18 may have been exposed to incurable disease

Reblogged from CNN.com

(CNN) — Doctors and hospital officials from Novant Health Forsyth Medical Center in Winston-Salem, North Carolina, are notifying 18 neurosurgery patients that they might have been exposed to Creutzfeldt-Jakob disease, a serious and incurable neurological disorder.

“Today we are reaching out to 18 neurosurgery patients who were exposed to Creutzfeldt-Jakob disease over the last three weeks at Forsyth Medical Center,” said Jeff Lindsay, president of the center, according to CNN affiliate WGHP.

The hospital is in the process of contacting the 18 people, spokeswoman Jeanne Mayer said Tuesday. She was not sure how many had been reached.

According to the National Institute of Neurological Disorders and Stroke, CJD affects about one person in every 1 million people per year worldwide.
Gupta: Disease takes years to develop

“It is important to note that there are multiple variations of CJD and this case is not related to mad cow disease,” Novant Health said in a statement.

The hospital confirmed that on January 18, an operation was performed on a patient with CJD symptoms who later tested positive for the illness.

Even though the surgical instruments were sterilized by standard hospital procedures, they should have gone through enhanced sterilization procedures used when there are confirmed or suspected cases of CJD.

The original patient “had neurological symptoms that could have been attributed to CJD or another brain disease,” Novant Health said. “There were reasons to suspect that this patient might have had CJD. As such, the extra precautions should have been taken, but were not.”

The Centers for Disease Control and Prevention, as well as the World Health Organization, recommends that surgical equipment used on CJD patients be destroyed or decontaminated through an intense disinfecting process.

Although CJD can be transferred through surgical equipment, hospital officials say the likelihood of these patients contracting the disease is very low.

The CDC corroborates that assessment.

It says that no cases of the disease have been linked to the use of contaminated medical equipment since 1976.

But Lindsay made no excuses.

“On behalf of the entire team at Novant Health, I apologize to the patients and their families, for having caused this anxiety.”

CJD is a rare, degenerative and fatal brain disorder, according to the National Institutes of Health. It’s characterized by rapid, progressive dementia. Initial symptoms can include problems with muscular coordination, personality changes including impaired memory and thinking; and impaired vision.

CJD is believed to be caused by a type of protein called a prion. It can be sporadic, hereditary or acquired; the acquired type is the rarest form, according to the NIH, and seen in fewer than 1% of cases. It is not contagious through casual contact.

Asked whether the 18 people would be tested, Mayer said there is no quick test for CJD. The original patient underwent brain surgery and then the disease was found through a number of tests afterward, she said. In some cases, CJD can take years to show up, Mayer said.

The hospital has instituted the enhanced sterilization process on all surgical instruments used in brain surgery, Novant Health said.

In September, 13 patients received similar warnings from two hospitals in New Hampshire and Massachusetts, when a patient who had undergone neurosurgery was later suspected to have CJD.

The hospitals shared the specialized surgical equipment that was used to operate on the patient and continued to use it until the suspicion of exposure to the disease surfaced.

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STIFF PERSON SYNDROME: A misleadingly flippant name for a serious disease

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Posted by Jennifer Ding, MSIV Drexel University College of Medicine

What is Stiff Person Syndrome (SPS)?

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Exaggerated lumbar lordosis in SPS

Stiff Person Syndrome (yes, the official moniker) is a very rare autoimmune disease of the nervous system that affects maybe 1 in 1,000,000 people worldwide. Most patients experience fluctuating, involuntary muscle rigidity in the trunk and limbs, an exaggerated lumbar curve, and a heightened sensitivity to their environment.

Loud or unexpected noise, touch and emotional distress can actually set off muscle spasms or even falls in those afflicted.

Attacks of spasms are usually unpredictable, last for minutes and tend to recur over hours. These spasms can be so intense that they actually can cause.

The rigidity seen in SPS is characterized by a stiffness (hence the name) that begins over several months along the spine and spreads to the legs. In the lucky few, the fluctuating rigidity becomes fixed leading to difficulty walking, bending, and frequent falling.

Who gets SPS?

Moersch and Woltman first described SPS in 1956 based on 14 cases that were observed over 32 years. It was initially called “stiff man syndrome” before the disease was found in females and children as well.

Today, we see that SPS affects twice as many women as men and is frequently associated with other autoimmune diseases, such as Diabetes Mellitus Type 1, thyroiditis and vitiligo. Age of onset varies between 30 to 60 with it occurring most frequently in people in their 40s.

What causes SPS?

Now for the science behind SPS: like any autoimmune disease, the problem is thought to lie with antibodies that attack the body’s own cells or enzymes. Patients with SPS have antibodies against glutamic acid decarboxylase (GAD), an enzyme, that produces gamma-aminobutyric acid (GABA), a chief inhibitory neurotransmitter (a chemical) that plays a crucial role in regulating our central nervous systems. GABA is also directly involved in regulating muscle tone.
Mechanism

The exact details of the way GAD antibodies cause SPS remain unknown. Many people with GAD antibodies don’t develop SPS. But most patients with SPS have a high level of GAD antibodies in their blood as well as antibodies that inhibit GABA-receptor-associated-protein (GABARAP). Therefore, scientists hypothesize that the root cause of the muscle rigidity and spasms seen in SPS lie in a GABA impairment.

Think of it this way: muscles work in pairs. When one contracts, the other relaxes, and vice versa. GABA is key in regulating this relaxation and without it, both muscles end up contracting. When both muscles contract, they lose the ability to work together, leading to a stalemate, or stiffness that we see in patients with SPS.

How is SDS diagnosed?

The level of GAD antibodies can be measured in the blood and cerebrospinal fluid (CSF). As aforementioned, the mere presence of GAD antibodies in the blood does not directly correlate with a diagnosis of SPS. Instead, the higher the level of GAD antibodies in the blood, the more likely SPS is the diagnosis.

Electromyography (EMG) can also be used to demonstrate involuntary neuronal firing in muscles.

How is SPS treated?

While there is no cure for SPS to date, there are treatment options that are aimed at symptom relief. Benzodiazepines, such as Valium (diazapam) or Ativan (lorazepam), that act similarly to GABA are the primary treatment for symptom relief. These drugs have muscle relaxant and anticonvulsant effects. Baclofen, another type of GABA-agonist that is dispensed from an implanted pump, can be used as a muscle relaxant. Neurontin (gabapentin) is a seizure medication that has also been used for symptom relief. However, SPS tends to worsen over time, leading to patients requiring increased dosages of drugs.

Intravenous immunoglobulin (IVIG) that target the antibodies themselves are also used in patients with advanced disease. IVIG has been shown to decrease stiffness and the heightened startle reflex. Steroids, rituximab, and plasma exchange have also been used to target the immune system in SPS patients, but the benefit of these treatments remains unclear.

Additional reading material

Click here for more information on SPS, the most up-to-date research on the neurological disease, and social networking for those interested, afflicted, or who have family members who are afflicted.

Click here for an article about a patient with SPS.


News segment about a young dancer with SPS.

Louis Pasteur’s New Jersey Connection

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We have already blogged about Rabies, and the paranoia invoked by this terrible almost invariably fatal illness.

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Part of the terror is the long incubation period between the bite of an infected animal and the onset of the disease, anywhere from 5d to 2 years later.

Before Louis Pasteur’s investigation and research in the late 1800’s, there was nothing a potentially infected victim could do except wait to develop this terrifying disease.

In the 1880s, Louis Pasteur and others proved that Rabies was an infectious disease that could be transmitted between species by infected saliva and blood.

They had also realized that Rabies was neurotrophic and targeted the spinal cord and brain. They could dissect an infected animal, remove the spinal cord, and infect other animals by the inoculation of this material.

Pasteur went on to find that strains of the virus become less lethal (“virulent”) when transmitted from dog to monkey or between other species, and that the virulence diminished with each transmission.

He also found that when sections of rabid spinal cord was suspended in dry air the virulence gradually diminished with time.

Tableau_Louis_Pasteur

This is how Pasteur produced the first attenuated vaccine, and successfully immunized 50 dogs against rabies.

Then on Monday 6 July 1885, Joseph Meister, aged nine, was brought to him from Alsace having been bitten by a rabid dog just 2 days before.

With some reluctance, Pasteur was persuaded by Drs Vulpian and Grancher of the Académie de Médecine to give Dr Grancher the emulsion from the cord of a rabbit that had died of rabies on 21 June and kept in dry air for 15 days, to innoculate the child.

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The boy was then given 13 further inoculations with samples form progressively fresher (more virulent) infected spinal cord over 10 days.  Pasteur waited every day for news of the boy from his doctos.  Finally when the boy had shown no signs of hydrophobis after three months, it seemed likely that the innoculations had averted the dreaded disease, and Pasteur announced that the vaccine had worked.

Not long after on the other side of the Atlantic in Newark (New Jersey) four boys had been bitten by a dog suspected to be rabid. A well-known physician, Dr. William O’Gorman had heard of Pasteur’s work with Meister, and recommended that the children be sent to him for treatment:

I have such confidence in the preventive forces of inoculation by mitigated virus that were it my misfortune to be bitten by a rabid dog, I would board the first Atlantic steamer, go straight to Paris and, full of hope, place myself immediately in the hands of Pasteur…. If the parents be poor, I appeal to the medical profession and to the humane of all classes to help send these poor children where there is almost a certainty of prevention and cure. Let us prove to the world that we are intelligent enough to appreciate the advance of science and liberal and humane enough to help those who cannot help themselves..

– New York Herald Tribune, December 4, 1885

This appeal to individuals in the United States, for those who desperately needed this medical treatment, as well as to philanthropists who recognized the global need to implement Pasteur’s new discoveries as standard medical procedure, created an uproar throughout the country.

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The four boys were sent to Paris accompanied by the one mother and a reporter.  Their story became a media sensation. It seemed that the entire nation was following the boys, who finally returned home in January 1886 cured.  The papers announced them as “heroes” are arranged for them to  tour and appear in major American cities.

The international publicity and donations resulting from this and other similar cases led to the foundation of the Pasteur Institute in 1888.  Patients came from all around the world for treatment.

By 1911,  the Philadelphia drug company H. K. Mulford was producing a rabies vaccine kit, using the Pasteur method, that could be shipped directly to doctors and was simple enough that “physicians who have had no previous experience may successfully apply it”.

three ampules of rabies vaccine, doses one, two, and three; 26 syringes with physiological salt solution; 26 needles for the syringes; two metal piston rods and two metal finger rests for the syringes; one two-dram vial of tincture of iodine; two charts for recording cases; one letter of general instructions; two stamped return envelopes; one record-of-treatment blank; and one vial of sterile wires. The treatment at this time had been reduced to only 21 doses to be administered one a day for 21 days

The kit contains three ampules of rabies vaccine, doses one, two, and three; 26 syringes with physiological salt solution; 26 needles for the syringes; two metal piston rods and two metal finger rests for the syringes; one two-dram vial of tincture of iodine; two charts for recording cases; and one letter of general instructions.

Watch the video below to find out more about rabies and post-exposure vaccination, which is 100% effective if administered right away:

A New Spin on The “Founder” of Neurology

Jean-Martin Charcot (1825-1893) is regarded by most scholars to be the founder of modern neurology.

charcotdemonstratinghistechnique

Known to be an excellent clinical teacjer, he was a professor at the University of Paris for 33 years and was  associated with Paris’s Salpêtrière Hospital that lasted throughout his life, ultimately becomiwas known as an excellent medical teacher, and he attracted students from all over Europe. His focus turned to neurology, and he is called by some the founder of modern neurology.

Charcot took an interest in hysteria, a mental disorder with physical manifestations, which he believed to be the result of an inherited weak neurological system, set off by a traumatic event like an accident

He learned the technique of hypnosis to evaluate these patients, and very quickly became a master of the relatively new “science.”

He believed that a hypnotized state was very similar to a bout of hysteria, and so he hypnotized his patients in order to induce and study their symptoms.

Charcot’s work also included other aspects of neurology – he was first to describe the degeneration of ligaments and joint surfaces due to lack of use or control, now called Charcot’s joint. He discovered the importance of small arteries in cerebral hemorrhage.  He described hereditary motor and sensory neuropathy.

He died in 1893 in Morvan, France.

The new movie focuses on his relationship with one hysterical patient named Agustine,

Click here to find out more about this.

The American Academy of Neurology’s Palatucci Advocacy Leadership Forum

I was lucky enough to participate in the AAN’s 2014 Palatucci Advocacy Leadership Forum last weekend.

The forum provides a wonderful opportunity for neurologists to learn how to:

  • Promote state and federal legislation
  • Work with the media
  • Obtain financial support for research
  • Develop coalitions
  • Organize and reinvigorate state neurological societies
  • Lobby for fair reinbursement
  • Help Draft position statements that affect future legislation

The forum is named in honor of former UCSF Professor of Neurology and AAN Board of Directors Member Donald M. Palatucci, MD.

Attendees get to practice:

  • Creating effective action plans to identify issues and resolves problems
  • Sharpen their interview skills, work with reporters, and improve confidence on camera
  • Get an inside look at how governments work and how to get results

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Here are some examples of on-site activities and the accomplishments of forum alumni:

Surgery for Migraine? Keep your scalp on!

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An excerpt from the Boston Globe April 2012

Debra Haining lay in a hospital bed at Massachusetts General Hospital, awaiting surgery. Both eyelids were colored purple, and blue dots were drawn on her forehead, including one on each temple, and one above her left eye.

The dots indicated the location where she feels the migraine, the trigger points, where the pain strikes. She is 57 years old and says that she never had a headache until five years ago, when she woke up feeling as if she’d been shot through the head.

She was forced to spend nearly every day in bed with the curtains drawn. She could not tolerate light, smell, or sound. Typically she rose only to see her 12-year-old son off to school in the morning and in the afternoon when he returned. Until recently, she had an ice pack to her head and could not drive a car.

A half-dozen medications, four different pain clinics, a variety of headache cocktails and injections, and numerous neurologists didn’t provide relief. Haining, who lives in Pawtucket, R.I., searched the Internet until she found Dr. W.G. (Jay) Austen Jr., of plastic and reconstructive surgery at Massachusetts General Hospital.

Haining says she was tired of doctors who suggested that she learn to accept a lifetime of pain, pills, and shots, and was relieved to find a doctor who offered to treat the cause of the migraine and not just the symptoms. “When you are debilitated and life comes to a halt, you are willing to try what’s out there.’’

In the operating room at Mass. General, Austen began surgery on Haining by making an incision in one of her eyelids in what would appear to be a routine blepharoplasty, a cosmetic surgery known as an “eyelid lift.”

Haining would benefit cosmetically by removal of this globular flat that settles into each eyelid with age. But the point, Austen says, is that this particular procedure provides “easy access” to the critical sensory nerves around her eyes that he believes were causing migraine pain.

This was just one of the three trigger points that Haining identified prior to surgery, and as he operated, Austen would be seeking a structural reason for that pain, a nerve compressed or impinged by surrounding bone or soft tissue.

This surgical approach was developed 12 years ago by Dr. Bahman Guyuron, chairman of the plastic surgery department at University Hospitals Case Medical Center in Cleveland, after several of his plastic surgery patients reported that their migraines improved after a cosmetic procedure known as a forehead lift.

A study published in the journal Plastic and Reconstructive Surgery in 2009 — led by Guyuron and submitted by Case Western Reserve University, the American Migraine Center, and the Center for Headache and Pain, Cleveland Clinic — found that just under 85 percent of patients who underwent the nerve decompression surgery reported at least a 50 percent reduction in migraine, calculating pain, frequency, and duration. Nearly 60 percent (28 of 49 patients) reported a complete elimination of pain. This compared with only 1 of 26 patients who had a sham surgery, in which the surgery was limited to exposure of the nerve but muscle and attachments were left intact. Reported side effects included forehead numbness, temporary hair loss and itching, a slight hollowing of the temple, and small change in eyebrow movement.

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Sound too good to be true?

Dr. Paul Mathew, neurologist at Harvard Medical School and fellow graduate of the 2014 AAN Palatucci Advocacy Leadership Program says yes….

In his recently published review on the subject, Dr Mathew explains that these surgeries are unproven, risky, expensive ($10,000-15,000) and are often not covered by medical insurance.  “Many patients have no or temporary benefits from the surgery and still wind up on long term narcotics”, he says,  and furthermore “These procedures have made their way into mainstream medicine without adequate investigation”.  This is why he has decided to make this subject the focus of his future advocacy efforts.

Click here to read the paper.

Click here to find out more about migraine.

Duchenne Muscular Dystrophy

Posted by Elliot Dubowitch from Drexel University College of Medicine Class of 2014

Duchenne muscular dystrophy (DMD) is one of the four main groups  of muscular dystrophy, a muscle disorder that affects and weakens the musculoskeletal system.

Muscular dystrophies are genetically inherited and progressive.

DMD is inherited in an x-linked manner.  This means that the mother, who is unaffected, is a carrier for the disease and has a 50% chance of passing it on to her male children.

The disease is caused by a deficiency in the Dystrophin protein, a complex that anchors the muscle to surrounding tissue.

dystrophin

This disease has a wide spectrum of symptom severity, depending on the type of genetic mutation, with Duchenne being very severe, and Becker’s muscular dystrophy being much more mild.

The symptoms in DMD are not usually present at birth.  As the child ages, however, they symptoms will gradually become worse and worse.  Most children are unable to walk by thirteen years of age and die in their twenties due to respiratory failure.

One of the earliest signs of DMD is called to as the “Gower Maneuver.”  Although not pathognomonic for DMD, this maneuver is a sign for proximal muscle weakness and is often correlated with DMD.  Below is a clip of a child performing to Gower’s maneuver to stand.  The patient must “walk” up his body using his hands from a sitting position due to weakness in his hip and thigh muscles.  Below is a video clip demonstrating this.

Another early sign is calf pseudohypertrophy.  Although the muscle looks bigger, it is not necessarily stronger, as the functional muscle is replaced by nonfunctional fibrous tissue.

Unfortunately, there is currently no cure for DMD.  However, there is symptomatic treatment available, such as respiratory support, cardiovascular monitoring and treatment and (if needed) surgery for scoliosis.

Steroids are the only current medication that has been shown to keep the boys walking longer.  A study was conducted in which one group of boys were given steroids daily, whereas the other group of boys were given steroids 10 days on and 10 days off.  The boys receiving daily steroids walked on average until the age of 14.5 year, while the boys receiving steroids intermittently walked to only 12 years of age.  The boys receiving continuous steroids also had more side effects including weight gain, mood swings, increase risk of infection, and other side effects of steroid usage.  If one is to consider steroid use, it is imperative to remember that it must be used at the time the child is still ambulating.  The boy will not regain lost function, however he may retain his current function longer.  In the future we hope that new drugs like VBP-15 will hopefully provide the benefits of corticosteroids without some of the side effects.

Genetic research is currently being done to hopefully find a cure for this disease.