Hemichorea/hemiballism

The NEJM just published a short case of a patient who developed hemichorea/hemiballismus in the setting of diabetic ketoacidosis. A video shows the abnormal movements. His symtpoms resolved after short-term treatment with a dopamine-blocker and time.

Donald and Math

This is segment 1 of 3. The rest of the 1959 "Donald in Mathmagic Land" can be found on Youtube. The end of the video discusses the golden ratio, always of interest.

Gehrig's etiology

A paper being published in the Journal of Neuropathology and Experimental Neurology is reporting that in three autopsies of athletes with motor neuron disease, TDP-43 and tau deposits were found extending to the spinal cord. The athletes' motor neuron disease mimicked ALS but was distinct pathologically. The New York Times explored how this finding may alter our understanding of Lou Gehrig's disease, the disease whose name has become inseparable from its famous sufferer. Gehrig's sports career was accompanied by a number of head traumas and concussions, so his disease may not have been the same as the majority of other ALS patients. The situation is analogous to Muhammed Ali's relationship to Parkinson's disease. Ali suffers from dementia pugilistica, parkinsonism its most visible manifestation, secondary to his history of occupational head trauma. Even Michael J. Fox, whose Parkinson's disease began when he was young, doesn't represent the median PD patient. Nevertheless, any celebrity attracts attention and eventually money to a disease.

The recent finding underscores what has become increasingly clear about neurodegenerative diseases, specifically Alzheimer's, Parkinson's, and ALS: they are all complex diseases with complex etiologies. In some patients, e.g. athletes, head trauma may play a major role in their development, but not all athletes develop disease. In non-athletes, even minor head trauma may contribute to a lifetime of accumulating neuronal damage and loss. Regardless of its relative contribution to an individual's disease, the neurodegenerative consequences of head trauma, via inflammation or structural damage, deserve further study.

Best American Medical Writing 2009

Unlike the Best American Science and Nature Writing 2009, this volume focuses on the human aspects of medicine rather than the scientific. That isn't to say there isn't science, but there aren't the mind-blowing ideas of the other volume, such as how life may have started in ice.

The best pieces in the collection show how dysfunctional the medical system currently is (Tom McGrath, "My Daughter's $29,000 Appendectomy"; Harold Pollack, "Lessons from an Emergency Room Nightmare"). There are plenty of personal struggles, including two physicians' encounters with drug addiction. The first involves an anesthesiologist (Jason Zengerle, "Going Under"); the second follows the career arc of an AIDS physician. This latter article (David France, "Another AIDS Casualty") and the one before it provide the history and the current state of HIV/AIDS in this country. Both are eye-opening in different ways: it's hard to imagine that at the height of the AIDS crisis, not even two decades ago, a third of the beds in St. Vincent's in NYC contained dying AIDS patients; "Apartheid" reports on the evolution of the AIDS epidemic in this country and the brewing health crisis in the South.

Kevin Baker's "Mind Bomb" follows the journalist's struggle to find out his own Huntington's disease genetic status. The article makes it clear how important genetic counselors are and how fraught applying genomic advances will be. There were personal stories about struggles with cancer, and Sharon Begley's "We Fought Cancer...And Cancer Won", which details the inadequacies of decades of cancer research and treatment. "Contagious Cancer" about the Tasmanian Devil Facial Tumor Disease would have fit in well in the Science and Nature volume. Oliver Sack's almost obligatory piece catalogs and reviews insanity.

This is the first year I've read the science/medicine entries of the Best American series. I'll certainly be returning to them again next year.

End-of-life Medicine

Today the NYT magazine had an excellent article about how the medical system fails when patients approach death.

Iceland Volcano

Some stills of the erupting Icelandic volcano, the huge plumes of ash, and the melting glacier.

Lewy Body

Courtesy of pathguy.com, here is a Lewy body, the pathologic hallmark of Parkinson disease, in a substantia nigral neuron.

This picture has been incorporated into the header of this blog.

Bicycling with Parkinson

The April 1, 2010 New England Journal of Medicine includes an "Image in clinical medicine" that was highlighted in today's New York Times. It shows a Parkinson disease patient with severe freezing and festination, as well as the classic stooped posture and bilateral upper extremity tremor. His appearance is remarkably similar to the famous drawing in Gowers' textbook from 1886. His symptoms melt away when he rides a bike. There is a video available with the article.

Variations on this phenomenon have been recognized in PD for a while and are usually explained by the fact that the patient is accessing motor programs quite different from the automatic one involved with walking.

The Fear Response

As demonstrated by this amateur video from the Atlanta Olympic bombing, the automatic fear response involves crouching and vigilance (everyone looking around). After a few seconds, as the frontal lobes kick in, those who felt closest to danger fled. This video was alluded to in last night's excellent talk by Joe LeDoux.

Genomic Medicine

Sequencing an entire genome has become easier.

Ataxic Cats

Checklists

In a relatively short period of time, medicine has grown infinitely complex. Specialties have splintered into subspecialties. The number of diagnostic tests, available treatments, and knowledge about diseases has exploded. But as often reported, the complexity - not to mention the cost to deliver it - has not necessarily improved outcomes.

In The Checklist Manifesto, Atul Gawande offers a bafflingly simple idea to tame the complexity and to bring more discipline to medicine: checklists. He believes the use of checklists can standardize the delivery of care and ensure that proven treatments are actually delivered. He draws mostly from his experience in the OR, where he has found that checklists save more lives than surgery can alone.

It's easy to be dismissive about his idea. Aviation, his favored checklist-heavy profession, is very different from treating individual patients. Doctors need the flexibility to react to conditions as they change, not the rigidity of a checklist. But in the chaos of the OR, a checklist doesn't only ensure that life-saving antibiotics are delivered before an operation or the correct side is operated on. Checklists encourage communication among the entire team and get the easy stuff out of the way so the team can focus on the job at hand.

Checklists are a way to inject discipline and teamwork into a profession where the hierarchical delivery of care doesn't encourage checks. At this time there is little guarantee that advances in knowledge are applied in every appropriate clinical setting. After years of rigorous training, residents enter busy practices in sometimes rapidly evolving fields. For the most part they function autonomously in outposts all over the country where the newest data isn't always folded into their practice. That doctors often learn about new therapies from pharmaceutical reps is another problem. Continuing medical education requirements shoulder some of the burden of keeping doctors up to date, but there is no equivalent to the updated flight manuals provided to pilots on a regular basis.

The body of medical knowledge has exponentially increased, but the culture of medicine has not. As other industries have made leaps in efficiency, many hospitals are still using paper charts. Dr. Gawande is really suggesting an inroad into the morass of complexity. Checklists could serve to change the culture of medicine by introducing more discipline and teamwork. This in turn would spawn efficiency and standardization which would hopefully lead to the holy grail of medicine, improved outcomes. In his book Dr. Gawande shares evidence that, at least in surgery, checklists alone improve outcomes.

When patient care doesn't go by the book, physicians remind themselves that, after all, it is "the art of medicine". The problem is when the art is left to chance and prone to inconsistency. Checklists might just make the art better.

Lateral Assymetry

These two lobsters demonstrate the claw asymmetry typical of Homarus americanus. There is one crusher, fatter with a broader edge, and one cutter, smaller with a fine-toothed edge. There is no preferential laterality: as many lobsters that crush with the right (see lobster on left) also cut with the right (lobster on right).

Hysteria presented

Un Leçon Clinique à la Salpêtrière, 1887. André Brouillet

In this painting, Charcot is instructing at the Salpetriere. Joseph Babinski is supporting the swooning woman. The bearded, seated chap, left of center, with his right index finger to his temple is Gilles de la Tourette.

PCR Rap

A molecular biology primer.

Parkinson Disease: pink1/parkin and mitochondria

This article offers some insight into how pink1 and parkin mutations cause mitochondrial dysfunction, which ultimately leads to Parkinson's Disease. The exciting element in the article is what understanding the genetic forms of PD offers: gene-targeted therapies. It is this avenue of research that has the most promise for finding a "cure".

The Neurology of Obsession

From the Youtube byline:

I found the Mad Dribbler on Fifth Avenue, not far from the Metropolitan Museum. This is not a performance. It is a genuine obsessive undertaking. Note the green rubber gloves. Halfway through closeups begin. Watch to the end for the best parts, including reactions of passersby. Who is he? Where is he now?

The head movements, more apparent during the close-up shots, look like drug-induced dyskinesias, and provide a possible explanation for the obsessive dribbling.

That's a Bad Twitch!

In You Can't Take it With You Lionel Barrymore's character makes the above comment about another character's facial movements.

Here's a video of the scene, although there are better examples of the abnormal movements in the scene directly before this one.

Whether John Blakely's (Clarence Wilson) facial twitching is acted or hemifacial spasm is not clear. It certainly looks like hemifacial spasm with unilateral clonic jerks involving the eye and mouth. The eyebrow here appears uninvolved although usually it elevates. Most cases are caused by vascular compression of CN VII and a much smaller number of secondary cases follow recovery after Bell's Palsy. Even fewer cases are caused by brainstem lesions. The treatment of choice is botulinum toxin, not available in 1938. As for attributing the symptoms to stress, other than possible worsening in the setting of stress, there's no evidence that rest will cure the symptoms.

Since hemifacial spasm may in a minority of cases represent something sinister, I agree with Mr. Barrymore: "Look out for that twitch, Mr. Blakeley."

Brain Poster

Courtesy of Ork Posters.

James Parkinson's London

In the glazed red brick building at 1 Hoxton Square in London, James Parkinson lived and worked. He inherited the first floor office when his father died. The blue plaque is obscured by the restaurant umbrella. St. Leonard's, Shoreditch, the church where he was baptized, married, buried, is just down the road. Its portico is now a homeless shelter.

Touretter

In the paved yard around St Clement Danes Church on the Strand in London stands this statue of Samuel Johnson. His hair, reminiscent of the frontal lobes of a dolphin brain, makes him recognizable from behind.His list of achievements speak volumes about the man, and according to his last descriptor, he could speak volumes.In the tradition of posthumously diagnosing past luminaries with current medical diagnoses, his list of descriptors could include Touretter. Movement disorders by their very nature are visible. Johnson's contemporaries chronicled his tics, motor and verbal. They also described obsessive compulsive behaviors. Johnson's remarkable intellectual output may have been the natural counterpart to his observed insuppressible motor energy.

The documentary evidence for Johnson's tics and obsessive compulsive behaviors is documented in this article from The Journal of the Royal Society of London.

The face of PSP

Tom Haywood, a senator from Texas, died in 2001 from progressive supranuclear palsy. Photographed with his family, it is easy to identify that who has PSP. The facial expression of PSP is homologous to the extreme neck rigidity: there is facial akinesia with varying degrees of tonic contraction of the facial muscles. This sometimes includes a perpetually furrowed brow. Drawing from Goetz, C.G. (1987) Charcot, The Clinician. New York: Raven Press. Private Collection of MDS Member, Christopher G. Goetz, MD, Chicago, IL. Taken from MDS website.

The appearance makes it difficult to gauge a patient's comfort and mood. It can also lead caretakers and medical staff to overestimate the degree of cognitive impairment. There is currently no effective treatment for PSP, neither symptomatic relief of the rigidity and gait difficulty nor medication to slow its progression. However, there are ongoing clinical trials, so identification of the disease (which can be confused with Parkinson's Disease) is important for recruiting patients for these studies.