Scientists Have Identified 40 New Genes Linked to Intelligence

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Scientists have discovered 40 new genes that appear to be linked to intelligence, and the find could help neurologists understand how the human brain develops key functions associated with thinking.

While the influence of these genes on intelligence is expected to be “minuscule” – a wide variety of factors are known to contribute to our IQ and general intelligence – the discovery could one day allow researchers to untangle the complicated web of ‘nature and nurture’ when it comes to identifying the fundamental causes behind our range of intellects.

Led by Danielle Posthuma from the VU University Medical Centre Amsterdam in the Netherlands, the study combined existing genomic data of nearly 80,000 unrelated adults and children of European descent, and identified mutations across 52 genes that were related to their intelligence scores, according to a variety of tests.

The research was carried out using two different forms of genetic analysis. One identified mutations in a group of 22 different genes, which in combination could account for almost a 5 percent difference in intelligence measurements.

A second analysis that compared whole genes rather than mapping specific mutations found a total of 47 genes, 17 of which had also been found using the first analysis.

All up, 40 of the total number of genes found by both methods hadn’t been previously implicated in intelligence.

To double-check their findings, the researchers applied their results to another genome-wide association study. Since this one didn’t come with a ready-made set of IQ measurements, they used education level as a rough approximation for an intelligence score instead.

Nearly all of the mutations they’d spotted in their previous research once again indicated a relationship with intelligence, while 15 of the 47 genes they’d found in the second analysis also popped up again.

Comparing the identified genes with a database of known pathways identified the genes that were already known to play a role in synapse formation, guidance of the nerve’s axons, and neural differentiation.

One of the strongest correlations between genetics and intelligence were mutations found in a gene called FOXO3, and the coding that promotes its expression.

FOXO3 is part of a pathway that triggers cell death as a result of certain chemical stresses.

Interestingly, the team also found a number of other relationships between genes and characteristics to do with body mass, schizophrenia, and Alzheimer’s disease.

In recent years, the evidence has piled up in support of the view that genes determine the range of many cognitive functions associated with something called ‘g factor‘ – a general measure of cognitive ability that dates back to the early 20th century.

The history of looking to our biology – and especially our genes – to help explain differences in human intelligence is one that has been fraught with controversy, often due to our valuing some cognitive abilities over others.

So while it pays to be cautious, research like this can also help us identify which traits can be influenced by education, diet, or even the microbes in our guts.

And knowing more about the relationship between our cognitive characteristics and our genes might even help us understand more about the evolution of our intelligence, and which direction it’s headed.

This research was published in Nature Genetics.

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ICMR launches Grants Programme for Implementation Research on Maternal and Child Health

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The Indian Council of Medical Research (ICMR) has launched the Grants Programme for Implementation Research on Maternal and Child Health.

“Implementation research is the scientific inquiry into questions concerning implementation—the act of carrying an intention into effect, which in health research can be policies, programmes, or individual practices (collectively called interventions).”   IR can consider any aspect of implementation – including the factors affecting implementation, the processes of implementation, and the results of implementation, including how to introduce potential solutions into a health system or how to promote their large scale use and sustainability.

The intent is to understand what, why, and how interventions work in “real world” settings and to test approaches to improve them. National Implementation Research platform: Realising the need and relevance, a national platform for technical support for implementation research (IR) has been created to address maternal and child health issues including nutrition. This platform aims to provide opportunity to frame implementation research in the most useful and imaginative way to contribute to effective scale up of MNCH care.

The ICMR’s initiative in this regard is significant as India has made significant progress in reducing under five, neonatal and infant mortality rates and maternal mortality ratio.  However, the rates are still very high in many parts of the country. Under the National Health Mission (NHM) of Government of India, evidence based interventions that improve maternal and child survival are being promoted. Many challenges are being faced by programme managers while implementing these interventions/programmes.

To achieve Sustainable Development Goal 3, efforts are needed to reach healthcare for all by ensuring implementation of known interventions, developing better means of delivery of the existing interventions to address health issues of mothers and children specifically in states with high mortality rates, identifying bottleneck in delivery of health care and finding solutions to remove the bottlenecks.

The ICMR has now called for Letters of Intent (LOI) from research institutions and teams within the country who are involved or interested in implementation research by May 31, 2017.

The priority areas of this programme include Find and implement effective strategies to improve quality of care during childbirth in the public health system to achieve safe and healthy childbirth and early postnatal care; Develop effective strategies for early identification, referral and management of high risk pregnancies with clear links between the different levels of the health system; Find and implement effective strategies for improving Emergency Obstetric Care (EmOC) services to successfully manage maternal and fetal complications; Learn how to effectively implement the new WHO ANC model, to reduce stillbirths and early neonatal deaths; Develop effective delivery of evidence-based care protocols/ algorithms for prevention and management of post partum haemorrhage at different levels of care Newborn Health; and Develop and implement at scale strategies to provide high quality care for small and sick babies in hospitals (SNCUs).

Other priority areas of this programme include Develop and implement strategies at scale for integrated and comprehensive maternal and newborn health care package across the continuum of care (improve link between care in labour room, postpartum ward and SNCU); Strategies to scale up Home Based Newborn Care: Role assignment and rationalization for frontline workers, barrier identification and mitigation, cost effectiveness; Implementation at scale of treatment of suspected neonatal sepsis at outpatient level (sub-centre, PHC, CHC or hospital) when inpatient treatment is not possible; Develop and implement strategies for effective maternal and perinatal and newborn healthcare in the urban areas; achieving high coverage and quality of home-based newborn care in diverse rural / tribal / urban settings; harnessing mobile technology; and Establishing an innovative framework of monitoring and supervision with in-built mechanism of accountability to improve performance of frontline workers and health personnel involved in neonatal care (e.g., physical supervision; engaging PRIs and clients; use of ICT, telemedicine, mHealth).

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This Simple Blood Test Can Predict Cancer as Accurately as a Lump in The Breast

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A common blood test has shown to be just as accurate in predicting any type of cancer as a lump is for breast cancer, and researchers say it’s the most promising detection method for cancer in 30 years.

A high number of platelets (tiny blood cells that help wounds clot) have been linked to an increased risk of all forms of cancer, and scientists are now urging doctors to consider thrombocytosis – a condition where too many platelets are produced in the body – as a detection method for patients who are yet to show symptoms.

“Our findings on thrombocytosis show a strong association with cancer, particularly in men – far stronger than that of a breast lump for breast cancer in women,” says one of the team, Willie Hamilton from the University of Exeter in the UK.

“It is now crucial that we roll out cancer investigation of thrombocytosis. It could save hundreds of lives each year.”

Thrombocytosis affects around 2 percent of people over the age of 40, and it’s been linked to cancer before. What this new study does is establish a stronger link across all ages and genders, and with cancer in all areas of the body.

The researchers looked at 31,261 records of patients in the UK with a high platelet count (thrombocytosis), and 7,969 records of patients whose platelet count was normal.

They found that 11.6 percent of males with thrombocytosis went on to be diagnosed with cancer within a year, compared to 4.1 percent of those without. For females, cancer developed in 6.2 percent of those with thrombocytosis, compared to 2.2 percent without.

If a second high platelet count was recorded within six months, those risks went even higher: 18.1 percent for males and 10.1 percent for females.

A lump on the breast turns out to be cancerous in around 8.5 percent of cases for women aged 50 to 59 years, by comparison.

The researchers report that Lung and colorectal cancer were the types most commonly linked to thrombocytosis.

What’s more, one-third of those with lung or colorectal cancer had no other symptoms of the disease apart from thrombocytosis – which means this could be a very important indicator in the future for cases when cancer wouldn’t otherwise be spotted so soon.

The team says this the first new indicator of cancer to have been clearly identified in the last three decades, with the potential to identify thousands of cancers earlier and save hundreds of lives a year.

While early diagnosis is just one of many factors that affect the chances of someone getting better, it’s known to improve survival rates across all types of cancer.

“We know that early diagnosis is absolutely key in whether people survive cancer,” says one of the team, Sarah Bailey.

“Our research suggests that substantial numbers of people could have their cancer diagnosed up to three months earlier if thrombocytosis prompted investigation for cancer. This time could make a vital difference in achieving earlier diagnosis.”

The research has been published in The British Journal of Medical Practice.


GST to allow easy access for medical devices

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Goods and Services Tax (GST) places medical device companies in a better position to transport its products to any part of the country. This would also help reduce warehouse and transportation costs, said Chander Shekhar Sibal, head, medical division, Fujifilm India.

Other steps in the right direction by the government are the notified Medical Devices Rules, 2017 to be enforced from January 1, 2018 to standardise the imported product manufacture and stop anti dumping. A concept like the Andhra Pradesh MedTech Zone (AMTZ) at Visakhapatnam is seen to bolster the Make in India programme, he added.

The government has also initiated screening programmes and is keen to open cancer centres. It is here that Fujifilm will scout for collaborations to support the initiatives like mobile van for screening which would in turn help the company increase its marketing presence in tier 2 and tier 3 towns for radiology, Sibal told Pharmabiz.

With an intent to drive preventive healthcare, the government is looking to equip hospitals with technology. Digitization has improved workflow quality which increases efficiency in hospitals and advanced medical technology enables doctors to treat more patients.

In India, Fujifilm deals with radiology products which facilitates digitizing of x-rays to store and retrieve images. Its Image Intelligence ensures consistent high quality output of x -ray films and dry laser imagers. In addition. the company deals with endoscopy machines and point of care ultrasound: Sonosite. It is engaged with few Indian companies to integrate its Fujifilm technology in x- ray machines and its mobile MicroSkan DR is manufactured by the Mysuru-based Skanray, he added.

Its India focus is on digital mammography because of the rising incidence of 1.50 lakh new breast cancer patients and 50 percent succumbing to it. To spur early detection of breast cancer, the company has already supplied over 20 FFDM (Full filled digital mammography) across hospitals, medical colleges and diagnostic centres including Tata Memorial Hospital, Amulet Innovality at Batra hospital in Delhi, Tata ATREC, NM Medical in Mumbai, Sri Ramachandra University, Chennai and Mahajan Imagimg. With over 25,000 installations, Fujifilm caters to almost 50% of the market here. Specific to digital radiology, it has around 400 systems installed in India accounting for 40% of market share.

According to Sibal, imaging technology is critical for India. With an acute shortage of radiologists to report images of CT scan, MRI, x-rays, there is a huge need for a tele radiology infrastructure. The present government spend on imaging technology is a mere 1.5% and needs to raise it to 2.5%. Electronic medical records and digitization would allow faster storage and retrieval of scanned images for speedy diagnosis. In tier 2 and tier 3 towns efforts for medical digitization are on. But most of the time, government projects are delayed, hampering public- private partnership

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Repeated Brain Zapping Has Helped Minimally Conscious Patients Communicate Again

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Scientists have used electrical stimulation of the brain to give minimally conscious patients the ability to communicate for up to a week, after a repeated series of treatments.

The new technique gives hope to patients and families affected by consciousness disorders, suggesting that there are ways for them to stay connected for days at a time, despite severe damage to the brain.

Minimally conscious states are different from more severe consciousness disorders like persistent vegetative states or locked-in syndrome, because patients can still follow very simple commands, and have purposeful behaviours.

Back in 2014, researchers discovered that running a mild current through the brains of people in a minimally conscious state could help them communicate for up to 2 hours after treatment.

This new study, led by physiotherapist Aurore Thibaut from the University of Liège in Belgium, followed up that earlier research, by applying transcranial direct current stimulations (tDCS) to 16 patients in a double blind, randomised experiment.

Patients were all diagnosed as minimally conscious after some form of brain trauma, oxygen deprivation, or stroke had left them with only low levels of awareness of their surroundings for sustained periods.

Those receiving the treatment had electrodes placed on their scalps and a mild, 2-milliamp current run across their left prefrontal cortex for 20 minutes over five consecutive days.

The control version of the treatments was similar, with the current only being applied for 5 seconds.

As in the previous study, those patients receiving tDCS showed various levels of significant improvement in the scores used to determine their consciousness for up to seven days after the last session, which included consistently responding to commands, recognising the positions of objects, automatic motor responses and following movements with their eyes.

Two patients had improved to the point where they were able to functionally communicate.

“They couldn’t speak, but we could ask questions, such as, “Is your name David?” and they answered ‘yes’ or ‘no’ by moving a part of their body, like their tongue or their foot,” Thibaut told New Scientist.

While four patients responded after the first treatment, reflecting a similar fraction who responded to the single treatment in the 2014 study, other patients took up to four days to show signs of improvement, suggesting that repeated exposure could help treat additional patients.

“The increased effects of tDCS over the sessions could be due to an increase in NMDA receptor excitability, which could improve and strengthen cortical excitability within the stimulated area,” the researchers write in their report.

This might not be a cure, but it is a considerable step up from current treatments, including an anti-viral drug typically used to treat Parkinson’s disease called amantadine, which has been linked with epileptic seizures,

According to the researchers, TDCS has no reported side effects if used properly.

In fact, in other experiments, this form of electrical stimulation has been shown to improve cognition in healthy research subjects by boosting maths scores, and is even being considered by the military as a way to help personnel concentrate under pressure.

While experts say there are good reasons to remain cautious about its commercialisation, under medical conditions, tDCS appears to be a low risk way for those with disorders of consciousness to awaken to some small degree.

Further studies are needed before anybody can say for certain that it can be considered completely safe for daily use over the long term, or if the treatment’s effectiveness might decrease over time.

“We need to see what happens when we use it for perhaps 5 hours a day, or what happens if we apply it daily for three months. We need to be really careful,” said Thibaut.

But given the potential, and the fact tDCS devices can be easily used at home, these are some promising signs.

This research was published in Brain Injury.

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