Recent Publications by CFE Educators

BACKGROUND

Sarcoidosis is a systemic granulomatous disorder of unknown etiology. In patients with cardiomyopathy, the diagnosis of sarcoidosis has important treatment implications. We studied the prognostic implications of a cardiac biopsy diagnosis of sarcoidosis in patients with unexplained cardiomyopathy.

METHODS

We evaluated 1235 patients with unexplained cardiomyopathy who underwent endomyocardial biopsy (EMBx) between 1982 and 1997 at the Johns Hopkins Hospital. Twenty-eight patients were referred with a clinical diagnosis of sarcoidosis.

RESULTS

Seven of these 28 patients (25%) plus 3 more with other initial diagnoses had sarcoidosis on heart biopsy. Of these 10 patients, 3 (30%) died with a median survival time after biopsy of 0.69 years. Of the remaining 21 patients with a clinical diagnosis of sarcoidosis, 20 had negative biopsy results for sarcoidosis and 7 (35%) died with a median survival time of 2.34 years. The odds of death within 1, 2, and 3 years were higher for those with than for those without an EMBx-proven cardiac sarcoid (crude OR 4.75 [P = .23], 8.1 [P = .09], and 1.28 [P = .78], respectively), but the differences failed to reach significance at the .05 level. However, the difference in the odds of death within 2 years did achieve marginal significance.

CONCLUSIONS

Only a quarter of patients with cardiomyopathy and clinical diagnosis of sarcoid have a noncaseating granuloma on EMBx. Of those with a clinical diagnosis of sarcoidosis, heart biopsy results that are positive for sarcoidosis appear to be associated with a shorter median survival time than heart biopsy results that are negative for sarcoidosis. Finally, a noncaseating granuloma on EMBx is a rare finding in patients with cardiomyopathy without a history of sarcoidosis.

The delta-opioid receptor and the precursor protein of a neuropeptide, substance P, are colocalized in the large dense-core vesicles of pain-sensing neurons. In this issue of Cell, report that trafficking of the delta-opioid receptor to these vesicles depends on its physical interaction with the substance P domain of its precursor polyprotein (protachykinin). Moreover, in mice lacking this precursor, the contribution of the delta-opioid receptor to pain processing is dramatically altered. These observations suggest a new role for peptide precursors as sorting signals in vesicular transport.

We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X.

OBJECTIVE

To investigate the patterns of MRI brain atrophy in patients with ALS with and without clinically evident frontotemporal lobar dementia (FTLD) using voxel-based morphometry (VBM).

METHODS

Voxel-based morphometry was used to compare T1-weighted MRI images obtained from ten ALS patients with FTLD, ten ALS patients who were cognitively and behaviorally normal, and 22 control subjects. Images from patients and controls were spatially pre-processed using a study-specific, customized template and a priori images. A statistical threshold of p 0.05 corrected for multiple comparisons determined significance.

RESULTS

A common pattern of gray matter atrophy was seen in both ALS and ALS/FTLD patients when compared to controls that involved the bilateral motor/premotor cortices, the left middle and inferior frontal gyri, the anterior portion of the superior frontal gyri, the superior temporal gyri, the temporal poles and left posterior thalamus. Most of the frontal regions were significantly more atrophied in the ALS/FTLD group than in the ALS group. No significant differences were found in white matter volumes.

CONCLUSIONS

Patients with ALS and ALS associated with frontotemporal lobar degeneration exhibit widespread gray matter atrophy in frontotemporal regions. This finding supports the idea of a clinical and anatomic continuum between ALS and frontotemporal lobar degeneration.

The purpose of this literature review is to examine recent advances in technique and technology of endoscopic mucosal resection of superficial early cancers of the upper gastrointestinal tract. Endoscopic mucosal resection (EMR) of superficial early cancers of the upper gastrointestinal tract is standard technique in Japan and is increasingly used in Western countries. Newer techniques of EMR allow removal of larger lesions en-bloc. These minimally invasive techniques, when applied correctly, allow safe and efficacious treatment in situations that would otherwise require major surgery. Through the establishment of long-term outcomes data, standardization of endoscopic and pathologic reporting, and newer EMR technology and techniques, the future treatment of early cancers in the upper gastrointestinal tract may be achieved primarily through the endoscope.

Athletes' skin is subject to a distinct array of physical and environmental stressors. Trauma, the elements, and pathogenic organisms constantly challenge the skin's integrity. This article intends to arm the clinician with a fundamental knowledge of infections, mechanical injuries, and environmental insults common to the skin of athletes. Photographs corresponding to the described entities are included as figures. Because rapid return to play is the ultimate goal after injury or illness, there is a section dedicated to play restrictions as set forth by the National Collegiate Athletic Association. Although the evaluation and management of cutaneous disease is a challenging endeavor, a consistent and systematic approach to this most accessible organ can result in early diagnosis, appropriate treatment, and ultimate performance.

OBJECTIVE

To examine the association of maternal and paternal ethnicity as well as parental ethnic discordance with preeclampsia.

METHODS

Retrospective cohort study of all low-risk women delivered from 1995 to 1999 within a mature managed care organization. Rates of preeclampsia were calculated for maternal, paternal, and combined ethnicity using both univariate and multivariate analyses.

RESULTS

Among the 127,544 low-risk women, when examining maternal ethnicity in a multivariate model controlling for maternal age, parity, education, and gestational age, we found that the rates of preeclampsia were higher among African American (5.2%; odds ratio [OR] 1.41, 95% confidence interval [CI] 1.25-1.62) women and lower among Latina (4.0%; OR 0.90, 95% CI 0.84-0.97) and Asian women (3.5%; OR 0.79, 95% CI 0.72-0.88), with all results being statistically significant as compared with white women. When paternal ethnicity was controlled for separately, however, the difference in the rate of preeclampsia among Asian women disappeared, the effect of African-American maternal ethnicity increased slightly (OR 1.49, 95% CI 1.33-1.72), and Asian paternity was found to be associated with the lowest rate of preeclampsia (3.2%; OR 0.76, 95% CI 0.68-0.85). Further, parental ethnic discordance was associated with an increase in the rate of preeclampsia (OR 1.13, 95% CI 1.02 - 1.26).

CONCLUSION

We found that rates of preeclampsia were lower with Asian paternal ethnicity. We also found that having a differing paternal and maternal ethnicity was associated with increased rates of preeclampsia. For every 1,000 pregnancies, there would be approximately 10 fewer cases of preeclampsia in the setting of Asian paternity and 5 more cases of preeclampsia in the setting of parental ethnic discordance. These differences may be useful in further investigation of the cause of preeclampsia.

LEVEL OF EVIDENCE

II-2.