Gene Mutations Offer Clues to Autoimmune Disorders

WEDNESDAY, June 16 (HealthDay News) -- A new study finds that rare gene variations are more common in people with disorders in which the immune system attacks the body. These autoimmune disorders include rheumatoid arthritis and type 1 diabetes.

Researchers report that the findings could lead to better treatments -- although that's not guaranteed -- and pave the way for scientists to link uncommon genetic variations to other diseases.

The research is focused on mutations in the gene coding an enzyme in charge of a crucial cell in the immune system. The enzyme, called sialic acid acetylesterase, controls the immune system's B cells -- white cells that produce antibodies to fight the foreign proteins of viruses, bacteria and other invaders. If the enzyme fails to rein in the B cells, they may attack the body's healthy cells by mistake.

To view the full article, click the link in this post's title.

Prognosis Good for Most Children With Epilepsy: Study

THURSDAY, June 17 (HealthDay News) -- Children with new-onset epilepsy of unknown origin have a much higher rate of remission than those with symptomatic epilepsy, caused by underlying brain damage or disease.

That's the finding of a new study by researchers in The Netherlands who evaluated the course and outcome of childhood epilepsy in 413 children over a 15-year period. The children were ages 1 month to 16 years (mean age at onset was 5.5 years) when they were diagnosed with epilepsy. They were followed for five years and contacted again 10 years later.

By the end of the study, 70.9 percent (293) of the participants had been in remission for at least five years, while 30 percent still had active epilepsy that became intractable in one out of 10 of them. The majority of patients in remission had been diagnosed with epilepsy of unknown origin, also known as idiopathic epilepsy.

To view the full article, click the link in this post's title.

June 2010 Newsletter

The June 2010 newsletter is up! We had 28 checkouts this month, several new patrons, and almost 100 articles sent out, along with several exciting new additions to the library.

To view the newsletter, click the link in this post's title.

May 2010 Newsletter

The May newsletter is out! We had eleven new patrons and over thirty checkouts this month, with over 100 articles sent out to patrons!

To view the newsletter, click the link in this post's title.

Imaging Reveals How Brain Fails to Tune out Phantom Sounds of Tinnitus

ScienceDaily (June 23, 2010) — About 40 million people in the U.S. today suffer from tinnitus, an irritating and sometimes debilitating auditory disorder in which a person "hears" sounds, such as ringing, that don't actually exist. There isn't a cure for what has long been a mysterious ailment, but new research suggests there may, someday, be a way to alleviate the sensation of this sound, says a neuroscientist from Georgetown University Medical Center (GUMC)

In a Perspective piece in the June 24 issue of Neuron, Josef P. Rauschecker, PhD, says that tinnitus should be thought of as a disorder akin to the "phantom pain" felt in an amputated limb.

Tinnitus starts with damage to hair cells in the cochlea of the inner ear. This damage forces neurons in the brain's auditory areas, which normally receive input from that part of the cochlea, to become overactive to fill in the missing sound, he says. That extra, unreal noise is normally inhibited -- or tuned out -- by a corrective feedback loop from the brain's limbic system to the thalamus, where all sensory information is regulated, before it reaches the cerebral cortex, where a person becomes conscious of the senses. But that doesn't happen in tinnitus patients due to compromised brain structures in the limbic system.

The full article may be viewed by clicking the link in this post's title.

The Fight Against Autism Goes High Tech

FRIDAY, June 18 (HealthDay News) -- From iPods to robots to avatars, people with autism are increasingly taking advantage of cutting-edge technologies to improve their social skills and, in the process, break the isolation of their condition.

"We use them as a bridge to develop communication skills people with autism don't have, like social referencing [for example, making eye contact]," explained Katharina Boser, president of Individual Differences in Learning of Howard County, Maryland, and co-chair of the Innovative Technology for Autism (ITA) committee at one of the nation's leading autism advocacy groups, Autism Speaks. "There are a range of devices that can support people at different levels," she said.

Several of these technologies were demonstrated recently at the International Meeting for Autism Research (IMFAR) in Philadelphia, which was sponsored by Autism Speaks and the International Society for Autism Research.

Among other things, the very predictability of robots, toys and computer-generated avatars are a low-threat way for autistic children to learn new skills, Boser explained.

NOTE: Click on the title above to read the full article.

In South Carolina, Advocacy Overturns Governor's Library Vetoes

By Norman Oder Jun 22, 2010 (Library Journal)

In less than a week, South Carolina library advocates and their allies not only got Governor Mark Sanford's veto of state aid to libraries overturned, but did so at margins State Library Director David Goble told LJ were greater than any other override vote--thanks to legislators' recognition that library Internet access is a key to the economic recovery.

Last week, Sanford vetoed $4,653,933 in state aid to public libraries and $1,172,758 in stimulus funds to public libraries, a decision that "is immediately catastrophic to the citizens who use our public libraries," Goble warned. Librarians and advocates got on the phone and the computer, contacting their legislators via the state's version of CapWiz, an application provided by the American Library Association.

The full article may be viewed by clicking the link in this post's title.

Researchers Report New Autism Genes Discovered

University of Illinois at Chicago researchers are part of an international consortium working with Autism Speaks, the world's largest autism science and advocacy organization, which today reports new autism genetic discoveries.

The new report shows that individuals with autism tend to carry more sub-microscopic insertions and deletions called copy-number variants (CNV) in their genome than nonautistic people do. Some of these CNV appeared to be inherited, while others are considered new because they are found only in affected offspring and not in the parents. Taken together, more of the CNVs disrupt genes previously reported to be implicated in intellectual disability without autism or in autism than expected by chance.

These findings further support an emerging consensus within the scientific community that autism is caused in part by many "rare variants" or genetic changes found in less than 1 percent of the population. While each of these variants may only account for a small fraction of the cases, collectively they are starting to account for a greater percentage of individuals in the autism community, as well as providing insights into possible common pathogenic mechanisms.

The full article may be viewed by clicking the link in this post's title.

Visual System Interprets Sign Languages

ScienceDaily (June 2, 2010) — Spanish sign language is used by over 100,000 people with hearing impairments and is made up of hundreds of signs. CVC-UAB researchers Sergio Escalera, Petia Radeva and Jordi Vitrià selected over twenty of these signs to develop a new visual interpretation system which allows deaf people to carry out consultations in the language they commonly use.

Signs can vary slightly depending on each user. Project researchers took this into account during the trials carried out with different people to help the system "become familiarised" with this variability. The signs recognised by the system were programmed to allow deaf people to maintain a basic conversation, including asking for help or directions. "For them it is a non artificial way of communicating and at the same time they can engage with people who do not speak sign language since the system translates the symbols into words in real time," Sergio Escalera said.

The hardware includes a video camera which records image sequences when it detects the presence of a user wanting to make a consultation. A computer vision and automatic learning system detects face, hand and arm movements, as well as any screen scrolling, and incorporates these into a classification system which identifies each movement with the word associated with the sign.

The full article may be viewed by clicking the link in this post's title.

Mannitol Boosts Effectiveness of Potential Cord Blood Treatment for Cerebral Palsy in Lab Animals, Study Finds

ScienceDaily (June 1, 2010) — The sugar-alcohol compound mannitol improved the therapeutic effectiveness of human umbilical cord blood cells injected into neonatal rat models of cerebral palsy, reports a new international study led by the University of South Florida. The mannitol opened the blood-brain barrier by temporarily shrinking the tight endothelial cells that make up the barrier.

Intravenously-delivered human umbilical cord blood (HUCB) may offer therapeutic benefits to those suffering from cerebral palsy if the blood cells can get past the blood-brain barrier to the site of injury, the research team suggests. Their findings were recently published online in the Journal of Cellular and Molecular Medicine (14:4).

The mannitol treatment did not increase the survival of human umbilical cord blood (HUCB) grafts, but by elevating the trophic factors HUBC combined with mannitol "could mediate robust functional improvement," according to Dr. Borlongan and his co-authors.

"Intravenous delivery of human umbilical cord blood alone promoted behavioral recovery in neonatal animal models of cerebral palsy, but their functional improvement was more pronounced when human umbilical cord blood transplantation was combined with mannitol," commented Dr. Borlongan.

The full article may be viewed by clicking the link in this post's title.

Autism Finding Could Lead to Simple Urine Test for the Condition

ScienceDaily (June 5, 2010) — Children with autism have a different chemical fingerprint in their urine than non-autistic children, according to new research published tomorrow in the print edition of the Journal of Proteome Research.

The researchers behind the study, from Imperial College London and the University of South Australia, suggest that their findings could ultimately lead to a simple urine test to determine whether or not a young child has autism.

The distinctive urinary metabolic fingerprint for autism identified in today's study could form the basis of a non-invasive test that might help diagnose autism earlier. This would enable autistic children to receive assistance, such as advanced behavioural therapy, earlier in their development than is currently possible.

At present, children are assessed for autism through a lengthy process involving a range of tests that explore the child's social interaction, communication and imaginative skills.

The full article maybe viewed by clicking the link in this post's title.

World's Largest DNA Scan Reveals Rare Variants That Disrupt Gene Activity in Autistic Children

ScienceDaily (June 10, 2010) — The world's largest DNA scan for familial autism has uncovered new genetic changes in autistic children that are often not present in their parents. Identified in less than 1 percent of the population, these rare variants occur nearly 20 percent more in autistic children.

Using blood samples from 996 elementary school-age children diagnosed on the autism spectrum from the United States, Canada, and Europe, the scientific teams combed the children's DNA for rare deletions and duplications. In particular, they hunted for changes in the genetic information that a child inherits from each parent. The families consisted of parents with one autistic child.

"We discovered two striking things. First, the rare variants interfered nearly 20 percent more in the genes of autistic children than in the healthy children," said Dr. Daniel Geschwind, Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and UCLA professor of neurology and psychiatry. "Second, we found a number of disruptions that are new, or de novo. The autistic child is the first in their family to carry that variant. The parents do not have it.

"This suggests that tiny genetic errors may occur during formation of the parents' eggs and sperm, and these variations are copied during creation of their child's DNA," added Geschwind, who is also director of the UCLA Center for Autism Research and Treatment. "The finding parallels what takes place in chromosomal disorders like Down's syndrome."

The full article may be viewed by clicking the link in this post's title.

Work Incentive Seminar Event - 6/30/2010

Seminar: SSI and DI

Below are the details for this meeting.

Meeting Date: Wednesday, June 30, 2010
Meeting Type & Time: 9:30 a.m. - 1:00 p.m.
Meeting Name: West Columbia, SC 6/30/10
Meeting Location: Babcock Center
Street Address: 2725 Banny Jones Avenue
City, State and Zip: West Columbia, SC 29170
Presenter:
Contact: CJ Bilka
Contact's Phone: 803-935-5202
Contact's Email: cbilka@scvrd.state.sc.us
Hosting organization: South Carolina Pathways To Employment
Meeting Directions: Located off of Platt Springs Rd. between NCR and the Airport Midlands Technical School.

Registration information and the full info page for this conference may be viewed by clicking the link in this post's title.