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Blood Test Developed to Diagnose Early Onset Alzheimer’s Disease

A non-invasive blood test that could diagnose early onset Alzheimer’s disease (AD) with increased accuracy has been developed by University of Melbourne researchers.

The research team previously identified that changes in the brain occur two decades before patients show signs of dementia. These changes can be detected through expensive brain imaging procedures. The new early detection blood-test could predict these changes and a person’s risk of developing AD much earlier than is currently possible.

The blood test has the potential to improve prediction for AD to 91 per cent accuracy. However, this needs to be further tested in a larger population across three to five years, due to AD being a progressive disease.

In an initial trial group using the blood test, one in five healthy participants with no memory complaints tested positive. On further medical investigation using brain-imaging techniques, these patients showed signs of degeneration in the brain resembling AD features.

Lead researcher Professor Andrew Hill from the Department of Biochemistry and Molecular Biology and Bio21 Institute said the blood test would significantly advance efforts to find new treatments for the degenerative disease and could lead to better preventative measures prior to diagnoses.

“This blood test would be crucial to the development of therapeutic and preventative drugs for AD. It can be used to identify patients for clinical drugs and monitoring improvement on treatment,” he said.

The high accuracy of this blood test for the brain disorder comes from the ability to harvest protected bubbles of genetic material, called microRNA, found circulating in the bloodstream. Those with AD contain a certain set of microRNA which distinguishes them from healthy people.

Dr Lesley Cheng from the Department of Biochemistry, Molecular and Cell Biology Bio21 Institute believes this test is an accessible method for patients to accurately predict their susceptibility to AD. 

“This test provides the possibility of early detection of AD by using a simple blood test which has been designed to also be cost-effective. Furthermore, it is highly accessible for patients and physicians compared to organising a brain scan or undergoing a neuropsychological test.

“Patients with a family history of AD or those with memory concerns could be tested during a standard health check at a medical clinic. This test could ease concerns for patients experiencing normal memory problems due to natural ageing. Those identified as high risk could then be monitored by their doctor,” she said. 

The research, published in Molecular Psychiatry, was done in collaboration with The Florey Institute of Neuroscience and Mental Health, the CSIRO and Austin Health and Australian Imaging Biomarker and Lifestyle (AIBL) study of Aging.

It was funded by Alzheimer’s Australia, the National Health and Medical Research Council, The ANZ Judith Jane Mason and Harold Stannett Williams Memorial Foundation and the Science Industry Endowment Fund.

Liz Banks-Anderson
Tel: + 61 3 8344 4362
0405 195 394

Source: University of Melbourne

Providing Financial Help to Families of Children With Rare Illnesses.

Alberta’s health care coverage assists many, but there are instances where our youngest, most vulnerable citizens, are left out in the cold.

Doug Cabral became aware of the issue when a family member had a child with a rare illness and the treatment was not covered. Cabral witnessed the impact the financial burden had on his family.

“My grandfather Chuck Hogan had expended a lot of his time and resources over those two years, trying to make ends meet for the family,” recalls Cabral. “I realized there are a lot of families out there that can’t get funding that early to help them out through what’s the most important struggle of their life.”

Following the child’s death at the age of two, Cabral created the Sarah Faith Hogan Memorial Foundation in memory of his little cousin.

Rachael O’Neill and her husband have a son, Enzo, who has an extremely rare condition.

Rachael says the family had used up nearly all of their savings buying a very expensive formula for Enzo before they learned of the Sarah Faith Hogan Memorial Foundation.

“We were paying between $2,000 and $3,000 a month for formula,” said Rachael. “Both my husband and i had taken a substantial amount of time off of work.”

Doug Cabral says it can take a long time for government funding to kick in for children like Enzo and that’s where the Sarah Faith Hogan Memorial Foundation helps.

“When they come to us and we go through our nominations committee, talk to the doctors, social workers, establish need, and how we can best help them,” explains Cabral, “we’re able to help with those things right now.”

The O’Neill family has come very close to losing Enzo and, at times like that, nothing else matters and that includes going to work.

“We absolutely could not have been able to drop everything if we didn’t have the support of the Sarah Faith Hogan Memorial Foundation,” said Rachael.

The foundation’s largest funding source is its annual Calgary Get Your Hearts On gala.

“Next year’s gala is February 7th,” said Cabral. “We’ve called it the roaring gala with a splash of red. “It’s at Fort Calgary and it’ll be a 20’s-30’s theme.”

All of the money raised will go to help families of children undergoing medical treatment.

For all he does for families facing huge expenses because they have young children with rare illnesses, Doug Cabral is this week’s Inspiring Albertan.

Source: Calgary CTV News

Discovery of a Novel Heart and Gut Disease

Physicians and researchers at CHU Sainte-Justine, Université de Montréal, CHU de Québec, Université Laval, and Hubrecht Institute have discovered a rare disease affecting both heart rate and intestinal movements. The disease, which has been named “Chronic Atrial Intestinal Dysrhythmia syndrome” (CAID), is a serious condition caused by a rare genetic mutation. This finding demonstrates that heart and guts rhythmic contractions are closely linked by a single gene in the human body, as shown in a study published on October 5, 2014 in Nature Genetics.

The research teams in Canada have also developed a diagnostic test for the CAID syndrome. “This test will identify with certainty the syndrome, which is characterized by the combined presence of various cardiac and intestinal symptoms,” said Dr. Gregor Andelfinger, a pediatric cardiologist and researcher at CHU Sainte-Justine “The symptoms are severe, and treatments are very aggressive and invasive, added Dr. Philippe Chetaille, a pediatric cardiologist and researcher at the university hospital CHU de Québec.” At cardiac level, patients suffer primarily from a slow heart rate, a condition which will require the implantation of a pacemaker for half of them, often as early as in their childhood. At digestive level, a chronic intestinal pseudo-obstruction will often force patients to feed exclusively intravenously. Furthermore, many of them will also have to undergo bowel surgery.

Discovery of the CAID Syndrome

By analysing the DNA of patients of French-Canadian origin and a patient of Scandinavian origin showing both the cardiac and the gastrointestinal condition, the researchers were able to identify a mutation in the gene SGOL1 that is common to all of patients showing both profiles. “To lift any doubts concerning the role of the identified mutation, we also made sure it was ruled out in people showing only one of the profiles,” said Dr. Andelfinger. Similarly, Dr. Jeroen Bakkers, at Hubrecht Institute, in The Netherlands, who also collaborated to the project, studied zebrafish with the same gene mutation “The mutated fish showed the same cardiac symptoms as humans, which confirms the causal role played by SGOL1″, he continued.

A Transatlantic Founder effect The research team traced back the genealogy of eight patients of French-Canadian origin using the Quebec population BALSAC historical data base. They were able to identify a common ancestry dating back to the 17th century, more precisely a founder couple married in France in 1620. Molecular genetic tests also proved that the identified French-Canadian and the Swedish mutations share the same origin, suggesting the existence of a founder effect and the major role played by migration of populations. According to the investigators’ calculations, the genetic legacy would date back to the 12th century, then following the migration route of the Vikings from Scandinavia to Normandy, then that of the settlers who migrated to New France in the 17th century.

An Unsuspected Role for SGOL1

The researchers believe that the mutation of SGOL1 acts mechanistically to reduce the protection of specific nerve and muscle cells in the gut and the heart, causing them to age prematurely due to an accelerated replication cycle. Their findings suggest an unsuspected role for SGOL1 in the heart’s ability to maintain its rhythm throughout life. The specific role played by the gene and the impact of its mutation will take center stage in future investigations of the research group. Along with physicians and patients, the group hopes their understanding of the disease will help them identify new avenues for treatments specifically targeting the underlying genetic and molecular causes.

About the Study

The study “Mutations in a novel because SGOL1 cohesinopathy affecting heart and gut rhythm” was published in Nature Genetics on October 5, 2014. Funding for this project provided by the FORGE Canada Consortium, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Genome Quebec, Genome British Columbia, and André Foundation Nussia Aisenstadt, GO Foundation, Leducq Foundation and Association des pseudo-obstructions intestinales chroniques, France.

About the Researchers

Dr. Gregor Andelfinger, MD is a pediatric cardiologist at CHU Sainte-Justine, a researcher at Sainte-Justine University Hospital Research Center in the Fetomaternal and Neonatal Pathologies axis, and Associate Research Professor in the Department of Pediatrics at Université de Montréal. He also holds a Research Chair in cardiovascular genetics.

Dr. Philippe Chetaille, MD, MSc, is a pediatric cardiologist at CHU de Québec, an Associate Researcher at CHU de Québec Research Centre and a Full Associate Professor in the Department of Pediatrics at the Université Laval

Dr. Jeroen Bakkers, PhD, is a senior principle investigator of the Cardiac Development and Genetics group at the Hubrecht Institute in Utrecht, the Netherlands.

Interviews and Filming Opportunities

Researchers, physicians, patients and parents are available for interviews on request.

Source: University of Montreal

Mum Donates Kidney to Save Her Son’s Life

Marie Stephenson was found to be the closest match for toddler John, who was diagnosed with a rare genetic disorder when he was just five weeks old.

Both Marie and John have now fully recovered from the ordeal and are leading healthy lives.

Marie, 33, said John seemed perfectly normal when he was born at home in Over Kellet.

She said: “He looked a healthy new born, but as the weeks passed we noticed he was a very unsettled baby and we decided to take him to hospital when he was five weeks old as he seemed very puffy and his skin was mottled.

“We were bathing him one night and his tummy button popped out filled with fluid.”

Doctors initially thought John was suffering from malnutrition, but the next day tests showed he had congenital nephrotic syndrome, which meant he would need an early kidney transplant and had a 50 per cent chance of survival.

As a result of the condition, John’s kidneys were leaking protein known as albumin, along with a few other key blood components.

The tot lost eight-and-a-half ounces overnight from fluid being drained from his tiny body, dropping to below his birth weight.

John was transferred to the Royal Manchester Children’s Hospital, where the condition is so rare they see just one child every 18 months with it.

During his stay, the family was filmed by Channel 5 for a TV programme on life at the hospital, which will be screened this Christmas.

At nine months life became more normal for the family after parents Marie and Mike, 38, were trained to carry out John’s treatment at home.

However, at 19 months old John’s kidneys started to fail and by the time he was two-and-a-half he was on dialysis.

In January this year, both of John’s kidneys were removed.

Tests showed that Marie was the best match, and on July 24 a transplant took place in Manchester Royal Infirmary.

Marie said: “We have never looked back. It has changed our lives forever.

“John stayed in hospital for seven days but bounced back really quickly, and I went back to work two weeks later.”

John, who goes to Hornby nursery, is on anti-rejection drugs for the immediate future and will be checked every two months, but otherwise can live a normal life.

Marie said: “He is just amazing, he has so much energy now.”

The family is now aiming to raise money for the Kidneys for Life charity through an open day at 315 Gym, where both John and his sister Lexi, four, go swimming with the Piranhas Swim School.

The open day, complete with a duck race and bouncy castles and sponsored by Morecambe FC, is on Sunday, September 28 from 11am.

Piranhas have also elected Kidneys for Life as their 2014/2015 charity.

Marie, said: “John’s care cost £28,000 so we are hoping to raise that amount over a series of events.”

Source: Lancaster Guardian

Beckwith-Wiedeman Syndrome. Heartfelt appeal for help

AN IRISH family has issued a heartfelt appeal for help in getting their eight-month-old son to the US so his rare genetic condition can be treated.

Noah Drake-Brennan was born with Beckwith-Wiedeman Syndrome (BWS) and his parents, Emma and Philip, hope a €30,000 surgery in a specialist Missouri hospital will help transform his life.

BWS was originally known as EMG-Gigantism given that those born with the syndrome suffered from over-sized physical features. These can range from over-sized organs to limbs.


The syndrome is a genetic disorder and Noah was born with an over-sized tongue.

The danger for the little Carrigaline, Co Cork boy is that his tongue poses the risk of blocking his airways. Noah was born 10 weeks premature and had to be placed on a respirator for his first three months.

“Surgery will eliminate this [breathing] risk and allow us all to sleep peacefully for the first time since he was born,” Emma explained.

“As a baby he would regularly stop breathing in his sleep which is a terrifying situation for any parent.”

The Missouri surgery will see Noah’s tongue reduced in size.

The surgery has to be carried out while Noah is young to prevent any possibility of facial or jaw distortion. Children who do not have the surgery completed in their first 18 months have problems with jaw distortion and can even have their teeth gradually pushed out of place.

In some extreme cases, the children’s speech is even affected by the size of their tongue.

Once Noah has recovered from the procedure he should be able to feed himself. Emma and Philip and their friends have already raised €15,000 towards the cost of the surgery but need another €15,000.

The couple are now in a race against time because the surgeon who specialises in the procedure is due to retire and Noah’s case is one of the last he is scheduled to handle.

The little Cork boy’s surgery is provisionally scheduled for October 25.

“Noah is such a happy and easy-going baby – we hope and pray that Noah will be able to achieve the same things as other children in spite of his condition,” Emma added.

The couple have set up the Baby Noah Trust with full details on their Facebook site.

Donations can be made to BNT at AIB Carrigaline, Cork A/C No 18162083 and Sort Code 93-43-13.

Source: Herald

Ebola: what you need to know

Updated by on July 29, 2014, 9:00 a.m. ET from Vox Media

The deadliest Ebola outbreak in recorded history is happening right now. The outbreak is unprecedented both in infection numbers and in geographic scope. And so far, it’s been a long battle that doesn’t appear to be slowing down.

The current outbreak has killed 672 people and infected about 1,200

The Ebola virus has now hit four countries: Sierra Leone, Guinea, Liberia, and recently Nigeria, according to the country’s ministry of health.

The virus — which starts off with flu-like symptoms and often ends with horrific hemorrhaging — has infected 1,201 people and killed an estimated 672 since this winter, according to the numbers on July 23 from the World Health Organization.

Ebola is both rare and very deadly. Since the first outbreak in 1976, Ebola viruses have infected thousands of people and killed roughly 60 percent of them. Symptoms can come on very quickly and kill fast:

Journalist David Quammen put it well in a recent New York Times op-ed: “Ebola is more inimical to humans than perhaps any known virus on Earth, except rabies and HIV-1. And it does its damage much faster than either.”

So why is Ebola doing so much damage right now? Here’s a primer on what’s going on.

Why is Ebola back in the news?

Ebola tends to come and go over time.

The viruses are constantly circulating in animals, most likely bats. Every once in a while, the disease spills over into humans, often when someone handles or eats undercooked or raw meat from a diseased ape, monkey, or bat. An outbreak can then happen for several months. And then it becomes quiet again.

Ebola can completely disappear from humans for years at a time. For example, there were zero recorded cases of Ebola in 2005 or 2006.

The current outbreak has been going on since late 2013 or early 2014 and has been getting extra attention in the news recently as several doctors have caught the disease, including a Liberian doctor (who died) and Sierra Leone’s top Ebola doctor (who is undergoing treatment).

Where is the current Ebola outbreak?

The current outbreak started in Guinea sometime in late 2013 or early 2014. It has since spread to Sierra Leone, Liberia, including some major capital cities. And one infected patient traveled to Nigeria on a plane, according to the Nigerian Ministry of Health.

Why is this particular outbreak so deadly?

For starters, this outbreak concerns the most deadly of the five Ebola viruses, Zaire ebolavirus, which has killed 79 percent of the people it has infected in previous outbreaks. (The virus is called that after the formerly named Zaire, which, along with Sudan, experienced the first Ebola outbreak back in 1976.)

There are also social and political factors contributing to the current disaster. Because this is the first major Ebola outbreak in West Africa, many of the region’s health workers didn’t have experience or training in how to protect themselves or care for patients with this disease.

What’s more, an NPR story suggests that people in these countries tend to travel more than those in Central Africa (where outbreaks usually occur). That may have helped the virus disperse geographically, and it made it difficult to track down people who might be infected.

Meanwhile, as an editorial in the medical journal Lancet noted, social stigmas and a lack of awareness may lead people to not seek medical care (or even avoid it). Another often-cited problem is that some people have had direct contact with victims’ dead bodies during funerals and preparations for burial, which can spread the disease.

In many ways, how well a country deals with Ebola comes down to basic health care and public education

Some people are afraid that medical workers are causing Ebola, and workers “have been threatened with knives, stones and machetes, their vehicles sometimes surrounded by hostile mobs,” according to the New York Times.

The humanitarian group Doctors Without Borders has noted 12 villages in Guinea that might have Ebola but aren’t safe for workers. In Sierra Leone, a protest against a clinic led to the police using tear gas. And a World Health Organization assessment in Liberia noted problems with tracing patients’ contacts with other people, “persisting denial and resistance in the community,” and issues with “inadequate” measures used to prevent and control infections, weak data management, and “weak leadership and coordination,” according to a statement released on July 19.

In many ways, how well a country can deal with an Ebola outbreak comes down to basic health-care practices and public education. With enough resources poured into the effort, people should be able to contain this outbreak. So far, however, these countries are really struggling.

Does Ebola really make people bleed from their eyes?

Yes. Bleeding from orifices is one of the more unusual and memorable symptoms of viral hemorrhagic fevers like Ebola. In later stages of the disease, some people bleed from the eyes, nose, ears, mouth, and rectum. They may also bleed from puncture sites if they’ve had an IV.

External bleeding can be one of the main symptoms that can help people realize they’re dealing with a case of Ebola, since other signs — first fevers and headache, then vomiting and diarrhea — can be caused by any number of illnesses. Internal bleeding can happen, as well.

But it doesn’t always happen. For example, this study of a 1995 outbreak in found external bleeding in 41 percent of cases. And bleeding didn’t correlate with who survived and who didn’t.

What actually kills people is shock from multiple organ failure, including problems with the liver, kidneys, and central nervous system.

Symptoms come on abruptly after an incubation period of 2 to 21 days. And people generally die between day 6 and 16 of the illness.

Why is Ebola so deadly?

One of the main things that seems to make Ebola viruses especially deadly is that they seem to be able to evade much of the human immune system. Among other problems, white blood cells from the immune system are often seen to die off in patients. And if the body can’t fight fully back, the virus can just keep taking over.

Scientists are still figuring out exactly how this happens, and they have several promising leads. One is that the virus is making proteins that act as decoys, interfering with the body’s ability to fight back.

How hard is it to catch Ebola?

Ebola is relatively hard to catch compared to some other viruses like measles, SARS, or the flu because it doesn’t like to hang out in the air.

In order to contract Ebola, someone must touch the blood or bodily fluids (including sweat, urine, and semen) of a person or animal who’s infected (alive or dead). People can also catch it through indirect contact with victims’ fluids, such as via bedding or medical equipment.

People generally aren’t infectious until they get sick.

Ebola’s limited transmission ability is one of the main reasons why outbreaks can often be stopped within weeks or months. What it takes is public education and good health-care hygiene like isolating patients, sterilization procedures, and the use of gloves, masks, and other protective gear.

What are the chances of Ebola spreading to the US?

The Ebola viruses known today don’t spread from person-to-person well enough to have much risk of causing a wide pandemic across several continents. The risk of Ebola coming to the US is still very low.

And if a case did appear in the USA, it “would not pose a major public health risk” Michael Osterholm, biosecurity expert and director of the Center for Infectious Disease Research and Policy at the University of Minnesota told USA Today. Why? Because it would be quickly tracked down and controlled.

How do you treat Ebola?

Patients are treated for symptoms, including IV fluids for dehydration. It’s important to remember that some people do survive an Ebola infection.

Hopefully, in the future there will be more options. For example, researchers are working to find drugs, including a recent $50 million push at the National Institutes of Health. And scientists are working on vaccines, including looking into ones that might be able to help wild chimpanzees, which are also susceptible to the disease.

Update: Removed a statement that Ebola cannot be caught from a cough or sneeze.

source: http://www.vox.com/2014/7/29/5945515/ebola-outbreak-virus-disease-symptoms-africa-facts-guinea-nigeria

author: Susannah Locke, Vox Media