Life-threatening disease in Children: Danish researchers expose new cause and understanding

Lars Allan Larsen

Danish researchers have just published findings that explain a previously unknown mechanism used by cells to communicate with one another.

The research significantly contributes to understanding why some children are born with malformations and why children and adults may develop life-threatening diseases.

Søren Tvorup Christensen

Dr. Søren Tvorup Christensen (Department of Biology) and Professor Lars Allan Larsen (Department of Cellular and Molecular Medicine) at the University of Copenhagen, in collaboration with colleagues in Denmark and France, have spearheaded the recent discovery which sheds new light on the causes of a range of debilitating diseases and birth defects.

Antennae-like structures on the surface of cells
Over the years, the research group has been a leader in primary cilium research.

Primary cilia are antennae-like structures found on the surface of nearly all cells in the human body.

These antennae are designed to receive signals, such as growth factor and hormones, from other cells in the body and then convert these signals to a response within individual cells.

Defective formation or function of these antennae can give rise to a range of serious maladies including heart defects, polycystic kidney disease, blindness, cancer, obesity and diabetes.

However, there remains a great deal of mystery as to how these antennae capture and convert signals within cells. The groundbreaking results have been published in Cell Reports, a prestigious scientific journal.

"We have identified an entirely new way by which these antennae are able to register signals in their midst, signals that serve to determine how cells divide and move amongst one another. This also serves to explain how a stem cell can develop into heart muscle," explains Søren Tvorup Christensen.

Dr. Søren Tvorup Christensen
"What we have found is that the antennae don't just capture signals via receptors out in the antennae, but they are also able to transport specific types of receptors down to the base of the antennae - where they are then activated and might possibly interact with a host of other signalling systems.

The receptors include the so-called Transforming Growth Factor beta (TGFβ) receptors which have previously been associated with birth defects and cancer.

Therefore, the base of the antennae can serve as a sort of control centre that coordinates the cell's ability to manage foetal development and the maintenance of organ function in adults."

TGFβ signalling and development of the heart 
Lars Allan Larsen has numerous years of experience in heart development research.

He adds "we know TGFβ signalling is very important during heart development and that a failure in this system can lead to the congenital heart defects that affect roughly 1% of all newborns.

Therefore, our discovery is a significant step towards demystifying the causes of congenital heart defects."

Professor Lars Allan Larsen
The two researchers also point out that defective TGFβ-signalling has been associated with neuro-degenerative diseases such as Alzheimers, Parkinsons disease and mental retardation.

Subsequently, the research group has begun studies on how these antennae - the primary cilia - regulate TGFβ-signalling during, among other processes, the transformation of stem cells into nerve cells.

"It's definitely an area that will be attracting lots of attention in years to come. Globally, there is a great deal of interest in understanding why the antennae are so important for our health," concludes the pair of researchers.

Amniotic fluid 'may heal premature baby gut'

Amniotic fluid, a clear liquid that surrounds the unborn baby (fetus) during pregnancy, may hold the key to healing a fatal gut disease which affects premature babies, doctors say.

Severe inflammation, called necrotizing enterocolitis, can destroy the gut's tissues and lead to major organ failure.

Early animal tests, published in the journal Gut, showed that stem cells inside amniotic fluid could heal some of the damage and increase survival.

Further tests are still needed before it is tried in premature babies.

Pregnancy fluid 
Babies born too soon are not ready for the world outside the womb and their guts are ill-prepared to deal with food.

About one in 10 premature babies in a neonatal intensive care will develop necrotizing enterocolitis.

The inflammation can cause tissue death and lead to a hole in the baby's intestines which can result in a serious infection.

Breast Milk
Breast milk can reduce the risks, but the only major treatment is surgery to remove the diseased tissue. However, 40% of those needing an operation will not survive.

Dr Simon Eaton

"It is quite a problem and we think it is on the increase," said Dr Simon Eaton, from the Institute of Child Health at University College London.

He was part of a team investigating the use of stem cells, which are able to become any other type of cell in the body from nerve to bone, taken from the amniotic fluid which surrounds a developing foetus in the womb.

In experiments on laboratory rats, which are programmed to develop fatal necrotizing enterocolitis, injections of stem cells appeared to increase survival times.

Dr Eaton stated: "We're able to prolong survival by quite a long way.

"What appears to be happening is a direct effect on calming inflammation and also stimulating resident stem cells in the gut to be more efficient at repairing the intestines."

The study showed the intestines were also working better after the treatment.

Dr Paolo De Coppi

Cancer risk?
Fellow researcher Dr Paolo De Coppi said: "Stem cells are well known to have anti-inflammatory effects, but this is the first time we have shown that amniotic fluid stem cells can repair damage in the intestines.

"Although amniotic fluid stem cells have a more limited capacity to develop into different cell types than those from the embryo, they nevertheless show promise for many parts of the body including the liver, muscle and nervous system."

Far more testing would be required to work out if the treatment would work in babies and if it would be safe.

The stem cells would have to be taken from a donor as it would not be practical to store fluid from every birth, just in case. This means there is the risk of rejection.

As the stem cells are capable of becoming other types of cells there is also concern that they may pose a cancer risk.

However, in the future doctors hope they could harness a drug instead.

"It's not the cells, they're delivering something and if we knew what that was then we could deliver that directly," said Dr Eaton.

Teenage Cancer Trust: The role of a Youth Support Co-ordinator - YouTube

Carrie is a Teenage Cancer Trust Youth Support Co-ordinator. She talks about how her role helps young people with cancer remain active and occupied during long stays in hospital and encourages them to share their experiences with each other.

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Parents of sick kids distrust online medical help - ‘Dr. Google’

Parents of children with cancer not only don’t trust online medical sites, but fear them as well, preferring instead to receive information from a trusted source, like a doctor.

“Respondents were telling us they were uncertain of the information online and that they were afraid of the unknown,” says study co-author Elizabeth Gage, professor of community health and health behavior at the University at Buffalo. “They didn’t want to run into stories about ‘the worst case scenario’.”

Gage, along with Christina Panagakis, a UB graduate student in sociology and colleagues at Roswell Park Cancer Institute, interviewed 41 parents of pediatric cancer patients in the U.S. to learn how caregivers use the Internet as an information source about their child’s illness, its prognosis, and potential treatment options.

Published in the journal Sociology of Health and Illness, the study suggests that beyond a distrust and fear of health-related Internet sites, online searching for information about an illness might vary between patients dealing with routine conditions and those faced with life-threatening problems.

“The likelihood of a patient going online might depend very much on context,” Gage explains.

Previous studies looked at what Gage described as routine, contested, or stigmatized illnesses, while her research contributes a piece of knowledge relative to severe pediatric illnesses.

“One of the reasons we were interested in exploring this issue is that so much research and media coverage had examined how the Internet was breaking down barriers between patients and caregivers and their physicians,” Gage says.

“But that wasn’t the case in our study. Perhaps because of the severity of the diagnosis, parents and caregivers preferred to receive their information from sources other than the Internet.”

The information-seeking behaviour of parents and other caregivers appears to be influenced by the volume of available information, Gage says.

Patients with routine illnesses might find minor details online that better inform their conversations with health care providers, but respondents in this study who were confronting a more serious diagnosis were overwhelmed by the often conflicting sources of online material.

“Families in our study did not know where to begin or how to sift through such a huge mound of information,” Gage says.

Those who did look for information through the Internet tended to limit their searches to what they considered more credible sources, such as medical journals and hospital libraries, the study says.

“A lot of families used the Internet to establish connections with other families in a similar situation, as much for emotional support as for reasons to share medical information,” Gage says.

“However, many families ascribed a certain expert status upon these individuals, almost elevating the experience of what they call “the veterans” to the same level as that of a trusted hospital-based site.”

More news from University at Buffalo: www.buffalo.edu/news

Cystic Fibrosis: New Bone Density Technology to Benefit Queensland Children

Queensland children who are affected by diseases that impair skeletal health like cancer or cystic fibrosis would soon experience the benefits of a new bone density technology.

The University of Queensland's (UQ), Children's Nutrition Research Centre (CNRC) have just received a Major Equipment and Infrastructure (MEI) grant from the University in order to purchase a DXA machine.

The DXA machine is a non-invasive x-ray technology that can measure body composition, bone loss, and bone mineral density in one simple scan.

Professor Peter Davies, CNRC Director remarked that aside from clinical testing, the scanner could contribute the in the centre's research capacity, minimize research costs, and foster collaborations with other research groups.

"Body composition testing has long been available in our Body Composition Laboratory, but we have been missing the ability to measure bone mineral density," Professor Davies said.

"The ability to test bone mineral density is vital for our research, as it allows us to understand the impact of disease, and any necessary treatments, on a child's ability to accrue bone.

"For example, children with conditions such as cancer, or cystic fibrosis, now have an improved life expectancy, but if they underwent cancer treatment at an age when they would normally be undergoing rapid bone growth they are at risk of future deficits in bone mineral density.

"This new machine will allow us to determine the long term impacts of treatment on their body composition and bone mineral density.

"Research in this area could enable us to improve the long-term outcomes for these children, and ensure their long-term health is protected with the right nutritional intervention.

"We are thrilled with this grant success and conscious that the capacity for in-house DXA scanning will reduce research costs for our centre, and many other research groups on campus.

"Previously, the CNRC and other research groups incurred considerable expense to outsource DXA scanning."

The Queensland Children's Medical Research Institute and Cancer Prevention Research Centre have contributed to the purchase of the DXA machine, a partnership which will see many research groups benefit from the ability to measure bone density, without incurring additional expenditure.

The DXA machine will reside in the CNRC's Body Composition Laboratory, based at the Royal Children's Hospital at Herston.

The laboratory is used for paediatric nutrition research and clinical testing of sick children, and is one of the best equipped of its kind in the Southern Hemisphere.

Sleep Infographic: What If You Don't Sleep Enough?

To see the full Infographic chart click on the sample image.

How many times have you told yourself "... it's just sleep." but what happens to your health when you're not sleeping enough?

This infographic designed by FFunction for Zeo, a company that makes an electronic "sleep coach," is less of a real data visualization than a set of illustrated facts but those facts are pretty impressive.

For example, we seem pretty tired all the time and only 7% of people get the necessary eight hours of sleep at night but the effects of this might be more than inconvenient. They may be disasterous.

Getting less sleep is now associated with a 200% rise in cancer, a 100% rise in heart disease, and a 20% rise in the likelihood you'll be dead in 20 years.

UnfortunatelY, not only will you be less healthy, you'll also be fatter. People who sleep an hour more each day lose 14.3 pounds per year and 1 in 3 women find themselves too sleepy for sex!

Studies have shown that sleeping too little effectively puts the body on "high alert," creating increased stress hormones and chemicals associated with inflammation.