Digestive Cancers Europe has launched a campaign to promote colorectal cancer screening at the occasion of the start of European Colon Cancer Awareness Month (ECCAM). The event took place at the European Parliament and was hosted by MEP Lieve Wierinck (ALDE).
The Basque region, the Netherlands and Slovenia show the way…

Building on the successful 2018 theme #Time4Change, this year ECCAM will be focusing on making people aware of the benefits of detecting colorectal cancer early by taking the screening test which Digestive Cancers Europe believes may save an additional 130,000 lives every year.
Every year, 370,000 citizens in the European Union get a diagnosis of colorectal cancer and 170,000 of them die. Patients who are detected early (Stage I), have a chance of survival of 90% as compared to only 10% when detected in stage IV. Despite the fact that colorectal cancer evolves slowly, over a period of eight to ten years, the majority of patients are still detected in the late stage III & IV.
This makes the case for early screening an easy one, especially because the treatment of early-stage cancer is cheaper than late stage, and over 3 billion euro of savings could be generated in the healthcare system every year.

The campaign consists of three activities:

• #My Best 10 Seconds – The launch of a Public Awareness Campaign on the importance of getting screened. This social media campaign focuses on the little effort it takes to get screened and the huge life-saving impact it may have. A video shows other small daily things that take up ten seconds of anybody’s time. In colorectal cancer screening, this little effort may save one’s life.
• A White Paper on Colorectal Cancer Screening in Europe – the paper comes with ten policy recommendations to improve the current situation in the European Union. Only
• A Roadmap for Colorectal Cancer Screening. The publication offers a step-by-step approach on how to organize colorectal cancer screening campaigns at national level, based on the good results of Slovenia, the Netherlands and the Basque region in Spain.

The Public Awareness Campaign will be launched through social media in Finland, France, Italy, Portugal, Slovakia and Spain.  The video campaign is addressed at citizens of 50 and older. Ads will appear in news feeds on Facebook and as ‘pre-roll’ on YouTube, aiming to reach over 1 million citizens. National Associations will further amplify the efforts locally. Jola Gore-Booth, Executive Director comments: “ We want to make people aware that they can have control over their own life. Many people are still hesitant to test themselves, yet it’s clear that everybody older than 50 should get screened. The effort is minor, and there are no downsides to it. The testing is easy, as is colonoscopy. There is really no reason to risk one’s life by not participating in screening programmes. Still too many people wait. That’s why our campaign is so important.”
The White Paper highlights the fact that despite the commitment from all EU Ministers of Health in 2003, only three Member States (France, Ireland and Slovenia) have organized Formal Population-based Colorectal cancer screening programmes addressed to all citizens between 50 and 74 years old. The best outcomes were achieved in the Netherlands (citizens older than 55), Slovenia and the Basque country:

• Increase in early detection from 15% to 48% of the population
• Decrease in colorectal cancer mortality
• Overall cost saving in the healthcare system

If all Member States achieved the same results, the number of citizens detected with early-stage cancer could be improved from 55,000 to 185,000, and therefore significantly increasing chances of survival. Every year. Stefan Gijssels, Executive Director comments: “ There is no rational reason not to organize formal national screening campaigns. It saves lives and money. The major barrier we see is a political one. It takes a lot of effort and time to organize, and screening campaigns require a sustained effort. The financial savings in the healthcare budget may only be visible ten years after the start, but the upside in the number of lives saved should justify screening. As we have seen, the quality of the screening programme is critical to its success. Luckily, several Member States are starting now to have a more professional approach to screening. We can assist them if needed.”
Digestive Cancers Europe represents 40 National Associations in 30 European countries and is active in the areas of esophageal, gastric, pancreatic, colon, rectum and rare cancers of the digestive tract. The Organization collaborates with Pancreatic Cancer Europe.
European Colorectal Cancer Awareness Month was established in 2008 as an Annual Awareness Raising initiative by EuropaColon, which  has now expanded to become Digestive Cancers Europe (DiCE). The Organization will give a voice to people living with all types of digestive cancer (including colorectal cancer, gastric cancer, esophageal cancer, pancreatic cancer and rare gastrointestinal cancers).
All the materials of the campaign are available on www.mybest10seconds.com

Mathilde came into the world with chubby cheeks and a full head of auburn hair. But she was a very sick baby, and was immediately transferred on January 19, 2013 to the Neonatal Intensive Care Unit at the Montreal Children’s Hospital of the McGill University Health Centre (MCH-MUHC). By the time she arrived, she was sicker than initially expected; Mathilde’s small head was of particular concern to doctors. She underwent neurological tests, and sadly, they came back abnormal: her brain hadn’t developed properly and her brain white matter (or myelin) was found to be atypical. Doctors confirmed she was suffering from an unidentified kind of genetic leukoencephalopathy, a family of diseases affecting both the nerve cells and the white matter. Mathilde passed away when she was two-and-a-half months old, surrounded by the people who loved her most.
Thanks to an international effort led by physician-scientists at Rady Children’s Institute for Genomic Medicine (RCIGM)-San Diego in California, Dr. Geneviève Bernard’s team at the Research Institute of the McGill University Health Centre (RI-MUHC) was able to confirm the diagnosis for Mathilde: she died from VARS-related disorder, an extremely rare neurodevelopmental condition. Their findings are paving the way for the first step in developing potential therapies for this rare neurodegenerative condition.
Investigators performed advanced genetic tests on blood samples from seven children with neuro-developmental disabilities who were evaluated by doctors in San Diego, Montreal and Cairo. This led to the discovery of mutations in the VARS gene, which had not previously been linked to human disease.
“These children showed epileptic seizures and abnormalities evident on brain MRI scans,” said lead study’s author Joseph Gleeson, MD, director of neurodevelopmental genetics at RCIGM and professor of neuroscience and pediatrics at UC San Diego School of Medicine. “Although no treatment currently exists for this condition, the results are important as the first step in guiding research directed at targeted therapies.”
The genetic mutations identified in the study led to a defect in the enzyme responsible for generating proteins containing the amino acid valine, which is necessary for cellular health. Genetic variations that damage these types of enzymes are associated with a variety of human diseases including microcephaly and neuropathy.
In this study, the team found that enzymatic activity was significantly reduced in cells from their young patients. The findings suggest that children with this disorder may benefit from treatments to support the synthesis of new valine-containing proteins in the brain.

McGill University Health Centrehttps://tinyurl.com/yxjg3dp5

Some variations in the gene LPHN3 –associated with the attention deficit / hyperactivity disorder (ADHD) in kids and adults- could favour likelihood to smoke, consume alcohol, cannabis and other addictive substances, according to an article.
The findings are based on the study of around 2,700 patients –children, adolescents and adults- from the United States, Colombia and Spain, and it will contribute to provide new genetic tools to improve prevention of addictive behaviours in people with ADHD.
ADHD is one of the most commons disorders in childhood and adolescence –it can linger until adulthood- and its traits are hyperactivity, impulsiveness, and attention deficit. One of the genes related to ADHD susceptibility is LPHN3, which codes the protein latrophilin 3, “a molecule related to the formation of synaptic connections between certain types of neurons, and therefore, a good candidate to set a relation with any psychiatric disorder”, notes the lecturer Bru Cormand, head of the Research Group on Neurogenetics of the Faculty of Biology of the UB.
The connection between LPHN3 and ADHD is one of the most studied regarding the etiology of the disorder. This gene, in addition, has an impact on the patients’ response to the medication, the degree of severity of the disease and disruptive behaviour. However, so far, the depth of the relation between the gene LPHN3 and substance addiction had not been explored.
In the new study, the experts applied an innovative statistical method (Recursive-partitioning Frameworks) which integrates clinical, demographic and genetic information on a specific disorder –in this case, ADHD- to predict another co-morbid disorder (which appears concurringly), such as addiction to tobacco, alcohol, cocaine, cannabis and marijuana, among others.
Conclusions note that, within the group of Spanish patients with ADHD, a specific variation of the LPHN3 gene increases by 40 % the risk of nicotine dependence. According to the experts, results are similar in the cases for alcohol and illegal drugs, which have been studied together in the research.
Not all those affected by ADHD show behaviours with an addictive profile over their lives. “We now know genetics play an important role in these behaviours. This helps us to prevent future risks in kids and adults with ADHD and to improve prevention strategies. However, ADHD genetics are diverse, there are many involved genes and these vary among the patients with the disorder”, notes Cormand.
75 % of ADHD has a genetic base and the remaining 25 % is related to environmental factors which can vary, according to the experts. Therefore, external factors can be relevant in the appearance of addictive behaviours in people with ADHD. For example, certain lifestyles or social interactions can play an important role.
“Also, cocaine and other addictive substances –warns Cormand- have a psychostimulant action similar to the one in the main pharmacological treatment for ADHD. This would explain why, in some cases, these are used by the affected people as self-medication for its apparently ‘beneficial’ effects”.
Psychological and pharmacological treatment and psychopedagogical intervention are the combined strategies that are most efficient in ADHD treatment. In the future, we will need new clinical studies to analyse the importance of genetics in ADHD susceptibility and addictive behaviours that can affect the patient’s health.

University of Barcelonahttps://tinyurl.com/y5qzsvv6

Nova Biomedical has been awarded a multi-year group purchasing agreement for critical care blood gas analysers from Premier. This agreement provides Premier members access to Nova’s new Stat Profile Prime Plus® critical care blood gas analyser. Prime Plus features maintenance-free sensor technology to provide 20 essential critical care tests including BUN, creatinine, ionized magnesium, blood gases, electrolytes, metabolites, hematology, and co-oximetry. Prime Plus also provides new and patented, non-lysing whole blood co-oximetry technology, along with automated quality control (QC), powerful data management, bidirectional connectivity, and extensive cybersecurity protection. The current agreement allows Premier members, at their discretion, to take advantage of special, pre-negotiated pricing and terms for Prime Plus analysers and consumables in addition to Nova’s 10-test Prime analysers.
“We are pleased that Premier has awarded a group purchasing agreement to our innovative, maintenance-free Prime Plus,” said John Britt, Director of Corporate Accounts for Nova. “This agreement allows Premier members access to the entire Stat Profile Prime platform including its new flagship analyser, Prime Plus. Prime Plus introduces innovative technology that expands critical care testing with unique assays and eliminates sensor and co-oximeter maintenance, all of which improves uptime and reliability while reducing costs. Prime Plus represents the latest in critical care testing technology and further demonstrates Nova’s leadership and history of innovation.”
Prime Plus incorporates Nova’s innovative, maintenance-free sensor technology with individual MicroSensor cards, calibrator cartridges, and quality control cartridges. This design eliminates sensor and co-oximeter maintenance, improves analyser uptime, and reduces testing costs for the compact and easy-to-use Prime Plus.
Premier is a leading healthcare improvement company, uniting an alliance of approximately 4,000 U.S. hospitals and 165,000 other providers.
www.novabiomedical.com

Scientists have discovered a new gene variation that causes motor neurone disease (MND) in a novel biological pathway that until now hasn’t been linked with neurodegeneration.
The findings for the pioneering study, conducted by a team of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Centre (BRC), could potentially help to identify completely new ways of treating MND which currently affects over 5,000 people in the UK.
MND, also known as Amyotrophic Lateral Sclerosis (ALS), is a devastating neurodegenerative disorder that affects the nerves – motor neurones – that form the connection between the brain and the muscles. The messages from these nerves gradually stop reaching the muscles, causing them to weaken, stiffen and eventually waste. The progressive disease affects a person’s ability to walk, talk, eat and breathe. Approximately 10 per cent of MND cases are inherited but the remaining 90 per cent are caused by complex genetic and environmental interactions which are not well understood – this is known as sporadic MND. There is currently no curative therapy.

Dr Johnathan Cooper-Knock, NIHR Clinical Lecturer at the University of Sheffield’s Institute for Translational Neuroscience (SITraN), explained the impact of the ground-breaking research which is helping scientists to understand the fundamental genetic basis of MND.
“This new gene does not fit into a biological function that we already know is associated with MND,” said Dr Cooper-Knock.
“That means that this finding has potential to identify completely new ways of treating MND.
“The mutations found in patients were shown to be toxic to neurons and, when expressed in zebrafish they produced muscle weakness consistent with MND. This work strongly suggests that the mutations are the cause of MND in the patients where they were identified.”
During the study, researchers genetically sequenced tissue from two related patients with an unknown familial form of MND and found a mutation in the substrate binding region of a glycosyltransferase enzyme called GLT8D1. They went on to screen a larger sample of 103 patients, five of whom had this mutation. The study revealed a new genetic subtype of MND.

University of Sheffieldhttps://tinyurl.com/y4bwpra4