Growth promotion and colonization of switchgrass (Panicum virgatum) cv. Alamo by bacterial endophyte Burkholderia phytofirmans strain PsJN

Background:
Switchgrass is one of the most promising bioenergy crop candidates for the US. It gives relatively high biomass yield and can grow on marginal lands. However, its yields vary from year to year and from location to location. Thus it is imperative to develop a low input and sustainable switchgrass feedstock production system. One of the most feasible ways to increase biomass yields is to harness benefits of microbial endophytes.
Results:
We demonstrate that one of the most studied plant growth promoting bacterial endophytes, Burkholderia phytofirmans strain PsJN, is able to colonize and significantly promote the growth of switchgrass cv. Alamo under in vitro, growth chamber, and greenhouse conditions. In several in vitro experiments, the average fresh weight of PsJN-inoculated plants was approximately 50% higher than non-inoculated plants. When one-month-old seedlings were grown in a growth chamber for 30 days, the PsJN-inoculated Alamo plants had significantly higher shoot and root biomass compared to controls. Biomass yield (dry weight) averaged from five experiments was 54.1% higher in the inoculated treatment compared to noninoculated control. Similar results were obtained in greenhouse experiments with transplants grown in 4-gallon pots for two months. The inoculated plants exhibited more early tillers and persistent growth vigor with 48.6% higher biomass than controls. We also found that PsJN could significantly promote growth of switchgrass cv. Alamo under sub-optimal conditions. However, PsJN-mediated growth promotion in switchgrass is genotype specific.
Conclusions:
Our results show B. phytofirmans strain PsJN significantly promotes growth of switchgrass cv. Alamo under different conditions, especially in the early growth stages leading to enhanced production of tillers. This phenomenon may benefit switchgrass establishment in the first year. Moreover, PsJN significantly stimulated growth of switchgrass cv. Alamo under sub-optimal conditions, indicating that the use of the beneficial bacterial endophytes may boost switchgrass growth on marginal lands and significantly contribute to the development of low input and sustainable feedstock production system.Source:
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Cynapsus Therapeutics Reports First Quarter 2012 Financial Results and Recent Developments

TORONTO, ONTARIO–(Marketwire – May 30, 2012) – Cynapsus Therapeutics Inc. (CTH.V – News), a specialty pharmaceutical company developing an improved dosing formulation of an approved drug used to treat the symptoms of Parkinson’s disease, today announced its results for the three months ended March 31, 2012. Unless specified otherwise, all amounts are in Canadian dollars.

“In the first quarter our team continued to make significant progress on our lead drug candidate, APL-130277,” said Anthony Giovinazzo, President and Chief Executive Officer of Cynapsus. “In particular, the first quarter was highlighted by the announcement of the completion of the first human clinical trial for APL-130277. Building on this success, we remain focused on the completion of a second dose escalation study in the next 60-90 days, as well as preparations for an Investigational New Drug Application to the US FDA for a clinical BioEquivalence study later in the year. The BEQ study is the next critical de-risking milestone that we believe will drive significant shareholder value.”

Financial Highlights

Recent Developments

The following achievements were made during the quarter:

Cynapsus Completed the First Human Volunteer Pilot Proof-of-Concept Clinical Trial For APL-130277. On January 10, 2012, Cynapsus announced positive headline data from its recently completed human volunteer pilot proof-of-concept trial for APL-130277, a sublingual thin film strip formulation of apomorphine. The study showed a pharmacokinetic (PK) profile that compared favorably to injected apomorphine with a mean T-max of 25 minutes and good tolerability, and therefore confirms that APL-130277 has the potential to treat motor fluctuations or “off episodes” in Parkinson’s disease. This was a significant milestone and de-risking event for the project.

Cynapsus Obtained Independent Research Coverage. In February 2012, the Company announced that Loewen, Ondaatje, McCutcheon Limited (“LOM”) initiated analyst coverage of the Company. LOM’s biotech analyst initiation of research coverage provides further independent opinion and view of the strengths, risks and commercial potential of APL-130277.

Cynapsus Added an Additional Expert to the Clinical Advisory Board (“CAB”). During the quarter, Management initiated a search for new CAB candidates that have extensive experience in the clinical management of Parkinson’s patients. In April 2012, subsequent to the end of the quarter, the Company announced that it has appointed Dr. Abraham Lieberman to the CAB. Dr. Lieberman is the current Director of the Muhammad Ali Parkinson Center and Movement Disorder Clinic of the Barrow Neurological Institute at St. Joseph’s Hospital and Medical Center in Phoenix, Arizona.

Cynapsus Initiated Discussions to Strengthen the Board of Directors. During the quarter, the Board initiated a search for new Board candidates. In May 2012, subsequent to the end of the quarter, the Company announced that Dr. Perry Molinoff, Dr. Thomas Picone, and Anthony Giovinazzo, were named as candidates to join its Board of Directors at the May 30, 2012 Annual and Special Meeting of Shareholders. Mr. Giovinazzo and Dr. Molinoff were nominated and elected to the Board at the meeting held earlier in the day, along with Mr. Ronald Hosking, Dr. Julia Levy, Dr. Alan Ryley, Ms. Rochelle Stenzler and Mr. Alan Torrie. Dr. Picone was not nominated today for personal reasons, however his candidacy is still in process and he may join the Board of Directors in the next three months, subject to Board and Exchange approval.

Cynapsus Commenced Work on the Second Human Volunteer Pilot Proof-of-Concept Clinical Trial For APL-130277. During the quarter, the Company began work on a second Phase 1 healthy human volunteer pilot study to provide additional insights related to a two dose comparison, as well as some minor changes to the prototype composition. This pilot study commenced in May 2012, subsequent to the end of the quarter, with results expected to be announced in July or August 2012.

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Robinson diagnosed with Parkinson’s Disease

State Rep. John Robinson (D-Scottsboro) said on Thursday he is in the early stages of Parkinson’s Disease.

Robinson said he was diagnosed in January, shortly before the start of the 2012 Alabama Legislative Session.

“I’m on medication,” said Robinson. “It’s not a death sentence. It’s treatable, but not curable.”

Currently serving his fifth term in office after first being elected in 1994, Robinson said he only missed two days of the legislative session this year.

Parkinson’s Disease is a chronic, degenerative neurological disorder that affects one in 100 people over age 60. It leads to shaking (tremors) and difficulty with walking, movement and coordination.

Robinson said he’s had no problems with shaking.

“It gets my voice,” he said. “And my coordination when I’m walking.”

Robinson said he is going this summer to see a special neurologist in Chicago, one who has treated Muhammed Ali and Michael J. Fox.

Robinson, who retired from the Jackson County District Attorney’s Office after entering politics, will complete 20 years in office when his current term ends. His five terms as state representative is the most for a person from Jackson County.

“I’m proud of that,” he said.

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Latest Doctor Line9: Parkinson’s

KUSA – If you or someone you know has Parkinson’s disease (PD) you are not alone. In the United States, as many as 60,000 cases of PD are diagnosed each year. Our morning show devoted a full call-in to the topic on Thursday.

We had Parkinson’s disease specialists in our information center, along with the President of the Parkinson Association of the Rockies.

The experts say (PD) is a neurodegenerative brain disorder that progresses slowly in most people. What this means is that individuals with PD will be living with PD for twenty years or more from the time of diagnosis.

While Parkinson’s disease itself is not fatal, the Center for Disease Control rated complications from the disease as the 14th top cause of death in the United States. There is currently no cure for Parkinson’s; however, there are treatments that help control the symptoms of PD and can give those afflicted with it, a good quality of life.

Learn more by visiting:http://www.parkinsonrockies.org/

(Copyright 2012 by The Associated Press. All Rights Reserved.)

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Methylphenidate for gait hypokinesia and freezing in patients with Parkinson’s disease undergoing subthalamic …

This multicentre, parallel, double-blind, placebo-controlled, randomised trial was done in 13 movement disorders departments in France between October, 2009, and December, 2011. Eligible patients were younger than 80 years and had Parkinson’s disease, severe gait disorders, and freezing of gate despite optimised treatment of motor fluctuations with dopaminergic drugs and subthalamic stimulation. We randomly assigned patients (1:1 with a computer random-number generator in blocks of four) to receive methylphenidate (1 mg/kg per day) or placebo capsules for 90 days. Patients, their carers, study staff, investigators, and data analysts were masked to treatment allocation. To control for confounding effects of levodopa we assessed patients under standardised conditions with an acute levodopa challenge. Our primary outcome was a change in the number of steps during the stand-walk-sit (SWS) test without levodopa. We compared the respective mean numbers of steps at day 90 in the methylphenidate and placebo groups in a covariance analysis and adjusted for baseline differences. This trial is registered with ClinicalTrials.gov, number NCT00914095.

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Big Bets on MS

Yesterday was World MS Day, designated to raise awareness about multiple sclerosis. Sanofi launched a program to mobilize and inspire people with MS called Everyday Matters. Biogen Idec, among other things, conducted an essay competition in Japan for stories from people living with MS. Acorda Therapeutics (Nasdaq: ACOR) launched an online talk show.

Cute marketing gimmicks — especially the talk show — but in the big picture, none of it matters all that much for sales. Ultimately, efficacy and safety will rule.

CRABs Teva Pharmaceuticals’ (Nasdaq: TEVA) Copaxone, Rebif — marketed by Pfizer (NYSE: PFE) and Merck KgaA — Biogen’s Avonex, and Bayer’s Betaseron are the oldies-but-goodies for multiple sclerosis. They’re not exceptionally effective — they certainly don’t cure MS — but doctors will continue to use them because they do delay the progression of MS and doctors have lots of experience with them.

We should throw Novartis’ (NYSE: NVS) Extavia into the mix here since it’s the same drug as Betaseron sold under a different label after each pharma bought the biotechs that had rights to Betaseron.

Stratifying riskBiogen and Elan’s (NYSE: ELN) Tysabri works better than the older medications, but it has a distinct disadvantage: the potential for an often-fatal brain infection called progressive multifocal leukoencephalopathy, or PML.

Tysabri doesn’t cause PML directly. That honor goes to the JC virus. Tysabri just helps the normally harmless virus do its dirty work. While keeping the immune system from attacking the patient’s own cells, Tysabri also discourages the immune system from attacking the JC virus.

The JC virus is present in about half of patients. If it isn’t floating around dormant in the body, it can’t cause PML. So Biogen and Elan developed an assay to detect the JC virus. The assay has only been on the market for a short time, but it seems to be helping the companies capture patients earlier in their disease progression, which should help increase sales.

Needle-freeThe second generation of multiple sclerosis drugs are taken orally. Novartis’ Gilenya was the first on the market, but it hasn’t been a hot seller because of safety concerns.

Biogen’s BG-12, Teva’s laquinimod, and Sanofi’s teriflunomide have all completed phase 3 trials, and it looks like BG-12 is the winner. Biogen recently submitted the drug to the Food and Drug Administration, so a decision should be made near the end of the year.

Like Gilenya, I’d expect BG-12 to have a slow start. MS is a progressive disease that isn’t immediately life-threatening for most patients, so there’s little reason for most patients to be guinea pigs. Doctors will likely start with patients that have a strong aversion to needles to get a feel for the drug before prescribing it to a wider audience.

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Prep Your Bed for Multiple Sclerosis

TWIN FALLS Bed racing in downtown Twin Falls is a crazy sight, but its meant to call attention to multiple sclerosis, an illness with devastating effects.

Judy and John Fisher organize an annual Bed Race fundraiser, now in its third year, to support MS research. Five-person teams will race downtown June 16, and its time to prepare your bed and polish your racing technique.

It started as a wild idea of a way to raise money, John said. We make more money this way than by walking.

While the Twin Falls couple still participates in a multiple sclerosis walk, John said, their fundraising from the Bed Race grew from $500 the first year to $3,000 last year.

Besides the main event, raffle prizes will include visits to Lagoon, Roaring Springs, Cactus Petes Resort Casino and Silver City.

Each year weve had a better turnout and weve had a lot of good help and sponsors, said Judy, who has MS. Which is great because people dont seem to realize how serious the illness is.

David Elgan of Jerome is an example of how the illness can change the course of a life. Elgans military career with the National Guard was squashed after his diagnosis in 2010.

The pain in my feet was so bad I couldnt run, Elgan said. I wish more people knew what MS is and what its all about. This disease takes away your life.

Elgan is trying to assemble a team for the races but said it will be a last-minute feat if it comes together.

Ive never laughed so much in my life, Elgan said of watching last years races.

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Research and Markets: Therapy Trends: Multiple Sclerosis

DUBLIN–(BUSINESS WIRE)–

Dublin – Research and Markets (http://www.researchandmarkets.com/research/2z54ns/therapy_trends_mu) has announced the addition of the “Therapy Trends: Multiple Sclerosis” report to their offering.

On the cusp of a treatment revolution

An incisive report and dynamic analyst briefing service delivering insight from the most influential Multiple Sclerosis (MS) Key Opinion Leaders to map the current treatment landscape and analyse future trends.

Multiple Sclerosis: On the cusp of a treatment revolution

The year 2012 will see landmark changes in the treatment of MS. Gilenya, the first novel drug in five years, is to be joined by three new products; BG-12 from Biogen Idec, Sanofi’s Aubagio and Genzyme’s Lemtrada. These drugs will partially satisfy substantial unmet needs of convenient administration and more efficacious therapy to drive unprecedented market growth.

Driven by in-depth interviews with the world’s leading multiple sclerosis KOLs, Therapy Trends: Multiple Sclerosis uncovers how the current treatment landscape will be impacted by significant future events, with particular focus on pipeline therapies and how these will modify the way MS is managed by neurologists in the future.

Drive your strategic decision-making with inside intelligence

Therapy Trends: Multiple Sclerosis disseminates critical opinion and analysis to provide premier research.

– We cut to the heart of market-changing events and eliminate superfluous background information so you can focus on developments of greatest strategic impact and reduce your reaction time

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CMS, Partners to Reduce Antipsychotic Drugs for Dementia in Nursing Homes

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Medicare News

CMS, Partners to Reduce Antipsychotic Drugs for Dementia in Nursing Homes

Government joins providers, caregivers, patients to ensure better use of antipsychotic drugs in nursing homes; follows bi-partisan senate action to curb use of the drugs<

May 31, 2012 – With a goal of reducing use of antipsychotic drugs in nursing home residents by 15 percent by the end of this year, the Centers for Medicare and Medicaid Services yesterday introduced the Partnership to Improve Dementia Care. No doubt a motivating factor is a bill crafted by Sen. Herb Kohl, chair of the Special Committee on Aging, that will require Health and Human Services to gain consent from nursing home patients or their guardians prior to the administration of these drugs.

In making the announcement, CMS Acting Administrator Marilyn Tavenner, said the initiative to ensure appropriate care and use of antipsychotic medications for nursing home patients is a partnership among federal and state partners, nursing homes and other providers, advocacy groups and caregivers

Unnecessary antipsychotic drug use is a significant challenge in ensuring appropriate dementia care, according to CMS. Agency data show that in 2010 more than 17 percent of nursing home patients had daily doses exceeding recommended levels.

We want our loved ones with dementia to receive the best care and the highest quality of life possible, said Tavenner.

We are partnering with nursing homes, advocates, and others to improve the quality of care these individuals receive in nursing homes.

Sen. Kohl, D-Wis., was joined in his amendment to S. 3187 by senators from both political party, including Sen. Chuck Grassley, R-Iowa, and Richard Blumenthal, D-Conn. The bill is the Food and Drug Administration Safety and Innovation Act.

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Breakthrough test pinpoints severity of dementia risk

Breakthrough test pinpoints severity of dementia risk

By Fiachra O Cionnaith

Thursday, May 31, 2012

People who are concerned that their memory loss is the first sign of dementia could be set to benefit from a breakthrough screening test.

A major conference in Cork next week will hear of the potential development, which could be available to Irish people over the coming months.

Currently, anyone who believes their memory loss may be the first sign of dementia a condition which affects mental functions such as memory, language, attention, and problem-solving can undergo a test to determine if they are at risk.

However, the mini-mental state exam which was developed in the 1970s and is considered a key tool in identifying the condition cannot clarify whether a person has a small risk of dementia or is in far greater danger of developing dementia.

Prof Willie Molloy and Dr Rnn Caoimh of University College Cork and the nearby St Finbarrs Hospital have developed a new test which can differentiate between ranges of dementia.

By using their mild cognitive impairment (QMCI) test, they believe patients can be told whether they must prepare for the full rigours of the condition or if it will have practically no affect on their lives.

“People with mild cognitive impairment have variable, subtle changes to their memory, but this can be hard to detect,” said Prof Molloy.

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Dementia care model that reduces hospitalizations successfully translated into practice

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Cindy Fox Aisen caisen@iupui.edu 317-274-7722 Indiana University School of Medicine

INDIANAPOLIS — An innovative model of dementia care that significantly reduces emergency department visits and hospitalizations, and encourages use of medications that are not harmful to older brains, has now been used to treat over 1,000 patients. The Aging Brain Care model was developed by researcher-clinicians from the Regenstrief Institute and the Indiana University School of Medicine.

Extending the definition of a patient to include family members who enable cognitively impaired individuals to live in the community, physicians, nurses, social workers and other staff members work closely with both the older adult and family caregivers — in the exam room and in the home, as well as over the phone and via email — to deliver care to improve both brain and physical health.

This month, the 1,000th patient was seen at the Wishard Healthy Aging Brain Center, the first facility to use the ABC model. The Healthy Aging Brain Center is both a research lab and a treatment facility focused on the mental status of elder adults. The center has seen reductions of 45 percent in hospital emergency department visits and 54 percent in hospitalization stays in patients compared to similar individuals not seen in the center.

“Patients treated utilizing the ABC model have fewer behavioral and psychological symptoms of dementia after one year than they had at the onset of treatment,” said Regenstrief investigator Malaz Boustani, M.D., associate professor of medicine at the IU School of Medicine and the medical director of the Wishard center.

Patients receiving care in the Healthy Aging Brain Center are given an initial cognitive assessment including neuropsychological testing, an MRI, a medication review and a structured neurological and physical evaluation. The staff then helps both patient and caregivers develop a personal treatment plan that typically includes recognizing potentially harmful medications, prescribing new medications, initiating brain and physical exercise regimens, and working on reducing stress to improve daily life.

“Our research over the past decade has shown the importance of families and communities, in addition to medical care, in improving the quality of life for older adults with dementia,” said Regenstrief investigator Christopher Callahan, M.D., Cornelius and Yvonne Pettinga Professor in Aging Research at the IU School of Medicine. “The HABC uses a team-based approach to help get everyone on the same page in meeting the goals of care for the patient and their family caregivers.”

Dr. Callahan sees patients at the Healthy Aging Brain Center and is also founding director of the IU Center for Aging Research.

The Healthy Aging Brain Center receives referrals from across the country and has quickly become a nationally recognized leader in the care of older adults, according to Dr. Boustani, a geriatrician.

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Dementia patients may go without drugs

DEMENTIA patients fear they will no longer have access to life-improving treatments after the Government announced it would review the cost-effectiveness of subsidising drugs for sufferers.

The Pharmaceutical Benefits Advisory Committee (PBAC) announced on Monday it would review all medications available to dementia sufferers under the Government’s Pharmaceutical Benefits Scheme (PBS).

The announcement followed an initial review by the committee that found “these medicines were being prescribed to a much larger population for longer periods of time than was originally agreed as cost-effective by the PBAC”.

Alzheimer’s Australia says patients and their carers are worried the review may mean the drugs will no longer be discounted and will become unaffordable.

“People with dementia and carers are alarmed by the announcement of this review,” Alzheimer’s Australia CEO Glenn Rees told AAP today.

“That’s quite a lot for many of these people because they would have lost their incomes or they’ll be on pensions,” he said.

Mr Rees said sufferers are concerned the review may be part of the Government’s cost-cutting measures.

Alzheimer’s Australia president Ita Buttrose, who cared for her father who suffered from vascular dementia, said carers were particularly concerned about what the review may mean.

“What those drugs do is improve the quality of life for a person with dementia,” Ms Buttrose told AAP today.

“It adds another stress to the whole business of caring. They’re thinking now the drugs aren’t going to be available.”

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Sturgeon meets ‘dementia widow’

31 May 2012 Last updated at 11:18 ET

An Aberdeen woman who said her husband had 106 carers for his dementia in the space of a year has met Health Secretary Nicola Sturgeon.

Jeanette Maitland said the different people sent by agencies working for Aberdeen’s social work department contravened her husband Ken’s dignity.

Mr Maitland died from a dementia-related illness on 12 May aged 72.

Mrs Maitland attended the meeting with fellow members of the National Dementia Carers Action Network.

The meeting was described as positive and further talks are planned.

Aberdeen City Council chief executive Valerie Watts has pledged to look into the case.

Mrs Maitland previously told BBC Scotland she initially wrote down the names of her husband’s carers so that she could get to know them.

She said: “I kept writing, writing, writing, until we’re here where we are today with 106 carers.

“Where is respect for his dignity? I feel I should have sold tickets.”

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Amazing Andrew: Graduation just another milestone

Holding out his ring finger with the mechanical nonchalance of someone who gets pricked by a needle five times a day, Andrew Cabatingan’s eyes widen at the momentary nip of pain.

It’s 2:30 p.m. on a Tuesday afternoon, which means it’s time for the diabetic Christopher High School senior to stop sifting through possible essay topics on carbon capture technologies or high volume water fracking. Andrews teaching aid, Ray Miranda, needs to check Andrews insulin levels.

I’ve been taking your blood so many times, you should consider me a vampire, man, jokes Miranda, leaning forward in his chair and fiddling with Andrews insulin pump.

The 44-year-old para-educator is Andrews constant companion during school hours, save for the daily half-hour breaks Miranda takes from 10:30 to 11 a.m., Mondays through Fridays.

Or, as Andrew puts it, he ditches.

After four years spent sitting through every class alongside Andrew at Gilroy High School and later CHS after it opened in 2009, I’m filing for divorce as soon as he graduates, Miranda retorts, sarcastically.

Todays commencement ceremony at CHS mark a milestone for the wheelchair-bound, legally blind 18-year-old whose severe neuromuscular disease which causes diabetes as a symptom hasnt stopped him from pursuing a higher education at UC Berkeley.

Recognized by his teachers as a brilliant pupil who rakes in straight As and always seems to be smiling (Andrews expression frequently relaxes into a big, pearly grin), the senior who loves the SpongeBob SquarePants cartoon and molecular environmental biology with equal conviction, rocks the paradigm for what can be achieved when life hands you a bucket full of lemons.

Andrew was diagnosed at the age of 6 with a recessive hereditary, degenerative condition called Friedreich’s ataxia, which causes muscular incoordination, loss of balance, scoliosis, progressive damage to the nervous system, speech problems, diabetes, vision/hearing impairment and cardiac problems. Most people with Friedreich’s ataxia die in early adulthood if there is significant heart disease, while others with less-severe symptoms live much longer, according to the American Academy of Neurology.

But despite the gradual loss of mobility and the inability to read on his own, he just gets it, said CHS finite math teacher Bob Santos, remarking on Andrews acute ability to process complex equations.

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New treatment for irritability in autism

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Rhiannon Bugno biol.psych@utsouthwestern.edu 214-648-0880 Elsevier

Philadelphia, PA, May 31, 2012 Autism is a developmental disorder that affects social and communication skills. Irritability is a symptom of autism that can complicate adjustment at home and other settings, and can manifest itself in aggression, tantrums, and self-injurious behavior. These disruptive behaviors are frequently observed in children with autism, which may considerably affect their ability to function at home or in school.

N-acetylcysteine (NAC) is approved by the US Food and Drug Administration for the treatment of acetaminophen (Tylenol) overdoses, but it may have other applications related to its effects in the brain. NAC helps maintain and restore glutathione, which play a key role in the antioxidant defense system. Additionally, cysteine as supplied by NAC treatment, stimulates a protein, the cystine-glutamate antiporter, resulting in the decrease of glutamatergic neurotransmission. NAC has two resulting effects: 1) it may protect brain cells by raising the level of a protective antioxidant metabolite called glutathione, and 2) it may reduce the excitability of the glutamate system by stimulating inhibitory receptors.

These drug actions are important because, although the causes of autism are unknown, it is clear that there are many influencing factors and scientists are pursuing multiple hypotheses. Two in particular relate to NAC: one theory is that autism may be caused by an imbalance between oxidants and antioxidants in the body; the other is that the glutamate system may be dysfunctional in individuals with autism.

These hypotheses led researchers at Stanford University and the Cleveland Clinic to conduct a pilot trial of NAC in children with autistic disorder. Children were randomized to receive either NAC or placebo daily for 12 weeks and their symptoms were evaluated four times during that period.

They found that irritability was significantly decreased in the children who received NAC. In addition, NAC was well-tolerated and caused minimal side effects.

Lead author Dr. Antonio Hardan commented, “Data from this preliminary trial suggest that NAC has the potential to be helpful in targeting irritability in children with autism. It is also unclear if NAC improves other symptom domains in autism.”

“At this point it is too early to tell how NAC reduced irritability in autism, but this finding will be an important addition to the field if it can be replicated,” said Dr. John Krystal, Editor of Biological Psychiatry, where the study is being published.

Dr. Hardan agreed, adding that “large randomized controlled trials are needed to attempt to replicate the findings from this pilot trial and to determine whether or not NAC is effective in targeting other symptoms observed in autism such as repetitive and restricted interests.” This small pilot study was the first step and so the next stages of work can now begin to determine whether NAC could potentially become an approved treatment for autism.

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Fever During Pregnancy May Raise Odds for Autism in Offspring

By Denise Mann HealthDay Reporter

TUESDAY, May 29 (HealthDay News) — Women who develop fevers while pregnant may be more than twice as likely to have a child with autism spectrum disorder or another developmental delay, a new study suggests.

Exactly how, or even if, fevers may increase the risk for autism is unknown, and experts were quick to say women should not panic if they do develop a fever while pregnant because taking fever-reducing medications cuts the risk.

One in 88 children in the United States has an autism spectrum disorder, according to the U.S. Centers for Disease Control and Prevention. This is an umbrella term for developmental disorders that can range from mild to severe and that often affect social and communication skills. Little is known about what causes autism or precisely why rates seem to be increasing.

Researchers from the University of California, Davis asked the moms of about 1,100 kids with and without autism spectrum disorder or other developmental delays whether they had the flu or fever during their pregnancies and if they took any medications to treat these illnesses. Their findings were published online in the Journal of Autism and Developmental Disorders.

According to the new data, moms who had a fever from any cause during pregnancy were more than twice as likely to have a child with autism or another developmental delay, when compared with moms who did not run fever during pregnancy. Moms who had the flu during pregnancy were not at greater risk for having children with autism or another developmental delay.

What’s more, moms who took fever-reducing medication during pregnancy had similar risks as those moms who did not run a fever during their pregnancy.

“Our study provides strong evidence that controlling fevers while pregnant may be effective in modifying the risk of having a child with autism or developmental delay,” study author Dr. Ousseny Zerbo, a postdoctoral researcher with Kaiser Permanente’s Northern California Division of Research in Oakland, Calif., said in a university news release. Zerbo was a doctoral candidate with UC Davis when the study was conducted. “We recommend that pregnant women who develop fever take anti-[fever] medications and seek medical attention if their fever persists.”

The findings are culled from the Childhood Autism Risks from Genetics and Environment (CHARGE) study. This is the same dataset that recently led to a report that moms who are obese or have diabetes may be at higher risk for having children with autism. The common denominator between diabetes, obesity and fever is inflammation.

“This study puts the spotlight on inflammatory factors as a possible role in autism,” said Dr. Y. Jane Tavyev, director of pediatric neurology at pediatric services at Cedars Sinai in Los Angeles. But, she added, “I don’t think that this should make people panic about getting sick during pregnancy. Mounting a fever is part of the body’s immune response to help kill bacteria and viruses.”

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Hunting Down My Son’s Killer [Medicine]

I found my son’s killer. It took three years. But we did it. I should clarify one point: my son is very much alive. Yet, my wife Cristina and I have been found responsible for his death.

My son Bertrand has a new genetic disorder. Patient 0. To find it, a team of scientists at Duke University used whole-exome sequencing (a protein-focused variant of whole-genome sequencing) on me, my wife and my son.

We discovered that my son inherited two different (thus-far-unique) mutations in the same genethe NGLY1 genewhich encodes the enzyme N-glycanase 1. Consequently, he cannot make this enzyme.

My son is the only human being known to lack this enzyme. Below, I’m documenting our journey to the unlikeliest of diagnoses. This is a story about the kind of hope that only science can provide. (An open access article in The Journal of Medical Genetics contains the detailed results from ground-breaking experiment that diagnosed him.)

Aside from severe jaundice, Bertrand was normal at birth. For two months, he developed normally. At three months, his development had slowed, but it was “within normal variations.” By six months, he had little to no motor control. He seemed, as we described it, “jiggly.” Something was wrong.

Bertrand was eight months old when he met with his developmental pediatrician for the first timejust after our move to Utah. I was at my first faculty retreat on the day of his exam, and after it let out, I found a flood of voicemail and text messages from my wife.

My heart jumped. The pediatrician thought Bertrand had brain damage, so she scheduled an MRI for the following week.

The MRI showed an apparently healthy, normal brain. So, his case was escalated to a pediatric neurologist. The neurologist confirmed that he had a movement disorder, but his presentation was “puzzling”: he had neither characteristic chorea nor ataxia.

The neurologist ordered a round of bloodwork. This was the first of dozens of blood draws to come. (We now send Bertrand’s “favorite” phlebotomists holiday cards.)

The lab results reported only one anomaly: extremely elevated alpha-fetoprotein (AFP) relative to what it should have been for his age.

Excerpt from:
Hunting Down My Son's Killer [Medicine]

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Parenting Through the Challenges of Autism: A new book out today by MIT Sloan School’s Anjali Sastry offers practical …

CAMBRIDGE, Mass.–(BUSINESS WIRE)–

When Anjali Sastry received the formal diagnosis that her three-year-old son had autism, she feltas any parent wouldlost, afraid, and helpless.

But after the shock wore off, she got educated. She read every book and scientific study about autism she could get her hands on. She shadowed her sons therapists, and met professors of special education doing promising research. She hunted down developmental psychologists to get ideas on learning techniques she could try with her son at home. She built teams of helpersfrom teachers to family members to babysittersand designed newsletters and reports that would support her childs learning. Over the years, whenever a friend, colleague, or friend-of-friend received a diagnosis of autism for one of their children, Sastry was the person to turn to for help. Many people told her: You should write a book.

And so she did. Sastry says her book, Parenting Your Child with Autism, is one that she wishes she could have received all those years ago when her oldest son was first diagnosed. The book, co-authored by Dr. Blaise Aguirre, is both a handbook to help caregivers choose the right treatments and educational approaches for their child, but also a self-help guide filled with wisdom and warmth from an empathetic mother who understands the complexities of parenting children with special needs. (Sastrys younger son has Aspergers, an autism spectrum disorder.)

Parenting a child who has autism is a journeyone that Ive been on for over ten years now, says Sastry, who is a senior lecturer at MITs Sloan School of Management. When your child has autism, every decision can seem weighty because youre working so hard to help your child learn without the advantage of the full complement of skills, capabilities, and motivation that are mostly inherent in typically developing children. My goal is to help parents make smarter decisions by becoming the special kind of experts they need to be when it comes to their kids.

Sastry, whose professional focus is on global health deliveryproviding medical care in poor settings where needs are high, aims to teach caregivers how to blend research with action by applying the scientific method to their parenting.

There is so much data about autism coming out all the time, she says. Parents must have an understanding of the ideas supported by those studies, but in order to choose the best options for their kids, they ought to assemble their own evidence. This involves gathering data about their child based on the time they spend with them, and experiments where theyve tried new things at home and school; making sense of it with the help of doctors, teachers, and therapists; and then combining it with other information. Only then will they be able to evaluate whether their child could do better with a new approach, dietary change, medication, or treatment.

The book begins with a survey of current thinking about autism and its causes and cures. The next section is a guide to the diagnostic process, and gives advice for parents on how to collaborate with medical professionals to select the right interventions. It also gives suggestions for partnering with teachers and schools.

The final part of the book contains personal and professional recommendations to help parents build an everyday life that works for the entire family. Its parent-friendly techniques range from simple programs that shore up a childs social interaction and language, to approaches for teaching household chores clearing the table, making the bed, for instance – that will foster the childs independence. These ideas are based on anecdotes from Sastry and other parents as well as medical experts.

Parents of children with autism report very high levels of stress, says Sastry. But there is also evidence that they rebound within two years after getting an initial diagnosis. My best advice to families coming to terms with the diagnosis is that even if the way forward seems difficult right now, it will get better. You do regain your footing. If our book helps you get there any faster, well have reached our goal.

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LEGO Star Wars Writer Michael Price to Appear on ‘Autism Live’ 6/6

LOS ANGELES, CA–(Marketwire -05/31/12)- LEGO Star Wars Padawan Menace writer and Simpsons writer/co- executive producer Michael Price will join his wife bestselling autism memoir author Monica Holloway, to give an interview on Autism Live regarding the couple’s service to families affected by autism inspired by their son Wills, 15, on the Autism Spectrum.

Price and Holloway both are dedicated supporters of Autism Speaks and Special Needs Network, two charities dedicated to autism. Price also credits Wills with providing him the inspiration for the story he used in writing the recent landmark 500th episode of The Simpsons, showing anything is possible for those affected by the disorder. In 2011 Holloway received the Special Needs Network ‘Woman of Distinction Award’ for her work spreading awareness of autism. Michael and Monica led the only dedicated school-wide team of 40 special-ed teachers and families as ‘Team Frostig’ at the 2012 Autism Speaks walk in Los Angeles.

Most importantly, Price and Holloway are always eager to go the extra mile for another family affected by autism, whether it may be listening to the story of a newly diagnosed family, introducing a child with autism to a new friend, hosting an autism-friendly kids party in their home, or lending encouragement to a parent who needs help just facing the day.

For media inquiries, including interview requests or speaking engagements with Price, please contact Jess Block, Media Relations, at 909-706-8525 or JessBlockPR@gmail.com.

ABOUT MICHAEL PRICE: Michael Price is an Emmy and Writers Guild award-winning Writer and Co-Executive Producer on The Simpsons. Price also contributed to the writing of the Simpsons Movie and wrote the acclaimed Lego Star Wars special, Lego Star Wars: The Padawan Menace.

ABOUT MONICA HOLLOWAY: Monica Holloway is the bestselling author of Cowboy & Wills, a Mother’s Choice Award’s Gold recipient, and the critically acclaimed author of the memoir Driving With Dead People, described by Newsweek as “unforgettable,” Glamour christened “a classic,” and the Washington Post deemed “irresistible.” Holloway lives with her son Wills and husband Michael Price, Co-Executive Producer of The Simpsons, in Sherman Oaks, CA. http://www.monicaholloway.com/

ABOUT AUTISM LIVE: An online show about autism providing support, resources, information, facts, entertainment and inspiration to parents, teachers and practitioners working with children on the Autism Spectrum LIVE weekdays from 9am to 12pm PT at http://blip.tv/autismlive

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Check Out CGL’s Exome Sequencing Test

6a00e009846ac188330168eb80fe20970c-320wiAt the ASCO Annual Meeting in Chicago (June 1 to June 5), the Cancer Genetics Laboratory and the Whole Genome Laboratory at Baylor College of Medicine (BCM) will officially announce the clinical implementation of the Cancer Exome Sequencing test. This test is the result of a collaboration between genomic scientists, clinical laboratory scientists, geneticists and oncologists at BCM to provide reliable cancer genome-wide analyses that are carefully annotated and interpreted for clinical significance.

The Cancer Exome Sequencing test follows on the successful 2011 launch of germline exome sequencing for the evaluation of inherited disorders. The Cancer Exome Sequencing test focuses on somatically acquired genetic alterations in tumors and applies the power of next-generation sequencing technology to cancer genetics in a CAP/CLIA-approved setting with clinical interpretation of sequence information. This test is ordered by a physician and may be used when a patient’s oncology management would benefit from identifying genetic changes in the tumor that predict sensitivity or resistance to a variety of therapeutic regimens.

Cancer Exome Sequencing is poised to change the current paradigm of genetic testing for cancer patients by focusing on whole exome analysis of a patient’s tumor. The term exome refers to the portion of the human genome that contains the DNA sequence that directs protein synthesis. These functionally important regions of DNA are referred to as exons. The 22,000 known genes are comprised of approximately 180,000 exons and represent about 3% of the genome. Most errors in DNA sequence that lead to altered protein function in tumors are located in the exons, therefore, exome sequencing is an efficient method for tumor DNA sequence analysis to uncover genetic causes for tumor behavior.

The principle of the test is to sequence nucleotide by nucleotide, the human exome of normal tissue (generally blood) and a sample of tumor tissue to a depth of coverage necessary to determine sequence variations that are unique to the tumor (somatic mutations) with high sensitivity. Point mutations, insertions and deletions of the exome are potentially discoverable and could be considered important for cancer management depending on the defect and available evidence. These sequence variations are then categorized based on their role in defining a specific tumor property or tumor sensitivity to established and novel therapeutic approaches. This test will report all somatic mutations identified in the tumor genome and classifies them according to clinical utility based on careful evaluation of functional and clinical evidence in the medical/scientific literature and the availability of agents targeted to a specific gene or pathway. This test also reports the presence of inherited (germline) genetic variations in selected genes known to increase the risk for cancer (e.g. APC, TP53, and others).

Please join Baylor College of Medicine at the ASCO Annual Meeting (Booth #22082) for additional information on the Cancer Exome Sequencing test and to meet with BCM Medical Directors to further discuss this test and other services.

 

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