Wednesday, June 25, 2014

2nd Edition of "Biopsy Diagnosis of Peripheral Neuropathy" to be released August 31, 2014

The second edition of Biopsy Diagnosis of Peripheral Neuropathy by Drs. Juan M. Bilbao and Robert E. Schmidt is set to come out on August 31, 2014. The is from the book's description from amazon.com:
"This book presents a simple, logical method for constructing a differential diagnosis based on pathology and clinical presentation. It also provides advice on the selection of ancillary molecular, immunohistochemical and genetic techniques to establish a definitive diagnosis. Clear, authoritative guidance is offered on diagnosis of the full range of neuropathies with the aid of a wealth of high-quality color photomicrographs and electron micrographs. The pathologist will benefit greatly from the identification of a variety of artifacts and normal structures occasionally encountered in nerve biopsies that need to be distinguished from specific pathologic alterations"


The first edition, also co-authored by Bilbao, was released back in 1995. Given the advent of new diagnoses and techniques of analysis and the impact of molecular genetics, there is without doubt a dire need for this book, which is authored by well-established authorities in the field.

Thanks to the inimitable Dr. Mark Cohen for alerting me to the imminent release of this text.

Monday, June 16, 2014

Horbinski Group develops online tool to estimate likelihood of IDH1/2 mutation in a glioma

Craig Horbinski, MD, PhD.
The illustrious Craig Horbinski, MD, PhD wrote in to share a link to an online tool which his team developed which helps triage brain tumor cases that might benefit from additional molecular testing.   Here's what the University of Kentucky neuropathologist had to say about this new website: "We have developed an online-based tool to provide a statistical estimate of the likelihood of an IDH1/2 mutation in a glioma, based
on a few easily-obtained parameters. Several variables like patient age, WHO grade, etc. are well-known to correlate with mutations, but no formula has yet been developed that synthesizes those variables into one unified probability score. An added feature is that it generates separate scores if no testing has been done at all, and if R132H IDH1 immunostain was done but is negative. Hopefully this will help pathologists and investigators better triage cases that would benefit from additional testing, both in clinical and in research endeavors."

Thanks, Craig!

Monday, June 9, 2014

Rocky Report from Columbia, MO

Dispatch from University of Missouri Neuropathologist Douglas C. Miller, MD, PhD:
"I saw this rock today while out walking for exercise. To me it looks like half an axially cut midbrain. No PD here!"

Thursday, June 5, 2014

Higgins Leads Athena's Quest for More Specific Epilepsy Diagnoses

Joseph J. Higgins, MD
Last month I had an opportunity to sit down with Joseph J. Higgins, MD at the American Academy of Neurology Annual Meeting in Philadelphia. Dr. Higgins is Athena Diagnostics' recently named medical director for neurology.
Among the topics we discussed is Athena's new advances in helping clinicians diagnose autoimmune epilepsy disorders. A growing body of evidence points to an autoimmune etiology for a proportion of drug-resistant epilepsy cases. Dr. Higgins, with the horsepower of Athena's parent company Quest Diagnostics behind him, is leading the way in making auto-antibody testing available to patients with intractable epilepsy. While patients with pathogenic auto-antibodies often experience heightened adverse effects and typically respond poorly to conventional treatment, they can respond very well to immunomodulatory therapy. Autoantibodies to surface proteins that influence neuronal excitability have been found in the serum and cerebral spinal fluid of well over 10% of patients with epilepsy—whether the epilepsy was newly-diagnosed or established. In many cases, once identified, autoimmune epilepsy can be slowed, halted, or even reversed with adjunctive immunotherapy. Testing to establish an accurate diagnosis is an important part of selecting an optimal treatment plan. In a recent study (see reference below), 81% of adult patients diagnosed with autoimmune epilepsy experienced significant improvement in seizure status when immunotherapy was used in combination with anti-epileptic medications; 67% achieved complete seizure freedom.

Among the clinical syndromes that can be investigated using CSF auto-antibody assays are Morvan's Syndrome (by testing for VGKC complex, predominantly CASPR2) and NMDA Receptor Antibody Encephalitis (by testing for NMDA receptor, NR1 subunit). Dr. Higgins is at the forefront of personalized epilepsy treatment. Athena's advances in this field will ultimately improve patient outcomes while reducing medical costs. 


Reference: Quek AM, Britton JW, McKeon A, et al. Autoimmune epilepsy: clinical characteristics and response to immunotherapy. Arch Neurol 2012;69:582-93.
Joseph J. Higgins, M.D.
Joseph J. Higgins, M.D.