SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.

OBJECTIVE: The SCN11A gene encodes the NaV1.9 sodium channel found exclusively in peripheral nociceptive neurons. METHODS: All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies. RESULTS: All affected family members are afflicted by episodes of pain. Pain was predominantly nociceptive, but not neuropathic in nature, which led a diagnosis of fibromyalgia in some patients. All patients had normal findings in nerve conduction studies for detecting large nerve fiber neuropathies and skin biopsies for detecting small nerve fiber pathology. CONCLUSIONS: Unlike those patients with missense mutations in SCN11A, small fiber sensory neuropathy, and neuropathic pain, the Arg225Cys SCN11A in the present study causes predominantly nociceptive pain with minimal features of neuropathic pain and undetectable pathophysiologic changes of peripheral neuropathy. This finding is consistent with dysfunction of nociceptive neurons. In addition, since nociceptive pain in patients has led to the diagnosis of fibromyalgia, this justifies a future search of mutations of SCN11A in patients with additional pain phenotypes such as fibromyalgia to expand the clinical spectrum beyond painful small fiber sensory neuropathy.

The effect of reducing maximum shift lengths to 16 hours on internal medicine interns' educational opportunities.

PURPOSE: To evaluate educational experiences of internal medicine interns before and after maximum shift lengths were decreased from 30 hours to 16 hours. METHOD: The authors compared educational experiences of internal medicine interns at Vanderbilt University Medical Center before (2010; 47 interns) and after (2011; 50 interns) duty hours restrictions were implemented in July 2011. The authors compared number of inpatient encounters, breadth of concepts in notes, exposure to five common presenting problems, procedural experience, and attendance at teaching conferences. RESULTS: Following the duty hours restrictions, interns cared for more unique patients (mean 118 versus 140 patients per intern, P = .005) and wrote more history and physicals (mean 73 versus 88, P = .005). Documentation included more total concepts after the 16-hour maximum shift implementation, with a 14% increase for history and physicals (338 versus 387, P < .001) and a 10% increase for progress notes (316 versus 349, P < .001). There was no difference in the median number of selected procedures performed (6 versus 6, P = 0.94). Attendance was higher at the weekly chief resident conference (60% versus 68% of expected attendees, P < .001) but unchanged at morning report conferences (79% versus 78%, P = .49). CONCLUSIONS: Intern clinical exposure did not decrease after implementation of the 16-hour shift length restriction. In fact, interns saw more patients, produced more detailed notes, and attended more conferences following duty hours restrictions.

Adrenal disorders in rheumatology.

Understanding adrenal disorders, whether endogenous or related to glucocorticoid use is important to the day-to-day care of patients with rheumatologic disease.