Knowledge Update

​New York, March 22 (IANS) Researchers have found that flaw in a gene linked to birth defects in mouse models may cause cleft lip and palate in humans too.

In the study, three siblings born with cleft lip and palate were found to have the same gene mutation associated with the birth defect.

The gene intraflagellar transport 88 (IFT88) ensures transportation antennae (cilia) on embryonic cells travel to the right place, enabling the development of cartilage, bone and smooth muscle in the face and skull.

"Finding this birth defect in every single child in a family is like catching lightning in a bottle because it allowed us to pinpoint the gene mutation that is probably responsible," said senior author of the study Yang Chai from University of Southern California in the US.

"Our finding that the gene IFT88 is involved in cleft lip and palate is unlikely to be mere coincidence," Chai said.

However, because this study - published in the journal Human Molecular Genetics -- involved only three children, Chai said more investigation is needed to find a causal relationship.

Operation Smile, an international nonprofit that provides free facial surgeries in developing countries, found and provided support to the three siblings -- two boys and a girl -- in Mexico who were born with cleft lip and palate. 

Their mother did not have the congenital disorder, but their father did.

Researchers went through 32,061 unique gene variations to identify IFT88.

"If someone carries this mutation, they may have a higher chance of giving birth to children with cleft lip and palate," said Chai.

"In our study, the animal model and the human mutation match," Chai said. 

"In the animal model, there is no doubt. We have shown that 100 per cent of the mice who have a single mutation in IFT88 have cleft lip and palate," Chai added.

New York, March 22 (IANS) Insulin resistance, caused in part by obesity and physical inactivity, is also linked to a more rapid decline in cognitive performance, researchers say.

Insulin resistance is a condition in which cells fail to respond normally to the hormone insulin. The resistance prevents muscle, fat, and liver cells from easily absorbing glucose. As a result, the body requires higher levels of insulin to usher glucose into its cells.

The study, appearing in the Journal of Alzheimer's Disease, showed that both diabetic and non-diabetic subjects with insulin resistance experienced accelerated cognitive decline in cognitive functions such as memory, executive function, visual spatial processing, and attention. 

"The findings may help to identify a group of individuals at increased risk of cognitive decline and dementia in older age," said David Tanne, Professor at Tel Aviv University in Israel. 

Without sufficient insulin, excess glucose builds up in the bloodstream, leading to prediabetes, diabetes, and other serious health disorders.

However, "insulin resistance can be prevented and treated by lifestyle changes and certain insulin-sensitizing drugs. Exercising, maintaining a balanced and healthy diet, and watching your weight will help you prevent insulin resistance and, as a result, protect your brain as you get older," Tanne added.

For the study, the team followed a group of nearly 500 patients with existing cardiovascular disease for more than two decades and assessed their insulin resistance with the homeostasis model assessment (HOMA) -- calculated using fasting blood glucose and fasting insulin levels --, and cognitive functions. 

​Washington, March 22 (IANS) In a key advance for safely navigating future human exploration of the solar system, NASA said it is set to send its next-generation atomic clock to space in late 2017.

This clock will be smaller, lighter and magnitudes more precise than any atomic clock flown in space before, NASA said.

Engineers at NASA's Jet Propulsion Laboratory in Pasadena, California have completed integration of the instrument, the Deep Space Atomic Clock, with the spacecraft that will take it into orbit later in 2017, the US space agency said in a statement on Tuesday.

Timekeeping plays a critical role in spacecraft navigation and will be especially important for future deep space missions. 

Most spacecraft are tracked using "two-way" methods -- the ground-based antenna 'pings' the spacecraft and waits for the signal to return. 

By measuring how long the signal takes to travel, the distance to the spacecraft can be calculated. 

A navigation team then processes this information to determine the spacecraft's flight path and also determine if any course corrections are required. 

The next-generation atomic clock developed by NASA enables "one-way" tracking, where the spacecraft does not need to send the signal back to Earth. 

The tracking measurements could be taken onboard and processed with a spacecraft-based navigation system to determine the path and whether any manoeuvre are needed to stay on course. 

This will be a key advance for safely navigating future human exploration of the solar system by providing astronauts with their position and velocity when they need it, according to NASA.

It will lighten the load on the antennas in NASA's Deep Space Network, allowing more spacecraft to be tracked with a single antenna.

The Deep Space Atomic Clock would also improve the precision and quantity of the radio data used by scientists for determining a planet's gravity field and probing its atmosphere, NASA said.

United Nations, March 22 (IANS) Nearly 600 million children, one in four worldwide, will live in areas with extremely limited water resources by 2040, according to a UN report.

The report was released late Tuesday by the UN International Children's Emergency Fund (Unicef), Efe news reported on Wednesday.

Unicef warned of the threat to children's lives due to the lack of safe water and of how climate change is exacerbating the problem.

"Water is elemental; without it, nothing can grow. But around the world, millions of children lack access to safe water -- endangering their lives, undermining their health, and jeopardising their future," Unicef Executive Director Anthony Lake said.

"This crisis will only grow unless we take collective action now," he insisted.

The report warns that population growth as well as increased consumption and demand are putting more and more stress on water availability, while right now such stress is already "extremely high" in 36 countries.

The situation occurs when demand for water far exceeds the renewable supply available, the report said.

It also highlighted various factors affecting the quality and availability of water such as warmer temperatures, rising sea levels, melting ice and increasing droughts.

To date, 663 million people are lacking adequate access to water sources and more than 800 children under the age of five die every day from diarrhoea linked to contaminated water and inadequate sanitation and hygiene.

According to Unicef, the lack of an adequate supply exposes children to deadly diseases forcing children in many places to spend hours every day to collect water, preventing them from going to school.

The report furthermore includes recommendations for different sectors and urges governments to plan for possible changes in water availability and demand over the coming years.

According to Unicef, the priority must be to safeguard access to water for the most vulnerable children

​Washington, March 21 (IANS) The last volcanic activity on the Red Planet ceased about 50 million years ago -- around the time when our planet's plant and animal species, including dinosaurs, went extinct, reveals new research.

The giant Martian shield volcano Arsia Mons produced one new lava flow at its summit every one to 3 million years during the final peak of activity. 

The last volcanic activity there ceased about 50 million years ago around the time of the Earth's Cretaceous-Paleogene extinction.

"We estimate that the peak activity for the volcanic field at the summit of Arsia Mons probably occurred approximately 150 million years ago -- the late Jurassic period on Earth -- and then died out around the same time as the Earth's dinosaurs," said Jacob Richardson, a post-doctoral researcher at NASA's Goddard Space Flight Center in Greenbelt, Maryland. 

"It's possible, though, that the last volcanic vent or two might have been active in the past 50 million years, which is very recent in geological terms," Richardson added.

Located just south of Mars' equator, Arsia Mons is the southernmost member of a trio of broad, gently sloping shield volcanoes collectively known as Tharsis Montes. 

Richardson presented the findings, published in the journal Earth and Planetary Science Letters, at the Lunar and Planetary Science Conference in The Woodlands, Texas, on Monday. 

The high-resolution imaging was provided by NASA's Mars Reconnaissance Orbiter.

A better understanding of when volcanic activity on Mars took place is important because it helps researchers understand the Red Planet's history and interior structure.

​New York, March 21 (IANS) Chimpanzees living in the wild -- with favourable ecological factors, abundant supply of high-energy and nutritious foods and low predation levels -- can have long life spans, a study has found.

"Our findings show how ecological factors, including variation in food supplies and predation levels, drive variation in life expectancy among wild chimpanzee populations," said lead author of the study Brian Wood, Assistant Professor at Yale University.

In the study, published in the Journal of Human Evolution, the team analysed a sample of 306 chimpanzees of a community, called Ngogo, at Kibale National Park in Uganda.

They found that these chimpanzees had an average life expectancy of about 33 years, nearly twice as high as that of other chimpanzee communities and within the 27 to 37-year range of life expectancy at birth of human hunter-gatherers.

According to the study, favourable ecological conditions largely account for the Ngogo community's high life expectancy -- the highest on record for any group of wild chimpanzees.

The forest in Ngogo provides a relatively consistent and abundant supply of high-energy and nutritious foods, including easily digestible figs.

This rich food supply helps buffer the Ngogo chimpanzees against periods of hunger, and helps fuel their ability to stave off diseases that would otherwise lead to higher mortality, the research said.

Further, the Ngogo chimpanzees also benefit from a low risk of predation, no major disease epidemics, either introduced by humans or due to other causes, like those that have affected wild chimpanzees at several other research sites.

The study is important for understanding the evolution of chimpanzees and hominin life histories as they help us to imagine the conditions that could have changed mortality rates among our early hominin populations, Wood said.

"It has long been proposed that there are extreme differences in the life expectancies of human hunter-gatherers and chimpanzees," said David Watts, Professor at Yale University.

"In fact, the Ngogo community's pattern of survivorship more closely resembles that of human hunter-gatherers than those documented for other chimpanzee communities," he said.

​London, March 21 (IANS) The record-breaking heat that made 2016 the hottest year recorded so far has continued into 2017, pushing the world into "truly uncharted territory", according to the World Meteorological Organisation (WMO).

The WMO's assessment of the climate in 2016, published on Tuesday, reports unprecedented heat across the globe, exceptionally low ice at both poles and surging rise in sea levels, the Guardian reported.

Global warming is largely being driven by emissions from human activities, but a strong El Nino -- a natural climate cycle -- has added to the heat in 2016. 

The El Nino is now waning, but the extremes continue to be seen, with temperature records tumbling in the US in February and polar heatwaves pushing ice cover to new lows, the WMO report said.

"Even without a strong El Nino in 2017, we are seeing other remarkable changes across the planet that are challenging the limits of our understanding of the climate system. We are now in truly uncharted territory," said David Carlson, director of the WMO's world climate research programme.

Last year saw the hottest global average among thermometer measurements stretching back to 1880, reports the Guardian. 

But scientific research indicates the world was last this warm about 115,000 years ago and that the planet has not experienced such high levels of carbon dioxide in the atmosphere for 4 million years.

This year already saw temperature records continue to tumble, in the US where February was exceptionally warm, and in Australia, where prolonged and extreme heat struck many states. 

According to the report, global sea level rise surged between November 2014 and February 2016, with the El Nino event helping the oceans rise by by 15mm. 

That jump would have taken five years under the steady rise seen in recent decades, as ice caps melt and oceans get warmer and expand in volume. 

​New York, March 21 (IANS) A team of researchers has developed a cheap, portable camera that can photograph the retina without the need for pupil-dilating eye drops.

Made out of simple parts mostly available online, the camera's total cost is about $185.

"As residents seeing patients in the hospital, there are often times when we are not allowed to dilate patients -- neurosurgery patients for example," said Dr Bailey Shen, an ophthalmology resident at University of Illinois' Chicago College of Medicine.

"There are times when we find something abnormal in the back of the eye but it is not practical to wheel the patient all the way over to the outpatient eye clinic just for a photograph," Shen added.

The prototype camera can be carried in your pocket and can take pictures of the back of the eye without eye drops. The pictures can be shared with other doctors, or attached to the patient's medical record.

The camera is based on the Raspberry Pi 2 computer, a low-cost, single-board computer designed to teach children how to build and programme computers. 

A handful of other components -- a lens, a small display screen and several cables -- make up the rest of the camera.

Shen and his co-author Dr Shizuo Mukai, associate professor of ophthalmology at Harvard Medical School and a retina surgeon at Massachusetts Eye and Ear, describe their camera and provide a shopping list of parts, instructions for assembly and the code needed to programme the camera in the Journal of Ophthalmology.

"This is an open-source device that is cheap and easy to build," said Mukai. "We expect that others who build our camera will add their own improvements and innovations."

"The device is currently just a prototype, but it shows that it is possible to build a cheap camera capable of taking quality pictures of the retina without dilating eye drops, " Shen said. 

Mumbai, March 19 (IANS) In a development that could transform the management of cancer patients, a Bengaluru-based laboratory has claimed to have cracked the difficulties related to tracing malignant cells and avoid repeated biopsies.

Doctors often are forced to conduct repeated biopsy tests to detect certain types of cancers related to skin, lung and colon. 

But with the new method -- liquid biopsy test -- developed for the first time in India by MedGenome, a genomics-based research and diagnostics company, physicians can identify genetic alterations, interpret, assess and treat various forms of cancer, the company said.

The test has also been validated in a scientific study, in academic collaboration with Tata Memorial Centre Hospital (TMH), Mumbai, and its state-of-the-art R&D satellite Advanced Centre for Treatment, Research and Education in Cancer (ACTREC).

The test facilitates detection of mutation where there is difficulty of obtaining biopsy or in the event of a damaged biopsy material and non-availability of tissue biopsy.

The development assumes significance in view of the fact that by 2020 India may have an estimated 1.73 million new cases of cancer and over 880,000 cancer deaths. Around 70 per cent of all cancer patients approach the doctor only when the symptoms noticeably appear and the chances of cure are very low as the by then disease has advanced.

"Management of cancer will undergo a massive transformation in India with NGS (next generation sequencing)-based liquid biopsies. We are constantly striving to get the most advanced genetic testing technology/technique at affordable prices to the patients and Oncotrack is one such offering," said Sam Santhosh, MedGenome Chairman.

Dr. Kumar Prabhash, Medical Oncologist at TMH, opines: "As the care gets more personalised, doctors will be equipped to make correct diagnosis, prognosis and prediction of diseases. Cell-free tumour DNA (ctDNA) analysis will help in avoiding repeat biopsies of difficult-to-get tumours and also in monitoring the overall response to treatment on real time basis."

In medical terms, the liquid biopsy-based test is a non-invasive screening that analyses cell-free DNA that is isolated from the patients' blood. Using high-end sequencing technology, the screening process identifies specific gene mutations that are linked with melanoma, lung and colon cancers. 

This empowers cancer specialists, the oncologists, to look for actionable alterations in a patient's treatment and management, without having to do an invasive biopsy or where biopsy is not an option, Medgenome said.

"Liquid biopsy has the capacity to interpret infinite mutations which will pave the way for new drug discovery, research and therapies. Over 35 oncologists in India have already screened patients using our Oncotrack. Further, since it has a very patient-friendly approach, we are confident it will be very well accepted by the doctors and patients," said Dr V.L. Ramprasad, COO, MedGenome.

Oncotrack is a proven molecular tool after histopathology diagnosis and detecting molecular changes at baseline and at the time of relapse in lung and colon cancer for deciding the right treatment. 

MedGenome is a market leader for genomic diagnostics in South Asia and a leading provider of genomics research services globally. MedGenome offers genomics solutions in cancer immunotherapy, diabetes etc., and works with various commercial and academic researchers globally on genomic research projects. It is also a founding member of GenomeAsia 100K initiative to sequence 100,000 genomes in South, North and East Asia, Ramprasad said.

​Toronto, March 20 (IANS) Nearly 20 per cent of people receiving treatment for hypertension do not actually have a problem, but they are often misdiagnosed as a result of doctors using manual devices to measure blood pressure, a study has showed.

"About 20 per cent of people receiving treatment for hypertension don't actually have a problem and do not need medication. This is due mainly to the fact that their blood pressure was improperly measured," said lead author Janusz Kaczorowski, Professor at Universite de Montreal in Canada.

More than half of doctors in the study, published in the journal Canadian Family Physician, were found using manual devices to measure blood pressure, a dated technology that often leads to misdiagnosis.

A survey among Canadian family doctors in 2016 revealed that 52 per cent of the 769 respondents used a manual tensiometer to measure blood pressure. Only 43 per cent used an automatic device.

"Clinicians should use automatic devices," Kaczorowski said. 

Automated measurement has the advantage of eliminating what's known as white-coat syndrome -- which refers to artificially high blood pressure resulting from the stress of being in a doctor's office and human interaction.

Clinicians should adopt these devices to detect individuals likely to suffer from high blood pressure and reduce the risk of cardiovascular disease. 

It is possible to lower blood pressure through a healthy diet, regular physical activity, moderate alcohol consumption, reduced intake of dietary sodium, avoidance of exposure to tobacco products, and stress management, the researchers suggested.