrate supplementation using beetroot juice can decrease muscle sympathetic outflow at rest and during exercise," the Canadian research team wrote.

 


Quarterly corticosteroid injections for knee osteoarthritis increased cartilage loss over the course of 2 years without providing any clinical benefit, according to a randomized controlled trial published in the May 16 issue of JAMA.

"Although the cartilage loss was not associated with worsening of symptom outcomes, rates of cartilage loss have been associated with higher rates of arthroplasty, raising the possibility of potential for longer-term adverse consequences on the health of the joint," write Timothy E. McAlindon, MD, MPH, from Tufts Medical Center in Boston, Massachusetts, and colleagues.

The researchers compared outcomes between two groups of 70 patients, average age 58 years, with symptomatic knee osteoarthritis with synovitis, identified through ultrasonography. From February 2013 to January 2015, patients in one group received 40 mg triamcinolone in intra-articular injections, and those in the other group received placebo saline injections every 12 weeks for 2 years.

Patients underwent magnetic resonance imaging at the beginning and end of the study to provide data on cartilage volume and soft-tissue structures. Among the 119 patients who completed the study, those receiving triamcinolone lost about twice as much cartilage as those in the placebo group. Specifically, the intervention group lost an average 0.21 mm in index compartment cartilage thickness compared with 0.10 mm in the control group (for a mean difference of −0.11 mm: 95% confidence interval, −0.20 to −0.03 mm).

The researchers note that their findings differ from a smaller trial that used radiography to evaluate cartilage loss. "Radiography does not image cartilage directly and is insensitive to change, so it may not have detected the small changes in cartilage loss measured on the [magnetic resonance images] in this study." they write.

Patients rated pain scores on a Likert scale of 0 (no pain) to 20 (extreme pain). The intervention group reported a 1.2-point reduction in pain, which was 0.64 points less than the 1.9-point reduction pain reported in the control group (95% confidence interval, −1.6 to 0.29). Neither change reached the predefined value for minimal clinically important improvement of 3.94 points.


BOSTON — Nonstandard shifts and a circadian rhythm disturbance known as shift work sleep disorder contribute to a significant increase in urinary tract symptoms and reproductive problems, according to three studies conducted at the Baylor College of Medicine in Houston.

"A 45-year-old shift worker with shift work sleep disorder might look like a 75-year-old man in terms of his lower urinary tract symptoms," John Sigalos, a medical student and investigator on one of the studies, said here at the American Urological Association 2017 Annual Meeting.

The other studies presented demonstrate that male shift workers with shift work sleep disorder have lower testosterone levels and more hypogonadal symptoms than daytime workers, and that infertile shift workers, especially those who work rotating shifts, have significantly worse semen parameters than infertile men who work the day shift.

In the United States, approximately 15% of the labor force works late-night or rotating shifts.

Lower Urinary Tract Symptoms Study

To determine the effect of poor sleep quality and shift work on lower urinary tract symptoms, Sigalos and his colleagues retrospectively reviewed the medical records of men treated at the Baylor andrology clinic from 2014 to 2016.

All the men had completed the International Prostate Symptom Score (IPSS) to evaluate lower urinary tract symptoms, completed questionnaires about work schedules and sleep disorders, and had blood samples taken.

Of the 2487 participants, 766 (30.8%) reported working nonstandard shifts in the previous month and, of these, 36.8% were considered to be at high risk for sleep disorders.


Contrary to some claims, breast cancers that are detected by mammography screening do not spontaneously disappear or regress if they are not treated.

The results of a new study found that both invasive breast cancer and ductal carcinoma in situ (DCIS) will not simply vanish if left untreated. 

During a 10-year period, 240 cases of invasive breast cancer and 239 cases DCIS were not treated, and none were reported to have spontaneously vanished or regressed at the time of the next mammography.

The study has been published in the Journal of the American College of Radiology.

"All lesions were described in comparison to at least one previous mammogram," said author Debra Monticciolo, MD, professor of radiology at Texas A&M University Health Sciences, Temple. "The range of follow-up is 1 to 9 years, and our intention was to demonstrate that these lesions persist."

"Of the more than 36,000 cases, we found no evidence of lesion regression," she told Medscape Medical News.

Dr. Monticciolo noted that they did not look at why the lesions were left untreated. "It could have been a range of scenarios, and that was beyond the scope of our research," she said.

Overdiagnosis From Mammography

What happens to untreated breast cancer lesions has been an issue in the fierce debates in recent years about overdiagnosis due to routine screening mammography. For example, a recent major study with a prolonged follow-up time of 17 years found that breast cancer screening does not substantially reduce the incidence of advanced cancer over time but does significantly increase the detection of nonadvanced cancers, resulting in the overdiagnosis of disease.


BOSTON — Active surveillance is a safe and effective treatment option for young men (<60 years) with low-risk prostate cancer, according to a new cohort study presented here at the American Urological Association (AUA) 2017 Annual Meeting.

However, judging by comments made at the meeting, that message may be hard to hear and accept, even at academic medical centers.

Men younger than 60 years have outcomes that are "comparable" to those reported in the literature for older men, said lead study author Keyan Salari, MD, chief resident in urologic surgery at Massachusetts General Hospital (MGH) in Boston.

The new study involved 432 young men with low-risk disease who were managed with surveillance between 1990 and 2016 at MGH (n = 181) and Sunnybrook Health Sciences Center in Toronto, Ontario, Canada (n = 251).

Metastasis-free survival was 99.7% and 97.5% at 5 and 10 years, respectively.

Five patients developed metastasis (two with positive lymph nodes at time of radical prostatectomy, three with distant metastasis). There were no prostate-cancer specific deaths. The median follow-up was 5.1 years.

Typically, men of this younger age are counseled into treatment, said Dr Salari. That is because of their longer life expectancy, fewer comorbidities (compared with older men), and perceived likelihood of eventually needing definitive treatment.

There also have not been many data to indicate that watching these younger men was okay.