Scientists Develop A New Diagnostic Approach For Carriers Of Recessive Genetic Disorders

July 05, 2006

Scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania have developed a new approach for the diagnosis of medical disorders that are inherited in a recessive manner. Their method is based on identifying subtle but distinct differences in genome-wide expression profiles using microarray technology. An article describing the approach appears online this week in the journal Genome Research. [Medical News Today]

Intensive Support Programmes Benefit Parents Of Children With Rare Diseases

February 28, 2006

Intensive support programmes can help parents of children with rare diseases reduce their stress levels and improve their quality of life, according to research published in the latest Journal of Advanced Nursing.

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth Disease

January 03, 2006

Weimer LH, Podwall D.

Department of Neurology, Columbia University College of Physicians and Surgeons, The Neurological Institute, 710 West 168th Street, Unit 55, New York, NY 10032, USA.

Toxin or medication-induced worsening of preexisting peripheral neuropathy is a generally accepted but not well-studied phenomenon in humans. Drug-induced exacerbation of Charcot Marie Tooth disease (CMT) neuropathy is a common concern; a list of potential drugs to avoid is maintained by the CMT Association but with limited direct evidence or advice on relative risk. An extensive literature search for reported cases of drug effects in CMT patients found the vast majority concerned excessive vincristine toxicity in patients with undiagnosed demyelinating forms of CMT, many after 1 or 2 doses. The CMT North American database was also queried for all drug-related effects. All but one drug cited as worsening neuropathy was present on a compiled inclusive list. These results and other available evidence were used to develop a revised risk stratified list for CMT patients and clinicians to consult prior to discussing risk to benefit ratios and making treatment decisions.

Alternatives to endotracheal intubation for patients with neuromuscular diseases

November 14, 2005

Servera E, Sancho J, Zafra MJ, Catala A, Vergara P, Marin J: Alternatives to endotracheal intubation for patients with neuromuscular diseases. Am J Phys Med Rehabil 2005;84:851-857.

OBJECTIVE:: To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease. DESIGN:: We conducted a prospective cohort study at the respiratory medicine ward of a university hospital to study the success rate of the use of continuous noninvasive mechanical ventilation and manually and mechanically (CoughAssist) assisted coughing to avert endotracheal intubation in 24 consecutive episodes of acute respiratory failure for 17 patients with neuromuscular disease. The noninvasive mechanical ventilation and coughing aids were used to reverse decreases in oxyhemoglobin saturation and relieve respiratory distress that occurred despite oxygen therapy and appropriate medication. Noninvasive mechanical ventilation was delivered by volume ventilators (Breas PV 501) alternating nasal/oronasal and oral interfaces.

RESULTS:: Noninvasive management was successful in averting death and endotracheal intubation in 79.2% of the acute episodes. There were no significant differences in respiratory function between the successfully treated and unsuccessfully treated groups before the current episode. Bulbar dysfunction was the independent risk factor for failure of noninvasive treatment (P < 0.05; odds ratio, 35.99%; 95% confidence interval, 1.71-757.68).

CONCLUSIONS:: Intubation can be avoided for some patients with neuromuscular disease in acute respiratory failure by some combination of noninvasive mechanical ventilation and mechanically assisted coughing. Severe bulbar involvement can limit the effectiveness of noninvasive management. [Read more]

Site helps uninsured find health coverage

May 25, 2005

Condensed from The Arizona Republic:

The National Association of Health Underwriters has rolled out an Internet site that provides state-by-state information on coverage options for many situations - including job changers, high-risk people unable to obtain traditional insurance and the poor.

The new site, www.nahu.org/consumer/healthcare, is helpful to a computer savvy consumer who understands insurance terms. That's especially the case if it is used in conjunction with other Internet sites that provide price quotes on individual policies and the consumer health insurance information.

Every three years an average of one in four adults loses employer-based health coverage - at least temporarily - because of a job change, an employer's bankruptcy or another life event such as early retirement or a divorce, according to Georgetown University's Health Policy Institute.

For people with pre-existing health problems, the new Web site lists the 32 states that have high-risk pools.... and a state-by-state list of health programs for the poor such as Medicaid and the federally subsidized State Children's Health Insurance Program.

Revised list of contraindicated drugs

March 19, 2005

The Charcot-Marie-Tooth Association has released a revised list of drugs contraindicated for people with CMT. It is available as a PDF for printing, and will shortly be made available on this site's Contraindicated Drugs page.

Though this list was researched and prepared for people with CMT in general and not the Dejerine-Sottas subtype in particular, the drugs on this list are there because they can cause additional damage to the peripheral nerves. Be sure that your doctor includes this list in your chart.

New Patient Magazine from American Academy of Neurology to Launch in April

March 02, 2005

Why would the leading international professional association of neurologists get into the business of publishing a magazine ­ Neurology Now ­ for patients and their caregivers?

Patients are overwhelmed and confused by the barrage of inaccurate information from unreliable sources. Neurology patients and their families are also often overwhelmed ­ and their physicians hard-pressed ­ to put the avalanche of new information in proper perspective.

For these and other reasons, the American Academy of Neurology (AAN) is launching Neurology Now in April. The premier issue will be supported by a special promotional launch during the AAN’s 57th Annual Meeting, held April 9 to 16 in Miami Beach. The magazine will be available to patients in the waiting rooms of neurologists across the United States and also by subscription for home delivery.

In focus groups sponsored by the AAN, neurologists said they needed more time and effort spent on patient education and public awareness. Neurology Now was developed in response to this need, and it will report on the latest advances in research and treatment in easy-to-read language.

“Readers can expect a health magazine that has integrity, accuracy, and balance,” said Robin L. Brey, MD, the editor-in-chief of the magazine. “Neurology Now will also foster greater energy for advocacy efforts on behalf of neurology patients.”

The premier issue will feature a cover story about actress Teri Garr who has been living with MS for several years. Each quarterly issue will highlight the latest advances in neurology research and treatment. Articles will provide tips for living and coping with disorders including Alzheimer’s disease, epilepsy, migraine, multiple sclerosis, neuropathy, Parkinson’s disease, and stroke, among other conditions.

“Family and friends are impacted significantly when someone they love has a neurological disorder, and Neurology Now will address these effects in each issue,” said Dr. Brey.

For more information about Neurology Now, visit neurologynow.com. In addition to Neurology Now, the AAN offers a book series, Patient Pages in the scientific journal Neurology, brochures, and thebrainmatters.org for patients and caregivers.

Neurology Now is published in cooperation with Lippincott Williams & Wilkins, which also publishes the leading twice-monthly scientific journal Neurology and a monthly newspaper for AAN members, Neurology Today.