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  • richardmitnick 8:51 am on February 19, 2018 Permalink | Reply
    Tags: , , Blood and urine tests developed to indicate autism in children, Medicine,   

    From U Warwick: “Blood and urine tests developed to indicate autism in children” 

    U Warwick bloc

    University of Warwick

    19 February 2018

    1
    Credit: CC0 Public Domain

    New tests which can indicate autism in children have been developed by researchers at the University of Warwick.

    The academic team who conducted the international research believe that their new blood and urine tests which search for damage to proteins are the first of their kind.

    The tests could lead to earlier detection of autism spectrum disorders (ASD) and consequently children with autism could be given appropriate treatment much earlier in their lives. ASDs are defined as developmental disorders mainly affecting social interaction and they can include a wide spectrum of behavioural problems. These include speech disturbances, repetitive and/or compulsive behaviour, hyperactivity, anxiety, and difficulty to adapt to new environments, some with or without cognitive impairment. Since there is a wide range of ASD symptoms diagnosis can be difficult and uncertain, particularly at the early stages of development.

    The paper Advanced glycation endproducts, dityrosine, and arginine transporter dysfunction in autism—a source of biomarkers for clinical diagnosis has been published in Molecular Autism. The team was led by Dr Naila Rabbani, Reader of Experimental Systems Biology at the University of Warwick who said: “Our discovery could lead to earlier diagnosis and intervention.”

    “We hope the tests will also reveal new causative factors. With further testing we may reveal specific plasma and urinary profiles or “fingerprints” of compounds with damaging modifications. This may help us improve the diagnosis of ASD and point the way to new causes of ASD.”

    The team which is based at the University’s Warwick Medical School involves academics at the University of Warwick’s Warwick Systems Biology group, the University of Birmingham, the University of Bologna, the Institute of Neurological Sciences, Bologna, and the Don Carlo Gnocchi Foundation ONLUS. They found a link between ASD and damage to proteins in blood plasma by oxidation and glycation – processes where reactive oxygen species (ROS) and sugar molecules spontaneously modify proteins. They found the most reliable of the tests they developed was examining protein in blood plasma where, when tested, children with ASD were found to have higher levels of the oxidation marker dityrosine (DT) and certain sugar-modified compounds called “advanced glycation endproducts” (AGEs). Genetic causes have been found in 30–35% of cases of ASD and the remaining 65–70% of cases are thought to be caused by a combination of environmental factors, multiple mutations, and rare genetic variants. However the research team also believe that the new tests could reveal yet to be identified causes of ASD.

    The team’s research also confirmed the previously held belief that mutations of amino acid transporters are a genetic variant associated with ASD. The Warwick team worked with collaborators at the University of Bologna, Italy, who recruited locally 38 children who were diagnosed as having with ASD (29 boys and nine girls) and a control group of 31 children (23 boys and eight girls) between the ages of five and 12. Blood and urine samples were taken from the children for analysis.

    The University of Warwick team discovered that there were chemical differences between the two groups. Working with a further collaborator at the University of Birmingham, the changes in multiple compounds were combined together using artificial intelligence algorithms techniques to develop a mathematical equation or “algorithm” to distinguish between ASD and controls. The outcome was a diagnostic test better than any method currently available.

    The next steps are to repeat the study with further groups of children to confirm the good diagnostic performance and to assess if the test can identify ASD at very early stages assess if treatments are working.

    Authors:

    Attia Anwar, Warwick Medical School, University of Warwick Provvidenza Maria Abruzzo, Department of Experimental, Diagnostic and Specialty Medicine, School of Medicine, University of Bologna; Don Carlo Gnocchi Foundation ONLUS, IRCCS “S. Maria Nascente”, Milan Sabah Pasha, Warwick Medical School, University of Warwick Kashif Rajpoot, Department of Computer Science, University of Birmingham, Alessandra Bolotta, Department of Experimental, Diagnostic and Specialty Medicine, School of Medicine, University of Bologna; Don Carlo Gnocchi Foundation ONLUS, IRCCS “S. Maria Nascente”, Milan; Warwick Systems Biology, University of Warwick, Clinical Sciences Research Laboratories, University Hospital, Coventry Alessandro Ghezzo, Department of Experimental, Diagnostic and Specialty Medicine, School of Medicine, University of Bologna, Marina Marini, Department of Experimental, Diagnostic and Specialty Medicine, School of Medicine, University of Bologna; Don Carlo Gnocchi Foundation ONLUS, IRCCS “S. Maria Nascente”, Milan, Annio Posar, Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna Paola Visconti Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna Paul J. Thornalley, Warwick Medical School, University of Warwick; Warwick Systems Biology, University of Warwick, Clinical Sciences Research Laboratories, University Hospital, Coventry Naila Rabbani, Warwick Medical School, University of Warwick; Warwick Systems Biology, University of Warwick, Clinical Sciences Research Laboratories, University Hospital, Coventry; Research Technology Platform–Proteomics, University of Warwick; AGEomics and Systems Biology Research Group, Warwick Systems Biology, University of Warwick, University Hospital, Coventry

    This work received the following funding: Naila Rabbani – Warwick Impact Fund; Marina Marini – Fondazione del Monte di Bologna e Ravenna, Italy; Fondazione Nando Peretti, Rome, Italy

    See the full article here .

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    U Warwick Campus

    We’re a world-leading university with the highest academic and research standards. But we’re not letting the story end there.

    That’s because we’re a place of possibility. We’re always looking for new ways to make things happen. Whether you’re a dedicated student, an innovative lecturer or an ambitious company, Warwick provides a tireless yet supportive environment in which you can make an impact.

    And our students, alumni and staff are consistently making an impact – the kind that changes lives, whether close to home or on a global scale.

    It’s the achievements of our people that help explain why our levels of research excellence and scholarship are recognised internationally.

    It’s a prime attraction for some of the biggest names in worldwide business and industry.

    It’s why we’re ranked highly in the lists of great UK and world universities.

    All of this contributes to a compelling story, one that’s little more than 50 years old. But who said youth should hold you back from changing the world?

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  • richardmitnick 9:27 pm on February 15, 2018 Permalink | Reply
    Tags: , , Medicine, Red Wine Proves Good for the Heart (Again)   

    From Louisiana State University: “Red Wine Proves Good for the Heart (Again)” 

    Louisiana State University

    1
    LSU School of Veterinary Medicine’s Tammy Dugas.

    02/01/2018

    Contact Alison Satake
    LSU Media Relations
    225-578-3870
    asatake@lsu.edu

    Julie Thomas
    LSU School of Veterinary Medicine
    Louisiana State University
    225-578-0110
    jtho279@lsu.edu

    LSU professor develops advanced heart disease treatment from red wine.

    An LSU professor is harnessing antioxidant compounds found in red wine to advance the treatment of heart disease — the leading cause of death for both men and women in the U.S.

    Heart disease occurs when plaque builds up within artery walls blocking the blood flow through tissues in the body, increasing the risk of a heart attack or stroke. About 630,000 people die each year from heart disease, according to the Centers for Disease Control and Prevention.

    While there is no singular cure for heart disease, there are numerous forms of treatment including lifestyle changes and surgical procedures. In one procedure called a coronary angioplasty, a surgeon inserts and inflates a tiny balloon inside a blocked or narrow artery to widen it and allow blood to flow through to the heart thereby decreasing the risk of a heart attack or stroke. This procedure often includes inserting a permanent small mesh tube to support the blood vessel called a stent.

    Commercial stents can release chemotherapy agents that are toxic and can cause the blood vessel to narrow again. LSU Department of Comparative Biomedical Sciences Professor Tammy Dugas is developing a new stent that releases red wine antioxidants slowly over time that promotes healing and prevents blood clotting and inflammation. The two antioxidant compounds are resveratrol and quercetin.

    “By delivering red wine antioxidants during conventional angioplasty, it may be possible to prevent excess tissue from building up and the blood vessel from narrowing again as it heals,” Dr. Dugas said.

    In addition to the stent, Dugas and colleagues are developing a balloon coated with the same compounds to treat blood flow blockages throughout the body called peripheral artery disease. This disease which can limit the blood flow to kidneys, the stomach, arms or legs affects about 8 to 12 million Americans. However, less than 20 percent are diagnosed by a physician. Drug-coated balloons are a relatively new product, and are being developed to help interventional cardiologists treat arteries that are difficult to target with traditional angioplasty and stent treatments.

    See the full article here .

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    Louisiana State University (officially Louisiana State University and Agricultural and Mechanical College, commonly referred to as LSU) is a public coeducational university located in Baton Rouge, Louisiana. The university was founded in 1853 in what is now known as Pineville, Louisiana, under the name Louisiana State Seminary of Learning & Military Academy. The current LSU main campus was dedicated in 1926, consists of more than 250 buildings constructed in the style of Italian Renaissance architect Andrea Palladio, and occupies a 650-acre (2.6 km²) plateau on the banks of the Mississippi River.

    LSU is the flagship institution of the Louisiana State University System. In 2017, the university enrolled over 25,000 undergraduate and over 5,000 graduate students in 14 schools and colleges. Several of LSU’s graduate schools, such as the E.J. Ourso College of Business and the Paul M. Hebert Law Center, have received national recognition in their respective fields of study. Designated as a land-grant, sea-grant and space-grant institution, LSU is also noted for its extensive research facilities, operating some 800 sponsored research projects funded by agencies such as the National Institutes of Health, the National Science Foundation, the National Endowment for the Humanities, and the National Aeronautics and Space Administration.

    LSU’s athletics department fields teams in 21 varsity sports (9 men’s, 12 women’s), and is a member of the NCAA (National Collegiate Athletic Association) and the SEC (Southeastern Conference). The university is represented by its mascot, Mike the Tiger.

     
  • richardmitnick 11:28 am on February 8, 2018 Permalink | Reply
    Tags: , , Medicine,   

    From Science Alert: “This New Autism Genetics Study Could Help Explain Why It’s Such a Huge Spectrum” 

    ScienceAlert

    Science Alert

    8 FEB 2018
    MIKE MCRAE

    1
    (Olesia Bilkei/Shutterstock)

    Genes responsible for a number of autism’s characteristics come in two varieties, which could help explain not only the condition’s diversity, but also how it’s inherited.

    A new study on the genetics behind the disorder has revealed the kinds of mutations associated with lower IQ are also linked with impeded motor skills.

    What’s more, the severity of these mutations might also explain why many aspects of autism spectrum disorder (ASD) are more pronounced in some than in others.

    In most cases, a diagnosis for ASD is based on a mix of social and physical behaviours, including difficulties in communicating and sensory processing, repetitive movements, and impeded motor functions.

    “Diminished motor skills appear to be an almost universal property of children with autism,” says molecular geneticist Michael Wigler from Cold Spring Harbor Laboratory.

    Yet there are also traits that commonly coincide with an ASD diagnosis, without necessarily being considered as a defining part of the condition.

    For example, intellectual and learning disabilities can affect a significant proportion of individuals with ASD, with just under half of those with a diagnosis also having an IQ lower than 70.

    But it’s still something of a mystery as to what really gives rise to this rich spectrum of characteristics.

    There are strong implications that a number of genes are involved, and that numerous epigenetic changes can be responsible for switching them on and off.

    Many of these genetic changes are known to be inherited, but past research has linked so-called de novo mutations – coding differences that aren’t found in the parents – with learning difficulties among those with ASD.

    Another recent study [AJHG] also concluded that de novo mutations happening after fertilisation could account for as much as 2 percent of all autism diagnoses.

    Researchers have now used a database consisting of over 2,700 families who had only one child affected by ASD to discover that de novo mutations in key genes can also accurately predict the presence and severity of reduced motor skills.

    The same link wasn’t found for other components of ASD, such as social skills and challenges in communication, meaning the genes for those autism traits are more likely to be passed on from the parents.

    The discovery adds much needed detail to what is an incredibly complex condition, and could even help explain how it persists in our population.

    One possibility is that some of the more challenging aspects of ASD could be offset by having a higher intelligence.

    There is already speculation that there is a strong interplay between IQ and autism’s core characteristics – where social skills make it difficult for researchers to accurately predict cognitive abilities.

    By the same token, the researchers suggest having strong cognitive and motor skills could in turn affect how other autism behaviours are expressed.

    The end result could mean we’re more likely to pass on genes that impact on social and communication skills so long as they’re not accompanied by genes that also affect IQ or interfere with movements.

    In other words, those genes giving rise to learning difficulties or affecting motor control are more likely to occur through de-novo mutations rather than inheritance.

    On a more practical level, the research has implications for studying the inheritance of ASD, as well as diagnosing the disorder.

    The scientists suggest a new way to classify ASD based on its genetic foundations – mild, with little impairment of either motor skills or IQ, moderate impairment mainly to motor skills, and severe impairment, affecting both.

    They also emphasise the importance of evaluating IQ and motor skills when forming a diagnosis and designing therapies.

    “As such, objective assessment of cognitive function should be a facet of any clinical evaluation of the patient,” says Wigler.

    This research was published in the Proceedings of the National Academy of Sciences.

    See the full article here .

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  • richardmitnick 11:01 am on February 5, 2018 Permalink | Reply
    Tags: , , Autism Might Be Better Detected Using New Two-Minute Questionnaire, Medicine,   

    From Rutgers: “Autism Might Be Better Detected Using New Two-Minute Questionnaire” 

    Rutgers University
    Rutgers University

    February 5, 2018

    Robin Lally
    848-932-0557
    robin.lally@rutgers.edu

    1
    Rutgers New Jersey Medical School developed a brief questionnaire they believe will help detect autism spectrum disorder at a younger age when treatment is crucial. No image credit.

    Researchers at Rutgers New Jersey Medical School have developed a two-minute questionnaire for parents that could help pediatricians and other primary care providers detect autism in toddlers, at a time when intervention might be crucial.

    In the new study, published in the Journal of Developmental and Behavioral Pediatrics ,lead investigator Walter Zahorodny, associate professor of pediatrics, said the Psychological Development Questionnaire (PDQ-1), developed at Rutgers, had an 88 percent likelihood of correctly identifying which of the youngsters that screened positive because of the questionnaire had autism spectrum disorder (ASD).

    The 1,959 18- to 36-month-old children who participated in the study received screening through a network of cooperating pediatric practices in Essex and Union counties and were not known to have any developmental problems.

    Those who got low PDQ-1 scores were considered to be at risk of ASD and received comprehensive developmental evaluations to determine whether they were on the spectrum. The new screening test correctly identified autism in children from all socioeconomic communities.

    “Even though autism awareness is high in New Jersey and we have some excellent resources, too many children, especially from low-income communities, are identified late. The availability of valid and efficient screeners, like the PDQ-1, may enhance our ability to detect ASD in young children and expand the number of youngsters receiving early intervention,” Zahorodny said.

    Some of the PDQ-1 questions posed to parents include whether the child points or gestures to show interest or get attention, responds to their name, enjoys playing peek-a-boo, speaks in phrases and relates to others.

    Zahorodny, a psychologist, said the findings provide preliminary evidence in support of the PDQ-1. The new tools, he said, may provide a practical alternative to the Modified Checklist for Autism in Toddlers and the follow-up (M-CHAT-R/F) which requires a telephone interview in addition to screening.

    While the early detection of ASD is challenging, and no single behavioral or observational approach is likely to be reliable for all children, the Rutgers researchers believe their new screening method is promising and deserves wider application and study.

    “Diagnosis of autism can only be accomplished through comprehensive evaluation by a professional,” Zahorodny said. “Effective screening is but the first step toward diagnosis. If we want to improve early detection, easy-to-use and reliable autism screeners need to be widely used.”

    According to the U.S. Centers for Disease Control and Prevention one in 68 children have ASD. Autism occurs in all racial, ethnic and socioeconomic groups, but is 3 to 4 times more common in boys. Though the American Academy of Pediatricians has urged pediatricians to screen all children for ASD at 18 and 24 months, since 2007, it is estimated that only half of all children are screened at that age.

    See the full article here .

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    rutgers-campus

    Rutgers, The State University of New Jersey, is a leading national research university and the state’s preeminent, comprehensive public institution of higher education. Rutgers is dedicated to teaching that meets the highest standards of excellence; to conducting research that breaks new ground; and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

    Founded in 1766, Rutgers teaches across the full educational spectrum: preschool to precollege; undergraduate to graduate; postdoctoral fellowships to residencies; and continuing education for professional and personal advancement.

    Rutgers smaller
    Please give us back our original beautiful seal which the University stole away from us.
    As a ’67 graduate of University college, second in my class, I am proud to be a member of

    Alpha Sigma Lamda, National Honor Society of non-tradional students.

     
  • richardmitnick 7:44 am on February 2, 2018 Permalink | Reply
    Tags: , Black Men in White Coats, Medicine,   

    From UCLA Newsroom: “A dose of inspiration – ‘Black Men in White Coats’ – is just what the doctor ordered” 


    UCLA Newsroom

    February 01, 2018
    Tami Dennis

    Media Contact

    Tami Dennis
    310-267-7007
    tdennis@mednet.ucla.edu

    David Geffen School of Medicine at UCLA joins campaign to inspire underrepresented minority students to become physicians.

    1
    “We need physicians who come from these various communities because we’re the ones who are going to go back and practice in those communities,” says Dr. Stanley Frencher.

    The nation’s medical schools have too few black male medical students. That’s the cold, hard reality according to the Association of American Medical Colleges, which found that the number of black men enrolled in U.S. medical schools declined from 1978 to 2014 — from 542 to just 515.

    Now, the David Geffen School of Medicine at UCLA and a handful of other medical schools are aiming to change that dismal reality with an unprecedented video outreach campaign.

    “We have a responsibility as a medical school to welcome the best and brightest young people from an array of ethnicities and social backgrounds to consider a career in medicine,” said Dr. Lynn Gordon, senior associate dean for diversity affairs at the Geffen School of Medicine. “To do that, we first must make them aware of the possibilities.”

    Enter “Black Men in White Coats.”

    With video profiles of young black doctors, the campaign aims to inspire underrepresented minority students to consider becoming physicians. The UCLA videos will be prominently placed on the school’s website, disseminated via social media and shared by the medical school’s community engagement groups, as well as other outreach groups affiliated with the school.

    The project is focused on black men because the total of black men enrolled in U.S. medical schools has actually fallen over the years, according to the 2015 AAMC report, Altering the Course, Black Males in Medicine (PDF). Further, among ethnic groups, the proportion of male-to-female medical school applicants is lowest for African-Americans.

    The AAMC report not only included data about the dwindling numbers of black male medical students, it cited likely reasons for the decline — among them, a lack of role models and negative portrayals of young black men in the media.

    “Black Men in White Coats is intended to awaken young people to the possibility of a career that many have never considered and to give them the confidence to pursue that career,” said Dr. Dale Okorodudu, the campaign’s founder. “We hope the videos will inspire other young people of color to pursue similar opportunities and goals. Ultimately, all of medical care — and the people for whom we care — will benefit.”

    The initiative began in 2013, with the Geffen School of Medicine as the fifth school to participate — and the first on the West Coast. Reaction to the campaign’s earlier videos on Facebook and from current Geffen School of Medicine students so far has been positive. And small wonder. The videos themselves are sophisticated, well-told stories about passionate men trying to make the world a better place.

    The two participating UCLA physicians exemplify a commitment to medicine, to other young black men and to their communities.

    In one of the videos, Dr. Olawale Amubieya (video), who completed his internal medicine training at UCLA and is a fellow in the department of pulmonary and critical care medicine at Ronald Reagan UCLA Medical Center, speaks about the support network awaiting prospective medical school applicants.

    “For a young person of color who is thinking about medicine and has no people in their community who are doing it, no resources — no matter where you came from, this is a real possibility,” Amubieya says in the video. “There are people all over the country just like me who are itching to help you. We want you doing what we’re doing so that you can help the next person who looks like you do it too.”

    In another video, Dr. Stanley Frencher (video), an assistant professor-in-residence at the Geffen School of Medicine and the director of surgical outcomes and quality for Martin Luther King Jr. Community Hospital, relates a common refrain he hears from patients.

    “I can’t tell you the number of times that I take care of a patient here in the clinic who are like, ‘I’m really glad to see brothers like you as doctors here in this hospital,’” he says.

    He prefaces his comment with a simple observation: “We need physicians who come from these various communities because we’re the ones who are going to go back and practice in those communities.”

    But the videos are not an isolated effort. The Geffen School of Medicine has a number of other initiatives in place aimed at increasing minority enrollment — including working with community groups to spread a message of inclusiveness and opportunity, and encouraging school groups that advocate for awareness and health access. The school also is committed to a Faculty Diversity Strategic Plan that it developed to ensure that it recruits and nurtures faculty from diverse backgrounds.

    “Our diversity plan is part of a larger medical school effort to serve our entire community,” Gordon said. “We have a commitment to improve the health of diverse populations and to do that, we need a diverse workforce. That community connection makes our emphasis on diversity so impactful.”

    Impact is what the Black Men in White Coat videos are all about. By sharing the videos and their messages of inspiration, confidence and passion, the school’s leaders and the campaign’s organizers are confident they’ll help shape a new narrative for young black men in America.

    The videos are being released during Black History Month, which both honors the past and instills hope for the future.

    “I feel like there are so few African-American males in medicine because we just don’t see ourselves,” Amubieya says in his video. “If you don’t see your dream, it’s hard for you to imagine. There’s a lot of work to do before we change the norm. Every new black male doctor brings us closer to changing the norm.”

    See the full article here .

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    UC LA Campus

    For nearly 100 years, UCLA has been a pioneer, persevering through impossibility, turning the futile into the attainable.

    We doubt the critics, reject the status quo and see opportunity in dissatisfaction. Our campus, faculty and students are driven by optimism. It is not naïve; it is essential. And it has fueled every accomplishment, allowing us to redefine what’s possible, time after time.

    This can-do perspective has brought us 12 Nobel Prizes, 12 Rhodes Scholarships, more NCAA titles than any university and more Olympic medals than most nations. Our faculty and alumni helped create the Internet and pioneered reverse osmosis. And more than 100 companies have been created based on technology developed at UCLA.

     
  • richardmitnick 9:24 am on February 1, 2018 Permalink | Reply
    Tags: , , , Medicine   

    From CSIROscope: “Bloody data: biostatistics and the first blood test for Alzheimer’s” 

    CSIRO bloc

    CSIROscope

    1 February 2018
    Sian Stringer

    1
    No image caption or credit.

    Imagine, for a moment, that you’re a scientist (unless you already are a scientist, in which case, you’re awesome).

    Imagine you’ve been working to develop a promising treatment to prevent or slow down a debilitating disease that affects millions of people around the world every year. You need to recruit people to trial the treatment, but you specifically need people in the early stages of the disease, or who are likely to develop the disease later in life.

    Until now, the most accurate tool available to predict if someone might develop that disease is a PET scan, which in Australia costs about $2000 a pop. You’d need to scan 10,000 people just to find approximately 3,000 who might develop that disease.

    Ten thousand people at $2000 each…

    You can hear your limited budget let out a pitiful whimper as it evaporates before your trial can even begin.

    This is the challenge faced by researchers working to find treatments for Alzheimer’s – the most common type of dementia, which is the second-leading cause of death in Australia. Finding a treatment is urgent but the barriers for clinical trials are huge, hindering progress.

    But in amazing news, an international team of scientists have just completed the first step in developing a blood test that can predict whether a person has an increased likelihood of developing Alzheimer’s – working up to 20 years before symptoms develop.

    And two of our own scientists helped validate the test… with the power of imaging and biostatistics.

    They’re making a test, and checking it twice

    The international team – Japanese experts, including from the National Center for Geriatrics and Gerontology, Obu and the Koichi Tanaka Mass Spectrometry Research Laboratory at Shimadzu Corporation, along with experts from the Florey Institute of Neuroscience in Melbourne – found biomarkers in the blood that can predict amyloid deposits in a person’s brain. You can read more on the science behind this in their paper, freshly published in one of the world’s most esteemed academic journals, Nature.

    As with all scientific developments, it’s not enough to do some tests, get results and call it a day – you need peers to review your work for accuracy. That’s where our scientists were brought in, via our Australian e-Health Research Centre (AEHRC), the Australian Imaging Biomarkers and Lifestyle (AIBL) study, and the CRC for Mental Health.

    Vincent Doré, a research scientist with a PhD in image processing, was brought on board for important work analysing images of the Alzheimer’s biomarkers in the brain.

    Meanwhile biostatistician James Doecke, part of our AEHRC Biomedical Informatics group, was given the critical task of analysing the team’s work and validating their results.

    But what is biostatistics, and what does that work look like?

    Biostatistics: bringing us closer to the future

    In a nutshell, biostatistics is the use of statistics – often looking at enormous amounts of data – to interpret and answer biological questions. These can be huge, game-changing questions, like: can we find genetic markers that lead to early treatment options for sufferers of a certain disease?

    Or in this case: can we identify people with an increased likelihood of Alzheimer’s disease before they develop symptoms?

    “Researchers look at diseases, collect data and ask questions – and it’s my job to answer them using their data,” James says.

    To do that, James uses his background in health science, statistical genetics and molecular biology to understand researchers’ questions and interpret their results.

    “I use computer programs with complex mathematical algorithms, and depending on the questions researchers want answered, I write code to tell the computer what to do with the data. Then it processes the data and gives me results. I then interpret those results and report back to the researchers.”

    With this specialised skillset, James was able to validate the team’s Alzheimer’s biomarker results.

    While biostatistics is necessarily focussed on the details, in the big picture James’ and Vincent’s work helped bring the very first blood test for Alzheimer’s disease one step closer to reality.

    Where’s the test?

    Right now, the test isn’t very portable – it has to be run through a fully equipped, high-tech lab. A lot more work is needed before the test can be used widely, including longitudinal studies.

    But it’s an exciting step forward, and may translate into more efficient trials for treatment and prevention in coming years. Watch this space!

    See the full article here .

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    SKA/ASKAP radio telescope at the Murchison Radio-astronomy Observatory (MRO) in Mid West region of Western Australia

    So what can we expect these new radio projects to discover? We have no idea, but history tells us that they are almost certain to deliver some major surprises.

    Making these new discoveries may not be so simple. Gone are the days when astronomers could just notice something odd as they browse their tables and graphs.

    Nowadays, astronomers are more likely to be distilling their answers from carefully-posed queries to databases containing petabytes of data. Human brains are just not up to the job of making unexpected discoveries in these circumstances, and instead we will need to develop “learning machines” to help us discover the unexpected.

    With the right tools and careful insight, who knows what we might find.

    CSIRO campus

    CSIRO, the Commonwealth Scientific and Industrial Research Organisation, is Australia’s national science agency and one of the largest and most diverse research agencies in the world.

     
  • richardmitnick 9:09 am on January 31, 2018 Permalink | Reply
    Tags: , , Epileptic Seizures and Depression May Share a Common Genetic Cause Study Suggests, Focal epilepsy, Medicine,   

    From Rutgers: “Epileptic Seizures and Depression May Share a Common Genetic Cause, Study Suggests” 

    Rutgers University
    Rutgers University

    January 31, 2018
    Todd B. Bates

    1
    In people with epilepsy, partial seizures are also known as focal seizures. While focal seizures start in one part of the brain, generalized seizures start in both sides of the brain. Image: National Institutes of Health.

    Rutgers and Columbia scientists assessed family histories of epilepsy and depression to find a possible genetic relationship.

    From the time of Hippocrates, physicians have suspected a link between epilepsy and depression. Now, for the first time, scientists at Rutgers University–New Brunswick and Columbia University have found evidence that seizures and mood disorders such as depression may share the same genetic cause in some people with epilepsy, which may lead to better screening and treatment to improve patients’ quality of life.

    The scientists studied dozens of unusual families with multiple relatives who had epilepsy, and compared the family members’ lifetime prevalence of mood disorders with that of the U.S. population.

    They found an increased incidence of mood disorders in persons who suffer from a type of the condition called focal epilepsy, in which seizures begin in just one part of the brain. But mood disorders were not increased in people with generalized epilepsy, in which seizures start on both sides of the brain.

    “Mood disorders such as depression are under-recognized and undertreated in people with epilepsy,” said Gary A. Heiman, the study’s senior author and associate professor in the Department of Genetics at Rutgers–New Brunswick. “Clinicians need to screen for mood disorders in people with epilepsy, particularly focal epilepsy, and clinicians should treat the depression in addition to the epilepsy. That will improve patients’ quality of life.”

    The results of the study – published online today in the journal Epilepsia – support the hypothesis that people with focal epilepsy, but not generalized epilepsy, are susceptible to mood disorders such as depression.

    “More research is needed to identify specific genes that raise risk for both epilepsy and mood disorders,” said Heiman, who works in the School of Arts and Sciences. “It’s important to understand the relationship between the two different disorders.”

    A relationship between epilepsy and mood disorders has been suspected for millennia, Heiman noted. Hippocrates, “the father of medicine,” wrote about it around 400 BC: “Melancholics ordinarily become epileptics, and epileptics, melancholics: what determines the preference is the direction the malady takes; if it bears upon the body, epilepsy, if upon the intelligence, melancholy.”

    Seizures in most people with epilepsy can be controlled by drugs and surgery. The fact remains, however, that epilepsy and mood disorders such as depression affect quality of life and increase disability and health care costs. Depression raises the risk for suicidal thoughts and attempts. Moreover, previous studies have shown that people who have both epilepsy and mood disorders tend to have worse seizure outcomes than those without mood disorders.

    In the U.S., about 2.3 million adults and more than 450,000 children and adolescents have epilepsy, and anyone can develop the disorder. In 2015, an estimated 16.1 million adults at least 18 years old in the U.S. had at least one major depressive episode in the past year, according to federal figures.

    “A number of genes have been found for epilepsy and understanding if these genes also might be causing depression is important,” Heiman said. “In particular, more studies should be done to understand the relationship between focal epilepsy and mood disorders.”

    See the full article here .

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    rutgers-campus

    Rutgers, The State University of New Jersey, is a leading national research university and the state’s preeminent, comprehensive public institution of higher education. Rutgers is dedicated to teaching that meets the highest standards of excellence; to conducting research that breaks new ground; and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

    Founded in 1766, Rutgers teaches across the full educational spectrum: preschool to precollege; undergraduate to graduate; postdoctoral fellowships to residencies; and continuing education for professional and personal advancement.

    Rutgers smaller
    Please give us back our original beautiful seal which the University stole away from us.
    As a ’67 graduate of University college, second in my class, I am proud to be a member of

    Alpha Sigma Lamda, National Honor Society of non-tradional students.

     
  • richardmitnick 10:48 am on January 18, 2018 Permalink | Reply
    Tags: , , , Medicine,   

    From Indiana University and Rutgers University: “Nearly imperceptible fluctuations in movement correspond to autism diagnoses, IU-led study finds” 

    Indiana U bloc

    Indiana University

    Rutgers University
    Rutgers University

    Jan. 17, 2018
    Kevin Fryling
    kfryling@iu.edu
    IU Communications
    Phone: 812-856-2988

    Study provides strongest evidence to date that movement is an accurate biomarker for neurodevelopmental disorders, including autism.

    A new study led by researchers at Indiana University and Rutgers University provides the strongest evidence yet that nearly imperceptible changes in how people move can be used to diagnose neurodevelopmental disorders, including autism.

    1
    IU Ph.D. student Di Wu directs a volunteer as she touches images on a screen using a device designed to track miniscule fluctuation in the arm’s movement. IU-led research suggest physical movement is an accurate method to diagnose neurodevelopmental disorders, including autism. Photo by James Brosher, IU Communications.

    The study’s results, reported Jan. 12 in the Nature journal Scientific Reports, suggest a more accurate method to diagnose autism. Current assessments depend on highly subjective criteria, such as a lack of eye movement or repetitive actions. There is no existing medical test for autism, such as a blood test or genetic screening.

    “We’ve found that every person has their own unique ‘movement DNA,'” said senior author Jorge V. José, the James H. Rudy Distinguished Professor of Physics in the IU Bloomington College of Arts and Sciences’ Department of Physics. “The use of movement as a ‘biomarker’ for autism could represent an important leap forward in detection and treatment of the disorder.”

    It’s estimated that 1 percent of the world’s population, including 3.5 million children and adults in the United States, are diagnosed with autism spectrum disorder, which is the country’s fastest-growing developmental disability.

    Unlike diseases diagnosed with medical tests, autism remains dependent upon symptoms whose detection may vary based upon factors such as the person conducting the assessment. The assessments are also difficult to administer to very young children, or to people with impairments such as lack of verbal skills, potentially preventing early interventions for these groups. Early intervention has been shown to play an important role in successful treatment of autism.

    “Our work is focused on applying novel data analytics to develop objective neurodevelopmental assessments for autism, as well as other neurodevelopmental disorders,” said Di Wu, an IU Ph.D. student and the lead author on the study. “We really need to narrow the gap between what physicians observe in patients in the clinic and what we’re learning about movement within the field of neuroscience.”

    To conduct the study, the researchers examined over 70 volunteers as they moved their arm to touch an object on a screen. The volunteers included 30 individuals previously diagnosed with autism, ages 7 to 30, including a girl with no verbal skills. The group also included 15 neurotypical adults, ages 19 to 31; six neurotypical children; and 20 neurotypical parents of volunteers with autism.

    After the assessment, each volunteer was assigned a “score” based on the level of hidden speed fluctuations in their movement. A lower score indicated a greater risk for autism, with numbers under a certain threshold corresponding to previous diagnosis of autism. The greater amount of fluctuation in the movement of the individuals with autism was possibly related to the level of “noise” naturally produced by random neuron firings in the brain, for which neurotypical individuals seem to develop stronger compensation methods.

    Eighteen of the 30 individuals in the study with autism were assessed at the IU School of Medicine before the experiment, using four standard psychiatric tests for autism. In each case, the movement-based diagnoses corresponded to these qualitative-based assessments, which are rarely in complete agreement.

    The volunteers who scored lower on the scale also exhibited more severe forms of autism. Currently there is no standard accepted quantitative metric to diagnose the disorder’s severity. Also, lower-than-average scores in several of the volunteers’ parents, who did not have an autism diagnosis themselves, suggested that movement could possibly be used to assess a neurotypical parent’s risk for children with autism, José said.

    The volunteers’ movements were captured using high-speed, high-resolution sensors to track fluctuations in movement invisible to the naked eye. The study also tracked changes in speed and position of the arm at every point in movement, as opposed to a single variable — the top movement of the arm’s velocity — examined in a previously published study from the team. The new motion data strengthens evidence for movement as a biomarker for autism.

    Next, the researchers aim to conduct movement assessments on more people, including more research on the parents of children with autism to better understand the connection between lower parental scores on the movement assessment and their children’s risk for autism.

    Dr. John I. Nurnberger Jr., the Joyce and Iver Small Professor of Psychiatry and director of the Institute of Psychiatric Research at the IU School of Medicine, provided access to volunteers with autism, as well as medical expertise, to the study. An additional major contributor to the study was Elizabeth Torres at Rutgers University.

    This study was supported in part by the National Science Foundation, the Nancy Lurie Marks Family Foundation and New Jersey Governor’s Council for Medical Research and Treatment of Autism.

    See the full article here .

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    rutgers-campus

    Rutgers, The State University of New Jersey, is a leading national research university and the state’s preeminent, comprehensive public institution of higher education. Rutgers is dedicated to teaching that meets the highest standards of excellence; to conducting research that breaks new ground; and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

    Founded in 1766, Rutgers teaches across the full educational spectrum: preschool to precollege; undergraduate to graduate; postdoctoral fellowships to residencies; and continuing education for professional and personal advancement.

    Rutgers smaller
    Please give us back our original beautiful seal which the University stole away from us.
    As a ’67 graduate of University college, second in my class, I am proud to be a member of

    Alpha Sigma Lamda, National Honor Society of non-tradional students.

    Indiana U Campus

    Indiana University students get it all—the storybook experience of what college should be like, and the endless opportunities that come with it. Top-ranked academics. Awe-inspiring faculty. Dynamic campus life. International culture. Phenomenal music and arts events. The excitement of IU Hoosier sports. And a jaw-droppingly beautiful campus.

     
  • richardmitnick 8:08 am on January 8, 2018 Permalink | Reply
    Tags: , , ‘Trophic support’, Medicine, The ‘metabolic vulnerability’ hypothesis, Transneuronal spread, Two abnormal proteins: amyloid beta and tau,   

    From U Cambridge: “Advances in brain imaging settle debate over spread of key protein in Alzheimer’s” 

    U Cambridge bloc

    University of Cambridge

    05 Jan 2018
    Craig Brierley
    Craig.Brierley@admin.cam.ac.uk

    Recent advances in brain imaging have enabled scientists to show for the first time that a key protein which causes nerve cell death spreads throughout the brain in Alzheimer’s disease – and hence that blocking its spread may prevent the disease from taking hold.

    1
    Alzheimer’s patients & carers. Credit: Global Panorama

    An estimated 44 million people worldwide are living with Alzheimer’s disease, a disease whose symptoms include memory problems, changes in behaviour and progressive loss of independence. These symptoms are caused by the build-up in the brain of two abnormal proteins: amyloid beta and tau. It is thought that amyloid beta occurs first, encouraging the appearance and spread of tau – and it is this latter protein that destroys the nerve cells, eating away at our memories and cognitive functions.

    Until a few years ago, it was only possible to look at the build-up of these proteins by examining the brains of Alzheimer’s patients who had died, post mortem. However, recent developments in positron emission tomography (PET) scanning have enabled scientists to begin imaging their build-up in patients who are still alive: a patient is injected with a radioactive ligand, a tracer molecule that binds to the target (tau) and can be detected using a PET scanner.

    In a study published today in the journal Brain, a team led by scientists at the University of Cambridge describe using a combination of imaging techniques to examine how patterns of tau relate to the wiring of the brain in 17 patients with Alzheimer’s disease, compared to controls.

    Quite how tau appears throughout the brain has been the subject of speculation among scientists. One hypothesis is that harmful tau starts in one place and then spreads to other regions, setting off a chain reaction. This idea – known as ‘transneuronal spread’ – is supported by studies in mice. When a mouse is injected with abnormal human tau, the protein spreads rapidly throughout the brain; however, this evidence is controversial as the amount of tau injected is much higher relative to brain size compared to levels of tau observed in human brains, and the protein spreads rapidly throughout a mouse’s brain whereas it spreads slowly throughout a human brain.

    There are also two other competing hypotheses. The ‘metabolic vulnerability’ hypothesis says that tau is made locally in nerve cells, but that some regions have higher metabolic demands and hence are more vulnerable to the protein. In these cases tau is a marker of distress in cells.

    The third hypothesis, ‘trophic support’, also suggests that some brain regions are more vulnerable than others, but that this is less to do with metabolic demand and more to do with a lack of nutrition to the region or with gene expression patterns.

    Thanks to the developments in PET scanning, it is now possible to compare these hypotheses.

    “Five years ago, this type of study would not have been possible, but thanks to recent advances in imaging, we can test which of these hypotheses best agrees with what we observe,” says Dr Thomas Cope from the Department of Clinical Neurosciences at the University of Cambridge, the study’s first author.

    Dr Cope and colleagues looked at the functional connections within the brains of the Alzheimer’s patients – in other words, how their brains were wired up – and compared this against levels of tau. Their findings supported the idea of transneuronal spread, that tau starts in one place and spreads, but were counter to predictions from the other two hypotheses.

    “If the idea of transneuronal spread is correct, then the areas of the brain that are most highly connected should have the largest build-up of tau and will pass it on to their connections. It’s the same as we might see in a flu epidemic, for example – the people with the largest networks are most likely to catch flu and then to pass it on to others. And this is exactly what we saw.”

    Professor James Rowe, senior author on the study, adds: “In Alzheimer’s disease, the most common brain region for tau to first appear is the entorhinal cortex area, which is next to the hippocampus, the ‘memory region’. This is why the earliest symptoms in Alzheimer’s tend to be memory problems. But our study suggests that tau then spreads across the brain, infecting and destroying nerve cells as it goes, causing the patient’s symptoms to get progressively worse.”

    Confirmation of the transneuronal spread hypothesis is important because it suggests that we might slow down or halt the progression of Alzheimer’s disease by developing drugs to stop tau from moving along neurons.

    3
    Image: Artist’s illustration of the spread of tau filaments (red) throughout the brain. Credit: Thomas Cope.

    The same team also looked at 17 patients affected by another form of dementia, known as progressive supranuclear palsy (PSP), a rare condition that affects balance, vision and speech, but not memory. In PSP patients, tau tends to be found at the base of the brain rather than throughout. The researchers found that the pattern of tau build-up in these patients supported the second two hypotheses, metabolic vulnerability and trophic support, but not the idea that tau spreads across the brain.

    The researchers also took patients at different stages of disease and looked at how tau build-up affected the connections in their brains.

    In Alzheimer’s patients, they showed that as tau builds up and damages networks, the connections become more random, possibly explaining the confusion and muddled memories typical of such patients.

    In PSP, the ‘highways’ that carry most information in healthy individuals receives the most damage, meaning that information needs to travel around the brain along a more indirect route. This may explain why, when asked a question, PSP patients may be slow to respond but will eventually arrive at the correct answer.

    The study was funded by the NIHR Cambridge Biomedical Research Centre, the PSP Association, Wellcome, the Medical Research Council, the Patrick Berthoud Charitable Trust and the Association of British Neurologists.

    See the full article here .

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    U Cambridge Campus

    The University of Cambridge (abbreviated as Cantab in post-nominal letters) is a collegiate public research university in Cambridge, England. Founded in 1209, Cambridge is the second-oldest university in the English-speaking world and the world’s fourth-oldest surviving university. It grew out of an association of scholars who left the University of Oxford after a dispute with townsfolk. The two ancient universities share many common features and are often jointly referred to as “Oxbridge”.

    Cambridge is formed from a variety of institutions which include 31 constituent colleges and over 100 academic departments organised into six schools. The university occupies buildings throughout the town, many of which are of historical importance. The colleges are self-governing institutions founded as integral parts of the university. In the year ended 31 July 2014, the university had a total income of £1.51 billion, of which £371 million was from research grants and contracts. The central university and colleges have a combined endowment of around £4.9 billion, the largest of any university outside the United States. Cambridge is a member of many associations and forms part of the “golden triangle” of leading English universities and Cambridge University Health Partners, an academic health science centre. The university is closely linked with the development of the high-tech business cluster known as “Silicon Fen”.

     
  • richardmitnick 4:40 pm on December 28, 2017 Permalink | Reply
    Tags: , ASD-autism spectrum disorders, Genetic variants linked to autism spectrum disorders (ASD) may have been positively selected during human evolution because they also contribute to enhanced cognition a new Yale study suggests, Medicine,   

    From Yale: “Genetic risk of autism spectrum disorder linked to evolutionary brain benefit” 

    Yale University bloc

    Yale University

    February 27, 2017 [Brought back for interest]
    Bill Hathaway

    1
    (© stock.adobe.com) Not a young Dr. Sheldon Cooper?

    Genetic variants linked to autism spectrum disorders (ASD) may have been positively selected during human evolution because they also contribute to enhanced cognition, a new Yale study suggests.

    A study based on a genome-wide association study of ASD conducted by the Psychiatric Genomics Consortium and information regarding evolutionary gene selection showed that inherited variants linked to ASD were found under positive selection in larger numbers than would have been expected by chance.

    The final version of the paper was published Feb. 27 in the journal PLOS Genetics.

    Variants that have a large negative impact on reproductive success are generally eliminated from the population quickly. However, common variants that occur with high frequency but small effect can cumulatively have big impacts on complex inherited traits — both positive and negative. If variants provide a better chance of survival, they are positively selected, or tend to stay in the genome through generations.

    “In this case, we found a strong positive signal that, along with autism spectrum disorder, these variants are also associated with intellectual achievement,” said Renato Polimanti, associate research scientist at Yale School of Medicine and VA Connecticut Health Center in West Haven, and first author of the paper.

    For instance, many of the positively selected variants associated with ASD identified by the researchers were enriched for molecular functions related to creation of new neurons.

    “It might be difficult to imagine why the large number of gene variants that together give rise to traits like ASD are retained in human populations — why aren’t they just eliminated by evolution?” said Joel Gelernter, the Foundations Fund Professor of Psychiatry, professor of genetics and of neuroscience, and co-author. “The idea is that during evolution these variants that have positive effects on cognitive function were selected, but at a cost — in this case an increased risk of autism spectrum disorders.”

    The work was funded by National Institutes of Health grants and a NARSAD Young Investigator Award from the Brain & Behavior Research Foundation.

    See the full article here .

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    Yale University Campus

    Yale University comprises three major academic components: Yale College (the undergraduate program), the Graduate School of Arts and Sciences, and the professional schools. In addition, Yale encompasses a wide array of centers and programs, libraries, museums, and administrative support offices. Approximately 11,250 students attend Yale.

     
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