We describe a young adult male presenting with cardiac failure necessitating cardiac transplantation 7 months after presentation. Skeletal muscle biopsy showed mosaic immunostaining for dystrophin. DNA studies showed somatic mosaicism for a nonsense mutation in the dystrophin gene (Arg2905X). The frequency of normal versus mutant genes were determined in blood/DNA (50:50), muscle/DNA (80:20) and muscle/mRNA (90:10). These data are consistent with genetic normalization processes that may biochemically rescue skeletal muscle in male somatic mosaic patients mitigating muscle symptoms (gradual loss of dystrophin-negative skeletal muscle tissue replaced by dystrophin-positive stem cells). To our knowledge, this is only the second reported case of a clinically ascertained patient showing somatic mosaicism for Duchenne muscular dystrophy (DMD). We hypothesize that many somatic mosaic males for DMD exist, yet they are not detected clinically due to genetic normalization. Somatic mosaicism for DMD should be considered in acute heart failure with dilated cardiomyopathy, as genetic normalization in heart is unlikely to occur.

Objective: The American Board of Psychiatry and Neurology (ABPN) has recently replaced the traditional, centralized oral examination with the locally administered Neurology Clinical Skills Examination (NEX). The ABPN postulated the experience with the NEX would be similar to the Mini-Clinical Evaluation Exercise, a reliable and valid assessment tool. The reliability and validity of the NEX has not been established.Methods: NEX encounters were videotaped at 4 neurology programs. Local faculty and ABPN examiners graded the encounters using 2 different evaluation forms: an ABPN form and one with a contracted rating scale. Some NEX encounters were purposely failed by residents. Cohen's kappa and intraclass correlation coefficients (ICC) were calculated for local vs ABPN examiners.Results: Ninety-eight videotaped NEX encounters of 32 residents were evaluated by 20 local faculty evaluators and 18 ABPN examiners. The interrater reliability for a determination of pass vs fail for each encounter was poor (kappa 0.32; 95% confidence interval [CI] ϭ 0.11, 0.53). ICC between local faculty and ABPN examiners for each performance rating on the ABPN NEX form was poor to moderate (ICC range 0.14 -0.44), and did not improve with the contracted rating form (ICC range 0.09 -0.36). ABPN examiners were more likely than local examiners to fail residents. Conclusions:There is poor interrater reliability between local faculty and American Board of Psychiatry and Neurology examiners. A bias was detected for favorable assessment locally, which is concerning for the validity of the examination. Further study is needed to assess whether training can improve interrater reliability and offset bias. The American Board of Psychiatry and Neurology (ABPN) eliminated its centralized oral examination for several reasons. First, the encounters were not standardized. Second, a single high-stakes, high-stress encounter is not necessarily representative of a candidate's performance. Third, deficiencies were difficult to remediate for failed candidates as they had already completed training. To replace the centralized oral examination, the ABPN Neurology Council voted to require residency programs to administer a set of clinical skills examinations called the Neurology Evaluation Exercise (NEX) to all residents entering training as of July 1, 2005, and document every graduating resident's satisfactory performance on these. The ABPN proposed this approach after reviewing the American Board of Internal Medicine (ABIM) experience with clinical skills evaluation in internal medicine (IM) residency using the Mini-Clinical

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