Only 61% of the eligible population in the USA gets screened for this common cancer, according to The Lancet.

Here are some excerpts from the new guidance for colorectal cancer screening by the American College of Physicians (ACP):

- colorectal cancer screening should start at the age of 50 years for people at average risk, and at 40 years (or 10 years before the age of the youngest case of colorectal cancer in a family) for people at high risk

- stool-based tests, flexible sigmoidoscopy, and optical colonoscopy are all acceptable screening options for people at average risk

- the gold standard—optical colonoscopy—is recommended for people at high risk

- screening should be stopped for adults aged over 75 years or who have a life expectancy of less than 10 years

Colorectal cancer screening can lead to harmful outcomes such as perforation, bleeding, and false-negative results.

10 Questions You Need to Ask About Colonoscopy

From The NYTimes:

1. Why is effective bowel preparation important?
2. How can I maximize my chance of an effective bowel preparation?
3. Are there certain medications I should stop taking before colonoscopy?
4. Are all colonoscopists equally effective at finding polyps and cancers during colonoscopy?
5. How can I be sure that my colonoscopist will do a careful examination?
6. How can I reduce the risk of a complication during colonoscopy?
7. Should I try colonoscopy without sedation?
8. If I undergo sedation, should it be given by an anesthesiologist?
9. Do all colonoscopists follow the same rules to determine when my colonoscopy should be repeated?
10. Why aren’t the problems with the delivery of colonoscopy already solved?

Questions # 1, 2, 3, 6, 7 are very important, question # 10 probably not so much.

17% of U.S. hospitals now provide virtual colonoscopy

Medicare does not currently reimburse routine screening with virtual colonoscopy, but it does cover evaluations with "regular" colonoscopy.

References:

New guidance for colorectal cancer screening. The Lancet, Volume 379, Issue 9820, Page 978, 17 March 2012.
Virtual Colonoscopy Gains in Popularity. Is It Right for You? TIME.
Colonoscopy Developer Dies at 94 - NYTimes http://goo.gl/iBnOp - Dr. Wolff was unconventional and surely made headlines in his day.
When President Obama underwent his first-ever colon cancer screening last year, he chose virtual colonoscopy. USA Today.
Cleveland Clinic Colorectal Cancer Risk Assessment Tool. Get your score in 2 minutes (free).
Image source: Colon (anatomy), Wikipedia, public domain.

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At any moment, there is "an electrical storm" coursing through your body. Discover how chemical reactions create an electric current that drives our responses to everything in this 5-minute video:

Read more and customize this lesson at TED-Ed website: http://ed.ted.com/lessons/how-do-nerves-work

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PHILADELPHIA - The Philadelphia Eagles today announced they will be collaborating with the Child Neurology Foundation (CNF) to sponsor a program for first and second-year students from the six regional medical schools in the Delaware Valley. The programpromotes the neurological specialty, which cares for the one-in-four children who face problems that affect the developing nervous system. Students will have the opportunity to hear directly from child neurologists as well as families who can describe their personal experiences. This marks the third time that the Eagles and CNF have partnered together.

The students will visit Eagles training camp on Sunday, August 12thand will have an opportunity to meet Eagles players, including Mike Patterson, following afternoon practice. "This is an exciting way to expose students to a rewarding field that they might not have otherwise considered," remarked CNF president Dr. Lawrence Brown. "Though our doctors are heroes, it still helps to have the drawing power of the Eagles to fill our VIP tent."

The Child Neurology Foundation supports research and provides information, education, and advocacy for child neurologists, other medical professionals, patients, parents, and member-groups that deal with an array of neurologic conditions, towards the treatment and care of the 18 Million Children (one in four) throughout North America who experience neurologic disorders, including autism; cerebral palsy; epilepsy; migraine; ADHD; and hundreds of other disorders affecting the developing nervous system.

More here:
Eagles Host Child Neurology Foundation at Training Camp

By Fiachra Cionnaith

Friday, August 10, 2012

Almost 17,000 people including heart, orthopaedics, kidney, neurology, and cancer patients have been waiting over four years for an initial hospital consultant outpatient appointment.

HSE figures show that, despite repeated ministerial promises to resolve the delays, the long-term treatment backlogs are continuing across a range of vital specialities in the system.

Leading medical website irishhealth.com has revealed that, of the 351,000 people on outpatient lists, 117,000 are still waiting more than a year to be seen for the first time by a hospital consultant.

Of this figure, 16,903 are waiting as long as four years across all hospitals in the country.

This is despite the fact that Health Minister James Reilly is bidding to finally address lengthy waiting times for vital hospital treatment via his special delivery unit team.

While the above delays are lengthy, for patients facing the extensive waits, the queue for accessing care does not end when they are finally seen.

An initial outpatient hospital consultant appointment is generally considered to be a waiting list to get on to a second waiting list for more specialised care.

As such, the actual wait for specialised care is longer than the initial outpatient hospital consultant appointments.

Read the original post:
17,000 waiting over four years to see consultant

Public release date: 8-Aug-2012 [ | E-mail | Share ]

Contact: Angela Babb, APR ababb@aan.com 612-928-6102 American Academy of Neurology

MINNEAPOLIS Just one week of speech therapy may reorganize the brain, helping to reduce stuttering, according to a study published in the August 8, 2012, online issue of Neurology, the medical journal of the American Academy of Neurology.

The Chinese study gives researchers new insights into the role of different brain regions in stuttering, which affects about one percent of adults.

The study involved 28 people with stuttering and 13 people who did not stutter. Fifteen of the people with stuttering received a week of therapy with three sessions per day. The other stutterers and the controls received no therapy. Therapy involved the participants repeating two-syllable words that were spoken to them and then reading words presented to them visually. There was no time limit in either task. The average scores on stuttering tests and percent of stuttered syllables improved for those who received the therapy. There was no change in scores for the stutterers who did not receive therapy.

Brain scans were used to measure the thickness of the cerebral cortex in the brain for all participants at the beginning and end of the study. They also measured the interactions between areas of the brain while at rest, called resting state functional connectivity. Thickness and strength of interactions was reduced in an area of the brain important in speech and language production called the pars opercularis for those with stuttering compared to the controls. Increased strength of interactions was found in the cerebellum for those with stuttering compared to the controls.

For those who received the therapy, the functional connectivity in the cerebellum was reduced to the same level as that of the controls. There was no change in the pars opercularis area of the brain.

"These results show that the brain can reorganize itself with therapy, and that changes in the cerebellum are a result of the brain compensating for stuttering," said study author Chunming Lu, PhD, of Beijing Normal University in China. "They also provide evidence that the structure of the pars opercularis area of the brain is altered in people with stuttering."

Christian A. Kell, MD, of Goethe University in Frankfurt, Germany, who wrote an editorial accompanying the study, said, "These findings should further motivate therapists and researchers in their efforts to determine how therapy works to reorganize the brain and reduce stuttering."

###

Link:
Study: One week of therapy may help reorganize brain, reduce stuttering

Washington, Aug. 7:

Its all in the family? According to new research, fainting has a strong genetic predisposition.

Researchers from the American Academy of Neurology found that fainting has a strong genetic component and it could be inherited but not usually by a single gene.

Fainting, also called vasovagal syncope, is a brief loss of consciousness when your body reacts to certain triggers, such as emotional distress or the sight of blood.

The question of whether fainting is caused by genetic factors, environmental factors or a mixture of both has been the subject of debate, said study author Samuel F. Berkovic from the University of Melbourne in Victoria, Australia, and a member of the American Academy of Neurology.

Our results suggest that while fainting appears to have a strong genetic component, there may be multiple genes and multiple environmental factors that influence the phenomenon, Berkovic said in a statement.

For the study, 51 sets of twins of the same gender between the ages of nine and 69 were given a telephone questionnaire.

At least one of the twins had a history of fainting.

Researchers also gathered information about any family history of fainting. Of the 51 sets of twins, 57 per cent reported having typical fainting triggers.

The research found that among twins where one fainted, those who were identical (from the same fertilised egg) were nearly twice as likely to both faint compared to fraternal twins (those from two different fertilised eggs).

Visit link:
Fainting linked to genetic factors: study

Newswise MINNEAPOLIS Just one week of speech therapy may reorganize the brain, helping to reduce stuttering, according to a study published in the August 8, 2012, online issue of Neurology, the medical journal of the American Academy of Neurology.

The Chinese study gives researchers new insights into the role of different brain regions in stuttering, which affects about one percent of adults.

The study involved 28 people with stuttering and 13 people who did not stutter. Fifteen of the people with stuttering received a week of therapy with three sessions per day. The other stutterers and the controls received no therapy. Therapy involved the participants repeating two-syllable words that were spoken to them and then reading words presented to them visually. There was no time limit in either task. The average scores on stuttering tests and percent of stuttered syllables improved for those who received the therapy. There was no change in scores for the stutterers who did not receive therapy.

Brain scans were used to measure the thickness of the cerebral cortex in the brain for all participants at the beginning and end of the study. They also measured the interactions between areas of the brain while at rest, called resting state functional connectivity. Thickness and strength of interactions was reduced in an area of the brain important in speech and language production called the pars opercularis for those with stuttering compared to the controls. Increased strength of interactions was found in the cerebellum for those with stuttering compared to the controls.

For those who received the therapy, the functional connectivity in the cerebellum was reduced to the same level as that of the controls. There was no change in the pars opercularis area of the brain.

These results show that the brain can reorganize itself with therapy, and that changes in the cerebellum are a result of the brain compensating for stuttering, said study author Chunming Lu, PhD, of Beijing Normal University in China. They also provide evidence that the structure of the pars opercularis area of the brain is altered in people with stuttering.

Christian A. Kell, MD, of Goethe University in Frankfurt, Germany, who wrote an editorial accompanying the study, said, These findings should further motivate therapists and researchers in their efforts to determine how therapy works to reorganize the brain and reduce stuttering.

The study was supported by the National Natural Science Foundation of China.

To learn more about stuttering, visit http://www.aan.com/patients.

The American Academy of Neurology, an association of more than 25,000 neurologists and neuroscience professionals, is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimers disease, stroke, migraine, multiple sclerosis, brain injury, Parkinsons disease and epilepsy.

See the article here:
One Week of Therapy May Help Reorganize Brain, Reduce Stuttering

From the NHS Choices YouTube channel: A psychiatrist explains the motivation behind Munchausen's syndrome, also known as factitious illness, where someone pretends to be ill or causes symptoms in themselves. This can include inflicting wounds or tampering with blood and urine samples. He also explains the importance of getting treatment and describes another form of the condition where a person fabricates an illness in someone in their care (Munchausen's syndrome by proxy):

Comments from Twitter:

Julie Meadows-Keefe @esq140: Fascinatingly & disturbingly real.

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Here are my suggestions for some of the top articles in medicine for July-August 2012:

Where are you on the global fat scale? BBC calculator: http://goo.gl/ZnI6D

Drug cheating at the Olympics: who, what, and why? 7% of elite athletes admitted to doping ~ 1000 people at each Games http://bit.ly/Mcc1bz

Risk of pneumonia decreased with use of angiotensin converting enzyme (ACE) inhibitors - BMJ meta-analysis http://goo.gl/dE9Ks

One Doctor’s Prescription to Avoid Social Media Overload http://goo.gl/bdtPU

Cents and Sensitivity - Teaching Physicians to Think about Costs - NEJM http://goo.gl/aUQE3

How fat is fat? The Lancet compares CTs with visceral fat vs. subcutaneous fat deposits http://goo.gl/iO9sa

Increasing contraceptive use in developing countries has cut the number of maternal deaths by 40% - The Lancet http://goo.gl/hHjIO

Qsymia is the second new drug for obesity approved by the FDA in the last month, after Belviq http://goo.gl/wCqi7

Mass General knocks Johns Hopkins out of the top hospital spot it's held for 21 years, while at the same time Cleveland Clinic is closing in on Mayo Clinic - U.S. News & World Report's 2012 list of the best U.S. hospitals http://goo.gl/URpei

Feedback of DNA based risk assessments does not motivate behaviour change - BMJ http://goo.gl/3HaRy

The articles were selected from my Twitter and Google Reader streams. Please feel free to send suggestions for articles to clinicalcases@gmail.com and you will receive acknowledgement in the next edition of this publication.

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Public release date: 6-Aug-2012 [ | E-mail | Share ]

Contact: Angela Babb ababb@aan.com 612-928-6102 American Academy of Neurology

MINNEAPOLIS Fainting has a strong genetic predisposition, according to new research published in the August 7, 2012, print issue of Neurology, the medical journal of the American Academy of Neurology. Fainting, also called vasovagal syncope, is a brief loss of consciousness when your body reacts to certain triggers, such as emotional distress or the sight of blood.

"The question of whether fainting is caused by genetic factors, environmental factors or a mixture of both has been the subject of debate," said study author Samuel F. Berkovic, MD, FRS, with the University of Melbourne in Victoria, Australia, and a member of the American Academy of Neurology.

For the study, 51 sets of twins of the same gender between the ages of nine and 69 were given a telephone questionnaire. At least one of the twins had a history of fainting. Researchers also gathered information about any family history of fainting. Of the 51 sets of twins, 57 percent reported having typical fainting triggers.

The research found that among twins where one fainted, those who were identical (from the same fertilized egg) were nearly twice as likely to both faint compared to fraternal twins (those from two different fertilized eggs). The risk of fainting not related to outside factors (such as dehydration) was also much higher in identical twins compared to fraternal twins. Identical twins were much more likely to both experience fainting associated with typical triggers than fraternal twins. The frequency of fainting in non-twin relatives was low, suggesting that the way fainting is inherited is usually not by a single gene.

"Our results suggest that while fainting appears to have a strong genetic component, there may be multiple genes and multiple environmental factors that influence the phenomenon," said Berkovic.

###

The study was supported by the National Health and Medical Research Council Australia.

To learn more about fainting, visit http://www.aan.com/patients.

Read more:
Fainting: All in the family?

August 3, 2012

Connie K. Ho for redOrbit.com Your Universe Online

Coffee lovers take note: coffee may have health benefits related to Parkinsons disease. A new study examined the influence coffee has on the disorder. Based on the results, researchers believe that coffee can help control movement, easing the symptoms of Parkinsons. The findings are featured in the online issue of Neurology, a journal of the American Academy of Neurology.

Studies have shown that people who use caffeine are less likely to develop Parkinsons disease, but this is one of the first studies in humans to show that caffeine can help with movement symptoms for people who already have the disease, explained study author Dr. Ronald Postuma, a member of the American Academy of Neurology and a researcher at the Researchers Institute of the McGill University Health Center, in a prepared statement.

In the study, 61 participants who showed symptoms of Parkinsons disease, such as daytime sleepiness, were split into two groups. One group took a placebo and the other group took a pill with 100 milligrams of caffeine twice a day for three weeks then 200 milligrams twice a day for three weeks. The second group consumed the equivalent of caffeine from two to four cups per day.

Following a six-week exam period, the group that was given caffeine supplements showed a five-point average in improvement in Parkinsons severity rating as compared to participants who were given the placebo.

This is a modest improvement, but may be enough to provide benefit to patients. On the other hand, it may not be sufficient to explain the relationship between caffeine non-use and Parkinsons, since studies of the progression of Parkinsons symptoms early in the disease suggest that a five-point reduction would delay diagnosis by only six months, noted Postuma in the statement.

The group that took caffeine also showed an average of three-point improvement in body stiffness and body movement as compared to those who were in the placebo group.

The people who received caffeine supplements experienced an improvement in their motor symptoms (a five-point improvement on the Unified Parkinsons Disease Rating Scale, a rating scale used to measure the severity of the disease) over those who received the placebo, suggested Postuma in the statement. This was due to improvement in speed of movement and a reduction in stiffness.

However, caffeine did not positively improve daytime sleepiness, depression, or quality of life in the participants; its also important to take note that, as the study was done in a short amount of time, the influence of caffeine may decrease over time.

Follow this link:
Coffee May Help Control Symptoms Of Parkinson's Disease

From TED Education series, Jun 26, 2012: Some people take aspirin or ibuprofen to treat everyday aches and pains, but how exactly do the different classes of pain relievers work? Learn about the basic physiology of how humans experience pain, and the mechanics of the medicines we've invented to block or circumvent that discomfort.

Lesson by George Zaidan, animated by Augenblick Studios.

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Public release date: 1-Aug-2012 [ | E-mail | Share ]

Contact: Rachel Seroka rseroka@aan.com 612-928-6102 American Academy of Neurology

MINNEAPOLIS While drinking caffeine each day does not appear to help improve sleepiness among people with Parkinson's disease, it may have a benefit in controlling movement, according to new research published in the August 1, 2012, online issue of Neurology, the medical journal of the American Academy of Neurology .

"Studies have shown that people who use caffeine are less likely to develop Parkinson's disease, but this is one of the first studies in humans to show that caffeine can help with movement symptoms for people who already have the disease," said study author Ronald Postuma, MD, MSc, with McGill University in Montreal and the Research Institute of the McGill University Health Center. Postuma is also a member of the American Academy of Neurology.

For the study, 61 people with Parkinson's disease who showed symptoms of daytime sleepiness and some motor symptoms were given either a placebo pill or a pill with 100 milligrams of caffeine two times a day for three weeks, then 200 milligrams twice a day for three weeks, which was the equivalent of between two and four cups of coffee per day.

After six weeks, the half that took the caffeine supplements averaged a five-point improvement in Parkinson's severity ratings compared to those who didn't consume caffeine. "This is a modest improvement, but may be enough to provide benefit to patients. On the other hand, it may not be sufficient to explain the relationship between caffeine non-use and Parkinson's, since studies of the progression of Parkinson's symptoms early in the disease suggest that a five-point reduction would delay diagnosis by only six months," said Postuma.

The caffeine group also averaged a three-point improvement in the speed of movement and amount of stiffness compared to the placebo group. Caffeine did not appear to help improve daytime sleepiness and there were no changes in quality of life, depression or sleep quality in study participants.

"The study is especially interesting since caffeine seems to block a malfunctioning brain signal in Parkinson's disease and is so safe and inexpensive," said Michael Schwarzschild, MD, PhD, of Massachusetts General Hospital in Boston, who wrote an accompanying editorial. "Although the results do not suggest that caffeine should be used as a treatment in Parkinson's disease, they can be taken into consideration when people with Parkinson's are discussing their caffeine use with their neurologist." Schwarzschild is also a member of the American Academy of Neurology.

The study authors noted that the length of the study was short and that the effects of caffeine may lessen over time.

###

More here:
A cup of joe may help some Parkinson's disease symptoms

Public release date: 1-Aug-2012 [ | E-mail | Share ]

Contact: Julie Robert julie.robert@muhc.mcgill.ca 514-934-1934 x71381 McGill University Health Centre

Montreal, August 1, 2012 Caffeine, which is widely consumed around the world in coffee, tea and soft drinks, may help control movement in people suffering from Parkinson's. This is the finding of a study conducted at the Research Institute of the McGill University Health Centre (RI MUHC) that was recently published in Neurology, the official journal of the American Academy of Neurology. The study opens the door to new treatment options for Parkinson's disease that affects approximately 100 000 Canadians.

"This is one of the first studies to show the benefits of caffeine on motor impairment in people who have Parkinson's disease," stated Dr. Ronald Postuma, lead author of the study, a researcher in neurosciences at the RI MUHC, and Professor of Medicine in the Department of Neurology and Neurosurgery at McGill University. "Research has already shown that people who drink coffee have a lower risk of developing Parkinson's disease, but until now no study had looked at the immediate clinical implications of this finding."

Caffeineone of the most widely used psychomotor stimulants in the worldit acts on the central nervous system and cardiovascular system by temporarily decreasing tiredness and increasing alertness. According to Dr. Postuma, sleepiness is commonly associated with Parkinson's disease. "We wanted to discover how caffeine could impact sleepiness as well as the motor symptoms of Parkinson's disease, such as slowness of movement, muscle stiffness, shaking and loss of balance."

The researchers followed a group of 61 people with Parkinson's. While the control group received a placebo pill, the other group received a 100 mg dose of caffeine twice a day for three weeks and then 200 mg twice a day for another three weeks.

"The people who received caffeine supplements experienced an improvement in their motor symptoms (a five-point improvement on the Unified Parkinson's Disease Rating Scale, a rating scale used to measure the severity of the disease) over those who received the placebo," said Dr. Postuma. "This was due to improvement in speed of movement and a reduction in stiffness." Caffeine had only borderline effects on sleepiness, and did not affect depression or nighttime sleep quality in the study participants.

Larger-scale studies need to be carried out over a longer period to clarify these caffeine-related improvements. "Caffeine should be explored as a treatment option for Parkinson's disease. It may be useful as a supplement to medication and could therefore help reduce patient dosages," concluded Dr. Postuma.

###

Funding

Go here to see the original:
Caffeine may ease Parkinson's symptoms

97% of shoppers admit they never wash their reusable grocery bags. Dr. Susan Rehm from Cleveland Clinic talks about avoiding illness from contaminated grocery bags:

Another video: Viruses and Bacteria In Reusable Grocery Bags, from a local TV station, KOBITV:

Comments from Twitter:

SwoodLady @SwoodLady: Always something! RT @DrVes: Warning: Your reusable grocery bags can become contaminated with bacteria goo.gl/fb/sDOMs

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Could not connect to DB: 1040: Too many connectionsCould not execute 'UPDATE pressrelease SET r_hits = r_hits+ 1, r_total_hits = r_total_hits+ 1, r_pub_hits = r_pub_hits+ 1, r_total_pub_hits = r_total_pub_hits+ 1 WHERE r_id = 217952' on database eurekalert: 2002: Can't connect to local MySQL server through socket '/tmp/mysql.sock' (2) 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."

###

Read more from the original source:
Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood

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.

Go here to read the rest:
Gene Mutations Identified as Cause of Most Cases of Rare Disorder--AHC

A decade ago celiac disease was considered extremely rare outside Europe and, therefore, was almost completely ignored by health care professionals.

In only 10 years, key milestones have moved celiac disease from obscurity into the popular spotlight worldwide.

Now we are observing another interesting phenomenon that is generating great confusion among health care professionals. The number of individuals embracing a gluten-free diet (GFD) appears much higher than the projected number of celiac disease patients, fueling a global market of gluten-free products approaching $2.5 billion (US) in global sales in 2010.

This trend is supported by the notion that, along with celiac disease, other conditions related to the ingestion of gluten have emerged as health care concerns.

This review summarized the current knowledge about the 3 main forms of gluten reactions:

- allergic (wheat allergy)
- autoimmune (celiac disease, dermatitis herpetiformis and gluten ataxia)
- possibly immune-mediated (gluten sensitivity)

New nomenclature and classifications are proposed (see the figures below).

Key figures:

New nomenclature and classification of gluten-related disorders - http://www.biomedcentral.com/1741-7015/10/13/figure/F1

Algorithm for the differential diagnosis of gluten-related disorders, including celiac disease, gluten sensitivity and wheat allergy - http://www.biomedcentral.com/1741-7015/10/13/figure/F4

3 million Americans are living with celiac disease

Celiac disease, an immune system reaction to gluten in the diet, is four times as common today as it was 50 years ago. Lack of awareness of celiac could be contributing to a delay of up to 11 years in diagnosis of adults in North America (http://goo.gl/sy778).

This is an informative and beautifully designed video by the University of Chicago Celiac Disease Center. It looks like an infographic made into video - have a look:

New classification is being proposed for gluten-related disorders: celiac disease; dermatitis herpetiformis; gluten ataxia; wheat allergy; gluten sensitivity. WSJ, 2012.

Recent studies support the existence of the new condition nonceliac gluten sensitivity which is defined as symptoms with negative celiac antibodies and biopsy (http://goo.gl/57IlB).

References:

Spectrum of gluten-related disorders: consensus on new nomenclature and classification. Anna Sapone et al. BMC Medicine 2012, 10:13 doi:10.1186/1741-7015-10-13.
Image source: Colon (anatomy), Wikipedia, public domain.
Disclaimer: I am an Assistant Professor of Medicine and Pediatrics at University of Chicago.

Comments from Twitter:

Karen Price @brookmanknight: reflects well what we see in clinical practice, though haven't seen or dx'd too much derm herpetiformis.

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From CBS News:

Dr. Jay Parkinson is trying to change healthcare business with Sherpaa. The company gives 24/7 phone and email access to a group of doctors in New York City. "You can call or email and 70 percent of the time," Parkinson said. "We will solve that problem over email or on the phone."

For example, if you've suffered a nasty cut, you snap a picture, email it to Sherpaa, and a doctor will respond immediately with instructions. If you need stitches, Sherpaa will schedule a same-day appointment with one of the 100 specialist they work with. That could cut out the expense, and long wait on average more than four hours of a visit to the emergency room. Parkinson said instead of getting charged $4,000, it could be a $1,000 charge.

Sherpaa doesn't replace health insurance, but instead works to weed out inefficiencies, while offering a kind of everyman's concierge service. Companies like Tumblr pay about $1,000 a year per employee.

References:

Doctor's company reimagines health care delivery - CBS News http://goo.gl/DLXUd

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Lee Memorial Health System is pleased to announce the following physicians joined our medical staff during the month of June:

- Amanda J. Avila, M.D. Neurology obtained her medical degree at the University of Vermont College of Medicine. She completed an Internal Medicine Internship and Neurology Residency at Rhode Island Hospital and a Movement Disorder Fellowship at the University of Florida. She is certified in Neurology by the American Board of Psychiatry and Neurology and has joined Florida Neurology Group.

- Alfonso Garcia-Bello, M.D. Internal Medicine obtained his medical degree at The Higher Institute of Medical Sciences of Havana. He completed an Internal Medicine Residency at Bronx Lebanon Hospital Center. Dr. Garcia-Bello has joined Cape Coral Hospitalists.

- Douglas J. Gottschalk, D.O. Pediatric Otolaryngology obtained his degree at Des Moines University of Osteopathic Medicine. He completed a General Surgery Internship at Via Christi Riverside Medical Center, A Surgery Residency at Wilford Hall USAF Medical Center, Lackland AFB and a Pediatric Otolaryngology Fellowship at Arkansas Children's Hospital. Dr. Gottschalk is certified by the American Board of Otolaryngology and has joined Lee Physician Group.

- Cindy J. Harris, D.O. Family Practice obtained her degree at the University of New England. She completed a Rotating Internship and Family Medicine Residency at Wilson Memorial Regional Medical Center. She is certified by the American Board of Family Medicine and has joined Hope HealthCare.

- Alejandro J. Miranda-Sousa, M.D. Urology obtained his medical degree at the University Peruana Cayetano Heredia. He completed a General Surgery Internship, Urology Residency and Neurourology & Urodynamics Fellowship at the University of South Florida. Dr. Miranda-Sousa is certified by the American Board of Urology and has joined Gulfstream Urology.

- Houtan Sareh, M.D. Pulmonary Medicine obtained his medical degree at the University of Miami School of Medicine. He completed an Internal Medicine/Pediatric Internship and Internal Medicine Residency at the University of Miami-Jackson Memorial Hospital; a Sleep Medicine Fellowship at Mount Sinai medical Center and a Pulmonary Medicine/Critical Care Fellowship at the University of Maryland Medical Center. Dr. Sareh is certified by the American Board of Internal Medicine in Internal Medicine, Pulmonary Disease and Sleep Medicine and has joined LPG Pulmonary, Critical Care and Sleep Medicine.

- Jennifer A. Springer, M.D. Emergency Medicine obtained her medical degree at Temple University School of Medicine. She completed an Emergency Medicine Residency at the Medical College of Pennsylvania. She is certified by the American Board of Emergency Medicine and has joined Lee Convenient Care.

- Leonid B. Trost, M.D. Dermatology obtained his medical degree at Ohio State University. He completed a Dermatology Residency and Mohs Surgery Fellowship at Cleveland Clinic. Dr. Trost is certified by the American Board of Dermatology and is a solo practitioner.

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Physicians join Lee Memorial Health System medical staff