25th Jun 2014, 12:42 PM #1211
Re: Health Bulletin
Now, photos can help spot rare disorders
Computer analysis of old family photographs can now help doctors diagnose rare genetic disorders in children.
Scientists from the Oxford University have developed a computer programme that recognizes facial features in photographs and looks for similarities with facial structures for various conditions such as Down's syndrome, Angelman syndrome or Progeria and returns possible matches ranked by likelihood.
The researchers are being funded by the Medical Research Council and have developed an algorithm which learns what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.
The programme accounts for variations in lighting, image quality , background, pose, facial expression and identity. It builds a description of the face structure by identifying corners of eyes, nose, mouth and other features and then compares this with photographs in its bank.
"A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on," said lead researcher Christoffer Nellaker of the MRC Functional Genomics Unit at Oxford.
Genetic disorders are each individually rare but collectively these conditions are thought to affect one person in 17. Of these a third may have symptoms that greatly reduce quality of life.
Identifying a suspected developmental disorder tends to require clinical geneticists to come to a conclusion based on facial features, follow-up tests and their own expertise.
It is thought that 30-40 % of rare genetic disorders involve some form of change in the face and skull, possibly because so many genes are involved in development of the face and cranium as a baby grows in the womb.
25th Jun 2014, 01:15 PM #1212
Re: Health Bulletin
Drug from Indian spices to fight hypertension
The search for an affordable drug to treat hypertension without side effects has led scientists to the Indian kitchen. Some spices and condiments commonly used in Indian soups, curries and rasam, when taken in a specific proportion with white lotus petals, can bring down blood pressure, say scientists after an animal study done in Chennai.
Researchers found that Siddha drug 'venthamarai chooranam,' a mixture of cardamom, ginger, cumin seeds, long pepper (thippili), dill (sada kuppi), licorice (adimadhuram) and white lotus petal could bring down blood pressure in rats during laboratory experiments. Excited by the finding published recently in science journal Experimental Biology and Medicine, doctors at the Sri Ramachandra University are now gearing up for a larger animal study and clinical trials of the Siddha drug.
Genetically predisposed to hypertension, one in four Indians in cities suffer from the disorder. The incidence is about 15% in rural population. Cardiologist Dr S Thanikachalam, who led the research, said: "Every time I see a patient's case sheet, I underline four causes - smoking, diabetes, hypertension and obesity." People with hypertension are mostly treated with allopathic drugs, but dropouts are high because many find the drugs expensive and some suffer from side effects. "So, we decided to look at the ancient Indian medical literature for answers," he said.
Scientists first tried the Siddha powder on rats and found it effective. "When we gave this chooranam for 63 days and the blood pressure dropped," said C Saravana Babu, a toxicologist who was a part of the research. Pathological reports showed the drug had made healthy changes in the genes, tissues and blood vessels, he said. The herbal medicine will be put to further animal and human test, before it can be given to humans, Dr Thanikachalam said.
During the study the doctors divided the rats into three groups - for the first the abdomen was cut and closed, for the second and third the scientists partially blocked blood supply to one of the kidneys. Two months after the surgery, most rats became hypertensive and they developed problems in the blood vessels, kidneys and heart. Scientists used special equipment that could measure blood pressure in rats' tails.
While the second group was fed with a placebo, the third was orally fed venthamarai chooranam at a dosage of 400g per kilogram bodyweight for 63 days. "We started noticing changes from the third day. At the end of two months, the blood pressure was almost normal," said Saravana Babu. But what surprised scientists was not just the change in blood pressure, but other actions as normalization of the carotid arteries and kidney.
25th Jun 2014, 01:15 PM #1213
Re: Health Bulletin
26th Jun 2014, 12:55 PM #1214
Re: Health Bulletin
Gene in brain linked to kidney cancer
Scientists have found that a gene that controls brain growth and development is heavily involved in promoting the most common form of kidney cancer, a finding that could lead to new strategy to treat the disease.
The study by researchers from Mayo Clinic in Florida shows that the gene NPTX2, plays an essential role in clear cell renal cell carcinoma, which is resistant to common chemotherapy and has a five-year overall survival rate of less than 10 per cent in patients with metastatic disease.
The study not only shows that NPTX2 is active in kidney cancer, but is the first to reveal that the gene is over-expressed in any human cancer. The researchers are now looking whether NPTX2 may act in other cancers.
"We found that a gene known to play a role in the healthy brain is also the No 1 gene associated with this most lethal of all urological cancers," said the study's senior investigator and molecular biologist John A Copland.
"We also have very promising ideas about how to attack the NPTX2 protein — which may provide a much-needed new strategy to treat this kidney cancer," said Copland.
Because the NPTX2 gene is not expressed in normal kidney tissue, a drug designed to target its protein would provide a highly focused treatment, Copland said. The team is working on several different approaches to an NPTX2 inhibitor.
Lead author Christina von Roemeling, a graduate student at Mayo Clinic, used genomic profiling of nearly 100 kidney cancer patient samples to identify genes that were either over-expressed or under-expressed as compared to patient matched normal kidney tissue samples.
Von Roemeling and the research team then individually silenced each of the top 200 altered genes to see the effect on tumour growth.
They found 31 genes were important to growth of the cancer or its ability to survive, and from this group they determined NPTX2 was a key gene to cancer viability.
The study was published in the journal Cancer Research.
26th Jun 2014, 01:01 PM #1215
Re: Health Bulletin
Dynamics of cancer chain in cell membrane unravelled
In new findings, scientists have discovered how clusters of a protein are linked to cancer damage cell membranes.
The findings on these protein clusters, or aggregates, could help guide design of new anti-cancer drugs.
"The aggregate is a large substructure that imposes some kind of curvature on the membrane — that is really the major observation," said lead researcher Alemayehu Gorfe from the University of Texas Health Science Centre at Houston, US.
The researchers created coarse-grained molecular dynamics simulations of the Ras protein.
More than one-third of all human cancers are associated with somatic, or post-conception, mutations in Ras proteins.
"Mutations on one of the Ras proteins, Kristen or K-Ras, are responsible for 90 per cent or more of pancreatic cancer cases," Gorfe said.
"It tells you that it is a very, very important anti-cancer drug target," he added.
Scientists today have little understanding of how or what happens when Ras proteins form small, nano-sized clusters on the membrane.
"It is these nanoclusters, these transient substructures on the cell membrane that assemble and disassemble quickly, that are involved in signal transmission," Gorfe said.
Gorfe's computer simulations showed Ras proteins cluster together, or form aggregates, on the cell membrane. And this led him to question what they might do there.
Ras acts like a switch that must be turned on for cells to reproduce.
The problem is that when Ras genes get mutated, that switch just would not turn off, and that leads to out of control cell growth.
The study was published in the Journal of Physical Chemistry Letters.
26th Jun 2014, 01:08 PM #1216
Re: Health Bulletin
Hi-tech test may cut down need for 50% heart surgeries
Patients with blocked arteries are often advised surgery or angioplasty, but many of them are avoidable. Now, a technology called fractional flow reserve (FFR) promises to ascertain if a surgery or stenting is necessary. FFR, which is costlier than an angiogram and hence a supplement, works by analyzing the blood flow on either side of the block.
Intervention cardiologist Dr G Sengottuvelu of Apollo Hospitals conducted a study to assess the clinical use of FFR and found that it cut the need for stents by 42% and bypass surgery by 50%. The technique costs one-fourth of an open heart surgery, he said. Using FFR technology, doctors introduce a guide wire into the artery of the patient and reach the block in the heart. The wire which has a device attached to it measures the pressure levels on either side of the block and feeds the data to a monitor. "We have to calculate the ratio, and if the result ranges between 0.8 and 1, the block doesn't need any invasive procedure. But if the result is below 0.8, the block is significant and requires a surgery or stent," said Dr Sengottuvelu.
The FIND (Fractional Flow Reserve among Indian patients) study screened 59 patients with 81 blocked blood vessels. The same patients underwent angiogram. Going by only angiogram, 45 required stents. When FFR was done in addition to angiogram, only 26 needed stents. Similarly, the angiogram results showed six needed surgery, while additional FFR results suggested surgery only for three. "This avoided procedures worth Rs8.3 lakh," said Dr Sengottuvelu. FFR, which costs around Rs30,000 is a supplementary procedure to angiogram which costs Rs15,000. A bypass surgery costs Rs1.5 lakh upwards.
The doctor said that FFR results were physiological and more accurate and benefited Indian patients mainly as they are highly susceptible to small and multi-vessel diseases. "Angiograms can misclassify most of the blocks as significant but if we supplement it with FFR, the numbers reduce remarkably and save a lot of pain and money for patients," he said. The study was recently published in the American Journal 'Catheterization and Cardiovascular Interventions."
27th Jun 2014, 01:35 PM #1217
Re: Health Bulletin
Antibiotic resistance voted as deadliest threat
Antibiotic resistance has been voted as the deadliest threat of our times.
The theme has won the £10 million prize - the Longitude Prize 2014 set up to tackle a major challenge of our time.
Six themes were initially identified by organizers which were then put to a public vote.
Britain announced the six greatest challenges facing humanity today — how can we fly without damaging the environment, how can we ensure everyone has nutritious, sustainable food, how can we prevent the rise of resistance to antibiotics, how can we restore movement to those with paralysis, how can we ensure everyone can have access to safe and clean water and how can we help people with dementia to live independently for longer.
Antibiotic resistance emerged as the winning theme.
"The challenge for Longitude Prize 2014 will be set to create a cheap, accurate, rapid, and easy-to-use test for bacterial infections that will allow doctors and nurses all over the world to better target their treatments, administering the right antibiotics at the right time. Point-of-care test kits will allow more targeted use of antibiotics, and an overall reduction in misdiagnosis and prescription. This will ensure that the antibiotics we have now will be effective for longer and we can continue to control infections during routine and major procedures," the prize said.
Scientists will now use the £10 million prize fund to make antibiotics lethal again.
The prize marks the 300th anniversary of the Longitude Act where in 1714 the British government set out the scientific challenge of how to pinpoint a ship's location at sea. This was solved by watchmaker John Harrison who designed the chronometer, the first seafaring clock that allowed accurate navigation. The solution not only led to safer sea travel but opened up global trade.
The prize was run and developed by Nesta with the Technology Strategy Board.
The World Health Organisation has already warned that the world is staring at a post-antibiotic era when common infections will no longer have a cure.
Experts have blamed the "overuse and the misuse" of antibiotics for the situation.
On average antibiotics add 20 years to each person's life. The development of antibiotics has been vital to our survival, yet the rise of antimicrobial resistance is threatening to make them ineffective in the future.
The World Health Organization estimates that antibiotics treatments add an average of 20 years to all of our lives. But in the 80 years since the discovery of penicillin, our overuse of antibiotics has put pressure on bacteria to evolve resistance, leading to the emergence of untreatable superbugs that threaten the basis of modern medicine.
Clinicians often prescribe broad spectrum antibiotics to sick patients because doctors have to act quickly on imperfect information. These methods put selective pressure on microbes to evolve resistance to antibiotics. Data shows that there has been a six-fold increase in the number of antibiotics being popped by Indians. This includes the retail sale of Carbapenems — powerful class IV antibiotics, typically used as a "last resort" to treat serious infections caused by multi-drug resistant, gram-negative pathogens.
WHO director general Dr Margaret Chan said when antibiotics were first introduced in the 1940s, they were hailed as wonder drugs. "Widespread infections that killed millions could be cured. Major diseases, like syphilis, gonorrhoea, leprosy and tuberculosis lost much of their sting. However today, the message is clear — the world is on the brink of losing these miracle cures," Dr Chan said.
27th Jun 2014, 01:39 PM #1218
Re: Health Bulletin
Organ created from stem cells; they contract at 30 beats/min
Miniature human hearts that beat of their own accord have been grown in the lab using stem cells.
The tiny hearts are just 1 mm in diametre and contract at around 30 beats per minute, according to researchers at Abertay University in the UK. They have been developed specifically to find a cure for heart hypertrophy — a form of heart disease that can lead to sudden death.
Although healthy to begin with, the scientists are using chemicals to simulate the physiological conditions that will make the hearts hypertrophic — enlarged, due to abnormal growth of the cells that make up the heart (cardiomyocytes). Once diseased, the hearts are then treated with newly developed medications to see if they can prevent the damage from occurring. "Although human hearts have been grown in labs before, this is the first time it has ever been possible to induce disease in them," said Professor Nikolai Zhelev, who is leading the research.
"Heart hypertrophy can be hereditary, can be caused by diseases such as diabetes, or can be caused by doing too much strenuous exercise. The disease causes the heart muscle to thicken and stiffen, and makes it harder for the heart to pump blood around the body. In some people, a life-threatening abnormal heart rhythm will develop, and this is the most common cause of sudden death in young people. Although there are treatments, these only help to control the symptoms, and there is no known cure at the moment," Zhelev said.
Zhelev believes the miniature hearts could help change that.
Using biosensors, Zhelev has been able to label specific molecules within the hearts to see where they are going —which pathway they follow. By establishing which molecules cause the hearts to become hypertrophic, he has been able to target drugs at these molecules and prevent them from going down the path they would usually take, and prevent them from becoming hypertrophic.
"We've tested a number of different compounds on these hearts — some of them entirely new ones that haven't been tested in humans yet, which is why we're testing them on these hearts we've grown in the lab," Zhelev said.
28th Jun 2014, 02:45 PM #1219
Re: Health Bulletin
Soon, a simple blood test to predict breast cancer risk
A simple blood test will soon be able to tell the likelihood of a woman developing breast cancer, even when she isn't in the high risk category. Researchers from UCL (University College London) have identified an epigenetic signature in the blood of women predisposed for breast cancer owing to an inherited genetic mutation of the BRCA1 gene.
Epigenetic alterations are thought to be key molecular switches that are involved in the development of cancer.
Strikingly, the same signature was discovered in the blood of women without a BRCA1 mutation but who went on to develop breast cancer, making it a potential early marker of women's cancer in the general population.
BRCA1 mutation is inherited from a parent and is the cause of at least 10% of breast cancers.
29th Jun 2014, 04:29 PM #1220
Re: Health Bulletin
A method to detect oral cancers
Researchers, led by Indian origin scientist Ravindra Uppaluri, from Washington University School of Medicine in St. Louis have found a way to predict the aggressiveness of oral tumours in people.
The discovery would soon lead to an easily available diagnostic test that could guide treatment, according to researchers.
Working on mice, the investigators found a consistent pattern of gene expression associated with tumour spreading in mice.
Analysing genetic data from human oral cancer samples, they also found this gene signature in people with aggressive metastatic tumours.
"We didn't automatically assume this mouse model would be relevant to human oral cancer," said Uppaluri.
"But it turns out to be highly reflective of the disease in people," he added.
Rather than use genetic methods to induce tumours in the mice, the research team repeatedly applied a known carcinogen, in much the same way humans develop cancer of the mouth.
"Patients often have a history of tobacco and alcohol use, which drive the development of these tumours," Uppaluri added.
"We felt that exposing the mice to a carcinogen would be more likely to produce similar kinds of tumours."
Uppaluri's team then set out to find out whether the mouse and human tumours also were genetically similar.
"When we sequenced these tumours, we found that a lot of the genetic mutations present in the mouse tumours also were found in human head and neck cancers," he said.
Further analysis identified a common signature in the expression of about 120 genes that was associated with the more aggressive tumours, whether in mice or people.
The researchers confirmed this signature using data collected from 324 human patients.
Subsequently, using oral cancer samples from patients treated at Washington University, they developed a proof of concept test from their signature that identified the aggressive tumours with about 93 per cent accuracy.
"These kinds of tests are available for other types of cancer, most notably breast cancer," he said.
"They are transformative genetic tests that can alter the clinical management of patients, tailoring therapies especially for them. It's our goal to develop something like that for head and neck cancer," he said.
The study was published in the journal Clinical Cancer Research.