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

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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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People who have the highest risk of developing type 2 diabetes should be offered a place on an intensive lifestyle change program, says the NHS standards watchdog.

Updated guidance from the National Institute for Health and Care Excellence (NICE) says around 1.7 million people could benefit from advice on their diet and physical activity levels.

Prevention Program Rollout

The NHS Diabetes Prevention Program started in 2016 with a first wave of 27 areas covering 26 million people and making up to 20,000 places available. The program is scheduled to roll out across England by 2020 with an expected 100,000 referrals available each year after.


NICE says it is currently cost-effective to target people with a fasting glucose between 5.5–6.9 mmol/l. However, it says those with a higher reading (6.5-6.9mmol/l) should be prioritised for inclusion because of their increased risk of developing type 2 diabetes.

Professor Mark Baker, director of the centre for guidelines at NICE, says in a statement: "We know that helping someone to make simple changes to their diet and exercise levels can significantly reduce their risk of developing type 2 diabetes. And that this approach is a cost-effective way of managing an illness that currently costs the NHS around £8.8 billion a year.

"We need to make sure that the people most at risk have access to the care they need."


Global alcohol producers are deliberately misleading the public and policymakers about cancer risks associated with alcohol, particularly breast and colorectal cancer, to protect profits at the expense of public health — just like Big Tobacco did, say researchers.

Qualitative analysis of all text related to cancer found on websites and in documents from 26 alcohol industry organizations shows that most of the information extensively misrepresents evidence about the association between alcohol and cancer, says Mark Petticrew, PhD, professor of public health evaluation in the Faculty of Public Health and Policy at London School of Hygiene and Tropical Medicine, United Kingdom, and colleagues.

A total of 24 organizational websites contain significant omissions and/or misrepresentations of the evidence linking alcohol to increased risk for many cancers, the study authors say in a report published online September 7 in Drug and Alcohol Review.

"It has often been assumed that, by and large, the AI [alcohol industry] unlike the tobacco industry, has tended not to deny the harms of alcohol," the investigators write. "Our analysis shows that, on the contrary, the global AI is currently actively disseminating misinformation about alcohol and cancer risk, particularly breast cancer.... The full scale and nature of these activities requires urgent investigation."


The study demonstrates that the alcohol industry and its communications partners or SAPROS (social aspects and public relations organizations) encourage "responsible drinking" using the three Ds: denial, distortion, and distraction. These strategies parallel those of the tobacco industry and allow alcohol producers to maintain "the illusion of rightness" with policymakers while eliminating any significant negative impact on consumption or profits, the study authors say.

"The most obvious parallel is with the global tobacco industry's decades-long campaign to mislead the public about the risk of cancer, which also used front organisations and CSR [corporate social responsibility] activities to mislead the public," the authors write."Our findings are also a reminder of the risk which accompanies giving to the AI the responsibility of informing the public about alcohol and health."

Even low levels of alcohol consumption are associated with an increased risk 

The program controls how and when brain genes are expressed at different times in a person's life to perform a range of functions, the study found.

Experts say the timing is so precise that they can tell the age of a person by looking at the genes that are expressed in a sample of brain tissue.

Scientists analyzed existing data which measured gene expression in brain tissue samples from across the human lifespan - from development in the womb up to 78 years of age.

They found the timing of when different genes are expressed follows a strict pattern across the lifespan.

Most of the changes in gene expression in the brain were completed by middle-age, the study found.

The gene program is delayed slightly in women compared with men, suggesting that the female brain ages more slowly than the male.

The biggest reorganization of genes occurs during young adulthood, peaking around age 26, the team found. These changes affected the same genes that are associated with schizophrenia.

The team says this could explain why people with schizophrenia do not show symptoms until young adulthood, even though the genetic changes responsible for the condition are present from birth.

The study found the genetic program is present in mice too, although it changes more rapidly across their shorter lifespan. This suggests that the calendar of brain aging is shared between all mammals and may be millions of years old.

Researchers next plan to study how the genetic program is controlled, which could lead to therapies that alter the course of brain aging, the scientists say.

It could also hold clues to new treatments for schizophrenia and other mental health problems in young adults.


Some stroke survivors may have underlying cancer, according to an observational study to be presented at the ESMO 2017 Congress in Madrid.

"Post-mortem studies have suggested that cancer can develop after a stroke, but the magnitude of this association has not been described," said lead author Dr Jacobo Rogado, medical oncology fellow, Hospital de La Princesa, Madrid, Spain. "We conducted a study that would allow us to establish whether this association actually exists and which factors may predict risk."

The researchers reviewed the medical records of all 914 patients admitted from the emergency room to the stroke unit of Hospital de La Princesa between January 2012 and December 2014. A total of 381 patients met the inclusion criteria and were followed for 18 months from the diagnosis of stroke. Demographic and clinical data were collected and compared between those who did, and did not, develop cancer. Variables that were significantly associated with cancer in univariate analysis were then subjected to multivariate analysis.

During the 18-month follow-up, 29 (7.6%) of stroke survivors were diagnosed with cancer, most frequently in the colon, lung and prostate. This was higher than the expected incidence of 17 patients (4.5%), based on statistics for the general population.

The average time from stroke onset to cancer diagnosis was six months. Nearly 45% of cancer diagnoses occurred within the first six months after a stroke diagnosis. Almost two-thirds (62%) of cancer patients presented with metastatic or locally advanced disease.

Multivariate analysis revealed that older age (>76 years), previous diagnosis of cancer, high levels of fibrinogen (>450 mg/dl) and low levels of hemoglobin (<13 g/dl), were associated with cancer.

Rogado said: "We found that the incidence of cancer in stroke survivors was almost twice that of the general population. When cancer was diagnosed it was usually at an advanced stage, and the diagnosis was made within six months after a stroke. This indicates that the cancer was already present when the stroke occurred but there were no symptoms."

Psychiatric disorders during pregnancy, including panic disorder and generalized anxiety disorder (GAD), with or without major depressive episode (MDE), are not associated with maternal or neonatal complications, new research suggests.

However, investigators did find an association between treatment for these conditions and adverse outcomes.

The cohort study, which assessed more than 2600 women, showed that pregnant women who used of benzodiazepines were at increased risk for cesarean delivery, as well as a low birth weight and ventilatory support for the newborn, compared with pregnant women who did not use the drugs.

Use of a serotonin reuptake inhibitor (SRI) was associated with maternal hypertension in pregnancy and minor respiratory interventions for the newborn.


Use of both types of drugs was also associated with an increased risk for preterm birth, shortening gestation by 3.6 and 1.8 days, respectively. But, "this is actually not a lot of time," lead author Kimberly Ann Yonkers, MD, professor of psychiatry at Yale School of Medicine, and director of the Center for Wellbeing of Women and Mothers, New Haven, Connecticut, told Medscape Medical News.

"There's often this sense that treatment for psychiatric disorders is somehow optional, but it isn't. These are serious conditions, and without treatment, many women would find it impossible to carry a pregnancy to term," said Dr Yonkers.

"So, just like those with diabetes or epilepsy, these women have a right to treatment. We just have to do our due diligence and understand what some of the risks and benefits are."

She added that the main take-away for the study is optimistic: "It's that women are not harming their babies if they have one of these psychiatric conditions."



Myriad Genetics, Inc. (NASDAQ:MYGN), a leader in molecular diagnostics and personalized medicine, is working to educate the public about hereditary cancer risk assessment and testing during Prostate Cancer Awareness Month this September. With 2.9 million men living with prostate cancer, it is now the second leading form of cancer in the United States, killing one man every 19 minutes. Up to 15 percent of prostate cancers are due to an inherited mutation. Myriad’s myRisk® Hereditary Cancer test is an effective tool to assess genetic mutations in men diagnosed with prostate cancer.

“We are proud to be leaders in the field of prostate cancer and myRisk is an excellent complement to our existing prostate cancer prognostic test, Prolaris, to further enhance physicians’ ability to individualize care for patients with prostate cancer,” said Johnathan Lancaster, M.D., Ph.D., chief medical officer, Myriad Genetics. “We are pleased to bring myRisk’s quality and accuracy in prostate cancer genetics to physicians who are working tirelessly to help patients and their children protect their health in the future.”

Men with prostate cancer who have hereditary gene mutations experience poorer outcomes associated with higher likelihood of metastasis/disease spread. Furthermore, mutations in cancercausing genes put men at risk for secondary cancers like pancreatic, colon, melanoma, kidney, brain and others. Because of the increased risks, the National Comprehensive Cancer Network (NCCN) instituted guidelines encouraging men with prostate cancer, who have a family history of cancer and a Gleason score of seven or higher, to undergo genetic testing. A Gleason score is a tool that helps physicians classify the staging and grades of prostate cancer.

Young muscle stem cells in patients with Duchenne muscular dystrophy have shortened telomeres, causing these cells to be less able to build new muscle, according to new research.

A full discussion of the results of this study, “Single Stem Cell Imaging and Analysis Reveals Telomere Length Differences in Diseased Human and Mouse Skeletal Muscles,” is available is the open-access article in Stem Cell Reports.

Shortened telomeres have long been established as a characteristic of aging. Telomeres are small chains of DNA at the ends of chromosomes that protect the chromosome during cell division. As cells undergo division over time, telomeres shorten.  This shortening eventually triggers cell death or a permanent non-dividing cell state called senescence.

In patients with Duchenne muscular dystrophy (DMD), muscles typically degenerate due to different gene mutations. Muscle stem cells should be able to repair this damage. But the constant stress and muscle degeneration seen in the disease puts undue pressure on muscle stem cells to rebuild muscle and undergo more cell division than normal, shortening the telomeres at an unusual rate and age.

“We found that in boys with DMD, the telomeres are so short that the muscle stem cells are probably exhausted,” Foteini Mourkioti, the study’s senior author and an assistant professor of orthopedic surgery and cell and developmental biology at the Perelman School of Medicine at the University of Pennsylvania, said in a press release.

“Due to the DMD, their muscle stem cells are constantly repairing themselves, which means the telomeres are getting shorter at an accelerated rate, much earlier in life,” he said.

To prove that telomeres are shorter in DMD patients, the research team first had to create tools necessary to visualize the microscopic chromosome ends. They based their technique on an existing method called fluorescence in situ hybridization (FISH), using a fluorescent probe that binds specifically to telomeres. Longer telomeres attach more probes and are visually more bright. Using a microscope and imaging equipment, the team could quantify the length of telomeres.


A team of researchers at the NIHR Leicester Biomedical Research Centre, UK - a partnership between Leicester's Hospitals, the University of Leicester and Loughborough University - has concluded that middle-aged people who report that they are slow walkers could be at higher risk of heart disease compared to the general population.

The data analyzed was collected between 2006 and 2010 by the UK Biobank from nearly half a million middle-aged people across the UK. 420,727 people were included in the research because they were free from cancer and heart disease at the time of collecting their information.

The study is published in the European Heart Journal.

In the following 6.3 years after the data was collected there were 8598 deaths with the sample population being studied: 1654 from cardiovascular disease and 4850 from cancer.

Professor Tom Yates, a Reader in Physical Activity, Sedentary Behavior and Health at the University of Leicester and Principal Investigator for the study, said: "Our study was interested in the links between whether someone said they walked at a slow, steady or brisk pace and whether that could predict their risk of dying from heart disease or cancer in the future.

"Slow walkers were around twice as likely to have a heart-related death compared to brisk walkers. This finding was seen in both men and women and was not explained by related risk factors such as smoking, body mass index, diet or how much television the participants in the sample watched. This suggests habitual walking pace is an independent predictor of heart-related death.


MILAN — Children presenting with asthma are 1.6 times more likely than children without asthma to be prescribed antibiotics by primary care practitioners, new research shows, despite the fact that antibiotics should not be used to treat asthma.

"We compared the UK primary care database with a Dutch database because we know that the Netherlands has one of the lowest antibiotic prescription rates in the world," said investigator Esmé Baan, MD, from the Department of Medical Informatics at Erasmus University in Rotterdam, the Netherlands.

Although antibiotic prescriptions overall were higher in the United Kingdom than in the Netherlands, the rate of prescriptions written by primary care practitioners for children with asthma were similar in the two places, she told Medscape Medical News.

For their study, Dr Baan and her colleagues identified 1,591,036 children 5 years or older in the British database, and 330,726 in the Dutch database.


An asthma disease code plus the use of at least two prescriptions for asthma drugs in a 1-year period were considered to indicate a diagnosis of asthma. "This would include salbutamol and inhaled corticosteroids," Dr Baan said here at the European Respiratory Society International Congress 2017.

The team cross-referenced antibiotic codes with codes for a diagnosis of asthma to determine how often antibiotics were prescribed.

After adjustment for age, sex, and calendar year, antibiotic use was significantly higher in children with asthma than in those without in the United Kingdom (374 vs 250 per 1000 patient-years) and in the Netherlands (197 vs 126 per 1000 patient-years). The rate of prescription was 60% higher in children with asthma than in those without asthma in the United Kingdom, and 65% higher in the Netherlands.

Children with asthma have a lot of respiratory symptoms, and when they are 

Scientists have discovered a network of genes and genetic regulatory elements in the lining of the intestines that has stayed remarkably the same from fishes to humans. Many of these genes are linked to human illnesses, such as inflammatory bowel diseases, diabetes, and obesity.

The findings, which appear in the journal PLOS Biology, establish the fish as an experimental platform for studying how this ancient genetic information -- distilled over 420 million years of evolution -- controls the development and dysfunction of the intestine.

"Our research has uncovered aspects of intestinal biology that have been well-conserved during vertebrate evolution, suggesting they are of central importance to intestinal health," said John F. Rawls, Ph.D., senior author of the study and associate professor of molecular genetics and microbiology at Duke University School of Medicine. "By doing so, we have built a foundation for mechanistic studies of intestinal biology in non-human model systems like fish and mice that would be impossible to perform in humans alone."

The intestine serves a variety of important functions that are common to all vertebrates. It takes up nutrients, stimulates the immune system, processes toxins and drugs, and provides a critical barrier to microorganisms. Defects in the intestinal epithelial cells lining the intestine have been implicated in a growing number of ailments, including inflammatory bowel diseases, colorectal cancer, food allergy, diabetes, obesity, malnutrition and infectious diarrheas.

For decades, scientists have relied on animal models to gather information on intestinal epithelial cells that could help combat human diseases. But it wasn't clear just how alike these cells were across multiple species.

In this study, Rawls and his team used a comparative biology approach to tackle that question. Research associate Colin R. Lickwar, Ph.D., and colleagues generated genome-wide data from intestinal epithelial cells in four evolutionarily distant species: zebrafish, stickleback fish, mouse and human. Lickwar then created maps for each of the species depicting not only the activity level of all of the genes, but also the location of specific genetic sequences or regulatory elements that flipped those genes on and off.

The risk for developing obesity is influenced by our lifestyle as well as our genes. In a new study from Uppsala University, researchers show that our genetic risk for obesity is not static, but is influenced by our lifestyle. Results from the study have been published in the scientific journal PLOS Genetics.

In the current study, researchers have investigated if genetic effects are influenced by different lifestyle factors such as diet, smoking, socio-economic status, alcohol consumption and physical activity. The study builds on genetic and self-reported lifestyle information from 360,000 middle-aged people in the UK.

"The results of our study clearly show that the environment and the lifestyle interact with the genes," says Mathias Rask-Andersen, researcher at the Department of Immunology, Genetics and Pathology, who led the study.

For example, the effect of genetic factors was lower in the most physically active participants. Socio-economic status also influenced the genetic effects. The genetic risk for obesity was more pronounced in participants with lower socio-economic status than in participants with higher socio-economic status. One of the most surprising results of the study was that alcohol consumption also influenced the genetic effects. The researchers could clearly see that the genetic effects were lower among those with more frequent alcohol intake. The genetic effect was nearly half as strong in participants who consume alcohol every day compared with never-drinkers.

The results suggest that we can influence our genetic risk by changing our lifestyle. Someone with a strong predisposition for obesity, for instance a person with many overweight relatives, could reduce the effect of their genes by making lifestyle changes. The hope is that the results of this study will lead to new angles of approach to understanding the mechanisms that regulate body weight and to better methods of treating and preventing obesity and overweight. However, it is important to point out that the current study is a population-based study. In such a study, the researchers are unable to assess cause and effect.

BARCELONA, SPAIN — Eating a small bar of dark chocolate containing olive oil every day may improve endothelial function, a small, randomized crossover study suggests[1].

Results showed that when 26 middle-aged adults with at least three cardiovascular risk factors ate a 40-g bar of dark chocolate enriched with extra virgin olive oil every day for a month, their levels of endothelial progenitor cells—important for vascular repair and reduced in people with cardiovascular risk factors—improved.  

"These results, in our opinion, can motivate people to be more indulgent in a small piece of dark chocolate daily, which has at least 70% cocoa, and which may help longevity," Dr Rossella Di Stefano (University of Pisa, Italy) told a press conference here at the European Society of Cardiology (ESC) 2017 Congress.

The same beneficial effects were not seen when the study participants ate dark chocolate that had been enriched with red apple, although the authors speculate this may have been because the concentration of added apple was insufficient.


A paper published in the New England Journal of Medicine[2] has shown that endothelial progenitor cells "can repair endothelium and are lowered by cardiovascular risk factors," Di Stefano told | Medscape Cardiology. "We can improve this with statins, for example, but we can also improve this with chocolate."

The study participants found that the olive-oil–enriched chocolate tasted good, and there are some versions that are commercially available.

"The idea is very interesting," but this is a preliminary study, session co–chair Dr Joep Perk (Linnaeus University, Kalmar, Sweden), who was not involved with this research, told | Medscape Cardiology.

"This is the first step," he cautioned. "We'll need a much longer observation period and much larger groups of patients" before widely recommending this. "But it is a door opener, and I hope people will go through that door."