Category Archives: Neurology

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

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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."

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

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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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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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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Unipolar depressive disorder in adolescence is common worldwide but often unrecognised. The incidence, notably in girls, rises sharply after puberty and, by the end of adolescence, the 1 year prevalence rate exceeds 4%.

The burden of depression is highest in low-income and middle-income countries. Depression is associated with morbidity, and heightens suicide risk.

The strongest risk factors for depression in adolescents are:

- family history of depression
- exposure to psychosocial stress

Factors that interact to increase risk through hormonal and perturbed neural pathways include:

- inherited risks
- developmental factors
- sex hormones
- psychosocial adversity

References:

Depression in adolescence. Prof Anita Thapar et al. The Lancet, Volume 379, Issue 9820, Pages 1056 - 1067, 17 March 2012.

Image source: OpenClipArt.org

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