Annals of Internal Medicine tip sheet for July 31, 2012 online issue

Public release date: 30-Jul-2012 [ | E-mail | Share ]

Contact: Abbey Anderson aanderson@acponline.org 215-351-2656 American College of Physicians

1. Task Force Recommends Against Screening ECG for Asymptomatic Adults at Low Risk for Coronary Heart Disease

Coronary heart disease (CHD) is the leading cause of death in the United States for both men and women. Certain physical and lifestyle characteristics increase risk for CHD, yet some low-risk patients may suffer a CHD event without warning. Electrocardiogram (ECG) can detect abnormalities that may predict a future CHD event. However, in 2004, the United Sates Preventive Services Task Force found a lack of evidence that ECG screening in asymptomatic, low-risk adults improves health outcomes. Subsequently the Task Force recommended against routine ECG screening for asymptomatic adults at low risk for CHD. To update its previous recommendation, the Task Force reviewed new research published since its 2004 recommendation to compare the benefits and harms of screening asymptomatic adults with ECG with no screening at reducing the risk for CHD events. The researchers also looked at how identifying high-risk individuals affected treatment to reduce risk, and the accuracy of risk-stratification. The Task Force found that while ECG could detect abnormalities that are associated with an increased risk for a serious CHD event, screening asymptomatic, low-risk adults was highly unlikely to result in changes in risk stratification that would prompt interventions that would eventually reduce CHD events. The Task Force found adequate evidence that screening this population leads to at least small harms such as unnecessary invasive procedures, overtreatment, and labeling. Therefore, the Task Force continues to recommend against screening ECG for asymptomatic, low-risk adults.

2. Government Agency Identifies Future Research Needs to Improve Health Care Practice

The Agency for Healthcare Research and Quality (AHRQ) Evidence-based Practice Center (EPC) Program is an ongoing, federally-funded initiative to develop evidence reports and technology assessments on health care topics that affect a large portion of the population. Topics for research are nominated by non-federal partners such as professional societies, health plans, insurers, employers, and patient groups. Subsequently, clinical guidelines and recommendations are developed with the goal of helping patients, clinicians, payers, and policy makers make good health care decisions that are based on reliable evidence. At times, there are gaps in the research that prevent systematic reviewers from answering central questions. These gaps may include insufficient studies on sub-populations, insufficient studies with appropriate comparators, lack of appropriate outcomes measured, and/or methods problems. Using five principles developed to guide a research agenda setting process, the AHRQ EPC program identified several topic areas where future research is needed. These include gestational diabetes; integration of mental health/substance abuse in primary care; reducing the risk for primary breast cancer; clinically localized prostate cancer; and ADHD, among other common or costly health care issues.* According to the author, the AHRQ hopes that this approach to assessing the need for future research will help other groups interested in engaging stakeholders in prioritizing research.

*A full list of topics is included in the article tables, available upon request

3. The Patient-Centered Outcomes Research Institute Announces Funding for Upcoming Projects

The Patient-Centered Outcomes Research Institute, or PCORI, advocates for the role of patients in research and considers the importance of their perspective in the development of research programs. With funds from the Patient Protection and Affordable Care Act, PCORI will invest $3 billion between now and 2019 in research intended to improve health care decision-making. As part of PCORI's National Priorities, it will award $96 million for proposals of comparative effectiveness research in the areas of prevention, diagnosis, and treatment options for patients; improvements of health care systems; communication and dissemination research; and disparity reduction or elimination strategies. According to PCORI leaders, patient-centered research should focus on areas that will directly affect patients and their caregivers, resulting in greater understanding of their conditions, the benefits and harms of treatments available to them, and how to get the best care. PCORI funding announcements are communicated in a way that promotes collaboration. Four key concepts guide PCORI in its effort to support patient-centered research. According to the authors, PCORI uses research to inform, not dictate decisions; it calls for applications through grassroots efforts; it considers patients to be partners in the research, and not just subjects; and it is dedicated to the dissemination, adoption, and successful application of the research as well as promotion of the strongest science.

###

See the original post:

Annals of Internal Medicine tip sheet for July 31, 2012 online issue

Legacy of Dr. John Marx lives on at CMC ER

Dr. John Marx devoted his life to emergency medicine.

He once wrote that he felt proud and lucky to help people in that terrible moment in their life when they havent expected to wake up in the morning and have their wife die or have their child severely injured or paralyzed in a car crash.

His own unexpected death came in a much different way.

Marx, who spent 20 years as chairman of emergency medicine at Carolinas Medical Center, died at home in his sleep on July 1. He was 62, with no known health problems.

Karin Marx said she and her two sons had gone for groceries while her husband took a nap that Sunday afternoon. When they returned, she could tell right away that something was wrong. He could not be revived.

He was the love of my life, she said. We were kind of gearing down to retire. We wanted to travel and do things together.

A private memorial service was held in the Marx front yard, in keeping with the doctors personality. He never wanted the spotlight to shine on himself, said Dr. Michael Gibbs, his successor at CMC.

The service drew leaders in emergency medicine from across the country, including Dr. Peter Rosen, one of the founders of emergency medicine as a specialty.

Marx had worked with Rosen at Denver Health Medical Center before moving to Charlotte. Rosen, founding editor of Rosens Emergency Medicine, the leading textbook, had chosen Marx to succeed him as editor-in-chief several years ago.

In 1991, when emergency medicine was still a new specialty, CMC recruited Marx from Denver, which had the premiere residency program at the time, said Dr. Lee Garvey, director of emergency cardiac care at CMC.

See the original post here:

Legacy of Dr. John Marx lives on at CMC ER

For Pfizer, Boston’s medical labs a lure

Pfizer Inc., the worlds largest pharmaceutical company, has a storied history of hunting for blockbuster drugs in its own labs. These days it is also hunting for collaborations with outside physician-scientists who could help it develop cures for diseases ranging from lung cancer to osteoporosis.

A natural habitat of this breed doctors who treat patients, teach at academic medical centers, and run government-funded research labs is Bostons Longwood Medical Area, home to Harvard Medical School and a cluster of its famous teaching hospitals. Thats where Pfizers new Centers for Therapeutic Innovation has established its worldwide headquarters.

The drug giant is betting it can bring more treatments to market by working with academic researchers in medical hubs like Boston. It also has set up satellite centers in New York, San Francisco, and La Jolla, Calif., outside San Diego, to strike alliances in those areas. Overall, Pfizer is committing up to $100 million to such collaborations over the next five years.

Were trying to change biomedical research globally, said Pfizers Jose-Carlos J.C. Gutierrez-Ramos in an interview from the companys perch on the top floor of a new glass-faced office tower at 3 Blackfan Circle. The old model is not efficient for us or for the academic medical centers, said Gutierrez-Ramos, who is Pfizers senior vice president and head of biotherapeutics research and development.

Other companies also are eager to share the costs and risks of developing new drugs with partners in the Boston area. Novartis AG, Sanofi SA, and Merck & Co. are among the global drug makers accelerating their partnering moves in the region.

Earlier this month Sanofi, which raised its profile by buying Cambridge-based biotech Genzyme Corp., entered into a diabetes research deal with Harvard-affiliated Brigham and Womens Hospital.

Boston is without a doubt number one for pharmas trying to cash in on the hope of a mother lode from academic drug research, said Kevin J. Gorman, managing partner at a Burlington life sciences consulting firm, Putnam Associates. Theyre placing bets on the roulette table. But its also a reflection that the internal efforts of the pharmas havent been terribly productive.

While each companys approach is different Novartis is codeveloping drugs with biotechs, while Sanofi is investing in life sciences start-ups Pfizers strategy may represent the most dramatic departure from its traditional research and development methods. The company signaled its intentions 17 months ago with the announcement it would move neuroscience and cardiovascular metabolic research operations to Cambridge from a sprawling campus in Groton, Conn.

Pfizers old business model involved either taking experimental treatments from the labs to the market by itself or buying companies that already had promising drug candidates. Both approaches were expensive generating fewer successes and alienating investors at a time when some of the companys best-selling products were losing their patent protection. That meant more competition from lower-cost generics.

Now, New York-based Pfizer is making fewer acquisitions and doing less early-stage research. Instead it is piggybacking more on the work of physician-scientists from other organizations. It is collaborating with Dr. Markus Frank at Harvard-affiliated Boston Childrens Hospital, for example, on a stem cell treatment for malignant melanoma. Pfizer also is partnering with Dr. David Salant at Boston Medical Center, a Boston University hospital, on a kidney disease therapy.

See the rest here:

For Pfizer, Boston’s medical labs a lure

Learn How to Balance Medical School and Extracurriculars

While medical school is extremely demanding, that doesn't mean students can't juggle school requirements with outside interests. Medical schools frequently offer opportunities to help out in free clinics in the community, or even travel overseas before starting clinical rotations. There are also opportunities for being involved in activities outside of medicine. Students should take advantage of ...

See more here:

Learn How to Balance Medical School and Extracurriculars

Liberty All Star Equity Fund Goes Ex-Dividend Soon

Looking at the universe of stocks we cover at Dividend Channel, on 8/1/12, Liberty All Star Equity Fund (NYSE: USA) will trade ex-dividend, for its quarterly dividend of $0.08, payable on 9/17/12. As a percentage of USA's recent stock price of $4.62, this dividend works out to approximately 1.73%. Click here to find out which 9 other stocks going ex-dividend you should know about, at ...

See the article here:

Liberty All Star Equity Fund Goes Ex-Dividend Soon

First Liberty Power Corp. Announces Gravity Survey Results for Smoky Valley Lithium Project

LAS VEGAS, July 30, 2012 /PRNewswire/ -- First Liberty Power Corp. (FLPC) (the "Company") is pleased to announce the results for the next phase of the exploration on the Company's Smoky Valley Property ("SV Claims"). A gravity survey organized by GeoXplor Corp and recently completed by Hasbrouck Geophysics has produced several positive outcomes.

A total of 116 separate gravity stations were acquired along seven profiles, and interpretation of the modeled gravity data indicates there is a large topographic low, or basin, that looks to be closed off to the south but so far remains open to the north. This large extensive basin area appears to indicate the potential accumulation of lithium-bearing brines, which will be the focus of the Company's next stage of exploration work.

To further define the indicated basin closure, the Company's existing gravity survey will be extended slightly to the west and east and one additional line will be undertaken one kilometer south. Further, a minimum of two additional lines will be taken to the north, separated by one kilometer each, to better determine northern basin closure. Immediately subsequent to the completion of this supplemental gravity survey work, the survey team will begin controlled-source audio-magnetotellurics / magnetotellurics (CSAMT/MT) surveys which will be conducted in selected areas based on the gravity survey conclusions. The CSAMT/MT surveys are used to determine if conductive zones indicative of lithium-bearing brines are present and, if so, to map the dip and continuity of those aquifer beds.

Don Nicholson, CEO and President of First Liberty Power Corp., commented, "I am very pleased with the encouraging exploration results on the SV Claims, which to date are validating our expectation that both Lida Valley and Smoky Valley are very prospective for having a significant lithium brine resources. GeoXplor Corp. and Jim Hasbrouck have previously completed significant amounts of work for us on our Lida Valley property, and with their extensive regional knowledge, the Company is very confident in achieving equally positive outcomes for Smoky Valley. As CEO, I am in constant communication with the exploration team and the Board of Directors of First Liberty Power Corp. with a focus and determination to provide timely updates to shareholders as the Company's as exploration program advances through its planned stages."

The SV Claims are located approximately 5 miles northwest of the Chemetall Foote (now Rockwood Lithium) operation in Silver Peak, Nevada, which is the only producing lithium brine operation in North America. In the 1970's the US Geological Survey ("USGS") conducted a gravity survey covering Clayton Valley and the valley connecting Clayton Valley to Big Smoky, where the SV Claims are located. The USGS survey map demonstrated a noticeable relationship between the brine field in Clayton Valley and the deepest parts of the Smoky Valley. The map proposed to the surveyors that there is a height of bedrock between the SV Claims and Clayton Valley which could act as a barrier for water moving from Big Smoky Valley to Clayton Valley.

About Us

First Liberty Power Corp. is a Nevada based mineral exploration company with a primary focus on lithium exploration and development in the United States. The Company is positioned to capitalize on the anticipated increase in demand for lithium carbonate that is projected to result from the acceleration of the adoption and use of clean renewable energy products that utilize lithium-ion batteries.

ContactFirst Liberty Power Corp. http://www.firstlibertypower.com info@firstlibertypower.com Investor Relations Telephone: (800) 709-1196

Notice Regarding Forward-Looking Statements

This current report contains "forward-looking statements," as that term is defined in Section 27A of the United States Securities Act of 1933 and Section 21E of the Securities Exchange Act of 1934. Statements in this press release which are not purely historical are forward-looking statements and include any statements regarding beliefs, plans, expectations or intentions regarding the future, including but not limited to, the final outcome Lida Valley and Smokey Valley exploration / work programs, the specific nature and extent of the next phase of our exploration program, our ability to raise the necessary capital to complete our exploration program, and any mineralization, exploration and development of our mineral properties, specifically in regards to Lithium.

Read the original here:

First Liberty Power Corp. Announces Gravity Survey Results for Smoky Valley Lithium Project

Kristen Stewart, Liberty Ross Bond on Red Carpet: What Their Body Language Reveals

Foreshadowing photo?

Months before Kristen Stewart was caught kissing her Snow White and the Huntsman director Rupert Sanders by photographers in L.A. on July 17, the actress posed alongside his wife, Liberty Ross, on the red carpet of the blockbuster's London premiere May 14.

PHOTOS: Kristen cheats on Rob with Rupert: All the shocking photos!

In one pic taken at Empire Leicester Square, British model Ross, 33, who played the mother of a younger version of Stewart's Snow White in the film, appears to holds hands with Stewart, 22. Ross hugs Charlize Theron, who is standing between the two women, and smiles at the camera while also reaching over to Stewart. The Twilight actress, standing on the other side of Theron and next to her costar Lily Cole, stares back at Ross with a slight smile.

"This is the photo of the ultimate betrayal," body language expert Dr. Lillian Glass tells Us Weekly of the compelling snapshot. "[Kirsten has] got what's called an ambivalent smile. Her eyes aren't smiling, but she's got like a half smile of her mouth."

PHOTOS: Rob and Kristen's relationship

Late last Tuesday, Us revealed the exclusive photos of Stewart's shocking fling with Sanders, 41, from their steamy rendezvous on July 17. The next day, Stewart issued a statement apologizing to her real-life boyfriend and Twilight costar Robert Pattinson, 26, for the "momentary indiscretion" saying it "has jeopardized the most important thing in my life, the person I love and respect the most, Rob. I love him, I love him, I'm so sorry."

Although her photographed fling with Sanders didn't unfold until three months later, Glass speculates that Stewart has a look of guilt on her face in the May 14 shot.

"Liberty has gone and touched her and reached out. And she's looking like she's made a friend," the author of The Body Language Advantage explains to Us. "Liberty looks very happy, like she would not suspect anything. She's posing for the camera, she's reaching out to Kristen, touching her. She looks very relaxed and very much in control."

PHOTOS: Kristen and Rupert's road to infidelity

Read more:

Kristen Stewart, Liberty Ross Bond on Red Carpet: What Their Body Language Reveals

Liberty Star Provides 2012/2013 Exploration Plans Update

TUCSON, Ariz.--(BUSINESS WIRE)--

Liberty Star Uranium & Metals Corp. (Liberty Star or the Company) (LBSR: OTCBB) is pleased to provide an updated program for exploration activity on its properties in Alaska and Arizona. The 2012/2013 exploration program will include:

The Company plans to fund its current BCSP drilling program through private placements and its financing arrangement with Fairhills Capital (NR 118). Liberty Star Management continues discussions with various entities regarding short term and large scale funding of its Big Chunk Super Project.

James A. Briscoe James A. Briscoe, Professional Geologist, AZ CA CEO/Chief Geologist Liberty Star Uranium & Metals Corp.

Forward-Looking Statements

Statements in this news release that are not historical are forward-looking statements. Forward-looking statements in this news release include all our planned exploration work, our planned payments to keep properties in good standing, and that the results of our planned work will provide good information on our assets. Factors which may delay or prevent these forward-looking statements from being realized include: the failure of our exploration program to identify targets; we may not be able to raise sufficient funds to complete our intended exploration, keep our properties or carry on operations; and an inability to continue exploration due to weather, logistical problems, labor or equipment problems or hazards even if funds are available. Despite encouraging data there may be no commercially exploitable mineralization on our properties. Readers should refer to the risk disclosures in the Companys recent 10-K and the Companys other periodic reports filed from time to time with the Securities and Exchange Commission.

Visit link:

Liberty Star Provides 2012/2013 Exploration Plans Update

Liberty Tax Offers Tax Classes with Emphasis on New IRS Standards

VIRGINIA BEACH, Va.--(BUSINESS WIRE)--

Liberty Tax Service offers over 11,000 fall online and in-store tax preparation classes across the country that can help its students learn or refresh a marketable skill thats in demand. Taking the ten-week classes can also provide a fresh consumer perspective of how to save money on ones own tax return in a tight economy where every little bit helps.

The companys instruction includes how to become a registered tax preparer with the IRS, receive a Preparer Tax Identification Number (PTIN) from the IRS, and continue professional development in accordance with new IRS standards. The certainty of an ever-changing and confusing income tax code provides a million people employment in the tax industry each year. Over 60% of consumers opt for professional help to have their returns prepared.

Theres no down side to taking the class. It may pay off with new job opportunities and a bonus of tax savings, said John Hewitt, CEO and Founder of Liberty Tax Service. Many people may make the same mistakes year after year on their returns, often overlooking a tax advantage multiple times. After completing the class, students can apply for seasonal employment with Liberty Tax Service.

The curriculum engages students in practical application of the tax code to prepare returns, and covers the schedules, credits and forms used to file individual returns.

The companys basic income tax preparation classes educate the public about the latest tax changes, and every facet of individual income tax preparation. No prior tax experience is necessary to enroll and take the class, and students are under no obligation to Liberty Tax.

Class schedules are flexible with day or evening classes available twice a week for ten weeks. Theres a minimal charge for books and supplies. Liberty Tax Service is actively recruiting bilingual tax school students. To learn more about job opportunities and Libertys series of tax courses, visit http://www.libertytax.com/tax-education.html or call 1-800-658-1042.

About Liberty Tax Service

Liberty Tax Service is the fastest-growing retail tax preparation company in the industrys history, founded in 1997 by CEO John T. Hewitt, a pioneer in the tax industry. A tax school opportunity was the entry point for Hewitts entry into the tax industry in 1969. The Company has over 4100 offices in the United States and Canada, with the majority owned by franchisees.

The Class A Common stock of JTH Holding, Inc. (TAX), the parent company of Liberty Tax Service is traded on the NASDAQ Global Market. The Give Me Liberty! magazine contains more Liberty company news and information.

Read more from the original source:

Liberty Tax Offers Tax Classes with Emphasis on New IRS Standards

Russia, Japan seek to resolve islands feud

SOCHI, Russia, July 29 (UPI) -- Russia and Japan are far apart in resolving their Kuril Islands dispute but they agreed during the weekend to hold frequent high level talks to find a solution.

Japanese Foreign Minister Koichiro Gemba, who held talks with his Russian hosts in the Black Sea resort city of Sochi, told a news conference although wide gaps remain between the two countries over the issue, the two sides intend to keep talking in an attempt to resolve their territorial feud, Kyodo News reported.

The dispute is over four islands in the Kuril chain held by Russia since the former Soviet Union took them after World War II. Japan has been demanding the return of the islands, known as the Northern Territories in Japan and the Southern Kurils in Russia, Kyodo said. The territorial issue has prevented the two sides from concluding a formal postwar peace treaty.

"With regard to the issue of a peace agreement, in reality, positions of the two countries are still different," Kyodo reported Russian Foreign Minister Sergei Lavrov told reporters with Gemba. "But both sides agreed setting their territorial dispute is essential to boost economic and security cooperation."

The Japanese foreign minister also spoke to Russian President Vladimir Putin during his visit and the two agreed Japanese and Russian economic relations hold much potential, the news service said.

Gemba's Russia trip follows that of a visit by Russian Prime Minister Dmitry Medvedev to Kinashiri, one of the four islands, early this month, which drew protest from the Japanese government, Kyodo said.

Lavrov was quoted as saying any protest would not help create an environment for constructive bilateral talks.

Putin, who wants the peace treaty concluded, was quoted as expressing hope of meeting Japanese Prime Minister Yoshihiko Noda during the Asia-Pacific Economic Cooperation forum leaders' gathering in Vladivostok in September.

Visit link:

Russia, Japan seek to resolve islands feud

Gene mutations linked to most cases of rare disorder — Alternating Hemoplegia of Childhood

Public release date: 30-Jul-2012 [ | E-mail | Share ]

Contact: Phil Sahm phil.sahm@hsc.utah.edu 801-581-2517 University of Utah Health Sciences

(SALT LAKE CITY)Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy. Unfortunately, medications that work for epilepsy have been unsuccessful in controlling the recurrent attacks of paralysis, leaving parents and physicians with few options, and significantly disabling those affected.

Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC. The study was published online on Sunday, July 29, 2012, in Nature Genetics.

In a collaborative effort with the AHC Foundation, Kathryn J. Swoboda, M.D., co-first author on the study, associate professor of neurology and pediatrics, and director of the Pediatric Motor Disorders Research Program at the University of Utah, established an international database of patients with AHC from around the world, starting with a single family nearly 14 years ago. This database now includes 200 affected individuals from more than a dozen countries. Access to clinical information and DNA samples from this database were critical to the success of the international collaboration that helped to identify the first gene causing AHC in a significant percentage of patients.

"AHC is almost always a sporadic disease, which means that there is no family history of the disorder," says Tara Newcomb, genetic counselor, University of Utah Department of Neurology, and a co-author of the study. "The rarity of the disease and the almost exclusively sporadic inheritance made AHC an ideal candidate for next-generation sequencing."

The mysterious and intermittent nature of the neurologic symptoms, which range from unusual eye movements to seizure-like episodes, to partial and/or full body paralysis often results in a prolonged diagnostic odyssey for parents and children, according to Matthew Sweney, M.D., an instructor in the U of U Departments of Neurology and Pediatrics and an epilepsy specialist at Primary Children's Medical Center. "Families often present again and again to the emergency room, and children may undergo dozens of tests and invasive procedures," says Sweney, also a study co-author. "Often, it is only after the spells fail to respond to antiepileptic medications that the diagnosis is considered."

The ATP1A3 gene encodes one piece of a key transporter molecule that normally would move sodium and potassium ions across a channel between neurons (nerve cells) to regulate brain activity. Mutations in this gene are already known to cause another rare movement disorder, rapid onset dystonia parkinsonism, and clinical testing for mutations in this gene is readily available through a blood test. "Having a means to confirm a diagnosis more quickly, using a simple blood test, will allow us to better care for our patients and provide them opportunities for early enrollment in clinical trials," Swoboda says. "The identification of the gene provides scientists with the opportunity to identify specifically targeted and truly effective therapies."

In a broad international collaborative effort, the initial collaboration between the University of Utah and Duke investigators expanded to involve more than three dozen researchers from 13 countries. "This discovery is a testament to the power of the next-generation sequencing technologies, which are becoming increasingly available as a result of the Human Genome Project," says co-author Lynn Jorde, Ph.D., professor and chair of the U of U Department of Human Genetics. "These technologies are rapidly revolutionizing our ability to diagnose rare disorders, and provide hope for hundreds of families of children with rare disorders about which little is known and no targeted treatments currently exist."

###

Continue reading here:

Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood

Gene Mutations Identified as Cause of Most Cases of Rare Disorder–AHC

Newswise (SALT LAKE CITY)Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy. Unfortunately, medications that work for epilepsy have been unsuccessful in controlling the recurrent attacks of paralysis, leaving parents and physicians with few options, and significantly disabling those affected.

Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC. The study was published online on Sunday, July 29, 2012, in Nature Genetics.

In a collaborative effort with the AHC Foundation, Kathryn J. Swoboda, M.D., co-first author on the study, associate professor of neurology and pediatrics, and director of the Pediatric Motor Disorders Research Program at the University of Utah, established an international database of patients with AHC from around the world, starting with a single family nearly 14 years ago. This database now includes 200 affected individuals from more than a dozen countries. Access to clinical information and DNA samples from this database were critical to the success of the international collaboration that helped to identify the first gene causing AHC in a significant percentage of patients.

AHC is almost always a sporadic disease, which means that there is no family history of the disorder, says Tara Newcomb, genetic counselor, University of Utah Department of Neurology, and a co-author of the study. The rarity of the disease and the almost exclusively sporadic inheritance made AHC an ideal candidate for next-generation sequencing.

The mysterious and intermittent nature of the neurologic symptoms, which range from unusual eye movements to seizure-like episodes, to partial and/or full body paralysis often results in a prolonged diagnostic odyssey for parents and children, according to Matthew Sweney, M.D., an instructor in the U of U Departments of Neurology and Pediatrics and an epilepsy specialist at Primary Childrens Medical Center. Families often present again and again to the emergency room, and children may undergo dozens of tests and invasive procedures, says Sweney, also a study co-author. Often, it is only after the spells fail to respond to antiepileptic medications that the diagnosis is considered.

The ATP1A3 gene encodes one piece of a key transporter molecule that normally would move sodium and potassium ions across a channel between neurons (nerve cells) to regulate brain activity. Mutations in this gene are already known to cause another rare movement disorder, rapid onset dystonia parkinsonism, and clinical testing for mutations in this gene is readily available through a blood test. Having a means to confirm a diagnosis more quickly, using a simple blood test, will allow us to better care for our patients and provide them opportunities for early enrollment in clinical trials, Swoboda says. The identification of the gene provides scientists with the opportunity to identify specifically targeted and truly effective therapies.

In a broad international collaborative effort, the initial collaboration between the University of Utah and Duke investigators expanded to involve more than three dozen researchers from 13 countries. This discovery is a testament to the power of the next-generation sequencing technologies, which are becoming increasingly available as a result of the Human Genome Project, says co-author Lynn Jorde, Ph.D., professor and chair of the U of U Department of Human Genetics. These technologies are rapidly revolutionizing our ability to diagnose rare disorders, and provide hope for hundreds of families of children with rare disorders about which little is known and no targeted treatments currently exist.

Funding for the work at the University of Utah was provided by a grant from the Alternating Hemiplegia of Childhood Foundation (AHCkids.org). The Utah team also included former postdoctoral fellow Chad Huff, Ph.D., from the Department of Human Genetics, and Louis Viollet, M.D., Ph.D., and Sandra Reyna, M.D., from the Department of Neurology Pediatric Motor Disorders Research Program (https://medicine.utah.edu/neurology/research/swoboda).

Whole genome sequencing was performed in collaboration with the Institute for Systems Biology.

See the article here:

Gene Mutations Identified as Cause of Most Cases of Rare Disorder--AHC

American Society of Human Genetics to hold 2012 annual meeting, Nov. 6 to 10, in San Francisco

Public release date: 28-Jul-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org sciencematter@yahoo.com 858-243-1814 American Society of Human Genetics

The American Society of Human Genetics will hold its 62nd annual meeting, Tuesday to Saturday, Nov. 6 to 10, at San Francisco's Moscone Center.

Over 6,000 scientists, medical geneticists and genetic counselors are expected to attend the ASHG annual meeting, the world's largest scientific conference on human genetics.

"The ASHG annual meeting provides a forum for presenting the highest quality basic and translational science and the latest clinical information in human genetics, as well as nurturing scientific collaborations through networking" said ASHG Executive Vice President Joann Boughman, Ph.D.

Mary-Claire King, Ph.D., ASHG president and professor of genome sciences and medicine at University of Washington, Seattle, will kick-off the conference, Tuesday, Nov. 6, by speaking on the topic, "The Scientist as a Citizen of the World."

The meeting's closing symposium, Saturday, Nov. 10, will address, "Present and Future Directions for Human Genetics."

Topics of the ASHG meeting's invited scientific sessions, platform presentations and posters will include:

Speaking at the presidential symposium, "Gene Discovery and Patent Law: Present Experience in the U.S. and in Europe," will be: Lori B. Andrews, J.D., ITT Chicago-Kent College of Law, Hank Greely, J.D., Mark Lemley, J.D., Stanford Law School, and Gert Matthijs, Ph.D., Catholic University of Leuven, Belgium.

The annual meeting also will feature presentations of ASHG's annual awards and the Gruber Genetics Prize.

Follow this link:

American Society of Human Genetics to hold 2012 annual meeting, Nov. 6 to 10, in San Francisco

Health care on Pelee Island to be provided by VON

Pelee Island has found a permanent solution to its health care dilemma.

The Windsor-Essex chapter of the Victorian Order of Nurses has been chosen as the permanent health care provider to staff the Pelee Island nursing station and its 24/7 on-call nursing service.

The Erie St. Clair Local Health Integration Network made the announcement on Friday on the island. The nursing station will be open on weekdays from 8.30 a.m. to 4.30 p.m. (with a slightly different schedule possible on Wednesdays), 365 days a year. When the clinic is closed, nurses will be on-call, working in conjunction with paramedics.

Pelee Island found itself in a health care conundrum last summer when its full-time nurse, Marlene Pierce, retired. The LHIN established a task force to determine how to best serve the island. While it has a small population, questions remained about whether a nursing station was an adequate service for the island.

In the interim, the island had a hodgepodge of health care providers. The first was a combination of Leamington District Memorial Hospital staff who operated the clinic during the day while Pierce was lured out of retirement for a few months to provide after-hours care. After that, the Harrow Family Health Team stepped in to provide staff for the nursing station during daytime hours. The VON was brought on in January this year for a test-phase in which nurses worked on rotation to provide 24/7 care.

After an application process, the VON was selected to keep running the nursing station.

Andrew Ward, executive director for the Erie St. Clair VON, said that along with a team of three nurses working on rotation, two Windsor-based physicians, Dr. Albert Ng and Dr. Wayne Chan, will consult with the nurses by phone. As well, the nursing station is connected to the Ontario telemedicine network.

"It really widens the access to the residents of Pelee Island," Ward said.

He said in the evenings when the clinic is closed, residents who require care should call 911 and paramedics will determine whether to call in the nurse or take the patient to hospital on the mainland.

Copyright (c) The Windsor Star

Read the original here:

Health care on Pelee Island to be provided by VON

Penobscot Community Health Care joins effort to improve health of Medicare patients

BREWER, Maine Penobscot Community Health Care is the latest Maine health organization to join a national effort that rewards doctors for keeping their patients healthy and happy.

PCHC announced Monday that it will join Eastern Maine Healthcare Systems accountable care organization, a group of providers tasked with better coordinating treatment for seniors covered by Medicare and saving taxpayer money.

Under the model, formalized under the federal health reform law, doctors and hospitals that show they have improved Medicare patients health and satisfaction get a cut of any savings in the form of bonus payments. Providers that dont make the grade either forgo the extra money or pay a penalty.

You dont get any financial gain in an ACO unless the most important thing happens, which is you have to demonstrate that your patients are getting healthier and that theres a very high level of satisfaction by your patients, said Kenneth Schmidt, president and CEO of PCHC.

The new approach is designed to upend the existing system that pays health care providers based on the number of patients they see and the amount of services and procedures they order. The hope is that doctors, nurses and other providers will work together to keep better tabs on patients health.

PCHC is the only organization to join EMHS accountable care organization since the system, parent to Eastern Maine Medical Center in Bangor, announced late last year that it was among the nations first to adopt the new model. PCHC, a network of community health centers in Greater Bangor, is also the first of its kind in Maine to embrace the approach, according to EMHS.

A portion of PCHCs roughly 8,000 patients on Medicare, the federal health insurance program for senior citizens, will be enrolled in the accountable care organization, Schmidt said. PCHC serves close to 60,000 patients altogether, most of whom are seniors and lower income.

While the community health center joined the accountable care organization in June, Medicare patients wont officially take part until Jan. 1, 2013, he said. Patients can continue to see providers outside of the accountable care organization and can also opt out of sharing their personal information with the program.

While PCHC has already shifted toward less expensive and more effective preventive care, the new partnership with EMHS will improve care for chronically ill patients, such as by further reducing avoidable emergency room visits, said Dr. Robert Allen, PCHCs executive medical director. A patient with uncontrolled diabetes, for example, can check in with a nurse every day by phone or email to make sure blood levels stay in check, he said.

Three other Maine health groups announced a similar effort to improve care and cut costs for Medicare patients earlier in July.

See the original post:

Penobscot Community Health Care joins effort to improve health of Medicare patients

New Case Management Accreditation Raises the Bar in Care Coordination Evaluation

WASHINGTON--(BUSINESS WIRE)--

Today the National Committee for Quality Assurance (NCQA) released its new Case Management (CM) Accreditation program for organizations managing care for patients with complex health care and social needs. Already, three organizations will be the first to seek NCQA accreditation: Alere (www.alere.com), Monroe Plan for Medical Care (www.monroeplan.com) and OptumHealth Care Solutions (www.optumhealth.com).

Designed for case management programs in provider, payer or community-based organizations, NCQAs CM Accreditation ensures that patients with complex conditions receive effective, coordinated patient-centered services that lead to good outcomes. In becoming an NCQA-Accredited Case Management program, organizations make a clear statement that they are dedicated to providing personalized effective care- not just checking a box for another distinction.

NCQAs Case Management Accreditation:

Additionally, it is the only program that assesses quality during a patients transition between care settings. As patients health needs often fall through the cracks when they move from one setting to the next, effective case management can ensure continuity of critical services as patients travel through the system.

Case Management Accreditation moves us closer to measuring quality across population health management initiatives, said Margaret E. OKane, President, NCQA. Not only does it add value to existing quality improvement efforts; it also demonstrates an organizations commitment to the highest degree of improving the quality of their patients care.

Alere is delighted for the opportunity to become one of the first-adopters of NCQAs Case Management Accreditation, said Scott Schell, Executive Vice President and Chief Clinical Officer, Alere. Holistic case management solutions represent the ideal platform for optimally managing increasing complexities in patient care, multiple co-morbidities, complicating social and financial challenges, and multiple sites and providers of care delivery. Together these changes underscore the need for systematic evaluation of program effectiveness and expanded accreditation standards.

Joseph A. Stankaitis, Chief Medical Officer, Monroe Plan for Medical Care and NCQA Review Oversight Committee member noted, With the Affordable Care Act driving monumental changes in the healthcare delivery arena, Monroe Plan believes that achieving NCQA accreditation for case management would provide a greater degree of assurance for its regulators, partners, practices and communities by demonstrating that Monroe Plan has what it takes to provide optimal person-centered care.

OptumHealth Care Solutions Inc. is excited to be an early adopter of the Case Management Accreditation program. It is an opportunity to continue to showcase our commitment to the highest in quality standards, explained Margaux Frazee, Director of Enterprise Audit and Accreditation for OptumHealth Care Solutions, Inc.

Current NCQA-Accredited health plans or accountable care organizations and NCQA-Recognized patient-centered medical homes are eligible for automatic credit when they work with an NCQA-Accredited CM organization. Organizations can apply for accreditation and receive a three-year or two-year accreditation status based on performance against the standards.

Read more:

New Case Management Accreditation Raises the Bar in Care Coordination Evaluation