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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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BOSTON — Although past research has shown a link between severe sleep dysfunction and psychological symptoms, new research suggests that even mildly insufficient sleep duration can have an adverse effect.

Examining data from a nationwide telephone survey of more than 20,000 adult participants, the investigators found that each hour of additional sleep was significantly linked to a decreased risk for symptoms of depression, hopelessness, nervousness, and feeling restless or fidgety.

On the other hand, too little sleep was associated with a higher risk for each of these adverse outcomes compared with optimal sleep (defined as 7 to 9 hours per night).

In addition, "getting just 1 hour less than the optimum sleep duration was associated with 60% to 80% increased odds of each of these symptom," lead author, Kelly L. Sullivan, PhD, assistant professor at Georgia Southern University, Statesboro, said during her presentation here at the American Academy of Neurology 2017 Annual Meeting (AAN).


Metastatic prostate cancer is considered to be incurable. But now a pilot trial, in 20 selected men with early-stage metastatic prostate cancer, has shown that aggressive multimodality treatment with hormone therapy, surgery, and radiation "can eliminate detectable disease."

Overall, 20% of the patients treated reached the primary endpoint — undetectable prostate-specific antigen (PSA) and noncastrate levels of testosterone at 20 months, which the authors described as "no evidence of disease" (NED).

This endpoint "could not have been achieved with any single therapy alone," they note.

"Although longer follow-up is needed to assess durability, this binary end point represents a first step toward establishing a paradigm of cure in patients with low-volume metastatic disease," they conclude.

First author is Matthew J. O'Shaughnessy, MD, PhD, from the urology service, Department of Surgery, and senior author is Howard Scher, MD, chief of the genitourinary oncology service, both at Memorial Sloan Kettering Cancer Center in New York City.

The study was published in the April issue of Urology.

"The paradigm outlined here represents an important step forward in attempting to cure patients who have previously been viewed as being incurable," comments Oliver Sartor, MD, from Tulane University School of Medicine, New Orleans, Louisiana, in an accompanying editorial comment.Metastatic prostate cancer is considered to be incurable. But now a pilot trial, in 20 selected men with early-stage metastatic prostate cancer, has shown that aggressive multimodality treatment with hormone therapy, surgery, and radiation "can eliminate detectable disease."

Overall, 20% of the patients treated reached the primary endpoint — undetectable prostate-specific antigen (PSA) and noncastrate levels of testosterone at 20 months, which the authors described as "no evidence of disease" (NED).

This endpoint "could not have been achieved with any single therapy alone," they note.

"Although longer follow-up is needed to assess durability, this binary end point represents a first step toward establishing a paradigm of cure in patients with low-volume metastatic disease," they conclude.

First author is Matthew J. O'Shaughnessy, MD, PhD, from the urology service, Department of Surgery, and senior author is Howard Scher, MD, chief of the genitourinary oncology service, both at Memorial Sloan Kettering Cancer Center in New York City.

The study was published in the April issue of Urology.

"The paradigm outlined here represents an important step forward in attempting to cure patients who have previously been viewed as being incurable," comments Oliver Sartor, MD, from Tulane University School of Medicine, New Orleans, Louisiana, in an accompanying editorial comment.


For Mazhar Adli, the little glowing dots dancing about on the computer screen are nothing less than the fulfillment of a dream. Those fluorescent dots, moving in real time, are set to illuminate our understanding of the human genome, cancer and other genetic diseases in a way never before possible.

Adli, of the University of Virginia School of Medicine's Department of Biochemistry and Molecular Genetics, has developed a way to track genes inside living cells. He can set them aglow and watch them move in three dimensions, allowing him to map their positions much like star charts record the shifting heavens above. And just as the moon influences the tides, the position of genes influences the effects they have; thus, 3D maps of gene locations could lead scientists to a vastly more sophisticated appreciation of how our genes work and interact -- and how they affect our health.

"This has been a dream for a long time," Adli said. "We are able to image basically any region in the genome that we want, in real time, in living cells. It works beautifully. … With the traditional method, which is the gold standard, basically you will never be able to get this kind of data, because you have to kill the cells to get the imaging. But here we are doing it in live cells and in real time."

Understanding DNA

DNA is often depicted as tidy strands stretched out in straight lines. But in reality, our DNA is clumped up inside the nuclei of our cells like cooked spaghetti. "We have two meters of DNA folded into a nucleus that is so tiny that 10,000 of them will fit onto the tip of a needle," Adli explained. "We know that DNA is not linear but forms these loops, these large, three-dimensional loops. We want to basically image those kind of interactions and get an idea of how the genome is organized in three-dimensional space, because that's functionally important."


Identification of a specific genetic mutation in patients with non-small-cell lung cancer (NSCLC) helps clinicians select the best treatment option. Potential NSCLC patients usually undergo invasive tissue biopsy, which may often be unnecessary and delays treatment. A report in The Journal of Molecular Diagnostics describes a new blood test that can accurately and quickly identify genetic mutations associated with NSCLC, allowing clinicians to make earlier, individualized treatment choices - a step forward in personalized cancer treatment.

"This study is critical because it is the first to demonstrate the uptake of blood-based testing for actionable mutations in the non-hospital (community) setting. Physicians and patients in a community setting may not have easy access to a large hospital or other diagnosis/treatment facility. This assay provides results within 72 hours from sample receipt," explained Gary A. Pestano, PhD, Vice President of Development and Operations of Biodesix, Inc., a co-inventor of the test.

An actionable mutation plays an important role in the development or progression of a tumor. Specific therapies that target a mutation can improve outcomes, such as reducing the risk of death or lessening the severity of disease.

In the case of NSCLC, certain genetic mutations can be used to identify patients who might be sensitive or resistant to a particular cancer therapy. For example, epidermal growth factor (EGFR) mutations may result in sensitivity to drugs that are EGFR tyrosine kinase inhibitors (TKIs), such as erlotinib or gefitinib, whereas individuals with the EGFR T790M mutation are more resistant to these drugs. Patients with ALK rearrangements do not respond to EGFR-TKIs, but are sensitive to other targeted therapies (such as ceretinib). "The described assay can detect actionable mutations in patients diagnosed with earlier stages of NSCLC, thereby improving clinical outcomes," remarked Dr. Pestano.


The millions of Americans prescribed short-term oral corticosteroids are taking a dose of risk along with their medication, according to a cohort study of more than 1.5 million adults.

Within 30 days of initiating these drugs, even at relatively low doses, users had a nearly twofold increased risk for fracture, a threefold increased risk for venous thromboembolism, and a fivefold increased risk for sepsis.

"Greater attention to initiating prescriptions of these drugs and monitoring for adverse events may potentially improve patient safety," write Akbar K. Waljee, MD, an assistant professor of gastroenterology at the University of Michigan in Ann Arbor, and colleagues. They present their findings in an article published April 12 in the BMJ.

They found that more than one in five adults included in the Clinformatics DataMart, a large national database of commercial insurance claims, received prescriptions for short-term oral corticosteroids during the 3-year study, which ran from January 1, 2012, to December 31, 2014.

 

Although corticosteroids are among the most common cause for hospitalization for drug-related adverse events, and various specialties have long focused on optimizing their long-term use, the short-term risks associated with the drugs have been less carefully studied.


People living in areas that restrict trans fats in foods had fewer hospitalizations for heart attack and stroke compared to residents in areas without restrictions, according to a study led by a Yale researcher. This finding suggests the benefit of limiting trans fats could have widespread impact as trans fat restrictions are set to expand nationwide.

The study was published April 12 in JAMA Cardiology.

Trans fatty acids, or trans fats, are commonly found in foods such as chips, crackers, fried foods, and baked goods. Minimal amounts of trans fat intake are linked to greater risk of cardiovascular disease, the leading cause of death worldwide. In recent years, localities like New York City enacted policies to reduce trans fats in restaurants and other eateries. In 2018, an FDA ban on partially hydrogenated oil in foods, which will nearly eliminate dietary trans fat, takes effect nationwide.


A groundbreaking trial of yoga as an intervention to relieve the side effects of prostate cancer treatment had a lot of initial doubters, said senior author, Neha Vapiwala, MD, a radiation oncologist at the University of Pennsylvania in Philadelphia.

Feasibility was the big unknown and caused the investigators to wonder: "Will men even sign up?" she recounted to Medscape Medical News.

Yoga's been studied as a tool to mitigate treatment side effects in patients with breast cancer, but never in prostate cancer. Dr Vapiwala said there are "myths" that men don't practice yoga and that "men with prostate cancer aren't interested in that kind of stuff."

She heard other criticisms as well because, after all, guys with prostate cancer are typically older than retirement age: "Everyone said they wouldn’t do it."

Worse yet, even she and her colleagues were doubters of a kind, harboring a fear of rejection: that they would seek to enroll men, who, in turn, "would laugh."

Instead, they got a "staggering" response, but many of the men could not ultimately participate because of scheduling conflicts, she told Medscape Medical News. "They're not the men who you would think. They're not all fitness buffs. We got everyone."

Male intuition might have been at work.

It turned out that, in the new randomized clinical trial, yoga relieved the side effects of radiotherapy and hormone therapy. That is, the men who practiced the ancient modality reported less fatigue and better sexual and urinary function compared with men who did not do yoga.


Colorectal cancer patients with certain genetic backgrounds may benefit more from taking aspirin to prevent cancer reoccurrence, based on a study conducted by researchers at the Baylor Scott & White Health Research Institute.

The study, published this month in Cancer Prevention Research, examined how aspirin influences the growth of cultured colorectal cancer cells with a variety of different mutational backgrounds and aimed to explain why aspirin is more effective in some patients than others. Previous studies have demonstrated that taking 600 milligrams of aspirin per day for two years resulted in a 63 percent reduction in colorectal cancer incidence.

"Aspirin has promising potential for reducing the risk of colorectal cancer, but it's also associated with side effects such as gastrointestinal bleeding, which can be concerning and sometimes fatal," said Ajay Goel, Ph.D., director of gastrointestinal research and translational genomics and oncology at Baylor Scott & White Research Institute and one of the lead authors of the study. "If we can better predict whether a patient will benefit from taking aspirin to prevent cancer reoccurrence, we can more widely recommend it and potentially save more lives."


A new study finds that women who experience frequent hot flashes in younger midlife (age 40 - 53 years) may be more likely to have poor vascular function regardless of cardiovascular disease (CVD) risk factors or estradiol levels. These findings were published online April 12 in Menopause.

"[I]mpairment in endothelial function is an initiating event in the atherosclerotic process, and thereby frequent hot flashes may mark emerging vascular dysfunction among early midlife women," write Rebecca C. Thurston, PhD, from the University of Pittsburgh School of Medicine, Pennsylvania, and colleagues.

Researchers evaluated data from 272 nonsmoking women aged 40 to 69 years who were late perimenopausal (2 - 12 months amenorrhea) or postmenopausal (≥12 months amenorrhea). The study excludes women with CVD, neoplasia, hysterectomy, and/or bilateral oophorectomy, kidney failure, seizures, Parkinson's disease, Raynaud's phenomenon, or current pregnancy. The researchers also excluded women with a history of recent use of reproductive hormone agents, serotonin reuptake inhibitors, insulin, or cardiovascular drugs. On average, participants were 54 years of age, white, college educated, and postmenopausal and had a relatively favorable CVD risk factor profile.

All women underwent physical examinations, brachial artery flow-mediated dilation (FMD) to assess endothelial function, carotid artery ultrasound, blood draw, and ambulatory hot flash monitoring, using an electronic hot flash diary (3 days), a wrist actigraph (3 days), and a physiologic hot flash monitor (24 hours). Menopause status was assessed from reported menstrual bleeding patterns. Estradiol levels (E2), glucose, high-density lipoprotein cholesterol, triglycerides, total cholesterol, insulin, C-reactive protein, and interleukin 6 were evaluated.

 

 


The way is open for the use of genetics in training

For a few years, running has been fashionable. But there is a great difference between the physical demands of running a few kilometres and doing a marathon. Now Spanish researchers have concluded that genetics plays an essential role in success when completing this long distance.

More than 2,500 years have passed since Pheidippides, the hero from ancient Greece, inspired a modern sporting event: the marathon. In their desire to imitate him, thousands of runners participate in this competition every week, taking advantage of the fact that most cities in the world encourage the practice of running.

However, competing in a marathon involves an enormous physiological commitment from various systems: the respiratory, cardiovascular and musculoskeletal systems. This is explained by Juan Del Coso, from the Exercise Physiology Laboratory of the Camilo José Cela University.

"With regard to muscle demands, completing a marathon requires approximately 30,000 strides, while the legs absorb between 1.5 and 3 times the body weight of the runner every step," the researcher told SINC.

In this manner, the contractions of the leg muscles, repeated continuously during the competition to bear the pace of the race, cause progressive deterioration in the muscle fibres as a result of the very intense and prolonged effort.

This muscle damage has two main consequences. On one hand, the damaged muscle loses the ability to produce strength, which is related to the 'wall' -faintness after the depletion of energy reserves- which support runners when they have completed 35km of the race.

 

Researchers have identified the genetic mutation responsible for one patient's serious health problems, finally solving a medical mystery that has endured for over 30 years. Thanks to this discovery, the researcher developed a therapy that could also help a lot of people who have problems related to the immune system, whether they are genetic or due to a transplant or an illness.

"In the laboratory, we demonstrated that a molecule called Morpholino Antisense Oligonucleotide could correct this kind of genetic anomaly and allow the patient's immune system to function properly," explains Dr. Donald Vinh, a researcher at the Research Institute of the McGill University Health Centre (RI-MUHC) and the principal author of the study published in the Journal of Allergy and Clinical Immunology.

Steven Francis, the MUHC patient at the centre of this discovery, has dealt with significant health issues his whole life. Followed at the MUHC since childhood, he has faced sinus infections, fungal infections, inflammations of the colon, shingles, respiratory problems, renal issues, and impeded growth, throughout all of which doctors were unable to discover an underlying cause; they suspected that it was genetic, but were unable to prove it. His family went so far as to consult specialists in the United States without success.

The tide finally turned in his favour when Dr. Vinh examined his case in 2012. "When this patient was referred to me, I went over his entire file in detail, covering some 30 years and literally filling two large cardboard boxes. I also looked at his family history. Since the 1980s, many new immune deficiencies have been identified, and I was able to apply the knowledge from these advances to solve the case," he explains.

 

NEW DELHI: A 42-year-old domestic help will go down in history as the man who persuaded the Supreme Court to shut down a mobile phone tower on the ground that its electromagnetic radiation+ afflicted him with cancer.

Last year, Harish Chand Tiwari, who works at the residence of Prakash Sharma in the Dal Bazar area of Gwalior, moved the SC through advocate Nivedita Sharma, complaining that a BSNL tower illegally installed on a neighbour's rooftop in 2002 had exposed him to harmful radiation 24x7 for the last 14 years.

The order is likely to further fuel the debate over the effects of radiation from mobile phone towers+ with a section of activists feeling vindicated while the government argues there is no evidence to prove that the waves cause cancer.

Radiation from the BSNL tower, less than 50 metres from the house where he worked, afflicted him with Hodgkin's Lymphoma caused by continuous and prolonged exposure to radiation, Tiwari complained.

In a recent order, a bench of Justices Ranjan Gogoi and Navin Sinha said, "We direct that the particular mobile tower shall be deactivated by BSNL within seven days from today." The tower will be the first to be closed on an individual's petition alleging harmful radiation.

The SC, which began hearing the issue relating to radiation from cell towers from March 18 last year, had asked the parties to file additional documents to show that 


In overweight and obese children and adolescents, vitamin D deficiency is associated with early markers of cardiovascular disease, a new study reports. The research results will be presented Sunday, April 2, at ENDO 2017, the annual scientific meeting of the Endocrine Society, in Orlando.

"Pediatric obesity affects 17 percent of infants, children, and adolescents ages 2 to 19 in the United States, and obesity is a risk factor for vitamin D deficiency. These findings suggest that vitamin D deficiency may have negative effects on specific lipid markers with an increase in cardiovascular risk among children and adolescents," said lead author Marisa Censani, M.D., pediatric endocrinologist and director of the Pediatric Obesity Program in the Division of Pediatric Endocrinology at New York Presbyterian Hospital/Weill Cornell Medicine in New York, N.Y.